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Sample records for adysplasia pulmonary hypoplasia

  1. Aberrant left pulmonary artery associated with right pulmonary hypoplasia

    International Nuclear Information System (INIS)

    Aberrant left pulmonary artery (ALPA), or pulmonary artery sling, is an uncommon vascular malformation that is frequently associated with obstructive disorders of the tracheobronquial tree. In newborns, it produces severe respiratory problems. In contrast, in adults, it is usually discovered by change. ALPA has been associated with right pulmonary hypoplasia (RPH) in a small number of cases. We present a new case of ALP associated with right pulmonary hypoplasia in an adult woman, diagnosed by CT and MR. 12 refs

  2. MR assessment of fetal pulmonary hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kuwashima, Shigeko; Kohno, Atsushi; Saiki, Natoru; Iimura, Fumitoshi; Kohno, Tatsuo; Hashimoto, Teisuke; Fujioka, Mutsuhisa [Dokkyo Univ. School of Medicine, Mibu, Tochigi (Japan)

    2000-08-01

    The purpose of this study is to evaluate pulmonary hypoplasia of the fetus using MRI. The subjects consisted of 36 fetuses (18 to 40 weeks' gestation). All fetuses or mothers had major anomalies diagnosed on fetal ultrasonography. MR imaging was performed with a 1.5-T magnet and HASTE (half-Fourier acquisition single-shot turbo spin-echo) sequence. MR images were evaluated with special attention to the intensity of the lung. A diagnosis of pulmonary hypoplasia was based on the clinical, surgical, and autopsy findings. All fetuses with normal pulmonary development showed high intensity in the lung, while all fetuses with pulmonary hypoplasia showed a low intensity in the lung, obscured pulmonary vessels and a small thorax. There was a close correlation between the lung intensity and pulmonary growth. MR assessment of lung intensity may facilitate the diagnosis of pulmonary hypoplasia, particularly after 26 weeks' gestation. Some of the normally developing lung showed a low intensity from 20 to 24 weeks of gestational age. The change to normal lung intensity may occur during this period. (author)

  3. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

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    Katragadda Laxmi Narsimha Rao

    2013-04-01

    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  4. [A case of right pulmonary hypoplasia with congenital diaphragmatic hernia and dextrocardia].

    Science.gov (United States)

    Andou, A; Shimizu, N; Okabe, K; Date, H; Teramoto, S

    1992-10-01

    Chest X-ray of a 28-year-old woman revealed an abnormal shadow in the right lower lung field and dextrocardia, for which detailed investigation was performed. Since the CT number of the tumor shadow corresponded to that of the liver on chest CT, diaphragmatic hernia of the liver was suspected, and was confirmed by MRI and angiography of the abdomen. In addition, the pulmonary artery and vein were hypoplastic, and angiography of the pulmonary artery demonstrated pulmonary hypoplasia. This case was considered to have primary pulmonary hypoplasia, because the dextrocardia was considered to have occurred secondary to pulmonary hypoplasia and the diaphragmatic hernia of the liver was not sufficiently large to cause pulmonary hypoplasia. Pulmonary hypoplasia first diagnosed in adulthood is rare, with a clinical course and roentgenographic appearance differing from those of pulmonary hypoplasia in children.

  5. Evaluation of fetal pulmonary hypoplasia by MR signal intensity

    International Nuclear Information System (INIS)

    Magnetic resonance (MR) imaging plays an important role in prenatal diagnosis and perinatal treatment. We correlated low intensity of the fetal lung after 25 weeks' gestation and neonatal respiratory distress in 35 fetuses. We employed MR imaging using the half-Fourier acquisition, single-shot, turbo spin-echo (HASTE) sequence. In all fetuses, signal intensity was lower in the lung than in the liver, and all infants subsequently had respiratory distress at birth. In 9 autopsy cases, pulmonary hypoplasia was established as the cause of death. Despite the small number of cases examined in this study, low signal intensity in the fetal lung may be a predictor of respiratory distress requiring mechanical ventilation at birth. (author)

  6. Low-intensity fetal lungs on MRI may suggest the diagnosis of pulmonary hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kuwashima, S.; Nishimura, G.; Iimura, Fumitoshi; Kohno, Tatsuo; Kohno, Atsushi; Fujioka, Mutsuhisa [Department of Radiology, Dokkyo University School of Medicine, Tochigi-Ken (Japan); Watanabe, Hiroshi [Department of Obstetrics and Gynaecology, Dokkyo University School of Medicine, Tochigi-Ken (Japan)

    2001-09-01

    Background: Pulmonary hypoplasia is a common cause of neonatal death. Despite the recent advances in prenatal diagnosis with US, the diagnosis of pulmonary hypoplasia is difficult. The recent application of fast MR imaging may provide additional valuable information. Objective: To evaluate pulmonary hypoplasia in the fetus with MRI. Materials and methods: The subjects comprised 23 fetuses (18-40 weeks' gestation), including major anomalies diagnosed on fetal ultrasonography (n = 20), maternal abnormality (n = 2) and one normal twin. MRI was performed with a 1.5-T magnet and half-Fourier acquisition single-shot turbo spin-echo (HASTE) sequences. MR images were interpreted by three radiologists with special attention to the intensity of the lungs. The lung-to-liver intensity ratio was calculated by means of region-of-interest (ROI) analysis. The diagnosis of pulmonary hypoplasia depended on clinical, surgical and autopsy findings. Results: All fetuses with normal pulmonary development showed high intensity in the lung except for one fetus at 24 weeks' gestational age. All fetuses with pulmonary hypoplasia showed lung of low intensity. Conclusions: Low-intensity fetal lung on MRI imaging indicates pulmonary hypoplasia after 26 weeks' gestation. (orig.)

  7. Prenatal prediction of pulmonary hypoplasia: clinical, biometric, and Doppler velocity correlates

    NARCIS (Netherlands)

    J.A.M. Laudij (Jacqueline); D. Tibboel (Dick); S.G.F. Robben (Simon); R.R. de Krijger (Ronald); M.A.J. de Ridder (Maria); J.W. Wladimiroff (Juriy)

    2002-01-01

    textabstractOBJECTIVES: To determine the value of pulmonary artery Doppler velocimetry relative to fetal biometric indices and clinical correlates in the prenatal prediction of lethal lung hypoplasia (LH) in prolonged (>1 week) oligohydramnios. METHODS: Forty-two singleton pregnanc

  8. Down-Regulation of Sonic Hedgehog Expression in Pulmonary Hypoplasia Is Associated with Congenital Diaphragmatic Hernia

    OpenAIRE

    Unger, Sharon; Copland, Ian; Tibboel, Dick; Post, Martin

    2003-01-01

    The pathogenesis of pulmonary hypoplasia associated with congenital diaphragmatic hernia (CDH) is unknown. The sonic hedgehog (Shh) cascade is crucial for the patterning of the early respiratory system in mice. To establish whether Shh plays a role in the pathogenesis of lung hypoplasia in CDH, we investigated the gestation-specific expression of Shh in normal rat and human lungs using in situ hybridization and immunohistochemistry. The expression pattern was compared with that of age-matched...

  9. Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements

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    Morokuma Seiichi

    2010-08-01

    Full Text Available Abstract Background Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements. Case presentation A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth. Conclusions The findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.

  10. Clinical results of combined palliative procedures for cyanotic congenital heart defects with intractable hypoplasia of pulmonary arteries

    Institute of Scientific and Technical Information of China (English)

    FAN Xiang-ming; ZHU Yao-bin; SU Jun-wu; ZHANG Jing; LI Zhi-qiang; XU Yao-qiang; LI Xiao-feng

    2013-01-01

    Background Congenital heart defects with intractable hypoplasia of the pulmonary arteries without intercourse or with intercourse stenosis is unsuitable for surgical correction or regular palliative procedures.We reported our experience with combined palliative procedures for congenital heart defects with intractable hypoplasia pulmonary arteries.Methods From 2001 to 2012,a total of 41 patients with cyanotic congenital heart defects and intractable hypoplasia of the pulmonary arteries underwent surgical procedures.From among them,31 patients had pulmonary atresia with ventricular septal defect (VSD) and the other 10 cases had complicated congenital heart defects with pulmonary stenosis.Different kinds of palliative procedures were performed according to the morphology of the right and left pulmonary arteries in every patient.If the pulmonary artery was well developed,a Glenn procedure was performed.A modified Blalock-Taussi9 shunt or modified Waterston shunt was performed if pulmonary arteries were hypoplastic.If the pulmonary arteries were severely hypoplastic,a Melbourne shunt was performed.Systemic pulmonary artery shunts were performed bilaterally in 25 cases.A systemic-pulmonary shunt was performed on one side and a Glenn procedure was performed contralaterally in 16 cases.Major aortopulmonary collateral arteries were unifocalized in six cases,ligated in two cases and interventionally embolized in two cases.There was one early death because of cardiac arrest and the hospital mortality was 2.4%.Results Five patients suffered from postoperative low cardiac output syndrome,three had perfusion of the lungs,and two pulmonary infections.Systemic pulmonary shunts were repeated after the original operation in three cases due to the occlusion of conduits.The mean follow-up time was 25 months.The pre-and the post-operation left pulmonary indices were (8.13±3.68) vs.(14.9±6.21) mm2/m2.The pre-and post-operation right pulmonary indices were (12.7±8.13) vs.(17.7±7

  11. Cerebellar Hypoplasia

    Science.gov (United States)

    ... disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or ...

  12. A Rare Presentation of Right Lung Hypoplasia Associated with Dextrocardia and Visceral Malposition

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    Ayşe Yıldırım

    2012-08-01

    Full Text Available Lung hypoplasia is often associated with pulmonary venous return abnormalities, referred to as the Scimitar syndrome, in pediatric patients. A two day-old male patient presented to our clinic with respiratory distress and mild cyanosis. Diagnostic studies revealed dextrocardia, right sided hypoplasia of upper and middle lung lobes and enlargement of the left lung due to the compensation, midline liver, right sided stomach and right sided spleen. No pulmonary venous return abnormalities were detected. This is the first report of lung hypoplasia associated with heterotaxy, visceral malposition and normal pulmonary venous return.

  13. One-stage Surgical Correction of Aortic Coarctation Complicated With Aortic Arch Hypoplasia by Autologous Pulmonary Artery Patch%自体肺动脉补片一期矫治主动脉缩窄伴主动脉弓发育不良

    Institute of Scientific and Technical Information of China (English)

    王显悦; 毕生辉; 童光; 董文鹏; 王晓武; 梁爱琼; 徐宇; 张卫达

    2014-01-01

      结论:自体肺动脉补片一期矫治主动脉缩窄伴弓发育不良,病变解除良好,并发症少,手术后早中期效果理想。%Objective: To observe the outcomes of one-stage surgical correction of aortic coarctation (COA) complicated with aortic arch hypoplasia by autologous pulmonary artery patch. Methods: A total of 22 COA with aortic arch hypolasia children treated in our hospital from 2009-05 to 2013-05 were summarized. All patients were clearly diagnosed by CTA. All patients received the one-stage surgical correction of aortic coarctation complicated with aortic arch hypoplasia by autologous pulmonary artery patch. The selective low-lfow cerebral perfusion was used during aortic arch procedure and the concomitant cardiac anomalies were corrected during the same surgery. Results: No peri-operative death. There were 6 patients with the upper arm BP higher than lower arm immediately after the operation and the pressure gradient Conclusion: COA with aortic arch hypoplasia could be treated with one-stage surgical correction using autologous pulmonary artery patch, which had good early and mid term outcomes.

  14. Lethal hypoplasia and developmental anomalies of the lungs in a newborn with intrauterine adrenal hemorrhage and cerebral infarcts: a proposed pulmonary disruption sequence.

    Science.gov (United States)

    Lertsburapa, Terakeith; Vargas, Diana; Lambert-Messerlian, Geralyn; Tantravahi, Umadevi; Gündoğan, Füsun; DeLaMonte, Suzanne; Coyle, Mara G; De Paepe, Monique E

    2014-01-01

    We report a case of a 31-week-gestation male newborn who died soon after birth from intractable respiratory failure and persistent pulmonary hypertension. The pregnancy had been complicated by intermittent bleeding between 13 and 20 weeks' gestation, attributed to peripheral placental separation, as well as bilateral fetal adrenal hemorrhage, first detected at 17 weeks' gestation. Postmortem examination revealed small, calcified adrenal glands as well as several remote cerebral and cerebellar infarcts. The lungs were hypoplastic (lung weight/body weight ratio: 1.64%; 10th percentile for 28-36 weeks' gestation: 2.27%) and distorted by exaggerated lobulation. Microscopically, the lungs exhibited several developmental anomalies, including focal acinar dysgenesis suggestive of arrested development in the pseudoglandular stage of development (8-16 weeks' gestation) (mainly in the upper lobes), and features of bronchial obstruction, including focal lobular hyperplasia and microcystic maldevelopment (mainly in the lower lobes). The adrenal and cerebral findings were consistent with a severe early-gestation hypoxic-ischemic insult, likely related to peripheral placental separation and chronic abruption. The co-occurrence and timing of these well-recognized hypoxic lesions provide further evidence that certain developmental lung anomalies, such as focal acinar dysplasia, focal lobular hyperplasia, and microcystic maldevelopment, may, at least in some cases, have a hypoxic/ischemic etiology.

  15. Cerebral white matter hypoplasia

    International Nuclear Information System (INIS)

    This paper demonstrates the MR imaging findings in children with cerebral white matter hypoplasia (CWMH). The MR studies of four children, aged 3-7 y (mean age, 2.3 y) with a diagnosis of CWMH were reviewed. In all cases multiplanar T1-weighted and T2-weighted spin-echo images were obtained. All children had similar histories of severe developmental delay and nonprogressive neurologic deficits despite normal gestational and birth histories. In two cases there was a history of maternal cocaine abuse. Autopsy correlation was available in one child. The MR images of all four children demonstrated diffuse lack of white matter and enlarged ventricles but normal-appearing gray matter. The corpus callosum, although completely formed, was severely thinned. There was no evidence of gliosis or porencephaly, and the distribution of myelin deposition was normal for age in all cases. Autopsy finding in one child correlated exactly with the MR finding

  16. Comparison of five different ultrasonographic parameters for diagnosis of lethal fetal pulmonary hypoplasia%超声诊断胎儿肺发育不良的临床价值

    Institute of Scientific and Technical Information of China (English)

    梁琴; 周启昌; 彭清海; 章鸣; 孙巍; 曹丹鸣; 丁依玲

    2008-01-01

    目的 探讨多个超声指标用于产前诊断胎儿肺发育不良的临床价值.方法 应用彩色多普勒超声诊断仪,检查271例正常胎儿,建立5个超声指标(肺面积、肺面积与胎儿质量比、胸围与腹围比、肺面积与胸廓面积比、肺面积与头围比)的正常值范围,以低于正常范围二倍标准差为肺发育不良胎儿判断标准.通过对30例肺发育不良高危胎儿的研究,并与尸体解剖及追踪结果对照,比较各超声指标的临床价值.结果 肺面积及肺面积与头围比随孕周增加而增加,肺面积与胎儿质量比随孕周增加而减少,胸围与腹围比、肺面积与胸廓面积比随孕周增加变化较小.肺面积、肺面积与胎儿质量比、胸围与腹围比、肺面积与胸廓面积比、肺面积与头围比用于产前诊断胎儿肺发育不良的准确率分别为83%、97%、50%、70%、87%.肺面积与胎儿质量比诊断准确率最高,灵敏度为95%(20/21),特异度为9/9,阳性预测值为100%(20/20).结论 肺面积与胎儿质量比能较好地预测致死性肺发育不良,具有临床实用性.%Objective To evaluate the clinic value of five different ultrasonographic fetal parameters for prenatal diagnosis of pulmonary hypoplasia.Methods Two hundred and seventy-one normal singleton pregnancies with well-established dates between 20 and 40 weeks of gestation were studied to establish normal reference range of five different ultrasonographic fetal parameters.The five parameters,which could reflect fetal lung mass,were as follows:lung area/body weight ratio,lung area,thoracic circumference/abdominal circumference ratio,lung area/thoracic area ratio and lung area/head circumference.Thirty pregnancies with risk factors for pulmonary hyperplasia were studied for the usefulness of five parameters.Two or more standard deviations below the mean control group measurement were considered abnormal.The prenatal ultrasonic diagnoses of pulmonary hyperplasia were

  17. Optic nerve hypoplasia

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    Savleen Kaur

    2013-01-01

    Full Text Available Optic nerve hypoplasia (ONH is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65% than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED.

  18. Optic nerve hypoplasia.

    Science.gov (United States)

    Kaur, Savleen; Jain, Sparshi; Sodhi, Harsimrat B S; Rastogi, Anju; Kamlesh

    2013-05-01

    Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65%) than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED). PMID:24082663

  19. MR findings in pontocerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Uhl, M.; Pawlik, H.; Laubenberger, J.; Langer, M. [Department of Radiology, Division of Paediatric Radiology, University Hospital of Freiburg, Freiburg (Germany); Darge, K. [Department of Paediatric Radiology, Children`s Hospital of the University of Heidelberg, Heidelberg (Germany); Baborie, A. [Department of Neuropathology, Neurozentrum, University of Freiburg, Freiburg (Germany); Korinthenberg, R. [Department of Neuropaediatrics, Children`s Hospital, University of Freiburg, Freiburg (Germany)

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons - pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to `float` in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect. (orig.) With 3 figs., 2 tabs., 13 refs.

  20. Hypoplasia of exocrine pancreas with myocardial necrosis

    Institute of Scientific and Technical Information of China (English)

    Xiang Sheng Zhang; Xin Xiu Xu; Yan Zhang; Sbu Hua Wu

    2000-01-01

    AIM To study the clinical and pathological features of hypoplasia of exocrine pancreas with myocardialnecrosis.METHODS One ease of hypoplasia of exocrine pancreas with myocardial necrosis was autopsied. Theclinical signs and pathological changes were analyzed.RESULTS A 15-month-old boy with hypoplasia of exocrine pancreas was reported. The main clinicalfeatures were steatorrhea and marked underdevelopment. He died of acute heart failure afterhospitalization. Autopsy showed that there were aplasia of exocrine portion and fatty metaplasia ofpancreas, the myocardium revealed focal necrosis and sear formation.CONCLUSION Atrophy of exocrine pancreas and myocardial necrosis exist at the same time, suggestingthat there may be some relationship between them. It was likely that the damaged pancreatic tissue releasedsome active materials that may harm the myocardium or decrease pancreatic juice that results in lack ofnutrient and myocardial necrosis.

  1. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Namavar, Yasmin; Barth, Peter G; Kasher, Paul R; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y; Ferriero, Donna M; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B; Baas, Frank; Poll-The, Bwee Tien; Sival, Deborah

    2011-01-01

    Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ve

  2. THE SYNDROME OF AUTOSOMAL RECESSIVE PONTOCEREBELLAR HYPOPLASIA, MICROCEPHALY, AND EXTRAPYRAMIDAL DYSKINESIA (PONTOCEREBELLAR HYPOPLASIA TYPE-2) - COMPILED DATA FROM 10 PEDIGREES

    NARCIS (Netherlands)

    BARTH, PG; BLENNOW, G; LENARD, HG; BEGEER, JH; VANDERKLEY, JM; HANEFELD, F; PETERS, ACB; Valk, J.

    1995-01-01

    The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neu

  3. Pulmonary Vein Stenosis in a Newborn: A Commonly Overlooked Diagnosis

    OpenAIRE

    Nathalie Jeanne Magioli Bravo-valenzuela; Guilherme Ricardo Nunes Silva; Marcela Pinto Varella

    2015-01-01

    The diagnosis of primary pulmonary vein stenosis is often overlooked because its symptoms overlap lung diseases and pulmonary arterial hypertension. Its diagnosis may be difficult because the condition is progressive and associated with other defects. We present a case of pulmonary vein stenosis in a newborn with stenosis of the left-sided common pulmonary vein, diffuse hypoplasia of the superior right pulmonary vein, and atresia of the inferior right pulmonary vein.

  4. Lissencephaly and cerebellar hypoplasia in a goat

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    José Rômulo Soares dos Santos

    2013-10-01

    Full Text Available A case of lissencephaly and cerebellar hypoplasia was observed in a 30-day-old goat. The goat presented with sternal recumbence, absence of a menace response, intention tremors, ataxia, and nystagmus. The goat was euthanized and necropsied after having been hospitalised for eleven days. At necropsy, the surface of the brain was found to be smooth, the cerebral sulci and gyri were absent, and the cerebellum was reduced in size. Histologically, the grey matter and white matter were thicker and thinner than normal in cortices, respectively. The neurons were randomly arranged in the grey matter. In the cerebellum, the layers were disorganised, and cells were heterotopics. The histologic and gross lesions observed in this animal are characteristic of lissencephaly associated with cerebellar hypoplasia. The presence of a single goat affected suggests that the malformation was not of infectious origin and because lissencephaly is a malformation not previously described in goats, it is unlikely this case was inherited.

  5. Enamel hypoplasia: challenges of esthetic restorative treatment.

    Science.gov (United States)

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena

    2016-01-01

    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia.

  6. Enamel hypoplasia: challenges of esthetic restorative treatment.

    Science.gov (United States)

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena

    2016-01-01

    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia. PMID:27599287

  7. Radicular Dentin Dysplasia Associated with Enamel Hypoplasia

    International Nuclear Information System (INIS)

    The author observed a rare case of radicular dentin dysplasia associated with enamel hypoplasia in a 11-year-old boy with a complaint of gum boil formation. 1. Clinically, yellowish-brown colored teeth with severe attrition and several gum boils were observed. 2. Radiographically, obliteration of pulp chamber and root canal, multiple periapical radiolucencies without obvious cause and blunt roots were observed. 3. Systemically, scalp hair and eyebrows were loose and short. And saddle nose could be also seen.

  8. [Oligomeganephronic renal hypoplasia complicated by glomerulonephritis].

    Science.gov (United States)

    Kan'shina, N F; Rykov, V A; Lakhno, P A

    1990-01-01

    Clinico-anatomical data of a rare condition congenital oligomeganephronic renal hypoplasia with a glomerulonephritis as a complication are available for a 13-year-old girl who died of chronic renal failure. Large aglomerular zones consisting of primitive canaliculi in a loose stroma were observed in kidneys that were decreased in size. The glomeruli were few in number, some of them of a large size (2-2.5-fold), firmly attached to the capsule, with pronounced extracapillary proliferation.

  9. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  10. Pontoneocerebellar hypoplasia: definition of MR features

    International Nuclear Information System (INIS)

    We report five patients with pontoneocerebellar hypoplasia. Because the issue of cerebellar malformations is a difficult subject, we tried to define criteria for diagnosis on MRI: a thin flat pons with disappearance of the anterior curve, a small cerebellum with predominant flattening of the hemispheres and shortened cerebellar fissures, in contrast to atrophy. The posterior fossa is not enlarged. We emphasize the probable late onset of the disease in fetal life because of the demonstration of the abnormalities at US during the last trimester of the pregnancy in one patient. Prenatal diagnosis is important because of possible autosomal recessive transmission. (orig.)

  11. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Y. Namavar; P.G. Barth; B.T. Poll-The; F. Baas

    2011-01-01

    Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atr

  12. Artery Agenesis: Ipsilateral Common Carotid Artery Hypoplasia

    Directory of Open Access Journals (Sweden)

    Omer Kaya

    2014-01-01

    Full Text Available A 42-year-old female patient, who had been diagnosed with an occlusion of her left internal carotid artery (ICA following Doppler ultrasonographic (US and digitally-subtracted angiographic (DSA examinations performed in an outer healthcare center in order to eliminate the underlying cause of her complaint of amorosis fugax, later applied to our hospital with the same complaint. At Doppler US performed in our hospital’s radiology department, her right common carotid artery (CCA was normal, but her left CCA was hypoplastic. The right internal artery (ICA was validated as normal. At the left side, however, the ICA was apparent only as a stump and it did not demonstrate a continuity. The diagnosis of ICA agenesis was confirmed by the utilization of Doppler US, CT, and DSA imaging, and it was concluded also that ipsilateral CCA hypoplasia could be evaluated as an important clue to the diagnosis of ICA agenesis.

  13. Brainstem hypoplasia presenting with mirror movement

    Directory of Open Access Journals (Sweden)

    Burcu Ekmekçi

    2015-09-01

    Full Text Available 20 years old female patient, who had operated from congenital syndactyly on her left hand at five age, admitted to neurology policlinic with involuntary movement on her hands. We saw mirror movement (MM when she writing, catching with her left hand. This movement is had low amplitude in the right hand than left. Cervical MRG revealed no abnormality. Brain MRG revealed right middle, inferior cerebellary peduncle, olive and pyramid hypoplasia. Mirror movement shows homolog muscle activity which simulating contralateral movement, during a spesific task. This movement is seen usually upper extremity especially in the hand. Corticospinal tract dysfunction is often considered in the pathogenesis. MM may present as part of cervico medullary junction abnormality, cerebral palsy, cerebrovasculary disease, Parkinson disease. We wanted to discuss the patogenesis of MM in our patient with syndactyly and MRG abnormality.

  14. Aplasia and hypoplasia of the maxillary sinus: A case series

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    Nasim Jafari-Pozve

    2014-01-01

    Full Text Available Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of the sinus. Computed tomography (CT and also cone beam computed tomography (CBCT are the proper modalities to detect these conditions. In the present study, CBCT findings of three cases with maxillary sinus hypoplasia and aplasia are reported.

  15. Fetal MRI and antenatal diagnosis of unilateral cerebellar hypoplasia

    Directory of Open Access Journals (Sweden)

    Houda El Mhabrech

    2015-03-01

    Full Text Available Focal cerebellar hypoplasia is restricted to one cerebellar hemisphere or to the vermis. Prenatal diagnosis of unilateral cerebellar hypoplasia is possible by the use of ultrasound and MRI. Familiarity with the prenatal MRI findings is essential to recognize cerebellar pathologies accurately and prospectively. We present US and MRI findings in a fetus with cerebellar malformation at 20 weeks gestation. The goal of our case report is to present the fetal MRI findings of unilateral cerebellar hypoplasia, to discuss the value of fetal MRI in the early diagnoses of this malformation and to summarize the current main stream literature concerning the etiology.

  16. Fetal MRI and antenatal diagnosis of unilateral cerebellar hypoplasia

    OpenAIRE

    Houda El Mhabrech; Ahmed Zrig; Chiraz Hafsa

    2015-01-01

    Focal cerebellar hypoplasia is restricted to one cerebellar hemisphere or to the vermis. Prenatal diagnosis of unilateral cerebellar hypoplasia is possible by the use of ultrasound and MRI. Familiarity with the prenatal MRI findings is essential to recognize cerebellar pathologies accurately and prospectively. We present US and MRI findings in a fetus with cerebellar malformation at 20 weeks gestation. The goal of our case report is to present the fetal MRI findings of unilateral cerebellar h...

  17. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    Science.gov (United States)

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed. PMID:7785727

  18. Novel PORCN mutations in focal dermal hypoplasia.

    Science.gov (United States)

    Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S

    2009-12-01

    Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

  19. Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

    Science.gov (United States)

    Balasubramanian, M; Shield, J P H; Acerini, C L; Walker, J; Ellard, S; Marchand, M; Polak, M; Vaxillaire, M; Crolla, J A; Bunyan, D J; Mackay, D J G; Temple, I K

    2010-02-01

    Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart defects. All had abdominal scan evidence of pancreatic agenesis. In addition, Patient 1 had a ventricular septal defect, patent ductus arteriosus and pulmonary artery stenosis; Patient 2 had a truncus arteriosus and Patient 3 had tetralogy of Fallot. Two of the three patients have developmental delay. All three patients were isolated cases within the family. Investigations included sequencing of GCK, ABCC8, IPF1, NEUROD1, PTF1A, HNF1B, INS, ISL1, NGN3, HHEX, G6PC2, TCF7L2, SOX4, FOXP3 (Patients 1 and 2), GATA4 and KCNJ11 genes (all three patients), but no mutations were found. Genetic investigation to exclude paternal UPD 6, methylation aberrations and duplications of 6q24 was also negative in all three. 22q11 deletion was excluded in all three patients. Array CGH in Patient (1) showed a approximately 250 kb, paternally inherited duplication of chromosome 12q [arr cgh 12q24.33 (B35:CHR12:131808577-132057649++) pat], not found in the other two patients. Permanent neonatal diabetes mellitus due to pancreatic hypoplasia with congenital heart defects has been reported before and may represent a distinct condition. We discuss this rare association and review previously reported literature. PMID:20082465

  20. Persistent pulmonary hypertension of the newborn

    OpenAIRE

    Sharma, Vinay; Berkelhamer, Sara; Lakshminrusimha, Satyan

    2015-01-01

    Persistent pulmonary hypertension of the newborn (PPHN) is characterized by elevated pulmonary vascular resistance resulting in right-to-left shunting of blood and hypoxemia. PPHN is often secondary to parenchymal lung disease (such as meconium aspiration syndrome, pneumonia or respiratory distress syndrome) or lung hypoplasia (with congenital diaphragmatic hernia or oligohydramnios) but can also be idiopathic. The diagnosis of PPHN is based on clinical evidence of labile hypoxemia often asso...

  1. Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

    Directory of Open Access Journals (Sweden)

    Stefan Gysin

    2015-05-01

    Full Text Available Focal dermal hypoplasia (FDH is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962 suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH.

  2. Bone marrow hypoplasia in a cat treated with griseofulvin.

    Science.gov (United States)

    Rottman, J B; English, R V; Breitschwerdt, E B; Duncan, D E

    1991-02-01

    Three weeks after initiation of griseofulvin treatment for dermatophytosis (40 mg/kg of body weight, q 12 h), an 8-yr-old domestic shorthair cat developed depression, vomiting, and pyrexia. Abnormalities found during physical examination included bilateral mydriasis, visual impairment, grade-II/V systolic murmur and multiple areas of alopecia. The cat was pancytopenic; serum biochemical abnormalities included hyperbilirubinemia, hyperglycemia, hyponatremia, and hypokalemia, and urinalysis revealed proteinuria, glycosuria, and bilirubinuria. Examination of a bone marrow aspirate revealed profound hypoplasia of all precursors. Griseofulvin toxicosis was diagnosed on the basis of the temporal relationship of drug administration with onset of clinical, hematologic, and biochemical abnormalities and failure to identify an infective or neoplastic cause for the bone marrow hypoplasia. The condition was refractory to treatment and the cat was euthanatized. Pathologic changes in the bone marrow were consistent with severe hypoplasia of all bone marrow precursors.

  3. Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm

    Energy Technology Data Exchange (ETDEWEB)

    Briganti, F.; Tortora, F.; Elefante, A. [Universita di Napoli Federico II, Dipartimento di Scienze Neurologiche, Cattedra di Neuroradiologia, 80131, Napoli (Italy); Maiuri, F. [Universita di Napoli Federico II, Department of Neurological Sciences, Neurosurgery Service, Napoli (Italy)

    2004-10-01

    We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions. (orig.)

  4. Unilateral Glenoid Hypoplasia: A Case Report and Review of the Literature

    OpenAIRE

    Ashish Suryawanshi; Amber Mittal; Snehal Dongre; Neeti Kashyap

    2012-01-01

    Glenoid hypoplasia is a relatively rare alteration that in most cases involves the pectoral girdle in a bilateral and symmetrical manner. In general, glenoid hypoplasia is associated with skeletal changes such as hypoplasia of the humeral head or changes in the morphology of the acromion and of the coracoid. We describe a rare case of unilateral glenoid hypoplasia without instability and not involving humeral head. The patient was managed effectively with nonoperative measures that featured s...

  5. Pulmonary damage in childhood: Evaluation with pulmonary scintigraphy

    International Nuclear Information System (INIS)

    Introduction: There are a number of pulmonary diseases during infancy that predispose to chronic respiratory conditions at the adults age. Bronchiectasis, malformations, bronchogenic cysts, atelectasis and sequels of adenovirus infection are frequent factors for recurrent respiratory diseases, that can produce a permanent pulmonary damage. The pulmonary radioisotopic studies allow a reliable pre-operatory evaluation in order to determinate the global and segmental pulmonary function. Chronic hypoventilated territories shown secondary hypoperfusion, giving as a result a match defect in the ventilation/perfusion scintigraphy. Goal: To determinate if the perfusion scintigram alone is enough in order to evaluate the pulmonary function in pediatric population with chronic pulmonary diseases. Materials and Methods: All ventilation/perfusion scintigraphic studies done in children with chronic pulmonary diseases derived to our center between 1999-2001 were analyzed. A total of 58 children (25 boys and 33 girls, in a age range from 1 month to 17 years) were studied. The most frequent indications the study were: bronchiectasis, pulmonary hypoplasia, several bronchitis and sequels of adenovirus respiratory infection. This last one represents the 31% of all cases. The number and location of each perfusion and ventilation defects where correlated. Results: Twelve out of the 58 children had normal lung scintigraphics studies (21%), 44 showed mixed defects (76%), in 1 child only one perfusion defect was found (1.5%) and in other child only a single ventilation alteration was seen (1.5%). Conclusion: According to the results in our group, we observed that in chronic pulmonary diseases most cases have matched ventilation/perfusion defects, because of readecuation of the pulmonary blood flow. The perfusions scintigraph was diagnosed in 98.5% of the studied cases. This allows us to suggests that in the evaluation of pulmonary damage in children with chronic pulmonary diseases, the

  6. Lung hypoplasia and patellar agenesis in Ehlers-Danlos syndrome.

    Science.gov (United States)

    Pradhan, P; Deb, J; Deb, R; Chakrabarti, S

    2009-12-01

    A 22-year-old male patient was admitted with severe cough associated with purulent expectoration, left-sided chest pain and breathlessness. There was a history of recurrent respiratory ailments since childhood. The patient appeared younger than his chronological age. His face and ears were both dysmorphic. Clinically, the patient was diagnosed with Ehlers-Danlos syndrome (EDS). Computed tomography of the thoracic region revealed hypoplasia of the left lung and hyperplasia of the right lung. Both the patellae were absent. However, ultrasonography of his abdomen, echocardiography and other routine blood and urine examination showed no gross abnormalities. Although other respiratory tract abnormalities with EDS are not uncommon, unilateral lung hypoplasia and patellar agenesis in EDS make this case unique. PMID:20087544

  7. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

    Science.gov (United States)

    Solanki, Shailesh; Babu, M Narendra; Gowrishankar; Ramesh, S

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  8. Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue.

    Science.gov (United States)

    del Carmen Boente, María; Asial, Raúl A; Winik, Beatriz C

    2007-02-01

    We followed over 10 years three girls with focal dermal hypoplasia syndrome. The histopathological changes demonstrated at the optical level an hypoplastic dermis with thin and scarce collagen bundles and a marked diminution of elastic fibers. Mature adipose tissue was found scattered within the papillary and reticular dermis. No alterations in the basal membrane were observed by immunocytochemical or ultrastructural techniques. Ultrastructurally, in the skin-affected areas, loosely arranged collagen bundles composed of few fibrils were seen scattered in the extracellular matrix. Scarce elastic fibers of normal morphology were also observed. Fibroblasts were smaller, oval-shaped, and diminished in number with a poorly developed cytoplasm. In these fibroblasts, the most conspicuous feature was a remarkable and irregular thickening of the nuclear fibrous lamina. Taking into account that a common link between all laminopaties may be a failure of stem cells to regenerate mesenchymal tissue, this failure would induce the dermal hypoplasia observed in our patients presenting Goltz syndrome.

  9. Aesthetic approach for anterior teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Josué Martos

    2012-01-01

    Full Text Available Enamel hypoplasia is a developmental defect of the enamel that is produced by a disturbance in the formation of the organic enamel matrix, clinically visible as enamel defects. Disorders that occur during the stages of enamel development and maturation reduce the amount or thickness of the enamel, resulting in white spots, tiny grooves, depressions and fissures in the enamel surface. The complexity and intensity of the dental deformity lesions will conduct the ideal treatment-associating conservative techniques. This article presents a case report of a restorative treatment of enamel hypoplasia using hybrid composite resin to mask color alteration and enamel defects. An aesthetic appearance that respects the tooth polychromatic and the self-esteem of the patient can be achieved with this approach.

  10. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  11. Optical coherence tomographic findings in optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Daruchi Moon

    2013-01-01

    Full Text Available We investigated a case of unilateral optic nerve hypoplasia using spectral domain optical coherence tomography (SDOCT. Optical coherence tomography was done on both eyes using 5-line Raster scan for the fovea to analyze the retinal nerve fiber layer thickness, inner retinal layer thickness, outer retinal layer thickness, and optic disc cube scan for the disc. Retinal nerve fiber layer thickness, inner retinal layer thickness, and outer retinal layer thickness were manually measured at 21-points of each five lines, and results were compared between both eyes. Retinal nerve fiber layer thickness and inner retinal layer thickness of optic nerve hypoplasia were significantly thinner than the opposite eye, but there was no significant difference in the thickness of the outer retinal layer between both eyes.

  12. Lissencephaly-pachygyria and cerebellar hypoplasia in a calf

    OpenAIRE

    Bianca Lemos dos Santos; Maria Cecília Florisbal Damé; Ana Carolina Barreto Coelho; Plínio Aguiar de Oliveira; Clairton Marcolongo-Pereira; Ana Lucia Schild

    2016-01-01

    ABSTRACT: A case of lissencephaly-pachygyria and cerebellar hypoplasia diagnosed in a Charolais x Tabapuã calf is described. The calf presented since birth, clinical signs characterized by apathy, prolonged recumbency, tremors of the head and neck, ataxia, hypermetria, difficulty walking, blindness and swelling of the joints of the four limbs. Due to the unfavorable prognosis, the animal was euthanized and necropsied at 34 days of age. At necropsy, a rudimentary development of the brain folds...

  13. Oral rehabilitation for a patient with oligodontia and maxillary hypoplasia

    OpenAIRE

    Chung, Da-Woon; Vang, Mong-Sook; Park, Sang-Won; Lim, Hyun-Pil; Yang, Hong-So

    2009-01-01

    An 18 year old female with oligodontia and maxillary hypoplasia was treated using an interdisciplinary team approach involving orthodontists, maxillofacial surgeons and prosthodontists. Full mouth one-piece fixed partial dentures were the final restoration. The fixed partial dentures fabricated for the maxilla and mandible using the concept of a shortened dental arch resulted in improved esthetics and the masticatory function. This paper describes the treatment procedures for an oligodontia p...

  14. Unilateral Glenoid Hypoplasia: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ashish Suryawanshi

    2011-01-01

    Full Text Available Glenoid hypoplasia is a relatively rare alteration that in most cases involves the pectoral girdle in a bilateral and symmetrical manner. In general, glenoid hypoplasia is associated with skeletal changes such as hypoplasia of the humeral head or changes in the morphology of the acromion and of the coracoid. We describe a rare case of unilateral glenoid hypoplasia without instability and not involving humeral head. The patient was managed effectively with nonoperative measures that featured specific rehabilitation exercises for the shoulder.

  15. Hypoplasia of the thumb. Clinical presentation and reconstruction

    International Nuclear Information System (INIS)

    In the genesis of the partial or total absence of the thumb they are genetic, environmental factors or a combination of both. It is take part of a syndrome or to be isolated and frequently associated with problems of radial longitudinal deficiency of the forearm. Objective. The purpose of this study is shown the experience, the focus of the processing and the results obtained since the point esthetic and functional view. The most it accepted classification is the proposal by Blauth that helps to determine the forecast and the processing. Materials and methods. it is a work type series of cases in 22 children with hypoplasia of the thumb, with a minimum of 12 months, (average 28 months). In 15 cases there were association of radial dysplasia or another anomaly among them 4 patients with VATER, and the 7 remaining they corresponded to hypoplasia of the thumb as only entity. We carried out tendon transfer, with opening of the first comisure in 2 patients with hypoplasia type II. In 3 patients, with hypoplasia type III A, one carries out corner opening, transfer of the superficial flexor of the 4 finger to correct instability of the articulation MF and opposition of the thumb, and transfer for extension of the thumb. In 17 cases one carries out politicization of the index. Results. The outcome was evaluated in: non pinch, lateral pinch and fingertip pinch; the grade of opposition like good, minimal and non opposition, and the aesthetic result according to the satisfaction of the parents in bad, regular and good. The five children reconstructed with transfers of tendons and comisure opening had good result. In 17 children with politicization one patient had a necrosis, of the 16 remaining a good or acceptable result was obtained. Discussion. It is not easy to follow a good system of measure of the functional results. We find that a practical way to evaluate was the clip, opposition and aesthetics. Previous to the surgeries it is required to evaluate alterations

  16. Management of Mandibular Hypoplasia Using Distraction Osteogenesis Technique

    Institute of Scientific and Technical Information of China (English)

    陶学金; 樊敏; 凌翔; 陈卫民

    2004-01-01

    Summary: By using distraction osteogenesis technique, 3 cases of mandibular hypoplasia were treated by home-made and German-made jaw distractors: including one patient suffered from bilateral ankylosis of temporo-mandibular joint and 2 patients from deficiency of mandible. The duration of distraction osteogenesis was one month. The bone distractor was removed 3 months after operation. Satisfactory results were obtained in all 3 cases. Distraction osteogenesis can successfully be used in mandibular functional reconstruction and has much more advantages than traditional technique.

  17. Rare combination of congenital heart disease and pulmonary alveolar proteinosis.

    Science.gov (United States)

    Tanaka, Yuki; Miyamoto, Takashi; Yoshitake, Shuichi; Naito, Yuji; Kobayashi, Tomio

    2015-10-01

    Here, we describe a case of total anomalous pulmonary venous return with coarctation of the aorta that was diagnosed as pulmonary alveolar proteinosis at autopsy in a male infant. Surgical repair was performed at 1 day of age, but the infant died on postoperative day 51 due to respiratory insufficiency without any evidence of pulmonary venous obstruction. He had been unexpectedly diagnosed with pulmonary alveolar proteinosis and pulmonary hypoplasia on autopsy. Congenital pulmonary alveolar proteinosis is a serious condition with a high mortality rate, which should be considered in the differential diagnosis in patients with a clinical picture of pulmonary venous obstruction, because most patients are unable to survive without proper treatment. In this report, we address specific issues that should be discussed in such cases based on our recent experience. PMID:26310609

  18. Spectrum of pulmonary sequestration: association with anomalous pulmonary venous drainage in infants.

    Science.gov (United States)

    Thilenius, O G; Ruschhaupt, D G; Replogle, R L; Bharati, S; Herman, T; Arcilla, R A

    1983-01-01

    Pulmonary sequestration is a spectrum of related lesions, each of which may be absent or present: (1) bronchial sequestration of pulmonary parenchyma; (2) arterial supply from systemic circulation; (3) anomalous pulmonary venous drainage to the right atrium; (4) communications between bronchus and esophagus; (5) defects of diaphragm; (6) gross lung anomalies, such as horseshoe lungs or hypoplasia. Any combination of these primary lesions can occur in an individual patient. Diagnosis should be directed towards each component of the spectrum. Of special importance is the venous connection, as anomalous pulmonary venous drainage can involve not only the sequestered segment but the entire ipsilateral lung, making surgical therapy far more complex. Treatment of choice is surgical resection, associated, if needed, with rerouting of the pulmonary venous return. Classification of sequestration of the lung as intra- and extralobar is of secondary importance: these 2 groups do not represent lesions of different embryological significance.

  19. Pulmonary agenesis: two cases reported

    Directory of Open Access Journals (Sweden)

    Denis Yaraví Solano-Vázquez

    2014-11-01

    Full Text Available Background: Pulmonary agenesis is a rare anomaly (1 in 15 000 live births which consists in a total absence or severe hypoplasia of one or both lungs. The clinical spectrum of the unilateral agenesis could vary from early and severe respiratory distress, recurrent pneumonia to being an incidental finding. The prognosis is based on the presence of associated congenital abnormalities. Material and methods: We present two cases of unilateral pulmonary agenesis in patients at Tlaxcala’s Children Hospital during 2012. Results: Report details the case of a one-month old boy with left pulmonary agenesis and interatrial communication and mild pulmonary arterial hypertension. He had two resolved pneumonia incidents. The other case was a one-month old girl with right pulmonary agenesis, associated to multiple heart malformations who evolved to respiratory failure, heart failure and death.Conclusions: Pulmonary agenesis is a rare anomaly. Its outcome and prognosis varies with the hemodynamics related to its location and associated malformations.

  20. Pulmonary edema

    Science.gov (United States)

    ... congestion; Lung water; Pulmonary congestion; Heart failure - pulmonary edema ... Pulmonary edema is often caused by congestive heart failure . When the heart is not able to pump efficiently, blood ...

  1. Pulmonary growth and development after repair of congenital diaphragmatic hernia

    International Nuclear Information System (INIS)

    Congenital diaphragmatic hernia (CDH) is generally associated with pulmonary hypoplasia that determines survival. To evaluate the degree of this hypoplasia, we examined pulmonary growth and development in 26 clinical cases who had undergone surgical repair of CDH, using chest X-rays and pulmonary perfusion scintigrams. Seven cases developed their symptoms more than 24 h after birth (Group I) and 19 cases within 24 h after birth (Group II), which included 11 cases with persistent fetal circulation (PFC). The affected lung in group I expanded immediately after surgery as showed by X-rays. On the other hand, one-eight weeks were required for expansion of the affected lung in group II. The perfusion to the hernia side was normal in all cases of group I, but reduced in 15 of 19 cases of group II. Especially, the perfusion was significantly decreased in cases with PFC. These results indicate a slow lung growth on chest X-rays and hypoperfusion in the affected side in most of group II, suggesting a vascular pulmonary hypoplasia. (author)

  2. Radiological features of Goltz syndrome: Focal dermal hypoplasia. A report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Boothyrod, A.E.; Hall, C.M.

    1988-10-01

    Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests more widespread mesodermal abnormality. (orig./GDG).

  3. Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome

    International Nuclear Information System (INIS)

    There appears to be an increased incidence of hypoplasia of the odontoid in Hurler's syndrome. As this predisposes to atlanto-axial subluxation, it should be sought in this mucopolysaccharidosis, as well as in Morquio's syndrome. (orig.)

  4. Is vertebral artery hypoplasia a predisposing factor for posterior circulation cerebral ischemic events? A comprehensive review.

    Science.gov (United States)

    Katsanos, Aristeidis H; Kosmidou, Maria; Kyritsis, Athanassios P; Giannopoulos, Sotirios

    2013-01-01

    Vertebral artery hypoplasia is not currently considered an independent risk factor for stroke. Emerging evidence suggest that vertebral artery hypoplasia may contribute to posterior circulation ischemic events, especially when other risk factors coexist. In the present literature review, we present published data to discuss the relationship between a hypoplastic vertebral artery and posterior circulation cerebral ischemia. Despite difficulties and controversies in the accurate definition and prevalence estimation of vertebral artery hypoplasia, ultrasound studies reveal that the reduced blood flow observed ipsilateral to the hypoplastic vertebral artery may result in local cerebral hypoperfusion and subsequent focal neurological symptomatology. That risk of cerebral ischemia is related to the severity of the hypoplasia, suggesting that the smaller of paired arteries are more vulnerable to occlusion. Existing cohort studies further support clinical observations that hypoplastic vertebral artery enhances synergistically the vascular risk for posterior circulation ischemic events and is closely associated with both atherosclerotic and prothrombotic processes.

  5. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ) or thinning of the bones ( osteoporosis ). Adrenal hypoplasia ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  6. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Jennifer L. Flint

    2013-01-01

    Full Text Available We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH. The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS locus and the AHC locus on the X chromosome revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

  7. Enamel hypoplasia and its role in identification of individuals: A review of literature.

    Science.gov (United States)

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  8. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  9. Bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in five painted storks.

    Science.gov (United States)

    Weber, Martha A; Terrell, Scott P; Neiffer, Donald L; Miller, Michele A; Mangold, Barbara J

    2002-08-01

    Five painted storks were treated with fenbendazole for 5 days for internal parasitism. Four birds died following treatment. Profound heteropenia was a consistent finding in all samples evaluated; additionally, the 1 surviving bird had progressive anemia. Consistent necropsy findings in the 4 birds that died were small intestinal crypt cell necrosis and severe bone marrow depletion and necrosis. Fenbendazole has been associated with bone marrow hypoplasia and enteric damage in mammals and other species of birds. The dosages of fenbendazole used in birds are often substantially higher than those recommended for mammals, which may contribute to bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in birds.

  10. Turner's hypoplasia and non-vitality: A case report of sequelae in permanent tooth

    OpenAIRE

    2010-01-01

    Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner′s hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and ...

  11. Interstitial pulmonary emphysema in ventilated neonates

    International Nuclear Information System (INIS)

    106 (15.7%) of 675 artificially ventilated newborn developed interstitial pulmonary emphysema (PIE). Basic lung diseases were: IRDS, neonatal pneumonia, shock lung, meconium aspiration, hypoplasia of the lungs and other miscellaneous disorders of the chest. PIE developed in 68% of patients within 8 hours following artificial respiration. At the beginning of PIE both lungs were concerned in 41.5% of patients, one lobe of both lungs was affected in 32.1%. PIE was located in one lung in 8.5% and in only one lobe in 17.9%. Maximum of PIE was seen within 5 days after initiating respiration in 76.7% of the patients. Persistent PIE developed in 28.7% of the patients. Persistent PIE of both lungs was seen in 11 cases, PIE of one lung in 8 cases and persistent lobar emphysema in another 8. Pulmonary pseudocysts developed in 22 (20.8%) of the patients. (orig.)

  12. Pulmonary Fibrosis

    Science.gov (United States)

    Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This ... blood may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue ...

  13. Learn About Pulmonary Fibrosis

    Science.gov (United States)

    ... www.lung.org > Lung Health and Diseases > Lung Disease Lookup > Pulmonary Fibrosis Learn About Pulmonary Fibrosis Pulmonary fibrosis is ... while processing XML file."); } }); } } --> Blank Section Header Lung Disease Lookup Pulmonary Fibrosis Learn About Pulmonary Fibrosis Pulmonary Fibrosis Symptoms, ...

  14. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Science.gov (United States)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  15. CARTILAGE HAIR HYPOPLASIA, METAPHYSEAL CHONDRODYSPLASIA TYPE MCKUSICK - DESCRIPTION OF 7 PATIENTS AND REVIEW OF THE LITERATURE

    NARCIS (Netherlands)

    VANDERBURGT, [No Value; HARALDSSON, A; OOSTERWIJK, JC; VANESSEN, AJ; WEEMAES, C; HAMEL, B

    1991-01-01

    We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal

  16. Concurrent occipital hypoplasia, occipital dysplasia, syringohydromyelia, and hydrocephalus in a Yorkshire terrier

    OpenAIRE

    Cagle, Laura

    2010-01-01

    Magnetic resonance imaging of a 7.5-year-old neutered male Yorkshire terrier with mild generalized ataxia and intermittent neck scratching led to a diagnosis of caudal occipital malformation and syringohydromyelia. Surgical exploration led to a diagnosis of occipital dysplasia with concurrent occipital hypoplasia. Following a dorsal laminectomy of the first cervical vertebra there was no progression or improvement a month later.

  17. Bilateral mandibular distraction in micrognathism or hypoplasia of mandible, hazrat fatemeh hospital

    Directory of Open Access Journals (Sweden)

    Mohammad-Esmaiil Hassani

    2014-01-01

    Conclusion: The Bilateral Distraction Oseogenesis method can bring forwards the retruded mandible effectively and its results has no difference with older methods. It is an effective and reliable procedure for hypoplasia of Mandible and the results are comparable with older methods.

  18. Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.

    NARCIS (Netherlands)

    Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A. van der; Otten, B.J.

    2004-01-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe growth retardation and impaired immunity. We studied the effects of growth hormone treatment on growth parameters and the immune system in four children with CHH. The effe

  19. Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Katorza, Eldad; Nahama-Allouche, Catherine; Ducou le Pointe, Hubert; Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Castaigne, Vanina [Hopital Saint-Antoine, Service de Gynecologie-Obstetrique, Paris (France); Gonzales, Marie; Marlin, Sandrine [Hopital d' Enfants Armand-Trousseau, Service de Genetique et Embryologie medicales, Paris (France); Galliani, Eva [Hopital d' Enfants Armand-Trousseau, Service de Chirurgie maxillo-faciale, Paris (France); Jouannic, Jean-Marie; Rosenblatt, Jonathan [Hopital d' Enfants Armand-Trousseau, Service de Gynecologie-Obstetrique, Centre pluridisciplinaire de diagnostic prenatal, Paris (France)

    2011-05-15

    Analysis of the middle ear with fetal MRI has not been previously reported. To show the contribution of fetal MRI to middle ear imaging. The tympanic cavity was evaluated in 108 fetal cerebral MRI examinations (facial and/or cerebral malformation excluded) and in two cases, one of Treacher Collins syndrome (case 1) and the other of oculo-auriculo-vertebral (OUV) spectrum (case 2) with middle ear hypoplasia identified by MRI at 27 and 36 weeks' gestation, respectively. In all 108 fetuses (mean gestational age 32.5 weeks), the tympanic cavity and T2 hypointensity related to the ossicles were well visualised on both sides. Case 1 had micro/retrognathia and bilateral external ear deformity and case 2 had retrognathism with a left low-set and deformed ear. MRI made it possible to recognize the marked hypoplasia of the tympanic cavity, which was bilateral in case 1 and unilateral in case 2. Both syndromes are characterized by craniofacial abnormalities including middle ear hypoplasia, which cannot be diagnosed with US. The middle ear cavity can be visualized with fetal MRI. We emphasize the use of this imaging modality in the diagnosis of middle ear hypoplasia. (orig.)

  20. Detection of hypoplasia of bony cochlear nerve canal by virtual endoscopy: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Quan Yong; Wu Lebin; Gong Wuxian; Gong Ruozhen (Shandong Medical Imaging Research Institute, Shandong Univeristy, Jinan, Shandong (China)), email: grzh99@yahoo.com.cn; Zu Zushan (Dept. of Radiology, Wendeng Central Hospital, Weifang Medical College, Weihai (China))

    2011-09-15

    Background: Dimensions of the bony cochlear nerve canal (BCNC) have been proposed as a potential diagnostic standard for hypoplasia of BCNC, but the standard remains inconsistent. We have previously found that a helix-like shape appears in normal BCNCs at VE images, whereas, the sign does not appear in some hypoplastic BCNCs. Purpose: To retrospectively examine the feasibility of computed tomographic (CT) virtual endoscopy (VE) in the evaluation of hypoplasia of BCNC on the basis of absence of a helix-like shape. Material and Methods: Twenty ears in 14 consecutive patients (mean age 5.5 years, range 1-15 years, 6 boys, 8 girls) diagnosed with hypoplasia of BCNC were included in this work. One hundred ears in 50 gender- and age-matched individuals (mean age 6.6 years, range 1-15 years, 29 boys, 21 girls) without inner ear disease and internal auditory canal (IAC) malformations served as controls. The presence or absence of a helix-like shape was evaluated by two independent reviewers. The value of VE for the diagnosis of hypoplasia of BCNC was assessed with clinical results and routine radiologic evaluation as the reference standard. Inter-observer agreement was calculated. Sensitivity, specificity, and accuracy were selected to test the diagnostic ability of the VE. Results: Absence of a helix-like shape was found in the cochlear area of 17 of 20 ears in patients with hypoplasia of BCNC but in none of the control subjects. Inter-observer agreement was substantial (? = 0.773). The diagnostic rates of absence of a helix-like shape for hypoplasia of BCNC in terms of sensitivity, specificity, and accuracy were 85%, 100%, and 98%, respectively. There were significant differences between the two groups with respect to VE findings for absence of a helix-like shape (P < 0.001). Conclusion: The absence of a helix-like shape at VE images may be used as a potentially useful sign in the diagnosis of hypoplasia of BCNC

  1. Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome

    Directory of Open Access Journals (Sweden)

    Rohit S Loomba

    2015-01-01

    Full Text Available Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome.

  2. A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

    Directory of Open Access Journals (Sweden)

    Nihat Demir

    2015-01-01

    Full Text Available Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.

  3. Ischemic stroke in patient with existing congenital hypoplasia of the middle cerebral artery

    International Nuclear Information System (INIS)

    Presented is a clinical case of a woman 29 years old with ischemic stroke (IS), which has developed abruptly in existing congenital hypoplasia and occlusion of the middle cerebral artery. There are no other well or less well documented risk factors for cerebrovascular disease. In family history noted that the father of the patient died suddenly at the age of 45 years from stroke, also without evidence of vascular disease. On magnetic resonance imaging (MRI) of the brain is found high signal zone in the left nucleus lentiformis. We discussed the possibilities for implementing conventional angiography and eventually surgical procedures unfortunately rejected due to the high risk to the patient. Key words: Ischemic Stroke. Magnetic Resonance Imaging. Hypoplasia

  4. The pathogenesis of renal dysplasia. I. Quantification of hypoplasia and dysplasia.

    Science.gov (United States)

    Schwarz, R D; Stephens, F D; Cussen, L J

    1981-09-01

    In order to assess the relative effects of abnormal ureteric orifice position and abnormal urodynamics on the morphogenesis of hypoplasia and dysplasia in kidneys obtained from infants, we devised a method of quantifying the renal structures. The method was based on radial glomerular counts which ranged from zero to normal (seven to nine), a score for dysplastic structures, and the ratio of normal to abnormal tissues present. These three values, when plotted against each other, correlated closely. The glomerular count, with occasional minor adjustment for inconsistencies, was the best parameter of hypodysplasia. Severe to moderate grades of hypodysplasias fell in the low and middle ranges and hypoplasia through to normal in the highest range. By grading kidneys in this way, we were able to compare the effects of ureteral ectopy and abnormal urinary dynamics on the developing kidney. PMID:7024184

  5. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

    Science.gov (United States)

    Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony

    2013-12-01

    Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging. PMID:24047924

  6. Regional hypoplasia of somatosensory cortex in growth-retarded mice (grt/grt).

    Science.gov (United States)

    Sawada, Kazuhiko; Saito, Shigeyoshi; Sugasawa, Akari; Sato, Chika; Aoyama, Junya; Ohara, Naoko; Horiuchi-Hirose, Miwa; Kobayashi, Tetsuya

    2016-07-01

    Growth-retarded mouse (grt/grt) is a spontaneous mutant that is known as an animal model for primary congenital hypothyroidism caused by resistance to TSH signaling. The regional pattern of cerebral cortical hypoplasia was characterized in grt/grt mice. Ex vivo computed tomography (CT)-based volumetry was examined in four regions of the cerebral cortex, i.e., prefrontal, frontal, parietal and occipito-temporal regions, which were demarcated by structural landmarks on coronal CT images. A region-specific reduced volume of the parietal cortical region covering most of the somatosensory cortex was noted in grt/grt mice rather than in both heterozygous (grt/+) and wild-type (+/+) mice. We concluded that the cortical hypoplasia in grt/grt was seen in identical cortical regions corresponding to human congenital hypothyroidism. PMID:26915353

  7. Nonsyndromic hemimandibular hypoplasia: A case report with a short review of the literature

    Directory of Open Access Journals (Sweden)

    Sourav Bhattacharya

    2015-01-01

    Full Text Available Mandibular hypoplasia (MH is a condition, which characterizes deviation in the mandibular growth patterns causing functional and esthetic alterations. MHs encountered in the craniofacial region may be of three types: Congenital, developmental and acquired. Majority of the MHs are associated with syndromes with very little emphasis on the "nonsyndromic" category. Furthermore, the hypoplasias generally have a bilateral manifestation on the mandible. We focus on the nonsyndromic category and report a case of isolated unilateral MH in a 17-year-old boy with obvious facial disfigurement but with no association to any syndrome. The objective of this presentation is to highlight the rarity, possible manifestations and diagnostic approach of the nonsyndromic group.

  8. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    Science.gov (United States)

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-10-13

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth.

  9. Living with Pulmonary Fibrosis

    Science.gov (United States)

    ... www.lung.org > Lung Health and Diseases > Lung Disease Lookup > Pulmonary Fibrosis Living With Pulmonary Fibrosis What to Expect ... while processing XML file."); } }); } } --> Blank Section Header Lung Disease Lookup Pulmonary Fibrosis Learn About Pulmonary Fibrosis Pulmonary Fibrosis Symptoms, ...

  10. A case of superior segmental optic hypoplasia accompanied by a glaucomatous optic neuropathy

    OpenAIRE

    Ohguro, Hiroshi

    2008-01-01

    Ikuyo Ohguro, Hiroshi OhguroDepartment of Ophthalmology, Sapporo Medical University School of Medicine, Sapporo, Hokkaido, JapanAbstract: This is the first case report of a bilateral superior segmental optic hypoplasia (SSOH) accompanied by a glaucomatous optic neuropathy (GON). A 47-year-old man incidentally diagnosed as having bilateral SSOH, simultaneously disclosed glaucomatous optic disc appearances, including enlargements of the cup of the optic nerve heads and a thinning of the infero-...

  11. Interproximal contact hypoplasia in primary teeth: A new enamel defect with anthropological and clinical relevance.

    Science.gov (United States)

    Lukacs, John R.

    1999-11-01

    This study reports the prevalence, distribution, and expression of enamel defects in a sample of primary teeth (n = 225) from a prehistoric site in western India (1400-700 BC). Five enamel surfaces of individual, isolated primary teeth were observed for surface defects using a binocular stereomicroscope with variable power of magnification (8-20x). Standards for evaluating dental enamel defects (DDE) recommended by the Fédération Dentaire International (FDI) were employed. Details of defect expression were also recorded, including size, shape, and surface of tooth crown affected. Hypoplastic enamel defects were observed in 28% of teeth, but the distribution and expression of defects was not random. More than 50% of canine teeth had hypoplastic defects (HD); incisors and molar teeth exhibited far fewer HD. The buccal surface of canines was the most commonly affected crown surface. Areas of missing enamel were also common on the mesial and distal surfaces of canines and incisors and on the mesial surface of molar teeth. The high frequency of enamel defects found on interproximal crown surfaces warrants a label, and the name interproximal contact hypoplasia (IPCH) is proposed. Linear enamel hypoplasia (LEH) was absent from this primary dental sample. IPCH is more frequent in mandibular than in maxillary teeth, but no side preference was detected. In canine teeth, buccal hypoplasias (localized hypoplasia of primary canines; LHPC) were not positively correlated with interproximal hypoplastic defects. The etiology of IPCH may involve mesial compaction of developing teeth due to slow longitudinal growth of the jaws. Episodic bone remodeling results in ephemeral fenestrae in the mesial and distal walls of the dental crypt permitting tooth-tooth contact and disruption of amelogenesis. IPCH prevalence decreases across the subsistence transition from sedentary Early Jorwe agriculturalists to seminomadic Late Jorwe hunters and foragers, but the difference is not

  12. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    Directory of Open Access Journals (Sweden)

    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  13. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

    Science.gov (United States)

    Rocas, Delphine; Alix, Eudeline; Michel, Jessica; Cordier, Marie-Pierre; Labalme, Audrey; Guilbert, Hélène; Till, Marianne; Schluth-Bolard, Caroline; de Haas, Pascale; Massardier, Jérôme; Portes, Vincent des; Edery, Patrick; Touraine, Renaud; Guibaud, Laurent; Vasiljevic, Alexandre; Sanlaville, Damien

    2013-05-01

    We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus. PMID:23416624

  14. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    Science.gov (United States)

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  15. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

    Science.gov (United States)

    Bostwick, Bret; Fang, Ping; Patel, Ankita; Sutton, V Reid

    2016-03-01

    Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. All disease characteristics were analyzed and compiled in aggregate to aid in development of clinical diagnostic criteria. Medical history data unexpectedly revealed that the majority of patients (87%) had undergone tonsillectomy for obstructive sleep apnea, which exposed an important co-morbidity that is not well described in the literature, but managing physicians should be made aware of. Fifteen of the 18 patients underwent molecular sequencing of PORCN to detect heterozygous or mosaic mutations. Where no mutation was detected, we performed exon-targeted chromosomal microarray to evaluate for large deletions of the PORCN gene region. We detected a pathogenic genotype in 14 of 15 patients, including one novel chromosomal deletion and four novel PORCN sequence variants. Here, we provide phenotypic summary analysis of 18 patients with focal dermal hypoplasia and propose clinical diagnostic criteria. PMID:26853229

  16. Pulmonary studies

    International Nuclear Information System (INIS)

    Radionuclide studies of the lung are described, as regards perfusion studies, ventilation studies and physiological considerations. The four principal applications for radionuclide studies of the lungs are outlined and the uses of these discussed in relation to particular entities including pulmonary embolic disease, congestive heart failure, asthma, acute, nonasthmatic, bronchial obstruction, chronic pulmonary disease and cancer. (Auth./C.F.)

  17. Enamel hypoplasia in the deciduous teeth of great apes: variation in prevalence and timing of defects.

    Science.gov (United States)

    Lukacs, J R

    2001-11-01

    The prevalence of enamel hypoplasia in the deciduous teeth of great apes has the potential to reveal episodes of physiological stress in early stages of ontogenetic development. However, little is known about enamel defects of deciduous teeth in great apes. Unresolved questions addressed in this study are: Do hypoplastic enamel defects occur with equal frequency in different groups of great apes? Are enamel hypoplasias more prevalent in the deciduous teeth of male or female apes? During what phase of dental development do enamel defects tend to form? And, what part of the dental crown is most commonly affected? To answer these questions, infant and juvenile skulls of two sympatric genera of great apes (Gorilla and Pan) were examined for dental enamel hypoplasias. Specimens from the Powell-Cotton Museum (Quex Park, UK; n = 107) are reported here, and compared with prior findings based on my examination of juvenile apes at the Cleveland Museum of Natural History (Hamman-Todd Collection; n = 100) and Smithsonian Institution (National Museum of Natural History; n = 36). All deciduous teeth were examined by the author with a x10 hand lens, in oblique incandescent light. Defects were classified using Fédération Dentaire International (FDI)/Defects of Dental Enamel (DDE) standards; defect size and location on the tooth crown were measured and marked on dental outline charts. Enamel defects of ape deciduous teeth are most common on the labial surface of canine teeth. While deciduous incisor and molar teeth consistently exhibit similar defects with prevalences of approximately 10%, canines average between 70-75%. Position of enamel defects on the canine crown was analyzed by dividing it into three zones (apical, middle, and cervical) and calculating defect prevalence by zone. Among gorillas, enamel hypoplasia prevalence increases progressively from the apical zone (low) to the middle zone to the cervical zone (highest), in both maxillary and mandibular canine teeth

  18. Pulmonary Atresia

    Science.gov (United States)

    ... to repair the defect. Return to main topic: Congenital Heart Disease See on other sites: MedlinePlus https://medlineplus.gov/ency/article/001091.htm Pulmonary atresia American Heart Association www. ...

  19. Pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Anton Vonk Noordegraaf

    2016-03-01

    Full Text Available In 2015, more than 800 papers were published in the field of pulmonary hypertension. A Clinical Year in Review article cannot possibly incorporate all this work and needs to be selective. The recently published European guidelines for the diagnosis and treatment of pulmonary hypertension contain an inclusive summary of all published clinical studies conducted until very recently. Here, we provide an overview of papers published after the finalisation of the guideline. In addition, we summarise recent advances in pulmonary vasculature science. The selection we made from the enormous amount of published work undoubtedly reflects our personal views and may not include all papers with a significant impact in the near or more distant future. The focus of this paper is on the diagnosis of pulmonary arterial hypertension, understanding the success of combination therapy on the right ventricle and scientific breakthroughs.

  20. Pulmonary hypertension

    Science.gov (United States)

    ... that damage the lungs, such as scleroderma and rheumatoid arthritis Birth defects of the heart Blood clots in the lung ( pulmonary embolism ) Heart failure Heart valve disease HIV infection Low oxygen levels in the blood ...

  1. Pulmonary sequestration

    International Nuclear Information System (INIS)

    Pulmonary sequestration is a congenital affection consisting in the presence of a cystic mass of no-functional pulmonary tissue without an obvious communication with tracheobronchial tree and that receives all or most of its bloodstream of the anomalous vessels from systemic circulation. Taking into account that presentation of this affection is rare compared to other pulmonary affections (between the 1% and the 2% of all pulmonary resections) and that also the more usual is its definitive treatment before adulthood. The case of man aged 44 is presented coming to consultation due to frequent episodes of pneumonias from more 10 years ago diagnosed as a bronchiectasis. The more significant facts of embryology origin of this affection including: anatomical and pathological features, imaging diagnosis, surgical treatment details, and postoperative course. (author)

  2. PULMONARY SCEDOSPORIOSIS

    Directory of Open Access Journals (Sweden)

    SEVERO Luiz Carlos

    1998-01-01

    Full Text Available A case of a solitary pulmonary nodule due to Scedosporium apiospermum (Pseudallescheria boydii is related. A review of the pertinent literature was done and, in addition, similar lesions caused by other opportunistic fungi are commented.

  3. Pulmonary Edema

    OpenAIRE

    Tanser, Paul H.

    1981-01-01

    The physician who deals with pulmonary edema from a pathophysiologic basis will seldom make a diagnostic or therapeutic error. Recent additions to preload and afterload therapy have greatly helped in the emergency and ambulatory treatment of pulmonary edema due to left heart failure. Careful follow-up and patient self-monitoring are the most effective means of reducing hospitalization of chronic heart failure patients.

  4. Pulmonary hypertension

    OpenAIRE

    Anton Vonk Noordegraaf; Joanne A. Groeneveldt; Harm Jan Bogaard

    2016-01-01

    In 2015, more than 800 papers were published in the field of pulmonary hypertension. A Clinical Year in Review article cannot possibly incorporate all this work and needs to be selective. The recently published European guidelines for the diagnosis and treatment of pulmonary hypertension contain an inclusive summary of all published clinical studies conducted until very recently. Here, we provide an overview of papers published after the finalisation of the guideline. In addition, we summaris...

  5. Prostaglandin E2 decreases fetal breathing movements, but not pulmonary blood flow, in fetal sheep.

    Science.gov (United States)

    Savich, R D; Guerra, F A; Lee, C C; Kitterman, J A

    1995-04-01

    Fetal breathing movements are vital for normal fetal lung growth. Inhibition of these fetal breathing movements is associated with pulmonary hypoplasia. Pulmonary hypoplasia also occurs subsequent to alterations in other factors, such as a significant decrease in pulmonary blood flow. The prostaglandin system is known to have profound effects on both fetal breathing movements and on the pulmonary vascular system. We studied six late-gestation chronically instrumented fetal sheep by using an electromagnetic flow transducer around the left pulmonary artery to determine whether a decrease in fetal breathing movements, subsequent to a continuous infusion of prostaglandin E2 (PGE2), is associated with a decrease in pulmonary blood flow. A continuous PGE2 infusion of 0.88 +/- 0.11 microgram.kg-1.min-1 over 120 min led to a significant decrease in fetal breathing movements (control 40.5 +/- 3.6%, infusion 3.3 +/- 1.6%; P < 0.001). In contrast, the PGE2 infusion had no effect on mean left pulmonary artery blood flow (control 27.7 +/- 9.3 ml.min-1.kg-1, infusion 23.8 +/- 7.0 ml.min-1.kg-1. The PGE2 infusion demonstrated central effects in the percentage of time the fetus was in high-voltage electrocortical activity (control 41.9 +/- 2.5%, infusion 56.5 +/- 5.4%; P < 0.05) and in the amount of time spent in low-voltage electrocortical activity without fetal breathing movements (control 17.5 +/- 2.7%, infusion 40.2 +/- 4.8%; P < 0.05). A significant decrease in the fetal heart rate during the infusion was seen with no effect on either the systemic or pulmonary blood pressure.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7615458

  6. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  7. [Aplasia and hypoplasia of the side of the nose in the Mocha Period and today].

    Science.gov (United States)

    Pirsig, W

    1989-01-01

    In earthenware vessels from the Moche period (200-700 A.D.) pathological findings of nasal deformities have been depicted in a realistic manner. By means of two recent casuistics and of two portrait vessels of Old Peru it is demonstrated how exactly the nasal pathology was observed by the artists of the Moche period. The first example shows a unilateral hypoplasia of the nasal ala due to injury in early childhood, the second example shows a bilateral aplasia of the nasal alae due to an intrauterine growth disturbance. PMID:2690796

  8. Types of Pulmonary Hypertension

    Science.gov (United States)

    ... from the NHLBI on Twitter. Types of Pulmonary Hypertension The World Health Organization divides pulmonary hypertension (PH) ... are called pulmonary hypertension.) Group 1 Pulmonary Arterial Hypertension Group 1 PAH includes: PAH that has no ...

  9. Magnetic resonance imaging compared with echocardiography in the evaluation of pulmonary artery abnormalities in children with tetralogy of Fallot following palliative and corrective surgery

    International Nuclear Information System (INIS)

    Background. Abnormalities of the pulmonary arteries following palliative or corrective surgery for tetralogy of Fallot (TOF) are common. Our purpose was to compare the usefulness of magnetic resonance imaging (MRI) and echocardiography in the post- operative evaluation of the pulmonary arteries in children with TOF. Objective. Our hypothesis was that MRI is more sensitive than echocardiography in the detection of branch pulmonary artery abnormalities in children with TOF. Materials and methods. Pulmonary artery MRI and echocardiography were performed in 20 children following palliative and/or corrective surgery for TOF. MRI and echocardiography were compared in their ability to detect abnormalities of the pulmonary arteries. Angiographic or surgical correlation was available in 15 children. A perfusion scan for confirmation of pulmonary artery patency was available in one additional child. Results. Abnormalities of the branch pulmonary arteries identified by MRI included: absence or occlusion (2), focal stenosis (15), hypoplasia (2), aneurysm (1), and non-confluence (1). Echocardiography could not adequately visualize the right and left branch pulmonary arteries in eight and ten children, respectively. Echocardiography missed stenosis in 13 branch pulmonary arteries, patency of hypoplastic pulmonary arteries in two children, non-confluence of the pulmonary arteries in one child, and a left pulmonary artery aneurysm in one child. Abnormalities identified by MRI were confirmed in 16 children by angiography, surgery or perfusion scan. Conclusion. MRI is more sensitive than echocardiography for the evaluation of branch pulmonary artery abnormalities in children following surgery for TOF. (orig.)

  10. Pulmonary embolism

    International Nuclear Information System (INIS)

    Pulmonary embolism is a common medical problem whose incidence is likely to increase in our aging population. Although it is life-threatening, effective therapy exists. The treatment is not, however, without significant complications. Thus, accurate diagnosis is important. Unfortunately, the clinical manifestations of pulmonary embolism are nonspecific. Furthermore, in many patients the symptoms of an acute embolism are superimposed on underlying chronic heart or lung disease. Thus, a high index of suspicion is needed to identify pulmonary emboli. Laboratory parameters, including arterial oxygen tensions and electrocardiography, are as nonspecific as the clinical signs. They may be more useful in excluding another process than in diagnosing pulmonary embolism. The first radiologic examination is the chest radiograph, but the clinical symptoms are frequently out of proportion to the findings on the chest films. Classic manifestations of pulmonary embolism on the chest radiograph include a wedge-shaped peripheral opacity and a segmental or lobar diminution in vascularity with prominent central arteries. However, these findings are not commonly seen and, even when present, are not specific. Even less specific findings include cardiomegaly, pulmonary infiltrate, elevation of a hemidiaphragm, and pleural effusion. Many patients with pulmonary embolism may have a normal chest radiograph. The chest radiograph is essential, however, for two purposes. First, it may identify another cause of the patient's symptoms, such as a rib fracture, dissecting aortic aneurysm, or pneumothorax. Second, a chest radiograph is essential to interpretation of the radionuclide V/Q scan. The perfusion scan accurately reflects the perfusion of the lung. However, a perfusion defect may result from a variety of etiologies. Any process such as vascular stenosis or compression by tumor may restrict blood flow. 84 references

  11. Trends in pediatric ostomy surgery: intestinal diversion for necrotizing enterocolitis and biliary diversion for biliary hypoplasia syndromes.

    Science.gov (United States)

    Bastawrous, A A; Torosian, M B; Statter, M B; Arensman, R M

    1995-11-01

    Ostomies are placed in children for different indications than in the older population. Many ostomies of childhood are placed because of congenital or neonatal problems that require temporary or long-term diversion to stabilize the neonatal patient. Necrotizing enterocolitis, the most common reason for placement of neonatal colostomies and ileostomies, is increasing in frequency as more prematurely born infants survive. Recently, there has been an increase in treatment of various biliary hypoplasia syndromes with biliary cutaneous diversion. Children with biliary hypoplasia syndromes are a challenging group of patients who frequently can be helped by ostomies. This article reviews current information on biliary cutaneous diversion for the biliary hypoplasia syndromes and intestinal diversion for necrotizing enterocolitis.

  12. Pulmonary imaging

    International Nuclear Information System (INIS)

    Studies in pulmonary imaging predominantly depict the distribution of pulmonary perfusion or the ventilation-perfusion balance for the detection of pulmonary embolism, obstructive airway disease, and lung carcinoma. Much work has been done using 133Xe to study both regional ventilation and blood flow. This work has led to a greater understanding of regional blood flow and ventilation, of lung anatomy and morphometry, of the mechanical factors that influence lung function, and of the biochemical and other nonrespiratory functions of the lung. The recent development of emission tomography and the potential for receptor- and function-oriented radiopharmaceuticals have allowed several important regional physiologic processes to be measured. The physical parameters measured in radionuclide emission studies are the temporal and spatial relations of the distribution of tracer in the lungs. Tracers that are diffusible will wash into and out of the lungs at a rate proportional not only to flow but also to membrane permeability. If the radionuclide label is attached to microspheres or macro-aggregates, the amount lodging in any portion of the lung can be related to relative flow in the lung. Metabolism of the lung is reflected by the rate of extraction and disappearance of various labeled radiopharmaceuticals. The problems encountered in assessing the value of ventilation-perfusion scans for the diagnosis of pulmonary embolism are concerned not only with improving specificity, but also with better estimation of the prior probability of pulmonary embolism in the patient being evaluated

  13. Chronic hepatitis C infection in a patient with bone marrow hypoplasia

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Chronic hepatitis C virus (HCV) infection is associated with multifarious extra-hepatic manifestations; the most described and discussed being mixed cryoglob- ulinemia which is strongly related to B-cell lympho- proliferative disorders (LPDs). We present a case of chronic HCV infection and mixed cryoglobulinemia, with minimal liver involvement. The case is a 53-year- old patient who was diagnosed as having bone marrow hypoplasia at the age of three. She received several blood transfusions to normalize her haemoglobin. At the age of 31, she was diagnosed with rheumatoid ar- thritis on account of her diffuse joint pain and inflam- mation, elevated rheumatoid factor (RF) and Raynaud's phenomenon. Twenty years later, monoclonal gam- mopathy of IgG Lambda (one year later, changed to IgM Kappa) was detected during a routine examina- tion. A bone marrow biopsy showed hypoplasia, Kappa positive B-lymphocytes and low-grade malignant lym- phoma cells. PCR of the bone marrow aspirate was not contributory. No treatment was initiated owing to her poor bone marrow function and she is under regular follow-up.

  14. Potential risk factors in systemic hypoplasia and dental caries at odontogenesis stage

    Directory of Open Access Journals (Sweden)

    Kovach I.V.

    2013-03-01

    Full Text Available Lesion of hard dental tissue with caries process and lesions not connected with caries present overwhelming majority of dental diseases. Causes leading to damage of enamel integrity and dentin with progressing demineralization are known; they allow to choose justified method of primary prophylaxis. Along with it, etiology and pathogenesis of enamel lesions with demineralization signs remains unexplored. Epidemiologic study of prevalence, incidence and severity of lesion of hard dental tissues in 330 pupils, who constantly live on endemic iodine-defficient territory, of three zones – mountain zone, foothill and valley. For comparison, schoolchildren migrated to this territory 2-3 years after birth, and children – residents of favorable as for iodine level in drinking water were examined, 30 children in each group. It was established, that overwhelming number of schoolchildren of endemic zone suffer from endemic goiter of various severity, which sufficiently impacts on protein-mineral ratio of the organism, bone skeleton and teeth including. It was also established, that residents of three various levels of iodine consumption are prone to development of multiple dental caries and systemic enamel hypoplasia. Children, residents of mountain zone suffer the most, with simultaneous lesion of thyroid gland. The role of endemic goiter in systemic dental enamel hypoplasia and multiple caries, which changes protein matrix, negatively impacts on odontogenesis and mineralization degree is underlined.

  15. Managing elevated intraocular pressure in a patient with optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Karina Marcovitch

    2009-10-01

    Full Text Available Karina Marcovitch, Joseph SowkaNova Southeastern University, College of Optometry, Davie, FL, USABackground: Optic nerve hypoplasia (ONH is a congenital optic disc anomaly, often manifesting with visual deficits.Case: A 51-year-old woman with a history of bilateral amblyopia was referred for glaucoma evaluation due to elevated intraocular pressure. The patient demonstrated the classic nerve head appearance of bilateral ONH with “double ring sign” and indistinguishable cupping. Despite demonstrating functional and structural measurements consistent with glaucomatous optic neuropathy, it was felt that these deficits were more likely longstanding and secondary to ONH. Additionally, in the absence of any amblyogenic factors, it was also concluded that the patient’s bilateral “amblyopia” was the result of ONH. In that the patient presented with a significant and modifiable risk factor for glaucomatous development and pre-existing retinal nerve fiber layer and visual field defects, the patient was treated with topical glaucoma medications. Conclusion: Diagnosing glaucoma in patients with concurrent anomalies is a clinical conundrum. This report provides a review of ONH with emphasis on the common misdiagnosis of amblyopia in these patients as well as presenting a strategy for diagnosing and managing glaucoma in patients with preexisting, confounding conditions. Keywords: optic nerve hypoplasia, glaucoma, visual field loss, scanning laser polarimetry, threshold automated perimetry

  16. [Aplasia and hypoplasia of the optic nerve. Comparison of 2 cases].

    Science.gov (United States)

    Pisaturo, C; Dolci, A; Pessagno, A; Padua, G L; Dassio, D A; De Negri, M

    1996-10-01

    Hypoplasia and aplasia of the optic nerve are congenital anomalies characterized respectively by a marked volume reduction (very small papilla, often identifiable only as a rosy-yellowish area from which the retinal vessels emerge) and by the absence of the optic disk (absence of the nerve and mainly of its vessels) and of the visual functions. These anomalies are often associated with malformations of the central nervous system and of the ocular structures. The defects originate in the embryonal period due to the arrested development of the mesodermal component towards the head of the optic nerve. The aim of this study is to try to interpret the different clinical manifestations of the disease by observing two cases (a female and a male) with a clinical picture of aplasia and hypoplasia of the optic nerve respectively. Both cases presented the following clinical characteristics: developmental defects of the optic nerve, severe microcephaly, positive IgG antibodies against CMV. The association of the optic nerve defect with microcephaly is due to the embryogenic origin of the optic vescicle by prosencephalon. The resulting clinical picture is probably the outcome of an interfering process that the authors have presumed in CMV intrauterine infection, after having excluded the most frequent teratogenic agents (maternal diabetes, tabagism, intake of alcohol ad drugs). Moreover, the different degree of ocular involvement and the different time of onset of the intrauterine pathogenic insult in the two cases could account for the different clinical pictures. PMID:9053727

  17. Restoration of incisal half with edge-up technique using ceramic partial crown in turner's hypoplasia: A case report.

    Science.gov (United States)

    Hegde, Shreya; Kundabala, M

    2014-01-01

    This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement. PMID:24554869

  18. Pulmonary histiocytosis

    Directory of Open Access Journals (Sweden)

    Milenković Branislava

    2013-01-01

    Full Text Available Introduction. Langerhans cell histiocytosis encompasses a group of disorders of unknown origin with different clinical presentations and outcomes. It is characterized by infiltration of the involved tissues by large numbers of Langerhans cells, often organized into granulomas. The accumulation of these cells causes the classic lytic bone lesions, skin rashes, lymphadenopathy, splenomegaly, and dysfunction of organ such as the pituitary gland, lungs, liver, and bone marrow. Pulmonary histiocytosis. Adult pulmonary Langerhans cell histiocytosis is a rare disorder of unknown etiology. It occurs predominantly in male smokers, with an incidence peak between 20 and 40 years of age. High-resolution computed tomography of the chest can show nodules, cavitated nodules, and thickand thin-walled cysts. The definite diagnosis of pulmonary Langerhans cell histiocytosis requires identification of Langerhans’ cell granulomas infiltrating and destroying distal bronchioles, which is usually achieved by lung biopsy at a site selected by chest high-resolution computed tomography. Treatment. Treatment options for adults have never been clarified by a clinical trial. The published literature provides minimal data on the comparative efficacy of various treatment options which include surgery/curettage, steroids, radiation, and various chemotherapy regimens. The improved understanding of the mechanisms involved in the pathogenesis of pulmonary Langerhans cell histiocytosis should help in the development of specific therapeutic strategies and effective treatment.

  19. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    Directory of Open Access Journals (Sweden)

    Miyake T

    2016-07-01

    Full Text Available Tomoko Miyake,1 Shota Kojima,1 Tetsuya Sugiyama,2 Mari Ueki,1 Jun Sugasawa,1 Hidehiro Oku,1 Kensuke Tajiri,1 Yuka Shigemura,3 Koichi Ueda,3 Atsuko Harada,4 Mami Yamasaki,4 Takumi Yamanaka,4 Hidetsuna Utsunomiya,5 Tsunehiko Ikeda1 1Department of Ophthalmology, Osaka Medical College, Takatsuki City, 2Nakano Eye Clinic of Kyoto Medical Co-operative, Kyoto, 3Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City, 4Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City, 5Department of Radiological Science, International University of Health and Welfare, Graduate School, Fukuoka, Japan Introduction: The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report: A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter and 8 mmHg (Oculus Sinister. B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound

  20. Management of Zinner’s Syndrome Associated with Contralateral Seminal Vesicle Hypoplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Mehdi Kardoust Parizi

    2013-01-01

    Full Text Available A 27-year-old man presented with chronic hematospermia, painful ejaculation, and primary infertility. Physical examination, transrectal ultrasonography, and pelvic magnetic resonance imaging (MRI demonstrated left seminal vesicle cyst, left renal agenesia, and contralateral seminal vesicle hypoplasia. Hormone workup (LH, FSH, prolactin, and testosterone was normal. Sperm analysis showed oligoasthenozoospermia and low ejaculate volume. We performed transurethral resection of the ejaculatory duct (TUR-ED using methylene blue vasography guidance without surgical-related complications. Hematospermia and painful ejaculation completely improved at 2-month followup, and the patient’s wife experienced a missed abortion thereafter. This patient was considered as a rare variant of Zinner’s syndrome and was managed effectively with a less invasive treatment modality (TUR-ED.

  1. Hypodontia and hypoplasia of mandible: A rare defect caused by combination therapy

    Directory of Open Access Journals (Sweden)

    Senthil Kumar

    2013-01-01

    Full Text Available Hypodontia is defined as the developmental absence of one or more tooth and it can present in varying degrees of severity and severe hypodontia has been defined as the absence of six teeth, excluding third molars. Radiation plays an important role in the treatment of head and neck cancer, in spite of its benefits, radiation has several side-effects in the head and neck region. This article highlights a case report, where hypodontia, hypoplasia of mandible, stunded permanent teeth roots, microdontia, inversion of tooth bud were observed in 19 years old patient who was diagnosed with Langerhans cell histiocytosis at her age of 3 years she had received a combination of radiotherapy and chemotherapy for a period of 1 year and radiation of 50 Gy was used in the head and neck region. Radiographs were taken and it revealed abnormal changes in growth and development of bone and teeth.

  2. Rare Case of Unilateral Hypoplasia of Lung with Associated Ventricular Mass in an Adult

    Science.gov (United States)

    Alam, Azad; Iyer, Aparna; Kutty, Jayalakshmi Thelapurath

    2016-01-01

    Hypoplasia of the lung is a rare congenital condition which can be: a) primary i.e. no apparent cause is found; or b) secondary i.e. associated with other congenital anomalies that are implicated in its pathogenesis. These anomalies may involve the diaphragm, cardiovascular, central nervous, urogenital and musculoskeletal system. Patients usually present in neonatal, infancy or childhood period and very rarely in adulthood. Our patient was an adult having a unilateral hypoplastic lung associated with a ventricular mass and to our knowledge this rare combination has never been reported in the English literature; though there are reports of prenatal or newborns with hypoplastic lung and rhabdomyoma of ventricle who did not survive.

  3. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    Science.gov (United States)

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-01

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

  4. Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.

    Science.gov (United States)

    Alkindi, Said; Battin, Malcolm; Aftimos, Salim; Purvis, Diana

    2013-01-01

    A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, hypoplastic nails, omphalocele, bladder exstrophy, renal dilatation, and splayed symphysis pubis. The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome). He was found to have a heterozygous mutation in the PORCN gene. He exhibited the classical features of focal dermal hypoplasia. Fewer than 15% of reported cases are male when it is thought to be due to postzygotic mutation and thus mosaic. This is the first reported boy to have heterozygous mutation for Goltz syndrome who survived due to the extra X chromosome. PMID:23131169

  5. [Nasal respiratory stenosis and maxillary hypoplasia. Changes after orthodontic treatment with rapid palatal expansion].

    Science.gov (United States)

    Piccini, A; Giorgetti, R; Fiorelli, G

    1989-01-01

    The relationship between hypoplasia of the upper maxillary bone and nasal respiratory insufficiency in a group of twenty infants with malocclusion being treated by rapid maxillary expansion (RME) were studied. Prior to treatment all patients presented endognatia with discrepancies of from -4 to -7 mm in the transverse basal skeleton. These were often associated with adenoid hypertrophy (70% of the cases), increased total nasal resistance (70%), oral respiration (80%) and middle ear diseases (30%). RME led to resolution of occlusion alterations in all cases and often also brought about a regression in adenoid hypertrophy (57% of the cases), normalization of the total nasal resistance (70%) and respiration (80%). These effects were achieved alone without association with any other form of medical or surgical E.N.T. treatment. The functional results confirmed by the radiological and clinical findings indicate an increase in the diameters of the nasal fossa and in the distance between the canines, between premolars and between molars as well as reduction in adenoid vegetation and in the diffuse hypertrophic tissues lining the naso-pharyngeal space. Nonetheless, hypoplasia of the upper maxillary bone and nasal respiratory insufficiency remain strictly linked and are bound to a variable, and at times uncertain, cause-effect relationship. Is nasal stenosis the moving force of maxillary-mandibular dysmorphism and gnatological dysfunction or does it result from an overall genetic conditioning of facial skeleton development? During their vast experience in adenoid and metadenoid pathologies in infancy the authors have, at times, observed significant maxillo-facial dysmorphisms. They have likewise found that "facies adenoidea" were not always associated with hypertrophy of the pharyngeal tonsil.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    Energy Technology Data Exchange (ETDEWEB)

    Bruckheimer, Elchanan, E-mail: elchananb@bezeqint.net; Dagan, Tamir [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Atar, Eli; Schwartz, Michael [Schneider Children' s Medical Center Israel, Section of Radiology (Israel); Kachko, Ludmila [Schneider Children' s Medical Center Israel, Section of Anesthesiology (Israel); Superina, Riccardo; Amir, Gabriel [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Shapiro, Rivka [Schneider Children' s Medical Center Israel, Section of Gastroenterology (Israel); Birk, Einat [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel)

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  7. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    International Nuclear Information System (INIS)

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by ∼50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5–13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2–8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 ± 11.3 to 10.8 ± 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 ± 0.5 to 4.0 ± 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 ± 53.6 to 65.7 ± 9.6 μmol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia

  8. Pulmonary Hypertension

    OpenAIRE

    Newman, John H.

    2005-01-01

    The modern era in cardiopulmonary medicine began in the 1940s, when Cournand and Richards pioneered right-heart catheterization. Until that time, no direct measurement of central vascular pressure had been performed in humans. Right-heart catheterization ignited an explosion of insights into function and dysfunction of the pulmonary circulation, cardiac performance, ventilation–perfusion relationships, lung–heart interactions, valvular function, and congenital heart disease. It marked the beg...

  9. What Causes Pulmonary Hypertension?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Causes Pulmonary Hypertension? Pulmonary hypertension (PH) begins with inflammation and changes in the ... different types of PH. Group 1 pulmonary arterial hypertension (PAH) may have no known cause, or the ...

  10. Pulmonary Arterial Hypertension

    Science.gov (United States)

    Pulmonary Arterial Hypertension What Is Pulmonary Hypertension? To understand pulmonary hypertension (PH) it helps to understand how blood ows throughout your body. While the heart is one organ, it ...

  11. Pulmonary Fibrosis Foundation

    Science.gov (United States)

    ... the most current news and updates from the Pulmonary Fibrosis Foundation. Life with PF Education & Support About PF ... open ! JOIN NOW We Imagine a World Without Pulmonary Fibrosis The Pulmonary Fibrosis Foundation mobilizes people and resources ...

  12. Idiopathic Pulmonary Fibrosis

    Science.gov (United States)

    ... Explore Idiopathic Pulmonary Fibrosis What Is... How the Lungs Work Other Names Causes Signs & Symptoms Diagnosis Treatments Living With Clinical Trials Links Related Topics How the Lungs Work Lung Transplant Pulmonary Hypertension Pulmonary Rehabilitation Respiratory Failure ...

  13. How Is Pulmonary Hypertension Treated?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Pulmonary Hypertension Treated? Pulmonary hypertension (PH) has no cure. However, ... Types of Pulmonary Hypertension." ) Group 1 Pulmonary Arterial Hypertension Group 1 pulmonary arterial hypertension (PAH) includes PH ...

  14. Pulmonary Hypertension in Pulmonary Langerhans Cell Granulomatosis

    OpenAIRE

    Matthias Held; Philipp Schnabel; Arne Warth; Berthold Jany

    2012-01-01

    Introduction. Pulmonary Langerhans cell granulomatosis is a rare disease with a variable course. In pulmonary Langerhans cell granulomatosis pulmonary hypertension is frequent and has an independent prognostic impact. A vasculopathy which ist not related to ventilatory disturbance and fibrosis has been identified. An arteriopathy and even a venulopathy have been described. Due to this possible venulopathy vasodilators carry a significant risk for pulmonary congestion and edema. No drugs have ...

  15. [Pulmonary hyalinizing granuloma mimicking pulmonary carcinoma].

    Science.gov (United States)

    Uçvet, Ahmet; Tözüm, Halil; Gürsoy, Soner; Gülle, Ali Alper; Yaldiz, Sadik; Aydoğdu Dinç, Zekiye

    2006-01-01

    Pulmonary hyalinizing granuloma is a rare fibrosing nodular disease of the lung characterized by solitary or multiple pulmonary nodules. They can occur after inflammatory or post-inflammatory changes. A 60 years old asymptomatic patient admitted to our clinic because of a solid mass of 6 cm in his routine chest radiography. A lobectomy was performed and the histological diagnosis was reported as pulmonary hyalinizing granuloma. This case, mimicking pulmonary carcinoma, is rarely found in the literature. PMID:16615022

  16. [Pulmonary embolism].

    Science.gov (United States)

    Söffker, Gerold; Kluge, Stefan

    2015-01-01

    Acute pulmonary embolism is an important differential diagnosis of acute chest pain. The clinical signs are often non-specific. However, diagnosis and therapy must be done quickly in order to reduce morbidity and mortality. The new (2014) European guidelines for acute pulmonary embolism (PE) focus on risk-adapted diagnostic algorithms and prognosis adapted therapy concepts. According to the hemodynamic presentation the division in a high-risk group (unstable patient with persistent hypotension or shock) or in non-high-risk groups (hemodynamically stable) was proposed. In the high-risk group the immediate diagnosis is usually done by multidetector spiral computed tomography (MDCT) and primarily the medical therapy of right ventricular dysfunction and thrombolysis is recommended.In the non-high-risk group, this is subdivided into an intermediate-risk group and low-risk group, the diagnosis algorithm based on the PE-pretest probability--determined by validated scores. Moreover, the diagnosis is usually secured by MDCT--the new gold standard in the PE-diagnosis, scores, or it can be primarily ruled out due to the high negative predictive value of D-dimer determination. To improve the prognostic risk stratification in non-high-risk group patients the additional detection of right ventricular dysfunction (MDCT, echocardiography), cardiac biomarkers (troponin, NT proBNP) and validated scores (e.g. Pulmonary Embolism Severity Index) is recommended. Therefore, the intermediate-risk group can be further subdivided. For treatment of non-high-risk group patients, the initial anticoagulation (except those with severe renal insufficiency) using low molecular weight heparin/fondaparinux and conversion to vitamin-K antagonists or alternatively with direct oral anticoagulants (DOAK) is recommended. Hemodynamically stable patients with right ventricular dysfunction and myocardial ischemia (Intermediate-high-risk group patients) but with clinically progressive hemodynamic

  17. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation

    Directory of Open Access Journals (Sweden)

    Rashid Saleem

    2013-01-01

    Full Text Available MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

  18. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

    Science.gov (United States)

    Peters, Tess; Perrier, Renee; Haber, Richard M

    2014-01-01

    Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome. PMID:24387693

  19. Optic nerve head analysis of superior segmental optic hypoplasia using Heidelberg retina tomography

    Directory of Open Access Journals (Sweden)

    Atsushi Miki

    2010-10-01

    Full Text Available Atsushi Miki1,2, Motohiro Shirakashi1, Kiyoshi Yaoeda1, Atsushi Fukushima1, Mineo Takagi1, Haruki Abe11Division of Ophthalmology and Visual Sciences, Niigata University Graduate School of Medical and Dental Sciences, Niigata, 2Department of Ophthalmology, Kawasaki Medical School, Okayama, JapanPurpose: To evaluate the optic disc characteristics of eyes with superior segmental optic hypoplasia (SSOH using the Heidelberg retina tomograph (HRT.Patients and methods: Thirteen eyes of 13 Japanese patients with SSOH were studied with the HRT (software version: 3.0. The group included six males and seven females, with a mean age of 34.7 years. Six optic disc parameters in the six sectors derived from the patients with SSOH were compared with those of 13 eyes of 13 normal controls. In addition, the diagnostic classification performance of the Frederick S Mikelberg (FSM discriminant function, glaucoma probability score (GPS, and Moorfields regression analysis (MRA were assessed.Results: When compared with normal subjects, many of the optic disc parameters were significantly altered in SSOH in the superior sectors. The area under the curve (AUC for the receiver operating characteristic was 0.932 for the rim area, 0.926 for the cup-to-disc area ratio, and 0.882 for the cup shape measure. Among the HRT parameters, the largest AUC (0.988 was found for the cup shape measure in the nasal superior segment. The proportion classified as outside normal limits by the FSM discriminant function was 92.3% (12 eyes. For GPS, six eyes (46.2% were classified as outside normal limits. For MRA, when borderline cases were considered test-negative or test-positive, 10 eyes (76.9% or 11 eyes (84.6% were classified as outside normal limits, respectively. The AUCs were 0.976 for the FSM discriminant function, 0.914 for the MRA overall classification, and 0.710 for the GPS overall classification.Conclusions: In eyes with SSOH, there is a significant thinning of the rim

  20. Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction

    Science.gov (United States)

    Fei, Xiang; Yang, Hai-Rui; Yu, Peng-Fei; Sheng, Hai-Bo; Gu, Guo-Li

    2016-01-01

    Abdominal cocoon syndrome (ACS) is a rare cause of intestinal obstruction due to total or partial encapsulation of the small intestine by a fibrocollagenous membrane. Idiopathic ACS with abdominal cryptorchidism and greater omentum hypoplasia is even rarer clinically. We successfully treated a 26-year-old male case of small bowel obstruction with acute peritonitis. He was finally diagnosed with idiopathic ACS with unilateral abdominal cryptorchidism and greater omentum hypoplasia during exploratory laparotomy. He then underwent enterolysis, cryptorchidectomy, and appendectomy. He recovered gradually from the operations and early postoperative inflammatory ileus. There has been no recurrence of intestinal obstruction since the operation, and he is still in follow-up. We analyzed his clinical data and retrospectively reviewed the literature, and our findings may be helpful for the clinical diagnosis and treatment on ACS. PMID:27239122

  1. Restoration of incisal half with edge-up technique using ceramic partial crown in turner′s hypoplasia: A case report

    OpenAIRE

    Shreya Hegde; Kundabala, M

    2014-01-01

    This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper centr...

  2. Clinical distinction between nasal optic disc hypoplasia (NOH and glaucoma with NOH-like temporal visual field defects

    Directory of Open Access Journals (Sweden)

    Hiroshi Ohguro

    2010-06-01

    Full Text Available Hiroshi Ohguro, Ikuyo Ohguro, Midori Tsuruta, Maki Katai, Sachie TanakaDepartment of Ophthalmology, Sapporo Medical University School of Medicine, JapanPurpose: To report on the clinically important differences between nasal optic hypoplasia (NOH and glaucoma with NOH-like temporal visual field defect (VFD.Method: Five NOH (four bilateral and one unilateral patients, three unilateral NOH patients with glaucoma, and two glaucoma patients with NOH-like temporal VFD were clinically characterized. Superior segmental optic nerve hypoplasia was also associated with glaucoma in one eye of a bilateral NOH case and the NOH eye of a unilateral NOH patient. Ocular manifestations including refractive errors, size, and appearances of the optic discs, retinal nerve fiber thickness (NFLT ascertained by optical coherence tomography (OCT, and VFD were examined.Results: Ophthalmic examinations revealing NOH showed high myopia at more than -5.0D, a small disc with nasal double-ring appearance, significantly decreased NFLT by OCT, and retinal nerve fiber layer defect in the corresponding nasal sector. Stationary temporal VFD varied from a slight depression of the peripheral isopters to wide sector defects. In contrast, two glaucoma patients with NOH-like temporal VFD showed several different clinical features, including mild myopia less than -5D, a normal size with glaucomatous disc cupping; a slight decrease in nasal NFLT and progression of temporal and other glaucomatous VFD.Conclusion: Careful evaluation of optic disc appearance and measurement of NFLT using OCT may help to distinguish between NOH and glaucoma with NOH-like temporal VFD.Keywords: nasal optic disc hypoplasia, glaucoma, temporal visual field defects, optical coherence tomography, superior segmental optic nerve hypoplasia

  3. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate

    Science.gov (United States)

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure. PMID:26629107

  4. Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia

    Directory of Open Access Journals (Sweden)

    Adrian Kee Keong Teo

    2016-03-01

    Full Text Available Patients with an HNF1BS148L/+ mutation (MODY5 typically exhibit pancreatic hypoplasia. However, the molecular mechanisms are unknown due to inaccessibility of patient material and because mouse models do not fully recapitulate MODY5. Here, we differentiated MODY5 human-induced pluripotent stem cells (hiPSCs into pancreatic progenitors, and show that the HNF1BS148L/+ mutation causes a compensatory increase in several pancreatic transcription factors, and surprisingly, a decrease in PAX6 pancreatic gene expression. The lack of suppression of PDX1, PTF1A, GATA4, and GATA6 indicates that MODY5-mediated pancreatic hypoplasia is mechanistically independent. Overexpression studies demonstrate that a compensatory increase in PDX1 gene expression is due to mutant HNF1BS148L/+ but not wild-type HNF1B or HNF1A. Furthermore, HNF1B does not appear to directly regulate PAX6 gene expression necessary for glucose tolerance. Our results demonstrate compensatory mechanisms in the pancreatic transcription factor network due to mutant HNF1BS148L/+ protein. Thus, patients typically develop MODY5 but not neonatal diabetes despite exhibiting pancreatic hypoplasia.

  5. Detection of increased frequency of thyroid hypoplasia in subjects irradiated in utero as the results of Chernobyl catastrophe

    Energy Technology Data Exchange (ETDEWEB)

    Drozd, V.; Danilova, L.; Lushchyk, M.; Leonova, T.; Platonova, T. [International Fund Arnica, Minsk (Belarus); Grigorovich, A.; Sivuda, V. [Brest Regional Endocrinological Dispensary, Brest (Belarus); Branovan, I. [Chernobyl Project, New-York (United States); Biko, I.; Reiners, C. [Clinic and Policlinic of Nuclear Medicine, University of Wurzburg, Wursburg (Germany)

    2012-07-01

    For the 24 years passed after the Chernobyl catastrophe a significant experience in estimation of medical consequences of thyroid irradiation among Belarus patients had been accumulated. The aim of our screening of ultrasonic examination was the detection of the thyroid hypoplasia prevalence in the regions affected with radionuclide fallout. Since 2004 to 2007 thyroid ultrasound with volume estimation was performed in 3311 Belarus subjects, living on the areas of Brest region with the different contamination rate density. Examined subjects were divided in 3 groups: 1) irradiated at the age of 1 to 3 years old at the moment of Chernobyl catastrophe, 2) irradiated in utero, and 3) born after the catastrophe. It was revealed that thyroid hypoplasia was detected in 3% of group 1 (out of 1876 persons), in 5, 8% of group 2 (out of 503 persons, P<0.05) and in 1, 7% of the third group (out of 932 persons). The separation of the irradiated in utero subjects (group 2) to subgroups in dependence of the gestation period, showed the highest prevalence of thyroid hypoplasia among the irradiated in the first trimester of gestation: 7, 7% (P<0.05), in the second trimester: 5, 3%, in the third trimester: 4, 7%

  6. [Pulmonary circulation in embolic pulmonary edema].

    Science.gov (United States)

    Sanotskaia, N V; Polikarpov, V V; Matsievskiĭ, D D

    1989-02-01

    The ultrasonic method was used in acute experiments on cats with open chest under artificial lung ventilation to obtain blood flow in low-lobar pulmonary artery and vein, the blood pressure in pulmonary artery, as well as the left atrial pressure in fat (olive oil) and mechanical (Lycopodium spores) pulmonary embolism. It is shown that pulmonary embolism produces the decrease in the blood flow in pulmonary artery and vein, the increase of the pressure in pulmonary artery and left atria, the increase of lung vessels resistance. The decrease is observed of systemic arterial pressure, bradycardia, and extrasystole. After 5-10 min the restoration of arterial pressure and heart rhythm occur and partial restoration of blood flow in pulmonary artery and vein. In many experiments the blood flow in vein outdoes that in the artery--it allows to suppose the increase of the blood flow in bronchial artery. After 60-90 min there occur sudden decrease of systemic arterial pressure, the decrease of the blood flow in pulmonary artery and vein. The pressure in pulmonary artery and resistance of pulmonary vessels remain high. Pulmonary edema developed in all animals. The death occurs in 60-100 min after the beginning of embolism. PMID:2923969

  7. The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

    Science.gov (United States)

    Mukherjee, Anika; Chan, Adrian D C; Keating, Sarah; Redline, Raymond W; Fritsch, Michael K; Machin, Geoffrey A; Cornejo-Palma, Daniel; de Nanassy, Joseph; El-Demellawy, Dina; von Dadelszen, Peter; Benton, Samantha J; Grynspan, David

    2016-01-01

    The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension. A study set of 30 images of placental parenchyma at ×4 magnification was created by a single pathologist from a digital slide archive. The images were graded for the DVH pattern according to pre-specified definitions and included 10 images graded as "no DVH" (grade  =  0), 10 with mild to moderate DVH (grade  =  1), and 10 with severe DVH (grade  =  2). The images were randomly sorted and shown to a panel of 4 international experts who similarly graded the images for DVH. Weighted kappas were calculated. For each image, fractal dimension was calculated by the Box Counting method. The correlation coefficient between (1) the averaged DVH scores obtained by the 5 pathologists and (2) fractal dimension was calculated. The mean weighted kappa score among the observers was 0.59 (range: 0.42-0.70). The correlation coefficient between fractal dimension and the averaged DVH score was -0.915 (P fractal dimension and represents an objective measure for DVH.

  8. Hypoplasia of the sphenoid sinuses as a diagnostic tool in cystic fibrosis

    International Nuclear Information System (INIS)

    Purpose: To measure and compare the size of the sphenoid sinuses in patients with cystic fibrosis (CF) to patients with inflammatory sinonasal disease, and to correlate the size with number of CF mutations in each patient. Material and Methods: Ninety-six CF patients aged 5-47 years (median 19 years) and 130 control patients aged 7-51 years (median 32 years) were examined using coronal CT of the paranasal sinuses. In each patient, the CT image with the largest coronal area of the sphenoid sinuses was scanned into a Macintosh computer with image processing and analysis software. Largest coronal area and largest circumference of the right and left sphenoid sinuses were automatically measured. Additionally, antero-posterior extension of the sphenoid sinuses was calculated from the lateral scanograms. CF patients were grouped according to number of confirmed mutations (CF-0, CF-1, or CF-2). Results: CF patients generally had small sphenoid sinuses. The largest difference for all parameters were observed between the CF-2 and the control groups (p<0.0001). No CF-2 patient had pneumatization beyond the presphenoid. The CF-0 and CF-1 groups consisted of two populations, one overlapping the CF-2 group and another overlapping the control group. Conclusion: Hypoplasia of the sphenoid sinuses is a characteristic finding in CF patients. When pneumatization of the basisphenoid is present, the existing CF diagnosis should be questioned. (orig.)

  9. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins.

    Science.gov (United States)

    Cunha, E; Rozzi, F Ramirez; Bermúdez de Castro, J M; Martinón-Torres, M; Wasterlain, S N; Sarmiento, S

    2004-11-01

    This study presents an analysis of linear enamel hypoplasias (LEH) and plane-form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7-30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning. PMID:15386251

  10. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  11. Iron as the Key Modulator of Hepcidin Expression in Erythroid Antibody-Mediated Hypoplasia

    Directory of Open Access Journals (Sweden)

    J. C. Fernandes

    2014-01-01

    Full Text Available Erythroid hypoplasia (EH is a rare complication associated with recombinant human erythropoietin (rHuEPO therapies, due to development of anti-rHuEPO antibodies; however, the underlying mechanisms remain poorly clarified. Our aim was to manage a rat model of antibody-mediated EH induced by rHuEPO and study the impact on iron metabolism and erythropoiesis. Wistar rats treated during 9 weeks with a high rHuEPO dose (200 IU developed EH, as shown by anemia, reduced erythroblasts, reticulocytopenia, and plasmatic anti-rHuEPO antibodies. Serum iron was increased and associated with mRNA overexpression of hepatic hepcidin and other iron regulatory mediators and downregulation of matriptase-2; overexpression of divalent metal transporter 1 and ferroportin was observed in duodenum and liver. Decreased EPO expression was observed in kidney and liver, while EPO receptor was overexpressed in liver. Endogenous EPO levels were normal, suggesting that anti-rHuEPO antibodies blunted EPO function. Our results suggest that anti-rHuEPO antibodies inhibit erythropoiesis causing anemia. This leads to a serum iron increase, which seems to stimulate hepcidin expression despite no evidence of inflammation, thus suggesting iron as the key modulator of hepcidin synthesis. These findings might contribute to improving new therapeutic strategies against rHuEPO resistance and/or development of antibody-mediated EH in patients under rHuEPO therapy.

  12. Apelin and pulmonary hypertension

    DEFF Research Database (Denmark)

    Andersen, Charlotte Uggerhøj; Hilberg, Ole; Mellemkjær, Søren;

    2011-01-01

    Pulmonary arterial hypertension (PAH) is a devastating disease characterized by pulmonary vasoconstriction, pulmonary arterial remodeling, abnormal angiogenesis and impaired right ventricular function. Despite progress in pharmacological therapy, there is still no cure for PAH. The peptide apelin...... vasoconstriction, and has positive inotropic and cardioprotective effects. Apelin attenuates vasoconstriction in isolated rat pulmonary arteries, and chronic treatment with apelin attenuates the development of pulmonary hypertension in animal models. The existing literature thus renders APLNR an interesting...

  13. Pulmonary veno-occlusive disease

    Science.gov (United States)

    Pulmonary vaso-occlusive disease ... common among children and young adults. As the disease gets worse, it causes narrowed pulmonary veins, pulmonary artery hypertension , and congestion and swelling ...

  14. Cortical hypoplasia and ventriculomegaly of p73-deficient mice: Developmental and adult analysis.

    Science.gov (United States)

    Medina-Bolívar, Carolina; González-Arnay, Emilio; Talos, Flaminia; González-Gómez, Miriam; Moll, Ute M; Meyer, Gundela

    2014-08-01

    Trp73, a member of the p53 gene family, plays a crucial role in neural development. We describe two main phenotypic variants of p73 deficiency in the brain, a severe one characterized by massive apoptosis in the cortex leading to early postnatal death and a milder, non-/low-apoptosis one in which 50% of pups may reach adulthood using an intensive-care breeding protocol. Both variants display the core triad of p73 deficiency: cortical hypoplasia, hippocampal malformations, and ventriculomegaly. We studied the development of the neocortex in p73 KO mice from early embryonic life into advanced age (25 months). Already at E14.5, the incipient cortical plate of the p73 KO brains showed a reduced width. Examination of adult neocortex revealed a generalized, nonprogressive reduction by 10-20%. Area-specific architectonic landmarks and lamination were preserved in all cortical areas. The surviving adult animals had moderate ventricular distension, whereas pups of the early lethal phenotypic variant showed severe ventriculomegaly. Ependymal cells of wild-type ventricles strongly express p73 and are particularly vulnerable to p73 deficiency. Ependymal denudation by apoptosis and reduction of ependymal cilia were already evident in young mice, with complete absence of cilia in older animals. Loss of p73 function in the ependyma may thus be one determining factor for chronic hydrocephalus, which leads to atrophy of subcortical structures (striatum, septum, amygdala). p73 Is thus involved in a variety of CNS activities ranging from embryonic regulation of brain size to the control of cerebrospinal fluid homeostasis in the adult brain via maintenance of the ependyma.

  15. Pulmonary function in advanced pulmonary hypertension.

    OpenAIRE

    Burke, C. M.; Glanville, A R; Morris, A J; Rubin, D.; Harvey, J. A.; Theodore, J; Robin, E. D.

    1987-01-01

    Pulmonary mechanical function and gas exchange were studied in 33 patients with advanced pulmonary vascular disease, resulting from primary pulmonary hypertension in 18 cases and from Eisenmenger physiology in 15 cases. Evidence of airway obstruction was found in most patients. In addition, mean total lung capacity (TLC) was only 81.5% of predicted and 27% of our subjects had values of TLC less than one standard deviation below the mean predicted value. The mean value for transfer factor (TLC...

  16. Pulmonary Hyalinising Granuloma: A rare pulmonary disorder

    International Nuclear Information System (INIS)

    Pulmonary hyalinising granulomas are rare, non-infectious fibros lesions of the lung which can mimic metastatic disease. It was first described in literature by Engleman et al in the year 1977. Its etiology is unknown but they may be caused by an exaggerated immune response. The patient typically presents with cough, chest pain, dyspnoea or haemoptysis in association with multiple bilateral parenchymal nodules. We report the case of a 20 years old male who presented with a 12-month history of worsening dry cough. His plain chest radiograph and subsequent CT scan revealed bilateral pulmonary nodules. A CT guided biopsy of the pulmonary lesions was consistent with Pulmonary Hyalinising Granuloma [PHG].

  17. Quantitative pulmonary perfusion imaging at 3.0 T of 2-year-old children after congenital diaphragmatic hernia repair: initial results

    Energy Technology Data Exchange (ETDEWEB)

    Zoellner, F.G.; Schad, L.R. [Heidelberg University, Computer Assisted Clinical Medicine, Medical Faculty Mannheim, Mannheim (Germany); Zahn, K. [Heidelberg University, Department of Pediatric Surgery, University Medical Center Mannheim, Mannheim (Germany); Schaible, T. [Heidelberg University, Department of Pediatrics, University Medical Center Mannheim, Mannheim (Germany); Schoenberg, S.O.; Neff, K.W. [Heidelberg University, Institute of Clinical Radiology and Nuclear Medicine, University Medical Center Mannheim, Mannheim (Germany)

    2012-12-15

    To investigate whether dynamic contrast-enhanced MR imaging of the lung following congenital diaphragmatic hernia repair is feasible at 3.0 T in 2-year-old children and whether associated lung hypoplasia (reflected in reduced pulmonary microcirculation) can be demonstrated in MRI. Twelve children with a mean age 2.0 {+-} 0.2 years after hernia repair underwent DCE-MRI at 3.0 T using a time-resolved angiography with stochastic trajectories sequence. Quantification of lung perfusion was performed using a pixel-by-pixel deconvolution approach. Six regions of interest were placed (upper, middle and lower parts of right and left lung) to assess differences in pulmonary blood flow (PBF), pulmonary blood volume (PBV) and mean transit time (MTT) while avoiding the inclusion of larger pulmonary arteries and veins. The difference in PBF and PBV between ipsilateral and contralateral lung was significant (P < 0.5). No significant differences could be detected for the MTT (P = 0.5). DCE-MRI in 2-year-old patients is feasible at 3.0 T. Reduced perfusion in the ipsilateral lung is reflected by significantly lower PBF values compared with the contralateral lung. DCE-MRI of the lung in congenital diaphragmatic hernia can help to characterise lung hypoplasia initially and in the long-term follow-up of children after diaphragmatic repair. (orig.)

  18. Miliary pulmonary cryptococcosis

    Directory of Open Access Journals (Sweden)

    Shane Kelly

    2014-10-01

    Imaging features of pulmonary cryptococcosis are generally of well-defined pleural-based nodules and less commonly alveolar infiltrates, lymphadenopathy, pleural effusions or cavitating lesions. Miliary pulmonary infiltrates are an exceptionally rare presentation.

  19. Pulmonary alveolar proteinosis

    Science.gov (United States)

    Alveolar proteinosis; Pulmonary alveolar phospholipoproteinosis ... In some cases, the cause of pulmonary alveolar proteinosis is unknown. In others, it occurs with lung infection or an immune problem. It also can occur with cancers of the blood system, ...

  20. Extensive pulmonary alveolar microlithiasis

    OpenAIRE

    Rittayamai, Nuttapol; Muangman, Nisa; Ruangchira-Urai, Ruchira

    2013-01-01

    Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. We report the extensive pulmonary alveolar microlithiasis in an elderly woman who presented with progressive dyspnea for 2 months. Chest radiograph revealed diffuse pulmonary calcification. Tissue histopathology from open lung biopsy demonstrated widespread intra-alveolar lam...

  1. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-07-01

    Full Text Available We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

  2. Symptoms, Diagnosis and Treatment for Pulmonary Fibrosis

    Science.gov (United States)

    ... www.lung.org > Lung Health and Diseases > Lung Disease Lookup > Pulmonary Fibrosis Pulmonary Fibrosis Symptoms, Causes & Risk Factors Pulmonary ... while processing XML file."); } }); } } --> Blank Section Header Lung Disease Lookup Pulmonary Fibrosis Learn About Pulmonary Fibrosis Pulmonary Fibrosis Symptoms, ...

  3. Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development

    Directory of Open Access Journals (Sweden)

    Vitalis Tania

    2009-03-01

    population that is thought responsible for the cerebellar hypoplasia in Down syndrome, a global destabilization of gene expression was not detected. Altogether these results strongly suggest that the three-copy genes are directly responsible for the phenotype present in cerebellum. We provide here a short list of candidate genes.

  4. Pulmonary vascular diseases.

    Science.gov (United States)

    Mélot, C; Naeije, R

    2011-04-01

    Diseases of the pulmonary vasculature are a cause of increased pulmonary vascular resistance (PVR) in pulmonary embolism, chronic thromboembolic pulmonary hypertension (CTEPH), and pulmonary arterial hypertension or decreased PVR in pulmonary arteriovenous malformations on hereditary hemorrhagic telangiectasia, portal hypertension, or cavopulmonary anastomosis. All these conditions are associated with a decrease in both arterial PO2 and PCO2. Gas exchange in pulmonary vascular diseases with increased PVR is characterized by a shift of ventilation and perfusion to high ventilation-perfusion ratios, a mild to moderate increase in perfusion to low ventilation-perfusion ratios, and an increased physiologic dead space. Hypoxemia in these patients is essentially explained by altered ventilation-perfusion matching amplified by a decreased mixed venous PO2 caused by a low cardiac output. Hypocapnia is accounted for by hyperventilation, which is essentially related to an increased chemosensitivity. A cardiac shunt on a patent foramen ovale may be a cause of severe hypoxemia in a proportion of patients with pulmonary hypertension and an increase in right atrial pressure. Gas exchange in pulmonary arteriovenous malformations is characterized by variable degree of pulmonary shunting and/or diffusion-perfusion imbalance. Hypocapnia is caused by an increased ventilation in relation to an increased pulmonary blood flow with direct peripheral chemoreceptor stimulation by shunted mixed venous blood flow. PMID:23737196

  5. Multidetector computed tomography pulmonary angiography in childhood acute pulmonary embolism

    Energy Technology Data Exchange (ETDEWEB)

    Tang, Chun Xiang; Zhang, Long Jiang; Lu, Guang Ming [Medical School of Nanjing University, Department of Medical Imaging, Jinling Hospital, Nanjing, Jiangsu (China); Schoepf, U.J. [Medical School of Nanjing University, Department of Medical Imaging, Jinling Hospital, Nanjing, Jiangsu (China); Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States); Medical University of South Carolina, Department of Pediatrics, Charleston, SC (United States); Chowdhury, Shahryar M. [Medical University of South Carolina, Department of Pediatrics, Charleston, SC (United States); Fox, Mary A. [Medical University of South Carolina, Department of Radiology and Radiological Science, Charleston, SC (United States)

    2015-09-15

    Pulmonary embolism is a life-threatening condition affecting people of all ages. Multidetector row CT pulmonary angiography has improved the imaging of pulmonary embolism in both adults and children and is now regarded as the routine modality for detection of pulmonary embolism. Advanced CT pulmonary angiography techniques developed in recent years, such as dual-energy CT, have been applied as a one-stop modality for pulmonary embolism diagnosis in children, as they can simultaneously provide anatomical and functional information. We discuss CT pulmonary angiography techniques, common and uncommon findings of pulmonary embolism in both conventional and dual-energy CT pulmonary angiography, and radiation dose considerations. (orig.)

  6. Pulmonary arterial hypertension : an update

    NARCIS (Netherlands)

    Hoendermis, E. S.

    2011-01-01

    Pulmonary arterial hypertension (PAH), defined as group 1 of the World Heart Organisation (WHO) classification of pulmonary hypertension, is an uncommon disorder of the pulmonary vascular system. It is characterised by an increased pulmonary artery pressure, increased pulmonary vascular resistance a

  7. Mechanisms responsible for pulmonary hypertension

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Pulmonary hypertension is a pathophysiologic process characterized by progressive elevation of pulmonary vascular resistance and right heart failure, which is a common complication of many diseases. Pulmonary hypertension with no apparent causes (unknown etiology) is termed primary pulmonary hypertension or, more recently, idiopathic pulmonary arterial hypertension (IPAH).

  8. Pulmonary Extramedullary Hematopoiesis Involving the Pulmonary Artery

    OpenAIRE

    Varun Monga; Margarida Silverman

    2015-01-01

    Extramedullary hematopoiesis (EMH) occurs as a complication of hematologic disorders such as myelofibrosis, sickle cell anemia and thalassemia. The extramedullary tissue usually involves liver, spleen and lymph nodes, less frequently the chest. We present a recent case of a man with myeloproliferative neoplasm who developed pulmonary hemorrhage secondary to EMH in the lung and pulmonary artery. Radiation therapy was considered the best approach, but it didn’t work and the patient died a week ...

  9. Effect of pulmonary hypertension on outcome of pulmonary tuberculosis

    OpenAIRE

    Majid Marjani; Parvaneh Baghaei; Majid Malekmohammad; Payam Tabarsi; Babak Sharif-Kashani; , Neda Behzadnia; Davood Mansouri; Mohammad Reza Masjedi; Ali Akbar Velayati

    2014-01-01

    Background: This study performed at the National Research Institute of Tuberculosis and Lung Disease, Tehran, Iran, aimed to evaluate the effect of concomitant pulmonary hypertension on the outcome of pulmonary tuberculosis. Methods: New cases of pulmonary tuberculosis were recruited for the study. Pulmonary hypertension was defined as systolic pulmonary arterial pressure ≥35 mm Hg estimated by transthoracic Doppler echocardiography. We assessed the relationship between pulmonary hypertensi...

  10. Antenatal use of bosentan and/or sildenafil attenuates pulmonary features in rats with congenital diaphragmatic hernia

    Institute of Scientific and Technical Information of China (English)

    María de Lourdes Lemus-Varela; Amed Soliz; Belinda Claudia Gómez-Meda; Ana Lourdes Zamora-Perez; José Manuel Ornelas-Aguirre; Valery Melnikov; Blanca Miriam Torres-Mendoza

    2014-01-01

    Background: Lung hypoplasia, pulmonary persistent hypertension of the newborn and its morphological changes are the main features in congenital diaphragmatic hernia (CDH). This study was undertaken to investigate if antenatal use of sildenafi l and/or bosentan attenuates vascular remodeling, promotes branching, and improves alveolarization in experimental nitrofeninduced CDH. Methods: Nitrofen (100 mg) was gavage-fed to pregnant rats at post conception day (PCD) 9 to induce CDH. The rats were randomized to 5 groups: 1) control; 2) nitrofen; 3) nitrofen+sildenafil 100 mg/kg per day at PCD 16-20; 4) nitrofen+bosentan 30 mg/kg per day, at PCD 16-20, and 5) nitrofen+bosentan+sildenafil, same doses and administration days. After cesarean delivery, the offsprings were sacrifi ced. The diaphragmatic defect and pulmonary hypoplasia were identifi ed, and the lungs were dissected. Arterial wall thickness, bronchiolar density and alveolarization were assessed. Results: The offsprings with CDH were characterized by severe pulmonary hypoplasia (lung weight-to-body weight ratio: 0.0263 [95% confidence interval (CI) 0.0242-0.0278)] in the nitrofen group versus 0.0385 (95% CI 0.0355-0.0424) in the control group (P=0.0001). Pulmonary arterial wall thickness was decreased to 3.0 (95% CI 2.8-3.7) μm in the nitrofen+sildenafil group versus 5.0 (95% CI 4.1-4.9) μm in the nitrofen group (P=0.02). Terminal bronchioles increased to 13.7 (95% CI 10.7-15.2) μm in the nitrofen+bosentan group in contrast to 8.7 (95% CI 7.2-9.4) μm in the nitrofen group (P=0.002). More significant differences (P=0.0001) were seen in terminal bronchioles in the nitrofen+sildenafil+bosentan group than in the nitrofen group [14.0 (95% CI 12.5-15.4) μm versus 8.5 (95% CI 7.1-9.3) μm]. Pulmonary arterial wall thickness was also decreased in the former group. Conclusions: In this rat model, antenatal treatment with sildenafi l attenuates vascular remodeling. Bosentan promotes the development of terminal

  11. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    1995-01-01

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and mate

  12. Handbook of pulmonary emergencies

    Energy Technology Data Exchange (ETDEWEB)

    Spaquolo, S.V.; Medinger, A

    1986-01-01

    This book presents information on the following topics: clinical assessment of the patient with pulmonary disease; interpretation of arterial blood gases in the emergency patient; life-threatening pneumonia; extrapulmonic ventilatory failure; acute inhalation lung disease; pulmonary edema; near drowning; chest trauma; upper airway emergencies; chronic lung disease with acute respiratory decompensation; acute respiratory failure in the patient with chronic airflow obstruction; asthma; hemoptysis; embolic pulmonary disease; superior vena cava syndrome; catastrophic pleural disease; ventilatory assistance and its complications; and ventilator emergencies.

  13. Cystic pulmonary hydatidosis

    Science.gov (United States)

    Sarkar, Malay; Pathania, Rajnish; Jhobta, Anupam; Thakur, Babu Ram; Chopra, Rajesh

    2016-01-01

    Cystic echinococcosis (CE) is a zoonotic parasitic disease caused by the larval stages of the cestode Echinococcus granulosus. Worldwide, pulmonary hydatid cyst is a significant problem medically, socially, and economically. Surgery is the definitive therapy of pulmonary hydatidosis. Benzimidazoles may be considered in patients with a surgical contraindication. This review will focus on pathogenesis, lifecycle, clinical features, and management of pulmonary hydatid disease. PMID:27051107

  14. How Is Pulmonary Hypertension Diagnosed?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Pulmonary Hypertension Diagnosed? Your doctor will diagnose pulmonary hypertension (PH) ... To Look for the Underlying Cause of Pulmonary Hypertension PH has many causes, so many tests may ...

  15. Liver Disease and Pulmonary Hypertension

    Science.gov (United States)

    Liver Disease Pulmonary & PH Hypertension Did you know that if you have liver disease, you are at risk for pulmonary ... to the liver without cirrhosis. How does liver disease relate to pulmonary hypertension? Liver disease can cause what is known ...

  16. Miliary pulmonary cryptococcosis

    Science.gov (United States)

    Kelly, Shane; Marriott, Deborah

    2014-01-01

    A 32-year-old HIV positive male presents with fevers and a non-productive cough. Initial X-ray and subsequent computerised tomography of the chest shows a bilateral miliary pattern of pulmonary infiltration highly suggestive of disseminated tuberculosis. However subsequent results were consistent with disseminated cryptococcosis, including pulmonary involvement, with cryptococcus identified on transbronchial tissue biopsy, and on blood and cerebrospinal fluid cultures. Imaging features of pulmonary cryptococcosis are generally of well-defined pleural-based nodules and less commonly alveolar infiltrates, lymphadenopathy, pleural effusions or cavitating lesions. Miliary pulmonary infiltrates are an exceptionally rare presentation. PMID:25379393

  17. Regulation of pulmonary inflammation by mesenchymal cells

    NARCIS (Netherlands)

    Alkhouri, Hatem; Poppinga, Wilfred Jelco; Tania, Navessa Padma; Ammit, Alaina; Schuliga, Michael

    2014-01-01

    Pulmonary inflammation and tissue remodelling are common elements of chronic respiratory diseases such as asthma, chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF), and pulmonary hypertension (PH). In disease, pulmonary mesenchymal cells not only contribute to tissue

  18. Esthetic and endosurgical management of turner′s hypoplasia; a sequlae of trauma to developing tooth germ

    Directory of Open Access Journals (Sweden)

    Bhushan B

    2008-12-01

    Full Text Available Turner′s hypoplasia usually manifests as a portion of missing or diminished enamel, generally affecting one or more permanent teeth in the oral cavity. A case report of 8 year old girl who met with trauma at 2 years of age leading to primary incisors being knocked out, reported after 6 years with complaint of pain and discharge in her anterior malformed teeth is discussed in this article. The permanent incisors erupted with dilacerated crown, root malformations and missing enamel. Further, patient developed sinus, lateral root pathology, tooth mobility and malocclusion in relation to affected teeth which were managed by esthetic, functional, endodontic and surgical procedure. Root canal treatment along with palatal contouring and esthetic restoration by light cure composite was performed on the tooth with crown dilaceration and sinus, where as surgical management was considered for the tooth with root malformation.

  19. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

    Science.gov (United States)

    Boczonadi, Veronika; Müller, Juliane S.; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; Ferrero, Ileana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez-Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J.; Chinnery, Patrick F.; Edvardson, Shimon; Horvath, Rita

    2014-01-01

    The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. These findings show the central role of the exosomal pathway in neurodegenerative disease. PMID:24989451

  20. Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.

    Directory of Open Access Journals (Sweden)

    Emma A Webb

    Full Text Available OBJECTIVES: To assess the prevalence of behavioral problems in children with isolated optic nerve hypoplasia, mild to moderate or no visual impairment, and no developmental delay. To identify white matter abnormalities that may provide neural correlates for any behavioral abnormalities identified. PATIENTS AND METHODS: Eleven children with isolated optic nerve hypoplasia (mean age 5.9 years underwent behavioral assessment and brain diffusion tensor imaging, Twenty four controls with isolated short stature (mean age 6.4 years underwent MRI, 11 of whom also completed behavioral assessments. Fractional anisotropy images were processed using tract-based spatial statistics. Partial correlation between ventral cingulum, corpus callosum and optic radiation fractional anisotropy, and child behavioral checklist scores (controlled for age at scan and sex was performed. RESULTS: Children with optic nerve hypoplasia had significantly higher scores on the child behavioral checklist (p<0.05 than controls (4 had scores in the clinically significant range. Ventral cingulum, corpus callosum and optic radiation fractional anisotropy were significantly reduced in children with optic nerve hypoplasia. Right ventral cingulum fractional anisotropy correlated with total and externalising child behavioral checklist scores (r = -0.52, p<0.02, r = -0.46, p<0.049 respectively. There were no significant correlations between left ventral cingulum, corpus callosum or optic radiation fractional anisotropy and behavioral scores. CONCLUSIONS: Our findings suggest that children with optic nerve hypoplasia and mild to moderate or no visual impairment require behavioral assessment to determine the presence of clinically significant behavioral problems. Reduced structural integrity of the ventral cingulum correlated with behavioral scores, suggesting that these white matter abnormalities may be clinically significant. The presence of reduced fractional anisotropy in the optic

  1. Pulmonary alveolar microlithiasis

    OpenAIRE

    Gayathri Devi, H.J.; K N Mohan Rao; Prathima, K. M.; Das, Jayanth K.

    2011-01-01

    Pulmonary alveolar microlithiasis is a rare disease of unknown cause. We report a case in a young boy who presented with history of failure to thrive and chest X-ray finding suggestive of miliary mottling. Open lung biopsy revealed pulmonary alveolar microlithiasis.

  2. Pregnancy and pulmonary hypertension

    NARCIS (Netherlands)

    Pieper, Petronella G.; Lameijer, Heleen; Hoendermis, Elke S.

    2014-01-01

    Pulmonary hypertension during pregnancy is associated with considerable risks of maternal mortality and morbidity. Our systematic review of the literature on the use of targeted treatments for pulmonary arterial hypertension during pregnancy indicates a considerable decrease of mortality since a pre

  3. Pulmonary hypertension CT imaging

    International Nuclear Information System (INIS)

    Full text: The right heart catheterization is the gold standard in the diagnosis and determines the severity of pulmonary hypertension. The significant technical progress of noninvasive diagnostic imaging methods significantly improves the pixel density and spatial resolution in the study of cardiovascular structures, thus changes their role and place in the overall diagnostic plan. Learning points: What is the etiology, clinical manifestation and general pathophysiological disorders in pulmonary hypertension. What are the established diagnostic methods in the diagnosis and follow-up of patients with pulmonary hypertension. What is the recommended protocol for CT scanning for patients with clinically suspected or documented pulmonary hypertension. What are the important diagnostic findings in CT scan of a patient with pulmonary hypertension. Discussion: The prospect of instantaneous complex - anatomical and functional cardiopulmonary and vascular diagnostics seems extremely attractive. The contrast enhanced multislice computed (CT ) and magnetic resonance imaging are very suitable methods for imaging the structures of the right heart, with the possibility of obtaining multiple projections and three-dimensional imaging reconstructions . There are specific morphological features that, if carefully analyzed, provide diagnostic information. Thus, it is possible to avoid or at least reduce the frequency of use of invasive diagnostic cardiac catheterization in patients with pulmonary hypertension. Conclusion: This review focuses on the use of contrast-enhanced CT for comprehensive evaluation of patients with pulmonary hypertension and presents the observed characteristic changes in the chest, lung parenchyma , the structures of the right half of the heart and pulmonary vessels

  4. Bilateral meandering pulmonary veins

    Energy Technology Data Exchange (ETDEWEB)

    Thupili, Chakradhar R.; Udayasankar, Unni [Pediatric Imaging, Imaging Institute Cleveland Clinic, Cleveland, OH (United States); Renapurkar, Rahul [Imaging Institute Cleveland Clinic, Thoracic Imaging, L10, Cleveland, OH (United States)

    2015-06-15

    Meandering pulmonary veins is a rare clinical entity that can be mistaken for more complex congenital syndromes such as hypogenetic lung syndrome. We report imaging findings in a rare incidentally detected case of bilateral meandering pulmonary veins. We briefly discuss the role of imaging in diagnosing this condition, with particular emphasis on contrast-enhanced CT. (orig.)

  5. Case Series: Fetal Pulmonary Vein A-Wave Reversal: An Early Marker of Left-Sided Cardiac Anomalies?

    Directory of Open Access Journals (Sweden)

    Aldo L. Schenone

    2015-04-01

    Full Text Available Background - Improvements in congenital heart disease (CHD screening are needed based on the lack of sensitivity of current screening methods and the understanding that the early detection of certain CHDs may improve outcomes. Fetal venous circulation has caught medical attention, and two studies demonstrated that it is feasible to register pulmonary vein flow velocity waveforms (FVWs during early gestation. Meanwhile, the latter study proposed pulmonary vein A-wave reversal as a marker of cardiac anomaly. Methods - We report a series of six consecutive fetuses with confirmed cardiac anomalies that underwent first-trimester screening, including pulmonary vein FVWs, at our center during 2013. CHD was confirmed by late pregnancy echocardiography, and in three cases fetal autopsies were performed. Result/Discussion - The ductus venosus (DV and nuchal translucency (NT predicted 50% of CHD cases, whereas the combination of markers identified 66.6% of CHD cases. When adding pulmonary vein assessment, the rate of detection rose to 83.3%. Total five of six cases of CHD had reversal of pulmonary vein A-wave during early pregnancy. The sixth case with CHD and nonreversal of A-wave was described as right ventricle hypoplasia with type 1 tricuspid atresia and persistent ductus arteriosus. Conclusion This is the first series reporting pulmonary vein end-diastolic reversal as a CHD screening add-on during early pregnancy. The addition of pulmonary vein FVW assessment to the current CHD screening bundle could increase the rate detection of cardiac anomalies. This pilot study suggests that pulmonary vein end-diastolic flow reversal favors detection of left-sided CHD over the right-sided ones.

  6. Extralobar pulmonary sequestration

    Directory of Open Access Journals (Sweden)

    Ulys A

    2011-04-01

    Full Text Available Albertas Ulys, Narimantas Evaldas Samalavicius, Saulius Cicenas, Tadas Petraitis, Mantas Trakymas, Dmitrij Sheinin, Leonid GatijatullinInstitute of Oncology, Vilnius University, Santariskiu, Vilnius, LithuaniaAbstract: Prevalence of pulmonary sequestration accounts for up to 6.4% of all congenital pulmonary malformations. We report on a 40-year-old woman who underwent excision of an aberrant solid retroperitoneal mass in the left subdiaphragmatic area. The mass was identified to be an extralobar pulmonary sequestration. The diagnosis could be made without surgery by percutaneous tissue biopsy and imaging. We encourage keeping in mind pulmonary sequestration anomaly presenting as an aberrant retroperitoneal mass. The aim of this case report is to increase awareness about the condition and review the criteria for its definitive diagnosis and treatment.Keywords: retroperitoneal aberrant mass, extralobar pulmonary sequestration

  7. Pulmonary mycoses among the clinically suspected cases of pulmonary tuberculosis

    OpenAIRE

    Tshering Ongmu Bhutia; Luna Adhikari

    2015-01-01

    Background: This study was carried with the main objectives: (1) to find out the occurrence of pulmonary mycoses in clinically suspected pulmonary tuberculosis cases at central referral hospital, Tadong, Sikkim. (2) To find out the various fungi causing pulmonary mycoses in clinically suspected pulmonary tuberculosis cases. Methods: 200 clinically suspected pulmonary tuberculosis cases who visited the department of microbiology for the diagnostic microscopic examination of sputum sample f...

  8. Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension

    Science.gov (United States)

    Sharma, Arun; Gulati, Gurpreet S; Parakh, Neeraj; Aggarwal, Abhinav

    2016-01-01

    Chronic thromboembolic pulmonary hypertension is a morbid condition associated with complications such as hemoptysis, right heart failure, paradoxical embolism, and even death. There is no known association of chronic thromboembolic pulmonary hypertension with pulmonary arteriovenous malformation. Possible hypothesis for this association is an increased pulmonary vascular resistance leading to the compensatory formation of pulmonary arteriovenous malformation. We present one such case presenting with hemoptysis that was managed with endovascular treatment.

  9. Pulmonary endocrine cells in plexogenic pulmonary arteriopathy associated with cirrhosis.

    OpenAIRE

    Gosney, J R; Resl, M.

    1995-01-01

    A clear association has been described between numbers of pulmonary endocrine cells and the migration and/or proliferation of myofibroblasts which is thought to underlie the vascular changes seen in plexogenic pulmonary arteriopathy due to cardiac shunts and primary pulmonary hypertension. In contrast, the pulmonary endocrine system in a subject with florid pulmonary plexogenic arteriopathy associated with cirrhosis was entirely normal, suggesting possible differences in its pathogenesis.

  10. Pulmonary manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Sameer Gulati

    2012-01-01

    Full Text Available Leptospirosis has a spectrum of presentation which ranges from mild disease to a severe form comprising of jaundice and renal failure. Involvement of the lung can vary from subtle clinical features to deadly pulmonary hemorrhage and acute respiratory distress syndrome. Of late, it has been identified that leptospirosis can present atypically with predominant pulmonary manifestations. This can delay diagnosis making and hence optimum treatment. The purpose of this review is to bring together all the reported pulmonary manifestations of leptospirosis and the recent trends in the management.

  11. PULMONARY CIRCULATION AT EXERCISE

    OpenAIRE

    R. Naeije; CHESLER, N

    2012-01-01

    The pulmonary circulation is a high flow and low pressure circuit, with an average resistance of 1 mmHg.min.L−1 in young adults, increasing to 2.5 mmHg.min.L−1 over 4–6 decades of life. Pulmonary vascular mechanics at exercise are best described by distensible models. Exercise does not appear to affect the time constant of the pulmonary circulation or the longitudinal distribution of resistances. Very high flows are associated with high capillary pressures, up to a 20–25 mmHg threshold associ...

  12. PULMONARY EMBOLISM: DIAGNOSIS BY FOUNDATIONS

    OpenAIRE

    Грабовський, Ю. В.

    2015-01-01

    Pulmonary embolism (PE) – this obstruction pulmonary arterial clot (embolus or) formed in the venous system, the right atrium and right ventricle of the heart, or other material that ended up in the pulmonary circulation (droplets of fat, bone marrow, tumor cells, air, parasites, fragments of catheters etc.), resulting in lung parenchyma preryvayetsya circulation. This leads to the development of hypertension, pulmonary circulation and compensated or decompensated pulmonary heart. This is one...

  13. Pulmonary arterial hypertension: an update

    OpenAIRE

    Hoendermis, E.S.

    2011-01-01

    Pulmonary arterial hypertension (PAH), defined as group 1 of the World Heart Organisation (WHO) classification of pulmonary hypertension, is an uncommon disorder of the pulmonary vascular system. It is characterised by an increased pulmonary artery pressure, increased pulmonary vascular resistance and specific histological changes. It is a progressive disease finally resulting in right heart failure and premature death. Typical symptoms are dyspnoea at exercise, chest pain and syncope; furthe...

  14. Partial anomalous pulmonary venous return in patients with pulmonary hypertension

    International Nuclear Information System (INIS)

    Anomalous pulmonary venous return is an uncommon congenital malformation, and may be partial or total. Partial anomalous pulmonary venous return (PAPVR) is more common than total anomalous pulmonary venous return, and is often associated with other congenital cardiac anomalies. Whilst many patients with PAPVR remain asymptomatic, some may present in later age with symptoms related to left-to-right shunt, right heart failure and pulmonary hypertension. We report two cases of PAPVR detected on Computed Tomography Pulmonary Angiogram (CTPA) for the work up of pulmonary hypertension. The cases demonstrate that, although uncommon, partial anomalous pulmonary venous return can be a contributing factor to pulmonary hypertension and pulmonary veins should be carefully examined when reading a CTPA study.

  15. Idiopathic pulmonary fibrosis

    Science.gov (United States)

    ... Measurements of blood oxygen level (arterial blood gases) Pulmonary function tests 6-minute walk test Tests for connective tissue diseases such as rheumatoid arthritis , lupus, or scleroderma Open lung (surgical) lung biopsy

  16. Pulmonary Hypertension in Scleroderma

    Science.gov (United States)

    ... Revatio ® . Sildenafil has been shown to improve exercise capacity, pulmonary artery pressure, and functional class in patients with ... Riociguat has been shown to significantly improve exercise ... TRANSPLANTATION Lung transplantation is reserved for patients with ...

  17. Reperfusion pulmonary edema

    International Nuclear Information System (INIS)

    Reperfusion following lower-torso ischemia in humans leads to respiratory failure manifest by pulmonary hypertension, hypoxemia, and noncardiogenic pulmonary edema. The mechanism of injury has been studied in the sheep lung lymph preparation, where it has been demonstrated that the reperfusion resulting in pulmonary edema is due to an increase in microvascular permeability of the lung to protein. This respiratory failure caused by reperfusion appears to be an inflammatory reaction associated with intravascular release of the chemoattractants leukotriene B4 and thromboxane. Histological studies of the lung in experimental animals revealed significant accumulation of neutrophils but not platelets in alveolar capillaries. The authors conclude that thromboxane generated and released from the ischemic tissue is responsible for the transient pulmonary hypertension. Second, it is likely that the chemoattractants are responsible for leukosequestration, and third, neutrophils, oxygen-derived free radicals, and thromboxane moderate the altered lung permeability

  18. Pulmonary hyalinizing granulomas.

    Science.gov (United States)

    Macedo, E V; Adolph, J

    1985-03-01

    Little has been written about pulmonary hyalinizing granuloma as a cause of nodules in the lungs. In a patient with a past history of carcinoma of the breast, the diagnosis made a significant difference in the prognosis. PMID:2984210

  19. Pulmonary neuroendocrine (carcinoid) tumors

    DEFF Research Database (Denmark)

    Caplin, M E; Baudin, E; Ferolla, P;

    2015-01-01

    carried out in PubMed for the terms 'pulmonary neuroendocrine tumors', 'bronchial neuroendocrine tumors', 'bronchial carcinoid tumors', 'pulmonary carcinoid', 'pulmonary typical/atypical carcinoid', and 'pulmonary carcinoid and diagnosis/treatment/epidemiology/prognosis'. A systematic review...... of the relevant literature was carried out, followed by expert review. RESULTS: PCs are well-differentiated neuroendocrine tumors and include low- and intermediate-grade malignant tumors, i.e. typical (TC) and atypical carcinoid (AC), respectively. Contrast CT scan is the diagnostic gold standard for PCs......, but pathology examination is mandatory for their correct classification. Somatostatin receptor imaging may visualize nearly 80% of the primary tumors and is most sensitive for metastatic disease. Plasma chromogranin A can be increased in PCs. Surgery is the treatment of choice for PCs with the aim of removing...

  20. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism

    OpenAIRE

    Markus N. Preising; Forster, Hedwig; Gonser, Miriam; Lorenz, Birgit

    2011-01-01

    Background A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence var...

  1. Dental enamel Hypoplasia. Investigations on the Bones Exhumed from the Medieval Necropole of Lozova (Republic of Moldova, XIVth–XVth Centuries

    Directory of Open Access Journals (Sweden)

    Robert Daniel Simalcsik

    2014-10-01

    Full Text Available Dental hypoplasia is a developmental anomaly based on perturbations of amelogenesis. Hypoplasia defects are part of the unspecific quantitative indicators for the state of health and / or nutritional state during the formation of the dental buds. It is a response of the human organism to physiological stress. The incidence of this dysplasia in a past population can indicate its biological frailty in its attempt to adapt to the environmental changes. The osteological material was excavated in the interval 2010 – 2011 by archaeologists from the Archaeology Centre in Chisinau, from the Medieval cemetery of Lozova (Straseni County, Republic of Moldova, dated for the XIVth and XVth centuries. Fifty one skeletons from 50 inhumation graves have been excavated and analyzed so far. Only 40 individuals had most of their teeth present. The enamel hypoplasia is of linear transversal type, located on the labial surface of the dental crowns, in the median third. The canine is the most affected tooth, followed by the incisors. The incidence of dental enamel hypoplasia at population level (based on the data collected and on the number of graves excavates so far, which does not illustrate the entire population of the cemetery is 7.5%. The incidence of dental caries is 23.53%, of cribra orbitalia – 11.75%, and of cribra cranii externa – 1.96%. The results obtained for a relatively small rural community illustrate a good adaptation to the stressing environmental factors. The possible malnutrition and illness episodes suffered during early childhood were recovered along the growth and development processes.

  2. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

    OpenAIRE

    Van Bokhoven, H.; Jung, M; Smits, A P; van Beersum, S.; Rüschendorf, F; Van Steensel, M; Veenstra, M; Tuerlings, J.H.; Mariman, E.C.; Brunner, H.G.; Wienker, T. F.; Reis, A.; Ropers, H H; Hamel, B C

    1999-01-01

    We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia, and cleft palate with or without bifid uvula. This combination of symptoms has not been reported previously, although there is overlap with the ulnar mammary syndrome (UMS) and with ectrodactyly, ectodermal dysplasia, and clefting syndrome. Al...

  3. Three dimensional endo-cardiovascular volume-rendered cine computed tomography of isolated left ventricular apical hypoplasia; A case report and literature review

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Sun Hwa; Kim, Yang Min; Lee, Hyun Jong [Sejong General Hospital, Bucheon (Korea, Republic of)

    2016-02-15

    We report multidetector computed tomography (MDCT) and cardiac magnetic resonance (CMR) findings of a 34-year-old female with isolated left ventricular apical hypoplasia. The MDCT and CMR scans displayed a spherical left ventricle (LV) with extensive fatty infiltration within the myocardium at the apex, interventricular septum and inferior wall, anteroapical origin of the papillary muscle, right ventricle wrapping around the deficient LV apex, and impaired systolic function. MDCT visualized morphologic and also functional findings of this unique cardiomyopathy.

  4. Pulmonary mycosis in AIDS

    International Nuclear Information System (INIS)

    We retrospectively reviewed our series of 35 pulmonary mycosis in patients with AIDS, observed from 1987 to 1999, to correlate the imaging and pathologic findings. We further evaluated the frequency of fungal pneumonia before and after the use of a highly active antiretroviral therapy (HAART). Early recognition of pulmonary mycosis is imperative in these patients and improved survival can be achieved with early CT detection and prompt institution of high-dose antifungal therapy

  5. Pulmonary mycosis in AIDS

    Energy Technology Data Exchange (ETDEWEB)

    Busi Rizzi, Elisa; Schinina, Vincenzo; Bellussi, Angelo; De Santis, Andrea; Mazzuoli, Giovanna; Giosue, Sandro; Bibbolino, Corrado

    2001-01-01

    We retrospectively reviewed our series of 35 pulmonary mycosis in patients with AIDS, observed from 1987 to 1999, to correlate the imaging and pathologic findings. We further evaluated the frequency of fungal pneumonia before and after the use of a highly active antiretroviral therapy (HAART). Early recognition of pulmonary mycosis is imperative in these patients and improved survival can be achieved with early CT detection and prompt institution of high-dose antifungal therapy.

  6. ROCKing pulmonary fibrosis

    OpenAIRE

    Sheppard, Dean

    2013-01-01

    Clinical vignette: A 76-year-old man consults you for increasing shortness of breath over the past two years and an increasing requirement for home oxygen. A video-assisted thoracoscopic lung biopsy shows findings of usual interstitial pneumonitis, and he has no identifiable cause for pulmonary fibrosis, so he is considered to have idiopathic pulmonary fibrosis (IPF). His diffusing capacity for carbon monoxide (DLCO) is 45% of predicted, and his total lung capacity is 40% of predicted. Becaus...

  7. Pulmonary Rehabilitation in Emphysema

    OpenAIRE

    Ries, Andrew L.; Make, Barry J; Reilly, John J.

    2008-01-01

    Pulmonary rehabilitation is an established treatment for patients with chronic lung disease. Benefits include improvement in exercise tolerance, symptoms, and quality of life, with a reduction in the use of health care resources. As an adjunct to surgical programs, such as lung volume reduction surgery, pulmonary rehabilitation plays an important role not just in preparing patients for surgery and facilitating recovery but also in selecting patients and ensuring informed choices about treatme...

  8. Pulmonary alveolar proteinosis

    OpenAIRE

    Crestani, B; Epaud, R.; Aubier, M.; M-C. Dombret; Taille, C.; M-P. Debray; Danel, C.; R. Borie

    2011-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 9...

  9. Primary pulmonary alveolar proteinosis

    OpenAIRE

    Šarac Sanja; Milić Rade; Zolotarevski Lidija; Aćimović Slobodan; Tomić Ilija; Plavec Goran

    2012-01-01

    Introduction. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Acquired disease can be idiopathic (primary) and secondary. The prevalence of acquired pulmonary alveolar proteinosis is about 0.37 per 100,000 persons. Common symptoms are dyspnea and cough. Chest X-ray shows bilateral perihilar infiltrates. Open-lung biopsy is the gold standard for the diagnosis. Treatment includes w...

  10. Congenital Pulmonary Alveolar Proteinosis

    OpenAIRE

    Saber Hammami; Khaled Harrathi; Khaled Lajmi; Samir Hadded; Chebil Ben Meriem; Mohamed Néji Guédiche

    2013-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the curr...

  11. Pulmonary interstitial emphysema.

    OpenAIRE

    Greenough, A; Dixon, A K; Roberton, N R

    1984-01-01

    Forty one of 210 preterm infants ventilated for respiratory distress syndrome in a three year period had radiological evidence of pulmonary interstitial emphysema. The development of this condition was significantly associated with malpositioning of the endotracheal tube in a main bronchus and the use of high peak pressure ventilation. Pulmonary interstitial emphysema was associated with a significant increase in the number of pneumothoraces, intraventricular haemorrhages, and the need for pr...

  12. Gestational pulmonary arterial hypertension

    OpenAIRE

    Moll, Matthew; Payne, Julie G.; Tukey, Melissa H.; Farber, Harrison W.

    2015-01-01

    Pulmonary arterial hypertension (PAH) is a progressive disease marked by the irreversible pulmonary vascular changes of vasoconstriction, thrombosis, and proliferation of smooth muscle and endothelial cells. The untreated clinical course is characterized by progressive dyspnea and a median survival of less than 3 years. Many of these patients are of child-bearing age; however, pregnancy leads to physiologic changes that are particularly poorly tolerated in PAH, conferring a 30%–56% mortality....

  13. Reexpansion Pulmonary Edema

    OpenAIRE

    Yasemin Işık; İsmail Katı; Onur Palabıyık; Uğur Göktaş

    2011-01-01

    Reexpansion pulmonary edema is a rare but life threating complication which is occurring during the treatment of lung collapse secondary to pleural effusion, pneumothorax or atelectasis. We presented a 68 year-old case with hypertension, heart failure, cerebrovascular disease and diabetes mellitus who had developed reexpansion pulmonary edema three hours after the application of unilateral thoracentesis (Journal of the Turkish Society of Intensive Care 2011; 9: 26-9)

  14. Diagnosing pulmonary embolism

    Directory of Open Access Journals (Sweden)

    Khosla Rahul

    2006-01-01

    Full Text Available Pulmonary embolism (PE is a common, treatable, highly lethal emergency, which despite advances in diagnostic testing, remains an under diagnosed killer. The mortality rate of diagnosed and treated pulmonary embolism ranges from 3-8%, but increases to about 30% in untreated pulmonary embolism. PE is a part of the spectrum of venousthromboembolic disease and most pulmonary emboli have their origin from clots in the iliac, deep femoral, or popliteal veins. Nonspecific clinical signs and symptoms with low sensitivity and specificity of routine tests such as arterial blood gas, chest roentgenogram and electrocardiogram make the diagnosis of PE very challenging for the clinician. Pulmonary angiography is the gold standard diagnostic test, but this technique is invasive, expensive, not readily available and labor intensive. Diagnostic strategies have revolved around establishing clinical probabilities based on predictive models, then ruling in or ruling out the diagnosis of PE with various tests. The aim of this article was to review the literature and present an evidence- based medicine approach to diagnosis of pulmonary embolism.

  15. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

    Science.gov (United States)

    Gulsuner, Suleyman; Tekinay, Ayse Begum; Doerschner, Katja; Boyaci, Huseyin; Bilguvar, Kaya; Unal, Hilal; Ors, Aslihan; Onat, O. Emre; Atalar, Ergin; Basak, A. Nazli; Topaloglu, Haluk; Kansu, Tulay; Tan, Meliha; Tan, Uner; Gunel, Murat; Ozcelik, Tayfun

    2011-01-01

    The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1–13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological abnormalities in the cerebellum and corpus callosum, in particular atrophy of superior, middle, and inferior peduncles of the cerebellum. Structural magnetic resonance imaging showed additional morphometric abnormalities in several cortical areas, including the corpus callosum, precentral gyrus, and Brodmann areas BA6, BA44, and BA45. Targeted sequencing of the entire homozygous region in three affected individuals and two obligate carriers uncovered a private missense mutation, WDR81 p.P856L, which cosegregated with the condition in the extended family. The mutation lies in a highly conserved region of WDR81, flanked by an N-terminal BEACH domain and C-terminal WD40 beta-propeller domains. WDR81 is predicted to be a transmembrane protein. It is highly expressed in the cerebellum and corpus callosum, in particular in the Purkinje cell layer of the cerebellum. WDR81 represents the third gene, after VLDLR and CA8, implicated in quadrupedal locomotion in humans. PMID:21885617

  16. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

    Science.gov (United States)

    Ozcelik, Tayfun; Akarsu, Nurten; Uz, Elif; Caglayan, Safak; Gulsuner, Suleyman; Onat, Onur Emre; Tan, Meliha; Tan, Uner

    2008-01-01

    Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozygosity among affected relatives mapped the trait to a 1.3-Mb region of chromosome 9p24. This genomic region includes the VLDLR gene, which encodes the very low-density lipoprotein receptor, a component of the reelin signaling pathway involved in neuroblast migration in the cerebral cortex and cerebellum. Sequence analysis of VLDLR revealed nonsense mutation R257X in family A and single-nucleotide deletion c2339delT in family D. Both these mutations are predicted to lead to truncated proteins lacking transmembrane and signaling domains. In two other families (B and C), the phenotype is not linked to chromosome 9p. Our data indicate that mutations in VLDLR impair cerebrocerebellar function, conferring in these families a dramatic influence on gait, and that hereditary disorders associated with quadrupedal gait in humans are genetically heterogeneous. PMID:18326629

  17. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

    Science.gov (United States)

    Breuss, Martin W; Sultan, Tipu; James, Kiely N; Rosti, Rasim O; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, André; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S; Reuter, Miriam S; Abou Jamra, Rami; Trotta, Christopher R; Gleeson, Joseph G

    2016-07-01

    The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved in the cleavage of intron-containing tRNAs. In human it consists of the catalytic subunits TSEN2 and TSEN34, as well as the non-catalytic TSEN54 and TSEN15. Recessive mutations in the corresponding genes of the first three are known to cause pontocerebellar hypoplasia (PCH) types 2A-C, 4, and 5. Here, we report three homozygous TSEN15 variants that cause a milder version of PCH2. The affected individuals showed progressive microcephaly, delayed developmental milestones, intellectual disability, and, in two out of four cases, epilepsy. None, however, displayed the central visual failure seen in PCH case subjects where other subunits of the TSEN are mutated, and only one was affected by the extensive motor defects that are typical in other forms of PCH2. The three amino acid substitutions impacted the protein level of TSEN15 and the stoichiometry of the interacting subunits in different ways, but all resulted in an almost complete loss of in vitro tRNA cleavage activity. Taken together, our results demonstrate that mutations in any known subunit of the TSEN complex can cause PCH and progressive microcephaly, emphasizing the importance of its function during brain development. PMID:27392077

  18. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

    Science.gov (United States)

    Rider, Nicholas L.; Strauss, Kevin A.; Morton, D. Holmes; Adair, Margaret; Bonilla, Francisco A.; Ochs, Hans D.; Gelfand, Erwin W.; Pessach, Itai M.; Walter, Jolan E.; King, Alejandra; Giliani, Silvia; Pai, Sung-Yun; Notarangelo, Luigi D.

    2015-01-01

    Background Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease gene, which is involved in ribosomal assembly, telomere function, and cell cycle control. Objectives We aimed to define thymic output and characterize immune function in a cohort of patients with molecularly defined CHH with and without associated clinical immunodeficiency. Methods We studied the distribution of B and T lymphocytes (including recent thymic emigrants), in vitro lymphocyte proliferation, cell cycle, and apoptosis in 18 patients with CHH compared with controls. Results Patients with CHH have a markedly reduced number of recent thymic emigrants, and their peripheral T cells show defects in cell cycle control and display increased apoptosis, resulting in poor proliferation on activation. Conclusion These data confirm that RMRP mutations result in significant defects of cell-mediated immunity and provide a link between the cellular phenotype and the immunodeficiency in CHH. PMID:21570718

  19. CT findings of pulmonary aspergillosis

    Energy Technology Data Exchange (ETDEWEB)

    Cheon, Jung Eun; Im, Jung Gi; Goo, Jin Mo; Kim, Hong Dae; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1995-10-15

    The fungus aspergillus can cause a variety of pulmonary disorders. Aspergilloma is a noninvasive aspergillus colonization of virtually any type of preexisting pulmonary cavity or cystic space. Invasive pulmonary aspergillosis is serious, usually fatal infection in patients being treated with immunosuppressants or who have chronic debilitating disease. Allergic bronchopulmonary aspergillosis is characterized clinically by asthma, blood and sputum eosinophilia and positive immunologic reaction to aspergillus antigen. Awareness of the radiographic and CT findings of pulmonary aspergillosis is important in making the diagnosis of aspergillus-caused pulmonary disorders. In this pictorial essay, we illustrated various radiological findings of pulmonary aspergillosis focused on CT findings correlated with gross pathologic specimens.

  20. Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

    Science.gov (United States)

    Walker, A P; Fowkes, R C; Saleh, F; Kim, S-H; Wilkinson, P; Cabrera-Sharp, V; Talmud, P J; Humphries, S E; Looijenga, L H J; Bouloux, P M G

    2012-01-01

    There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. We aimed to define the basis of AHC/HH in 4 pedigrees of different ethnic backgrounds. One patient was elected to have testicular biopsy which was examined for evidence of carcinoma in situ (CIS). NR0B1 mutation analysis was performed by sequence analysis. NR0B1 expression was investigated by RT-PCR. Testicular biopsy sections were stained with HE or immunostained for OCT3/4, an established marker of CIS. We identified NR0B1 variants in the 4 AHC pedigrees: pedigree 1 (United Arab Emirates), c.1130A>G predicting p.(Glu377Gly); pedigree 2 (English Caucasian), c.327C>A predicting p.(Cys109*); pedigree 3 (Oman), a 6-bp deletion of a direct repeat, c.857_862delTGGTGC predicting p.(Leu286_Val287del); pedigree 4 (English Caucasian), c.1168+1G>A, a regulatory variant within the NR0B1 splice donor site. This last male patient, aged 30 years, presented with evidence of HH but incomplete gonadotrophin deficiency, following an earlier diagnosis of Addison's disease at 3 years. Hormonal therapy induced virilisation. Testicular biopsy was performed. The c.1168+1G>A variant abrogated normal splicing of testicular mRNA. Histological examination showed poorly organised testicular architecture and absence of spermatozoa. Morphological analyses and the absence of immunohistochemical staining for OCT3/4 excluded the presence of malignant germ cell cancer and its precursor lesion, CIS. These studies add to the knowledge of the types and ethnic diversity of NR0B1 mutations and their associated phenotypes, and provide insight into the assessment and interpretation of testicular histology in AHC and HH. PMID:23018754

  1. Pulmonary thromboembolism in children

    Energy Technology Data Exchange (ETDEWEB)

    Babyn, Paul S.; Gahunia, Harpal K. [Hospital for Sick Children, Department of Pediatric Diagnostic Imaging, Toronto, ON (Canada); Massicotte, Patricia [Stollery Children' s Hospital and University of Alberta, Departments of Pediatric Hematology and Cardiology, Edmonton, AB (Canada)

    2005-03-01

    Pulmonary thromboembolism (PTE) is uncommonly diagnosed in the pediatric patient, and indeed often only discovered on autopsy. The incidence of pediatric PTE depends upon the associated underlying disease, diagnostic tests used, and index of suspicion. Multiple risk factors can be found including: peripartum asphyxia, dyspnea, haemoptysis, chest pain, dehydration, septicemia, central venous lines (CVLs), trauma, surgery, ongoing hemolysis, vascular lesions, malignancy, renal disease, foreign bodies or, uncommonly, intracranial venous sinus thrombosis, burns, or nonbacterial thrombotic endocarditis. Other types of embolism can occur uncommonly in childhood and need to be recognized, as the required treatment will vary. These include pulmonary cytolytic thrombi, foreign bodies, tumor and septic emboli, and post-traumatic fat emboli. No single noninvasive test for pulmonary embolism is both sensitive and specific. A combination of diagnostic procedures must be used to identify suspect or confirmed cases of PTE. This article reviews the risk factors, clinical presentation and treatment of pulmonary embolism in children. It also highlights the current diagnostic tools and protocols used to evaluate pulmonary embolism in pediatric patients. (orig.)

  2. Pulmonary edema in renal failure

    International Nuclear Information System (INIS)

    Forty-nine cases of pulmonary edema in nephropatic patients were studied. The most frequent radiologic findings are discussed. The unreliability of a precise differentiation between ''cardiac'' and ''renal'' patterns of pulmonary edema in nephropatic patients is emphasized

  3. Pulmonary artery sling: Case report

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Gil Hyun; Lee, Sun Wha; Cha, Sung Ho [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

    1993-09-15

    Aberrant left-sided pulmonary artery(pulmonary artery sling) is an uncommon anomaly,which may cause significant respiratory abnormality. We report a case of pulmonary artery sling which is combined with persistent left superior vena cava and dextrocardia. This case were identified by esophagogram and CT and confirmed by MRI and angiography. We consider that MRI is a valuable new method for the diagnosis of aberrant left-sided pulmonary artery.

  4. Radiographic signs of pulmonary diseases

    International Nuclear Information System (INIS)

    The first part of the radiographic interpretation in pulmonary radiography is the description of radiographic signs. They are presented in terms of: (i) changes in pulmonary volume and (ii) changes in pulmonary density. Changes in density should be precisely located and characterized. A protocole for the description of pulmonary changes is therefore proposed. A few words are then said on how to interprete these radiographic signs

  5. Genetics Home Reference: pulmonary veno-occlusive disease

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions pulmonary veno-occlusive disease pulmonary veno-occlusive disease Enable Javascript to view the ... Disease Control and Prevention: Pulmonary Hypertension Fact Sheet Disease InfoSearch: Pulmonary venoocclusive ... pulmonary venoocclusive disease Orphanet: Pulmonary ...

  6. Primary pulmonary Hodgkin's lymphoma

    International Nuclear Information System (INIS)

    Two cases of primary pulmonary Hodgkin's lymphoma (PPHL) are presented, a male aged 21, and a female aged 32 years. Symptoms included non-productive cough, shortness of breath, low grade fever, wheezing and weight loss. Duration of illness varied between 6 weeks in the male patient to female patient. Both patients were given an empirical trial of antibiotics and anti-cough measures with no response. Radiological studies carried out after failure to respond to medical treatment, revealed the presence of pulmonary parenchymal masses in both patients. Cytology, bronchoscopic and transbronchial biopsies were not diagnostic, which led to opened wedge resections. Finally, the diagnosis of primary pulmonary Hodgkin's disease was reached after supportive immunohistochemical staining (CD 30 and CD 15 both positive in Rs cells). Both patients were regarded as stage I extranodal (IE) after exhaustive measures failed to demonstrate involvement of other body cites. (author)

  7. Symptomatic pulmonary hyalinizing granuloma.

    Science.gov (United States)

    Ramirez, J; Mehta, J B; Taylor, R A; Byrd, R P; Roy, T M

    1998-09-01

    An otherwise healthy 37-year-old man came to the emergency room with left-sided dull chest pain of 4 weeks' duration. Physical examination, laboratory studies, and electrocardiogram were all unremarkable. A chest x-ray film revealed calcified pulmonary nodules. Computed tomography of the chest confirmed bilateral parenchymal cavitary lesions. Via limited thoracotomy, a tan nodule measuring 2.5 to 3.0 cm in diameter was excised from the left upper lobe. Histopathologic examination revealed a well circumscribed lesion and extensive lamellar hyalinization. A few foci of finely granular calcification were present within the hyalinizing areas. After surgery and short-term use of nonnarcotic analgesics, the chest pain resolved. Although pulmonary hyalinizing granuloma (PHG) is known to produce cavitating lesions, calcification at multiple sites is also consistent with this diagnosis. Clinicians should remember to include PHG in the differential diagnosis of multiple pulmonary nodules. PMID:9743062

  8. Pulmonary lymphatics and radiation

    International Nuclear Information System (INIS)

    Knowledge of the anatomy and physiology of the respiratory system has been more difficult to acquire than that of other organ systems owing to the complexity of the respiratory function of the lungs and to the technical difficulties involved. This is especially true of the lymphatics of the lung and is illustrated by the fact that the first measurement of pulmonary lymph flow was in 1942 by Warren and Drinker. A review of the literature reveals that few experiments have been designed to study the pulmonary lymphatics per se in relation to the effects of external radiation or after the inhalation of radioactive particles. However, the documented involvement of hilar lymph nodes implies that the lung lymphatics have a role in transporting particles from the alveoli or malignant cells from the parenchyma. Information from clinical and experimental sources, though scattered, is fairly abundant and of value in assessing the role of the pulmonary lymphatics. Our method for collecting pulmonary lymph is presented. Studies on the pulmonary lymph flow in normal dogs and in dogs with experimental congestive heart failure are described. We irradiated (4000 to 5000 R) the medial one-third of both lungs of a series of dogs. The lymph flow of the lungs was measured immediately after the course of irradiation and after a period of about 5 months. Although lung biopsies showed characteristic radiation pneumonitis in many areas, alterations in the lung parenchyma were not quantitatively reflected in the pulmonary lymph flow either in the acute stage or after fibrosis had time to develop

  9. A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.

    Science.gov (United States)

    Melchionda, Laura; Damseh, Nadirah S; Abu Libdeh, Bassam Y; Nasca, Alessia; Elpeleg, Orly; Zanolini, Alice; Ghezzi, Daniele

    2014-01-01

    Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome b, or in assembly factor genes (BCS1L, TTC19, UQCC2, and LYRM7), whereas mutations in nuclear genes encoding cIII structural subunits are extremely infrequent. We report here a patient, a 9 year old female born from first cousin related parents, with normal development till 18 months when she showed unsteady gait with frequent falling down, cognitive, and speech worsening. Her course deteriorated progressively. Brain MRI showed cerebellar vermis hypoplasia and bilateral lentiform nucleus high signal lesions. Now she is bed ridden with tetraparesis and severely impaired cognitive and language functions. Biochemical analysis revealed isolated cIII deficiency in muscle, and impaired respiration in fibroblasts. We identified a novel homozygous rearrangement in TTC19 (c.213_229dup), resulting in frameshift with creation of a premature termination codon (p.Gln77Argfs*30). Western blot analysis demonstrated the absence of TTC19 protein in patient's fibroblasts, while Blue-Native Gel Electrophoresis analysis revealed the presence of cIII-specific assembly intermediates. Mutations in TTC19 have been rarely associated with mitochondrial disease to date, being described in about ten patients with heterogeneous clinical presentations, ranging from early onset encephalomyopathy to adult forms with cerebellar ataxia. Contrariwise, the biochemical defect was a common hallmark in TTC19 mutant patients, confirming the importance of TTC19 in cIII assembly/stability. Therefore, we suggest extending the TTC19 mutational screening to all patients with cIII deficiency, independently from their phenotypes. PMID:25452764

  10. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: Case report

    Directory of Open Access Journals (Sweden)

    Durković Jasmina

    2014-01-01

    Full Text Available Introduction. X-linked adrenal hypoplasia congenita (AHC is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3 levels in the second trimester of pregnancy could indicate the possibility that the fetus suffers from a disorder that causes adrenal insufficiency. Suspicion is based on the fact that E3 originates from dehydroepiandrosterone (DHEA synthesized in the fetal adrenals. In case of adrenal insufficiency, the impaired production of fetal DHEA leads to a subsequent reduction of E3 concentrations in maternal serum. There are only a few reports of AHC suspected prenatally due to low maternal E3 levels. Case Outline. We describe two brothers with adrenal insufficiency due to AHC. The older brother was admitted to the hospital at the age of 33 days due to failure to thrive, vomiting, and dehydration. Genetic analysis revealed a hemizygous mutation in DAX-1 gene, thus confirming the diagnosis of ACH. The same mutation was detected in his mother. In the second pregnancy, E3 concentrations were determined from maternal serum. Estriol levels during the second trimester were extremely low suggesting the diagnosis of AHC. The diagnosis was confirmed during the neonatal period by genetic testing, and replacement therapy was started at the age of 10 days. This boy never experienced an adverse episode such as hypoglycemia or adrenal crises. Conclusion. Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

  11. Pulmonary hypertension in chronic obstructive pulmonary disease

    International Nuclear Information System (INIS)

    Pulmonary hypertension (PH) is a relatively common complication of chronic obstructive pulmonary disease (COPD). Its appearance during the course of COPD is associated with a worsened prognosis, due to reduced life expectancy and greater use of health care resources. Although a well-defined lineal relationship has not been shown, the prevalence of PH in patients with COPD is higher in cases characterized by greater obstruction and severity. PH is infrequent in cases of mild and moderate COPD. In cases of COPD, PH is generally mild or moderate, and seldom impairs right ventricular function. In many cases it is not apparent during rest, and manifests itself during exercise. PH can be severe or out of proportion with the severity of COPD. In this situation, the possibility of associated conditions should be explored, although COPD might be the only final explanation. There is scarce knowledge about the prevalence and behavior of PH in patients with COPD residing at intermediate and high altitudes (>2.500 meters above sea level), which is a common situation in Latin America and Asia. PH in COPD is not exclusively related with hypoxia/hypoxaemia and hypercapnia. The mechanical disturbances related with COPD (hyper inflation and high alveolar pressure) and inflammation may prevail as causes of endothelial injury and remodeling of pulmonary circulation, which contribute to increased pulmonary vascular pressure and resistance. The appearance of signs of corpulmonale indicates advanced PH. This condition should therefore be suspected early when dyspnoea, hypoxaemia, and impairment of diffusion are not in keeping with the degree of obstruction. PH is confirmed by Doppler echocardiography. Right heart catheterization may be justified in selected cases. Long-term oxygen therapy is the only intervention proven to be temporarily useful. Conventional vasodilators do not produce medium- or long-term improvement and can be detrimental to the ventilation-perfusion relation. Neither

  12. Reexpansion pulmonary edema

    Directory of Open Access Journals (Sweden)

    Genofre Eduardo Henrique

    2003-01-01

    Full Text Available Reexpansion pulmonary edema (RPE is a rare, but frequently lethal, clinical condition. The precise pathophysiologic abnormalities associated with this disorder are still unknown, though decreased pulmonary surfactant levels and a pro-inflammatory status are putative mechanisms. Early diagnosis is crucial, since prognosis depends on early recognition and prompt treatment. Considering the high mortality rates related to RPE, preventive measures are still the best available strategy for patient handling. This review provides a brief overview of the pathophysiology, diagnosis, treatment, and prevention of RPE, with practical recommendations for adequate intervention.

  13. Congenital Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Saber Hammami

    2013-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the current standard treatment for PAP patients. We report a new congenital case of PAP.

  14. Pulmonary lymphangioleiomyomatosis: case reports

    International Nuclear Information System (INIS)

    We reviewed the radiologic, physiologic, and pathologic features of biopsy-proved pulmonary lymphangioleiomyomatosis (LAM) in 2 patients. Chest radiographs showed diffuse increased interstitial lung markings with normal or slightly increased lung volume. The prominent computed tomographic (CT) feature was thin-walled cysts throughout the lungs. Pulmonary function test showed a mixed obstructive and restrictive pattern in one and a mainly restrictive pattern in another, which was somewhat different from that of the reported cases. Proliferation of smooth muscle cells in the lymphatics, alveolar septae, vessels, and bronchioles was the pathologic finding

  15. Alteration in pulmonary perfusion due to iatrogenic pulmonary vein stenosis: A mimicker of pulmonary embolism

    OpenAIRE

    Ostwani, Wesam; Arabi, Mohammad

    2011-01-01

    Iatrogenic pulmonary vein stenosis (PVS) is a known, yet rare, complication of atrial radiofrequency ablation. Alterations in pulmonary perfusion may mimic massive pulmonary embolism on a ventilation/perfusion (V/Q) scintigraphy. This is particularly important due to the overlap in presenting clinical symptoms. The present case illustrates the functional significance of PVS and the changes in perfusion in response to angioplasty.

  16. Radiological diagnosis of pulmonary hypertension

    International Nuclear Information System (INIS)

    In 43 patients with obstructive and restrictive lung disease a catheterisation of the right heart with measurement of pulmonary artery pressure was performed. In a retrospective study several radiological parameters of pulmonary hypertension were evaluated on the chest radiographs of these patients. Considering those parameters on the p.a. and lateral chest radiograph, the diagnosis of pulmonary hypertension in patients with elevated pulmonary artery pressure at rest can be made with great accuracy. When pulmonary artery pressure is elevated only during exercise, the accuracy of radiological diagnosis is much lower. (orig.)

  17. Hantavirus Pulmonary Syndrome

    Centers for Disease Control (CDC) Podcasts

    2011-07-14

    Dr. Adam MacNeil, epidemiologist with Viral Special Pathogens Branch at CDC, discusses hantavirus pulmonary syndrome.  Created: 7/14/2011 by National Center for Emerging Zoonotic and Infectious Diseases (NCEZID).   Date Released: 7/18/2011.

  18. Pulmonary langerhans cell histiocytosis

    Directory of Open Access Journals (Sweden)

    Suri Harpreet S

    2012-03-01

    Full Text Available Abstract Pulmonary Langerhans Cell Histiocytosis (PLCH is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette smokers. The pathologic hallmark of PLCH is the accumulation of Langerhans and other inflammatory cells in small airways, resulting in the formation of nodular inflammatory lesions. While the overwhelming majority of patients are smokers, mechanisms by which smoking induces this disease are not known, but likely involve a combination of events resulting in enhanced recruitment and activation of Langerhans cells in small airways. Bronchiolar inflammation may be accompanied by variable lung interstitial and vascular involvement. While cellular inflammation is prominent in early disease, more advanced stages are characterized by cystic lung destruction, cicatricial scarring of airways, and pulmonary vascular remodeling. Pulmonary function is frequently abnormal at presentation. Imaging of the chest with high resolution chest CT scanning may show characteristic nodular and cystic abnormalities. Lung biopsy is necessary for a definitive diagnosis, although may not be required in instances were imaging findings are highly characteristic. There is no general consensus regarding the role of immunosuppressive therapy in smokers with PLCH. All smokers must be counseled on the importance of smoking cessation, which may result in regression of disease and obviate the need for systemic immunosuppressive therapy. The prognosis for most patients is relatively good, particularly if longitudinal lung function testing shows stability. Complications like pneumothoraces and secondary pulmonary hypertension may shorten life expectancy. Patients with progressive disease may require lung transplantation.

  19. [Multiple pulmonary hyalinizing granuloma].

    Science.gov (United States)

    Haro, M; Ruiz, J; Vila, X; Avellanet, M; Izquierdo, J

    1994-01-01

    The causes of multiple pulmonary nodules are many, with metastasis being the most feared. A rare but possible etiology, however, is hyalinizing multiple granuloma. We present a case that allows us to review this condition and its course, as well as a variety of associated immunological changes and possible complications. PMID:8087395

  20. [Pulmonary hyalinizing granuloma].

    Science.gov (United States)

    Westhoff, M; Litterst, P; Albert, M; Welim, B

    2015-01-01

    Benign lesions as pulmonary hyalinizing granuloma may mimic a malign disease. A 63-year old patient complained dyspnea and a weight loss of 30 kg. CT-thorax scans showed a destructive and infiltrative pulmonary process with pleural thickening. Histologic examination of transbronchial and transthoracic biopsies as well as of biopsies taken by minithoracotomy was not conclusive. Due to further progression the patient underwent a left-sided pleuropneumonectomy despite a VO2 peak of 9 ml/kg/min. Histology revealed DIP-like infiltrations, a histiocytic reaction and hyaline granulomas. Among less than 100 published cases of pulmonary hyaline granuloma a comparable rapid progression with a total functional loss of the affected lung is not reported. Mostly hyalinizing granuloma presents with infiltrations, which may mimic lung cancer, or nodular lesions, partly with cavitations or calcifications. The etiology is unknown, a persistent immunologic response to an antigenic stimulus is discussed. Associations with infections, lymphomas, amyloidosis or IgG4-related disease are reported. Some cases have features of multifocal fibrosis. In the case reported none of these associations could be found. The prognosis of pulmonary hyaline granuloma is regarded as benign. There is no effective treatment yet. Once the diagnosis has been established a conservative approach as well as a resection of nodules and a therapeutic attempt with steroids are an option. Extensive resections as pleuropneumonectomy are an exception. PMID:25599140

  1. [Pulmonary involvements of sarcoidosis].

    Science.gov (United States)

    Ohmichi, M; Hiraga, Y; Hirasawa, M

    1990-01-01

    We reported about intrathoracic changes and prognosis of 686 patients with sarcoidosis diagnosed in our hospital between 1963 and 1988. We evaluated CT findings in 135 patients with sarcoidosis and found pulmonary involvements in 81. We analyzed CT findings according to the classification by Tuengerthal which classified radiographic findings combining ILO classification of pneumoconiosis and characteristic findings of bronchovascular sheath with sarcoidosis. The CT findings were as follows: small opacities (44 out of 81 cases, 54.3%), large opacities (37 cases, 46.7%). Additional findings were as follows: peribronchial marking (42 cases, 51.9%), contraction (17 cases, 21.0%), pleural involvement (9 cases, 11.1%), bulla (5 cases, 6.2%). The characteristic CT findings of serious sarcoidosis were extasis of bronchus, thickening of the bronchial wall, unclearness of vascular shadow, atelectasis and thickening of pleura. Concerning the prognosis of pulmonary involvement, according to age, patients younger than 30 years old at initial diagnosis were better than those of 30 years and over in terms of disappearance of pulmonary involvements. According to stage, patients of stage I and stage II were better than those of stage III. Among the patients we were able to observe chest X-ray findings during five years according to the character of shadow, ill-defined shadow of small opacities and rounded shadows of large opacities had a higher disappearance rate of pulmonary involvements than irregular shadows of large opacities, atelectasis and contraction.

  2. Primary pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    Šarac Sanja

    2012-01-01

    Full Text Available Introduction. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Acquired disease can be idiopathic (primary and secondary. The prevalence of acquired pulmonary alveolar proteinosis is about 0.37 per 100,000 persons. Common symptoms are dyspnea and cough. Chest X-ray shows bilateral perihilar infiltrates. Open-lung biopsy is the gold standard for the diagnosis. Treatment includes whole-lung lavage, application of granulocyte-macrophage colonystimulating factor and lung transplantation. Case report. We reported a 51 year-old man with primary form of the disease. It was the second case of this extremely rare disease in the past 30 years in our clinic. The symptoms were longlasting dry cough, fever and physical deterioration. Chest Xray revealed bilateral pulmonary infiltrates; computed tomography showed patchy ground-glass opacification with interlobular thickening. The diagnosis was established by open lung biopsy. Additional tests were performed to exclude secondary form of the disease. Conclusion. We presented a rare clinical entity with typical clinical features and clinical and radiological course of the disease, in order to improve differential diagnostic approach to patients with bilateral lung infiltrations. In patients with pulmonary alveolar proteinosis timely diagnosis and adequate treatment can improve a prognosis.

  3. Pulmonary alveolar proteinosis

    OpenAIRE

    Chan, Adrian Kwok Wai; Takano, Angela; Hsu, Ann Ling; Low, Su Ying

    2014-01-01

    We report a 68-year-old female who presented with chronic cough and progressive dyspnoea. Computed tomography of the thorax and subsequent bronchoscopy confirmed the diagnosis of pulmonary alveolar proteinosis (PAP), which was treated with whole lung lavage. This case is reported in view of the low incidence of PAP.

  4. Changing the facial features of patients with Treacher Collins syndrome: protocol for 3-stage treatment of hard and soft tissue hypoplasia in the upper half of the face.

    Science.gov (United States)

    Mitsukawa, Nobuyuki; Saiga, Atsuomi; Satoh, Kaneshige

    2014-07-01

    Treacher Collins syndrome is a disorder characterized by various congenital soft tissue anomalies involving hypoplasia of the zygoma, maxilla, and mandible. A variety of treatments have been reported to date. These treatments can be classified into 2 major types. The first type involves osteotomy for hard tissue such as the zygoma and mandible. The second type involves plastic surgery using bone grafting in the malar region and soft tissue repair of eyelid deformities. We devised a new treatment to comprehensively correct hard and soft tissue deformities in the upper half of the face of Treacher Collins patients. The aim was to "change facial features and make it difficult to tell that the patients have this disorder." This innovative treatment strategy consists of 3 stages: (1) placement of dermal fat graft from the lower eyelid to the malar subcutaneous area, (2) custom-made synthetic zygomatic bone grafting, and (3) Z-plasty flap transposition from the upper to the lower eyelid and superior repositioning and fixation of the lateral canthal tendon using a Mitek anchor system. This method was used on 4 patients with Treacher Collins syndrome who had moderate to severe hypoplasia of the zygomas and the lower eyelids. Facial features of these patients were markedly improved and very good results were obtained. There were no major complications intraoperatively or postoperatively in any of the patients during the series of treatments. In synthetic bone grafting in the second stage, the implant in some patients was in the way of the infraorbital nerve. Thus, the nerve was detached and then sutured under the microscope. Postoperatively, patients had almost full restoration of sensory nerve torpor within 5 to 6 months. We devised a 3-stage treatment to "change facial features" of patients with hypoplasia of the upper half of the face due to Treacher Collins syndrome. The treatment protocol provided a very effective way to treat deformities of the upper half of the face

  5. Pulmonary function in space

    Science.gov (United States)

    West, J. B.; Elliott, A. R.; Guy, H. J.; Prisk, G. K.

    1997-01-01

    The lung is exquisitely sensitive to gravity, and so it is of interest to know how its function is altered in the weightlessness of space. Studies on National Aeronautics and Space Administration (NASA) Spacelabs during the last 4 years have provided the first comprehensive data on the extensive changes in pulmonary function that occur in sustained microgravity. Measurements of pulmonary function were made on astronauts during space shuttle flights lasting 9 and 14 days and were compared with extensive ground-based measurements before and after the flights. Compared with preflight measurements, cardiac output increased by 18% during space flight, and stroke volume increased by 46%. Paradoxically, the increase in stroke volume occurred in the face of reductions in central venous pressure and circulating blood volume. Diffusing capacity increased by 28%, and the increase in the diffusing capacity of the alveolar membrane was unexpectedly large based on findings in normal gravity. The change in the alveolar membrane may reflect the effects of uniform filling of the pulmonary capillary bed. Distributions of blood flow and ventilation throughout the lung were more uniform in space, but some unevenness remained, indicating the importance of nongravitational factors. A surprising finding was that airway closing volume was approximately the same in microgravity and in normal gravity, emphasizing the importance of mechanical properties of the airways in determining whether they close. Residual volume was unexpectedly reduced by 18% in microgravity, possibly because of uniform alveolar expansion. The findings indicate that pulmonary function is greatly altered in microgravity, but none of the changes observed so far will apparently limit long-term space flight. In addition, the data help to clarify how gravity affects pulmonary function in the normal gravity environment on Earth.

  6. Bosentan as a bridge to pulmonary endarterectomy for chronic thromboembolic pulmonary hypertension

    NARCIS (Netherlands)

    H.J. Reesink; S. Surie; J.J. Kloek; H.L. Tan; R. Tepaske; P.F. Fedullo; P. Bresser

    2010-01-01

    OBJECTIVES: In proximal chronic thromboembolic pulmonary hypertension, pulmonary endarterectomy is the treatment of first choice. In general, medical treatment before pulmonary endarterectomy is not indicated. However, selected "high-risk" patients might benefit by optimization of pulmonary hemodyna

  7. Pulmonary arterial hypertension.

    Science.gov (United States)

    Montani, David; Günther, Sven; Dorfmüller, Peter; Perros, Frédéric; Girerd, Barbara; Garcia, Gilles; Jaïs, Xavier; Savale, Laurent; Artaud-Macari, Elise; Price, Laura C; Humbert, Marc; Simonneau, Gérald; Sitbon, Olivier

    2013-01-01

    Pulmonary arterial hypertension (PAH) is a chronic and progressive disease leading to right heart failure and ultimately death if untreated. The first classification of PH was proposed in 1973. In 2008, the fourth World Symposium on PH held in Dana Point (California, USA) revised previous classifications. Currently, PH is devided into five subgroups. Group 1 includes patients suffering from idiopathic or familial PAH with or without germline mutations. Patients with a diagnosis of PAH should systematically been screened regarding to underlying mutations of BMPR2 gene (bone morphogenetic protein receptor type 2) or more rarely of ACVRL1 (activine receptor-like kinase type 1), ENG (endogline) or Smad8 genes. Pulmonary veno occusive disease and pulmonary capillary hemagiomatosis are individualized and designated as clinical group 1'. Group 2 'Pulmonary hypertension due to left heart diseases' is divided into three sub-groups: systolic dysfonction, diastolic dysfonction and valvular dysfonction. Group 3 'Pulmonary hypertension due to respiratory diseases' includes a heterogenous subgroup of respiratory diseases like PH due to pulmonary fibrosis, COPD, lung emphysema or interstitial lung disease for exemple. Group 4 includes chronic thromboembolic pulmonary hypertension without any distinction of proximal or distal forms. Group 5 regroup PH patients with unclear multifactorial mechanisms. Invasive hemodynamic assessment with right heart catheterization is requested to confirm the definite diagnosis of PH showing a resting mean pulmonary artery pressure (mPAP) of ≥ 25 mmHg and a normal pulmonary capillary wedge pressure (PCWP) of ≤ 15 mmHg. The assessment of PCWP may allow the distinction between pre-capillary and post-capillary PH (PCWP > 15 mmHg). Echocardiography is an important tool in the management of patients with underlying suspicion of PH. The European Society of Cardiology and the European Respiratory Society (ESC-ERS) guidelines specify its role

  8. Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD: postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.

    Directory of Open Access Journals (Sweden)

    Louise Harewood

    Full Text Available BACKGROUND: Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal insulin dependent diabetes mellitus and male sex of the fetus. In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases. METHODOLOGY/PRINCIPAL FINDINGS: 45 unrelated fetuses, stillbirths or infants with lethal BRAHD were ascertained through a single regional paediatric pathology service (male:female 34:11 or 3.1:1. The previously reported phenotypic overlaps with VACTERL, caudal dysgenesis, hemifacial microsomia and Müllerian defects were confirmed. A new finding is that 16/45 (35.6%; m:f 13:3 or 4.3:1 BRAHD cases had one or more extrarenal malformations indicative of a disoder of laterality determination including; incomplete lobulation of right lung (seven cases, malrotation of the gut (seven cases and persistence of the left superior vena cava (five cases. One such case with multiple laterality defects and sirelomelia was found to have a de novo apparently balanced reciprocal translocation 46,XY,t(2;6(p22.3;q12. Translocation breakpoint mapping was performed by interphase fluorescent in-situ hybridization (FISH using nuclei extracted from archival tissue sections in both this case and an isolated bilateral renal agenesis case associated with a de novo 46,XY,t(1;2(q41;p25.3. Both t(2;6 breakpoints mapped to gene-free regions with no strong evidence of cis-regulatory potential. Ten genes localized within 500 kb of the t(1;2 breakpoints. Wholemount in-situ expression analyses of the mouse orthologs of these genes in embryonic mouse kidneys showed strong expression of Esrrg, encoding a nuclear steroid hormone receptor. Immunohistochemical analysis showed that Esrrg was restricted to proximal ductal tissue within the embryonic kidney. CONCLUSIONS/SIGNIFICANCE: The previously unreported

  9. 局灶性真皮发育不全一例%A case of focal dermal hypoplasia

    Institute of Scientific and Technical Information of China (English)

    吴侃; 张韡; 黄莹雪; 胡彬; 孙建方

    2014-01-01

    患者男,17岁,出生时即出现多发条纹状红色斑片和丘疹,红色斑片菲薄易破,愈后遗留色素减退斑片.右手第1、2指指甲发育不全.随年龄增长逐渐出现泛发线状或漩涡状色素沉着条纹,部分黄红色丘疹增大形成斑块.于儿童期始逐渐出现多发的乳头瘤样皮损,以口周为著.皮肤科检查:全身泛发线状或漩涡状的色素沉着斑片,以躯干为著,其间散在色素减退斑片与黄红色斑块.口周、下颌及右腘窝多发乳头瘤样皮损.皮损组织病理检查:表皮角化不全,真皮厚度显著变薄,真皮乳头层血管增多,皮下脂肪层上移.诊断:局灶性真皮发育不全.%A 17-year-old boy presented with multiple striated erythema and papules at birth.The erythema was fragile,easily damaged,and often healed leaving hypopigmented patches.The right first and second finger nails were hypoplastic.Generalized linear or whorled hyperpigmented patches gradually developed,and some yellow-pink papules enlarged into plaques with age.Multiple papillomatous papules appeared during childhood,which were mainly distributed in the perioral region.Skin examination revealed widespread linear or whorled hyperpigmented patches intermingled with scattered hypopigmented patches and yellow-pink plaques,which were mainly located in the trunk.Multiple papillomatous papules were observed in the perioral region,mandibular region,and right popliteal fossa.Skin biopsy showed epidermal parakeratosis,diminished dermal thickness,increased blood vessel density in dermal papillae,upward migration of subcutaneous fat layer known as "fat herniation".A diagnosis of focal dermal hypoplasia was made.

  10. When a pulmonary embolism is not a pulmonary embolism: a rare case of primary pulmonary leiomyosarcoma

    Directory of Open Access Journals (Sweden)

    Nargiz Muganlinskaya

    2015-12-01

    Full Text Available Arterial leiomyosarcomas account for up to 21% of vascular leiomyosarcomas, with 56% of arterial leiomyosarcomas occurring in the pulmonary artery. While isolated cases of primary pulmonary artery leiomyosarcoma document survival up to 36 months after treatment, these uncommon, aggressive tumors are highly lethal, with 1-year survival estimated at 20% from the onset of symptoms. We discuss a rare case of a pulmonary artery leiomyosarcoma that was originally diagnosed as a pulmonary embolism (PE. A 72-year-old Caucasian female was initially diagnosed with ‘saddle pulmonary embolism’ based on computerized tomographic angiography of the chest 2 months prior to admission and placed on anticoagulation. Dyspnea escalated, and serial computed tomography scans showed cardiomegaly with pulmonary emboli involving the right and left main pulmonary arteries with extension into the right and left upper and lower lobe branches. An echocardiogram on admission showed severe pulmonary hypertension with a pulmonary artery pressure of 82.9 mm Hg, and a severely enlarged right ventricle. Respiratory distress and multiorgan failure developed and, unfortunately, the patient expired. Autopsy showed a lobulated, yellow mass throughout the main pulmonary arteries measuring 13 cm in diameter. The mass extended into the parenchyma of the right upper lobe. On microscopy, the mass was consistent with a high-grade primary pulmonary artery leiomyosarcoma. Median survival of patients with primary pulmonary artery leiomyosarcoma without surgery is one and a half months, and mortality is usually due to right-sided heart failure. Pulmonary artery leiomyosarcoma is a rare but highly lethal disease commonly mistaken for PE. Thus, we recommend clinicians to suspect this malignancy when anticoagulation fails to relieve initial symptoms. In conclusion, early detection and suspicion of pulmonary artery leiomyosarcoma should be considered in patients refractory to anticoagulation

  11. Current practice for pulmonary hypertension

    Institute of Scientific and Technical Information of China (English)

    Toru Satoh

    2014-01-01

    Objective To investigate the current practice of pulmonary hypertension including current epidemiology,diagnosis and treatment.Data sources The review was based on data obtained from the published articles and guidelines.Study selection Articles with high level of evidence or current best evidence in each issue were selected to be reviewed.Results Overall prevalence of pulmonary hypertension was 0.3% to 6% with left heart disease occupying the most proportion,followed by pulmonary disease,pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.In diagnosis,a flow diagram of diagnosis of pulmonary hypertension,differential diagnosis of pulmonary hypertension and how to determine the severity of pulmonary hypertension are explained including recent development of magnetic resonance imaging and gene abnormality study on bone morphogenetic protein receptor Ⅱ.In treatment,newlydeveloped pulmonary vasodilators and the way to use them are shown to treat pulmonary hypertension.Conclusion Safer and more effective treatment algorithm and basic researches and clinical trials are warranted to be explored.

  12. Solitary pulmonary nodule by pulmonary hematoma under warfarin therapy

    International Nuclear Information System (INIS)

    Pulmonary hematoma is a rare cause of a pulmonary nodule. Mostly it results from penetrating or blunt chest injuries. The case of a patient is reported, whose chest X-ray showed a pulmonary nodule suspected of malignancy. This patient was maintained permanently on anticoagulants (warfarin derivates) after cardiac valve replacement with a prosthesis. A definite diagnosis could not be established by non-invasive methods. A needle biopsy of the lung was impracticable because of the location of the pulmonary lesion; an exploratory thoracotomy could not be carried out due to a general indication of nonoperability. Control examinations showed that the pulmonary nodule had vanished completely within four months. In consideration of the patient's clinical situation it can be concluded that the pulmonary lesion was caused by a hematoma of the lung. (orig.)

  13. Pneumococcal Vaccine and Patients with Pulmonary Diseases

    OpenAIRE

    Mirsaeidi, Mehdi; Ebrahimi, Golnaz; Allen, Mary Beth; Aliberti, Stefano

    2014-01-01

    Chronic pulmonary diseases describe chronic diseases that affect the airways and lung parenchyma. Examples of common chronic pulmonary diseases include asthma, bronchiectasis, chronic obstructive lung disease, lung fibrosis, sarcoidosis, pulmonary hypertension and cor pulmonale. Pulmonary infection is considered a significant cause of mortality in patients with chronic pulmonary diseases. Streptococcus pneumoniae is the leading isolated bacteria from adult patients with community-acquired pne...

  14. Pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: pathophysiology

    OpenAIRE

    Humbert, M.

    2010-01-01

    Pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) are two of the key subgroups of pulmonary hypertension. They are characterised by different risk factors. PAH can be associated with mutations in the gene encoding bone morphogenetic protein receptor type II (BMPR2), HIV infection, congenital heart disease, connective tissue disease (such as systemic sclerosis), and exposure to particular drugs and toxins including fenfluramine derivatives. In cont...

  15. Persistent diffuse pulmonary interstitial emphysema mimicking pulmonary emphysema

    OpenAIRE

    Demura, Y; Ishizaki, T; Nakanishi, M; Ameshima, S; Itoh, H.

    2009-01-01

    A 69-year-old male non-smoker with a history of atopic asthma presented with symptoms suggestive of chronic obstructive pulmonary disease and this appeared to be corroborated by lung function testing and a chest radiograph. However, a chest CT showed no evidence of pulmonary emphysema and instead demonstrated free air along the bronchovascular sheaths indicative of pulmonary interstistial emphysema, possibly caused by repeated prior exacerbations of asthma. His lung function tests and symptom...

  16. Congenital Medial Meniscus Hypoplasia.

    Science.gov (United States)

    Benedick, Alex; Shiraj, Sahar; Williams, James; Sundaram, Murali; Subhas, Naveen

    2016-05-01

    An 18-year-old man with no prior surgical history presented with left knee pain after sustaining a basketball injury and was diagnosed with transient patellar dislocation. Magnetic resonance imaging was ordered to further assess the extent of injury. PMID:27064776

  17. Subpleural pulmonary hyalinizing granuloma presenting as a solitary pulmonary nodule.

    Science.gov (United States)

    Na, Kook Joo; Song, Sang Yun; Kim, Jo Heon; Kim, Young Chul

    2007-08-01

    We introduce a case of pulmonary hyalinizing granuloma presented as a solitary pulmonary nodule located subpleurally. The patient was a 57-year-old man who had abnormal chest roentgenograms showing a solitary pulmonary nodule in the right lower lung field. The nodule was resected for definitive diagnosis and histopathologically proved to be pulmonary hyalinizing granuloma. In previously reported cases, most patients had ill-defined margins and usually bilateral, multiple lesions radiographically. In our case, the subpleural location is an uncommon location of this rare entity. PMID:17762348

  18. Molecular Mechanisms of Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension

    Directory of Open Access Journals (Sweden)

    Jane A. Leopold

    2016-05-01

    Full Text Available Pulmonary arterial hypertension (PAH is a devastating disease that is precipitated by hypertrophic pulmonary vascular remodeling of distal arterioles to increase pulmonary artery pressure and pulmonary vascular resistance in the absence of left heart, lung parenchymal, or thromboembolic disease. Despite available medical therapy, pulmonary artery remodeling and its attendant hemodynamic consequences result in right ventricular dysfunction, failure, and early death. To limit morbidity and mortality, attention has focused on identifying the cellular and molecular mechanisms underlying aberrant pulmonary artery remodeling to identify pathways for intervention. While there is a well-recognized heritable genetic component to PAH, there is also evidence of other genetic perturbations, including pulmonary vascular cell DNA damage, activation of the DNA damage response, and variations in microRNA expression. These findings likely contribute, in part, to dysregulation of proliferation and apoptosis signaling pathways akin to what is observed in cancer; changes in cellular metabolism, metabolic flux, and mitochondrial function; and endothelial-to-mesenchymal transition as key signaling pathways that promote pulmonary vascular remodeling. This review will highlight recent advances in the field with an emphasis on the aforementioned molecular mechanisms as contributors to the pulmonary vascular disease pathophenotype.

  19. Pulmonary sarcoidosis: management.

    Directory of Open Access Journals (Sweden)

    Sharma O

    2002-04-01

    Full Text Available During the last two decades many advances have been made in the field of sarcoidosis. The disease is now recognised as a multisystem disorder occurring in patients with a genetic predisposition and an exposure to yet unknown transmissible environmental agent/s. The diagnosis is based on a compatible clinical and/or radiological picture, histological evidence of non-caseating granuloma and exclusion of other diseases capable of producing a similar clinical or histological picture. Treatment primarily consists of administration of corticosteroids, although there are valuable alternative drugs. Treatment should be considered in symptomatic patients with evidence of radiologic or lung function deterioration. The patients with extra-pulmonary involvement particularly with ocular, myocardial, and neuro-sarcoidosis almost always need treatment. For asymptomatic pulmonary sarcoidosis patients no therapy is needed.

  20. Pulmonary interstitial glycogenosis

    Energy Technology Data Exchange (ETDEWEB)

    Lanfranchi, Michael [Creighton University Medical School, Children' s Hospital and Medical Center, Omaha, NE (United States); Allbery, Sandra M.; Wheelock, Lisa [Children' s Hospital and Medical Center, Department of Radiology, Omaha, NE (United States); Perry, Deborah [Children' s Hospital and Medical Center, Department of Pathology, Omaha, NE (United States)

    2010-03-15

    Although bronchopulmonary dysplasia (BPD) is a common cause of interstitial lung disease in chronically intubated premature neonates, other interstitial lung disease in nonintubated infants is rare. We present a case of pulmonary interstitial glycogenosis that developed in a nonintubated, 31-week gestation infant in whom infectious etiologies had been excluded. The infant was well initially and then developed respiratory distress at 18 days of life. Radiographs at first day of life were normal, but CT and radiographic findings at 18 days of life showed severe interstitial lung disease, mimicking BPD. Lung biopsy showed pulmonary interstitial glycogenosis. This entity is not well described in the pediatric radiology literature and is important to consider, as the condition is responsive to a course of corticosteroids. (orig.)

  1. [Pulmonary Langerhans cell histiocytosis].

    Science.gov (United States)

    Popper, H H

    2015-09-01

    Pulmonary Langerhans cell histiocytosis is regarded as a reactive proliferation of the dendritic Langerhans cell population stimulated by chronic tobacco-derived plant proteins due to incomplete combustion but can also occur in childhood as a tumor-like systemic disease. Currently, both these forms cannot be morphologically distinguished. In the lungs a nodular proliferation of Langerhans cells occurs in the bronchial mucosa and also peripherally in the alveolar septa with an accompanying infiltration by eosinophilic granulocytes and destruction of the bronchial wall. Langerhans cells can be selectively detected with antibodies against CD1a and langerin. In the reactive isolated pulmonary form, abstinence from tobacco smoking in most patients leads to regression of infiltration and improvement of symptoms. In high-resolution computed tomography (HRCT) the small star-like scars can still be detected even after complete cessation of tobacco smoking. PMID:26289803

  2. Pulmonary alveolar proteinosis

    International Nuclear Information System (INIS)

    Since the original description of pulmonary alveolar proteinosis (PAP) as bilaterally symmetric, confluent, perihilar infiltrates, no large series evaluating the relative frequency of radiographic findings has been published. The authors reviewed 53 histologically proved cases and found a predominantly confluent pattern in 77.4%; of these, 61% had a nodular component. A predominantly nodular pattern was seen in 22.6% often with some coalescence or reticular shadows. Distribution was perhilar 56.6%, diffuse in 26.4%, basilar in 26.4%, and asymmetric in 35.8%. The classic pattern was seen in 18.9%. The authors conclude that the spectrum of patterns in pulmonary alveolar proteinosis is wider than generally appreciated

  3. Obstructive pulmonary disease

    International Nuclear Information System (INIS)

    Although /sup 133/xenon ventilation studies and aerosol inhalation images have been shown to be more sensitive than other measurements of pulmonary function in detecting early airway disease, they fall short as ideal screening tests. In addition they do not distinguish between the different diseases of air flow obstruction. The diagnosis of the conditions discussed in this paper does not require studies of regional lung function. It is doubtful if further refinements in instrumentation or the introduction of other radioisotopes would really help in this matter. Chronic bronchitis, emphysema, and bronchial asthma are the major obstructive pulmonary disease. Cystic fibrosis and bronchiectasis, which are less common, are also accompanied by airway obstruction. Local obstruction of a bronchus may also occur as a result of a tumor or foreign body or a mucous plug

  4. Chronic necrotizing pulmonary aspergillosis

    Directory of Open Access Journals (Sweden)

    Lovrenski Aleksandra

    2011-01-01

    Full Text Available Introduction. Chronic necrotizing pulmonary aspergillosis (CNPA is a cavitary, infectious process of lung parenchyma with slow progressive course. Vascular invasion and dissemination to other organs are unusual. Case report. We presented a 25-year old man with bilineal acute leukaemia who developed pulmonary and systemic symptoms. Chest CT showed nodular consolidations and cavitary lesions in both lungs. Bronchial biopsy revealed necrotic hyphae but it was negative for Aspergillus by culture. Serum was positive for antibodies to Aspergillus, but it was negative for antigens. A thoracoscopic lung biopsy of the upper left lobe revealed necrosis of lung tissue, with acute and chronic inflammation of the cavity wall and the presence of hyphae consistent with Aspergillus species. Conclusion. Although confirmation of the diagnosis is difficult, a combination of characteristic clinical, radiological and histological findings and either serological results positive for Aspergillus or the isolation of Aspergillus from respiratory samples are highly indicative of CNPA.

  5. Pulmonary remodeling in asthma

    OpenAIRE

    Lieberman, Phil

    2010-01-01

    The inflammatory and immunologic processes responsible for asthma can produce permanently fixed obstructive lung disease unresponsive to medical therapy. This can be manifested clinically by the failure of a childhood asthmatic to reach full expected lung capacity at adulthood and by an accelerated decline in pulmonary capacity in adults. Recent studies have furthered our insight into the pathologic processes underlying these changes and the potential effects of therapy to prevent them.

  6. Chronic obstructive pulmonary disease

    OpenAIRE

    NR Anthonisen

    2007-01-01

    The global prevalence of physiologically defined chronic obstructive pulmonary disease (COPD) in adults aged >40 yr is approximately 9-10 per cent. Recently, the Indian Study on Epidemiology of Asthma, Respiratory Symptoms and Chronic Bronchitis in Adults had shown that the overall prevalence of chronic bronchitis in adults >35 yr is 3.49 per cent. The development of COPD is multifactorial and the risk factors of COPD include genetic and environmental factors. Pathological changes in COPD are...

  7. Diagnostics for pulmonary tuberculosis

    OpenAIRE

    Cudahy, Patrick; Shenoi, Sheela

    2016-01-01

    Tuberculosis (TB) remains a leading cause of human suffering and mortality despite decades of effective treatment being available. Accurate and timely diagnosis remains an unmet goal. The HIV epidemic has also led to new challenges in the diagnosis of TB. Several new developments in TB diagnostics have the potential to positively influence the global campaign against TB. We aim to review the performance of both established as well as new diagnostics for pulmonary TB in adults, and discuss the...

  8. Pulmonary langerhans cell histiocytosis

    OpenAIRE

    Suri Harpreet S; Yi Eunhee S; Nowakowski Gregorz S; Vassallo Robert

    2012-01-01

    Abstract Pulmonary Langerhans Cell Histiocytosis (PLCH) is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette smokers. The pathologic hallmark of PLCH is the accumulation of Langerhans and other inflammatory cells in small airways, resulting in the formation of nodular inflammatory lesions. While the overwhelming majority of patients are smokers, mechanisms by which smoking induces this disease are not known, but likely involve a combination of events r...

  9. Pulmonary alveolar proteinosis

    OpenAIRE

    Patel, Sandeep M; Sekiguchi, Hiroshi; Jordan P Reynolds; Krowka, Michael J.

    2012-01-01

    Pulmonary alveolar proteinosis (PAP) is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. There are three forms of PAP: congenital, acquired and idiopathic; of which the latter two are predominant in the adult population. Previous case studies have found that the acquired form can be secondary to various autoimmune, infectious, malignant and environmental etiologies. Recent advances in t...

  10. Pulmonary Alveolar Proteinosis

    OpenAIRE

    Patel, Sandeep M; Hiroshi Sekiguchi; Jordan P Reynolds; Krowka, Michael J.

    2012-01-01

    Pulmonary alveolar proteinosis (PAP) is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. There are three forms of PAP: congenital, acquired and idiopathic; of which the latter two are predominant in the adult population. Previous case studies have found that the acquired form can be secondary to various autoimmune, infectious, malignant and environmental etiologies. Recent advances in t...

  11. Primary pulmonary cryptococcosis

    OpenAIRE

    Asadi Gharabaghi, Mehrnaz; Allameh, Seyyed Farshad

    2014-01-01

    Here, we report a case of primary cryptococcal pneumonia in a 25-year-old woman who presented with several weeks’ history of cough, dyspnoea and night sweating. These symptoms started in the third trimester of her pregnancy. She was being treated for infertility and got pregnant with in vitro fertilisation. On chest imaging, there were bilateral air space consolidation and cavitary lesions. Fungal pulmonary infection was diagnosed after surgical lung biopsy. She received fluconazole 400 mg pe...

  12. Transcatheter Pulmonary Valve Replacement

    OpenAIRE

    Ghawi, Hani; Kenny, Damien; Hijazi, Ziyad M.

    2012-01-01

    Transcatheter pulmonary valve replacement (tPVR) has evolved into a viable alternative to surgical conduit or bioprosthetic valve replacement. This procedure has paved the way for a more advanced approach to congenital and structural interventional cardiology. Although many successes have been noted, there are still a number of challenges with this procedure, including large delivery systems, the need for a conduit or a bioprosthetic valve as a landing zone for the valve, optimal timing of th...

  13. Isolated Pulmonary Valve Endocarditis

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Hatamizadeh

    2009-06-01

    Full Text Available Infective endocarditis is one of the most severe complications of parenteral drug abuse. The outstanding clinical feature of infective endocarditis in intravenous drug abusers is the high incidence of right-sided valve infection, and the tricuspid valve is involved in 60% to 70% of the cases. We herein report a case of isolated pulmonic valve infective endocarditis with a native pulmonary valve.

  14. Pulmonary Artery Denervation Reduces Pulmonary Artery Pressure and Induces Histological Changes in an Acute Porcine Model of Pulmonary Hypertension

    OpenAIRE

    Rothman, A.M.K.; Arnold, N D; Chang, W.; Watson, O.; Swift, A J; Condliffe, R; Elliot, C A; Kiely, D. G.; Suvarna, S K; Gunn, J.; Lawrie, A.

    2015-01-01

    Background— Pulmonary arterial hypertension is a devastating disease with high morbidity and mortality and limited treatment options. Recent studies have shown that pulmonary artery denervation improves pulmonary hemodynamics in an experimental model and in an early clinical trial. We aimed to evaluate the nerve distribution around the pulmonary artery, to determine the effect of radiofrequency pulmonary artery denervation on acute pulmonary hypertension induced by vasoconstriction, and to de...

  15. Pulmonary thromboembolism diagnosis algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Kasai, Takeshi; Eto, Jun; Hayano, Daisuke; Ohashi, Masaki; Yoneda, Takahiro; Oyama, Hisaya; Inaba, Akira [Kameda General Hospital, Kamogawa, Chiba (Japan). Trauma and Emergency Care Center

    2002-01-01

    Our algorithm for diagnosing pulmonary thromboembolism combines ventilation/perfusion scanning with clinical criteria. Our perfusion scanning criterion states that high probability defines 2 segmental perfusion defects without corresponding radiographic abnormality and indeterminate probability defines less than 2 segmental perfusion defects (low probability: less than one segmental perfusion defect; intermediate: perfusion defects between high and low probability). The clinical criterion is divided into 7 items related to symptoms and signs suggestive of pulmonary thromboembolism. More than 4 items are defined as a highly suspicious clinical manifestation (HSCM), and less than 4 are considered a low suspicious clinical manifestation (LSCM). In 31 cases of high probability, 18 of HSCM did not include pulmonary angiograhy (PAG), and 13 of LSCM included PAG (positive: 11; negative: 2). In 12 cases of indeterminate probability, 7 of LSCM were observed without PAG and 5 of HSCM with PAG (positive: 4; negative: 1). PAG performance thus decreased to 41.9%. The positive prediction of high probability is 93.5%, which is very high, compared to indeterminate probability at 33.3%. (author)

  16. Pulmonary alveolar microlithiasis

    International Nuclear Information System (INIS)

    Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the diffuse and bilateral presence of calcium phosphate microlite in the alveolar spaces. The progression of this potentially lethal disease is show and most of the patients remain asymptomatic during years or decades, resulting in a show deterioration of the pulmonary function. The typical finding of the sand storm in the chest X-ray is characteristic of this entity. Mutations in the SLC34A2 gene that does the coding for the type II co-transporter of sodium phosphate were identified as responsible for this disease. Of the almost 600 cases, only 6 have been reported in Colombia. We are presenting a case of pulmonary alveolar microlite in a 27 year old man, with progressive respiratory distress whose diagnosis was made by the X-ray findings and confirmed by trans bronchial biopsy. In the 2 years follow-up, shows evolution towards deterioration of his respiratory function making him a candidate for lung transplantation.

  17. Ablative Approaches for Pulmonary Metastases.

    Science.gov (United States)

    Boyer, Matthew J; Ricardi, Umberto; Ball, David; Salama, Joseph K

    2016-02-01

    Pulmonary metastases are common in patients with cancer for which surgery is considered a standard approach in appropriately selected patients. A number of patients are not candidates for surgery due to a medical comorbidities or the extent of surgery required. For these patients, noninvasive or minimally invasive approaches to ablate pulmonary metastases are potential treatment strategies. This article summarizes the rationale and outcomes for non-surgical treatment approaches, including radiotherapy, radiofrequency and microwave ablation, for pulmonary metastases.

  18. Radiologic diagnosis of pulmonary dirofilariasis

    Energy Technology Data Exchange (ETDEWEB)

    Akimoto, Manabu; Takashima, Tsutomu; Kamimura, Ryoichi; Itoh, Hiroshi; Suzuki, Masayuki; Arakawa, Fumitaka; Watanabe, You; Miyata, Samon.

    1988-01-01

    Radiologic evaluation of pulmonary dirofilariasis was made in five pathologically verified cases. In all cases, the lesion was shown to be well-defined, non-calcified solitary pulmonary nodule less than 2 cm in diameter, with smooth margin in subpleural location. The pulmonary vessels toward the tumor were well shown on tomogram and CT without convergence. These findings are fairly characteristic of the disease, but it is still difficult to make a definitive differentiation from the malignant lesion by radiologic study alone.

  19. Genetics Home Reference: pulmonary arterial hypertension

    Science.gov (United States)

    ... Home Health Conditions pulmonary arterial hypertension pulmonary arterial hypertension Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high ...

  20. Sickle Cell Disease and Pulmonary Hypertension

    Science.gov (United States)

    Sickle Cell Disease Pulmonary & PH Hypertension Did you know that if you have Sickle Cell Disease you are at risk for Pulmonary ... or PH, is a complex and often misunderstood disease. Pulmonary hypertension means high blood pressure that is located ...

  1. Multimodality imaging of pulmonary infarction

    Energy Technology Data Exchange (ETDEWEB)

    Bray, T.J.P., E-mail: timothyjpbray@gmail.com [Department of Radiology, Papworth Hospital NHS Foundation Trust, Ermine Street, Papworth Everard, Cambridge CB23 3RE (United Kingdom); Mortensen, K.H., E-mail: mortensen@doctors.org.uk [Department of Radiology, Papworth Hospital NHS Foundation Trust, Ermine Street, Papworth Everard, Cambridge CB23 3RE (United Kingdom); University Department of Radiology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Box 318, Cambridge CB2 0QQ (United Kingdom); Gopalan, D., E-mail: deepa.gopalan@btopenworld.com [Department of Radiology, Papworth Hospital NHS Foundation Trust, Ermine Street, Papworth Everard, Cambridge CB23 3RE (United Kingdom)

    2014-12-15

    Highlights: • A plethora of pulmonary and systemic disorders, often associated with grave outcomes, may cause pulmonary infarction. • A stereotypical infarct is a peripheral wedge shaped pleurally based opacity but imaging findings can be highly variable. • Multimodality imaging is key to diagnosing the presence, aetiology and complications of pulmonary infarction. • Multimodality imaging of pulmonary infarction together with any ancillary features often guide to early targeted treatment. • CT remains the principal imaging modality with MRI increasingly used alongside nuclear medicine studies and ultrasound. - Abstract: The impact of absent pulmonary arterial and venous flow on the pulmonary parenchyma depends on a host of factors. These include location of the occlusive insult, the speed at which the occlusion develops and the ability of the normal dual arterial supply to compensate through increased bronchial arterial flow. Pulmonary infarction occurs when oxygenation is cut off secondary to sudden occlusion with lack of recruitment of the dual supply arterial system. Thromboembolic disease is the commonest cause of such an insult but a whole range of disease processes intrinsic and extrinsic to the pulmonary arterial and venous lumen may also result in infarcts. Recognition of the presence of infarction can be challenging as imaging manifestations often differ from the classically described wedge shaped defect and a number of weighty causes need consideration. This review highlights aetiologies and imaging appearances of pulmonary infarction, utilising cases to illustrate the essential role of a multimodality imaging approach in order to arrive at the appropriate diagnosis.

  2. Multimodality imaging of pulmonary infarction

    International Nuclear Information System (INIS)

    Highlights: • A plethora of pulmonary and systemic disorders, often associated with grave outcomes, may cause pulmonary infarction. • A stereotypical infarct is a peripheral wedge shaped pleurally based opacity but imaging findings can be highly variable. • Multimodality imaging is key to diagnosing the presence, aetiology and complications of pulmonary infarction. • Multimodality imaging of pulmonary infarction together with any ancillary features often guide to early targeted treatment. • CT remains the principal imaging modality with MRI increasingly used alongside nuclear medicine studies and ultrasound. - Abstract: The impact of absent pulmonary arterial and venous flow on the pulmonary parenchyma depends on a host of factors. These include location of the occlusive insult, the speed at which the occlusion develops and the ability of the normal dual arterial supply to compensate through increased bronchial arterial flow. Pulmonary infarction occurs when oxygenation is cut off secondary to sudden occlusion with lack of recruitment of the dual supply arterial system. Thromboembolic disease is the commonest cause of such an insult but a whole range of disease processes intrinsic and extrinsic to the pulmonary arterial and venous lumen may also result in infarcts. Recognition of the presence of infarction can be challenging as imaging manifestations often differ from the classically described wedge shaped defect and a number of weighty causes need consideration. This review highlights aetiologies and imaging appearances of pulmonary infarction, utilising cases to illustrate the essential role of a multimodality imaging approach in order to arrive at the appropriate diagnosis

  3. Invasive hemodynamic assessment of pulmonary hypertension

    OpenAIRE

    Pagnamenta, Alberto

    2015-01-01

    The diagnosis of pulmonary hypertension requires an invasive confirmation of an elevated mean pulmonary artery pressure during a right heart catheterization. The present thesis reviews the invasive hemodynamic approaches to assess the functional state of the pulmonary circulation and its impact on right ventricular function in pulmonary vascular diseases. Pulmonary vascular resistance is better characterized by multi-point pressure/flow measurements. The occlusion analysis of the pulmonary ar...

  4. Detailed statistical analysis plan for the pulmonary protection trial

    DEFF Research Database (Denmark)

    Buggeskov, Katrine B; Jakobsen, Janus C; Secher, Niels H;

    2014-01-01

    BACKGROUND: Pulmonary dysfunction complicates cardiac surgery that includes cardiopulmonary bypass. The pulmonary protection trial evaluates effect of pulmonary perfusion on pulmonary function in patients suffering from chronic obstructive pulmonary disease. This paper presents the statistical plan...

  5. Genetics Home Reference: pulmonary alveolar microlithiasis

    Science.gov (United States)

    ... Genetics Home Health Conditions pulmonary alveolar microlithiasis pulmonary alveolar microlithiasis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description ...

  6. Fatal dissection of the pulmonary artery in pulmonary arterial hypertension

    Directory of Open Access Journals (Sweden)

    B. Degano

    2009-09-01

    Full Text Available A 41-yr-old patient with chronic stable idiopathic pulmonary arterial hypertension (PAH presented with sudden chest pain and unusual dyspnoea during physical exertion. The patient had been diagnosed with PAH at the age of 12 yrs and was in New York Heart Association functional class I/II. The patient was being treated with an anticoagulant regimen, low-dose diuretics and continuous intravenous epoprostenol therapy. A computed tomography scan showed ancient massive thrombi in dilated central pulmonary arteries, which were not haemodynamically significant (perfusion lung scans did not demonstrate segmental or larger defects, and extensive dissection of the right pulmonary artery starting from the intermediate branch. Due to the extensiveness of the dissection, the patient was immediately considered for heart–lung transplantation, but died 72 h after the onset of symptoms. Permission for post mortem examination was denied. Pulmonary artery dissection should be suspected in PAH patients presenting with chest pain and worsening dyspnoea. In the current case, the factors possibly associated with increased risk for dissection may include dilatation of the pulmonary artery, local inflammation favoured by in situ thrombosis, and acute increase of pulmonary pressure secondary to physical exertion. Extensive pulmonary artery dissection is a life-threatening complication of PAH, and urgent heart/lung transplantation might be the treatment of choice in eligible patients. In addition, better identification of the risk factors for pulmonary artery dissection may help in considering transplantation for selected patients at risk.

  7. Endothelial HIF signaling regulates pulmonary fibrosis-associated pulmonary hypertension.

    Science.gov (United States)

    Bryant, Andrew J; Carrick, Ryan P; McConaha, Melinda E; Jones, Brittany R; Shay, Sheila D; Moore, Christy S; Blackwell, Thomas R; Gladson, Santhi; Penner, Niki L; Burman, Ankita; Tanjore, Harikrishna; Hemnes, Anna R; Karwandyar, Ayub K; Polosukhin, Vasiliy V; Talati, Megha A; Dong, Hui-Jia; Gleaves, Linda A; Carrier, Erica J; Gaskill, Christa; Scott, Edward W; Majka, Susan M; Fessel, Joshua P; Haase, Volker H; West, James D; Blackwell, Timothy S; Lawson, William E

    2016-02-01

    Pulmonary hypertension (PH) complicating chronic parenchymal lung disease, such as idiopathic pulmonary fibrosis, results in significant morbidity and mortality. Since the hypoxia-inducible factor (HIF) signaling pathway is important for development of pulmonary hypertension in chronic hypoxia, we investigated whether HIF signaling in vascular endothelium regulates development of PH related to pulmonary fibrosis. We generated a transgenic model in which HIF is deleted within vascular endothelial cells and then exposed these mice to chronic intraperitoneal bleomycin to induce PH associated with lung fibrosis. Although no differences in the degree of fibrotic remodeling were observed, we found that endothelial HIF-deficient mice were protected against development of PH, including right ventricle and pulmonary vessel remodeling. Similarly, endothelial HIF-deficient mice were protected from PH after a 4-wk exposure to normobaric hypoxia. In vitro studies of pulmonary vascular endothelial cells isolated from the HIF-targeted mice and controls revealed that endothelial HIF signaling increases endothelial cell expression of connective tissue growth factor, enhances vascular permeability, and promotes pulmonary artery smooth muscle cell proliferation and wound healing ability, all of which have the potential to impact the development of PH in vivo. Taken together, these studies demonstrate that vascular endothelial cell HIF signaling is necessary for development of hypoxia and pulmonary fibrosis associated PH. As such, HIF and HIF-regulated targets represent a therapeutic target in these conditions.

  8. Pulmonary arterial wall distensibility assessed by intravascular ultrasound in children with congenital heart disease : an indicator for pulmonary vascular disease?

    NARCIS (Netherlands)

    Berger, Rolf M F; Cromme-Dijkhuis, Adri H; Hop, Wim C J; Kruit, Marco N; Hess, John; Berger, Rudolphus

    2002-01-01

    BACKGROUND: Both pulmonary hypertension and pulmonary overflow are associated with functional and structural changes of the pulmonary arterial wall. Current techniques to evaluate the pulmonary vasculature neglect the pulsatile nature of pulmonary flow. STUDY OBJECTIVES: To determine whether the dyn

  9. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Directory of Open Access Journals (Sweden)

    Burglen Lydie

    2012-03-01

    Full Text Available Abstract Background Pontocerebellar hypoplasia (PCH is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH. Methods Fourteen patients (12 females and two males; aged 16 months-14 years presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14. Ten patients (8 girls and 2 boys had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy, deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that

  10. Pulmonary arteriovenous malformations.

    Science.gov (United States)

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  11. Pulmonary function in microgravity

    Science.gov (United States)

    Guy, H. J.; Prisk, G. K.; West, J. B.

    1992-01-01

    We report the successful collection of a large quantity of human resting pulmonary function data on the SLS-1 mission. Preliminary analysis suggests that cardiac stroke volumes are high on orbit, and that an adaptive reduction takes at least several days, and in fact may still be in progress after 9 days on orbit. It also suggests that pulmonary capillary blood volumes are high, and remain high on orbit, but that the pulmonary interstitium is not significantly impacted. The data further suggest that the known large gravitational gradients of lung function have only a modest influence on single breath tests such as the SBN washout. They account for only approximately 25% of the phase III slope of nitrogen, on vital capacity SBN washouts. These gradients are only a moderate source of the cardiogenic oscillations seen in argon (bolus gas) and nitrogen (resident gas), on such tests. They may have a greater role in generating the normal CO2 oscillations, as here the phase relationship to argon and nitrogen reverses in microgravity, at least at mid exhalation in those subjects studied to date. Microgravity may become a useful tool in establishing the nature of the non-gravitational mechanisms that can now be seen to play such a large part in the generation of intra-breath gradients and oscillations of expired gas concentration. Analysis of microgravity multibreath nitrogen washouts, single breath washouts from more physiological pre-inspiratory volumes, both using our existing SLS-1 data, and data from the upcoming D-2 and SLS-2 missions, should be very fruitful in this regard.(ABSTRACT TRUNCATED AT 250 WORDS).

  12. Imaging of pulmonary tuberculosis

    International Nuclear Information System (INIS)

    Tuberculosis, more than any other infectious disease, has always been a challenge, since it has been responsible for a great amount of morbidity and mortality in humans. After a steady decline in the number of new cases during the twentieth century, due to improved social and environmental conditions, early diagnosis, and the development of antituberculous medication, a stagnation and even an increase in the number of new cases was noted in the mid-1980s. The epidemiological alteration is multifactorial: global increase in developing countries; minority groups (HIV and other immunocompromised patients); and elderly patients due to an altered immune status. Other factors that may be responsible are a delayed diagnosis, especially in elderly patients, incomplete or inadequate therapy, and the emergence of multidrug-resistant tuberculosis. The course of the disease and its corresponding clinicoradiological pattern depends on the interaction between the organism and the host response. Classically, pulmonary tuberculosis has been classified in primary tuberculosis, which occurred previously in children, and postprimary tuberculosis, occurring in adult patients. In industrialized countries, however, there seems to be a shift of primary tuberculosis towards adults. Furthermore, due to an altered immunological response in certain groups, such as immunocompromised and elderly patients, an atypical radioclinical pattern may occur. The changing landscape, in which tuberculosis occurs, as well as the global resurgence, and the changed spectrum of the clinical and radiological presentation, justify a renewed interest of radiologists for the imaging features of pulmonary tuberculosis. This article deals with the usual imaging features of pulmonary tuberculosis as well as the atypical patterns encountered in immunodepressed and elderly patients. (orig.)

  13. Chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    V K Vijayan

    2013-01-01

    Full Text Available The global prevalence of physiologically defined chronic obstructive pulmonary disease (COPD in adults aged >40 yr is approximately 9-10 per cent. Recently, the Indian Study on Epidemiology of Asthma, Respiratory Symptoms and Chronic Bronchitis in Adults had shown that the overall prevalence of chronic bronchitis in adults >35 yr is 3.49 per cent. The development of COPD is multifactorial and the risk factors of COPD include genetic and environmental factors. Pathological changes in COPD are observed in central airways, small airways and alveolar space. The proposed pathogenesis of COPD includes proteinase-antiproteinase hypothesis, immunological mechanisms, oxidant-antioxidant balance, systemic inflammation, apoptosis and ineffective repair. Airflow limitation in COPD is defined as a postbronchodilator FEV1 (forced expiratory volume in 1 sec to FVC (forced vital capacity ratio <0.70. COPD is characterized by an accelerated decline in FEV1. Co morbidities associated with COPD are cardiovascular disorders (coronary artery disease and chronic heart failure, hypertension, metabolic diseases (diabetes mellitus, metabolic syndrome and obesity, bone disease (osteoporosis and osteopenia, stroke, lung cancer, cachexia, skeletal muscle weakness, anaemia, depression and cognitive decline. The assessment of COPD is required to determine the severity of the disease, its impact on the health status and the risk of future events (e.g., exacerbations, hospital admissions or death and this is essential to guide therapy. COPD is treated with inhaled bronchodilators, inhaled corticosteroids, oral theophylline and oral phosphodiesterase-4 inhibitor. Non pharmacological treatment of COPD includes smoking cessation, pulmonary rehabilitation and nutritional support. Lung volume reduction surgery and lung transplantation are advised in selected severe patients. Global strategy for the diagnosis, management and prevention of Chronic Obstructive Pulmonary Disease

  14. Thrombolytic therapy in pulmonary embolism.

    LENUS (Irish Health Repository)

    Nagi, D

    2010-01-01

    Massive pulmonary embolism carries a high mortality. Potential treatment includes anticoagulation, thrombolytic therapy and embolectomy. We report a case of deep vein thrombosis leading to progressive massive pulmonary embolism despite appropriate anticoagulation, where thrombolysis with IVC filter placement resulted in a successful outcome.

  15. THROMBOENDARTERECTOMY FOR CHRONIC PULMONARY THROMBOEMBOLISM

    Institute of Scientific and Technical Information of China (English)

    Hua Ren; Pi-xiong Su; Chao-ji Zhang; Song Gu; Heng Zhang; Chen Wang

    2005-01-01

    Objective To evaluate the improving reliability and safety of thromboendarterectomy and perioperative management for chronic pulmonary thromboembolism. Methods The clinical data of 12 cases with chronic pulmonary thromboembolism, who underwent thromboendarterec tomy assisted by low flow or circulation arrest with deep hypothermia, were reviewed retrospectively. Results Pulmonary artery pressure decreased 20 to 40 mmHg immediately after surgical procedures in 9 cases. The postoperative pulmonary edema at various degrees happened in 12 cases, among them, 1 died of severe lung infection and pulmonary re-embolism at 19 days postoperation. Computed tomography pulmonary angiography and angiography of 11 cases indicated that the original obstruction of pulmonary artery disappeared. During the follow-up period of 2 months to 5 years, the clinical symptoms and activity was improved. Conclusion Thromboendarterectomy is an effective treatment for chronic pulmonary thromboembolism. The outcome of the surgical procedure needs to be further investigated and followed up regularly according to an evaluative system, because it might be influenced by multiple factors.

  16. Drug-induced pulmonary disease

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000104.htm Drug-induced pulmonary disease To use the sharing features on this page, ... take longer to improve. Some drug-induced lung diseases, such as pulmonary fibrosis, may never go away. Possible Complications Complications ...

  17. Primary pulmonary cryptococcosis.

    Science.gov (United States)

    Asadi Gharabaghi, Mehrnaz; Allameh, Seyyed Farshad

    2014-01-01

    Here, we report a case of primary cryptococcal pneumonia in a 25-year-old woman who presented with several weeks' history of cough, dyspnoea and night sweating. These symptoms started in the third trimester of her pregnancy. She was being treated for infertility and got pregnant with in vitro fertilisation. On chest imaging, there were bilateral air space consolidation and cavitary lesions. Fungal pulmonary infection was diagnosed after surgical lung biopsy. She received fluconazole 400 mg per day orally for 6 months and recovered completely. PMID:24692384

  18. [Pulmonary manifestations in rheumatoid arthritis].

    Science.gov (United States)

    Morawska, Justyna; Domysławska, Izabela; Bagrowska, Magdalena; Sierakowski, Stanislaw

    2015-01-01

    Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by destructive cartilages, bones and other structures formed joints. RA belongs to connective tissue diseases represented by systemic nature, internal illness, extra-articular features and rapidly progress of atherosceirosis. The extra-articular complications cause the reduction of patient longevity. The frequency of symptoms in patient with RA and respiratory disorders occur in 10-20% of cases. Pulmonary complications are the second most common cause of premature of patient deaths. Respiratory disorders associated with RA are devided into 3 groups: infection, lung disease caused by drugs and pulmonary manifestation connected by RA. These last affect interstitial tissue, bronchioli, pulmonary vessels, pleura, also are presented by pulmonary rheumatoid nodules and pulmonary hypertension.

  19. Microarray analysis in pulmonary hypertension.

    Science.gov (United States)

    Hoffmann, Julia; Wilhelm, Jochen; Olschewski, Andrea; Kwapiszewska, Grazyna

    2016-07-01

    Microarrays are a powerful and effective tool that allows the detection of genome-wide gene expression differences between controls and disease conditions. They have been broadly applied to investigate the pathobiology of diverse forms of pulmonary hypertension, namely group 1, including patients with idiopathic pulmonary arterial hypertension, and group 3, including pulmonary hypertension associated with chronic lung diseases such as chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis. To date, numerous human microarray studies have been conducted to analyse global (lung homogenate samples), compartment-specific (laser capture microdissection), cell type-specific (isolated primary cells) and circulating cell (peripheral blood) expression profiles. Combined, they provide important information on development, progression and the end-stage disease. In the future, system biology approaches, expression of noncoding RNAs that regulate coding RNAs, and direct comparison between animal models and human disease might be of importance. PMID:27076594

  20. Pulmonary Langerhans cell Histiocytosis.

    Science.gov (United States)

    Harari, S; Comel, A

    2001-10-01

    Pulmonary Langerhans cell Histiocytosis is a rare granulomatous disease affecting both sexes, with greater incidence in the second and third decades of life; smoking appears to be the most important risk factor. Its etiology is unknown, although there are data indicating an uncontrolled immune response as possible cause, sustained by the Langerhans cells, antigen presenting cells for T lymphocytes, and their accumulation in the distal bronchioles; these cells express on their surface the CD1a and CD1c antigens, and the B7 molecule, essential for activating quiescent T lymphocytes. In its evolution the granuloma is characterized by the progressive reduction in the LC number, with the increase of fibrosis, surrounding and destroying the bronchiolar lumen; the remaining of the lumen, or the traction exerted by fibrous tissue on the adjacent alveolar spaces leads to the cyst development. Vascular involvement occurs frequently, and may explain the onset of pulmonary hypertension in advanced cases of the disease. The disease may be asymptomatic, or it may present with aspecific respiratory signs and symptoms, and has characteristic radiological findings, being included in the group of cysticaerial parenchymal alterations. The diagnosis could be suggested by the finding of a number of LC in BAL greater than 5%. Different therapies have been proposed, but it seems that the most important measure is smoking cessation. PMID:11587096

  1. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  2. Pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    B. Crestani

    2011-06-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 90% of cases. Although not specific, high-resolution computed tomography shows a characteristic “crazy paving” pattern. In most cases, bronchoalveolar lavage findings establish the diagnosis. Whole lung lavage is the most effective therapy, especially for auto-immune disease. Novel therapies targeting alveolar macrophages (recombinant GM-CSF therapy or anti-GM-CSF antibodies (rituximab and plasmapheresis are being investigated. Our knowledge of the pathophysiology of PAP has improved in the past 20 yrs, but therapy for PAP still needs improvement.

  3. Pulmonary alveolar proteinosis

    Directory of Open Access Journals (Sweden)

    Hadice Selimoğlu Şen

    2011-06-01

    Full Text Available Pulmonary alveolar proteinosis is a rare disease characterized by the accumulation of lipoproteinosis material within the alveoli. A 36 age male patient applied to our hospital with dyspnea that began 5 months ago. Bilateral diffuse infiltration on postero-anterior chest graphy was seen. Arterial blood gas measurements (ABG was: pH:7.44, pCO2: 36 mmHg, pO2: 49 mmHg, SaO2: 85%, HCO3: 24 mmol/L. High resolution computed tomography (HRCT reported as bilateral diffuse ground glass areas and interlobuler septal thickening on this areas. Asido resistant bacillus was negative in sputum at three times and was also negative in post bronchoscopic sputum and bronchoalveoler lavage material. Wedge resection was made by video-assisted thoracoscopic surgery. Histopathology report of biopsy material revealed “Pulmonary alveolar proteinosis (PAP”. Massive lung lavage under general anesthesia was planned for patient. Clinical improvement was seen in patient beginning from admission and ABG measurements entered the recovery trend in follow-up. Partial pressure of oxygen was increased to 65 mmHg and patient was followed without lung lavage. Control chest radiography and HRCT showed significant radiological improvement. After three months, radiological lesions had completely regressed at control HRCT. As a result, in patients with symptoms and radiologically bilateral diffuse infiltration physicians should consider PAP as a rare disease in the differential diagnosis.

  4. Pulmonary emphysema and smoking

    International Nuclear Information System (INIS)

    We assessed the relation between PE and smoking in 1,563 cases (1,068 men and 495 women) who underwent CT scaring for suspicion of respiratory disease on chest radiograph or some respiratory complaints. PE was diagnosed by the existence of low attenuation areas in CT scan and not by pulmonary function tests. CT was performed with 10 mm collimation in a standard algorithm. There were 2 subtypes of pulmonary emphysema: centrilobular and paraseptal emphysema. PE, regardless of the grade, was seen: in 189 out of 348 (54.3%) cases in males smokers and in only 2 out of 63 (3.2%) cases in male non-smokers; and in 5 out of 25 (20.0%) in female smokers and in 4 out of 203 (2.0%) in female non-smokers. PE was observed in more than half of male smokers. High incidence of PE was also observed in even younger generation, and severity would progress with advancing age and smoking. Both types of emphysema progress with age and amount of cigarette smoking. (author)

  5. Pulmonary manifestation of leptospirosis

    Energy Technology Data Exchange (ETDEWEB)

    Im, Jung Gi; Yeon, Kyung Mo; Han, Man Chung; Kim, Chu Wan; Lee, Jung Sang; Kim, Suhng Gwon; Han, Yong Chol; Chang, Woo Hyun; Chi, Je Geun [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1986-02-15

    Authors analysed and present chest X-ray findings of serologically proven leptospirosis from Seoul National University Hospital, either admitted or referred for serological verification, during recent 2 years. Radiological findings were correlated with the lung specimen findings of experimentally induced leptospirosis in guinea pig. The results are as follows: 1. 24 cases (56%) showed positive X-ray findings. 2. Predominant radiological patterns of involved lung were tiny dot, small nodule, rosette density in 11 cases, massive confluent consolidation in 4 cases, and diffuse ill-defined velly increased density in 9 cases. 3. Distribution of pulmonary lesions were bilateral (100%), non-lobar, non-segmental (95%), and there were conspicuous tendency of peripheral lung predominance. 4. Extrapulmonary manifestation, such as pleural effusion or cardiomegaly was rate. 5. Pulmonary lesions resolved completely usually 5 to 10 days after their appearance. 6. From the gross and microscopic findings of serially sacrificed guinea pig's lung and a case of autopsy, authors concluded that fine dot-like density in chest X-ray was due to paleolithic hemorrhage in intraalveolar space at initial stage, growing up to ressette density or confluent consolidation as the pathetic extends to surrounding lung forming purpura and coalescent hemorrhage.

  6. Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2.

    Science.gov (United States)

    Shariflou, M R; Wade, C M; Kijas, J; McCulloch, R; Windsor, P A; Tammen, I; Nicholas, F W

    2013-04-01

    A genome scan was conducted to map the autosomal recessive lethal disorder brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Poll Merino sheep. The scan involved 10 affected and 27 unaffected animals from a single Poll Merino/Merino sheep flock, which were genotyped with the Illumina Ovine SNP50 BeadChip. Association and homozygosity mapping analyses located the disorder in a region comprising 20 consecutive SNPs spanning 1.1 Mb towards the distal end of chromosome OAR2. All affected animals and none of the unaffected animals were homozygous for the associated haplotype in this region. These results provide the basis for identifying the causative mutation(s) and should enable the development of a DNA test to identify carriers in the Poll Merino sheep population. Understanding the molecular control of BCRHS may provide insight into the fundamental genetic control and regulation of the affected organ systems.

  7. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

    DEFF Research Database (Denmark)

    Hardies, Katia; de Kovel, Carolien G F; Weckhuysen, Sarah;

    2015-01-01

    mutations in SLC13A5. SLC13A5 encodes a high affinity sodium-dependent citrate transporter, which is expressed in the brain. Neurons are considered incapable of de novo synthesis of tricarboxylic acid cycle intermediates; therefore they rely on the uptake of intermediates, such as citrate, to maintain...... their energy status and neurotransmitter production. The effect of all seven identified mutations (two premature stops and five amino acid substitutions) was studied in vitro, using immunocytochemistry, selective western blot and mass spectrometry. We hereby demonstrate that cells expressing mutant sodium......-dependent citrate transporter have a complete loss of citrate uptake due to various cellular loss-of-function mechanisms. In addition, we provide independent proof of the involvement of autosomal recessive SLC13A5 mutations in the development of neonatal epileptic encephalopathies, and highlight teeth hypoplasia...

  8. Pulmonary Hypertension and Computed Tomography Measurement of Small Pulmonary Vessels in Severe Emphysema

    OpenAIRE

    Matsuoka, Shin; George R. Washko; Yamashiro, Tsuneo; Estepar, Raul San Jose; Diaz, Alejandro; Silverman, Edwin K.; Hoffman, Eric; Fessler, Henry E.; Criner, Gerard J.; Marchetti, Nathaniel; Scharf, Steven M; Martinez, Fernando J; Reilly, John J.; Hatabu, Hiroto

    2009-01-01

    Rationale: Vascular alteration of small pulmonary vessels is one of the characteristic features of pulmonary hypertension in chronic obstructive pulmonary disease. The in vivo relationship between pulmonary hypertension and morphological alteration of the small pulmonary vessels has not been assessed in patients with severe emphysema.

  9. Meandering right pulmonary vein associated with severe and progressive "idiopathic-like" pulmonary hypertensive vascular disease.

    Science.gov (United States)

    Cuenca, Sofia; Bret, Montserrat; del Cerro, Maria Jesus

    2016-03-01

    Congenital anomalies of the pulmonary veins are rare. Meandering right pulmonary vein, considered a part of the Scimitar syndrome spectrum, is often an incidental finding during chest imaging. We present the case of a 4-year-old girl diagnosed with meandering pulmonary vein, who developed pulmonary hypertensive disease with an aggressive course, in spite of absence of hypoxia or elevated pulmonary wedge pressure.

  10. Pulmonary alveolar microlithiasis with calcified pleural plaques

    Directory of Open Access Journals (Sweden)

    Malhotra Balbir

    2010-01-01

    Full Text Available Pulmonary alveolar microlithiasis (PAM is a rare disease. Herein we report a case of pulmonary alveolar microlithiasis who was suspected to have the disease on chest X-ray and was confirmed on high resolution CT and transbronchial lung biopsy. These investigations showed characteristic features of pulmonary alveolar microlithiasis with diffuse interstitial pulmonary fibrosis.

  11. Pulmonary alveolar microlithiasis with calcified pleural plaques

    OpenAIRE

    Malhotra Balbir; Sabharwal Raghu; Singh Mandeep; Singh Amarjeet

    2010-01-01

    Pulmonary alveolar microlithiasis (PAM) is a rare disease. Herein we report a case of pulmonary alveolar microlithiasis who was suspected to have the disease on chest X-ray and was confirmed on high resolution CT and transbronchial lung biopsy. These investigations showed characteristic features of pulmonary alveolar microlithiasis with diffuse interstitial pulmonary fibrosis.

  12. Celiac disease with pulmonary haemosiderosis and cardiomyopathy

    OpenAIRE

    Işikay, Sedat; Yilmaz, Kutluhan; Kilinç, Metin

    2012-01-01

    Celiac disease or pulmonary haemosiderosis can be associated with several distinguished conditions. Pulmonary haemosiderosis is a rare, severe and fatal disease characterised by recurrent episodes of alveolar haemorrhage, haemoptysis and anaemia. Association of pulmonary haemosiderosis and celiac disease is extremely rare. We describe a case of celiac disease presented with dilated cardiomyopathy and pulmonary haemosiderosis without gastrointestinal symptoms of celiac disease. In addition, vi...

  13. Pulmonary complications in renal transplantation

    International Nuclear Information System (INIS)

    To evaluate the radiographic and CT findings of pulmonary complications other than pulmonary edema arising from renal transplantation. Among 393 patients who had undergone renal transplantation at our hospital during a previous ten-year period, 23 with pulmonary complications other than pulmonary edema were included in this study. The complications involved were infection caused by CMV (n=6), bacteria (n=4), fungus (n=4), tuberculosis (n=2), varicella (n=1) or chlamydia (n=1), and malignancy involving lung cancer (n=4) or Kaposi's sarcoma (n=1). Two chest radiologists reviewed all images. The complications manifesting mainly as pulmonary nodules were lung cancer (4/4), tuberculosis (1/2), and Kaposi's sarcoma (1/1). Pulmonary consolidation was a main feature in bacterial infection (4/4), fungal infection (3/4), tuberculosis (1/2), chlamydial infection (1/1), and varicellar pneumonia (1/1). Ground-glass attenuation was a main CT feature in CMV pneumonia (4/6), and increased interstitial making was a predominant radiographic feature in CMV pneumonia (2/6). The main radiologic features described above can be helpful for differential diagnosis of the pulmonary complications of renal transplantation

  14. Idiopathic pulmonary fibrosis

    Directory of Open Access Journals (Sweden)

    Noble Paul W

    2008-03-01

    Full Text Available Abstract Idiopathic pulmonary fibrosis (IPF is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease which affects approximately 5 million persons worldwide. The prevalence is estimated to be slightly greater in men (20.2/100,000 than in women (13.2/100,000. The mean age at presentation is 66 years. IPF initially manifests with symptoms of exercise-induced breathless and dry coughing. Auscultation of the lungs reveals early inspiratory crackles, predominantly located in the lower posterior lung zones upon physical exam. Clubbing is found in approximately 50% of IPF patients. Cor pulmonale develops in association with end-stage disease. In that case, classic signs of right heart failure may be present. Etiology remains incompletely understood. Some environmental factors may be associated with IPF (cigarette smoking, exposure to silica and livestock. IPF is recognized on high-resolution computed tomography by peripheral, subpleural lower lobe reticular opacities in association with subpleural honeycomb changes. IPF is associated with a pathological lesion known as usual interstitial pneumonia (UIP. The UIP pattern consists of normal lung alternating with patches of dense fibrosis, taking the form of collagen sheets. The diagnosis of IPF requires correlation of the clinical setting with radiographic images and a lung biopsy. In the absence of lung biopsy, the diagnosis of IPF can be made by defined clinical criteria that were published in guidelines endorsed by several professional societies. Differential diagnosis includes other idiopathic interstitial pneumonia, connective tissue diseases (systemic sclerosis, polymyositis, rheumatoid arthritis, forme fruste of autoimmune disorders, chronic hypersensitivity pneumonitis and other environmental (sometimes occupational exposures. IPF is typically progressive and leads to significant

  15. Idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Meltzer, Eric B; Noble, Paul W

    2008-01-01

    Idiopathic pulmonary fibrosis (IPF) is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease which affects approximately 5 million persons worldwide. The prevalence is estimated to be slightly greater in men (20.2/100,000) than in women (13.2/100,000). The mean age at presentation is 66 years. IPF initially manifests with symptoms of exercise-induced breathless and dry coughing. Auscultation of the lungs reveals early inspiratory crackles, predominantly located in the lower posterior lung zones upon physical exam. Clubbing is found in approximately 50% of IPF patients. Cor pulmonale develops in association with end-stage disease. In that case, classic signs of right heart failure may be present. Etiology remains incompletely understood. Some environmental factors may be associated with IPF (cigarette smoking, exposure to silica and livestock). IPF is recognized on high-resolution computed tomography by peripheral, subpleural lower lobe reticular opacities in association with subpleural honeycomb changes. IPF is associated with a pathological lesion known as usual interstitial pneumonia (UIP). The UIP pattern consists of normal lung alternating with patches of dense fibrosis, taking the form of collagen sheets. The diagnosis of IPF requires correlation of the clinical setting with radiographic images and a lung biopsy. In the absence of lung biopsy, the diagnosis of IPF can be made by defined clinical criteria that were published in guidelines endorsed by several professional societies. Differential diagnosis includes other idiopathic interstitial pneumonia, connective tissue diseases (systemic sclerosis, polymyositis, rheumatoid arthritis), forme fruste of autoimmune disorders, chronic hypersensitivity pneumonitis and other environmental (sometimes occupational) exposures. IPF is typically progressive and leads to significant disability. The median

  16. Pulmonary hypertension in POEMS syndrome

    OpenAIRE

    Jian LI; Tian, Zhuang; Zheng, Hao-Yi; Zhang, Wei; Duan, Ming-Hui; Liu, Yong-Tai; Cao, Xin-Xin; Zhou, Dao-bin

    2013-01-01

    POEMS syndrome is a rare clonal plasma cell disease. Patients with POEMS syndrome are at risk of developing pulmonary hypertension, but the data on its incidence and impact on outcome are limited. We reviewed records of 154 POEMS syndrome patients with complete duplex echocardiography data for estimation of pulmonary artery systolic pressure (sPAP) at the time of diagnosis. Forty-two (27%) of 154 patients with pulmonary hypertension (estimated sPAP ≥50mmHg) were identified. Median age was 46 ...

  17. Proapoptotic Bid is required for pulmonary fibrosis

    OpenAIRE

    Budinger, G.R. Scott; Mutlu, Gökhan M.; Eisenbart, James; Fuller, Alyson C.; Bellmeyer, Amy A.; Baker, Christina M.; Wilson, Mindy; Ridge, Karen; Terrence A. Barrett; Lee, Vivian Y.; Chandel, Navdeep S.

    2006-01-01

    The molecular mechanisms of pulmonary fibrosis are poorly understood. Previous reports indicate that activation of TGF-β1 is essential for the development of pulmonary fibrosis. Here, we report that the proapoptotic Bcl-2 family member Bid is required for the development of pulmonary fibrosis after the intratracheal instillation of bleomycin. Mice lacking Bid exhibited significantly less pulmonary fibrosis in response to bleomycin compared with WT mice. The attenuation in pulmonary fibrosis w...

  18. Amiodarone-induced pulmonary toxicity mimicking acute pulmonary edema.

    Science.gov (United States)

    Fabiani, Iacopo; Tacconi, Danilo; Grotti, Simone; Brandini, Rossella; Salvadori, Claudia; Caremani, Marcello; Bolognese, Leonardo

    2011-05-01

    Amiodarone is a highly effective antiarrhythmic drug. Its long-term use may, however, lead to several adverse effects, with pulmonary toxicity being the most serious. The article presents the case of a 78-year-old woman with a history of cardiac surgery, who after 2 years of amiodarone therapy for prophylactic treatment of atrial fibrillation developed amiodarone pneumonitis mimicking an acute pulmonary edema. The patient failed to respond to diuretic therapy and several courses of anti-infective therapy. Differential diagnosis of different causes of pulmonary infiltrates did not demonstrate any other abnormality. Lung biopsy findings were consistent with the diagnosis of amiodarone pneumonitis. Given the widespread use of amiodarone as an antiarrhythmic agent, pneumologists and cardiologists should consider this important adverse effect as a differential diagnosis of pulmonary distress refractory to therapy in all patients treated with amiodarone who present with respiratory symptoms and pneumonia-like illness. PMID:19924000

  19. Nuclear scan of pulmonary hemorrhage in radiopathic pulmonary hemosiderosis

    International Nuclear Information System (INIS)

    Idiopathic pulmonary hemosiderosis, a disease of unknown etiology most often occuring in children, is characterized by recurring episodes of alveolar consolidation. Exacerbations of pulmonary hemorrhage coincide with episodes of alveolar filling; repeated episodes lead to progressive interstitial fibrosis and eventually to corpulmonale. Serial nuclear scans of the lungs after injection of radiolabeled red blood cells should parallel the pathologic and radiographic findings. We observed the accumulation of radiolabeled red blood cells in the lungs on scan images, a finding not previously reported

  20. Mycobacterial Pulmonary Infections in Patients with Idiopathic Pulmonary Fibrosis

    OpenAIRE

    Park, Sung-Woo; Song, Jin Woo; Shim, Tae Sun; Park, Moo-Suk; Lee, Hong-Lyeol; Uh, Soo-taek; Park, Choon-Sik; Kim, Dong Soon

    2012-01-01

    Patients with idiopathic pulmonary fibrosis (IPF) have an increased risk for developing tuberculosis (TB). However, no studies have been reported regarding the development of nontuberculous mycobacterium (NTM) lung disease (NTMLD). We reviewed 795 patients with IPF from five university hospitals who were diagnosed by histological or radio-clinical criteria. In the 795 patients with IPF, pulmonary infections with mycobacterium tuberculosis (MTB) and NTM were found in 35 (4.4%) and 16 patients ...

  1. Recurrent pulmonary hyalinizing granuloma.

    Science.gov (United States)

    Arruda, Guilherme D'Andréa Saba; Carvalho, Paulo César Ribeiro de; Andrade, Mara Patrícia Guilhermino de; Cusmanich, Maurício Campos; Bandeira, Gustavo; Tozaki, Felipe Shigueo Passos

    2010-01-01

    We report the case of a 61-year-old male patient who underwent surgical excision of a lung mass for anatomopathological study. The patient had previously presented with fever, dry cough, and chest pain, together with lung masses detected by chest X-ray, and had undergone thoracotomy for diagnostic investigation on two occasions (1976 and 1981), although a conclusive diagnosis had not been made. A CT scan of the chest revealed large masses with areas of calcification in both lung fields. The anatomopathological study was consistent with pulmonary hyalinizing granuloma. In the postoperative period, the patient experienced several episodes of bronchospasm, which was reversible with the use of symptomatic medication. At this writing, the patient was receiving maintenance therapy with prednisone (40 mg/day) and had shown clinical improvement. PMID:21085833

  2. Endogenous pulmonary antibiotics.

    Science.gov (United States)

    Gibbons, M A; Bowdish, D M; Davidson, D J; Sallenave, J M; Simpson, A J

    2006-05-01

    The human lung produces a variety of peptides and proteins which have intrinsic antimicrobial activity. In general these molecules have broad spectra of antimicrobial activity, kill micro-organisms rapidly, and evade resistance generated by pathogens. In recent years it has become increasingly apparent that the antimicrobial peptides (AMPs) simultaneously possess immunomodulatory functions, suggesting complex roles for these molecules in regulating the clearance of, and immune response to, invading pathogens. These collective properties have stimulated considerable interest in the potential clinical application of endogenous AMPs. This article outlines the biology of AMPs, their pattern of expression in the lung, and their functions, with reference to both antimicrobial and immunomodulatory activity. We then consider the biological importance of AMPs, before concentrating on the potential to use AMPs to therapeutic effect. The principles discussed in the article apply to innate immune defence throughout the body, but particular emphasis is placed on AMPs in the lung and the potential application to pulmonary infection. PMID:16722137

  3. Pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: pathophysiology

    Directory of Open Access Journals (Sweden)

    M. Humbert

    2010-03-01

    Full Text Available Pulmonary arterial hypertension (PAH and chronic thromboembolic pulmonary hypertension (CTEPH are two of the key subgroups of pulmonary hypertension. They are characterised by different risk factors. PAH can be associated with mutations in the gene encoding bone morphogenetic protein receptor type II (BMPR2, HIV infection, congenital heart disease, connective tissue disease (such as systemic sclerosis, and exposure to particular drugs and toxins including fenfluramine derivatives. In contrast, CTEPH can be associated with anti-phospholipid antibodies, splenectomy and the presence of a ventriculo-atrial shunt or an infected pacemaker. The first-line therapies used to treat PAH and CTEPH also differ. While medical therapy tends to be used for patients with PAH, pulmonary endarterectomy is the treatment of choice for patients with CTEPH. However, there are possible common mechanisms behind the two diseases, including endothelial cell dysfunction and distal pulmonary artery remodelling. Further research into these similarities is needed to assist the development of targeted pharmacological therapies for patients with inoperable CTEPH and patients who have persistent pulmonary hypertension after endarterectomy.

  4. Pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: pathophysiology.

    Science.gov (United States)

    Humbert, M

    2010-03-01

    Pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) are two of the key subgroups of pulmonary hypertension. They are characterised by different risk factors. PAH can be associated with mutations in the gene encoding bone morphogenetic protein receptor type II (BMPR2), HIV infection, congenital heart disease, connective tissue disease (such as systemic sclerosis), and exposure to particular drugs and toxins including fenfluramine derivatives. In contrast, CTEPH can be associated with anti-phospholipid antibodies, splenectomy and the presence of a ventriculo-atrial shunt or an infected pacemaker. The first-line therapies used to treat PAH and CTEPH also differ. While medical therapy tends to be used for patients with PAH, pulmonary endarterectomy is the treatment of choice for patients with CTEPH. However, there are possible common mechanisms behind the two diseases, including endothelial cell dysfunction and distal pulmonary artery remodelling. Further research into these similarities is needed to assist the development of targeted pharmacological therapies for patients with inoperable CTEPH and patients who have persistent pulmonary hypertension after endarterectomy. PMID:20956167

  5. Massive Pulmonary Hemorrhage from Dual Circulation Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

    OpenAIRE

    Sharma, Krishna B.; Lutz Forkert

    2004-01-01

    Pulmonary arteriovenous malformations (AVMs) are commonly supplied by the pulmonary arterial system and rarely by the systemic bronchial circulation. The authors outline the case of a young woman with pulmonary AVMs as part of hereditary hemorrhagic telangiectasia with the uncommon presentation of massive hemoptysis. Management of her recurrent, life-threatening pulmonary hemorrhage was complicated by pulmonary AVMs that were supplied by both the pulmonary and systemic bronchial arterial circ...

  6. A Case of Pulmonary Varix Associated with Superior Pulmonary Vein Occlusion

    OpenAIRE

    Tajiri, Sakurako; Koizumi, Jun; Hara, Takuya; Kamono, Masahiro; Hayama, Naoki; Kobayashi, Ichiro; Kondo, Yusuke; Kondo, Tetsuri; Asano, Koichiro; Abe, Tadashi

    2012-01-01

    A pulmonary varix is a localized dilatation of a pulmonary vein, which is usually asymptomatic presented as a mass on a chest roentgenogram, and diagnosed with pulmonary angiography. We encountered a case of 55 year-old man, in whom incidentally identified was a dilated blood vessel that passed through the minor fissure and returned to the inferior pulmonary vein, which we diagnosed as pulmonary varix. This vascular anomaly was accompanied by the occluded superior pulmonary vein, highly sugge...

  7. Decreased time constant of the pulmonary circulation in chronic thromboembolic pulmonary hypertension

    OpenAIRE

    MacKenzie Ross, Robert V.; Toshner, Mark R.; Soon, Elaine; Naeije, Robert; Pepke-Zaba, Joanna

    2013-01-01

    This study analyzed the relationship between pulmonary vascular resistance (PVR) and pulmonary arterial compliance (Ca) in patients with idiopathic pulmonary arterial hypertension (IPAH) and proximal chronic thromboembolic pulmonary hypertension (CTEPH). It has recently been shown that the time constant of the pulmonary circulation (RC time constant), or PVR × Ca, remains unaltered in various forms and severities of pulmonary hypertension, with the exception of left heart failure. We reasoned...

  8. Pulmonary ventilation/perfusion scan

    Science.gov (United States)

    V/Q scan; Ventilation/perfusion scan; Lung ventilation/perfusion scan ... A pulmonary ventilation/perfusion scan is actually two tests. They may be done separately or together. During the perfusion scan, a health care ...

  9. COPD (Chronic Obstructive Pulmonary Disease)

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is COPD? Español COPD, or chronic obstructive pulmonary (PULL-mun- ... can clog them. Normal Lungs and Lungs With COPD Figure A shows the location of the lungs ...

  10. Traumatic lesions of pulmonary parenchyma

    International Nuclear Information System (INIS)

    Five cases of post-traumatic pulmonary lesions (contusion, laceration and hematoma) are presented. The pathophysiology, radiological aspects and differential diagnosis are reviewed. The benign evolution showing the absorption in short time, without medical interference is emphasized. (Author)

  11. Pulmonary ventilation/perfusion scan

    Science.gov (United States)

    V/Q scan; Ventilation/perfusion scan; Lung ventilation/perfusion scan ... A pulmonary ventilation/perfusion scan is actually two tests. They may be done separately or together. During the perfusion scan, a health ...

  12. Cytologic features of pulmonary blastoma

    Directory of Open Access Journals (Sweden)

    Sai Shalini C

    2009-01-01

    Full Text Available Pulmonary blastomas are rare lung neoplasms constituting 0.5% of all lung tumors. This tumor has an aggressive course and needs to be recognized on cytology. A preoperative diagnosis of pulmonary blastoma is difficult to obtain by cytopathologic methods. A diagnosis of biphasic pulmonary blastoma should be considered when there is a dimorphic population of cells on cytology. A 30-year-old male presented with gradually progressing breathlessness and left-sided chest pain for the past one month. Chest radiograph and computed tomography of thorax revealed an anterior mediastinal mass that was subjected to ultrasound-guided fine-needle aspiration cytology. Aspiration cytology showed a highly cellular lesion with a dimorphic population of tumor cells in a necrotic background. The possibility of a non-small cell carcinoma was suggested. Subsequent histopathology revealed the tumor to be a pulmonary blastoma. The importance of recognizing the dimorphic population of cells in cytology is discussed.

  13. Chronic cough and pulmonary infiltrates

    International Nuclear Information System (INIS)

    Case of chronic cough and pulmonary infiltrates, in patient feminine of 66 years who she consults for scheme of cough with mucous expectoration that it increases with the exhibition to the powder and the cold

  14. Serum calcium in pulmonary tuberculosis

    OpenAIRE

    Subhash C. Sharma

    1981-01-01

    Serum calcium was studied serially in 94 patients with active pulmonary tuberculosis. An equal number of age- and sex-matched patients with chronic obstructive pulmonary disease were controls. Seventy patients in the study group were normocalcaemic and 10 were hypercalcaemic. These 10 were on a higher supplement of vitamin D than the 70 normocalcaemic patients. There was a positive correlation between the daily vitamin intake and the degree and duration of hypercalcaemia. None of the controls...

  15. New Mechanisms of Pulmonary Fibrosis

    OpenAIRE

    Strieter, Robert M.; Mehrad, Borna

    2009-01-01

    The understanding of the pathogenesis of pulmonary fibrosis continues to evolve. The initial hypothetical model suggested chronic inflammation as the cause of pulmonary fibrosis, whereas a subsequent hypothesis posited epithelial injury and impaired wound repair as the etiology of fibrosis without preceding inflammation. Over the past decade, several concepts have led to refinement of these hypotheses. These include the following: (1) the importance of the integrity of the alveolar-capillary ...

  16. Pulmonary Surfactant: An Immunological Perspective

    OpenAIRE

    Chroneos, Zissis C.; Sever-Chroneos, Zvjezdana; Shepherd, Virginia L.

    2009-01-01

    Pulmonary surfactant has two crucial roles in respiratory function; first, as a biophysical entity it reduces surface tension at the air water interface, facilitating gas exchange and alveolar stability during breathing, and, second, as an innate component of the lung's immune system it helps maintain sterility and balance immune reactions in the distal airways. Pulmonary surfactant consists of 90% lipids and 10% protein. There are four surfactant proteins named SP-A, SP-B, SP-C, and SP-D; th...

  17. Pulmonary Hypertension Secondary to COPD

    OpenAIRE

    Adil Shujaat; Abubakr A. Bajwa; Cury, James D.

    2012-01-01

    The development of pulmonary hypertension in COPD adversely affects survival and exercise capacity and is associated with an increased risk of severe acute exacerbations. Unfortunately not all patients with COPD who meet criteria for long term oxygen therapy benefit from it. Even in those who benefit from long term oxygen therapy, such therapy may reverse the elevated pulmonary artery pressure but cannot normalize it. Moreover, the recent discovery of the key roles of endothelial dysfunction ...

  18. Pulmonary function in Parkinson's disease.

    OpenAIRE

    Hovestadt, A.; Bogaard, J. M.; Meerwaldt, J D; van der Meché, F G; Van Stigt, J.

    1989-01-01

    Pulmonary function was investigated in 31 consecutive patients with relatively severe Parkinson's disease. Clinical disability was assessed by Hoehn and Yahr scale, Northwestern University Disability Scale and Websterscore. All patients were on levodopa substitution therapy and used anticholinergics. Pulmonary function was investigated by spirography, determination of a maximal inspiratory and expiratory flow-volume curve and, when possible, maximal static mouth pressures were determined. Pea...

  19. Multiple chronic benign pulmonary nodules.

    Science.gov (United States)

    Kalifa, L G; Schimmel, D H; Gamsu, G

    1976-11-01

    Four cases are discussed in which were found unusual multiple chronic pulmonary nodules: leiomyomatous hamartomas, rheumatoid nodules, multiple histoplasmomas, and possible multiple plasma cell granulomas (hyalinizing pulmonary nodules). In each case the initial impression of metastic malignancy was countered by more than 2 years' observation, during which time the lesions appeared to be benign. Histologic examination is necessary to exclude malignancy, although a definitive diagnosis may be difficult to establish. PMID:981596

  20. Occupational chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Omland, Oyvind; Würtz, Else Toft; Aasen, Tor Brøvig;

    2014-01-01

    Occupational-attributable chronic obstructive pulmonary disease (COPD) presents a substantial health challenge. Focusing on spirometric criteria for airflow obstruction, this review of occupational COPD includes both population-wide and industry-specific exposures.......Occupational-attributable chronic obstructive pulmonary disease (COPD) presents a substantial health challenge. Focusing on spirometric criteria for airflow obstruction, this review of occupational COPD includes both population-wide and industry-specific exposures....

  1. Diseases of Pulmonary Surfactant Homeostasis

    OpenAIRE

    Jeffrey A Whitsett; Wert, Susan E.; Weaver, Timothy E.

    2015-01-01

    Advances in physiology and biochemistry have provided fundamental insights into the role of pulmonary surfactant in the pathogenesis and treatment of preterm infants with respiratory distress syndrome. Identification of the surfactant proteins, lipid transporters, and transcriptional networks regulating their expression has provided the tools and insights needed to discern the molecular and cellular processes regulating the production and function of pulmonary surfactant prior to and after bi...

  2. Pulmonary lymphangioleiomyomatosis in a male.

    OpenAIRE

    Kang, H. W.; Kim, C. J.; Kang, S K; Lee, K. S.; C. S. LEE; Kim, Y.H.(Center for Underground Physics, Institute for Basic Science (IBS), Daejon, 305-811, Korea)

    1991-01-01

    Pulmonary lymphangioleiomyomatosis has been observed almost exclusively in women, usually in their reproductive years. Exacerbations with pregnancy and after hormonal manipulation have been documented, and it has been suggested that its pathogenesis is due to the influence of hormonal(estrogenic) stimulus. The clinical, roentgenographic, and histopathologic features of this case of pulmonary lymphangioleiomyomatosis in a 22-year-old male are all characteristic of those described in prior repo...

  3. Cardiovascular Function in Pulmonary Emphysema

    OpenAIRE

    Dina Visca; Marina Aiello; Alfredo Chetta

    2013-01-01

    Chronic obstructive pulmonary disease (COPD) and chronic cardiovascular disease, such as coronary artery disease, congestive heart failure, and cardiac arrhythmias, have a strong influence on each other, and systemic inflammation has been considered as the main linkage between them. On the other hand, airflow limitation may markedly affect lung mechanics in terms of static and dynamic hyperinflation, especially in pulmonary emphysema, and they can in turn influence cardiac performance as well...

  4. Balloon pulmonary angioplasty: a treatment option for inoperable patients with chronic thromboembolic pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Aiko eOgawa

    2015-02-01

    Full Text Available In chronic thromboembolic pulmonary hypertension, stenoses or obstructions of the pulmonary arteries due to organized thrombi can cause an elevation in pulmonary artery resistance, which in turn can result in pulmonary hypertension. Chronic thromboembolic pulmonary hypertension can be cured surgically by pulmonary endarterectomy; however, patients deemed unsuitable for pulmonary endarterectomy due to lesion, advanced age, or comorbidities have a poor prognosis and limited treatment options. Recently, advances have been made in balloon pulmonary angioplasty for these patients, and this review highlights this recent progress.

  5. Treatment of pediatric pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    Amy Hawkins

    2009-06-01

    Full Text Available Amy Hawkins, Robert TullohDepartment of Congenital Heart Disease, Bristol Royal Hospital for Children, Bristol UKAbstract: Pulmonary hypertension was once thought to be a rare condition and only managed in specialized centers. Now however, with the advent of echocardiography, it is found in many clinical scenarios, in the neonate with chronic lung disease, in the acute setting in the intensive care unit, in connective tissue disease and in cardiology pre- and postoperatively. We have a better understanding of the pathological process and have a range of medication which is starting to be able to palliate this previously fatal condition. This review describes the areas that are known in this condition and those that are less familiar. The basic physiology behind pulmonary hypertension and pulmonary vascular disease is explained. The histopathologic process and the various diagnostic tools are described and are followed by the current and future therapy at our disposal.Keywords: pulmonary hypertension, congenital heart disease, pulmonary vascular resistance, pulmonary vasodilators

  6. Pulmonary veno-occlusive disease.

    Science.gov (United States)

    Montani, David; Lau, Edmund M; Dorfmüller, Peter; Girerd, Barbara; Jaïs, Xavier; Savale, Laurent; Perros, Frederic; Nossent, Esther; Garcia, Gilles; Parent, Florence; Fadel, Elie; Soubrier, Florent; Sitbon, Olivier; Simonneau, Gérald; Humbert, Marc

    2016-05-01

    Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterised by preferential remodelling of the pulmonary venules. In the current PH classification, PVOD and pulmonary capillary haemangiomatosis (PCH) are considered to be a common entity and represent varied expressions of the same disease. The recent discovery of biallelic mutations in the EIF2AK4 gene as the cause of heritable PVOD/PCH represents a major milestone in our understanding of the molecular pathogenesis of PVOD. Although PVOD and pulmonary arterial hypertension (PAH) share a similar clinical presentation, with features of severe precapillary PH, it is important to differentiate these two conditions as PVOD carries a worse prognosis and life-threatening pulmonary oedema may occur following the initiation of PAH therapy. An accurate diagnosis of PVOD based on noninvasive investigations is possible utilising oxygen parameters, low diffusing capacity for carbon monoxide and characteristic signs on high-resolution computed tomography of the chest. No evidence-based medical therapy exists for PVOD at present and lung transplantation remains the preferred definitive therapy for eligible patients. PMID:27009171

  7. Lung imaging in pulmonary disease

    International Nuclear Information System (INIS)

    Although it has been recognized for several years that chronic obstructive pulmonary disease (COPD) can cause lung perfusion defects which may simulate pulmonary embolism, relatively little use has been made of either the radioxenon or the radioaerosol inhalation lung imaging procedures until the last few years as a means of distinguishing pulmonary embolism (P.E.) from COPD is reported. Recent experience is reported with the use of both of these procedures in comparison with pulmonary function tests for the early detection of COPD in population studies and also in P.E. suspects. Equal emphasis is given to simultaneous aerosol ventilation-perfusion (V/P) imaging in the differential diagnosis of P.E. Finally, this paper is concerned with new developments in regional lung diffusion imaging following the inhalation of radioactive gases and rapidly absorbed radioaerosols. Their experimental basis is presented and their potential clinical applications in pulmonary embolism are discussed. As a result of these investigations, a functional (V/P) diagnosis of pulmonary embolism in patients may be possible in the near future with a sequential radioaerosol inhalation procedure alone

  8. Pulmonary Function Measures Predict Mortality Differently in Idiopathic Pulmonary Fibrosis versus Combined Pulmonary Fibrosis and Emphysema

    OpenAIRE

    Schmidt, Shelley L.; Nambiar, Anoop M.; Tayob, Nabihah; Sundaram, Baskaran; Han, MeiLan K.; Gross, Barry H.; Kazerooni, Ella A.; Chughtai, Aamer R.; Lagstein, Amir; Myers, Jeffrey L.; Murray, Susan; Toews, Galen B.; Martinez, Fernando J; Flaherty, Kevin R.

    2010-01-01

    The composite physiologic index(CPI) was derived to represent the extent of fibrosis on high resolution computed tomography, adjusting for emphysema in patients with idiopathic pulmonary fibrosis(IPF). We hypothesized longitudinal change in CPI would better predict mortality than forced expiratory volume in 1 second(FEV1), forced vital capacity(FVC), or diffusing capacity for carbon monoxide(DLCO) in all patients with IPF, and especially in those with combined pulmonary fibrosis and emphysema...

  9. Pulmonary interstitial glycogenosis within a discrete pulmonary lesion mimicking congenital pulmonary airway malformation

    OpenAIRE

    Robert L. Ricca; Goldin, Adam B.; Deutsch, Gail H.; Kimberly J Riehle

    2015-01-01

    Interstitial lung diseases (ILD) are a heterogeneous group of pulmonary disorders that are relatively rare in the pediatric population. These diseases are characterized by impaired gas exchange and typically manifest with diffuse infiltrates on radiographs. Pulmonary interstitial glycogenosis (PIG) has recently been identified as an ILD affecting neonates and infants that manifests diffusely throughout the lungs by imaging, has non-specific clinical features, and usually has a favorable outco...

  10. The diagnosis value of pulmonary perfusion/ventilation imaging for pulmonary embolism: in comparison with pulmonary artery angiography

    International Nuclear Information System (INIS)

    Objective: To evaluate the value of the pulmonary perfusion/ventilation imaging in diagnosis of pulmonary embolism (PE). Methods: Forty-five patients undergone pulmonary radionuclide imaging and pulmonary artery angiography in Fuwai Hospital were analyzed retrospectively. Results: Twenty-six patients were diagnosed as with PE by pulmonary angiography. For the pulmonary segments with complete filling defect on pulmonary artery angiography, the coincidence rate was 92.7% between the angiography and radionuclide pulmonary imaging, while the pulmonary segments with partial filling defect, the coincidence rate was 73.2% (P<0.01). The sensitivity and specificity were 92.3% and 84.2%, respectively. Both the positive predictive value and negative predictive value were 88.9%. Out of 26 patients with PE, 23 patients had also pulmonary ventilation imaging. The results showed mismatch between pulmonary perfusion and ventilation imaging in all of the 23 patients. Conclusion: The pulmonary perfusion plus pulmonary ventilation imaging plays an important role in diagnosing PE

  11. Coronary to pulmonary fistula as the primary source of pulmonary blood supply in pulmonary atresia with ventricular septal defect

    Directory of Open Access Journals (Sweden)

    Isman Firdaus

    2004-12-01

    Full Text Available A communication between the coronary and pulmonary arteries, so called coronary to pulmonary fistula, is a rare source of pulmonary supply in pulmonary atresia (PA with ventricular septal defect (VSD. A 4 year old girl referred to National Cardiovascular Center Harapan Kita, Jakarta with symptoms and signs of increased pulmonary blood flow since infancy and was confirmed by the chest x-rays. Heart examination revealed normal first heart sound with single loud second heart sound and an ejection systolic murmur at the pulmonary area. ECG demonstrated sinus rhythm with normal axis and biventricular hypertrophy. Echocardiography was performed and truncus arteriosus (TA type I was suspected with perimembranus VSD, overriding of the aorta, and dilated main pulmonary artery. But on cardiac catheterization studies, a non obstructive fistula was found between the left coronary and main pulmonary artery coexisted with PA and VSD. A successful surgery was performed subsequently and confirmed the above diagnosis. Although there were episodes of pulmonary hypertension crisis during early post operative course, she was then discharge from the hospital in a good condition. Since irreversible pulmonary vascular disease may develop in a non restrictive coronary to pulmonary fistula, early recognition of this anomaly is very important for better surgical result. (Med J Indones 2004; 13: 237-40Keywords: coronary to pulmonary fistula, pulmonary atresia, ventricular septal defect

  12. CT Pulmonary Angiography and Suspected Acute Pulmonary Embolism

    Energy Technology Data Exchange (ETDEWEB)

    Enden, T.; Kloew, N.E. [Ullevaal Univ. Hospital, Oslo (Norway). Dept. of Cardiovascular Radiology

    2003-05-01

    Purpose: To evaluate the use and quality of CT pulmonary angiography in our department, and to relate the findings to clinical parameters and diagnoses. Material and Methods: A retrospective study of 324 consecutive patients referred to CT pulmonary angiography with clinically suspected pulmonary embolism (PE). From the medical records we registered clinical parameters, blood gases, D-dimer, risk factors and the results of other relevant imaging studies. Results: 55 patients (17%) had PE detected on CT. 39 had bilateral PE, and 8 patients had isolated peripheral PE. 87% of the examinations showing PE had satisfactory filling of contrast material including the segmental pulmonary arteries, and 60% of the subsegmental arteries. D-dimer test was performed in 209 patients, 85% were positive. A negative D-dimer ruled out PE detected at CT. Dyspnea and concurrent symptoms or detection of deep vein thrombosis (DVT), contraceptive pills and former venous thromboembolism (VTE) were associated with PE. The presence of only one clinical parameter indicated a negative PE diagnosis (p < 0.017), whereas two or more suggested a positive PE diagnosis (p < 0.002). CT also detected various ancillary findings such as consolidation, pleural effusion, nodule or tumor in nearly half of the patients; however, there was no association with the PE diagnosis. Conclusion: The quality of CT pulmonary angiography was satisfactory as a first-line imaging of PE. CT also showed additional pathology of importance in the chest. Our study confirmed that a negative D-dimer ruled out clinically suspected VTE.

  13. HIPOPLASIA CEREBELAR E PORENCEFALIA EM BOVINOS CHAROLÊS NO SUL DO RIO GRANDE DO SUL CEREBELLAR HYPOPLASIA AND PORENCEPHALY IN CHAROLAIS CATLLE IN SOUTHERN BRAZIL

    Directory of Open Access Journals (Sweden)

    Ana Lucia Schild

    2001-02-01

    Full Text Available Descrevem-se dois casos de hipoplasia cerebelar congênita observados em terneiros da raça Charolês, pertencentes a um estabelecimento localizado no município de Capão do Leão. Um dos animais apresentava sinais clínicos cerebelares ao nascimento, caracterizados por severa incoordenação motora, hipermetria e tremores de intenção, principalmente da cabeça e do pescoço. O outro animal não conseguia manter-se em estação e apresentava opistótono acentuado. As lesões macroscópicas caracterizaram-se por hipoplasia cerebelar, observando-se apenas remanescentes das regiões do flóculo e do paraflóculo cerebelares e uma cavidade preenchida por líquido e recoberta pelas leptomeninges, que estavam aderidas aos resquícios das folhas cerebelares. Ao corte do encéfalo, havia hidrocefalia discreta e a presença de cavidades císticas (porencefalia. São discutidas as possíveis etiologias, sugerindo-se a possibilidade de que a enfermidade tenha sido causada pelo vírus da diarréia viral bovina-doença das mucosas, apesar dos resultados negativos da imuno-histoquímica realizada em fragmentos do cerebelo dos animais doentes para detecção desse vírus.Two cases of cerebellar hypoplasia in Charolais calves from a herd of a farm located in the municipality of Capão do Leão, Southern Brazil are described. One calf with cerebellar clinical signs at birth, showed incoordination, hypermetria and intention tremors, mainly in the neck and head. The other calf was recumbent with opisthotonos. The gross lesions were characterized by cerebellar hypoplasia, with only remnants of cerebellar floculus and parafloculus and an expanded fluid-filled space covered by leptomeninges. Mild hydrocephalus and porencephaly were observed in the cerebrum. It was discussed the possible etiologies and suggested the possibility of the disease has been caused by bovine viral diarrhea-mucosal disease (BVD-MD virus despite of negative results of imuno

  14. Pulmonary thromboembolism in cats.

    Science.gov (United States)

    Schermerhorn, Thomas; Pembleton-Corbett, Julie R; Kornreich, Bruce

    2004-01-01

    Pulmonary thromboembolism (PTE) is rarely diagnosed in cats, and the clinical features of the disease are not well known. PTE was diagnosed at postmortem examination in 17 cats, a prevalence of 0.06% over a 24-year period. The age of affected cats ranged from 10 months to 18 years, although young (10 years) cats were more commonly affected than were middle-aged cats. Males and females were equally affected. The majority of cats with PTE (n = 16) had concurrent disease, which was often severe. The most common diseases identified in association with PTE were neoplasia, anemia of unidentified cause, and pancreatitis. Cats with glomerulonephritis, encephalitis, pneumonia, heart disease, and hepatic lipidosis were also represented in this study. Most cats with PTE demonstrated dyspnea and respiratory distress before death or euthanasia, but PTE was not recognized ante mortem in any cat studied. In conclusion, PTE can affect cats of any age and is associated with a variety of systemic and inflammatory disorders. It is recommended that the same clinical criteria used to increase the suspicion of PTE in dogs should also be applied to cats. PMID:15320593

  15. Chronic obstructive pulmonary disease.

    Science.gov (United States)

    Barnes, Peter J; Burney, Peter G J; Silverman, Edwin K; Celli, Bartolome R; Vestbo, Jørgen; Wedzicha, Jadwiga A; Wouters, Emiel F M

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) is a common disease with high global morbidity and mortality. COPD is characterized by poorly reversible airway obstruction, which is confirmed by spirometry, and includes obstruction of the small airways (chronic obstructive bronchiolitis) and emphysema, which lead to air trapping and shortness of breath in response to physical exertion. The most common risk factor for the development of COPD is cigarette smoking, but other environmental factors, such as exposure to indoor air pollutants - especially in developing countries - might influence COPD risk. Not all smokers develop COPD and the reasons for disease susceptibility in these individuals have not been fully elucidated. Although the mechanisms underlying COPD remain poorly understood, the disease is associated with chronic inflammation that is usually corticosteroid resistant. In addition, COPD involves accelerated ageing of the lungs and an abnormal repair mechanism that might be driven by oxidative stress. Acute exacerbations, which are mainly triggered by viral or bacterial infections, are important as they are linked to a poor prognosis. The mainstay of the management of stable disease is the use of inhaled long-acting bronchodilators, whereas corticosteroids are beneficial primarily in patients who have coexisting features of asthma, such as eosinophilic inflammation and more reversibility of airway obstruction. Apart from smoking cessation, no treatments reduce disease progression. More research is needed to better understand disease mechanisms and to develop new treatments that reduce disease activity and progression. PMID:27189863

  16. Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Sandeep M Patel

    2012-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a disease of alveolar accumulation of phospholipoproteinaceous material that results in gas exchange impairment leading to dyspnea and alveolar infiltrates. There are three forms of PAP: congenital, acquired and idiopathic; of which the latter two are predominant in the adult population. Previous case studies have found that the acquired form can be secondary to various autoimmune, infectious, malignant and environmental etiologies. Recent advances in the understanding of the pathophysiology of PAP demonstrate that the idiopathic form is due to antigranulocyte macrophage-colony stimulating factor antibodies. Therapeutic targets that replace granulocyte macrophage colony stimulating factor or remove these antibodies are being actively developed. The current standard of care is to perform whole lung lavage on these patients to clear the alveolar space to help improve respiratory physiology. A case of PAP is reported, followed by a literature review on the diagnosis and management of this rare condition with the aim of increasing awareness among physicians when treating patients who present with alveolar infiltrates.

  17. REACTIVE OXYGEN AND NITROGEN SPECIES IN PULMONARY HYPERTENSION

    OpenAIRE

    Tabima, Diana M.; Frizzell, Sheila; Gladwin, Mark T.

    2012-01-01

    Pulmonary vascular disease can be defined as either a disease affecting the pulmonary capillaries and pulmonary arterioles, termed pulmonary arterial hypertension, or as a disease affecting the left ventricle, called pulmonary venous hypertension. Pulmonary arterial hypertension (PAH) is a disorder of the pulmonary circulation characterized by endothelial dysfunction, as well as intimal and smooth muscle proliferation. Progressive increases in pulmonary vascular resistance and pressure impair...

  18. Managing chronic thromboembolic pulmonary hypertension: pharmacological treatment options

    OpenAIRE

    I.M. Lang

    2009-01-01

    Chronic thromboembolic pulmonary hypertension (CTEPH) is a life-threatening condition in which organised thrombi obstruct the pulmonary vessels, causing increased pulmonary vascular resistance, progressive pulmonary hypertension (PH) and right heart failure. The treatment of choice is pulmonary endarterectomy, which restores pulmonary haemodynamics with acceptable periprocedural mortality rates in the majority of suitable patients. However, CTEPH may be inoperable owing to surgically inaccess...

  19. Aerobic exercise in pulmonary rehabilitation

    Directory of Open Access Journals (Sweden)

    Thiago Brasileiro de Vasconcelos

    2013-01-01

    Full Text Available The aim of this study was to conduct a literature review on the usefulness of aerobic exercise in pulmonary rehabilitation. This is an exploratory study of literature through the electronic databases Medline, Lilacs, Scielo, Pubmed and Google Scholar, published between 1996 and 2012, conducted during the period February to May 2012 with the following keywords: COPD, pulmonary rehabilitation, aerobic exercises, physical training, quality of life. The change in pulmonary function and dysfunction of skeletal muscles that result in exercise intolerance and reduced fitness and may cause social isolation, depression, anxiety and addiction. The training exercise is the most important component of the program of pulmonary rehabilitation where the aerobic training provides consistent results in clinical improvement in levels of exercise tolerance and decreased dyspnea generating more benefits to the body, reducing the chance of cardiovascular disease and improves quality and expectation of life. We demonstrated that the use of aerobic exercise in pulmonary rehabilitation program, allows an improvement of motor skills, decreased muscle fatigue and deconditioning, reducing sedentary lifestyle; however, has little or no effect on the reduction of strength and atrophy muscle.

  20. Pulmonary agenesis and pulmonary sling anomaly in an infant with Down syndrome.

    Science.gov (United States)

    Takci, S; Yigit, S; Haliloglu, M; Boduroglu, K; Kiper, N

    2013-01-01

    Pulmonary agenesis is a rare congenital anomaly presenting with normal karyotype in most of the cases. Rarely pulmonary agenesis is associated with chromosomal abnormalities and other genetic disorders such as Oculo-auriculo-vertebral spectrum, VACTERL association and velo-cardio-facial syndrome. This report presents a patient with pulmonary agenesis, pulmonary sling anomaly and Down syndrome. PMID:24341150

  1. Pulmonary arterial lesions in explanted lungs after transplantation correlate with severity of pulmonary hypertension in chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Carlsen, Jørn; Hasseriis Andersen, Kasper; Boesgaard, Søren;

    2013-01-01

    BACKGROUND: Pulmonary vascular findings are largely unreported in end-stage chronic obstructive pulmonary disease (COPD). METHODS: Pulmonary vascular lesions in explanted lungs from 70 patients with COPD/emphysema or α-1-antitrypsin deficiency were analyzed retrospectively. Patients were stratified...

  2. Answers about Lung Transplantation for Pulmonary Hypertension

    Science.gov (United States)

    ... the page. Answers about Lung Transplantation for PULMONARY HYPERTENSION Part One: Overview From the development of epoprostenol ... decades, expansion of medical treatment of pulmonary arterial hypertension (PAH) has improved survival and quality of life ...

  3. Acute pulmonary embolism following air travel

    OpenAIRE

    Ledermann, J. A.; Keshavarzian, Ali

    1983-01-01

    Three cases of pulmonary embolism following long air flight are described. There was no previous history of venous disease. The symptoms were transient in one and severe in two. The occurrence of pulmonary embolism immediately after air travel is emphasized.

  4. Genetics Home Reference: idiopathic pulmonary fibrosis

    Science.gov (United States)

    ... idiopathic pulmonary fibrosis. N Engl J Med. 2007 Mar 29;356(13):1317-26. Citation on PubMed ... PJ, Garcia CK. Effect of telomere length on survival in patients with idiopathic pulmonary fibrosis: an observational ...

  5. Hereditary Hemorrhagic Telangiectasia (HHT) and Pulmonary Hypertension

    Science.gov (United States)

    Hereditary Hemorrhagic Telangiectasia (HHT) Pulmonary & PH Hypertension Did you know that if you have HHT, you are at risk for pulmonary ... options for patients in the future. Hereditary Hemorrhagic Telangiectasia-Associated PH, or HHT-Associated PH My doctor ...

  6. Peripheral airway obstruction in primary pulmonary hypertension

    OpenAIRE

    Meyer, F; Ewert, R.; Hoeper, M; Olschewski, H.; Behr, J.; Winkler, J.; Wilkens, H.; Breuer, C.; Kubler, W; Borst, M

    2002-01-01

    Background: As there is controversy about changes in lung function in primary pulmonary hypertension (PPH), lung mechanics were assessed with a focus on expiratory airflow in relation to pulmonary haemodynamics.

  7. Chronic Obstructive Pulmonary Disease in Women

    Directory of Open Access Journals (Sweden)

    Louis Laviolette

    2007-01-01

    Full Text Available BACKGROUND: Little is known about the comparative impact of chronic obstructive pulmonary disease (COPD between women and men and about women’s response to pulmonary rehabilitation.

  8. Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study.

    Directory of Open Access Journals (Sweden)

    Filipa Bernardino

    Full Text Available Cerebellar malformations can be inherited or caused by insults during cerebellar development. To date, only sporadic cases of cerebellar malformations have been reported in dogs, and the genetic background has remained obscure. Therefore, this study`s objective was to describe the clinical characteristics, imaging features and pedigree data of a familial cerebellar hypoplasia in purebred Eurasier dogs. A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5-6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior fossa resembled a Dandy-Walker-like malformation in some dogs. Pedigree analyses were consistent with autosomal recessive inheritance.

  9. Skeletal muscle characterization of Japanese quail line selectively bred for lower body weight as an avian model of delayed muscle growth with hypoplasia.

    Science.gov (United States)

    Choi, Young Min; Suh, Yeunsu; Shin, Sangsu; Lee, Kichoon

    2014-01-01

    This study was designed to extensively characterize the skeletal muscle development in the low weight (LW) quail selected from random bred control (RBC) Japanese quail in order to provide a new avian model of impaired and delayed growth in physically normal animals. The LW line had smaller embryo and body weights than the RBC line in all age groups (Pmuscle (PM), mainly resulting from lower fiber numbers compared to the RBC line (Pgrowth with prolonged expression of Pax7 and lower expression levels of MyoD, Myf-5, and myogenin (Pmuscle fiber formation. Additionally, the LW line had delayed transition of neonatal to adult myosin heavy chain isoform, suggesting delayed muscle maturation. This is further supported by the finding that the LW line continued to grow unlike the RBC line; difference in the percentages of PMW to body weights between both quail lines diminished with increasing age from 42 to 75 d post-hatch. This delayed muscle growth in the LW line is accompanied by higher levels of myogenin expression at 42 d (Pmuscle development of the LW quail line provided a well-characterized avian model for future identification of the responsible genes and for studying mechanisms of hypoplasia and delayed muscle growth.

  10. Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study.

    Science.gov (United States)

    Bernardino, Filipa; Rentmeister, Kai; Schmidt, Martin J; Bruehschwein, Andreas; Matiasek, Kaspar; Matiasek, Lara A; Lauda, Alexander; Schoon, Heinz A; Fischer, Andrea

    2015-01-01

    Cerebellar malformations can be inherited or caused by insults during cerebellar development. To date, only sporadic cases of cerebellar malformations have been reported in dogs, and the genetic background has remained obscure. Therefore, this study`s objective was to describe the clinical characteristics, imaging features and pedigree data of a familial cerebellar hypoplasia in purebred Eurasier dogs. A uniform cerebellar malformation characterized by consistent absence of the caudal portions of the cerebellar vermis and, to a lesser degree, the caudal portions of the cerebellar hemispheres in association with large retrocerebellar fluid accumulations was recognized in 14 closely related Eurasier dogs. Hydrocephalus was an additional feature in some dogs. All dogs displayed non-progressive ataxia, which had already been noted when the dogs were 5-6 weeks old. The severity of the ataxia varied between dogs, from mild truncal sway, subtle dysmetric gait, dysequilibrium and pelvic limb ataxia to severe cerebellar ataxia in puppies and episodic falling or rolling. Follow-up examinations in adult dogs showed improvement of the cerebellar ataxia and a still absent menace response. Epileptic seizures occurred in some dogs. The association of partial vermis agenesis with an enlarged fourth ventricle and an enlarged caudal (posterior) fossa resembled a Dandy-Walker-like malformation in some dogs. Pedigree analyses were consistent with autosomal recessive inheritance. PMID:25668516

  11. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

    Science.gov (United States)

    Yahyavi, Mani; Abouzeid, Hana; Gawdat, Ghada; de Preux, Anne-Sophie; Xiao, Tong; Bardakjian, Tanya; Schneider, Adele; Choi, Alex; Jorgenson, Eric; Baier, Herwig; El Sada, Mohamad; Schorderet, Daniel F; Slavotinek, Anne M

    2013-08-15

    The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.

  12. A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23

    Directory of Open Access Journals (Sweden)

    Fatih Bayrakli

    2014-01-01

    Full Text Available Background: Cerebellar hypoplasia (CH is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms. Differential diagnosis and categorization of the recessive cerebellar ataxias, however, need more specific, biochemical and genetic investigation. Methods: This study applied whole-genome linkage analysis to study a family with nonprogressive cerebellar ataxia and additional mental retardation, epilepsy, and facial dysmorphic features. Genotyping and linkage analysis was done using the GeneChip Mapping 250K NspI Array (Affymetrix Inc., Santa Clara, Calif., USA for genome-wide linkage analysis of the genotyping data from the affected children and their parents. Results: Allegro software version 1.2 was used for multipoint linkage analysis. We assumed an autosomal recessive inheritance pattern and assigned a penetrance of 0.999. Single-nucleotide polymorphism allele frequencies were estimated from the Affymetrix data of the Caucasian family studied. Using these parameters, a theoretical maximum logarithm of the odds score of 2.69 was identified at chromosome 20p11.21-q11.23. Conclusions: This chromosomal locus is unprecedented in autosomal recessive and nonprogressive ataxia disorder. Further investigation might reveal a new causative gene generating the CH phenotype.

  13. Diurnal Variations in Human Pulmonary Function

    OpenAIRE

    Medarov, Boris I.; Pavlov, Valentin A.; Rossoff, Leonard

    2008-01-01

    Pulmonary function has circadian modulations. Variations in human pulmonary function during the daytime hours (diurnal variations) remain to be well characterized. Discerning these variations will contribute to better understanding the relationship between biorhythms and lung physiology and to improving clinical management of pulmonary diseases. The aim of this study was to determine the magnitude of pulmonary function variability during the usual daytime hours in a population of patients ref...

  14. An Update on Pulmonary Arterial Hypertension

    OpenAIRE

    Wapner, Joanna; Matura, Lea Ann

    2015-01-01

    Pulmonary arterial hypertension (PAH) is a progressive disease that ultimately leads to right heart failure and death. PAH is defined as a mean pulmonary arterial pressure ≥ 25 mm Hg with a pulmonary capillary wedge pressure ≤ 15 mm Hg at rest. The diagnosis of PAH is one of exclusion; diagnostics include an extensive history, serology, chest radiograph, pulmonary function tests, ventilation/perfusion scan, transthoracic echocardiogram, and right heart catheterization. Treatment and care of p...

  15. Pulmonary hypertension in chronic interstitial lung diseases

    OpenAIRE

    Antonella Caminati; Roberto Cassandro; Sergio Harari

    2013-01-01

    Pulmonary hypertension (PH) is a common complication of interstitial lung diseases (ILDs), particularly in idiopathic pulmonary fibrosis and ILD associated with connective tissue disease. However, other lung diseases, such as combined pulmonary fibrosis and emphysema syndrome, pulmonary Langerhans cell histiocytosis, and lymphangioleiomyomatosis, may also include PH in their clinical manifestations. In all of these diseases, PH is associated with reduced exercise capacity and poor prognosis. ...

  16. CT "halo sign" in pulmonary tuberculoma.

    Science.gov (United States)

    Gaeta, M; Volta, S; Stroscio, S; Romeo, P; Pandolfo, I

    1992-01-01

    The CT halo sign has been described as the CT finding of a low-attenuation zone surrounding a pulmonary nodule. It is an early clue to the diagnosis of invasive pulmonary aspergillosis. We describe a case of CT halo sign associated with a pulmonary tuberculoma. Therefore, we think that a diagnosis other than invasive pulmonary aspergillosis should be considered in the presence of the CT halo sign in immunocompetent patients.

  17. How to Measure Peripheral Pulmonary Vascular Mechanics

    OpenAIRE

    Chesler, Naomi C; Argiento, Paola; Vanderpool, Rebecca; D’Alto, Michele; Naeije, Robert

    2009-01-01

    Pulmonary hypertension (PH) is initially a disease of the small, peripheral resistance arteries. Changes in these vessels are best assessed by measurement of pulmonary artery pressure at several levels of flow to generate multi-point pressure-flow curves. This approach is superior to the traditional single-point measurement of pulmonary vascular resistance (PVR) because it allows a flow-independent definition of the resistive properties of that portion of the pulmonary vascular bed and also p...

  18. HIF and pulmonary vascular responses to hypoxia

    OpenAIRE

    Shimoda, Larissa A.; Steven S Laurie

    2013-01-01

    In the lung, acute reductions in oxygen lead to hypoxic pulmonary vasoconstriction, whereas prolonged exposures to hypoxia result in sustained vasoconstriction, pulmonary vascular remodeling, and the development of pulmonary hypertension. Data from both human subjects and animal models implicate a role for hypoxia-inducible factors (HIFs), oxygen-sensitive transcription factors, in pulmonary vascular responses to both acute and chronic hypoxia. In this review, we discuss work from our laborat...

  19. Mechanisms of Dysfunction in Senescent Pulmonary Endothelium

    OpenAIRE

    Jane-wit, Daniel; Chun, Hyung J.

    2012-01-01

    Age-dependent changes in pulmonary endothelium contribute to worsened clinical outcomes in elderly individuals. Due to altered pulmonary endothelial responses, older participants have increased vulnerability to infection-related sequelae, higher prevalence of pulmonary hypertension, mitigated DNA repair mechanisms, and attenuated parenchymal healing. Aberrant signaling in pulmonary endothelium undergird these clinical processes. In this review, we provide an overview of the work that has eluc...

  20. Pulmonary alterations in Behcet's disease

    International Nuclear Information System (INIS)

    Purpose: This study aims to demonstrate pulmonary alterations (PA) in patients with Behcet's disease by using CT. Materials and methods: CTs of 50 patients with Behcet's disease and 20 others in a control group have been evaluated retrospectively for PA (septal, reticular, nodular, atelectatic opacities). Results: Eight out of 50 patients (16%) with Behcet's disease showed PA. Three out of 20 (15%) in the control group showed PA. No differences were observed between Behcet's disease patients and the control group regarding pulmonary alterations (p = 0.917). No differences were observed in the disease duration, ages and sex in either group in those with and without PA. Conclusion: Pulmonary alterations can be seen in patients with Behcet's disease, but these alterations are not significant.

  1. Pulmonary angiography with lopamidol 370

    International Nuclear Information System (INIS)

    Fifty-one consecutive patients who underwent pulmonary angiography with iopamidol, 370 mg/ml, were studied prospectively. Patients were asked to grade any heat or pain felt on injection, and were observed for coughing. Right atrial and pulmonary artery pressures were obtained before the first and after the final contrast agent injection. Pressure changes were compared with those in a consecutive group of 25 patients who underwent examinations performed with Na-meglumine diatrizoate, 370 mg/ml. Film quality was evaluated for patient motion. Iopamidol generated marked discomfort in only three patients. Pressure changes were largely unremarkable. In no case was there any significant motion artifact secondary to coughing. Iopamidol is a safe, well-tolerated contrast agent for pulmonary angiography. It improves image quality by nearly eliminating coughing

  2. Primary pulmonary neoplasms in children

    International Nuclear Information System (INIS)

    Primary pulmonary tumors are extremely uncommon in children, so individual experience in their medical management is limited. Our paper shows the manifestations, the diagnostic procedures used and the evolution of 17 patients that were assisted in our hospital through years 1991-2000. Radiology enables us to evaluate the presence of a pulmonary mass. US showed if it was solid, cystic or mixed and the presence or absence of pleural fluid. CT showed better the localization, extension and presence of metastasis, essential knowledge for planning and performing surgery. In a pediatric patient with a pulmonary mass and also in patients with spontaneous pneumothorax or hemo thorax a primary tumor must be considered as a possibility, and diagnostic procedures with US, CT and endoscopy performed. Congenital cystic lesions can become malignant, so they must always be treated by surgery. (author)

  3. Imaging findings in pulmonary vasculitis.

    Science.gov (United States)

    Castañer, Eva; Alguersuari, Anna; Andreu, Marta; Gallardo, Xavier; Spinu, Cristina; Mata, Josep M

    2012-12-01

    Vasculitis is a destructive inflammatory process affecting blood vessels. Pulmonary vasculitis may develop secondary to other conditions or constitute a primary idiopathic disorder. Thoracic involvement is most common in primary idiopathic large-vessel vasculitides (Takayasu arteritis, giant cell arteritis, Behçet disease) and primary antineutrophil cytoplasmic autoantibody-associated small-vessel vasculitides (Wegener granulomatosis, microscopic polyangiitis, Churg-Strauss syndrome). Primary pulmonary vasculitides are rare, and their signs and symptoms are nonspecific, overlapping with those of infections, connective tissue diseases, and malignancies. The radiologic findings in primary pulmonary vasculitis vary widely and can include vessel wall thickening, nodular or cavitary lesions, ground-glass opacities, and consolidations, among others. Diffuse alveolar hemorrhage usually results from primary small-vessel vasculitis in the lungs. To diagnose vasculitis, medical teams must recognize characteristic combinations of clinical, radiologic, laboratory, and histopathologic features. PMID:23168065

  4. [Pulmonary hemorrhage complicating transthoracic puncture].

    Science.gov (United States)

    Febvre, M; de Fenoyl, O; Capron, F; Vadrot, D; Rochemaure, J

    1989-01-01

    Fine needle transthoracic aspiration (FNTA) of pulmonary opacities under guidance of computerized tomography (CT) is a simple procedure yielding conclusive results in many patients with malignant lung tumours. The small caliber of the needles utilized and the CT control make this increasingly popular procedure both accurate and safe. Yet a number of complications have occurred; most of them were benign (e.g. pneumothorax) but some were potentially dangerous (e.g. pulmonary haemorrhage), so that the pros and cons of the procedure must carefully be weighed. We report the case of a patient in whom FNTA was complicated by copious haemoptysis and a pulmonary haematoma clearly visible at CT. The literature concerning the potential complications of transthoracic puncture is reviewed. PMID:2633295

  5. Pulmonary hypertension in antiphospholipid syndrome.

    Science.gov (United States)

    Zuily, Stéphane; Wahl, Denis

    2015-01-01

    Pulmonary hypertension (PH) is a rare but life-threatening condition in antiphospholipid syndrome (APS) patients with or without systemic lupus erythematosus (SLE). The definition of PH is based on hemodynamic parameters estimated by transthoracic echocardiography (TTE) and confirmed by right heart catheterization (RHC). New evidence suggests that antiphospholipid antibodies (aPL) in SLE patients increase the risk of PH; however, studies yield conflicting results. Hypotheses regarding the impact of aPL on PH include large vessel and microvascular thrombosis, and endothelial remodeling. Natural history of PH is progressive worsening mainly due to recurrent pulmonary embolism. The management in APS patients includes anticoagulation; patients undergoing pulmonary endarterectomy need to be closely monitored because of an increased risk of thrombotic complications. PMID:25604574

  6. Making pulmonary rehabilitation a success in COPD.

    Science.gov (United States)

    Bourbeau, J

    2010-01-01

    A truly successful pulmonary rehabilitation entails implementing physical activity maintenance. This article reviews the current knowledge on pulmonary rehabilitation and the expected benefits, the setting, the relationship between self-management and pulmonary rehabilitation, in order to develop and implement clinically-effective physical activity maintenance interventions. The effectiveness of pulmonary rehabilitation is well-established. However, access to pulmonary rehabilitation is limited. Home-based pulmonary rehabilitation has been shown to be an effective, equivalent alternative to outpatient pulmonary rehabilitation in COPD patients. The opportunity to offer different pulmonary rehabilitation settings tailored to individual needs should improve accessibility to this intervention. Sustained long-term physical activity remains the most important challenge for COPD patients. We need a dependable system of coordinated health care interventions and communication, and components that include self-management support. Self-management should be an integrated part of pulmonary rehabilitation and remain long after the pulmonary rehabilitation is completed. By early identification of patients who may have difficulty maintaining exercise and implementing appropriate self-management interventions during and after the rehabilitation program, it may be possible to promote better long-term involvement in physical activity. Pulmonary rehabilitation should not stand alone; the best program is that which can be maintained to translate into a continuous increase in the activities of daily living. Future research should evaluate the effect of self-management interventions combined with pulmonary rehabilitation to improve long-term activity and exercise maintenance. PMID:20809435

  7. Lutembacher Syndrome and Rheumatic Pulmonary Stenosis

    Institute of Scientific and Technical Information of China (English)

    Jufang Chi; Hangyuan Guo; Biao Yang

    2008-01-01

    We discdbed a case of a 55-yr-old woman diagnosed with Lutembacher syndrome and rheumatic pulmonary stenosis.Congenital atrial septal defect was found in age 7 and rheumatic fever in age 34.As the patient developed pulmonary hypertension with calcified mitral valve leaflet and pulmonary stenosis so surgery was not indicated.So the patient was managed by medical therapy alone.

  8. Pulmonary Hyalinizing Granuloma in HIV/AIDS

    Directory of Open Access Journals (Sweden)

    Theresa Liu

    2007-01-01

    Full Text Available A 55-year-old man who was recently diagnosed with HIV/AIDS developed multiple bilateral pulmonary nodules after starting highly active antiretroviral therapy. Workup confirmed the diagnosis of pulmonary hyalinizing granuloma. This is the first described case of pulmonary hyalinizing granuloma in HIV/AIDS, and may represent a rare form of immune reconstitution inflammatory syndrome.

  9. Pulmonary hyalinizing granuloma in HIV/AIDS.

    Science.gov (United States)

    Liu, Theresa; Kyrollos, Maggy; Kravcik, Stephen

    2007-09-01

    A 55-year-old man who was recently diagnosed with HIV/AIDS developed multiple bilateral pulmonary nodules after starting highly active antiretroviral therapy. Workup confirmed the diagnosis of pulmonary hyalinizing granuloma. This is the first described case of pulmonary hyalinizing granuloma in HIV/AIDS, and may represent a rare form of immune reconstitution inflammatory syndrome. PMID:18923729

  10. Pulmonary Hyalinizing Granuloma in HIV/AIDS

    OpenAIRE

    Theresa Liu; Maggy Kyrollos; Stephen Kravcik

    2007-01-01

    A 55-year-old man who was recently diagnosed with HIV/AIDS developed multiple bilateral pulmonary nodules after starting highly active antiretroviral therapy. Workup confirmed the diagnosis of pulmonary hyalinizing granuloma. This is the first described case of pulmonary hyalinizing granuloma in HIV/AIDS, and may represent a rare form of immune reconstitution inflammatory syndrome.

  11. Pulmonary hyalinizing granuloma mimicking lung carcinoma.

    Science.gov (United States)

    Basoglu, A; Findik, S; Celik, B; Yildiz, L

    2006-06-01

    Pulmonary hyalinizing granuloma has rarely been reported and is a benign entity of unknown origin. The chest radiograph reveals multiple and frequently bilateral pulmonary nodules. We describe a patient with pulmonary hyalinizing granuloma who presented with a central mass in the left lung mimicking lung carcinoma. PMID:16755455

  12. Pulmonary hyalinizing granuloma in HIV/AIDS

    Science.gov (United States)

    Liu, Theresa; Kyrollos, Maggy; Kravcik, Stephen

    2007-01-01

    A 55-year-old man who was recently diagnosed with HIV/AIDS developed multiple bilateral pulmonary nodules after starting highly active antiretroviral therapy. Workup confirmed the diagnosis of pulmonary hyalinizing granuloma. This is the first described case of pulmonary hyalinizing granuloma in HIV/AIDS, and may represent a rare form of immune reconstitution inflammatory syndrome. PMID:18923729

  13. Nitric oxide treatment for fulminant pulmonary hypertension.

    OpenAIRE

    Allman, K G; Young, J D; Stevens, J E; Archer, L N

    1993-01-01

    A 3 year old child with known pulmonary haemosiderosis suffered acute circulatory collapse secondary to raised pulmonary vascular resistance. Nitric oxide inhalation produced a profound improvement in circulatory parameters and gaseous exchange. Nitric oxide may have a therapeutic role in acute pulmonary hypertensive crisis.

  14. High altitude pulmonary edema: case report

    International Nuclear Information System (INIS)

    Acute pulmonary edema is characterized by the accumulation of liquid in the pulmonary interstice, the alveoli, the bronchi and bronchioles; it is from the excessive circulation from the pulmonary vascular system towards extra vascular and the respiratory spaces. The Liquid filters first at the interstitial space to soon perivascular and peri bronchial and, gradually, towards the alveoli and bronchi

  15. Chronic Thromboembolic Pulmonary Hypertension after Pulmonary Embolism, Thrombolysis, Catheter Fragmentation, and Embolectomy

    OpenAIRE

    Wiedenroth, Christoph B.; Guth, Stefan; Rolf, Andreas; Mayer, Eckhard

    2014-01-01

    A 21-year-old male patient with massive acute pulmonary embolism was treated by thrombolysis, interventional thrombus fragmentation, and surgical pulmonary embolectomy. Within the following 2 years, the patient developed progressive dyspnea at exertion. Chronic thromboembolic pulmonary hypertension was diagnosed by right-heart catheter, VQ scan, magnetic resonance, and conventional pulmonary angiography. A normalization of the patient's exercise capacity and pulmonary hemodynamics could be ac...

  16. Pulmonary capillary blood volume in patients with probable pulmonary Kaposi's sarcoma.

    OpenAIRE

    Camus, F.; de Picciotto, C.; Gerbe, J; S Roy; Bouchaud, O.; E. Casalino; Perronne, C

    1996-01-01

    BACKGROUND: An increase in pulmonary capillary blood volume secondary to angiogenesis has been described in Kaposi's sarcoma. The value of the pulmonary capillary blood volume as an early marker of pulmonary Kaposi's sarcoma was evaluated. METHODS: In a prospective study 45 HIV positive patients (nine asymptomatic for Kaposi's sarcoma, 29 with cutaneous or mucocutaneous Kaposi's sarcoma, and seven with pulmonary Kaposi's sarcoma), underwent pulmonary function tests and determination of transf...

  17. Acute effects of riociguat in borderline or manifest pulmonary hypertension associated with chronic obstructive pulmonary disease

    OpenAIRE

    Ghofrani, Hossein A.; Staehler, Gerd; Grünig, Ekkehard; Halank, Michael; Mitrovic, Veselin; Unger, Sigrun; Mueck, Wolfgang; Frey, Reiner; Grimminger, Friedrich; Ralph T. Schermuly; Behr, Juergen

    2015-01-01

    Riociguat is the first oral soluble guanylate cyclase stimulator shown to improve pulmonary hemodynamics in patients with pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension (PH). This pilot study assessed the impact of a single dose of riociguat on hemodynamics, gas exchange, and lung function in patients with PH associated with chronic obstructive pulmonary disease (COPD). Adults with COPD-associated borderline or manifest PH (pulmonary vascular resistance > 27...

  18. A case of left main pulmonary artery aneurysm associated with valvular pulmonary stenosis in a child.

    Science.gov (United States)

    Lee, Ran; Son, Jae Sung; Park, Yong Mean

    2011-10-01

    Aneurysm of the main pulmonary artery is a rare clinical entity that can be congenital or acquired. Most cases occur in association with other congenital malformations, severe pulmonary hypertension, vasculitides, infectious agents, or collagen vascular disorders. We report here a pediatric case of left pulmonary artery aneurysm associated with valvular pulmonary stenosis and a hypoplastic right pulmonary artery, which we confirmed via multidetector computed tomography angiography.

  19. Pulmonary vascular mechanics: Important contributors to the increased right ventricular afterload of pulmonary hypertension

    OpenAIRE

    Wang, Zhijie; Chesler, Naomi C

    2013-01-01

    Chronic hypoxia causes pulmonary vasoconstriction and vascular remodeling, which lead to hypoxic pulmonary hypertension (HPH). HPH is associated with living at high altitudes and is a complication of many lung diseases, including chronic obstructive pulmonary disease, cystic fibrosis, and obstructive sleep apnea. Pulmonary vascular changes that occur with HPH include stiffening and narrowing of the pulmonary arteries that appear to involve all vascular cell types and sub-layers of the arteria...

  20. Pulmonary vascular wall stiffness: An important contributor to the increased right ventricular afterload with pulmonary hypertension

    OpenAIRE

    Wang, Zhijie; Chesler, Naomi C

    2011-01-01

    Pulmonary hypertension (PH) is associated with structural and mechanical changes in the pulmonary vascular bed that increase right ventricular (RV) afterload. These changes, characterized by narrowing and stiffening, occur in both proximal and distal pulmonary arteries (PAs). An important consequence of arterial narrowing is increased pulmonary vascular resistance (PVR). Arterial stiffening, which can occur in both the proximal and distal pulmonary arteries, is an important index of disease p...

  1. Pulmonary Complications due to Esophagectomy

    Directory of Open Access Journals (Sweden)

    Yashar Talebi

    2011-08-01

    Full Text Available Introduction: Esophageal carcinoma is the scourge of human beings. Pulmonary compli-cations in patients who have undergone operation are common (20-30% of cases and there are no suitable tools and ways to predict these complications. Methods: During a period of 10 years, from March 1998 to February 2007, 200 patients (150 male and 50 female underwent Esophagectomy due to esophageal carcinoma in thoracic surgery ward retrospectively. Complications include the length of hospitalization, mechanical ventilation, morbidity and mortality. Patients’ risk factors include age, preoperative chemo-radiotherapy, stage of the disease and preoperative spirometry condition. Results: We grouped our patients into three categories: Normal (FEV1 ≥ 80% predicted, mildly impaired (FEV1 65% to 79% predicted, more severely impaired (FEV1 < 65% predicted.Although almost all patients had radiographic pulmonary abnormalities, significant pulmonary complications occurred in 40 patients (20% which underwent Esophagectomy. Pleural effusion and atelectasia in 160 patients (80%. 24 patients needed chest-tube insertion. 20 patients (10% developed ARDS. 14 patients (7% developed chylothorax. 20 patients (10% of patients died during their postoperative hospital stay. 30 patients (15% required mechanical ventilation for greater than 48 hours. Conclusion: We reviewed a number of preoperative clinical variables to determine whether they contributed to postoperative pulmonary complications as well as other outcomes. In general, age, impaired pulmonary function especially in those patients with FEV1 less than 65% predicted was associated with prolonged hospital length of stay (LOS. In fact pulmonary complications rate after Esophagectomy are high and there was associated mortality and morbidity.

  2. Program organization in pulmonary rehabilitation.

    Science.gov (United States)

    Garvey, Chris; Carlin, Brian; Raskin, Jonathan

    2014-06-01

    Variable aspects of pulmonary rehabilitation (PR) programs include staff composition, setting, structure, and duration. Longer PR programs generally translate into greater improvements in outcomes and (perhaps) prolonged maintenance of benefits. Barriers to PR include transportation issues, inconvenience for the patient, cost and insurance coverage problems, lack of perceived benefit, concurrent illness, and influence of the provider. PR settings include inpatient and outpatient environments. PR has been shown to improve health care utilization during or immediately following chronic obstructive pulmonary disease exacerbations. Challenges to providing PR may be partially addressed by technological developments.

  3. [Special beds. Pulmonary therapy system].

    Science.gov (United States)

    Calixto Rodríguez, Joaquín; Rodríguez Martínez, Xavier; Marín i Vivó, Gemma; Paunellas Albert, Josep

    2008-10-01

    To be bedridden reduces one's capacity to move and produces muscular debility that affects the respiratory system leading to a decreased effectiveness in expectoration, the ability to spit up sputum. The pulmonary therapy system integrated in a bed is the result of applying motorized elements to the articulation points of the bad in order to achieve safe positions at therapeutic angles, which improve the breathing-perfusion (blood flow) relationship. This system also makes it possible to apply vibration waves to the patient which favor the elimination of bronchial-pulmonary secretions, the rehabilitation of the bedridden patient and decrease the work load for nursing personnel.

  4. Pulmonary complications of cystic fibrosis

    International Nuclear Information System (INIS)

    The life expectancy of patients with cystic fibrosis (CF) has steadily increased over recent decades with a corresponding increase in the frequency of complications of the disease. Radiologists are increasingly involved with managing and identifying the pulmonary complications of CF. This article reviews the common manifestations of CF lung disease as well as updating radiologists with a number of less well-known complications of the condition. Early and accurate detection of the pulmonary effects of CF are increasingly important to prevent irreversible lung damage and give patients the greatest possibility of benefiting from the new therapies becoming available, which correct the underlying defect causing CF

  5. Reexpansion pulmonary edema following thoracentesis

    Directory of Open Access Journals (Sweden)

    Ansuman Mukhopadhyay

    2016-01-01

    Full Text Available Reexpansion pulmonary edema is an uncommon complication of the treatment of lung atelectasis, pleural effusion or pneumothorax and pathogenesis is unknown. An elderly male patient presented to us with right-sided pleural effusion. 2 h after thoracentesis, he felt chest discomfort and increased breathlessness. His chest examination showed right-sided crackles. Chest radiograph showed right-sided heterogeneous opacity in right lower zone consistent with unilateral pulmonary edema. He was managed conservatively along with bilevel positive airway pressure ventilator support. His condition improved gradually and was discharged successfully after 2 days.

  6. Contribution of live heartworms harboring in pulmonary arteries to pulmonary hypertension in dogs with dirofilariasis.

    Science.gov (United States)

    Kitagawa, H; Sasaki, Y; Ishihara, K; Hirano, Y

    1990-12-01

    To investigate whether adult heartworms harboring in the pulmonary arteries contribute to pulmonary hypertension, we determined the cardio-pulmonary values immediately before and after removal of heartworms from the pulmonary arteries and before and after insertion of live worms in their place. In 10 heartworm-infected dogs, 8 to 46 worms were removed. The mean pulmonary arterial pressure fell significantly from 24.5 +/- 7.9 mmHg to 16.3 +/- 4.9 mmHg (p less than 0.01) immediately after removal. The right cardiac output decreased in 7 of the 10 cases. The total pulmonary resistance and right ventricular stroke work index also decreased. At 24 hours after removal, live heartworms were put back into the pulmonary arteries of their host dog. The mean pulmonary arterial pressure elevated significantly (p less than 0.01) immediately after insertion. The right cardiac output further decreased in 7 of the 10 dogs, and the total pulmonary resistance and right ventricular stroke work index increased. Separate from this, 12 to 42 heartworms were transplanted into the pulmonary arteries of 5 heartworm-free dogs. Immediately after transplantation, the pulmonary arterial pressure did not show any significant change. However, the stroke volume decreased, and the total pulmonary resistance increased. These facts suggest a contribution of live heartworms to the pulmonary hypertension, although there is a complicated interaction among the presence of heartworms, the pulmonary lesions and the pulmonary hypertension. PMID:2287128

  7. Pulmonary embolism and pulmonary infarction; Lungenembolie und Lungeninfarkt - pathologische Anatomie

    Energy Technology Data Exchange (ETDEWEB)

    Mueller, K.M.; Mueller, A.M. [Berufsgenossenschaftliche Kliniken Bergmannsheil, Bochum (Germany). Inst. fuer Pathologie]|[Bochum Univ. (Germany). Universitaetsklinikum

    1998-03-01

    Radiological and nuclear medical evaluation of pulmonary embolisms and their consequences is often problematic, since parenchymal alterations in the form of possible pulmonary infarctions occur in only 10-15% after vessel obliteration. Small embolisms rather frequently cause hemorrhagic pulmonary infarctions, which can clinically be demonstrated by radiological and nuclear medical methods, after obliteration of the pre-capillary arterio-arterial anastomoses type I. In pre-existing chronic lung diseases with often markedly developed bronchial artery systems and additional anastomoses hemorrhagic pulmonary infarctions are extremely rare. Thus, today, radiological and nuclear medical studies, such as spiral computer scanning, have to rely largely on the results of thrombembolic vessel obstruction and transitory perfusion deficits and less on parenchymal infiltration patterns. (orig./MG) [Deutsch] Die radiologischen und nuklearmedizinischen Begutachtungen von Lungenembolien und deren Folgen sind oft problematisch, weil Parenchymveraenderungen in Form moeglicher Lungeninfarkte in nur 10-15% nach der Gefaessverlegung entstehen. Kleine Embolien fuehren haeufiger zu haemorrhagischen Lungeninfarkten, die mit radiologischen und nukelarmedizinischen Verfahren fassbar werden. Bei vorbestehenden chronischen Lungenerkrankungen mit meist verstaerkt ausgebautem Bronchialartheriensystem und zusaetzlichen Anatomosen sind haemorrhagische Lungeninfarkte besonders selten. Die radiologische und nuklearmedizinische Diagnostik muss sich daher heute nach vielversprechenden Studien, z.B. unter Einsatz der Spiralcomputertomographie, wesentlich auf die Befunde der thrombembolischen Gefaessobstruktion und transitorische Perfusionsausfaelle und weniger auf parenchymatoese Infiltratmuster stuetzen. (orig./MG)

  8. SERIES "NOVELTIES IN PULMONARY REHABILITATION" New tools in pulmonary rehabilitation

    NARCIS (Netherlands)

    Wijkstra, P. J.; Wempe, J. B.

    2011-01-01

    In patients with more severe chronic obstructive pulmonary disease ( COPD), the benefits of rehabilitation might not be clear and, therefore, new treatment options have been developed to increase the benefits of rehabilitation. This review provides an overview of new approaches being developed as an

  9. Pulmonary tissue volume in dogs during pulmonary edema.

    Science.gov (United States)

    Peterson, B T; Petrini, M F; Hyde, R W; Schreiner, B F

    1978-05-01

    Pulmonary tissue volume (Vt) and pulmonary capillary blood flow (Qc) were measured in anesthetized dogs by analyzing end-expiratory concentrations of dimethyl ether (DME), acetylene (C2H2), and sulfur hexafluoride during a 30-s rebreathing maneuver. Vt was compared to the postmortem lung weight of control dogs and dogs with hemodynamic and nonhemodynamic (alloxan) pulmonary edema. Qc was compared to the cardiac output measured by dye dilution. A 100-ml increase in alveolar volume (VA) in the range of 1-2 liters resulted in a 9 +/- 3 ml increase in Vt. Vt measured at a VA of 1.9 liters measures 114 +/- 18% of the postmortem lung weight in 20 control dogs and in 6 dogs with moderate edema (lung weight smae mean values of Vt, but the reproducibility of a series of 3-7 measurements was greater with DME (coefficient of variation was 5% with DME and 8% C2H2). Qc measured 96 +/ 15% of the cardiac output during the rebreathing maneuver, but the maneuver caused a 4-40% fall in the cardiac output. These data show that Vt determined by rebreathing DME is between 86% and 135% of the lung weight in dogs with pulmonary edema until the lung weight is greater than 250% of the predicted value.

  10. Acute exacerbations and pulmonary hypertension in advanced idiopathic pulmonary fibrosis.

    LENUS (Irish Health Repository)

    Judge, Eoin P

    2012-07-01

    The aim of this study was to evaluate the risk factors for and outcomes of acute exacerbations in patients with advanced idiopathic pulmonary fibrosis (IPF), and to examine the relationship between disease severity and neovascularisation in explanted IPF lung tissue. 55 IPF patients assessed for lung transplantation were divided into acute (n=27) and non-acute exacerbation (n=28) groups. Haemodynamic data was collected at baseline, at the time of acute exacerbation and at lung transplantation. Histological analysis and CD31 immunostaining to quantify microvessel density (MVD) was performed on the explanted lung tissue of 13 transplanted patients. Acute exacerbations were associated with increased mortality (p=0.0015). Pulmonary hypertension (PH) at baseline and acute exacerbations were associated with poor survival (p<0.01). PH at baseline was associated with a significant risk of acute exacerbations (HR 2.217, p=0.041). Neovascularisation (MVD) was significantly increased in areas of cellular fibrosis and significantly decreased in areas of honeycombing. There was a significant inverse correlation between mean pulmonary artery pressure and MVD in areas of honeycombing. Acute exacerbations were associated with significantly increased mortality in patients with advanced IPF. PH was associated with the subsequent development of an acute exacerbation and with poor survival. Neovascularisation was significantly decreased in areas of honeycombing, and was significantly inversely correlated with mean pulmonary arterial pressure in areas of honeycombing.

  11. Pulmonary embolism in adolescents

    Institute of Scientific and Technical Information of China (English)

    MA Qing-bian; YAO Wan-zhen; CHEN Jian-ming; GE Hong-xia; LI Shu; ZHENG Ya-an

    2012-01-01

    Background Pulmonary embolism (PE) is rare and seldom considered in adolescent patients; however it occurs with a greater frequency than is generally recognized,and it is a potentially fatal condition.The aim of the current study was to understand its epidemiology,clinical features and the cause of delay of its diagnosis in adolescents.Methods A retrospective analysis of nine adolescents with acute PE admitted to the Peking University Third Hospital over the past 16-year period was performed.The epidemiology,clinical features and risk factors of the adolescents were described and compared with those of adults and elderly patients.The time to diagnosis and misdiagnosed diseases were analyzed.Pretest probability of PE was assessed retrospectively by the Wells score and revised Geneva score.Results The incidence of PE was 43.6 per 100 000 hospitalized adolescents in our hospital.The incidence of PE in adolescents was much lower than that in adults and PE is diagnosed in about 1/50 of elderly people.The clinical features in adolescents were similar to those in adults.But fever and chest pain were more common in adolescents (P<0.05).The major risk factors included surgery,systemic lupus erythematosus (SLE),thrombocytopenia,long-term oral glucocorticoids and trauma.The mean diagnostic time was (7.8±8.4) days.Six cases had a delayed diagnosis.The mean delay time from symptom onset to diagnosis was (11.0±8.8) days.The time of presentation to diagnosis in patients initially admitted to the emergency department was less than one day,and was much shorter than the time in outpatients,(9.4±7.5) days.Most of the patients were initially misdiagnosed with a respiratory tract infection.Most patients' values of Wells score or revised Geneva score were in the moderate or high clinical probability categories; 88% by Well score vs.100% by revised Geneva score.Conclusions PE was seldom considered in the adolescent patients by physicians,especially outpatient physicians,so the

  12. An unusual case of pulmonary embolism.

    Science.gov (United States)

    Khakural, Prabhat; Shrestha, Kajan R; Sapkota, Ranjan; Shrestha, Uttam K

    2015-01-01

    Pulmonary embolism carries a significant morbidity and mortality. Metastatic choriocarcinoma presenting as pulmonary embolism is a rare event. Here, we report a case of a 25-year-lady with a history of worsening shortness of breath for 4 months who was treated as a case of pneumonia and tuberculosis. Owing to the worsening condition, she had a contrast enhanced computed tomography (CECT) chest done and was diagnosed to have pulmonary embolism. She underwent pulmonary embolectomy. The histopathological examination of the embolus revealed it to be metastatic choriocarcinoma. She showed a good response to chemotherapy. Metastatic choriocarcinoma should be considered as a differential diagnosis in females presenting with pulmonary embolism. PMID:25687445

  13. Pulmonary rehabilitation: definition, concept, and history.

    Science.gov (United States)

    Nici, Linda; ZuWallack, Richard L

    2014-06-01

    Pulmonary rehabilitation is a complex intervention for which it is difficult to craft a succinct yet inclusive definition. Pulmonary rehabilitation should be considered for all patients with chronic obstructive pulmonary disease (COPD) who remain symptomatic or have decreased functional status despite otherwise optimal medical management. The essential components of pulmonary rehabilitation are exercise training and self-management education, tailored to the needs of the individual patient and integrated into the course of the disease trajectory. Emerging data support a role for pulmonary rehabilitation in nontraditional contexts, such as during exacerbation in the non-COPD patient and in the home setting.

  14. Analysis of perfusion defects by causes other than acute pulmonary thromboembolism on contrast-enhanced dual-energy CT in consecutive 537 patients

    International Nuclear Information System (INIS)

    Objective: To assess causes, incidence and patterns of perfusion defects (PDs) on dual-energy perfusion CT angiography (DECTA) in clinically suspected acute pulmonary thromboembolisms (PTE). Materials and methods: Consecutive 537 patients who underwent DECTA for suspicion of PTE were retrospectively reviewed. After excluding patients with possible PTE or unsatisfactory perfusion map quality, 299 patients with 1697 lobes were included. The DECTA (Somatom Definition, Siemens) was performed at 140 kV and 80 kV. Color-coded perfusion images were obtained with a lung PBV application of the workstation software (Syngo Dual Energy). The presence, incidence, three patterns of PDs (wedge-shaped, heterogeneous, and regionally homogeneous), pulmonary diseases, and the matchedness between the PD and the disease extent were studied. Results: 315 of 1697 lobes (18.6%) in 156 of 299 patients (81.3%) showed PDs. Among them, 51 (3%), 257 (15.1%), and 7 (0.4%) lobes had PDs due to vascular, nonvascular, and unidentifiable causes, respectively. Vascular causes include: pulmonary arterial (PA) hypertension (0.7%), extrinsic occlusion of PA by fibrosis (0.6%), PA hypoplasia (0.6%), vasculitis (0.5%), cancer mass compressing PA, venous occlusion, AVM, and pulmonary angiosarcoma. Most of PDs were wedge-shaped and well-matched. Nonvascular causes include: mosaic attenuation (4.1%), emphysema (3.2%), interstitial fibrosis (1.6%), bronchitis (1.4%), GGO (1.2%), cellular bronchiolitis (1%), bronchiectasis, airway obstruction, compensaroty lung hyperinflation, air trapping, cor-pulmonale, bronchopneumonia, physiologic decreased ventilation, and segmental bronchial atresia. Most of PDs showed heterogeneous pattern and were not matched. Conclusions: Various vascular and nonvascular diseases cause PDs on DECTA. Each disease shows different pattern of PD depending on pathophysiology and physiologic compensation.

  15. How Is Pulmonary Embolism Diagnosed?

    Science.gov (United States)

    ... are available shortly after the scan is done. Lung Ventilation/Perfusion Scan A lung ventilation/perfusion scan , or VQ scan, uses a radioactive substance to show how well oxygen and blood are flowing to all areas of your lungs. This test can help detect PE. Pulmonary Angiography ...

  16. Pulmonary function in Parkinson's disease.

    Science.gov (United States)

    Hovestadt, A; Bogaard, J M; Meerwaldt, J D; van der Meché, F G; Stigt, J

    1989-03-01

    Pulmonary function was investigated in 31 consecutive patients with relatively severe Parkinson's disease. Clinical disability was assessed by Hoehn and Yahr scale, Northwestern University Disability Scale and Websterscore. All patients were on levodopa substitution therapy and used anticholinergics. Pulmonary function was investigated by spirography, determination of a maximal inspiratory and expiratory flow-volume curve and, when possible, maximal static mouth pressures were determined. Peak inspiratory and expiratory flow, maximal expiratory flow at 50% and maximal static mouth pressures were significantly below normal values. Vital capacity, forced inspiratory volume in 1 s and the ratio of forced expiratory volume in 1 s and vital capacity were relatively normal. Nine patients had upper airway obstruction (UAO) as judged by abnormal values for peak inspiratory flow, the ratio of forced expiratory volume in 1 s and peak expiratory flow and the ratio of maximal expiratory and inspiratory flow at 50%. Flow-volume curves were normal in eight patients; four patients demonstrated flow decelerations and accelerations (type A) and 16 had a rounded off flow-volume curve (type B). Type A can be explained by UAO and type B by a combination of decreased effective muscle strength and possible UAO. Overall results of pulmonary function tests in patients without any clinical signs or symptoms of pulmonary disease point to subclinical upper airway obstruction and decreased effective muscle strength in a significant proportion of patients.

  17. Management of pulmonary arterial hypertension.

    LENUS (Irish Health Repository)

    Judge, Eoin P

    2013-02-01

    Pulmonary arterial hypertension (PAH) is a complex disease with a high mortality. Management of this disease is underpinned by supportive and general therapies delivered by multidisciplinary teams in specialist centres. In recent years, a number of PAH-specific therapies have improved patient outcomes. This article will discuss the management of PAH in the context of relevant recently published studies in this area.

  18. Pulmonary function in Parkinson's disease.

    Science.gov (United States)

    Hovestadt, A; Bogaard, J M; Meerwaldt, J D; van der Meché, F G; Stigt, J

    1989-01-01

    Pulmonary function was investigated in 31 consecutive patients with relatively severe Parkinson's disease. Clinical disability was assessed by Hoehn and Yahr scale, Northwestern University Disability Scale and Websterscore. All patients were on levodopa substitution therapy and used anticholinergics. Pulmonary function was investigated by spirography, determination of a maximal inspiratory and expiratory flow-volume curve and, when possible, maximal static mouth pressures were determined. Peak inspiratory and expiratory flow, maximal expiratory flow at 50% and maximal static mouth pressures were significantly below normal values. Vital capacity, forced inspiratory volume in 1 s and the ratio of forced expiratory volume in 1 s and vital capacity were relatively normal. Nine patients had upper airway obstruction (UAO) as judged by abnormal values for peak inspiratory flow, the ratio of forced expiratory volume in 1 s and peak expiratory flow and the ratio of maximal expiratory and inspiratory flow at 50%. Flow-volume curves were normal in eight patients; four patients demonstrated flow decelerations and accelerations (type A) and 16 had a rounded off flow-volume curve (type B). Type A can be explained by UAO and type B by a combination of decreased effective muscle strength and possible UAO. Overall results of pulmonary function tests in patients without any clinical signs or symptoms of pulmonary disease point to subclinical upper airway obstruction and decreased effective muscle strength in a significant proportion of patients. PMID:2926415

  19. Pulmonary Testing Laboratory Computer Application

    OpenAIRE

    Johnson, Martin E.

    1980-01-01

    An interactive computer application reporting patient pulmonary function data has been developed by Washington, D.C. VA Medical Center staff. A permanent on-line data base of patient demographics, lung capacity, flows, diffusion, arterial blood gases and physician interpretation is maintained by a minicomputer at the hospital.

  20. MRI of the pulmonary parenchyma

    International Nuclear Information System (INIS)

    Imaging of the pulmonary parenchyma represents a unique challenge for MRI. Limited signal is caused by low proton density, susceptibility artifacts, and physiological motion (cardiac pulsation, respiration). Recently, further improvements in MRI techniques have widened the potential for investigations of pulmonary parenchymal disease. These include very short echo times, ultrafast turbo-spin-echo acquisitions, projection reconstruction technique, breathhold imaging, ECG triggering, contrast agents (perfusion imaging, aerosols), sodium imaging, hyperpolarized noble gas imaging, and oxygen enhancement. By using widely available techniques, MRI is helpful in the assessment of (a) acute alveolitic processes in chronic infiltrative lung disease, (b) detection and characterization of pulmonary nodules, (c) detection, characterization, and follow-up of pneumonia, (d) differentiation of obstructive atelectasis from non-obstructive atelectasis and infarctions, and (e) measurements of lung water content. Chronic bronchitis, bronchiectasis, and emphysema are not readily assessable by routine MRI techniques. More sophisticated techniques are under investigation for MR imaging of pulmonary ventilation and perfusion. They represent the beginning of functional MR imaging of the lung which will be established in the future. (orig.)

  1. MRI of the pulmonary parenchyma

    Energy Technology Data Exchange (ETDEWEB)

    Kauczor, H.U.; Kreitner, K.F. [Mainz Univ. (Germany). Klinik und Poliklinik fuer Radiologie

    1999-07-01

    Imaging of the pulmonary parenchyma represents a unique challenge for MRI. Limited signal is caused by low proton density, susceptibility artifacts, and physiological motion (cardiac pulsation, respiration). Recently, further improvements in MRI techniques have widened the potential for investigations of pulmonary parenchymal disease. These include very short echo times, ultrafast turbo-spin-echo acquisitions, projection reconstruction technique, breathhold imaging, ECG triggering, contrast agents (perfusion imaging, aerosols), sodium imaging, hyperpolarized noble gas imaging, and oxygen enhancement. By using widely available techniques, MRI is helpful in the assessment of (a) acute alveolitic processes in chronic infiltrative lung disease, (b) detection and characterization of pulmonary nodules, (c) detection, characterization, and follow-up of pneumonia, (d) differentiation of obstructive atelectasis from non-obstructive atelectasis and infarctions, and (e) measurements of lung water content. Chronic bronchitis, bronchiectasis, and emphysema are not readily assessable by routine MRI techniques. More sophisticated techniques are under investigation for MR imaging of pulmonary ventilation and perfusion. They represent the beginning of functional MR imaging of the lung which will be established in the future. (orig.)

  2. Drugs induced pulmonary arterial hypertension.

    Science.gov (United States)

    Seferian, Andrei; Chaumais, Marie-Camille; Savale, Laurent; Günther, Sven; Tubert-Bitter, Pascale; Humbert, Marc; Montani, David

    2013-09-01

    Pulmonary arterial hypertension (PAH) is a rare disorder characterized by progressive obliteration of the pulmonary microvasculature, resulting in elevated pulmonary vascular resistance and premature death. According to the current classification, PAH can be associated with exposure to certain drugs or toxins, particularly appetite suppressant drugs, such as aminorex, fenfluramine derivatives and benfluorex. These drugs have been confirmed to be risk factors for PAH and were withdrawn from the market. The supposed mechanism is an increase in serotonin levels, which was demonstrated to act as a growth factor for the pulmonary arterial smooth muscle cells. Amphetamines, phentermine and mazindol were less frequently used but are also considered as possible risk factors for PAH. Dasatinib, a dual Src/Abl kinase inhibitor, used in the treatment of chronic myelogenous leukaemia was associated with cases of severe PAH, in part reversible after its withdrawal. Recently several studies raised the potential endothelial dysfunction that could be induced by interferon, and few cases of PAH have been reported with interferon therapy. Other possible risk factors for PAH include: nasal decongestants, like phenylpropanolamine, dietary supplement - L-Tryptophan, selective serotonin reuptake inhibitors, pergolide and other drugs that could act on 5HT2B receptors. Interestingly, PAH remains a rare complication of these drugs, suggesting possible individual susceptibility and further studies are needed to identify patients at risk of drugs induced PAH. PMID:23972547

  3. Aspiration-related pulmonary syndromes.

    Science.gov (United States)

    Hu, Xiaowen; Lee, Joyce S; Pianosi, Paolo T; Ryu, Jay H

    2015-03-01

    Aspiration of foreign matter into the airways and lungs can cause a wide spectrum of pulmonary disorders with various presentations. The type of syndrome resulting from aspiration depends on the quantity and nature of the aspirated material, the chronicity, and the host responses. Aspiration is most likely to occur in subjects with a decreased level of consciousness, compromised airway defense mechanisms, dysphagia, gastroesophageal reflux, and recurrent vomiting. These aspiration-related syndromes can be categorized into airway disorders, including vocal cord dysfunction, large airway obstruction with a foreign body, bronchiectasis, bronchoconstriction, and diffuse aspiration bronchiolitis, or parenchymal disorders, including aspiration pneumonitis, aspiration pneumonia, and exogenous lipoid pneumonia. In idiopathic pulmonary fibrosis, aspiration has been implicated in disease progression and acute exacerbation. Aspiration may increase the risk of bronchiolitis obliterans syndrome in patients who have undergone a lung transplant. Accumulating evidence suggests that a causative role for aspiration is often unsuspected in patients presenting with aspiration-related pulmonary diseases; thus, many cases go undiagnosed. Herein, we discuss the broadening spectrum of these pulmonary syndromes with a focus on presenting features and diagnostic aspects. PMID:25732447

  4. Pulmonary Metastasis from Pseudomyxoma Peritonei

    Directory of Open Access Journals (Sweden)

    Toshiyuki Kitai

    2012-01-01

    Full Text Available Pseudomyxoma peritonei (PMP is a rare clinical condition, where copious mucinous ascites accumulate in the peritoneal cavity due to dissemination of mucin-producing tumor. Because of this disseminating, yet nonmetastasizing, behavior, PMP attracts much interest from surgical oncologists in that aggressive locoregional therapy can give the opportunity of long survival and even cure. Although extra-abdominal metastasis is exceptionally rare, the lung is the most likely site in such a case. In this paper, the clinical findings and treatment of eleven cases with pulmonary metastasis from PMP were reviewed, including ten cases in the literature and one case which we experienced. The clinical features of PMP cases with pulmonary metastasis were similar to cases without pulmonary metastasis. The histological type was low-grade mucinous neoplasm in most cases. Pulmonary lesions were resected in seven cases in which abdominal lesions were controlled by cytoreductive surgery and hyperthermic intraperitoneal chemotherapy or another therapeutic modality. Disease-free state was maintained in five cases at the end of the follow-up period. However, it should be noted that rapid progression after resection was seen in two cases, suggesting that biological features may have changed by surgical intervention.

  5. Hantavirus pulmonary syndrome, French Guiana.

    OpenAIRE

    Matheus, Séverine; Djossou, Félix; Moua, David; Bourbigot, Anne Marie; Hommel, Didier; Lacoste, Vincent; Dussart, Philippe; Lavergne, Anne

    2010-01-01

    A systematic serological survey of patients suffering from symptoms suggestive of Hantavirus pulmonary syndrome allowed us to identify a native case in French Guiana. Partial molecular characterization of the implicated hantavirus revealed its close relationship with the Bolivian Rio Mamore virus. We tentatively named it Maripa virus.

  6. [Management of subsolid pulmonary nodules

    NARCIS (Netherlands)

    Eisenhuber, E.; Mostbeck, G.; Prosch, H.; Schaefer-Prokop, C.M.

    2014-01-01

    The finding of subsolid pulmonary nodules poses a frequent problem in the daily routine of the radiologist. The biological behavior of such subsolid lesions differs significantly from solid nodules. The risk of malignancy is significantly higher in subsolid nodules as compared to solid or purely gro

  7. Rifampicin pulmospheres for pulmonary delivery

    Directory of Open Access Journals (Sweden)

    Morde M

    2009-01-01

    Full Text Available Dry powder inhalation formulations of rifampicin were prepared. Spray drying was used to prepare pulmospheres and their physicochemical characteristics were evaluated. Spray dried pulmospheres containing rifampicin were mixed with inhalable lactose for preparing dry powder inhalation formulations. These formulations were further characterized to evaluate the feasibility of developing effective treatments for pulmonary tuberculosis.

  8. Pulmonary Hypertension in Pregnancy: Critical Care Management

    Directory of Open Access Journals (Sweden)

    Adel M. Bassily-Marcus

    2012-01-01

    Full Text Available Pulmonary hypertension is common in critical care settings and in presence of right ventricular failure is challenging to manage. Pulmonary hypertension in pregnant patients carries a high mortality rates between 30–56%. In the past decade, new treatments for pulmonary hypertension have emerged. Their application in pregnant women with pulmonary hypertension may hold promise in reducing morbidity and mortality. Signs and symptoms of pulmonary hypertension are nonspecific in pregnant women. Imaging workup may have undesirable radiation exposure. Pulmonary artery catheter remains the gold standard for diagnosing pulmonary hypertension, although its use in the intensive care unit for other conditions has slowly fallen out of favor. Goal-directed bedside echocardiogram and lung ultrasonography provide attractive alternatives. Basic principles of managing pulmonary hypertension with right ventricular failure are maintaining right ventricular function and reducing pulmonary vascular resistance. Fluid resuscitation and various vasopressors are used with caution. Pulmonary-hypertension-targeted therapies have been utilized in pregnant women with understanding of their safety profile. Mainstay therapy for pulmonary embolism is anticoagulation, and the treatment for amniotic fluid embolism remains supportive care. Multidisciplinary team approach is crucial to achieving successful outcomes in these difficult cases.

  9. The Pulmonary Circulation and Exercise Responses in the Elderly

    OpenAIRE

    Taylor, Bryan J.; Johnson, Bruce D.

    2010-01-01

    Aging is associated with a progressive deterioration in the structure and function of the pulmonary circulation. Remodeling of the pulmonary vasculature occurs from maturity to senescence that is characterized by an increase in pulmonary vascular stiffness, pulmonary vascular pressures, and pulmonary vascular resistance along with increased heterogeneity of alveolar ventilation and pulmonary perfusion and decreased pulmonary capillary blood volume and membrane diffusing capacity that is consi...

  10. [Radiographic assessment of pulmonary hypertension: Methodical aspects].

    Science.gov (United States)

    Korobkova, I Z; Lazutkina, V K; Nizovtsova, L A; Riden, T V

    2015-01-01

    Pulmonary hypertension is a menacing complication of a number of diseases, which is responsible for high mortality rates and considerably poorer quality of life in a patient. The timely detection for pulmonary hypertension allows timely initiation of treatment, thus improvement in prognosis in the patient. Chest X-ray is the most commonly used radiographic technique for various causes. Physicians' awareness about the radiographic manifestations of pulmonary hypertension may contribute to the earlier detection of this severe disease. Owing to the natural contrast of reflected structures, a chest X-ray film gives a unique opportunity to assess pulmonary circulation vessels, to reveal the signs of pulmonary hypertension, and to estimate trends in the course of the disease. The paper details a procedure for analysis and the normal radiographic anatomy of pulmonary circulation vessels, gives the present classification of pulmonary hypertension, and sets forth its X-ray semiotics. PMID:26552229

  11. A case of pulmonary artery sarcoma presented as cavitary pulmonary lesions.

    Science.gov (United States)

    Min, Daniel; Lee, Ji-Hyun; Jeong, Hye-Cheol; Kim, Jung-Hyun; Shin, Suk-Pyo; Kim, Hong-Min; Han, Kyu Hyun; Jeong, Hye Yun; Kim, Eun-Kyung

    2014-03-01

    Pulmonary artery sarcoma (PAS) is a rare, poorly differentiated malignancy arising from the intimal layer of the pulmonary artery. Contrast-enhanced chest computed tomography (CT) is a good diagnostic modality that shows a low-attenuation filling defect of the pulmonary artery in PAS patients. An 18-year-old man was referred to our hospital for the evaluation and management of cavitary pulmonary lesions that did not respond to treatment. A contrast-enhanced CT of the chest was performed, which showed a filling defect within the right interlobar pulmonary artery. The patient underwent a curative right pneumonectomy after confirmation of PAS. Although lung parenchymal lesions of PAS are generally nonspecific, it can be presented as cavities indicate pulmonary infarcts. Clinicians must consider the possibility of PAS as well as pulmonary thromboembolism in patients with pulmonary infarcts. So, we report the case with PAS that was diagnosed during the evaluation of cavitary pulmonary lesions and reviewed the literatures. PMID:24734102

  12. Inhaled Therapies for Pulmonary Hypertension.

    Science.gov (United States)

    Hill, Nicholas S; Preston, Ioana R; Roberts, Kari E

    2015-06-01

    The inhaled route has a number of attractive features for treatment of pulmonary hypertension, including delivery of drug directly to the target organ, thus enhancing pulmonary specificity and reducing systemic adverse effects. It can also improve ventilation/perfusion matching by dilating vessels supplying ventilated regions, thus improving gas exchange. Furthermore, it can achieve higher local drug concentrations at a lower overall dose, potentially reducing drug cost. Accordingly, a number of inhaled agents have been developed to treat pulmonary hypertension. Most in current use are prostacyclins, including epoprostenol, which has been cleared for intravenous applications but is used off-label in acute care settings as a continuously nebulized medication. Aerosolized iloprost and treprostinil are both prostacyclins that have been cleared by the FDA to treat pulmonary arterial hypertension (PAH). Both require frequent administration (6 and 4 times daily, respectively), and both have a tendency to cause airway symptoms, including cough and wheeze, which can lead to intolerance. These agents cannot be used to substitute for the infused routes of prostacyclin because they do not permit delivery of medication at high doses. Inhaled nitric oxide (INO) is cleared for the treatment of primary pulmonary hypertension in newborns. It is also used off-label to test acute vasoreactivity in PAH during right-heart catheterization and to treat acute right-heart failure in hospitalized patients. In addition, some studies on long-term application of INO either have been recently completed with results pending or are under consideration. In the future, because of its inherent advantages in targeting the lung, the inhaled route is likely to be tested using a variety of small molecules that show promise as PAH therapies. PMID:26070575

  13. Characteristics of pulmonary inflammation in combined pulmonary fibrosis and emphysema

    Institute of Scientific and Technical Information of China (English)

    ZHAO Ying; CUI Ai; WANG Feng; WANG Xiao-juan; CHEN Xing; JIN Mu-lan; HUANG Ke-wu

    2012-01-01

    Background The condition of concomitant upper lobe emphysema and lower lobe fibrosis as identified by computer tomography is known as combined pulmonary fibrosis and emphysema (CPFE).CPFE has distinct clinical characteristics compared with emphysema alone (EA) and idiopathic pulmonary fibrosis (IPF) without emphysema.However,the pulmonary inflammation characteristics of CPFE are not well known,and the differences between CPFE and the other two diseases with regards to pulmonary inflammation need to be explored.The pulmonary inflammatory characteristics were investigated in CPFE patients and compared with EA and IPF.Methods Fraction exhaled nitric oxide (Fe,NO) and differential cell counts,the concentrations of monokine induced by interferon gamma (MIG/CXCL9),interferon-inducible protein 10 (IP-10/CXCL10),and interferon-inducible T cell alpha chemoattractant (I-TAC/CXCL11) were measured in induced sputum obtained from subjects with CPFE (n=22),EA (n=22),IPF (n=14),and healthy volunteers (HV,n=12).In addition,immunohistochemistry was used to quantify the expression of nitric oxide synthases in alveolar macrophages in 23 lung tissues from patients and control subjects.Results The CPFE group had higher alveolar NO than subjects in the EA and HV groups (P=0.009,P=0.001,respectively) but not than the IPF group (P >0.05).Numbers of sputum eosinophils were significantly elevated in CPFE and IPF groups compared with the HV group (P=0.001,P=-0.008).In contrast,eosinophil counts in EA group did not differ from those in the HV group.Compared with the EA and HV groups,the CPFE group had a lower concentration of Ⅰ-TAC/CXCL11 in sputum supernatants (P=-0.003,P=0.004).Immunoreactivity for inducible nitric oxide synthase (iNOS)was higher in the CPFE group than in the EA group (P=-0.018,P=0.006,respectively).Conclusions The pulmonary inflammation of CPFE group is more similar to IPF group,while the distal airway inflammation is more significant in CPFE and IPF groups than in EA

  14. A rare case of human pulmonary dirofilariasis with a growing pulmonary nodule after migrating infiltration shadows, mimicking primary lung carcinoma

    OpenAIRE

    Akira Haro; Sadafumi Tamiya; Akira Nagashima

    2016-01-01

    Introduction: Pulmonary dirofilariasis is a rare pulmonary parasitic infection by the nematode Dirofilaria immitis. It is characterized by an asymptomatic pulmonary nodule usually seen on chest X-ray. The differential diagnosis of pulmonary dirofilariasis includes other pulmonary diseases, primary lung carcinoma and metastatic lung tumor. Case presentation: Pulmonary dirofilariasis was diagnosed in a woman who presented with interstitial pneumonia. Growth of the pulmonary nodule was detect...

  15. Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC due to NR0B1 mutations.

    Directory of Open Access Journals (Sweden)

    Caroline Galeotti

    Full Text Available BACKGROUND: Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH and primary defects in spermatogenesis. METHODS: We analysed the evolution of hypothalamic-pituitary-testicular function of 8 boys with AHC due to NR0B1 mutations. Our objective was to characterize and monitor the progressive deterioration of this function. RESULTS: The first symptoms appeared in the neonatal period (n = 5 or between 6 months and 8.7 years (n = 3. Basal plasma adrenocorticotrophic hormone (ACTH concentrations increased in all boys, whilst cortisol levels decreased in one case. The natremia was equal or below 134 mmol/L and kaliemia was over 5 mmol/L. All had increased plasma renin. In 3 of 4 patients diagnosed in the neonatal period and evaluated during the first year, the basal plasma gonadotropins concentrations, and their response to gonadotropin releasing hormone (GnRH test (n = 2, and those of testosterone were normal. The plasma inhibin B levels were normal in the first year of life. With the exception of two cases these concentrations decreased to below the normal for age. Anti-Müllerian hormone concentrations were normal for age in all except one case, which had low concentrations before the initiation of testosterone treatment. In 3 of the 8 cases the gene was deleted and the remaining 5 cases carried frameshift mutations that are predicted to introduce a downstream nonsense mutation resulting in a truncated protein. CONCLUSIONS: The decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations. These non-invasive examinations can help to estimate the age of the testicular degradation and cryopreservation of semen may be considered in these cases as investigational procedure with the aim of restoring fertility.

  16. Pulmonary Venous Obstruction in Cancer Patients

    Directory of Open Access Journals (Sweden)

    Chuang-Chi Liaw

    2015-01-01

    Full Text Available Background. We study the clinical significance and management of pulmonary venous obstruction in cancer patients. Methods. We conducted a prospective cohort study to characterize the syndrome that we term “pulmonary vein obstruction syndrome” (PVOS between January 2005 and March 2014. The criteria for inclusion were (1 episodes of shortness of breath; (2 chest X-ray showing abnormal pulmonary hilum shadow with or without presence of pulmonary edema and/or pleural effusion; (3 CT scan demonstrating pulmonary vein thrombosis/tumor with or without tumor around the vein. Results. Two hundred and twenty-two patients developed PVOS. Shortness of breath was the main symptom, which was aggravated by chemotherapy in 28 (13%, and medical/surgical procedures in 21 (9% and showed diurnal change in intensity in 32 (14%. Chest X-rays all revealed abnormal pulmonary hilum shadows and presence of pulmonary edema in 194 (87% and pleural effusion in 192 (86%. CT scans all showed pulmonary vein thrombosis/tumor (100% and surrounding the pulmonary veins by tumor lesions in 140 patients (63%. PVOS was treated with low molecular weight heparin in combination with dexamethasone, and 66% of patients got clinical/image improvement. Conclusion. Physicians should be alert to PVOS when shortness of breath occurs and chest X-ray reveals abnormal pulmonary hilum shadows.

  17. Discrimination between invasive pulmonary aspergillosis and pulmonary lymphoma using CT

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    Kawel, Nadine, E-mail: nadine.kawel@gmx.de [Department of Radiology, Kantonsspital Graubuenden, Loestr. 170, 7000 Chur (Switzerland); Department of Radiology, University Hospital Basel, Petersgraben 4, 4031 Basel (Switzerland); Schorer, Georg M., E-mail: gmschorer@hotmail.com [Institute of Diagnostic Radiology, University Hospital of Zurich, Raemistr. 100, 8091 Zurich (Switzerland); Stiftung Zuercher Blutspendedienst SRK, Ruetistrasse 19, 8952 Schlieren (Switzerland); Desbiolles, Lotus, E-mail: lotus.desbiolles@usz.ch [Institute of Diagnostic Radiology, University Hospital of Zurich, Raemistr. 100, 8091 Zurich (Switzerland); Seifert, Burkhardt, E-mail: seifert@ifspm.uzh.ch [Biostatistics Unit ISPM, University of Zurich, Hirschengraben 84, 8001 Zurich (Switzerland); Marincek, Borut, E-mail: borut.marincek@usz.ch [Institute of Diagnostic Radiology, University Hospital of Zurich, Raemistr. 100, 8091 Zurich (Switzerland); Boehm, Thomas, E-mail: thomas_boehm@gmx.net [Department of Radiology, Kantonsspital Graubuenden, Loestr. 170, 7000 Chur (Switzerland); Institute of Diagnostic Radiology, University Hospital of Zurich, Raemistr. 100, 8091 Zurich (Switzerland)

    2011-03-15

    Objective: The purpose was to assess the characteristic CT features of invasive pulmonary aspergillosis (IPA) and pulmonary lymphoma (PL) and to analyze the potential to distinguish the two entities using CT. Methods: The CT images of 70 patients with either proven IPA (n = 35) or PL (n = 35) were evaluated retrospectively and independently by two radiologists (reader 1 [R1] and reader 2 [R2]), analyzing images for presence, number and characteristics of pulmonary nodules and masses, ground-glass opacities, consolidations and other interstitial changes. Results: Interreader agreement was moderate (4/33 CT features), good (9/33) or excellent (20/33). Pulmonary nodules (P = 0.045 [R1], P = 0.001 [R2]), nodules with spiculated outer contours (P < 0.001 [R1], P = 0.001 [R2]), nodules with a halo sign (P < 0.001 [R1+R2]), nodules with homogeneous (P = 0.030 [R1], P = 0.006 [R2]) and inhomogeneous (P = 0.001 [R1], P < 0.001 [R2]) attenuation patterns, nodules with cavitation (P = 0.006 [R1], P = 0.003 [R2]) and wedge-shaped, pleural-based consolidations (P < 0.001 [R1 + R2]) occurred significantly more often in patients with IPA, while masses without a halo sign (P = 0.03 [R1], P = 0.01 [R2]), lobar consolidations with bronchogram (P = 0.02 [R1 + R2]) and consolidations with homogeneous attenuation patterns (P < 0.001 [R1 + R2]) were found significantly more frequent in PL-patients. Conclusions: Those CT features can therefore be considered suggestive for either IPA or PL. However, in most cases the diagnosis cannot be made based on CT findings solely because no single feature gained a high sensitivity and specificity concomitantly. Furthermore, the logistic regression did not show a combination that was significantly better than the best univariate predictor.

  18. Diagnosing chronic thromboembolic pulmonary hypertension: current perspectives

    Directory of Open Access Journals (Sweden)

    Hadinnapola C

    2014-09-01

    Full Text Available Charaka Hadinnapola, Deepa Gopalan, David P Jenkins Papworth Hospital National Health Service Foundation Trust, Papworth Everard, Cambridge, United Kingdom Abstract: Chronic thromboembolic pulmonary hypertension is a rare and relatively poorly understood disease. It remains underdiagnosed and is often not recognized in primary and secondary care, as its symptoms are nonspecific and there are few clinical signs until late in the disease process. However, pulmonary endarterectomy (PEA offers a potential cure for patients with this type of pulmonary hypertension; therefore, it is important that they are identified and diagnosed in a timely manner. PEA is associated with a 2.2%–5% risk of significant morbidity and mortality, even in experienced PEA centers. Therefore, once chronic thromboembolic pulmonary hypertension is diagnosed, further assessment of operability and patient selection is crucial. Assessment of operability involves determining the distribution and burden of chronic thromboembolic disease, assessing pulmonary hemodynamics, and assessing the functional impairment of the patient. Ventilation perfusion scintigraphy is of value in screening for the presence of chronic thromboembolic disease. However, computer tomography pulmonary angiography and magnetic resonance pulmonary angiography are now increasingly used to image the vascular occlusions directly. This allows assessment of the surgically accessible disease burden. Some centers still advocate conventional selective pulmonary angiography for the latter. Right-heart catheterization remains the gold standard for assessing pulmonary hemodynamics. Higher pulmonary vascular resistances are associated with poorer outcomes as well as increased risks at the time of surgery. This is in part because of the presence of more distal chronic thromboembolic material and distal pulmonary artery remodeling. However, in experienced centers, these patients are being operated on safely and with good

  19. [Pulmonary hypertension: definition, classification and treatments].

    Science.gov (United States)

    Jutant, Etienne-Marie; Humbert, Marc

    2016-01-01

    Pulmonary hypertension (PH) is a cardio-pulmonary disorder that may involve multiple clinical conditions and can complicate the majority of cardiovascular and respiratory diseases. Its definition is an increase in mean pulmonary artery pressure (mPAP) \\hbox{$\\geqslant $} ⩾ 25 mmHg at rest, leading to right heart failure and ultimately death. The clinical classification of pulmonary hypertension (PH) categorizes PH into groups which share similar pathophysiological and hemodynamic characteristics and treatments. Five groups of disorders that cause PH are identified: pulmonary arterial hypertension (Group 1) which is a pre-capillary PH, defined by a normal pulmonary artery wedge pressure (PAWP) \\hbox{$\\leqslant $} ⩽ 15 mmH, due to remodelling of the small pulmonary arteries (hypertension due to left heart disease (Group 2) which is a post-capillary PH, defined by an increased pulmonary artery wedge pressure (PAWP) >15 mmHg; pulmonary hypertension due to chronic lung disease and/or hypoxia (Group 3); chronic thrombo-embolic pulmonary hypertension (Group 4); and pulmonary hypertension due to unclear and/or multifactorial mechanisms (Group 5). PAH (PH group 1) can be treated with agents targeting three dysfunctional endothelial pathways of PAH: nitric oxide (NO) pathway, endothelin-1 pathway and prostacyclin pathway. Patients at low or intermediate risk can be treated with either initial monotherapy or initial oral combination therapy. In patients at high risk initial combination therapy including intravenous prostacyclin analogues should be considered. Patients with inadequate clinical response to maximum treatment (triple therapy with an intravenous prostacyclin) should be assessed for lung transplantation. Despite progresses, PAH remains a fatal disease with a 3-year survival rate of 58%. Treatment of group 2, group 3 and group 5 PH is the treatment of the causal disease and PAH therapeutics are not recommended. Treatment of group 4 PH is pulmonary

  20. Pulmonary infections in immunocompromised patients

    International Nuclear Information System (INIS)

    Full text: Introduction: The lung is one of the most commonly affected organs in immunocompromised patients. Primary complication is pulmonary infection which is associated with high morbidity and mortality. Although radiography and CT, as main diagnostic tools are reliable and credible methods, often there is difficulty with the correct diagnose. The reasons for this are that immunocompromised patients are potentially susceptible to infection by various microorganisms and that the radiographic findings are rarely specific for detecting a particular pathogen. What you will learn : Our objective is to present general nosological classification of pulmonary infections in immunocompromised patients, and to evaluate and analyze new imaging methods and discuss their correlation with the clinical setting, which aims to facilitate the diagnosis and to take a decision for the treatment. The experience indicates that a clinical environment conducive the immunocompromised patients to infection with certain pathogens, thereby changing the frequency of their occurrence. The most commonly cited fungal infections, cytomegalovirus infections, Pneumocystis carinii pneumonia and Pulmonary tuberculosis (PTB) of which convincing is the Imaging diagnosis primarily in fungal infections, and Pneumocystis carinii pneumonia and less accurate - in bacterial and viral infections. Discussion: The term 'immunocompromised' describes a subject with an increased risk for life-threatening infection as a result of congenital or acquired abnormalities of the immune system. Over the past few decades, the number of immunocompromised patients has grown considerably, reflecting the increased use of immunosuppressive drugs, and the syndrome of acquired immunodeficiency. Given the high incidence of pulmonary infections in immunocompromised patients (lung is one of the most commonly affected organs, such as lung infection is about 75% of pulmonary complications), rapid and accurate diagnosis is important

  1. Interruption of pulmonary arterial flow with inadequate ventilation leads to pulmonary infection.

    Science.gov (United States)

    Urano; Shibayama, Y; Fukunshi, K; Nariyama, K; Ohsawa, N

    1996-03-01

    We examined the effect of interruption of pulmonary arterial flow and inadequate ventilation on the development of pulmonary infarction in rats. Pulmonary arterial flow was blocked by the injection of agar into the inferior vena cava and inadequate ventilation was produced by obstructing the left main bronchus with a polypropylene tip. Histological and angiographic examination of the lung demonstrated that: pulmonary artery embolism alone does not induce pulmonary infarction; obstruction of a bronchus does not induce significant changes, but that pulmonary infarction develops when pulmonary artery embolism and obstruction of a bronchus occur simultaneously. It has been thought that pulmonary infarction is caused by acute obstruction of a pulmonary artery, however, the alveolar walls are supplied with oxygen by both the pulmonary circulation and by ventilation. Interruption of pulmonary arterial flow alone is probably not sufficient to induce pulmonary infarction, which is probably caused by deficiency of oxygen supply to the alveolar walls by a synergy between interruption of pulmonary arterial flow and inadequate ventilation. PMID:8605572

  2. Quantitative Computed Tomography of Pulmonary Emphysema and Ventricular Function in Chronic Obstructive Pulmonary Disease Patients with Pulmonary Hypertension

    OpenAIRE

    Huang, Yu-Sen; Hsu, Hsao-Hsun; Chen, Jo-Yu; Tai, Mei-Hwa; Jaw, Fu-Shan; Chang, Yeun-Chung

    2014-01-01

    Objective This study strived to evaluate the relationship between degree of pulmonary emphysema and cardiac ventricular function in chronic obstructive pulmonary disease (COPD) patients with pulmonary hypertension (PH) using electrocardiographic-gated multidetector computed tomography (CT). Materials and Methods Lung transplantation candidates with the diagnosis of COPD and PH were chosen for the study population, and a total of 15 patients were included. The extent of emphysema is defined as...

  3. Naloxone-induced pulmonary edema.

    Science.gov (United States)

    Schwartz, J A; Koenigsberg, M D

    1987-11-01

    We present the case of a 68-year-old woman with acute pulmonary edema secondary to the administration of naloxone to reverse an inadvertent narcotic overdose. The patient presented following a 12-hour history of increasingly bizarre behavior and confusion. A total IV dose of 1.6 mg naloxone was administered in an attempt to reverse the suspected overconsumption of a codeine-containing cough suppressant. She immediately became agitated, tachycardic, and diaphoretic; a clinical diagnosis of acute pulmonary edema was made. Following treatment with furosemide, nitroglycerin, and morphine sulfate, the patient recovered completely without further incident. Although naloxone is thought to be a safe drug with few complications, it should not be used indiscriminantly, and the smallest doses necessary to elicit the desired response should be used. PMID:3662194

  4. Pulmonary Paragonimiasis Mimicking Tuberculous Pleuritis

    Science.gov (United States)

    Luo, Jian; Wang, Mao-Yun; Liu, Dan; Zhu, Hui; Yang, Sai; Liang, Bin-Miao; Liang, Zong-An

    2016-01-01

    Abstract Pulmonary paragonimiasis is a food-borne zoonosis with a wide variety of radiologic findings, which sometimes can be confused with tuberculosis and carcinoma. Therefore, differential diagnosis is always warranted. A 43-year-old male farmer, with productive cough, blood-tinged sputum and chest pain, as well as patchy consolidation and pleural effusions in chest computer tomography, was misdiagnosed of community-acquired pneumonia and tuberculosis. Complete blood cell count, sputum smear and culture, chest computer tomography, thoracoscopy, and biopsy. The diagnosis of pulmonary paragonimiasis was established due to the finding of Charcot–Leyden crystals in the pleural necrosis, and antibodies against Paragonimus westermani in enzyme-linked immunosorbent assay. Paragonimiasis should be considered as a possibility in the differential diagnosis of tuberculosis. Thoracoscopy is an effective and valuable technology that can help make an accurate diagnosis. PMID:27082624

  5. Uncommon presentation of pulmonary aspergilloma

    Directory of Open Access Journals (Sweden)

    Baradkar V

    2009-01-01

    Full Text Available Cases of pulmonary aspergilloma without any predisposing factors are rarely reported. Clinical presentation varies from case to case. Here, we report a case of pulmonary aspergilloma in a 60-year-old male patient who was admitted to the Intensive Respiratory Care Unit with spontaneous pneumothorax. The patient had a history of dyspnea on exertion since 9 months and mild haemoptysis since the last 6 months. A computerised tomographic scan of the lungs showed a lesion in the left main bronchus along with obstructive emphysema of the right lung, moderate pneumothorax and mediastinal emphysema. Bronchoscopy was performed and the biopsy samples were processed for histopathological examination and culture on Sabouraud′s dextrose agar, which yielded growth of Aspergillus flavus. Repeat sputum samples also yielded the growth of A. flavus . The patient responded to intravenous liposomaamphotericin B and intercostal drainage.

  6. Cytologic diagnosis of pulmonary lesions.

    Science.gov (United States)

    Rossi, Esther Diana; Mulè, Antonino; Maggiore, Claudia; Miraglia, Antonella; Lauriola, Libero; Vecchio, Fabio Maria; Fadda, Guido

    2004-01-01

    The major types of cytologic preparations used in most laboratories to detect the lesions of the lower respiratory tract (LRT) are examined. These methods include sputum, bronchial washing, bronchial brushing, bronchoalveolar lavage (BAL) and fine-needle aspiration biopsy (FNAB). Sputum represents the simplest and most cost-effective sampling method even though fiberoptic bronchoscopy and radiologic guided FNAB are superseding it as the first diagnostic choice in most cases. There are advantages and disadvantages associated with each technique:bronchial brushing and FNABs tend to preserve both the cellular details and their architectural arrangement whereas sputum and bronchial washing often cause a variable degree of cellular degeneration and fragmentation. As a result, most pulmonary lesions may be detected and correctly diagnosed if multiple techniques are used to acquire diagnostic material. CT-guided FNAB represents the most effective method to achieve a correct diagnosis in pulmonary tumors. PMID:15852720

  7. Pulmonary changes in cystic fibrosis

    International Nuclear Information System (INIS)

    Pulmonary abnormalities in cystic fibrosis result from the obstruction of small bronchi by highly viscous mucus. Chronic obstructive lung disease and recurrent pulmonary infections result in a typical radiographic pattern later in the disease. Most patients can now be expected to survive into adulthood. The radiologist must make a careful comparison of serial films in order to detect complications early. By far the most important imaging modality is the conventional chest radiograph. CT is more sensitive for detection of structural abnormalities of the lung. Bronchography is a dangerous procedure and can lead to rapid deterioration of lung function. Lung scanning is a very sensitive method for demonstrating regional disturbances of ventilation and may reveal abnormalities earlier than conventional radiographs. In severe hemoptysis, selective bronchial arteriography with embolization of the bleeding vessel can be a life-saving procedure. (orig.)

  8. Prevalence, predictors, and survival in pulmonary hypertension related to end-stage chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Andersen, Kasper Hasseriis; Iversen, Martin; Kjaergaard, Jesper;

    2012-01-01

    The prevalence, prognostic importance, and factors that predict the presence and degree of pulmonary hypertension (PH) diagnosed with right heart catheterization (RHC) in patients with end-stage chronic obstructive pulmonary disease (COPD) remain unclear....

  9. Pulmonary surfactant and lung transplantation

    OpenAIRE

    Erasmus, Michiel Elardus

    1997-01-01

    Pulmonary surfactant lowers the surface tension at the air-water interface inside the alveolus. This is achieved by adsorption of surfactant phospholipids at the air-water interface, a process controlled by surfactant-associated proteins, such as SP-A. In this way, surfactant prevents collapse of the alveolus at end expiration, prevents formation of alveolar edema and increases the compliance of the lung. In chapter 1a an overview is given how the normal function of surfactant can be affected...

  10. Patient management of pulmonary embolism

    International Nuclear Information System (INIS)

    This is the first article in a four-part continuing education series addressing patient care and the clinical management of disease. This series is not directed at nuclear medicine procedures themselves, but focuses on topics related to patients referred for nuclear medicine studies. After reading this article, the reader should be able to: 1) discuss the diagnosis of pulmonary embolism; and 2) discuss conventional versus thrombolytic approaches to therapy

  11. Pulmonary involvement in ankylosing spondylitis.

    OpenAIRE

    Feltelius, N; Hedenström, H; Hillerdal, G; Hällgren, R

    1986-01-01

    Thirty two patients with ankylosing spondylitis were investigated with a set of pulmonary function tests and the results compared with those for a control population. The patients had no complaints about lung symptoms and their chest radiographs were normal. The main pathological findings were reduced lung volumes, a raised closing volume/vital capacity ratio, and a decreased volumic airway conductance. The lung volume reduction correlated with disease duration, thoracic mobility, and degree ...

  12. Clinical update on pulmonary embolism

    OpenAIRE

    Duru, Serap; Keleşoğlu, Arif; Ardıç, Sadık

    2013-01-01

    Pulmonary embolism (PE) is a major cause of cardiovascular mortality and financial burden that affects the community. The diagnosis of PE can be difficult because of the nonspecific symptoms, which include cough, dyspnea, hemoptysis and pleuritic chest pain. Hereditary and acquired risk factors are associated with PE. Incidence of PE is increasing, associated with the development in the diagnostic methods. Evidence-based algorithms can help clinicians diagnose PE. Serum D-dimer level, compute...

  13. Pulmonary complications after spine surgery

    OpenAIRE

    Stundner, Ottokar; Taher, Fadi; Pawar, Abhijit; Memtsoudis, Stavros G.

    2012-01-01

    Spine surgery is one of the fastest growing branches of orthopedic surgery. Patients often present with a relatively high acuity and, depending on surgical approach, morbidity and mortality can be comparatively high. Among the most prevalent and most frequently fatality-bound perioperative complications are those affecting the pulmonary system; evidence of clinical or subclinical lung injury triggered by spine surgical procedures is emerging. Increasing burden of comorbidity among the patient...

  14. Pulmonary Function Tests in Hypertension

    OpenAIRE

    Dr Swati Shah; Dr Mohiuddin Shaikh; Dr Yogesh Gupta; Dr Pradeep Nahar; Dr Urjita Zingade; Dr Arun Kowale

    2014-01-01

    Background: Many studies have shown that Hypertension is a chronic disease affecting many organs in the body. However, very few studies have been done to analyze the association between lung function and hypertension. It must be considered that antihypertensive treatment might have an effect on lung function, too. With this background the study was undertaken. Objectives: To assess and compare the pulmonary function tests (PFTs) in controlled hypertensive patients and; age and gender matched ...

  15. Ozone and Pulmonary Innate Immunity

    OpenAIRE

    Hollingsworth, John W.; Kleeberger, Steven R.; Foster, W. Michael

    2007-01-01

    Ambient ozone (O3) is a commonly encountered environmental air pollutant with considerable impact on public health. Many other inhaled environmental toxicants can substantially affect pulmonary immune responses. Therefore, it is of considerable interest to better understand the complex interaction between environmental airway irritants and immunologically based human disease. The innate immune system represents the first line of defense against microbial pathogens. Intact innate immunity requ...

  16. Idiopathic pulmonary fibrosis: treatment update.

    LENUS (Irish Health Repository)

    O'Connell, Oisin J

    2011-11-01

    Idiopathic pulmonary fibrosis (IPF) is the most common of the idiopathic interstitial pneumonias. Despite multiple recent clinical trials, there is no strong evidence supporting a survival advantage for any agent in the management of patients with IPF. The limited effectiveness of current treatment regimes has led to a search for novel therapies including antifibrotic strategies. This article reviews the evidence supporting the treatments currently used in the management of IPF.

  17. Pulmonary blastoma: remission with chemotherapy

    DEFF Research Database (Denmark)

    Nissen, Mogens Holst; Jacobsen, M; Vindeløv, L;

    1984-01-01

    A 59-year-old man with pulmonary blastoma, who had undergone right-sided pneumonectomy, had a relapse of the tumour 7 months later. Light-microscopic and ultrastructural studies were consistent with recurrence from the primary tumour. Cell kinetic studies revealed a high fraction of tumour cells ...... in the S-phase. Complete remission of the recurrence was obtained within 16 days after initiation of combination chemotherapy consisting of CCNU, vincristine, VP-16 and cyclophosphamide....

  18. Pulmonary embolism, part II: Management

    OpenAIRE

    Bĕlohlávek, Jan; Dytrych, Vladimír; Linhart, Aleš

    2013-01-01

    Acute pulmonary embolism (PE) bears a significant burden on health and survival. Rapid and accurate risk stratification and management are of paramount importance to ensure the highest quality of care. This present article summarizes currently available and emerging management strategies for the disease. The authors not only review current evidence regarding early therapy of acute PE, including supportive care, anticoagulation, thrombolysis, surgical and catheter-based treatment, but also the...

  19. Immersion Pulmonary Edema in Female Triathletes

    Directory of Open Access Journals (Sweden)

    Eric A. Carter

    2011-01-01

    Full Text Available Pulmonary edema has been reported in SCUBA divers, apnea divers, and long-distance swimmers however, no instances of pulmonary edema in triathletes exist in the scientific literature. Pulmonary edema may cause seizures and loss of consciousness which in a water environment may become life threatening. This paper describes pulmonary edema in three female triathletes. Signs and symptoms including cough, fatigue, dyspnea, haemoptysis, and rales may occur within minutes of immersion. Contributing factors include hemodynamic changes due to water immersion, cold exposure, and exertion which elevate cardiac output, causing pulmonary capillary stress failure, resulting in extravasation of fluid into the airspace of the lung. Previous history is a major risk factor. Treatment involves immediate removal from immersion and in more serious cases, hospitalization, and oxygen administration. Immersion pulmonary edema is a critical environmental illness of which triathletes, race organizers, and medical staff, should be made aware.

  20. Non-infectious Pulmonary Diseases and HIV.

    Science.gov (United States)

    Triplette, M; Crothers, K; Attia, E F

    2016-06-01

    Pulmonary complications remain among the most frequent causes of morbidity and mortality for individuals with HIV despite the advent of antiretroviral therapy (ART) and improvement in its efficacy and availability. The prevalence of non-infectious pulmonary diseases is rising in this population, reflecting both an increase in smoking and the independent risk associated with HIV. The unique mechanisms of pulmonary disease in these patients remain poorly understood, and direct effects of HIV, genetic predisposition, inflammatory pathways, and co-infections have all been implicated. Lung cancer, chronic obstructive pulmonary disease (COPD), and pulmonary hypertension are the most prevalent non-infectious pulmonary diseases in persons with HIV, and the risk of each of these diseases is higher among HIV-infected (HIV+) persons than in the general population. This review discusses the latest advances in the literature on these important complications of HIV infection. PMID:27121734

  1. Pulmonary Hyalinizing Granuloma Mimicking Metastatic Lung Cancer

    Directory of Open Access Journals (Sweden)

    Nuri Düzgün

    2015-01-01

    Full Text Available Pulmonary hyalinizing granuloma is a very rare benign condition, which usually manifests as solitary and sometimes as multiple pulmonary nodules. Deposition of immune complexes in the lung parenchyma due to hypersensitivity reactions is implicated in the etiology of pulmonary hyalinizing granuloma. A 59-year-old female patient who presented to our clinic with complaints of chest pain and cough had bilateral, multiple, and rounded lesions with regular margins suggesting metastatic lung disease. A transthoracic needle biopsy of the nodule was performed in the left pulmonary anterior segment. Biopsy showed no malignancy. Since no diagnosis was made by the biopsy, the patient underwent a video-assisted thoracic surgery. The wedge biopsy reported pulmonary hyalinizing granuloma. We aimed to present the diagnosis and treatment stages of our patient who was diagnosed with pulmonary hyalinizing granuloma in the light of literature review.

  2. Pulmonary Hyalinizing Granuloma Mimicking Metastatic Lung Cancer.

    Science.gov (United States)

    Düzgün, Nuri; Kurtipek, Ercan; Esme, Hıdır; Eren Karanis, Meryem İlkay; Tolu, İsmet

    2015-01-01

    Pulmonary hyalinizing granuloma is a very rare benign condition, which usually manifests as solitary and sometimes as multiple pulmonary nodules. Deposition of immune complexes in the lung parenchyma due to hypersensitivity reactions is implicated in the etiology of pulmonary hyalinizing granuloma. A 59-year-old female patient who presented to our clinic with complaints of chest pain and cough had bilateral, multiple, and rounded lesions with regular margins suggesting metastatic lung disease. A transthoracic needle biopsy of the nodule was performed in the left pulmonary anterior segment. Biopsy showed no malignancy. Since no diagnosis was made by the biopsy, the patient underwent a video-assisted thoracic surgery. The wedge biopsy reported pulmonary hyalinizing granuloma. We aimed to present the diagnosis and treatment stages of our patient who was diagnosed with pulmonary hyalinizing granuloma in the light of literature review. PMID:26347384

  3. Pulmonary Hyalinizing Granuloma Mimicking Metastatic Lung Cancer

    Science.gov (United States)

    Düzgün, Nuri; Kurtipek, Ercan; Esme, Hıdır; Eren Karanis, Meryem İlkay; Tolu, İsmet

    2015-01-01

    Pulmonary hyalinizing granuloma is a very rare benign condition, which usually manifests as solitary and sometimes as multiple pulmonary nodules. Deposition of immune complexes in the lung parenchyma due to hypersensitivity reactions is implicated in the etiology of pulmonary hyalinizing granuloma. A 59-year-old female patient who presented to our clinic with complaints of chest pain and cough had bilateral, multiple, and rounded lesions with regular margins suggesting metastatic lung disease. A transthoracic needle biopsy of the nodule was performed in the left pulmonary anterior segment. Biopsy showed no malignancy. Since no diagnosis was made by the biopsy, the patient underwent a video-assisted thoracic surgery. The wedge biopsy reported pulmonary hyalinizing granuloma. We aimed to present the diagnosis and treatment stages of our patient who was diagnosed with pulmonary hyalinizing granuloma in the light of literature review. PMID:26347384

  4. High-altitude pulmonary hypertension

    Directory of Open Access Journals (Sweden)

    X-Q. Xu

    2009-03-01

    Full Text Available High-altitude pulmonary hypertension (HAPH is a specific disease affecting populations that live at high elevations. The prevalence of HAPH among those residing at high altitudes needs to be further defined. Whereas reduction in nitric oxide production may be one mechanism for the development of HAPH, the roles of endothelin-1 and prostaglandin I2 pathways in the pathogenesis of HAPH deserve further study. Although some studies have suggested that genetic factors contribute to the pathogenesis of HAPH, data published to date are insufficient for the identification of a significant number of gene polymorphims in HAPH. The clinical presentation of HAPH is nonspecific. Exertional dyspnoea is the most common symptom and signs related to right heart failure are common in late stages of HAPH. Echocardiography is the most useful screening tool and right heart catheterisation is the gold standard for the diagnosis of HAPH. The ideal management for HAPH is migration to lower altitudes. Phosphodiesterase 5 is an attractive drug target for the treatment of HAPH. In addition, acetazolamide is a promising therapeutic agent for high-altitude pulmonary hypertension. To date, no evidence has confirmed whether endothelin-receptor antagonists have efficacy in the treatment of high-altitude pulmonary hypertension.

  5. Pulmonary delivery of nucleic acids.

    Science.gov (United States)

    Birchall, James

    2007-11-01

    The lung is an appropriate present and future target for gene therapy approaches designed to treat inherited monogenic diseases, eradicate bronchial tumours, transfer pharmacologically active products to the general circulation, express enzymes to catabolise toxins, manage pulmonary hypertension and lung injury and vaccinate against infection. Despite 35 years of gene therapy research and some significant milestones in molecular biology, the clinical potential of gene therapy has yet to be realised. In pulmonary gene therapy the nucleic acid cargo needs to be delivered to cells in the target region of the lung, and even in cases when these targets are well defined this is severely limited by the pulmonary architecture, clearance mechanisms, immune activation, the presence of respiratory mucus and the availability of a truly representative biological model. The challenge from a drug delivery perspective is to consider the suitability of conventional nebulisers and inhalers for delivering DNA to the lung and design and apply integrated formulation and device solutions specific to nucleic acid delivery. PMID:17970661

  6. Inflammation in pulmonary arterial hypertension.

    Science.gov (United States)

    Price, Laura C; Wort, S John; Perros, Frédéric; Dorfmüller, Peter; Huertas, Alice; Montani, David; Cohen-Kaminsky, Sylvia; Humbert, Marc

    2012-01-01

    Pulmonary arterial hypertension (PAH) is characterized by pulmonary vascular remodeling of the precapillary pulmonary arteries, with excessive proliferation of vascular cells. Although the exact pathophysiology remains unknown, there is increasing evidence to suggest an important role for inflammation. Firstly, pathologic specimens from patients with PAH reveal an accumulation of perivascular inflammatory cells, including macrophages, dendritic cells, T and B lymphocytes, and mast cells. Secondly, circulating levels of certain cytokines and chemokines are elevated, and these may correlate with a worse clinical outcome. Thirdly, certain inflammatory conditions such as connective tissue diseases are associated with an increased incidence of PAH. Finally, treatment of the underlying inflammatory condition may alleviate the associated PAH. Underlying pathologic mechanisms are likely to be "multihit" and complex. For instance, the inflammatory response may be regulated by bone morphogenetic protein receptor type 2 (BMPR II) status, and, in turn, BMPR II expression can be altered by certain cytokines. Although antiinflammatory therapies have been effective in certain connective-tissue-disease-associated PAH, this approach is untested in idiopathic PAH (iPAH). The potential benefit of antiinflammatory therapies in iPAH is of importance and requires further study. PMID:22215829

  7. Pulmonary complications of hepatic diseases

    Science.gov (United States)

    Surani, Salim R; Mendez, Yamely; Anjum, Humayun; Varon, Joseph

    2016-01-01

    Severe chronic liver disease (CLD) may result from portal hypertension, hepatocellular failure or the combination of both. Some of these patients may develop pulmonary complications independent from any pulmonary pathology that they may have. Among them the hepatopulmonary syndrome (HPS), portopulmonary hypertension (PPH) and hepatic hydrothorax (HH) are described in detail in this literature review. HPS is encountered in approximately 15% to 30% of the patients and its presence is associated with increase in mortality and also requires liver transplantation in many cases. PPH has been reported among 4%-8% of the patient with CLD who have undergone liver transplantation. The HH is another entity, which has the prevalence rate of 5% to 6% and is associated in the absence of cardiopulmonary disease. These clinical syndromes occur in similar pathophysiologic environments. Most treatment modalities work as temporizing measures. The ultimate treatment of choice is liver transplant. This clinical review provides basic concepts; pathophysiology and clinical presentation that will allow the clinician to better understand these potentially life-threatening complications. This article will review up-to-date information on the pathophysiology, clinical features and the treatment of the pulmonary complications among liver disease patients.

  8. Pulmonary complications of hepatic diseases.

    Science.gov (United States)

    Surani, Salim R; Mendez, Yamely; Anjum, Humayun; Varon, Joseph

    2016-07-14

    Severe chronic liver disease (CLD) may result from portal hypertension, hepatocellular failure or the combination of both. Some of these patients may develop pulmonary complications independent from any pulmonary pathology that they may have. Among them the hepatopulmonary syndrome (HPS), portopulmonary hypertension (PPH) and hepatic hydrothorax (HH) are described in detail in this literature review. HPS is encountered in approximately 15% to 30% of the patients and its presence is associated with increase in mortality and also requires liver transplantation in many cases. PPH has been reported among 4%-8% of the patient with CLD who have undergone liver transplantation. The HH is another entity, which has the prevalence rate of 5% to 6% and is associated in the absence of cardiopulmonary disease. These clinical syndromes occur in similar pathophysiologic environments. Most treatment modalities work as temporizing measures. The ultimate treatment of choice is liver transplant. This clinical review provides basic concepts; pathophysiology and clinical presentation that will allow the clinician to better understand these potentially life-threatening complications. This article will review up-to-date information on the pathophysiology, clinical features and the treatment of the pulmonary complications among liver disease patients. PMID:27468192

  9. Pulmonary rehabilitation and exercise in pulmonary arterial hypertension: An underutilized intervention

    OpenAIRE

    Sahni, Sonu; Capozzi, Barbara; Iftikhar, Asma; Sgouras, Vasiliki; Ojrzanowski, Marcin; Talwar, Arunabh

    2015-01-01

    Pulmonary arterial hypertension (PAH) is a rare and devastating disease characterized by progressive increases in pulmonary arterial pressure and pulmonary vascular resistance which eventually leads to right ventricular failure and death. Early thought process was that exercise and increased physical activity may be detrimental to PAH patients however many small cohort trials have proven otherwise. In addition to the many pharmaceutical options, exercise and pulmonary rehabilitation have also...

  10. Effect of home-based pulmonary rehabilitation in patients with idiopathic pulmonary fibrosis

    OpenAIRE

    Ozalevli Sevgi; Karaali Hayriye; Ilgin Duygu; Ucan Eyup

    2010-01-01

    Abstract Objective The aim of this study was to investigate the effects of a home-based pulmonary rehabilitation program on the functional outcome parameters in patients with idiopathic pulmonary fibrosis (IPF). Design A prospective study. Patients Seventeen patients diagnosed with IPF. Methods A home-based pulmonary rehabilitation program was carried out in 17 IPF patients for 12 weeks. Dyspnea severity during daily life activities (Medical Research Council Scale), pulmonary function (pulmon...

  11. Pulmonary function testing in infants with tetralogy of Fallot and absent pulmonary valve syndrome

    OpenAIRE

    2015-01-01

    Aim: Absent pulmonary valve syndrome (APVS) is found in 3-6% of patients with Tetralogy of Fallot (TOF). Along with findings of TOF, absence of pulmonary valve tissue results in aneurysmal dilatation of the main and branch pulmonary arteries compressing the trachea, main-stem, and intrapulmonary bronchi leading to obstructive airways disease. Our objective was to review pulmonary function tests (PFT) in TOF-APVS patients. Materials and Methods: Eight PFT were performed on five mechanically...

  12. Pulmonary hypertension in patients with combined pulmonary fibrosis and emphysema syndrome

    OpenAIRE

    Cottin, V; Le Pavec, J.; Prévot, G.; H. Mal; Humbert, M.; Simonneau, G; Cordier, J.-F.; Berezné, A.; Coëtmeur, D.; Danner-Boucher, I.; Funke, D; Israel-Biet, D.; Marchand, Eric; Mouthon, L

    2010-01-01

    This study aims to describe the haemodynamic and survival characteristics of patients with pulmonary hypertension in the recently individualised syndrome of combined pulmonary fibrosis and emphysema. A retrospective multicentre study was conducted in 40 patients (38 males; age 68±9 yrs; 39 smokers) with combined pulmonary fibrosis and emphysema, and pulmonary hypertension at right heart catheterisation. Dyspnoea was functional class II in 15%, III in 55% and IV in 30%. 6-min walk distance was...

  13. Pulmonary vascular-bronchial interactions: acute reduction in pulmonary blood flow alters lung mechanics

    OpenAIRE

    Schulze-Neick, I; Penny, D; Derrick, G; Dhillon, R; Rigby, M.; Kelleher, A.; Bush, A; Redington, A

    2000-01-01

    BACKGROUND—Postoperative pulmonary hypertension in children after congenital heart surgery is a risk factor for death and is associated with severe acute changes in both pulmonary vascular resistance and lung mechanics.
OBJECTIVE—To examine the impact of changes in pulmonary blood flow on lung mechanics in preoperative children with congenital heart disease, in order to assess the cause-effect relation of pulmonary vascular-bronchial interactions.
DESIGN—Prospective, cross sectional study.
SE...

  14. Invasive pulmonary aspergillosis complicating chronic obstructive pulmonary disease in an immunocompetent patient.

    Directory of Open Access Journals (Sweden)

    Ali Z

    2003-01-01

    Full Text Available Immunocompromised individuals are susceptible to pulmonary aspergillus infection, but invasive aspergillus infection is extremely rare in the presence of normal immunity. We report a case of invasive aspergillosis in an immunocompetent 63-year-old male with chronic obstructive pulmonary disease (COPD. Patients with COPD may be at risk for developing pulmonary aspergillus infection, which should be considered as a diagnostic possibility in patients with unresolving pulmonary infection.

  15. Regression of pulmonary artery hypertension due to development of a pulmonary arteriovenous malformation

    Science.gov (United States)

    Hasan, Ashfaq; Sastry, B.K.S.; Aleem, M.A.; Reddy, Gokul; Mahmood, Syed

    2014-01-01

    Idiopathic Pulmonary Hypertension (IPAH) is characterized by elevated pulmonary arterial pressure in the absence of an identifiable underlying cause. The condition is usually relentlessly progressive with a short survival in the absence of treatment.1 We describe a patient of IPAH in whom the pulmonary artery pressures significantly abated with complete disappearance of symptoms, following spontaneous development of a pulmonary arterio-venous malformation (PAVM). PMID:25443608

  16. Chronic intrauterine pulmonary hypertension increases main pulmonary artery stiffness and adventitial remodeling in fetal sheep

    OpenAIRE

    Dodson, R. Blair; Morgan, Matthew R.; Galambos, Csaba; Hunter, Kendall S.; Abman, Steven H.

    2014-01-01

    Persistent pulmonary hypertension of the newborn (PPHN) is a clinical syndrome that is characterized by high pulmonary vascular resistance due to changes in lung vascular growth, structure, and tone. PPHN has been primarily considered as a disease of the small pulmonary arteries (PA), but proximal vascular stiffness has been shown to be an important predictor of morbidity and mortality in other diseases associated with pulmonary hypertension (PH). The objective of this study is to characteriz...

  17. Non-invasive assessment of pulmonary blood supply after staged repair of pulmonary atresia.

    OpenAIRE

    Del Torso, S.; Kelly, M J; Kalff, V; Stellin, G; Mee, R B; Venables, A W

    1985-01-01

    Radionuclide studies were performed to determine pulmonary blood flow in six children who had undergone surgery for pulmonary atresia, ventricular septal defect, and hypoplastic pulmonary arteries with or without major aortopulmonary collateral arteries. Lung blood flow was assessed from both particle perfusion lung scans and the pulmonary and systemic phase of a radionuclide dynamic flow study. Five patients had perfusion defects identified on the particle perfusion lung scan. In three of th...

  18. Pulmonary Vascular Stiffness: Measurement, Modeling, and Implications in Normal and Hypertensive Pulmonary Circulations

    OpenAIRE

    Hunter, Kendall S.; Lammers, Steven R.; Shandas, Robin

    2011-01-01

    This article introduces the concept of pulmonary vascular stiffness, discusses its increasingly recognized importance as a diagnostic marker in the evaluation of pulmonary vascular disease, and describes methods to measure and model it clinically, experimentally, and computationally. It begins with a description of systems-level methods to evaluate pulmonary vascular compliance and recent clinical efforts in applying such techniques to better predict patient outcomes in pulmonary arterial hyp...

  19. Pulmonary Vascular Capacitance as a Predictor of Vasoreactivity in Idiopathic Pulmonary Arterial Hypertension Tested by Adenosine

    OpenAIRE

    Shafie, Davood; Dohaei, Abolfazl; AMIN, Ahmad; Taghavi, Sepideh; Naderi, Nasim

    2015-01-01

    Background: Acute pulmonary vasoreactivity testing has been recommended in the diagnostic work-up of patients with idiopathic pulmonary arterial hypertension (IPAH). Pulmonary arteriolar capacitance (Cp) approximated by stroke volume divided by pulmonary pulse pressure (SV/PP) is considered as an independent predictor of mortality in patients with IPAH. Objectives: We sought to evaluate any differences in baseline and adenosine Cp between vasoreactive and non-vasoreactive IPAH patients tested...

  20. Swimming training and pulmonary variables in women

    OpenAIRE

    Aydin, Gülsün; Koca, İsmail

    2014-01-01

    Most spirometry testing is done for patients with pulmonary problems not for general population samples (Enright et al., 2004) and not for the effect of training. Evaluation of the effect of exercise on diffusing capacity would be helpful to evaluate the ability of the pulmonary capillary bed to expand and increase its capacity to transfer gas during exercise (Wang, 2004). The purpose of this study was therefore to examine the effects of swimming technical skill training on pulmonary variable...

  1. The diagnostic management of suspected pulmonary embolism

    OpenAIRE

    Nijkeuter, Mathilde

    2007-01-01

    Pulmonary embolism is a potentially fatal disease in which early recognition and institution of anticoagulant treatment can prevent mortality. The diagnostic tools available to establish whether a patient has a pulmonary embolism were limited to pulmonary angiography and ventilation-perfusion scintigraphy. Both tests have considerable limitations. Helical CT evolved as a new technique in diagnosing PE and gained widespread interest but has been implemented rapidly, without appropriate assessm...

  2. Pulmonary actinomycosis in fine needle aspiration cytology

    OpenAIRE

    Patel Keyuri; Gupta Gurudutt; Shah Menka; Patel Purvesh

    2009-01-01

    Pulmonary actinomycosis is a rare bacterial lung disease caused by one of two types of bacteria, Actinomyces or Propioni. Pulmonary actinomycosis in the lung causes lung cavities, lung nodules, and pleural effusion. We report here a case of pulmonary actinomycosis that was diagnosed by fine needle aspiration cytology (FNAC). A 45 year-old male with a history of smoking and alcohol abuse, presented with complaints of cough with hemoptysis, right-sided chest pain, and fever of two months′...

  3. Pulmonary hypertension: diagnostic and therapeutic challenges

    OpenAIRE

    Fares, Wassim

    2015-01-01

    Isabel S Bazan, Wassim H Fares Department of Internal Medicine, Section of Pulmonary, Critical Care and Sleep Medicine, Yale University, New Haven, CT, USA Abstract: Pulmonary hypertension (PH) is a hemodynamic and pathophysiologic state that can be found in multiple conditions with associated symptoms of dyspnea, decreased exercise tolerance, and progression to right heart failure. The World Health Organization has classified PH into five groups. The first group is pulmonary arterial hyper...

  4. Pulmonary Hyalinizing Granuloma Mimicking Metastatic Lung Cancer

    OpenAIRE

    Nuri Düzgün; Ercan Kurtipek; Hıdır Esme; Meryem İlkay Eren Karanis; İsmet Tolu

    2015-01-01

    Pulmonary hyalinizing granuloma is a very rare benign condition, which usually manifests as solitary and sometimes as multiple pulmonary nodules. Deposition of immune complexes in the lung parenchyma due to hypersensitivity reactions is implicated in the etiology of pulmonary hyalinizing granuloma. A 59-year-old female patient who presented to our clinic with complaints of chest pain and cough had bilateral, multiple, and rounded lesions with regular margins suggesting metastatic lung disease...

  5. Metabolomic Heterogeneity of Pulmonary Arterial Hypertension

    OpenAIRE

    Zhao, Yidan; Peng, Jenny; Lu, Catherine; Hsin, Michael; Mura, Marco; Wu, Licun; Chu, Lei; Zamel, Ricardo; Machuca, Tiago; Waddell, Thomas; Liu, Mingyao; Keshavjee, Shaf; Granton, John; de Perrot, Marc

    2014-01-01

    Although multiple gene and protein expression have been extensively profiled in human pulmonary arterial hypertension (PAH), the mechanism for the development and progression of pulmonary hypertension remains elusive. Analysis of the global metabolomic heterogeneity within the pulmonary vascular system leads to a better understanding of disease progression. Using a combination of high-throughput liquid-and-gas-chromatography-based mass spectrometry, we showed unbiased metabolomic profiles of ...

  6. Disseminated cysticercosis with pulmonary and cardiac involvement

    OpenAIRE

    Jain Bharat; Sankhe Shilpa; Agrawal Mukta; Naphade Prashant

    2010-01-01

    Pulmonary and cardiac involvement by cysticercosis is extremely rare, and is usually asymptomatic. We report the case of a 19-year-old boy who presented with a history of headache and vomiting and was found to have disseminated cysticercosis with pulmonary and cardiac involvement; the emphasis is on the rare occurrence of pulmonary, cardiac, pancreatic, intraocular, and extradural spinal canal involvement in the same patient. This case demonstrates the extent to which cysticercosis can be dis...

  7. Pulmonary alveolar proteinosis in a cat

    OpenAIRE

    Szatmári, Viktor; Teske, Erik; Peter G. J. Nikkels; Griese, Matthias; de Jong, Pim A.; Grinwis, Guy; Theegarten, Dirk; Veraa, Stefanie; van Steenbeek, Frank G.; Drent, Marjolein; Bonella, Francesco

    2015-01-01

    BACKGROUND: Pulmonary alveolar proteinosis is an extremely rare lung disease in animals and humans. It is characterized by the deposition of a large amount of phospholipoproteinaceous material in the alveoli. There are several possible etiologies, both congenital and acquired. Alveolar macrophages play an important role in the clearance of surfactant. This is the first report of pulmonary alveolar proteinosis in the feline species. CASE PRESENTATION: Pulmonary alveolar proteinosis was diagnos...

  8. The impact of emphysema in pulmonary fibrosis

    OpenAIRE

    Vincent Cottin

    2013-01-01

    Several groups have described a syndrome in which idiopathic pulmonary fibrosis (IPF) coexists with pulmonary emphysema. This comes as no surprise since both diseases are associated with a history of exposure to cigarette smoke. The syndrome of combined pulmonary fibrosis and emphysema (CPFE) is characterised by upper lobe emphysema and lower lobe fibrosis. Physiological testing of these patients reveals preserved lung volume indices contrasted by markedly impaired diffusion capacity. The inc...

  9. Pulmonary hypertension in autoimmune rheumatic diseases

    OpenAIRE

    L. Massironi; R. Cossutta; Massarotti, M.; Marasini, B; A. Mantero

    2011-01-01

    Objective. Pulmonary hypertension is a severe and rapidly progressive disease, particularly frequent in patients with rheumatic diseases. The aims of this study were the following: to determine the prevalence of pulmonary hypertension in Italian patients with autoimmune rheumatic diseases, and to evaluate if the presence of a rheumatic disease in general, or of a specific autoimmune rheumatic disease, is a risk factor for the development of pulmonary hypertension. Patients and Methods. One hu...

  10. Toward Therapeutic Pulmonary Alveolar Regeneration in Humans

    OpenAIRE

    Massaro, Donald; Massaro, Gloria DeCarlo

    2006-01-01

    In humans, age results in loss of pulmonary alveoli; menopause accelerates loss of diffusing capacity, an index of alveolar surface area; and disease (e.g., chronic obstructive pulmonary disease) results in loss of alveoli. Thus, an important goal for investigators is to generate knowledge that allows induction of pulmonary alveolar regeneration in humans. Our enthusiasm for this goal and our assessment of its feasibility are based on work in several laboratories over the last decade that has...

  11. Pulmonary involvement in primary biliary cirrhosis.

    OpenAIRE

    Rodriguez-Roisin, R.; Pares, A; Bruguera, M; Coll, J; Picado, C.; Agusti-Vidal, A; Burgos, F.; Rodes, J

    1981-01-01

    The association of pulmonary fibrosis and primary biliary cirrhosis (PBC) remains controversial. To determine the frequency of pulmonary fibrosis in PBC, a carefully selected series of 14 PBC patients, seven patients with Sicca complex, and 14 control subjects have been studied. Seven of the 14 patients with PBC had Sjögren's syndrome, four of whom had some clinical evidence of pulmonary disease. Evaluation of ventilatory capacity, gas transfer factor, arterial blood gases, and lung mechanics...

  12. Anesthetic Management of Pediatric Pulmonary Arterial Hypertension

    Directory of Open Access Journals (Sweden)

    Mediha Turktan

    2015-06-01

    Full Text Available Pulmonary arterial hypertension is the most important cause of morbidity and mortality associated with congenital heart disease. Patients in this group have a greater peroperative cardiovascular risks including cardiac arrest, pulmonary hypertensive crisis and death compared the normal population. The main purpose of anesthesia is to avoid increased pulmonary vascular resistance and myocardial depression. [Archives Medical Review Journal 2015; 24(2.000: 149-158

  13. Cardiovascular magnetic resonance in pulmonary hypertension

    OpenAIRE

    Bradlow William M; R Gibbs J Simon; Mohiaddin Raad H

    2012-01-01

    Abstract Pulmonary hypertension represents a group of conditions characterized by higher than normal pulmonary artery pressures. Despite improved treatments, outcomes in many instances remain poor. In recent years, there has been growing interest in the use of Cardiovascular Magnetic Resonance (CMR) in patients with pulmonary hypertension. This technique offers certain advantages over other imaging modalities since it is well suited to the assessment of the right ventricle and the proximal pu...

  14. Managing comorbidities in idiopathic pulmonary fibrosis

    OpenAIRE

    Fulton BG; Ryerson CJ

    2015-01-01

    Blair G Fulton,1 Christopher J Ryerson1,2 1Department of Medicine, 2Centre for Heart Lung Innovation, University of British Columbia, Vancouver, BC, Canada Abstract: Major risk factors for idiopathic pulmonary fibrosis (IPF) include older age and a history of smoking, which predispose to several pulmonary and extra-pulmonary diseases. IPF can be associated with additional comorbidities through other mechanisms as either a cause or a consequence of these diseases. We review the literature rega...

  15. Pulmonary Hypertension in Parenchymal Lung Disease

    OpenAIRE

    Iraklis Tsangaris; Georgios Tsaknis; Anastasia Anthi; Orfanos, Stylianos E

    2012-01-01

    Idiopathic pulmonary arterial hypertension (IPAH) has been extensively investigated, although it represents a less common form of the pulmonary hypertension (PH) family, as shown by international registries. Interestingly, in types of PH that are encountered in parenchymal lung diseases such as interstitial lung diseases (ILDs), chronic obstructive pulmonary disease (COPD), and many other diffuse parenchymal lung diseases, some of which are very common, the available data is limited. In this ...

  16. Monocyte and macrophage regulation of pulmonary fibrosis

    OpenAIRE

    Gibbons, Michael A.

    2010-01-01

    In this thesis I examined the role of circulating monocytes and lung macrophages in the pathogenesis of the early fibrotic, progressive fibrotic and resolution phases of pulmonary fibrosis. Pulmonary fibrosis with destruction of lung architecture and consequent respiratory failure and death represents a massive worldwide health burden. Although idiopathic pulmonary fibrosis (IPF) is the archetypal and most common cause of lung fibrosis, numerous respiratory diseases can prog...

  17. Acute effect of tetrandrine pulmonary targeting microspheres on hypoxic pulmonary hypertension in rats

    Institute of Scientific and Technical Information of China (English)

    程德云; 陈文彬; 莫晓能

    2002-01-01

    Objective To assess the effect of tetrandrine (Tet) pulmonary targeting microspheres on hypoxic pulmonary hypertension and evaluate its selective action on pulmonary circulation. Methods Twenty rats were exposed to hypoxic conditions for 3 weeks. Ten rats were used as normoxic controls. We administered Tet pulmonary targeting microspheres to 10 hypoxic rats and Tet aqueous solution to 10 hypoxic rats and the 10 control rats. Mean pulmonary arterial pressure (mPAP) was measured by a right cardiac catheterization, and mean systemic blood pressure (mSBP) was measured by left femoral catheterization. Results Rats exposed to hypoxia developed pulmonary hypertension. The decrease in mPAP in rats treated with Tet pulmonary targeting microspheres was significantly greater than that in rats receiving Tet aqueous solution (P<0.05), and the effects were longer with Tet pulmonary targeting microspheres. Moreover, Tet pulmonary targeting microspheres, unlike Tet aqueous solution, did not decrease mSBP. Conclusion Tet pulmonary targeting microspheres were more effective than Tet aqueous solution in treating hypoxic pulmonary hypertension and acted selectively on the pulmonary circulation.

  18. Pulmonary hyalinizing granuloma: a rare cause of a solitary pulmonary nodule.

    Science.gov (United States)

    Eschelman, D J; Blickman, J G; Lazar, H L; O'Keane, J C; Schechter, M

    1991-04-01

    Pulmonary hyalinizing granulomata are unusual, noninfectious lesions of the lung of uncertain etiology that probably represent an exaggerated immune response. They present radiographically as noncalcified solitary or multiple pulmonary nodules, thereby mimicking primary or metastatic malignancy. The article discusses a case of this rare entity that presented as a solitary pulmonary nodule. PMID:1713275

  19. Case report: Pulmonary syphilis mimicking pulmonary hematogenous metastases on chest CT and integrated PET/CT

    Directory of Open Access Journals (Sweden)

    Hyung Jun Kim

    2011-01-01

    Full Text Available We report a case of syphilis with pulmonary involvement. Chest CT scan and 18 F-fluorodeoxyglucose (FDG PET/CT showed multiple pulmonary nodules mimicking pulmonary hematogenous metastases. This was confirmed on follow-up images that showed therapeutic response to penicillin.

  20. Case report: Pulmonary syphilis mimicking pulmonary hematogenous metastases on chest CT and integrated PET/CT

    International Nuclear Information System (INIS)

    We report a case of syphilis with pulmonary involvement. Chest CT scan and 18F-fluorodeoxyglucose (FDG) PET/CT showed multiple pulmonary nodules mimicking pulmonary hematogenous metastases. This was confirmed on follow-up images that showed therapeutic response to penicillin