WorldWideScience

Sample records for left-lung hypoplasia left

  1. Left Pulmonary Artery Thrombosis in a Neonate with Left Lung Hypoplasia

    Directory of Open Access Journals (Sweden)

    Matthias P. van Schendel

    2012-01-01

    Full Text Available Thrombotic events in neonates may origin from fetal life. A 4-day-old newborn infant with a family history of heterozygous type 1 protein C deficiency was diagnosed with left lung hypoplasia and left pulmonary artery thrombosis. Its source was prenatally closed ductus arteriosus. Surgical removal of the thrombus was performed.

  2. A neonate with left pulmonary artery thrombosis and left lung hypoplasia: a case report

    Directory of Open Access Journals (Sweden)

    ElHassan Nahed O

    2010-08-01

    Full Text Available Abstract Introduction Spontaneous intrauterine arterial thrombosis and congenital pulmonary hypoplasia are rare conditions and have not been reported to occur together. The literature rather includes two reports of babies with neonatal pulmonary artery occlusion and post-infarction cysts of the lungs. Case presentation We report a case of a live Caucasian male newborn with left lung hypoplasia that occurred in association with left pulmonary artery thrombosis. Despite a critical neonatal course, including extracorporeal membrane oxygenation, this infant is alive and well at 18 months of age without any neurodevelopmental sequelae or reactive airway disease. Conclusion This association suggests the possibility of an intrauterine vascular event between the fifth and eighth weeks of gestation during early pulmonary artery and lung development.

  3. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog.

  4. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi.

    Science.gov (United States)

    Oguz, Berna; Alan, Serdar; Ozcelik, Ugur; Haliloglu, Mithat

    2009-09-01

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study.

  5. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi

    Energy Technology Data Exchange (ETDEWEB)

    Oguz, Berna; Haliloglu, Mithat [Hacettepe University Faculty of Medicine, Department of Radiology, Ankara (Turkey); Alan, Serdar; Ozcelik, Ugur [Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara (Turkey)

    2009-09-15

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study. (orig.)

  6. Combined spinal epidural anesthesia for cesarean section in a patient with left lung agenesis.

    Science.gov (United States)

    Babita, G; Rashmi, M; Deb, K

    2001-04-01

    Agenesis of the lung is a rare developmental defect characterized by complete absence of one lung, or hypoplasia of one or both lungs. The majority of reported cases have been associated with other congenital anomalies. It is usually detected in childhood as a result of either pulmonary symptoms or associated anomalies. Although pulmonary agenesis has been reported in adults, there is no report of the management of a pregnant patient for cesarean section in the anesthetic literature. We report the management of a 23-year-old pregnant female at 36 weeks' gestation with oligohydramnios and left lung agenesis for elective cesarean section. She presented with a history of repeated chest infection and was found to have restrictive lung function. She had no other congenital anomalies. Combined spinal epidural anesthesia was administered for cesarean section. The intraoperative course was uneventful except for bradyarrhythmias followed by tachyarrhythmias on manipulation of the uterus. She was given low dose epidural morphine with local anesthetic and intramuscular diclofenac for postoperative analgesia. We believe that normal pregnancy can safely be undertaken in the presence of left lung agenesis. In view of associated congenital anomalies in more than 50% of the cases, anesthetic management should include a particularly careful survey of other systems. The patient should otherwise be managed like any patient with limited pulmonary reserve. Combined spinal epidural anesthesia is safe and appropriate for such patients.

  7. Repair of a ventricular septal defect in a patient with left lung agenesis.

    Science.gov (United States)

    Guo, Hong-Wei; Pan, Shi-Wei; Song, Yun-Hu; Hu, Sheng-Shou

    2011-09-01

    Congenital heart disease combined with lung agenesis is extremely rare. We report a case of a 5-year-old female with a ventricular septal defect (VSD) and left lung agenesis with severe pulmonary hypertension who underwent successful closure of the VSD. 

  8. Spontaneous rupture of a normal spleen following bronchoplastic left lung lower lobectomy.

    Science.gov (United States)

    Stupnik, Tomaz; Vidmar, Stanko; Hari, Petra

    2008-04-01

    Rupture of the spleen is a common event associated with trauma, infectious diseases, neoplasia and many systemic disorders affecting the reticuloendothelial system. A rare subtype of rupture occurring spontaneously and arising from a normal spleen was recognized as a distinct clinicopathologic entity. It has been reported in association with trivial insults such as vomiting and coughing. We report a case of a patient with spontaneous rupture of a normal spleen observed after severe coughing on the 3rd postoperative day following bronchoplastic left lung lower lobectomy combined with S4, S5 segmentectomy.

  9. Bronchial compression by an enlarged left atrium in infants; a cause of hypovascularity of the left lung

    Energy Technology Data Exchange (ETDEWEB)

    Corr, L.; Hallidie-Smith, K.A.; McCarthy, P.A.; Lavender, J.P.

    1988-09-01

    In three infants seen recently at our institution we noted signs of compression of the left main bronchus associated with enlarged left atria. None of our cases demonstrated the more usual signs of hyperinflation which are a hyperlucent lung field, depressed hemidiaphragm and mediastinal shift away from the affected side. In addition, hypoperfusion of the left lung was noted in each case. We believe that bronchial compression due to an enlarged left atrium, with consequent hypoxic vasoconstriction is a clinically significant entity, which is not well described and may be unappreciated in infants in whom the typical signs of hyperinflation are absent.

  10. The orthotopic left lung transplantation in rats: a valuable experimental model without using cuff technique.

    Science.gov (United States)

    Zhang, Qing-chun; Wang, Dian-jun; Yin, Ni; Yin, Bang-liang; Fang, Rui-xin; Xiao, Xue-jun; Wu, Yue-Heng

    2008-11-01

    Advances in the field of clinical lung transplantation must rely on observations made in animal models. In this study, we introduced a new procedure in the rat, orthotopic left lung transplantation without using the cuff technique, in which the donor pulmonary artery, pulmonary vein, and membranous parts of the bronchus were anastomosed continuously in the lumen using a mattress suture under a surgical microscope; meanwhile, a second, low-pressure perfusion through the pulmonary artery and turnover of the vascular stump were made, which also made the vessel anastomosis easy. Transplantations were completed in 68 rats (89.5%), the mean time used for suturing the left lung hilar structure was 23.5 +/- 4.6 min. All lung grafts had good life-sustaining function because of there being no cuff-induced granulation tissue in bronchial anastomotic stoma, and three out of 12 allografts were observed with active bronchiolitis obliterans lesions at 8 weeks after transplantation. This model is a simple, valuable experimental model for studying lung transplantation and new therapies for preventing acute or chronic rejection.

  11. Bronchial anatomy of left lung: a study of multi-detector row CT.

    Science.gov (United States)

    Zhao, Xinya; Ju, Yuanrong; Liu, Cheng; Li, Jianfeng; Huang, Min; Sun, Jian; Wang, Tao

    2009-02-01

    Familiarity with prevailing pattern and variations in the bronchial tree is not only essential for the anatomist to explain bronchial variation in bronchial specimens, but also useful for guiding bronchoscopy and instructing pulmonary segmental resection. The purpose of this study was designed to demonstrate various branching patterns of left lung with 3D images, with special attention given to identify the major types at transverse thin-section CT. Two hundred and sixteen patients with routine thorax scans were enrolled. The images of bronchial tree, virtual bronchoscopy were reconstructed using post-processing technique of multi-detector row CT. We attempted to classify the segmental bronchi by interpreting the post-processing images, and identified them in transverse thin-section CT. Our results showed that the segmental bronchial ramifications of the left superior lobe were classified into three types mainly, i.e., common stem of apical and posterior segmental bronchi (64%, 138/216); trifurcation (23%, 50/216); common stem of apical and anterior segmental bronchi (10%, 22/216), and they could be identified at two typical sections of transverse thin-section CT. There were two major types in left basal segmental bronchi, i.e., bifurcation (75%, 163/216), trifurcation (18%, 39/216), and they could also be identified at two typical sections of transverse thin-section CT. In conclusion, our study have offered simplified branching patterns of bronchi and demonstrated various unusual bronchial branching patterns perfectly with 3D images, and have also revealed how to identify the main branching patterns in transverse thin-section CT.

  12. Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies.

    Science.gov (United States)

    Palma, G; Giordano, R; Russolillo, V; Vosa, C

    2010-10-01

    This report describes a rare case of left pulmonary agenesis associated with congenital diaphragmatic hernia and congenital heart disease in a 2-year-old child with pulmonary hypertension. We performed direct radical correction of the congenital heart defect. The postoperative course was challenging but without major complications.

  13. AB049. Complete atelectasis of the left lung from endobronchial tuberculosis: case presentation in a refugee hotspot

    Science.gov (United States)

    Bourgani, Irini; Tsaroucha, Emily G.; Kerasiotis, Charalambos; Ralli, Ekaterini; Fotinakopoulos, Athanasios; Athanasopoulou, Athanasia; Papavasiliou, Apostolos; Rapti, Aggeliki

    2016-01-01

    Tuberculosis has not been eradicated despite the huge effort of the medical community, due to immigration and AIDS. The large amount of immigrants in Greece and their subsequent residency in specific reception centers (Hotspots) require thorough evaluation of their symptoms in order to prohibit highly contagious diseases like tuberculosis. A 28-year-old female refugee from Afghanistan, with a free medical history, came in Greece and stayed in Samos. Due to a steadily worsening dyspnea for 2 months and cough with purulent sputum antibiotics/inhaled bronchodilators were prescribed. An X-ray revealed a mild enlargement of the left hilum. The patient was transferred and admitted to our department due to respiratory failure and fever. The CXR revealed a large opacity of the left lung and CT complete atelectasis of the LUL and LLL with presence of semiliquid secretions in the left main bronchus. There was leukocytosis (polymorphonuclear). Ampicillin/sulbactam, azithromycin and bronchodilators were firstly prescribed. Blood samples cultured no microorganism, tests for viral hepatitis and HIV were negative. The bronchoscopy revealed white, soft plaques in the mucosa of the trachea and the left main bronchus. The endobronchial biopsies were negative for malignancy and the cultures from bronchial secretions were negative for bacterial microorganisms and mycobacterium. The molecular test (PCR) in bronchial secretions detected M. tuberculosis complex. The antibiotics were discontinued and an anti-TB treatment was set (HREZ). Due to the detection of isoniazid resistance, moxifloxacin and amikacin were added to the treatment. The patient was transferred to MDR-TB Unit and discharged 2 months later with a marked improvement. She went to Germany with instructions for treatment continuation. Tuberculosis can imitate any disease. High suspicion and prompt diagnosis are required in order not only to cure but also to eliminate the spread of this highly contagious and fatal disease. A

  14. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report.

    Science.gov (United States)

    Khadir, Mohammed Abdul; Narayana, Ganesh; Ramagopal, Ganavi; Nayar, Pradeep G

    2016-12-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future.

  15. Isolated left ventricular apical hypoplasia with infundibular pulmonary and aortic stenosis: A rare combination

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Jin Il; Jeong, Yeon Joo; Lee, Gee Won; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)

    2013-12-15

    Isolated left ventricular (LV) apical hypoplasia is a rare congenital cardiac anomaly which is not accompanied by other cardiac abnormalities, with the exception of two cases. We report a case of a 33-year-old male patient with isolated LV apical hypoplasia combined with infundibular pulmonary stenosis and aortic stenosis. We review a literature focusing on the characteristic magnetic resonance features and combined cardiac abnormalities.

  16. Establishment and Improvement of SD Rat Model of Left Lung Transplantation%SD 大鼠左肺移植模型的建立与改进

    Institute of Scientific and Technical Information of China (English)

    戴斌; 唐建; 吴起才; 黄磊; 古亮

    2015-01-01

    目的:改进大鼠原位左肺移植技术,建立快速、安全、可重复性强的大鼠肺移植动物模型的方法。方法SPF 级健康雄性 SD 大鼠90只,体质量300~350 g。其中60只作为供、受体,受体略大于供体,供、受体间体质量差不超过20 g,运用三袖套法吻合左肺动、静脉及支气管以建立大鼠左肺移植模型,移植成功后的受体在48 h 后取肺静脉血进行血气分析(PO2、PCO2);30只为对照组,肺静脉取血进行血气分析。观察记录大鼠肺移植供肺获取、套管及受体移植时间;移植肺血液循环及膨胀情况;移植肺与对照组血气分析结果比较。结果完成大鼠肺移植手术30例,成功27例,失败3例(肺静脉撕裂1例,脱机失败1例,肺动脉扭转1例)。大鼠供肺获取时间为(13.5±2.0)min,供肺套管时间为(15.5±2.5)min;游离大鼠受体左侧肺门部动、静脉及支气管并套线、结扎时间为(19.2±2.0)min;吻合时间为(18.5±4.0)min。在先开放肺动脉血流,接着开放肺静脉血流后,移植的左侧肺叶颜色均匀一致的红润,左肺血流得到充分的灌注,静脉充盈良好,回流畅通;恢复机械通气后,27例移植肺膨胀良好。左肺移植成功48 h 后,肺移植大鼠右侧肺门夹闭5 min 后 PO2为(7.88±0.84)kPa,PCO2为(6.67±1.09)kPa;对照组大鼠夹闭右侧肺门5 min 后肺静脉 PO2为(8.55±0.97)kPa,PCO2为(6.20±0.88)kPa。2组 PO2比较差异有统计学意义(P <0.05),PCO2比较差异无统计学意义(P >0.05)。结论改进后的肺移植技术可为大鼠肺移植的相关研究提供稳定、可靠及可重复的动物模型。%ABSTRACT:Objective To improve the technique of orthotopic left lung transplantation in rats, and to establish a fast,safe and repeatable method for rat lung transplantation.Methods Ninety healthy male SPF

  17. Isolated Left Ventricular Apical Hypoplasia with Right Ventricular Outflow Tract Obstruction: A Rare Combination.

    Science.gov (United States)

    Zhao, Yonghui; Zhang, Jiaying; Zhang, Jing

    2015-09-01

    Isolated left ventricular (LV) apical hypoplasia is a unusual and recently recognized congenital cardiac anomaly. A 19-year-old man was found to have an abnormal ECG and cardiac murmur identified during a routine health check since joining work. His ECG revealed normal sinus rhythm, right-axis deviation, poor R wave progression, and T wave abnormalities. On physical examination, a 2/6~3/6 systolic murmur was heard at the second intercostal space along the left sternal border. Subsequent echocardiography and cardiac magnetic resonance imaging confirmed the LV apical hypoplasia. Of note, we first found that LV apical hypoplasia was accompanied by RV outflow tract obstruction due to exaggerated rightward bulging of the basal-anterior septum during systole. A close follow-up was performed for the development of heart failure, pulmonary hypertension, and potentially tachyarrhythmia.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. Improvement of rat model of orthotopic left lung transplantation%改良三袖套吻合法建立大鼠左肺原位移植模型及其鉴定

    Institute of Scientific and Technical Information of China (English)

    朱宏伟; 吴镜湘; 徐美英

    2011-01-01

    Objective To improve the cuff-like vessel anastomosis technique-based rat model of lung transplantation, and establish a simple and stable rat model of orthotopic left lung transplantation. Methods Based on preliminary experiments,improvement was made from cuff-like vessel anastomosis technique-based rat model of lung transplantation on the following aspects: lungs were extracted from donors through median sternotomy, and were perfused through cut at the cone of the pulmonary artery with low pressure; blood vessel clamps were used to fix the rear part of pipe; micro left auricular clamps were used to clamp lung hilum instead of removing “sick lung” to complete tallies; respiratory tract management was enhanced. The new model was evaluated by successful rate of operation, time of operation, transplanted lung function and pathological changes. Results Ten consecutive rat models of orthotopic left lung transplantation were completed, with the successful rate of 80%. The time of donor lung perfusion-harvest, donor lung vessel anastomosis and recipient vessel anastomosis was (12±2) min, (18 ± 3) min and (31 ± 3) min, respectively. The oxygenation index 15 min after reperfusion was significantly higher than that 30 min after single lung ventilation (P <0.05). The typical pathological changes of ischemiareperfusion injury were confirmed by pathological examinations 2 h after reperfusion. Conclusion The improved rat model of orthotopic left lung transplantation has been successfully established, which is simple and effective.%目的 对三袖套吻合法建立的大鼠肺移植模型进行改进,建立操作简便和稳定有效的大鼠左肺原位移植模型.方法 在预实验的基础上,对三袖套吻合法建立的大鼠肺移植模型进行以下改进:供体采用胸骨正中切口,经肺动脉圆锥处进行低压肺灌注;制作"袖套"时用无损伤血管夹固定套管尾部;套入"袖套"时用无创显微心耳钳钳夹住左肺门,在不离

  20. Congenital optic tract hypoplasia.

    Science.gov (United States)

    Hatsukawa, Yoshikazu; Fujio, Takahiro; Nishikawa, Masanori; Taylor, David

    2015-08-01

    We report a case of isolated unilateral optic tract hypoplasia, described only twice previously. Bilateral optic disk hypoplasia was seen ophthalmoscopically and visual field studies showed an incongruous right homonymous hemianopia. Magnetic resonance imaging showed bilateral hypoplasia of both optic nerves and the left optic tract. Spectral domain optical coherence tomography mapping correlated well with the visual field studies.

  1. Adult presentation of symptomatic left lung agenesis.

    Science.gov (United States)

    Kaya, Omer; Gulek, Bozkurt; Yilmaz, Cengiz; Soker, Gokhan; Esen, Kaan; Akin, Mehmet Ali; Dilek, Okan

    2017-03-01

    Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during adulthood.

  2. Adult presentation of symptomatic left lung agenesis

    OpenAIRE

    Kaya, Omer; Gulek, Bozkurt; Yilmaz, Cengiz; Soker, Gokhan; Esen, Kaan; Akin, Mehmet Ali; Dilek, Okan

    2017-01-01

    Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during ad...

  3. Adult presentation of symptomatic left lung agenesis

    Directory of Open Access Journals (Sweden)

    Omer Kaya, MD

    2017-03-01

    Full Text Available Pulmonary agenesis is a rarely encountered congenital anomaly, and its average prevalence is about 1 in 100,000 births. Anomalies of the cardiovascular, musculoskeletal, gastrointestinal, or genitourinary systems may accompany in nearly half of the cases. The diagnosis of pulmonary agenesis is usually made during childhood, but the diagnosis may be delayed until adulthood in case of an absence of comorbid anomalies . Herein, we present a case of pulmonary agenesis that was diagnosed during adulthood.

  4. Ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia.

    Science.gov (United States)

    Malik, Rabiya; Zilberman, Mark V; Tang, Liwen; Miller, Susan; Pandian, Natesa G

    2015-03-01

    Ectopia cordis, defined as partial or complete displacement of the heart outside of the thoracic cavity, is a rare congenital malformation. If not surgically corrected during the early years of life, ectopia cordis can prove to be a fatal abnormality. However, due to the presence of multiple intracardiac and extracardiac malformations, a corrective surgery might not always be successful. The pathology of ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia is discussed, highlighting the complexities involved in such a rare disorder.

  5. [A 2-month-old child with complex tracheal hypoplasia].

    Science.gov (United States)

    De Cloedt, L; Papadopoulos, J; Corouge, P; Khalil, T; Van Laer, P

    2013-12-01

    We describe the case of a 2-month-old child with complex tracheal hypoplasia with bilateral bronchial hypoplasia and left pulmonary hypoplasia. Tracheal hypoplasia is complex when it is associated with critical stenosis, cricoid stenosis, bronchial hypoplasia, tracheal bronchus, or esophageal atresia with severe tracheomalacia. Slide tracheoplasty is the gold standard treatment for the complex tracheal hypoplasia.

  6. Late course shrinking gross tumor volume (GTV) and boost radiotherapy for a special left lung cancer patient whose right lung was resected: a case report%右肺全切患者左肺中心型肺癌后程缩野加量放疗后长期存活1例报道

    Institute of Scientific and Technical Information of China (English)

    Shaohui Cheng; Zhanzhao Fu; Tao Gu

    2012-01-01

    We reported a special case of a locally advanced squamous cell carcinoma of the left lung. Due to pulmonary tuberculosis, the patient had underwent a complete right-side pulmonary lobectomy 20 years ago. Left lung supports his life, he is unable to carry on an operation treatment, so he accepted radiotherapy. Firstly, we defined gross tumor volume (GTV1) by CT simulation location, three-dimensional conformal radiotherapy (3D-CRT) was used until tumor dose reached 50 Gy/25 f. Secondly, by repeating the planning CT scan, defined GTV2, continued to radiotherapy by 2.5 Gy/f until the dose was 65 Gy/31 f. Using the same method for third CT scan, defined GTV3, continued to radiotherapy by 3 Gy/f until the total dose was 74 Gy/34 f. After radiotherapy, the patient acquired complete response and he had no obvious side-effect of radiotherapy. There has been no recurrence for 5 years now.

  7. Severe stenosis of a long tracheal segment, with agenesis of the right lung and left pulmonary arterial sling.

    Science.gov (United States)

    Munro, Hamish M; Sorbello, Andrea M C; Nykanen, David G

    2006-02-01

    A baby presented at term with respiratory distress was managed with extracorporeal membrane oxygenation. Bronchoscopy revealed tracheal hypoplasia, complete tracheal rings, and agenesis of the right main bronchus. Echocardiography showed a left pulmonary arterial sling arising from the proximal part of the right pulmonary artery. Cardiac catheterization demonstrated abnormal pulmonary vasculature in the left lung which would have prevented survival, even after surgical repair. Diagnostic catheterization was important in delineating the anatomy, and aided in the decision not to proceed with surgical repair.

  8. 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.

  9. [Acute damage to the myocardium and left lung is a complication of high-frequency percutaneous thermoablation of solitary metastasis of renal cancer into the liver (a clinical observation)].

    Science.gov (United States)

    Tipisev, D A; Gorobets, E S; Agapov, A A; Zotov, A V; Kosyrev, V Iu

    2005-01-01

    The paper describes a case of severe complication of radio-frequency percutaneous thermoablation of renal metastasis into the liver, which occurred in a young woman with the intact cardiovascular system and manifested itself in the development of alveolar edema of the lung and acute dilation of the stomach. Pulmonary edema resulted from left ventricular myocardial and pulmonary parenchymal lesions and acute mitral valvular insufficiency. The authors' considerations as to the possible cause and mechanisms of development of this life-threatening complication first described in the literature are also given.

  10. Cerebellar Hypoplasia

    Science.gov (United States)

    ... 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 speech delay, problems with walking ...

  11. Congenital Agenesis of the Left Lung: A Rare Case

    Directory of Open Access Journals (Sweden)

    Tülin Durgun Yetim

    2011-01-01

    Full Text Available Pulmonary agenesis is a rare congenital anomaly, the etiology of which is not clearly known. Other systemic comorbidities such as cardiovascular, gastrointestinal, musculoskeletal, and urogenital system anomalies can be observed in more than half of the patients. It is usually diagnosed during childhood. Diagnosis in adulthood is very rare. We present a case of pulmonary agenesis diagnosed in an adult.

  12. Condylar Aplasia and Hypoplasia: A Rare Case

    Directory of Open Access Journals (Sweden)

    Peeyush Shivhare

    2013-01-01

    Full Text Available Aplasia of condyle is very rare, when this condition not seen as a part of a syndrome. We report a case of condylar aplasia on the right side and hypoplasia on the left side in a 21-year-old female. The patient reported to the department with a chief complaint of underdeveloped lower jaw. Clinical examination, conventional radiographs, and 3D CBCT images revealed complete absence of condyle on the right side and hypoplasia on the left side.

  13. A case of amblyopia with contralateral optic nerve hypoplasia.

    Science.gov (United States)

    Frantz, Kelly A; Pang, Yi

    2013-09-01

    We describe an unusual case of unilateral optic nerve hypoplasia (ONH) in a patient with contralateral anisometropic/strabismic amblyopia. A seven-year-old boy presented with visual acuities of 6/12 R and 6/18 L and eccentric fixation in the left eye. Cycloplegic retinoscopy was R +1.50/-0.50 × 180 and L +5.25 DS. Funduscopy revealed optic nerve hypoplasia of the right eye. The patient fixated with his better-seeing right eye, despite the optic nerve hypoplasia. His reduced vision may be attributed to optic nerve hypoplasia in the right eye and amblyopia in the left. Although optic nerve hypoplasia can occur with ipsilateral amblyopia, we believe this is the first reported case of unilateral optic nerve hypoplasia in the fellow eye of an amblyopic patient.

  14. [Maxillary sinus hypoplasia].

    Science.gov (United States)

    Plaza, G; Ferrando, J; Martel, J; Toledano, A; de los Santos, G

    2001-03-01

    Maxillary sinus hypoplasia is rare, with an estimated prevalence of 1-5%. Out of the CT scans performed in sinusal patients between March 1998 and June 1999, we report on 4 isolated maxillary sinus hypoplasia, 4 maxillary sinus hypoplasia associated to concha bullosa, and 10 isolated conchae bullosas. All cases were evaluated by nasosinusal endoscopy and CT scan. Size, location and uni/bilateral presentation of concha bullosa is correlated to maxillary sinus hypoplasia presence, specially with regards to uncinate process presence, medial or lateral retraction. The pathogenesis of maxillary sinus hypoplasia is reviewed, and its relation to concha bullosa, evaluating how this could explain some cases of the so called chronic maxillary sinus atelectasia, as an acquired and progressive variant of maxillary sinus hypoplasia in adults.

  15. The first rib hypoplasia and the aberrant pulmonary artery branch detected by three-dimensional computed tomography in a surgical case with apical lung cancer, a case report.

    Science.gov (United States)

    Sugiura, Yasoo; Fujimoto, Hiroyuki; Naruke, Masao; Hashizume, Toshinori; Kaseda, Shizuka; Nemoto, Etsuo

    2017-01-11

    The complete resection is one of the most crucial requirements to achieve favorable outcomes in oncologic surgery. The apex of the lung is surrounded complicatedly by the clavicle, the first rib, the subclavian artery and vein, and the brachial plexus. Therefore, the image information especially about the infiltration of adjacent anatomic structures, facilitates the surgery in the apical lung cancer. A 70-year-old man presented at our hospital with a computed tomography (CT) scan showing a tumor at the left lung apex that infiltrated the chest wall. Two anatomical anomalies were found, which were the first rib hypoplasia and the aberrant pulmonary artery branch. The three-dimensional (3D) CT enhanced with using bolus tracking method, simultaneously revealed that the subclavian vessels existed between the clavicle and the second rib, and the left lingual pulmonary artery and the ventrobasal pulmonary artery diverged from the left main pulmonary artery as the first branch. We diagnosed the tumor as a primary lung squamous cell carcinoma that infiltrated the second rib, because sputum cytology suggested squamous cell carcinoma. Left lung upper lobectomy with lymph node dissection and chest wall resection (the second and third ribs) were performed with caution for the anatomical anomalies. The pathological diagnosis was pleomorphic carcinoma (5.0 × 3.0 × 1.9 cm) that invaded the second costal bone, and the pathological stage was confirmed to be pT3N0M0. Pathologically curative resection was accomplished. The patient was discharged from the hospital on 10 days after surgery. The 3D-CT precisely detected the anomalous structure consisted with the clavicle, the second rib, the subclavian artery and vein, the aberrant pulmonary artery branch. In the present case with the apical lung cancer, the evaluation of the anatomical structure via 3D-CT facilitated to achieve a pathological complete resection.

  16. Unilateral pulmonary hypoplasia

    Directory of Open Access Journals (Sweden)

    Albay S

    2008-10-01

    Full Text Available Pulmonary hypoplasia represents a broad range of malformations characterized by incomplete development of lung tissue. The severity of the lesion depends on the appearance time of the malformation during the timeline of lung development, and the presence of further anatomic anomalies. In this report, we present a case of pulmonary hypoplasia in a 27-year old woman.

  17. Chronological hypoplasia: aesthetic management

    National Research Council Canada - National Science Library

    Cheranjeevi Jayam; Anila Bandlapalli; Nikunj Patel; Rama Shankar Kashinath Choudhary

    2014-01-01

    ... (multiple, symmetrical, chronological pattern). Chronological hypoplasias are seen at the time tooth erupts into the oral cavity leading to several problems like aesthetic problems, tooth sensitivity, caries and early pulpal involvement...

  18. Clinical characteristics of high grade foveal hypoplasia.

    Science.gov (United States)

    Park, Kyung-Ah; Oh, Sei Yeul

    2013-02-01

    To report clinical characteristics of high grade foveal hypoplasia. Patients with foveal hypoplasia of grade 3 or 4 on spectral domain optical coherence tomography according to a previously published scheme were enrolled. All patients underwent a full ophthalmologic assessment including visual acuity testing, slit lamp biomicroscopy, fundus examination, and evaluation of ocular alignment. The underlying causes of foveal hypoplasia were identified as albinism in five patients and aniridia in six patients. The mean logMAR visual acuity was 0.57 ± 0.24 (range 0.22-1.00) in the right eyes and 0.58 ± 0.21 (range 0.30-1.00) in the left eyes. On fundus examination in patients with albinism, two patients showed marked transparency, one patient showed moderate transparency, and two patients showed minimal transparency. Among six patients with aniridia, five patients showed normal macular pigmentation without macular reflex and one patient showed decreased macular pigmentation with no macular reflex. Patients with high grade macular hypoplasia tended to have poor visual acuities; however, the range of visual acuity was quite variable. Other factors associated with underlying disease could be the reason of this variability. Therefore, careful consideration should be given when assessing visual prognosis in foveal hypoplasia using optical coherence tomography.

  19. Enamel Hypoplasia of Deciduous Canine

    OpenAIRE

    加納, 隆; 平出, 百合子; 舟津, 聡; 峯村, 隆一; 恩田, 千爾; 正木, 岳馬

    1993-01-01

    From observation of frequency and measurement of the lengths and widths of enamel hypoplasia on the maxillary and mandibular deciduous canines, extracted from 50 Indians' skulls, the following results were obtained. 1) Enamel hypoplasia occurred in 15% of the maxillary deciduous canines and 44% of the mandibular deciduous canines. 2) Symmetrical cases of enamel hypoplasia occurred in 8.0% of the maxillary deciduous canins and in 34% of the mandibular deciduous canines. The enamel hypoplasia o...

  20. Isolated Left Pulmonary Artery Agenesis: A Case Report

    OpenAIRE

    Tansel Ansal Balcı; Zehra Pınar Koç; Gamze Kırkıl; Ahmet Kürşad Poyraz

    2012-01-01

    Unilateral pulmonary artery agenesis without any cardiovascular malformation is a rare anomaly. We present the imaging findings of a patient who was diagnosed as isolated left pulmonary artery agenesis. A 27-year-old female patient was admitted to our hospital due to dyspnea during exercise for five years. Chest X-ray revealed minimally small left pulmonary hilum and left lung. She was admitted to our clinic with the suspicion of pulmonary artery pathology. Absent perfusion of the left lung w...

  1. Isolated unilateral pulmonary artery hypoplasia with accompanying pulmonary parenchymal findings on CT: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Surin; Cha, Yoon Ki; Kim, Jeung Sook; Kwon, Jae Hyun; Jeong, Yun Jeong [Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang (Korea, Republic of); Kim, Seon Jeong [Dept. of Radiology, Myongji Hospital, Goyang (Korea, Republic of)

    2017-05-15

    Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis. On computed tomography (CT), the left pulmonary artery showed hypoplasia with multiple collateral vessels seen in the mediastinum and the left hemithorax. Also, parenchymal bands and peripheral linear opacities were seen in the affected lung, which were probably due to chronic infarction induced by unilateral pulmonary artery hypoplasia. There are only a few reports focusing on the radiologic findings in the pulmonary parenchyma induced by unilateral pulmonary artery hypoplasia, such as parenchymal bands and peripheral linear opacities. Therefore we report this case, which focused on the CT findings in the pulmonary parenchyma due to isolated unilateral pulmonary artery hypoplasia.

  2. Coincidence of congenital agenesis of left lung and common atrium: a very rare case.

    Science.gov (United States)

    Nabati, Maryam; Bagheri, Babak; Habibi, Valiolla

    2013-05-01

    Pulmonary agenesis is characterized by undeveloped pulmonary vessels, bronchi as well as lung parenchyma and is a rare congenital anomaly with unknown etiology. It is usually diagnosed during childhood. Nearly, one third of these patients have concomitant congenital heart diseases. While more than 50% of these patients die before the age of 5 years, some other patients may be asymptomatic throughout their life. On the other hand, common atrium, another rare congenital anomaly, is characterized by complete absence of the atrial septum and is usually accompanied by atrioventricular valve malformations. An 18-year-old male presented with concomitant pulmonary agenesis and common atrium and had not undergone surgery due to high risk for mortality.

  3. Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis.

    Science.gov (United States)

    Labovsky, Kristen; Hoffman, George; Scott, John

    2016-07-01

    We describe the rare case of an infant with congenital diaphragmatic hernia, unilateral lung agenesis, and unpalliated single-ventricle physiology. Infants with congenital diaphragmatic hernia and parallel circulation are at risk for maldistribution of systemic and pulmonary blood flow. Optimal perioperative management should include an assessment of the ratio of pulmonary to systemic blood flow (Qp:Qs). Traditionally, arterial and systemic venous oxygen (SvO2) saturations are needed to calculate Qp:Qs. However, in this case, SvO2 measurement was not feasible. On the basis of a previously described relationship, we used 2-site near-infrared spectroscopy to calculate a near-infrared spectroscopy-derived SvO2, which was then used to estimate Qp:Qs and guide goal-directed interventions.

  4. Prenatal prediction of pulmonary hypoplasia.

    Science.gov (United States)

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  5. Ultrasound diagnosis of pulmonary sling with proximal stenosis of left pulmonary artery and patent arterial duct

    Directory of Open Access Journals (Sweden)

    Wojciech Mądry

    2013-03-01

    Full Text Available Authors discuss methods of echocardiographic diagnosis of the pulmonary sling with stenosis and hypoplasia of the left pulmonary artery and patent arterial duct with massive left‑to‑right shunt, based on a case of the newborn with resistant to treatment heart failure, with initial diagnosis of patent ductus arteriosus, referred to surgical treatment. The optimal echocardiographic views permitting establish diagnosis of the pulmonary sling were suggested. The special attention was paid to high parasternal and suprasternal views visualizing vessels of the upper mediastinum as well as characteristic differences between the normal and pathologic picture. The typical features of the echocardiogram suggesting pulmonary sling, like the lack of the left pulmonary artery in its expected position, and the abnormal branching pattern of the right pulmonary artery were indicated. The greatest diagnostic difficulties in visualization of the abnormal route of the left pulmonary artery were related to the presence of air‑containing tissues, like lungs and central airways between the ultrasound probe and area of interest. The other was the masking influence of the large patent arterial duct, that may mimic the left pulmonary artery arising from the pulmonary trunk. The other entities requiring differentiation with sling, like aplasia of the left lung, the direct or indirect aortic origin of the left pulmonary artery, were discussed. The role of other visualization technics, like computed 3D tomography, and magnetic nuclear resonance, as well as direct visualization of central airways with bronchoscopy in establishing precise diagnosis were stressed.

  6. Genetics Home Reference: focal dermal hypoplasia

    Science.gov (United States)

    ... Home Health Conditions focal dermal hypoplasia focal dermal hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Focal dermal hypoplasia is a genetic disorder that primarily affects the ...

  7. Genetics Home Reference: lissencephaly with cerebellar hypoplasia

    Science.gov (United States)

    ... Conditions lissencephaly with cerebellar hypoplasia lissencephaly with cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain ...

  8. Genetics Home Reference: Leydig cell hypoplasia

    Science.gov (United States)

    ... Home Health Conditions Leydig cell hypoplasia Leydig cell hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Leydig cell hypoplasia is a condition that affects male sexual development. ...

  9. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    Science.gov (United States)

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  10. Unilateral segmental odontomaxillary hypoplasia: an unusual case report

    Energy Technology Data Exchange (ETDEWEB)

    Pandey, Sushma; Pai, Keerthilatha M; Nayak, Ajay G; Vineetha, Ravindranath [Manipal College of Dental Sciences, Manipal (India)

    2011-03-15

    Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.

  11. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

  12. 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.

  13. Optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    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.

  14. Anatomical vertebral artery hypoplasia and insufficiency impairs dynamic blood flow regulation.

    Science.gov (United States)

    Sato, Kohei; Yoneya, Marina; Otsuki, Aki; Sadamoto, Tomoko; Ogoh, Shigehiko

    2015-11-01

    Recent studies have suggested that vertebral artery (VA) hypoplasia is a predisposing factor for posterior cerebral stroke. We examined whether anatomical vertebrobasilar ischemia, i.e., unilateral VA hypoplasia and insufficiency, impairs dynamic blood flow regulation. Twenty-eight female subjects were divided into three groups by defined criteria: (i) unilateral VA hypoplasia (n = 8), (ii) VA insufficiency (n = 6), and (iii) control (n = 14). Hypoplastic VA criterion was VA blood flow of 40 ml min(-1) , whereas VA insufficiency criterion was net (left + right) VA blood flow of 100 ml min(-1) or less. We evaluated left, right, and net VA blood flows by ultrasonography during hypercapnia, normocapnia, and hypocapnia to evaluate VA CO2 reactivity. The unilateral VA hypoplasia group showed lower CO2 reactivity at hypoplastic VA than at non-hypoplastic VA (2.65 ± 0.58 versus 3.00 ± 0.48% per mmHg, P = 0.027) and net VA CO2 reactivity was preserved (Unilateral VA hypoplasia, 2.95 ± 0.48 versus Control, 2.93 ± 0.42% per mmHg, P = 0.992). However, the VA insufficiency group showed a lower net VA CO2 reactivity compared to the control (2.29 ± 0.55 versus 2.93 ± 0.42% per mmHg, P = 0.032) and the unilateral VA hypoplasia (P = 0.046). VA hypoplasia reduced CO2 reactivity, although non-hypoplastic VA may compensate this regulatory limitation. In subjects with VA insufficiency, lowered CO2 reactivity at the both VA could not preserve normal net VA CO2 reactivity. These findings provide a possible physiological mechanism for the increased risk of posterior cerebral stroke in subjects with VA hypoplasia and insufficiency.

  15. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

    Science.gov (United States)

    ... Conditions VLDLR-associated cerebellar hypoplasia VLDLR-associated cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description VLDLR -associated cerebellar hypoplasia is an inherited condition that affects the development ...

  16. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    Science.gov (United States)

    ... X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Enable Javascript to view the expand/collapse ... Open All Close All Description X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. ...

  17. Pontocerebellar hypoplasia type 2 : a neuropathological update

    NARCIS (Netherlands)

    Barth, Peter G.; Aronica, Eleonora; de Vries, Linda; Nikkels, Peter G. J.; Scheper, Wiep; Hoozemans, Jeroen J.; Poll-The, Bwe-Tien; Troost, Dirk

    2007-01-01

    Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was st

  18. Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report.

    Science.gov (United States)

    Nishi, Tomo; Yukawa, Eiichi; Taoka, Toshiaki; Ogata, Nahoko

    2013-01-01

    Optic nerve hypoplasia is diagnosed by the ophthalmoscopic appearance of the fundus of the eye and by standard magnetic resonance imaging of the brain. The ability to study eyes with optic nerve hypoplasia by magnetic resonance diffusion tensor imaging has improved the evaluation of the optic pathways. The authors report a case of unilateral optic nerve hypoplasia with hypoplasia of the contralateral optic pathway. The entire visual pathway of this patient was examined by magnetic resonance and magnetic resonance diffusion tensor imaging. The images show a decrease of the volume of the optic radiation contralateral to the optic nerve abnormality and also pre- and post-chiasmal abnormalities.

  19. Unilateral Pulmonary Hypoplasia in a Child.

    Science.gov (United States)

    Dewan, G

    2015-01-01

    Pulmonary hypoplasia is an uncommon congenital anomaly. A case reported in a six year old male child from Bangladesh who presented with chronic dry cough, episodic fever and occasional haemoptysis causing confusion with tuberculosis. X-ray suggested lung collapse. Final diagnosis reached by combined bronchoscopy, computed tomogram scan of chest and pulmonary angiogram. In a child with complete radiological lung collapse possibility of pulmonary hypoplasia should be kept in mind.

  20. Isolated Left Pulmonary Artery Agenesis: A Case Report

    Directory of Open Access Journals (Sweden)

    Tansel Ansal Balcı

    2012-08-01

    Full Text Available Unilateral pulmonary artery agenesis without any cardiovascular malformation is a rare anomaly. We present the imaging findings of a patient who was diagnosed as isolated left pulmonary artery agenesis. A 27-year-old female patient was admitted to our hospital due to dyspnea during exercise for five years. Chest X-ray revealed minimally small left pulmonary hilum and left lung. She was admitted to our clinic with the suspicion of pulmonary artery pathology. Absent perfusion of the left lung with normal ventilation was visualized on scintigraphy. MDCT angiography of pulmonary arteries showed absent left main pulmonary artery with systemic collaterals around left hemithorax. Pulmonary artery agenesis can be asymptomatic and isolated until adulthood. Both scintigraphy and CT angiography images of pulmonary artery agenesis of a patient are rare in the literature. Pulmonary ventilation- perfusion scintigraphy can be used not only for pulmonary embolism but also pathologies involving pulmonary artery and its branches. (MIRT 2012;21:80-83

  1. A rare cause of cervical spinal stenosis: posterior arch hypoplasia in a bipartite atlas

    Energy Technology Data Exchange (ETDEWEB)

    Atasoy, C. [Emek, Kirim Caddesi, Ankara (Turkey); Department of Radiology, Ankara University School of Medicine (Turkey); Fitoz, S.; Karan, B.; Erden, I.; Akyar, S. [Department of Radiology, Ankara University School of Medicine (Turkey)

    2002-03-01

    We describe CT and MRI of a previously unreported combination of atlantoaxial anomalies consisting of posterior arch hypoplasia in a bipartite atlas with an os odontoideum, in a 30-year-old woman presenting with neck and left arm pain. MRI showed the os odontoideum, marked stenosis of the spinal canal at the level of the atlas, with cord compression and evidence of myelopathy. CT revealed a bipartite atlas with midline clefts in anterior and posterior arches, thickening in the anterior arch and hypoplasia of the posterior arch with incurving of both hemiarches. Flexion and extension radiographs demonstrated atlantoaxial instability. (orig.)

  2. Heterochrony and Early Left-Right Asymmetry in the Development of the Cardiorespiratory System of Snakes

    Science.gov (United States)

    van Soldt, Benjamin J.; Metscher, Brian D.; Poelmann, Robert E.; Vervust, Bart; Vonk, Freek J.; Müller, Gerd B.; Richardson, Michael K.

    2015-01-01

    Snake lungs show a remarkable diversity of organ asymmetries. The right lung is always fully developed, while the left lung is either absent, vestigial, or well-developed (but smaller than the right). A ‘tracheal lung’ is present in some taxa. These asymmetries are reflected in the pulmonary arteries. Lung asymmetry is known to appear at early stages of development in Thamnophis radix and Natrix natrix. Unfortunately, there is no developmental data on snakes with a well-developed or absent left lung. We examine the adult and developmental morphology of the lung and pulmonary arteries in the snakes Python curtus breitensteini, Pantherophis guttata guttata, Elaphe obsoleta spiloides, Calloselasma rhodostoma and Causus rhombeatus using gross dissection, MicroCT scanning and 3D reconstruction. We find that the right and tracheal lung develop similarly in these species. By contrast, the left lung either: (1) fails to develop; (2) elongates more slowly and aborts early without (2a) or with (2b) subsequent development of faveoli; (3) or develops normally. A right pulmonary artery always develops, but the left develops only if the left lung develops. No pulmonary artery develops in relation to the tracheal lung. We conclude that heterochrony in lung bud development contributes to lung asymmetry in several snake taxa. Secondly, the development of the pulmonary arteries is asymmetric at early stages, possibly because the splanchnic plexus fails to develop when the left lung is reduced. Finally, some changes in the topography of the pulmonary arteries are consequent on ontogenetic displacement of the heart down the body. Our findings show that the left-right asymmetry in the cardiorespiratory system of snakes is expressed early in development and may become phenotypically expressed through heterochronic shifts in growth, and changes in axial relations of organs and vessels. We propose a step-wise model for reduction of the left lung during snake evolution. PMID:25555231

  3. Heterochrony and early left-right asymmetry in the development of the cardiorespiratory system of snakes.

    Directory of Open Access Journals (Sweden)

    Benjamin J van Soldt

    Full Text Available Snake lungs show a remarkable diversity of organ asymmetries. The right lung is always fully developed, while the left lung is either absent, vestigial, or well-developed (but smaller than the right. A 'tracheal lung' is present in some taxa. These asymmetries are reflected in the pulmonary arteries. Lung asymmetry is known to appear at early stages of development in Thamnophis radix and Natrix natrix. Unfortunately, there is no developmental data on snakes with a well-developed or absent left lung. We examine the adult and developmental morphology of the lung and pulmonary arteries in the snakes Python curtus breitensteini, Pantherophis guttata guttata, Elaphe obsoleta spiloides, Calloselasma rhodostoma and Causus rhombeatus using gross dissection, MicroCT scanning and 3D reconstruction. We find that the right and tracheal lung develop similarly in these species. By contrast, the left lung either: (1 fails to develop; (2 elongates more slowly and aborts early without (2a or with (2b subsequent development of faveoli; (3 or develops normally. A right pulmonary artery always develops, but the left develops only if the left lung develops. No pulmonary artery develops in relation to the tracheal lung. We conclude that heterochrony in lung bud development contributes to lung asymmetry in several snake taxa. Secondly, the development of the pulmonary arteries is asymmetric at early stages, possibly because the splanchnic plexus fails to develop when the left lung is reduced. Finally, some changes in the topography of the pulmonary arteries are consequent on ontogenetic displacement of the heart down the body. Our findings show that the left-right asymmetry in the cardiorespiratory system of snakes is expressed early in development and may become phenotypically expressed through heterochronic shifts in growth, and changes in axial relations of organs and vessels. We propose a step-wise model for reduction of the left lung during snake evolution.

  4. Heterochrony and early left-right asymmetry in the development of the cardiorespiratory system of snakes.

    Science.gov (United States)

    van Soldt, Benjamin J; Metscher, Brian D; Poelmann, Robert E; Vervust, Bart; Vonk, Freek J; Müller, Gerd B; Richardson, Michael K

    2015-01-01

    Snake lungs show a remarkable diversity of organ asymmetries. The right lung is always fully developed, while the left lung is either absent, vestigial, or well-developed (but smaller than the right). A 'tracheal lung' is present in some taxa. These asymmetries are reflected in the pulmonary arteries. Lung asymmetry is known to appear at early stages of development in Thamnophis radix and Natrix natrix. Unfortunately, there is no developmental data on snakes with a well-developed or absent left lung. We examine the adult and developmental morphology of the lung and pulmonary arteries in the snakes Python curtus breitensteini, Pantherophis guttata guttata, Elaphe obsoleta spiloides, Calloselasma rhodostoma and Causus rhombeatus using gross dissection, MicroCT scanning and 3D reconstruction. We find that the right and tracheal lung develop similarly in these species. By contrast, the left lung either: (1) fails to develop; (2) elongates more slowly and aborts early without (2a) or with (2b) subsequent development of faveoli; (3) or develops normally. A right pulmonary artery always develops, but the left develops only if the left lung develops. No pulmonary artery develops in relation to the tracheal lung. We conclude that heterochrony in lung bud development contributes to lung asymmetry in several snake taxa. Secondly, the development of the pulmonary arteries is asymmetric at early stages, possibly because the splanchnic plexus fails to develop when the left lung is reduced. Finally, some changes in the topography of the pulmonary arteries are consequent on ontogenetic displacement of the heart down the body. Our findings show that the left-right asymmetry in the cardiorespiratory system of snakes is expressed early in development and may become phenotypically expressed through heterochronic shifts in growth, and changes in axial relations of organs and vessels. We propose a step-wise model for reduction of the left lung during snake evolution.

  5. Successful resection of osteosarcoma pulmonary metastasis extending into left side of heart under cardiopulmonary bypass: a case report

    Institute of Scientific and Technical Information of China (English)

    柴(王莹); 沈钢

    2002-01-01

    @@ Cancerous thrombi of metastatic tumors rarely extend into the cardiac cavity, but such cases usually contraindicate surgery. Here, we report a patient in whom osteosarcoma pulmonary metastasis extended into the left side of the heart, which had metastasized to the left lung after surgery of the chondroblastoma of the left knee, was successfully excised in bloc under CPB.

  6. Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.

    Science.gov (United States)

    Shah, Krupa; Shah, Hitesh

    2016-08-16

    Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.

  7. Left Vocal Cord Paralysis Detected by PET/CT in a Case of Lung Cancer

    Directory of Open Access Journals (Sweden)

    Ali Ozan Oner

    2015-01-01

    Full Text Available We report a patient with lung cancer. The first PET/CT imaging revealed hypermetabolic mass in the left aortopulmonary region and hypermetabolic nodule in the anterior segment of the upper lobe of the left lung. After completing chemotherapy and radiotherapy against the primary mass in the left lung, the patient underwent a second PET/CT examination for evaluation of treatment response. This test demonstrated, compared with the first PET/CT, an increase in the size and metabolic activity of the primary mass in the left lung in addition to multiple, pathologic-sized, hypermetabolic metastatic lymph nodes as well as multiple metastatic sclerotic areas in bones. These findings were interpreted as progressive disease. In addition, an asymmetrical FDG uptake was noticed at the level of right vocal cord. During follow-up, a laryngoscopy was performed, which demonstrated left vocal cord paralysis with no apparent mass. Thus, we attributed the paralytic appearance of the left vocal cord to infiltration of the left recurrent laryngeal nerve by the primary mass located in the apical region of the left lung. In conclusion, the knowledge of this pitfall is important to avoid false-positive PET results.

  8. Tubular hypoplasia of the aorta and right atrioventricular valve dysplasia in a Bulldog.

    Science.gov (United States)

    Robinson, Nicholas A; Armíen, Aníbal G

    2010-07-01

    A Bulldog puppy that died at 1 day of age was presented for postmortem evaluation. Macroscopically, there was marked hypoplasia of the ascending, transverse, and proximal segments of the descending thoracic aorta and almost complete secondary thrombosis of the left ventricle causing a functional stenosis of the left atrioventricular valve. Separately, there was right atrioventricular valve dysplasia with secondary dilation of the right atrium. Microscopically, the left ventricular outflow tract was occluded by chondroid metaplasia, fibrosing recanalization of a left-ventricular thrombus, and isolated Purkinje fiber degeneration and necrosis.

  9. Neuropathologic features of pontocerebellar hypoplasia type 6.

    Science.gov (United States)

    Joseph, Jeffrey T; Innes, A Micheil; Smith, Amanda C; Vanstone, Megan R; Schwartzentruber, Jeremy A; Bulman, Dennis E; Majewski, Jacek; Daza, Ray A; Hevner, Robert F; Michaud, Jean; Boycott, Kym M

    2014-11-01

    Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and cerebellum. The rarity and genetic heterogeneity of this group of disorders can make molecular diagnosis challenging. We report 3 siblings who were born to nonconsanguineous parents, were hypotonic at birth, developed seizures, had repeated apneic spells, and died within 2 months of life. Neuroimaging showed that all had profound cerebellar hypoplasia and simplified cortical gyration. Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6. Autopsies on the younger twin siblings revealed small and immature cerebella at an approximate developmental age of less than 18 weeks. The basis pontis showed regressive changes, and the medulla had marked inferior olivary hypoplasia. The brains of both twins were microencephalic and had simplified gyri; cortices were immature, and deep white matter had extensive astrocytosis. The findings suggest a near-normal embryologic period followed by midgestation developmental slowing or cessation and later regression in select anatomic regions. This is the first detailed description of neuropathologic findings associated with pontocerebellar hypoplasia type 6 and demonstrates the profound effects of RARS2 disruption during early neurodevelopment.

  10. 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.

  11. 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

  12. 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

  13. Focal dermal hypoplasia: A rare case report

    Directory of Open Access Journals (Sweden)

    Sahana M Srinivas

    2015-01-01

    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.

  14. Tooth enamel hypoplasia in PHACE syndrome.

    Science.gov (United States)

    Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

    2014-01-01

    Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age.

  15. 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.)

  16. 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.

  17. On the classification of congenital thumb hypoplasia.

    Science.gov (United States)

    Tonkin, M A

    2014-11-01

    In 1937, Müller introduced the concept of a teratological sequence of thumb hypoplasia with increasing severity from mild deficiency, through severe deficiency, to thumb absence. Blauth subsequently detailed five specific grades. In 1992, Manske and McCarroll altered Blauth's classification such that Grade 3 was sub-divided into Grades 3A and 3B, according to a presence or absence of the proximal metacarpal. Buck-Gramcko added a Grade 3C in which there was only a remnant metacarpal head. This article investigates their publications and those of others to identify 'who said what' and clarify the definitions of grades of thumb hypoplasia. A modification of Blauth's classification is proposed, which retains the integrity of the concept of Müller and the skeletal and soft tissue grading of Blauth, but which also incorporates the disparate anomalies that may present in Grades 2 and 3 hypoplastic thumbs.

  18. Extended thymectomy, left pneumonectomy, pericardiectomy and partial pleurectomy for a large thymoma, using only a median sternotomy

    Directory of Open Access Journals (Sweden)

    Jorge Cruz

    2017-01-01

    Full Text Available We present a case of a large thymoma with invasion to the hilum of the lung and pleural dissemination. A 58-year-old woman was diagnosed with a type B2 thymoma, with suspected pericardium, pulmonary artery and left lung invasion and pleural metastasis (Masaoka-Koga stage IVb. A radical resection was planned after systemic chemotherapy. Through a median sternotomy, we resected the tumour, and after confirmation of pericardium and left lung invasion, we also performed resection of the pericardium, of the lung and of the pleural metastasis. The median sternotomy allowed a safe dissection of pulmonary vessels and main bronchus.

  19. [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.

  20. 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.

  1. Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult

    Science.gov (United States)

    Tansir, Ghazal; Sasmal, Gargi; Dixit, Juhi; Sahoo, Ratnakar

    2016-01-01

    Pulmonary agenesis is a rare congenital anomaly characterized by the absence of pulmonary parenchyma and vasculature. Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral agenesis is often associated with other congenital cardiovascular, genitourinary and gastrointestinal malformations. Right lung agenesis is more frequently associated with congenital anomalies and has poor prognosis as compared to left lung agenesis. Diagnosis is often made in childhood but can be delayed, if the clinician is not aware about this entity. Chest radiograph in unilateral lung agenesis shows opaque hemithorax and these patients are often confused with other common causes of opaque hemithorax like collapse, pleural effusion and diaphragmatic hernia. We report a case of left lung agenesis with right lung bronchiectasis in a middle-aged adult who was treated for tuberculous pleural effusion and was referred to our institute for persistent symptoms despite treatment. PMID:27790501

  2. Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult.

    Science.gov (United States)

    Kumar, Prabhat; Tansir, Ghazal; Sasmal, Gargi; Dixit, Juhi; Sahoo, Ratnakar

    2016-09-01

    Pulmonary agenesis is a rare congenital anomaly characterized by the absence of pulmonary parenchyma and vasculature. Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral agenesis is often associated with other congenital cardiovascular, genitourinary and gastrointestinal malformations. Right lung agenesis is more frequently associated with congenital anomalies and has poor prognosis as compared to left lung agenesis. Diagnosis is often made in childhood but can be delayed, if the clinician is not aware about this entity. Chest radiograph in unilateral lung agenesis shows opaque hemithorax and these patients are often confused with other common causes of opaque hemithorax like collapse, pleural effusion and diaphragmatic hernia. We report a case of left lung agenesis with right lung bronchiectasis in a middle-aged adult who was treated for tuberculous pleural effusion and was referred to our institute for persistent symptoms despite treatment.

  3. Unilateral hypoplasia with contralateral hypertrophy of anterior belly of digastric muscle: a case report.

    Science.gov (United States)

    Ochoa-Escudero, Martin; Juliano, Amy F

    2016-10-01

    Anomalies of the anterior belly of the digastric muscle (DM) are uncommon. We present a case of hypoplasia of the anterior belly of the left DM with hypertrophy of the anterior belly of the contralateral DM. The importance of recognizing this finding is to differentiate hypoplasia of the anterior belly of the DM from denervation atrophy, and not to confuse contralateral hypertrophy with a submental mass or lymphadenopathy. In denervation atrophy of the anterior belly of the DM, associated atrophy of the ipsilateral mylohyoid muscle is present. Hypertrophy of the anterior belly of the contralateral DM can be differentiated from a submental mass or lymphadenopathy by recognizing its isodensity on computed tomography and isointensity on magnetic resonance imaging to other muscles, without abnormal contrast enhancement.

  4. Breast hypoplasia and breastfeeding: a case history.

    Science.gov (United States)

    Thorley, Virginia

    2005-07-01

    Hypoplasia, or glandular insufficiency, of the breasts is an infrequent cause of breastfeeding failure or infant failure to thrive. Early evaluation of the breasts of early identification of infant indicators can enable mothers to breastfeed while providing appropriate supplementation to facilitate satisfactory hydration and growth. A case report is presented of a highly motivated mother with minimal breast tissue who was able to soothe four of her infants at her breasts, supplying some breastmilk, while providing the bulk of their nutritional requirements by other means. At the time of writing she is tandem breastfeeding as well as providing artificial milk by bottle.

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

    Directory of Open Access Journals (Sweden)

    Shraddha Verma

    2013-03-01

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  7. Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia

    Directory of Open Access Journals (Sweden)

    Swakshyar Saumya Pal

    2011-01-01

    Full Text Available A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT, microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia.

  8. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

    NARCIS (Netherlands)

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

    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

  9. Spectrum of PORCN mutations in Focal Dermal Hypoplasia

    Science.gov (United States)

    Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

  10. Prevalence and possible etiology of dental enamel hypoplasia.

    Science.gov (United States)

    El-Najjar, M Y; DeSanti, M V; Ozebek, L

    1978-02-01

    Two hundred black and white adult human skeletons and 200 living black and white children from the greater Cleveland area were examined for evidence of enamel hypoplasia. Enamel hypoplasia, present in varying expressings (pits, lines and grooves), was found to be more prevalent in both skeletal samples, than in the living groups. In the majority of cases, sex differences between white and black males and females through time and space are highly significant for all tooth catagories. Regardless of the mechanisms behind it, prevalence of enamel hypoplasia for both white and black group has significantly declined through time. No evidence suggesting specific etiologies responsible for enamel hypoplasia can be found. In the majority of previously published reports, the etiology is still idiopathic. The reduction in the prevalence of enamel hypoplasia in the groups examined through time may be related to improved nutritional conditions and the elimination or decline of childhood diseases that have been implicated in this condition.

  11. 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

  12. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

    Science.gov (United States)

    Aykut, A; Cogulu, O; Ekmekci, A Y; Ozkinay, F

    2008-01-01

    Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Brain stem hypoplasia associated with Cri-du-Chat syndrome.

    Science.gov (United States)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  15. Brain stem hypoplasia associated with Cri-du-Chat syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu [Dept. of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon (Korea, Republic of)

    2013-12-15

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  16. Lung mass appearing as a dilated left ventricle on Tc-99m tetrofosmin myocardial perfusion scintigraphy.

    Science.gov (United States)

    Gnanasegaran, Gopinath; Williams, Robert; Mclean, Emma; O' Connell, Rachel; Nunan, Thomas O; O'Doherty, Michael J

    2009-09-01

    Tc-99m tetrofosmin is a common tracer used in myocardial perfusion scintigraphy. Several benign and malignant tumors also take up tetrofosmin. We present a case of a 60-year-old woman with a history of a left lung mass awaiting resection. The patient was referred for a myocardial perfusion scan for preoperative risk assessment. The myocardial perfusion scan revealed a large cavitated lesion mimicking a dilated left ventricle and the CT scan revealed a large mass in the left lung with central necrosis displacing the heart and mediastinum. The patient underwent thoracotomy with resection of the mass and the histology confirmed atypical carcinoid. This case highlights noncardiac uptake of Tc-99m tetrofosmin in an atypical carcinoid.

  17. Pulmonary hypoplasia presenting with recurrent wheezing in an infant.

    Science.gov (United States)

    Çeliksoy, Mehmet Halil; Tander, Burak; Aşılıoğlu, Nazik; Barış, Yakup Sancar; Yıldıran, Alişan

    2015-10-01

    Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented.

  18. [Left pulmonary agenesis diagnosed late].

    Science.gov (United States)

    Deleanu, Oana; Pătraşcu, Natalia; Nebunoiu, Ana-Maria; Vintilă, V; Ulmeanu, Ruxandra; Mihălţan, F D

    2010-01-01

    We present the case of a 51 years old female-patient, with severe dextroscoliosis, having like unique symptom progressive dyspnea. The blood samples reveals polycythemia, the radiological exam shows the opacification of 2/3 of the left thorax, the absence of the lung structure in the other 1/3, the deviation of the mediastinum, and dextroscoliosis; the computed tomography reveals the absence of the left lung artery and the left airways, compensatory hyperinflation of the right lung and dilatation of the trunk and right pulmonary artery; the bronchoscopy does not visualize the carina or the left main bronchus, typical for pulmonary agenesis. Echocardiography confirmed the absence of left pulmonary artery and shows mild pulmonary hypertension (systolic pressure in the pulmonary artery of 33 mmHg) with dilatation of the right cavities, but good cinetics. We face a case of pulmonary agenesis lately diagnosed, with modest functional cardiologic implications, limited therapeutic options and good survival, justified by the late appearance of the pulmonary hypertension of low severity and without worsening in time.

  19. 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.

  20. Focal dermal hypoplasia: Unusual presentation in Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Awadh Alamri

    2016-01-01

    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.

  1. [Phenotype analysis and the molecular mechanism of enamel hypoplasia].

    Science.gov (United States)

    Lv, Ping; Gao, Xue-jun

    2009-02-18

    Enamel hypoplasia is a surface defect of the tooth crown caused by a disturbance of enamel matrix secretion. Enamel hypoplasia may be inherited, or result from illness, malnutrition, trauma, or high concentrations of fluorides or strontium in the drinking water or food. Different types of enamel hypoplasia have been distinguished, such as pit-type, plane-type, and linear enamel hypoplasia. Hypoplasia has been related to the intensity and duration of stress events, the number of affected ameloblasts, and their position along the forming tooth crown. Amelogenesis imperfecta (AI) is a heterogeneous group of inherited defects in dental enamel formation, most teeth are affected in both the primary and permanent dentition. The malformed enamel can be unusually thin, soft, rough and stained. The strict definition of AI includes only those cases where enamel defects occur in the absence of other symptoms. Currently, there are seven candidate genes for AI: amelogenin, enamelin, ameloblastin, tuftelin, distal-less homeobox 3, enamelysin, and kallikrein 4. Since the enamel is formed according to a strict chronological sequence, and once formed, undergoes no repair or regeneration. Then the analysis the phenotype of enamel hypoplasia can provide insights of the severity of inherited or environmental stress and the molecular mechanism during the period of enamel formation.

  2. Mammary hypoplasia: not every breast can produce sufficient milk.

    Science.gov (United States)

    Arbour, Megan W; Kessler, Julia Lange

    2013-01-01

    Breast milk is considered the optimal form of nutrition for newborn infants. Current recommendations are to breastfeed for 6 months. Not all women are able to breastfeed. Mammary hypoplasia is a primary cause of failed lactogenesis II, whereby the mother is unable to produce an adequate milk volume. Women with mammary hypoplasia often have normal hormone levels and innervation but lack sufficient glandular tissue to produce an adequate milk supply to sustain their infant. The etiology of this rare condition is unclear, although there are theories that refer to genetic predisposition and estrogenic environmental exposures in select agricultural environments. Women with mammary hypoplasia may not exhibit the typical breast changes associated with pregnancy and may fail to lactate postpartum. Breasts of women with mammary hypoplasia may be widely spaced (1.5 inches or greater), asymmetric, or tuberous in nature. Awareness of the history and clinical signs of mammary hypoplasia during the prenatal period and immediate postpartum increases the likelihood that women will receive the needed education and physical and emotional support and encouragement. Several medications and herbs demonstrate some efficacy in increasing breast milk production in women with mammary hypoplasia.

  3. 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.

  4. Increased enamel hypoplasia and very low birthweight infants.

    Science.gov (United States)

    Nelson, S; Albert, J M; Geng, C; Curtan, S; Lang, K; Miadich, S; Heima, M; Malik, A; Ferretti, G; Eggertsson, H; Slayton, R L; Milgrom, P

    2013-09-01

    Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia.

  5. 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.

  6. 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.

  7. Radiation Induced Hypoplasia of the Mandible and Retarded Tooth Development

    Directory of Open Access Journals (Sweden)

    Monica Tuteja

    2010-01-01

    Full Text Available Few cases of radiation-induced damage to the teeth and jaws, have been reported in the literature. Radiation therapy plays an important role in the treatment of patients affected with head and neck cancer. In spite of its recognized benefits in the treatment of malignant tumors, radiation therapy has several side-effects in the head and neck region. This paper highlights a case report where hypoplasia of the mandible, trismus and stunted permanent teeth roots were observed in an 18-year-old patient who was diagnosed with parameningeal rhabdomyosarcoma—embryonal type group III at the age of 5 years. He had received radiation therapy of 50 Gy to the nasopharynx for about 1 year and was reviewed for a period of 11 years. Full mouth periapical radiographs and panoramic radiograph revealed hypoplasia of the mandible and generalized hypoplasia of the roots of the permanent teeth.

  8. 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.)

  9. Association of pulmonary artery agenesis and hypoplasia of the lung.

    Science.gov (United States)

    Vitiello, Renato; Pisanti, Chiara; Pisanti, Antonello; Silberbach, Michael

    2006-09-01

    Pulmonary artery agenesis and hypoplasia of the homolateral lung occasionally occurs as an isolated lesion, but more often has associated congenital cardiac anomalies. We present a case where pulmonary artery agenesis was the sole lesion in an asymptomatic child. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. Echocardiography is the best tool to establish the diagnosis. In our opinion, invasive procedures, such as cardiac catheterization, may be postponed if there is no echocardiographic evidence of pulmonary hypertension.

  10. Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity

    Directory of Open Access Journals (Sweden)

    Abhishek Jha

    2015-01-01

    Full Text Available The term "vertebrobasilar dolichoectasia" refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia.

  11. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

    Science.gov (United States)

    Abumansour, Iman S; Wrogemann, Jens; Chudley, Albert E; Chodirker, Bernard N; Salman, Michael S

    2014-06-01

    Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

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

    Science.gov (United States)

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  13. Hypoplasia of the internal carotid artery with intercavernous anastomosis

    Energy Technology Data Exchange (ETDEWEB)

    Chen, C.J.; Wang, L.J.; Wong, Y.C. [Department of Diagnostic Radiology, Chang Gung Memorial Hospital and Medical College, 199 Tung Hwa North Road, Taipei (Taiwan, Province of China); Chen, S.T.; Hsieh, F.Y. [Department of Neurology, Chang Gung Memorial Hospital and Medical College, Taipei (Taiwan, Province of China)

    1998-04-01

    We report a symptomatic case of unilateral hypoplasia of the internal carotid artery with an intercavernous anastomosis, a very rare developmental anomaly. The symptoms were caused by occlusion of the proximal middle cerebral artery which possibly related to the haemodynamic stress caused by the anomalous intercavernous anastomosis. (orig.) With 2 figs., 20 refs.

  14. Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain

    Energy Technology Data Exchange (ETDEWEB)

    Son, YeNa; Jin, Wook; Park, So Young [Kyung Hee University Hospital at Gangdong, Department of Radiology, 892, Dongnam-ro, Gangdong-gu, Seoul (Korea, Republic of); Ryu, Kyung Nam; Park, Ji Seon [Kyung Hee University Hospital, Department of Radiology, 23 Kyunghee-daero, Dongdaemun-gu, Seoul (Korea, Republic of)

    2017-03-15

    We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis. (orig.)

  15. Association between enamel hypoplasia and dental caries in primary second molars: a cohort study.

    Science.gov (United States)

    Hong, L; Levy, S M; Warren, J J; Broffitt, B

    2009-01-01

    The purpose of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars. The study sample was 491 subjects who received dental examinations at both age 5 and 9 by the calibrated examiners. Four primary second molars (n = 1,892) were scored for the presence of enamel hypoplasia for each participant. Caries presence and number of decayed and filled surfaces (dfs) were determined at age 5 and 9. The relationships between enamel hypoplasia and caries experience were assessed. Among primary second molars, 3.9% of children and 1.7% of primary second molars had enamel hypoplasia. At age 5, 36.8% of children with hypoplasia had caries, while 16.9% of children without enamel hypoplasia had caries. At age 9, the corresponding numbers were 52.6% for children with hypoplasia and 34.5% for children without hypoplasia, respectively. At the tooth level, for age 5, 28.1% of teeth with hypoplasia had caries (mean dfs = 0.40), and 7.6% of teeth without hypoplasia had caries (mean dfs = 0.11). At age 9, the corresponding numbers were 41.9% (mean dfs = 0.76) for teeth with hypoplasia and 18.3% (mean dfs = 0.34) for teeth without hypoplasia. In multivariable logistic regression analyses, teeth of subjects with enamel hypoplasia had a significantly higher risk for caries at age 5 and 9 after controlling for other risk factors. Enamel hypoplasia appears to be a significant risk factor for caries and should be considered in caries risk assessment.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. Alar Pinning in Rigid External Distraction for Midfacial Hypoplasia.

    Science.gov (United States)

    Yu, Jenny L; Woo, Albert S

    2017-09-01

    Distraction osteogenesis with a rigid external distractor is a widely accepted treatment for midfacial hypoplasia. In this study, the authors introduce the utilization of alar pinning with the external halo distractor for maxillary advancement, in place of an oral splint. A retrospective chart review was conducted of 7 patients who successfully underwent distraction osteogenesis using the alar pinning technique. Midfacial hypoplasia was secondary to Crouzon syndrome (n = 4), Apert syndrome (n = 1), Pfeiffer syndrome (n = 1), or bacterial meningitis (n = 1). Three patients were managed with monobloc osteotomies, 2 with Le Fort III osteotomies, 1 with Le Fort III osteotomy and frontoorbital advancement, and 1 with Le Fort I osteotomy alone. Patient charts were analyzed for postoperative course and complications relating to the alar pins. Two patients had minor complications specifically related to the alar pins. One patient had concern for a mild skin infection at a pin site that resolved with oral antibiotics. The other patient had loosening of an alar pin, which did not require operative management. Retrospective chart review indicated that all patients were pleased with their results from the distraction, and no patients opted for further advancement. Utilization of alar pin sites for external distraction is a feasible and reasonable option for treatment of midfacial hypoplasia involving a Le Fort osteotomy or monobloc procedure. Fixation sites within the alar crease minimize the visibility of pin site scars and eliminate the need for a custom-made oral splint, which prevents usage of the upper dentition and frequently requires consulting a dentist or orthodontist for fabrication. Alar pinning with an external halo distraction system for management of midfacial hypoplasia has minimal complications and is an alternative to using a custom-made oral splint.

  1. Hypoplasia of the parotid gland: computed tomography sialography diagnosis.

    Science.gov (United States)

    Sun, Lisha; Sun, Zhipeng; Ma, Xuchen

    2013-10-01

    We report two unusual cases of non-syndromic hypoplasia of the parotid gland. The hypoplastic parotid gland mimicked a preauricular parotid tumor in one case and presented as an incidental image finding in the other case. Absence of the deep lobe and isthmus of the parotid parenchyma could be determined on axial computed tomography (CT) by revealing fat tissue composition of the parotid space. The underdeveloped superficial lobe of the gland was observed on three-dimensional CT sialography.

  2. Ischio-pubic-patellar hypoplasia: is it a new syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Habboub, H.K. [Department of Radiology - 3953 JPP, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242 (United States); Thneibat, W.A. [Department of Radiology - 3953 JPP, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242 (United States)

    1997-05-01

    Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome. (orig.). With 1 fig.

  3. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

    OpenAIRE

    Pérez Pérez, Valentín; Suárez-Vega, Aroa; Fuertes, M.; Benavides, Julio; Delgado, L.; Ferreras, Mª del Carmen; Arranz, Juan José

    2013-01-01

    Abstract Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of t...

  4. 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...

  5. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

    Directory of Open Access Journals (Sweden)

    Poll-The Bwee

    2011-07-01

    Full Text Available Abstract 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/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and seizures are often reported. Treatment is only symptomatic and prognosis is poor, as most patients die during infancy or childhood. The genetic basis of different subtypes has been elucidated, which makes prenatal testing possible in families with mutations. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. The tRNA splicing endonuclease, the mitochondrial arginyl- tRNA synthetase and the vaccinia related kinase1 are mutated in the minority of PCH1 cases. These genes are involved in essential processes in protein synthesis in general and tRNA processing in particular. In this review we describe the neuroradiological, neuropathological, clinical and genetic features of the different PCH subtypes and we report on in vitro and in vivo studies on the tRNA splicing endonuclease and mitochondrial arginyl-tRNA synthetase and discuss their relation to pontocerebellar hypoplasia.

  6. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

    Science.gov (United States)

    Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; Aziz, Moutaz; Pirot, Nathalie; Brasseur-Daudruy, Marie; Layet, Valérie; Frébourg, Thierry; Laquerrière, Annie

    2013-07-01

    Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.

  7. Abolished ventilation and perfusion of lung caused by blood clot in the left main bronchus

    DEFF Research Database (Denmark)

    Afzelius, P; Bergmann, A; Henriksen, J H

    2015-01-01

    /Q) scintigraphy with single-photon emission CT (SPECT)/CT. V/Q SPECT/CT demonstrated abolished ventilation due to obstruction of the left main bronchus and markedly reduced perfusion of the entire left lung, a condition that was completely reversed after removal of a blood clot. We present the first pictorially......It is generally assumed that the lungs possess arterial autoregulation associated with bronchial obstruction. A patient with pneumonia and congestive heart failure unexpectedly developed frequent haemoptysis. High-resolution CT and diagnostic CT were performed as well as ventilation/perfusion (V...

  8. [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.

  9. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

    OpenAIRE

    Kobra Shiasi Arani

    2015-01-01

    Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short...

  10. Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.

    Science.gov (United States)

    Fink, Cassandra; Borchert, Mark; Simon, Carrie Zaslow; Saper, Clifford

    2015-02-01

    This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.

  11. 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.

  12. 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

  13. 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.

  14. Radiologic findings of the flexor pollicis longus hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Alicioglu, Banu [Trakya University Medical School, Department of Radiologyy, Edirne (Turkey)

    2007-06-15

    A case of a 10-year-old boy with hypoplasia of the flexor pollicis longus and without other associated anomalies and trauma history is reported. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered to the conditions of a patient who was unable to flex the interphalangeal joint of the thumb. Hypoplastic thumb or absent interphalangeal joint crease may be a diagnostic feature in such cases. We preoperatively present the radiological findings of this rare congenital anomaly. Ultrasound and magnetic resonance imaging (MRI) features have never been reported in the literature. (orig.)

  15. Oral phenotype and variation in focal dermal hypoplasia.

    Science.gov (United States)

    Wright, John Timothy; Puranik, Chaitanya P; Farrington, Frank

    2016-03-01

    Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

  16. Bilateral implantation in children with cochleovestibular nerve hypoplasia.

    Science.gov (United States)

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N

    2009-10-01

    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.

  17. Persistence of left supracardinal vein in an adult patient with heart-hand syndrome and cardiac pacemaker.

    Science.gov (United States)

    Nemec, Jan; Heifetz, Steven

    2008-01-01

    A patient with a sporadic heart-hand syndrome, which includes thumb hypoplasia, septum primum atrial septal defect, and cleft mitral valve is described. During attempted placement of a pacemaker lead, persistence of left superior and inferior vena cava was found in addition to the right-sided caval veins. This corresponds to persistence of left-sided supracardinal vein present during fetal development.

  18. The role of the uncinate process in sinusitis aetiology: isolated agenesis versus maxillary sinus hypoplasia.

    Science.gov (United States)

    Uluyol, S; Arslan, İ B; Demir, A; Mercan, G C; Dogan, O; Çukurova, İ

    2015-05-01

    This study aimed to evaluate the clinical significance of maxillary sinus hypoplasia and isolated agenesis of the uncinate process in sinusitis aetiology. Three patients with isolated agenesis of the uncinate process and 27 patients with 43 maxillary sinus hypoplasia variations were recruited. The frequencies of sinusitis episodes and radiological findings were compared between patient subgroups. In all, 23 type I maxillary sinus hypoplasia, 13 type II maxillary sinus hypoplasia and 7 type III maxillary sinus hypoplasia variations were detected. Patients with isolated agenesis of the uncinate process underwent antibiotic treatment an average of 7 times per year, whereas those with types I, II and III maxillary sinus hypoplasia were treated 1.57, 3.22, and 5.75 times per year, respectively, over a 5-year period. The antibiotic treatment frequency for patients with isolated agenesis of the uncinate process was significantly higher than for those with types I and II maxillary sinus hypoplasia. Isolated agenesis of the uncinate process seems to play a stronger role than types I and II maxillary sinus hypoplasia in the pathophysiology of chronic sinusitis.

  19. Indirect veneer treatment of anterior maxillary teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Devi Eka Juniarti

    2010-09-01

    Full Text Available Background: Nowadays, aesthetic rehabilitation becomes a necessity. It is affected by patient’s background, especially career, social and economic status. The aesthetic abnormality of anterior teeth i.e discoloration, malposition and malformation can affect patient’s appearance, especially during smile. These dental abnormalities, as a result, can decrease patient’s performance. Dental malformation, for instance, can be caused by developmental tooth defect, such as enamel hypoplasia. Enamel hypoplasia is a developmental defect caused by the lack of matrix amount which leads to thin and porous enamel. Enamel hypoplasia can also be caused by matrix calcification disturbance starting from the formation and development of enamel matrix causing defect and permanent changes which can occur on one or more tooth. Purpose: The aim of the study is to improve dental discoloration and tooth surface texture on anterior maxillary teeth with enamel hypoplasia by using indirect veneer with porcelain material. Case: A 20 years-old woman with enamel hypoplasia came to the Dental Hospital, Faculty of Dentistry Airlangga University. The patient wanted to improve her anterior maxillary teeth. It is clinically known that there were some opaque white spots (chalky spotted and porous on anterior teeth’s surface. Case management: Indirect veneer with porcelain material had been chosen as a restoration treatment which has excellent aesthetics and strength, and did not cause gingival irritation. As a result, the treatment could improve the confidence of the patient, and could also make their function normal. Conclusion: Indirect veneer is an effective treatment, which can improve patient’s appearance and self confidence.Latar belakang: Saat ini perbaikan estetik menjadi suatu kebutuhan. Kebutuhan akan estetik dipengaruhi latar belakang penderita, terutama karir, status sosial dan ekonomi. Hal ini disebabkan, kelainan estetik seperti diskolorasi, malposisi

  20. Anomalous pulmonary venous return: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Gyeong Min; Kang, MinJin; Lee, Han Bee; Bae, Kyung Eun; Lee, Jaehe; Kim, Jae Hyung; Jeong, Myeong Ja; Kang, Tae Kyung [Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of)

    2013-10-15

    Partial anomalous pulmonary venous return is a type of congenital pulmonary venous anomaly. We present a rare type of partial pulmonary venous return, subaortic vertical vein drains left lung to superior vena cava, accompanying hypoplasia of the ipsilateral lung and pulmonary artery. We also review the previous report and relationship of these structures.

  1. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism.

    Science.gov (United States)

    Wax, J R; Prabhakar, G; Giraldez, R A; Hutchins, G M; Stetten, G; Blakemore, K J

    1994-05-01

    The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.

  2. Bone marrow hypoplasia associated with fenbendazole administration in a dog.

    Science.gov (United States)

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A

    2004-01-01

    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal.

  3. Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia.

    Science.gov (United States)

    Habas, Christophe; Manto, Mario

    2014-01-01

    We report the case of a 25 year-old patient who underwent morphological and functional brain magnetic resonance imaging (fMRI) to investigate a left neocerebellar hypoplasia discovered incidentally. We compared brain activation during overt and covert finger movements, and haptic discrimination. The contralateral cerebellar hemisphere compensated for mental imagery of hand movements and haptic discrimination, but not for motor execution. Moreover, the resting-state functional connectivity did not show compensatory functional coherence between the right cerebellum and cerebral areas connected with the hypoplastic cerebellum. Our case illustrates for the first time that cerebellar compensatory recruitment is an active, specific process related to task complexity and under the control of executive networks.

  4. Characterising adequacy or inadequacy of the borderline left ventricle: what tools can we use?

    Science.gov (United States)

    Kaplinski, Michelle; Cohen, Meryl S

    2015-12-01

    Borderline left ventricle refers to a spectrum of left ventricular underdevelopment, typically associated with other cardiac anomalies. The left ventricle may be mildly hypoplastic, as is sometimes seen accompanying aortic coarctation, or it can be severely hypoplastic, as is seen in hypoplastic left heart syndrome. For patients with a borderline left ventricle that is at either extreme, the treatment decision is relatively straightforward. Those with the most severe form of left ventricle hypoplasia will require single ventricle palliation or cardiac transplantation, whereas those with the mildest form may not need any intervention. It is the management strategy of children that fall within the grey zone of the spectrum, which continues to be controversial and remains variable within and among different institutions. Cardiac diseases with associated left ventricle hypoplasia include critical aortic stenosis, mitral stenosis, coarctation of the aorta, arch hypoplasia, cor triatriatum, unbalanced common atrioventricular canal, Shone's complex, total anomalous pulmonary venous return, and complex conotruncal abnormalities. In this review, we will discuss the assessment and management of infants with borderline left ventricle with critical aortic stenosis or arch obstruction and associated mitral anomalies.

  5. Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

    Science.gov (United States)

    Garcia, M Lourdes; Ty, Edna B; Taban, Mehryar; David Rothner, A; Rogers, Douglas; Traboulsi, Elias I

    2006-11-01

    To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies were obtained in 65 cases. Visual acuity and associated ocular, neurologic, endocrine, systemic, and structural brain abnormalities were recorded. Seventy-five percent had bilateral optic nerve hypoplasia. Conditions previously associated with optic nerve hypoplasia and present in our patients include premature birth in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6%, and endocrine abnormalities in 6%. Developmental delay was present in 32%, cerebral palsy in 13%, and seizures in 12%. Of those imaged, 60% had an abnormal study. Neuroimaging showed abnormalities in ventricles or white- or gray-matter development in 29 patients, septo-optic dysplasia in 10, hydrocephalus in 10, and corpus callosum abnormalities in 8. There was an associated clinical neurologic abnormality in 57% of patients with bilateral optic nerve hypoplasia and in 32% of patients with unilateral optic nerve hypoplasia. Patients with unilateral and bilateral optic nerve hypoplasia frequently have a wide range and common occurrence of concomitant neurologic, endocrine, and systemic abnormalities.

  6. [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

    Science.gov (United States)

    Folligan, K; Roume, J; Razavi, F; Sepaniak, S; Bouvier, R; Morel, Y; Trouillas, J

    2011-03-01

    Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

  7. CT findings of a displaced left upper division bronchus in adults: Its importance for performing safe left pulmonary surgery

    Energy Technology Data Exchange (ETDEWEB)

    Oshiro, Yasuji, E-mail: oshiro4211@yahoo.co.jp [Department of Radiology, National Hospital Organization Okinawa Hospital, 20-14 Ganeko 3-chome, Ginowan city, Okinawa 901-2214 (Japan); Murayama, Sadayuki [Department of Radiology, University of the Ryukus School of Medicine, 207 Uehara, Nishihara-cho, Okinawa 903-0215 (Japan); Ohta, Morio [Department of Surgery, Nakagami Hospital, 6-25-5 Chibana, Okinawa-city, Okinawa 904-2195 (Japan); Teruya, Takao [Second Department of Surgery, University of the Ryukus School of Medicine, 207 Uehara, Nishihara-cho, Okinawa 903-0215 (Japan)

    2013-08-15

    Purpose: The aim of this study was to describe the CT findings of a displaced left upper division bronchus (DLUDB) in adults. Materials and methods: Ten patients with DLUDB were identified. The following CT features were assessed: origin of the DLUDB; distance between the origin of the DLUDB and the origin of the left upper lobe (LUL) bronchus; height of the origin of the DLUDB against the left pulmonary artery (LPA); difference of the main bronchial length; ventilated segment; course of the left pulmonary artery against the DLUDB; and presence of an accessory fissure or other anomalies. Results: DLUDB arose from the posterolateral or lateral aspect of the left main bronchus immediately proximal to the origin of the LUL bronchus. It tended to course along the posterior wall of the LPA and to ventilate the apicoposterior segment with or without the anterior segment. The LPA passed between the displaced bronchus and the lingular bronchus. The origin of the DLUDB was located lower than the inferior wall of the proximal LPA in 6 patients. The accessory fissure between the associated segment and remaining part of the LUL and right tracheal bronchus coexisted in 7 and 3 patients respectively. Conclusion: DLUDB has characteristic findings on CT. Radiologists should be aware of this entity and inform the surgeon as it can prevent serious complications in a patient who may undergo lobectomy of the left lung.

  8. 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

  9. 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

  10. Osteopathia striata: a characteristic X-ray finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)

    Energy Technology Data Exchange (ETDEWEB)

    Barthels, W.; Boepple, D.; Petzel, H.

    1982-12-01

    Two cases of the very rare Goltz-Gorlin syndrome are presented. The relationship of osteopathia striata and focal dermal hypoplasia is discussed, and it is concluded that the osteopathia striata represents the characteristic picture of this ectopic mesodermal abnormality.

  11. Le Fort II midfacial distraction combined with orthognathic surgery in the treatment of nasomaxillary hypoplasia.

    Science.gov (United States)

    Yu, Hongbo; Dai, Jiewen; Wang, Xudong; Zhang, Wenbin; Shen, Steve Guofang

    2014-05-01

    Patients with nasomaxillary hypoplasia have severe facial concavity and compromised skeletal class III malocclusion. Its treatment is still a challenge to surgeons. Our aim was to evaluate the combination of midfacial distraction and orthognathic surgery in the treatment of nasomaxillary hypoplasia. Four patients with nasomaxillary hypoplasia were enrolled in this study. After Le Fort II osteotomy, the rotational distraction of nasomaxillary complex was performed to rehabilitate facial convexity. Then bilateral sagittal split ramus osteotomy with or without Le Fort I osteotomy was used to correct malocclusion. All patients healed uneventfully, and the maxillae moved forward conspicuously. No obvious pain and severe discomfort were complained during distraction. A significant advancement and downward movement of the maxilla were shown by cephalometric analysis. The combination of midfacial distraction and orthognathic surgery provides us an ideal alternative in the treatment of nasomaxillary hypoplasia.

  12. Congenital hypoplasia of the lumbar pedicle with spondylolisthesis: report of 2 cases.

    Science.gov (United States)

    Hsieh, Chang-Sheng; Lee, Sang-Ho; Lee, Hyung Chang; Oh, Hyeong-Seok; Hwang, Byeong-Wook; Park, Sang-Joon; Chen, Jian-Han

    2017-04-01

    Congenital hypoplasia of the spinal pedicle is a rare condition. Previously reported cases were treated conservatively or with posterior instrumented fusion. However, the absence or hypoplasia of the lumbar pedicle may increase the difficulty of pedicle screw fixation and fusion. Herein, the authors describe 2 cases of rare adult congenital hypoplasia of the right lumbar pedicles associated with spondylolisthesis. The patients underwent anterior lumbar interbody fusion with a stand-alone cage as well as percutaneous pedicle screw fixation. This method was used to avoid the difficulties associated with pedicle screw fixation and to attain solid fusion. Both patients achieved satisfactory outcomes after a minimum of 2 years of follow-up. This method may be an alternative for patients with congenital hypoplasia of the lumbar spinal pedicle.

  13. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius)

    Science.gov (United States)

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective fo...

  14. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

    Science.gov (United States)

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  15. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

    Directory of Open Access Journals (Sweden)

    Kobra Shiasi Arani

    2015-01-01

    Full Text Available Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short-limb dwarfism associated with metaphyseal chondrodysplasia. The inheritance is autosomal recessive. Other findings include hair hypoplasia, anemia, immunodeficiency, propensity to infections, gastrointestinal disorders (Hirschsprung disease, anal stenosis, esophageal atresia and malabsorption, defective spermatogenesis, increased risk of malignancies and higher rate of mortality. Immunodeficiency in cartilage-hair hypoplasia may be an isolated B-cell or isolated T-cell immunodeficiency or combined B and T-cell immunodeficiency; however, severe combined immunodeficiency is rare. There is no known treatment for hair hypoplasia. Growth hormone was used with conflicting results for short stature in children with Cartilage-hair hypoplasia. Skeletal problems must be managed with physiotherapy and appropriate orthopedic interventions. Hirschsprung disease, anal stenosis and esophageal atresia should be surgically corrected. Patients with severe hypoplastic anemia require repeated transfusions. Bone marrow transplantation may be required for patients with severe combined immunodeficiency or severe persistent hypoplastic anemia. Treatment with G-CSF is useful for neutropenia. Patients should be monitored closely for developing malignancy such as skin neoplasms, lymphomas and leukemias. Conclusions: Cartilage-hair hypoplasia is an important hereditary disease with different medical aspects. The high rate of consanguineous marriages in Iran necessitates considering CHH in any

  16. Frequency and Distribution of Enamel Hypoplasia in Ancient Skulls from Different Eras and Areas in Greece

    Directory of Open Access Journals (Sweden)

    Vasiliki Ζafiri

    2012-01-01

    Full Text Available This study presents an anthropological analysis of enamel hypoplasias form from 309 skulls fromarchaeological excavations in various geographical areas of the Hellenic landscape belonging todifferent chronological periods. The sample comprises a total of 1386 permanent teeth of differentmorphological types were recognized and graded as to the feature of enamel hypoplasia The examineof the enamel hypoplasia is based on macroscopic observation. The diagram used for the evaluation ofthis feature was the one proposed by Brothwell in 1971. The frequency of enamel hypoplasia in thedentition of ancient skulls from Greece is relatively restricted. Of the total of 1386 teeth examined, 323teeth of the upper jaw displayed the characteristic linear hypoplasia which corresponds to 23.2 % of allcases. In particular, in the skull series we examined the greatest disruption of enamel formation wasfound on the canines of the upper jaw, while it also exists, albeit at a declining frequency, in the firstmolars, the second molars, followed by the lateral incisors and central incisors as well as the thirdmolars. In the first molars, the frequency of hypoplasia is consistently high in the teeth of these skullsfrom all three periods examined (antiquity, the middle ages and the new age.

  17. [Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia].

    Science.gov (United States)

    Moser, U; Singer, G; Schmidt, B; Spendel, S

    2016-08-01

    Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization.

  18. Turning Left

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    An increasing number of left-wing political figures are holding power in Latin America, raising eyebrows in Washington This is a banner election year in Latin America, with nine countries heading to the polls to select new leaders. But the succession of victories by left-leaning politicians, with more likely in the coming months, is expected to draw mounting concern from the United

  19. Advantage of deep inspiration breath hold in left-sided breast cancer patients treated with 3D conformal radiotherapy.

    Science.gov (United States)

    Lastrucci, Luciana; Borghesi, Simona; Bertocci, Silvia; Gasperi, Chiara; Rampini, Andrea; Buonfrate, Giovanna; Pernici, Paola; De Majo, Roberta; Gennari, Pietro Giovanni

    2017-01-21

    To compare 3D-conformal radiotherapy (3D-CRT) treatment plans based on free-breathing (FB) and deep inspiration breath hold (DIBH) and investigated whether DIBH technique enables a decrease of cardiac left anterior descending coronary artery (LADCA) and lungs dose with respect to the FB. Twenty-three left-sided breast cancer patients referred for breast radiotherapy were included. The planning target volume (PTV) encompassed the breast and organs at risk including heart, LADCA, lungs, and contralateral breast, which were contoured in FB and DIBH CT scans. Dose to PTV was 50 Gy in 25 fractions. Two treatment plans were generated for each patient: FB-3D-CRT and DIBH-3D-CRT. Dosimetry parameters were obtained from dose volume histograms. Data were compared using the paired-sample Wilcoxon signed rank test. For heart, LADCA, and left lung, a significant dose reduction was found using DIBH technique. By using DIBH, an average reduction of 25% was observed in LADCA for the volume receiving 20 Gy and of 48% considering the mean heart dose. The DIBH technique results in a significant decrease of dose to the heart, LADCA, and left lung compared to FB.

  20. Management of a case of left tracheal sleeve pneumonectomy under cardiopulmonary bypass: Anesthesia perspectives

    Directory of Open Access Journals (Sweden)

    Aman Jyoti

    2014-01-01

    Full Text Available The lung tumors with carinal involvement are frequently managed with tracheal sleeve pneumonectomy and tracheobronchial anastomosis without use of cardiopulmonary bypass (CPB. Various modes of ventilation have been described during tracheal resection and anastomosis. Use of CPB during this period allows the procedure to be conducted in a more controlled way. We performed tracheal sleeve pneumonectomy for adenoid cystic carcinoma of left lung involving carina. The surgery was performed in two stages. In the first stage, left pneumonectomy was performed and in the second stage after 48 h, tracheobronchial resection and anastomosis was performed under CPB. Second stage was delayed to avoid excessive bleeding (due to heparinization from the extensive vascular raw area left after pneumonectomy. Meticulous peri-operative planning and optimal post-operative care helped in successful management of a complex case, which is associated with high morbidity and mortality.

  1. 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.

  2. Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

    Science.gov (United States)

    Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen

    2015-12-01

    Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluated in neuroimaging studies of NF1 patients.

  3. 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

  4. When the Left is left!

    Directory of Open Access Journals (Sweden)

    Asha J Mathew

    2014-09-01

    Full Text Available Persistent left superior vena cava is an uncommon vascular anomaly; however it is the most common anomaly of the thoracic venous system. It may be stand alone or associated with other congenital heart diseases and even other extracardiac anomalies. It is due to a lack of regression and adsorption of the left anterior cardinal vein. The persistence of this vessel renders a left subclavian approach for interventions on the right heart a challenge. It may be responsible for arrthymiias. We present a report of a persistent left superior vena cava draining into the coronary sinus with a coexisting normal right superior vena cava. Keeping in mind its widespread implications on cardiac procedures and a causative factor of cardiac disturbances we have considered its course, embryological source and clinical significance.

  5. Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

    Science.gov (United States)

    Ajibola, Ayodeji J; Netzloff, Michael; Samaraweera, Ranji; Omar, Said A

    2010-02-01

    We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. Thieme Medical Publishers.

  6. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

    Science.gov (United States)

    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  7. Percutaneous transluminal angioplasty in a patient with chronic cerebrospinal venous insufficiency and persistent left superior vena cava.

    Science.gov (United States)

    Lupattelli, T; Benassi, F; Righi, E; Bavera, P; Bellagamba, G

    2014-04-01

    Chronic cerebrospinal venous insufficiency (CCSVI) is a syndrome characterized by stenoses of the internal jugular veins (IJVs) and/or azygos veins and formation of collateral venous channels. A case of a 57-year-old patient with CCSVI in whom the venous outflow from the left IJV to the right atrium occurred through a venous anomaly, the persistent left superior vena cava (PLSVC), is reported. PLSVC is caused by persistence of the left anterior cardinal vein that drains blood from the limb effluent from the left and the left side of head and neck into coronary sinus (Type a), or in the left atrium (Type b). PLSVC can be associated either with innominate vein hypoplasia or other congenital heart abnormalities. Because of evidence of left innominate vein hypoplasia, angioplasty was not performed using the ordinary route but passing with the balloon directly through the PLSVC up to the left IJV. Finally, angioplasty was carried out in a standard manner in the right IJV as well as in the azygous vein. Confirmation angiogram revealed complete reopening of all treated vessels with no evidence of peri- and postoperative complications. The patient was discharged home the following day in good general conditions. PLSVC is a rare congenital vein anomaly but in case of concomitant innominate vein hypoplasia may prove to be a valuable alternative to treat patients with IJV diseases.

  8. SU-E-T-532: Left-Sided Breast Cancer Irradiation Using Volumatric Modulated Arc Therapy: An Evaluation of Multiple Commercial Systems

    Energy Technology Data Exchange (ETDEWEB)

    Liu, R [Robert Boissoneault Oncology Inst., Ocala, FL (United States); Liu, T [Baylor College of Medicine, Houston, TX (United States); Qi, S [UCLA School of Medicine, Los Angeles, CA (United States)

    2015-06-15

    Purposes: There has been growing interest in treating breast cancer using VMAT technique. Our goal is to compare the dosimetry and treatment delivery parameters for the left-sided breast cancer treatment using various VMAT platforms from commercially available planning systems. Methods: Five consecutive left-sided breast cancer patients initially treated with conventional 3D-conformal radiotherapy (3DCRT) were selected. Four VMAT plans using most popular treatment planning systems, including Eclipse (Version 11, Varian), Pinnacle (Version 9.8, Philips), Monaco (Version 2.03, Elekta) and helical Tomotherapy (V4.0, Accuray). The same structure set and same planning goals were used for all VMAT plans. The dosimetric parameters including target coverage and minimum/maximum/mean, dose-volume endpoints for the selected normal structures: the heart, ipsilateral-/contralateral lung and breast, were evaluated. Other dosimetric indices including heterogeneity index (HI) were evaluated. The treatment delivery parameters, such as monitor unit (MUs) and delivery time were also compared. Results: VMAT increases dose homogeneity to the treated volume and reduces the irradiated heart and left-lung volumes. Compared to the 3DCRT technique, all VMAT plans offer better heart and left-lung dose sparing; the mean heart doses were 4.5±1.6(Monaco), 1.2±0.4(Pinnacle), 1.3± (Eclipse) and 5.6±4.4(Tomo), the mean left-lung doses were 5.9±1.5(Monaco), 3.7±0.7(Pinnacle), 1.4± (Eclipse) and 5.2±1.6 (Tomo), while for the 3DCRT plan, the mean heart and left-Lung doses were 2.9±2.0, and 6.8±4.4 (Gy) respectively. The averaged contralateral-breast and lung mean doses were higher in VMAT plans than the 3DCRT plans but were not statistically significant. Among all the VMAT plans, the Pinnacle plans often yield the lowest right-lung/breast mean doses, and slightly better heterogeneity indices that are similar to Tomotherapy plans. Treatment delivery time of the VMAT plans (except helical

  9. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Science.gov (United States)

    Thavarajah, Harshithaa

    2017-01-01

    Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks' gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks' gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder. PMID:28251002

  10. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Directory of Open Access Journals (Sweden)

    Harshithaa Thavarajah

    2017-01-01

    Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

  11. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    Science.gov (United States)

    Halwai, Hemant Kumar

    2017-01-01

    Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. PMID:28377826

  12. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

    Science.gov (United States)

    Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo

    2017-01-01

    Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.

  13. 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

  14. 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.

  15. The helical three-dimensional CT in the diagnosis of torticollis with occipitocondylar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Ilkko, E.; Tikkakoski, T.; Pyhtinen, J. [Department of Radiology, Oulu University Hospital, Kajaanintie 50, 90220 Oulu (Finland)

    1998-11-01

    Congenital anomalies of the atlanto-occipital and atlantoaxial joints are rare. Those most commonly reported are atlantoaxial instability, basilar impression, anomalies of the odontoid process, laxity of the transverse atlantal ligament and atlanto-occipital fusion. Occipital condylar hypoplasia is infrequent and difficult to recognise. We recently diagnosed it using helical 3D CT in association with torticollis in two patients. The first patient had a several year history of torticollis. The second patient had acute cervical lymphadenitis associated with post-operative torticollis. 3D CT distinctly revealed atlantoaxial subluxation with hypoplasia of the occipital condyles in both cases. (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  16. Successful staged neonatal repair of tetralogy of Fallot with long-segment hypoplasia of the aorta.

    Science.gov (United States)

    Lu, Jimmy C; Shah, Sanket S; Owens, Sonal T; Dorfman, Adam L; Vedre, Ameeth; Goble, Monica M; Hirsch, Jennifer C; Charpie, John R

    2010-01-01

    We describe an extremely rare combination of tetralogy of Fallot (TOF), right-sided cervical aortic arch with long-segment hypoplasia, and other vascular anomalies. A two-stage surgical approach included aortic arch reconstruction followed by right ventricular muscle bundle division and ventricular septal defect closure a few weeks later. The initial clinical presentation, perioperative course, and imaging studies are presented along with a review of the relevant literature. This is the first report of successful neonatal repair of TOF with long-segment hypoplasia of the aorta.

  17. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?

    Directory of Open Access Journals (Sweden)

    Andrei Fernandes Joaquim

    2014-03-01

    Full Text Available The posterior fossa decompression is a form of treatment suggested for patients with basilar invagination (BI secondary to hypoplasia symptomatic of the clivus and atlantoaxial alignment preserved. Based on the fact that the worsening of cranial-cervical kyphosis (decrease of clivus-canal angle to less than 150o can result in anterior brainstem compression, we propose that some patients may benefit from the cranio-cervical fixation. We present a case report of a patient with BI secondary to clivus hypoplasia who underwent cranio-cervical fixation in extension, with a reduction in clivus-canal angle and improvement of symptoms without posterior fossa decompression.

  18. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia.

    Science.gov (United States)

    Reddin, Gemma; Poterucha, Joseph T; Dearani, Joseph A; Warnes, Carole A; Cetta, Frank

    2016-02-01

    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia.

  19. Lipopolysaccharide (LPS introduction during growth and development period of rat’s tooth toward the occurrence of enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Didin Erma Indahyani

    2007-06-01

    Full Text Available The aim of this study is to know the effect of lipopoly saccharide (LPS induction during growth and development period specifically the occurrence of hypoplasia on tooth enamel. 5 day old male wistar rats divided into two groups. Group 1 (control under went no treatment. Group 2 (treatment under went LPS induction every 24 hour for 8 days on buccal fold right maxillary first molar. After 21 days old the rats were sacrificed and the tooth was resected. Hypoplasia Hypo calcification Index (HHI was used to determine the degree of hypoplasia by clinical examination. Radiograph of maxilla was also taken to analyze the apacities of enamel by using COREL DRAW version 11. The result showed that group under went LPS induction hypoplasia occurred on its molar tooth and more radiolucent than control groups. The conclusion is LPS induction during growth and development period of rats tooth causing enamel hypoplasia.

  20. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Kasher, P.R.; Namavar, Y.; van Tijn, P.; Fluiter, K.; Sizarov, A.; Kamermans, M.; Grierson, A.J.; Zivkovic, D.; Baas, F.

    2011-01-01

    Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. The majority of PCH2 and PCH4 cases

  1. 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...

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

    Energy Technology Data Exchange (ETDEWEB)

    Thomas, S.L.; Childress, M.H.; Quinton, B.

    1985-07-01

    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.

  3. Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

    Directory of Open Access Journals (Sweden)

    Malvika Gupta

    2014-01-01

    Full Text Available A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

  4. On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease

    NARCIS (Netherlands)

    Eggens, V.R.C.

    2016-01-01

    Pontocerebellar hypoplasia (PCH) is a recessive neurodegenerative disease with, in most cases, a prenatal onset. The patients suffer from severe intellectual and motor impairments. The majority of patients dies in childhood. This thesis describes novel genes and genotype-phenotype correlations in PC

  5. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

    Science.gov (United States)

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S

    1993-01-01

    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

  6. 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.

  7. 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

  8. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  9. A Unique Way of Learning: Teaching Young Children with Optic Nerve Hypoplasia

    Science.gov (United States)

    Mendiola, Rosalinda; Bahar, Cheryl; Brody, Jill; Slott, Gayle L.

    2005-01-01

    This booklet was inspired by the need of educators and therapists of preschool students who are blind and visually impaired to share their observations of children with Optic Nerve Hypoplasia (ONH) and the therapies found to be helpful when working with these children. The work done at the Blind Childrens Center is very rewarding, and these…

  10. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

    Science.gov (United States)

    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  11. RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

    NARCIS (Netherlands)

    Dijk, T. van; Ruissen, F. van; Jaeger, B.; Rodenburg, R.J.T.; Tamminga, S.; Maarle, M. van; Baas, F.; Wolf, N.I.; Poll-The, B.T.

    2017-01-01

    Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and

  12. 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

  13. Evaluation of a new irradiation left breast method in the inhalation phase; Avaliacao de uma nova metodologia de irradiacao de mama esquerda na fase de inspiracao

    Energy Technology Data Exchange (ETDEWEB)

    Silva, Laura E. da; Gullo, Rafael G.; Ferreira, Diogo A.V.; Silva, Leonardo P. da, E-mail: aura.emilia.fm@gmail.com [Instituto Nacional de Cancer (INCA), Rio de Janeiro, RJ (Brazil)

    2016-07-01

    Radiation therapy is the primary therapeutic approach to breast cancer and involves significant exposure of heart and lungs, especially in cases of left breast. The implementation of a methodology to reduce the dose in these sites is important to ensure better quality of life to the patient. This work aims reduced heart and lung dose when performing the radiotherapy planning considering only the inhalation phase. Three patients with breast left present were scanning with CT during free breathing and respiratory monitoring and the planning has done on both images series. The results showed a reduction in mean heart dose of 53% on average. As for lung volumes, was obtained a mean reduction of 44.6% and 51% of the left lung which received 10 Gy and 20 Gy, respectively. This study showed that the use of the respiratory gating radiotherapy in the left breast in inhalation phase can reduce heart and lung doses. (author)

  14. Regional deposition of particles in an image-based airway model: large-eddy simulation and left-right lung ventilation asymmetry.

    Science.gov (United States)

    Lambert, Andrew R; O'Shaughnessy, Patrick; Tawhai, Merryn H; Hoffman, Eric A; Lin, Ching-Long

    2011-01-01

    Regional deposition and ventilation of particles by generation, lobe and lung during steady inhalation in a computed tomography (CT) based human airway model are investigated numerically. The airway model consists of a seven-generation human airway tree, with oral cavity, pharynx and larynx. The turbulent flow in the upper respiratory tract is simulated by large-eddy simulation. The flow boundary conditions at the peripheral airways are derived from CT images at two lung volumes to produce physiologically-realistic regional ventilation. Particles with diameter equal to or greater than 2.5 microns are selected for study because smaller particles tend to penetrate to the more distal parts of the lung. The current generational particle deposition efficiencies agree well with existing measurement data. Generational deposition efficiencies exhibit similar dependence on particle Stokes number regardless of generation, whereas deposition and ventilation efficiencies vary by lobe and lung, depending on airway morphology and airflow ventilation. In particular, regardless of particle size, the left lung receives a greater proportion of the particle bolus as compared to the right lung in spite of greater flow ventilation to the right lung. This observation is supported by the left-right lung asymmetry of particle ventilation observed in medical imaging. It is found that the particle-laden turbulent laryngeal jet flow, coupled with the unique geometrical features of the airway, causes a disproportionate amount of particles to enter the left lung.

  15. ARE LEFT HANDED SURGEONS LEFT OUT?

    OpenAIRE

    SriKamkshi Kothandaraman; Balasubramanian Thiagarajan

    2012-01-01

    Being a left-handed surgeon, more specifically a left-handed ENT surgeon, presents a unique pattern of difficulties.This article is an overview of left-handedness and a personal account of the specific difficulties a left-handed ENT surgeon faces.

  16. Modified partially wide tangents technique in post-mastectomy radiotherapy for patients with left-sided breast cancer

    Institute of Scientific and Technical Information of China (English)

    ZHANG Qian; CHEN Jia-yi; HU Wei-gang; GUO Xiao-mao

    2010-01-01

    Background The role of internal mammary nodes (IMN) irradiation for breast cancer patients after mastectomy remains controversial. This study aimed to compare different techniques for radiation of the chest wall (CW) and IMN post-mastectomy for left-breast cancer patients in terms of dose homogeneity within planning target volume (PTV) and dose to critical structures.Methods Thirty patients underwent CT simulation, while CW, IMN, left lung, heart and contralateral breast were contoured. Three three-dimensional conformal radiotherapy (3D-CRT) techniques, namely, standard tangents, partially wide tangents (PWT), and modified PWT techniques plus intensity modulated radiotherapy (IMRT) technique have been used to radiate CW and IMN. In addition to the target coverage and dose homogeneity, we also evaluated the dose to the critical structures including heart, left lung and contralateral breast.Results All three 3D-CRT techniques provided satisfactory coverage regarding total PTV. The PWT and the modified PWT gave better coverage of IMN PTV with V47.5 of (96.83±4.56)% and (95.19±3.90)% compared to standard tangents ((88.16±7.77)%), P <0.05. The standard tangents also contributed the biggest IMN VD105%, VD110%, VD115% and VD120%. The lowest mean dose of the heart was achieved by the modified PWT ((8.47±2.30) Gy), compared with PWT ((11.97±3.54)Gy) and standard tangents ((11.18±2.53) Gy). The mean dose of lung and contralateral breast with the modified PWT was significantly lower than those with PWT. Comparing IMRT with the modified PWT, both techniques provided satisfactory coverage. The conformity indexes (CI) with IMRT (CI1: 0.71±0.02; CI2: 0.64±0.02) were better than those with the modified PWT (CI1: 0.50±0.02; CI2: 0.45±0.02). The mean dose, V5, V10 and V5-10 of heart and left lung with the modified PWT were significantly lower than those with the IMRT. The mean dose and VD2% of contralateral breast with the modified PWT were not significantly different

  17. MRI and three dimensional ultrasonography in the assessment of pulmonary hypoplasia in fetuses with urinary tract anomalies

    Directory of Open Access Journals (Sweden)

    Mariam Raafat

    2016-12-01

    Conclusion: There is a good concordance between 3D-US and MRI in the evaluation of PH in fetuses with UTM. MRI could be reserved for borderline cases of pulmonary hypoplasia and the difficult diagnostic situations.

  18. Patient-Reported Esthetic and Functional Outcomes of Primary Total Laparoscopic Intestinal Vaginoplasty in Transgender Women With Penoscrotal Hypoplasia

    NARCIS (Netherlands)

    Bouman, M.B.; Sluis, W.B. van der; Woudenberg Hamstra, L.E. van; Buncamper, M.E.; Kreukels, B.P.; Meijerink, W.J.H.J.; Mullender, M.G.

    2016-01-01

    INTRODUCTION: Puberty-suppressing hormonal treatment may result in penoscrotal hypoplasia in transgender women, making standard penile inversion vaginoplasty not feasible. For these patients, intestinal vaginoplasty is a surgical alternative, but knowledge on patient-reported postoperative outcomes

  19. Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex.

    Science.gov (United States)

    Genuardi, M; Gasparini, P; Neri, G; Zelante, L

    1997-01-20

    The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.

  20. 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.

  1. A rare case of type 1 diabetes mellitus with pituitary hypoplasia.

    Science.gov (United States)

    Pinto, Jostol; Sudeep, K; Venkatesha, B M

    2014-01-01

    Growth failure and pubertal abnormalities are not uncommon in chronic uncontrolled metabolic diseases like diabetes mellitus. We present a young girl with uncontrolled type 1 diabetes mellitus, who presented with short stature and primary amenorrhea, and on evaluation was found to have anterior pituitary hypoplasia. In addition to uncontrolled diabetes mellitus, she presented with early onset growth failure and lack of spontaneous secondary sexual characteristics. She had central hypothyroidism and inappropriately normal gonadotropin levels. However her serum cortisol levels were normal. MRI of the sellar-suprasellar region revealed a small anterior pituitary gland with thinning of the pituitary stalk consistent with pituitary hypoplasia. While uncontrolled type 1 diabetes itself may cause growth retardation and pubertal abnormalities, this girl had coexisting pituitary maldevelopment - a rare co-existence of two major illnesses of unrelated etiologies. The partial pituitary hormonal deficiency, which spared the hypothalamo-pituitary-adrenal axis, may be due to a transcription factor defect.

  2. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities.

    Science.gov (United States)

    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto

    2011-06-01

    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  3. 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.

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

    Directory of Open Access Journals (Sweden)

    P R Geetha Priya

    2010-01-01

    Full Text Available 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 proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis.

  5. 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.

  6. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?

    OpenAIRE

    2014-01-01

    The posterior fossa decompression is a form of treatment suggested for patients with basilar invagination (BI) secondary to hypoplasia symptomatic of the clivus and atlantoaxial alignment preserved. Based on the fact that the worsening of cranial-cervical kyphosis (decrease of clivus-canal angle to less than 150o) can result in anterior brainstem compression, we propose that some patients may benefit from the cranio-cervical fixation. We present a case report of a patient with BI secondary to...

  7. Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focus

    OpenAIRE

    Garcia-Filion, Pamela; Borchert, Mark

    2013-01-01

    Optic nerve hypoplasia (ONH), a congenital malformation characterized by an underdeveloped optic nerve, is a seemingly epidemic cause of childhood blindness and visual impairment with associated lifelong morbidity. While the prenatal determinants of ONH are unknown, early case reports have led to a longstanding speculation that risky health behaviors (e.g. recreational drugs, alcohol) are a likely culprit. There has yet to be a systematic review of the epidemiology of ONH to assess the common...

  8. Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia

    OpenAIRE

    Deprez, Fabrice; Coulier, Julie; Rommel, Denis; Boschi, Antonella

    2014-01-01

    Background: Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. Case Report: We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). Conclusions: CT evaluation of the skull base is essential to establish this diagn...

  9. [Unilateral pulmonary artery agenesis with ipsilateral pulmonary hypoplasia as incidental finding in an asthmatic patient].

    Science.gov (United States)

    Contreras-Arias, Catalina; Duarte, Diana; Ramírez, Luis F; Serrano, Carlos D

    2014-01-01

    Unilateral absence of a pulmonary artery is an uncommon congenital heart disease. It can be related to respiratory symptoms such as asthma, an unusual finding in some of these patients. This paper reports the case of a 4-year-old male with recurrent respiratory infections and asthma symptoms, in who further studies found agenesia of right pulmonary artery with pulmonary hypoplasia of the same side.

  10. 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

  11. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

    Science.gov (United States)

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

    2014-03-01

    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

  12. Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kono, Tatsuo [Dokkyo University, Department of Radiology, Mibu, Shimotsuga, Tochigi (Japan); Moriyama, Nobuko [Ibaraki Children' s Hospital, Department of Paediatrics, Mito, Ibaraki (Japan); Tanaka, Ryuta [University of Tsukuba, Department of Paediatrics, Tsukubu, Ibaraki (Japan); Iwasaki, Nobuaki [Ibaraki Prefectural University of Health Sciences, Department of Paediatrics, Ami, Ibaraki (Japan); Arai, Jun-ichi [Ibaraki Children' s Hospital, Department of Neonatology, Mito, Ibaraki (Japan)

    2008-10-15

    Brain MR images of a 14-month-old boy with lissencephaly and cerebellar hypoplasia showed numerous radiating linear structures in the white matter. This finding was identical to the tigroid or leopard-skin pattern that is seen in Pelizaeus-Merzbacher disease or metachromatic leukodystrophy and represents the perivascular white matter spared from demyelination. We speculate that mutations of the reelin gene, expressed both in the cortex and in the white matter, may play an important role in its development. (orig.)

  13. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.

    Science.gov (United States)

    Young, Marielle P; Sawyer, Briana L; Hartnett, M Elizabeth

    2014-04-01

    Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.

  14. Mechanisms of cadmium-caused eye hypoplasia and hypopigmentation in zebrafish embryos

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ting, E-mail: zting@webmail.hzau.edu.cn; Zhou, Xin-Ying, E-mail: 290356082@qq.com; Ma, Xu-Fa, E-mail: xufama@mail.hzau.edu.cn; Liu, Jing-Xia, E-mail: ichliu@mail.hzau.edu.cn

    2015-10-15

    Highlights: Using high-throughput in situ hybridization screening, we found that genes labeling the neural crest and its derivative pigment cells were sensitive to cadmium toxicity during zebrafish organogenesis, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in cadmium-exposed embryos. Based on neural crest markers, we identified the doses and times of cadmium exposure that cause damage to the zebrafish organogenesis, and we also found that compounds BIO or RA could neutralize the toxic effects of cadmium. - Abstract: Cadmium-caused head and eye hypoplasia and hypopigmentation has been recognized for a long time, but knowledge of the underlying mechanisms is limited. In this study, we found that high mortality occurred in exposed embryos after 24 hpf, when cadmium (Cd) dosage was above 17.8 μM. Using high-throughput in situ hybridization screening, we found that genes labelling the neural crest and its derivative pigment cells exhibited obviously reduced expression in Cd-exposed embryos from 24 hpf, 2 days earlier than head and eye hypoplasia and hypopigmentation occurred. Moreover, based on expression of crestin, a neural crest marker, we found that embryos before the gastrula stage were more sensitive to cadmium toxicity and that damage caused by Cd on embryogenesis was dosage dependent. In addition, by phenotype observation and detection of neural crest and pigment cell markers, we found that BIO and retinoic acid (RA) could neutralize the toxic effects of Cd on zebrafish embryogenesis. In this study, we first determined that Cd blocked the formation of the neural crest and inhibited specification of pigment cells, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in Cd-exposed embryos. Moreover, we found that compounds BIO or RA could neutralize the toxic effects of Cd.

  15. Multivectorial, external halo-assisted midface distraction in patients with severe hypoplasia.

    Science.gov (United States)

    Malagon, Hector Hidalgo; Romo, Gabriela Wong; Quintero Mosqueda, Francisco Rafael; Magaña, Fernando Gonzalez

    2008-11-01

    Osteogenesis distraction is an increasingly used technique for the correction of facial deformities because it offers a faster and more controlled growth of the hypoplasic bone along with the elongation of the soft tissues. In this article, we describe the technique and our experience in midface distraction using an external multivectoral distraction device (BLUE Device; W. Lorenz, Jacksonville, FL) and custom-made midface osteotomies for the correction of severe hypoplasia.

  16. The posterior communicating artery: morphometric study in 3D angio-computed tomography reconstruction. The proof of the mathematical definition of the hypoplasia.

    Science.gov (United States)

    Dzierżanowski, J; Szarmach, A; Słoniewski, P; Czapiewski, P; Piskunowicz, M; Bandurski, T; Szmuda, T

    2014-08-01

    The aim of this study was to investigate the morphometry of the posterior communicating artery (PCoA), on the basis of angio-computed tomography (CT), and to give proof of the mathematical definition of the term "hypopal sia of the PCoA". One hundred 3-dimensional (3D) angio-CT images, performed in adult patients with bilateral reconstruction of the PCoA (200 results) were used tocalculate the morphometry of the vessel. The average length of the vessel on the right side was 14.48 ± 3.47 mm, andon the left side 14.98 ± 4.77 mm (in women 14.75 mm, in men 14.70 mm). The mean of the diameter at the "proximal" point (the junction with P1) on the right side was 1.49 ± 0.51 mm, and on the left 1.46 ± 0.47 mm (in women 1.44 mm and in men 1.51 mm). The mean of the diameter in the "distal" part (the connection with ICA) on the right side was 1.4 ± 0.49 mm, and on the left 1.37 ± 0.41 mm (in women 1.38 mm, and in men 1.39 mm). No statistical correlation between the length and the diameter of the PCoA in relation to the sex and side was shown. On the basis of our measurements, we defined the hypoplasia of the artery as the estimated value less than the average diameter minus the standard deviation. The percentage distribution was as follows: the left artery 15.5%, the right artery 24%, women 11.5%, and the men 9%. Similarly to the above parameters, we have not found any statistical differences. The presence of the foetal origin was noted in 25% of the radiological examinations. The infundibular widening was visualised in 11.5% of cases of 3D reconstructions. The agenesis of PCoA was found in 9% (never bilaterally), and in 1 case the unilateral duplication of the artery was observed. No statistical differences between those parameters in relation to sex and the examined side were revealed. Morphological calculation of the PCoA on the basis of angio-CT from adult patients did not show any statistical differences depending on sex or the investigated side. The presented

  17. 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. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  18. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

    Science.gov (United States)

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M

    1995-11-01

    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

  19. 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.

  20. [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.

  1. Hypoplastic left heart syndrome

    Science.gov (United States)

    HLHS; Congenital heart - hypoplastic left heart; Cyanotic heart disease - hypoplastic left heart ... Hypoplastic left heart is a rare type of congenital heart disease. It is more common in males than in ...

  2. Prenatal and neonatal variables associated with enamel hypoplasia in deciduous teeth in low birth weight preterm infants

    Directory of Open Access Journals (Sweden)

    Kátia Maria Dmytraczenko Franco

    2007-12-01

    Full Text Available This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW and a matched control group of term children with normal birth weight (NBW. The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Women's Health (CAISM-UNICAMP. FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE, 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result.

  3. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

    Science.gov (United States)

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila

    2014-01-01

    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).

  4. 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.

  5. Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum [Hanyang University College of Medicine, Seoul Hospital, Seoul (Korea, Republic of); Ryu, Jeong Ah [Dept. of Radiology, Hanyang University College of Medicine, Guri Hospital, Guri (Korea, Republic of); Bae, Ji Yoon [Dept. of Pathology, National Police Hospital, Seoul (Korea, Republic of)

    2013-10-15

    Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

  6. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome.

    Science.gov (United States)

    Moss, Robert A

    2013-01-01

    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation.

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

    Science.gov (United States)

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu

    2015-01-01

    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. PMID:26294998

  8. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius).

    Science.gov (United States)

    Armién, A G; McRuer, D L; Ruder, M G; Wünschmann, A

    2013-01-01

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell migration, placement, and maturation in early embryonic development. The etiology of this condition remains undetermined. Congenital central nervous system disorders have rarely been reported in birds.

  9. 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.

  10. Relationship of A1 segment hypoplasia to anterior communicating artery aneurysm morphology and risk factors for aneurysm formation.

    Science.gov (United States)

    Rinaldo, Lorenzo; McCutcheon, Brandon A; Murphy, Meghan E; Bydon, Mohamad; Rabinstein, Alejandro A; Lanzino, Giuseppe

    2016-09-30

    OBJECTIVE Hypoplasia of the A1 segment of the anterior cerebral artery is frequently observed in patients with anterior communicating artery (ACoA) aneurysms. The effect of this anatomical variant on ACoA aneurysm morphology is not well understood. METHODS Digital subtraction angiography images were reviewed for 204 patients presenting to the authors' institution with either a ruptured or an unruptured ACoA aneurysm. The ratio of the width of the larger A1 segment to the smaller A1 segment was calculated. Patients with an A1 ratio greater than 2 were categorized as having A1 segment hypoplasia. The relationship of A1 segment hypoplasia to both patient and aneurysm characteristics was then assessed. RESULTS Of 204 patients that presented with an ACoA aneurysm, 34 (16.7%) were found to have a hypoplastic A1. Patients with A1 segment hypoplasia were less likely to have a history of smoking (44.1% vs 62.9%, p = 0.0410). ACoA aneurysms occurring in the setting of a hypoplastic A1 were also found to have a larger maximum diameter (mean 7.7 vs 6.0 mm, p = 0.0084). When considered as a continuous variable, increasing A1 ratio was associated with decreasing aneurysm dome-to-neck ratio (p = 0.0289). There was no significant difference in the prevalence of A1 segment hypoplasia between ruptured and unruptured aneurysms (18.9% vs 10.7%; p = 0.1605). CONCLUSIONS Our results suggest that a hypoplastic A1 may affect the morphology of ACoA aneurysms. In addition, the relative lack of traditional risk factors for aneurysm formation in patients with A1 segment hypoplasia argues for the importance of hemodynamic factors in the formation of ACoA aneurysms in this anatomical setting.

  11. Hypoplasia-associated severe early childhood caries--a proposed definition.

    Science.gov (United States)

    Caufield, P W; Li, Y; Bromage, T G

    2012-06-01

    We propose a new classification of severe early childhood caries (S-ECC): hypoplasia-associated severe early childhood caries (HAS-ECC). This form of caries affects mostly young children living at or below poverty, characterized by structurally damaged primary teeth that are particularly vulnerable to dental caries. These predisposing developmental dental defects are mainly permutations of enamel hypoplasia (EHP). Anthropologists and dental researchers consider EHP an indicator for infant and maternal stresses including malnutrition, a variety of illnesses, and adverse birthing conditions. Differentiation of HAS-ECC from other forms of early childhood caries is warranted because of its distinct etiology, clinical presentation, and eventual management. Defining HAS-ECC has important clinical implications: Therapies that control or prevent other types of caries are likely to be less effective with HAS-ECC because the structural integrity of the teeth is compromised prior to their emergence into the oral cavity. By the time these children present to the dentist, the treatment options often become limited to surgical management under general anesthesia. To prevent HAS-ECC, dentists must partner with other health providers to develop interventions that begin with pregnant mothers, with the aim of eliminating or ameliorating the covariates accompanying poverty, including better pre- and post-natal care and nutrition.

  12. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

    Science.gov (United States)

    Li, Zejuan; Schonberg, Rhonda; Guidugli, Lucia; Johnson, Amy Knight; Arnovitz, Stephen; Yang, Sandra; Scafidi, Joseph; Summar, Marshall L; Vezina, Gilbert; Das, Soma; Chapman, Kimberly; del Gaudio, Daniela

    2016-01-01

    Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy, microcephaly, severe mental and motor impairments and seizures. Mutations in 11 genes have been reported in 8 out of 10 forms of PCH. Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase gene (RARS2) have been recently associated with PCH type 6, which is characterized by early-onset encephalopathy with signs of oxidative phosphorylation defect. Here we describe the clinical presentation, neuroimaging findings and molecular characterizations of two siblings with a clinical diagnosis of PCH who displayed a novel variant (c.-2A>G) in the 5′-UTR of the RARS2 gene in the homozygous state. This variant was identified through next-generation sequencing testing of a panel of nine genes known to be involved in PCH. Gene expression and functional studies demonstrated that the c.-2A>G sequence change directly leads to a reduced RARS2 messenger RNA expression in the patients by decreasing RARS2 promoter activity, thus providing evidence that mutations in the RARS2 promoter are likely to represent a new causal mechanism of PCH6. PMID:25809939

  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. Accuracy of imaging parameters in the prediction of lethal pulmonary hypoplasia secondary to mid-trimester prelabor rupture of fetal membranes: a systematic review and meta-analysis.

    Science.gov (United States)

    van Teeffelen, A S P; Van Der Heijden, J; Oei, S G; Porath, M M; Willekes, C; Opmeer, B; Mol, B W J

    2012-05-01

    In women who have suffered mid-trimester prelabor rupture of membranes (PPROM), prediction of pulmonary hypoplasia is important for optimal management. We performed a systematic review to assess the capacity of imaging parameters to predict pulmonary hypoplasia. We searched for published articles that reported on biometric parameters and allowed the construction of a 2 × 2 table, comparing at least one of these parameters with the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality and we calculated sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia. Overall performance was assessed by summary receiver-operating characteristics (sROC) analyses that were performed with bivariate meta-analysis. We detected 13 studies that reported on the prediction of lethal pulmonary hypoplasia. The quality of the included studies was poor to mediocre. The estimated sROC curves for the chest circumference/abdominal circumference ratio and other parameters showed limited accuracy in the prediction of pulmonary hypoplasia. In women with mid-trimester PPROM, the available evidence indicates limited accuracy of biometric parameters in the prediction of pulmonary hypoplasia.

  16. Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report

    Science.gov (United States)

    2010-01-01

    Background Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system. Case report A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. Conclusions We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral) caused by mutations in a yet unidentified gene is responsible for: 1) skeletal dysplasia, 2) inappropriate interactions between the bronchial mesoderm and endodermal

  17. Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Acién Maribel

    2010-04-01

    Full Text Available Abstract Background Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies affecting different mesodermal organs such as the heart, lung, and urogenital system. Case report A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and Mayer-Rokitansky-Kuster-Hauser syndrome in adulthood is reported here. The i.v. pyelography showed right renal agenesis with a normal left kidney and ureter. Ultrasound and Magnetic Resonance Imaging also showed right renal agenesis with multicystic embryonary remnants in the right hemipelvis probably corresponding to a dysgenetic kidney. An uretrocystoscopy showed absence of ectopic ureter and of the right hemitrigone. She was scheduled for a diagnostic laparoscopy and creation of a neovagina according to the McIndoe technique with a prosthesis and skin graft. Laparoscopy confirmed the absence of the uterus. On both sides, an elongated, solid, rudimentary uterine horn could be observed. Both ovaries were also elongated, located high in both abdominal flanks and somewhat dysgenetics. A conventional cytogenetic study revealed a normal female karyotype 46, XX at a level of 550 GTG bands. A CGH analysis was performed using a 244K oligoarray CGH detecting 11 copy number variants described as normal variants in the databases. The 17q12 and 22q11.21 microdeletions described in other MRKH patients were not present in this case. Four years after operation her evolution is normal, without symptoms and the neovagina is adequately functional. The geneticists have studied her family history and the pedigree of the family is shown. Conclusions We suggest that primary damage to the mesoderm (paraaxil, intermediate, and lateral caused by mutations in a yet unidentified gene is responsible for: 1 skeletal dysplasia, 2 inappropriate interactions between the bronchial

  18. 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

  19. Quantitative Anatomy of the Growing Lungs in the Human Fetus

    Directory of Open Access Journals (Sweden)

    Michał Szpinda

    2015-01-01

    Full Text Available Using anatomical, digital, and statistical methods we examined the three-dimensional growth of the lungs in 67 human fetuses aged 16–25 weeks. The lung dimensions revealed no sex differences. The transverse and sagittal diameters and the base circumference were greater in the right lungs while the lengths of anterior and posterior margins and the lung height were greater in the left lungs. The best-fit curves for all the lung parameters were natural logarithmic models. The transverse-to-sagittal diameter ratio remained stable and averaged 0.56±0.08 and 0.52±0.08 for the right and left lungs, respectively. For the right and left lungs, the transverse diameter-to-height ratio significantly increased from 0.74±0.09 to 0.92±0.08 and from 0.56±0.07 to 0.79±0.09, respectively. The sagittal diameter-to-height ratio significantly increased from 1.41±0.23 to 1.66±0.18 in the right lung, and from 1.27±0.17 to 1.48±0.22 in the left lung. In the fetal lungs, their proportionate increase in transverse and sagittal diameters considerably accelerates with relation to the lung height. The lung dimensions in the fetus are relevant in the evaluation of the normative pulmonary growth and the diagnosis of pulmonary hypoplasia.

  20. Quantitative Anatomy of the Growing Lungs in the Human Fetus.

    Science.gov (United States)

    Szpinda, Michał; Siedlaczek, Waldemar; Szpinda, Anna; Woźniak, Alina; Mila-Kierzenkowska, Celestyna; Badura, Mateusz

    2015-01-01

    Using anatomical, digital, and statistical methods we examined the three-dimensional growth of the lungs in 67 human fetuses aged 16-25 weeks. The lung dimensions revealed no sex differences. The transverse and sagittal diameters and the base circumference were greater in the right lungs while the lengths of anterior and posterior margins and the lung height were greater in the left lungs. The best-fit curves for all the lung parameters were natural logarithmic models. The transverse-to-sagittal diameter ratio remained stable and averaged 0.56 ± 0.08 and 0.52 ± 0.08 for the right and left lungs, respectively. For the right and left lungs, the transverse diameter-to-height ratio significantly increased from 0.74 ± 0.09 to 0.92 ± 0.08 and from 0.56 ± 0.07 to 0.79 ± 0.09, respectively. The sagittal diameter-to-height ratio significantly increased from 1.41 ± 0.23 to 1.66 ± 0.18 in the right lung, and from 1.27 ± 0.17 to 1.48 ± 0.22 in the left lung. In the fetal lungs, their proportionate increase in transverse and sagittal diameters considerably accelerates with relation to the lung height. The lung dimensions in the fetus are relevant in the evaluation of the normative pulmonary growth and the diagnosis of pulmonary hypoplasia.

  1. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    DEFF Research Database (Denmark)

    Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R C

    2017-01-01

    Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg 2+ -dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a un...

  2. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    Directory of Open Access Journals (Sweden)

    Guru Dutta Satyarthee

    2016-01-01

    Full Text Available Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating.

  3. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    Science.gov (United States)

    Satyarthee, Guru Dutta; Mankotia, Dipanker Singh

    2016-01-01

    Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating. PMID:27857796

  4. A Multidisciplinary Approach to Educating Preschool Children with Optic Nerve Hypoplasia and Septo-Optic Nerve Dysplasia.

    Science.gov (United States)

    Bahar, Cheryl; Brody, Jill; McCann, Mary Ellen; Mendiola, Rosalinda; Slott, Gayle

    2003-01-01

    This article discusses the observations and experiences of a multidisciplinary team at the Blind Childrens Center in Los Angeles, which works specifically with children from birth to 5 years of age who have been diagnosed with optic nerve hypoplasia and may have septo-optic displasia. Strategies for educational interventions are explained.…

  5. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

    Science.gov (United States)

    Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; Markus, Barak; Cohen, Idan; Langer, Yshaia; Marcus, Mira; Lifshitz, Tova; Kadir, Rotem; Birk, Ohad S

    2014-05-01

    Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.

  6. 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

    2013-12-05

    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.

  7. Esthetic and endosurgical management of Turner's hypoplasia; a sequlae of trauma to developing tooth germ.

    Science.gov (United States)

    Bhushan, B A; Garg, S; Sharma, D; Jain, M

    2008-01-01

    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.

  8. Hypoplasia of a permanent incisor produced by primary incisor intrusion: a case report.

    Science.gov (United States)

    Altun, Ceyhan; Esenlik, Elçin; Tözüm, Tolga Fikret

    2009-04-01

    Orofacial trauma is a serious orodental and general health problem that may have medical, esthetic and psychological consequences for children and their parents. When the root of the primary tooth is close to the unerupted permanent tooth, primary tooth trauma may result in developmental disturbances and pulpal reaction in that permanent tooth. We report an unusual case in which injury to the primary dentition resulted in developmental disturbances in the crown and the calcified structures in the pulp chamber of the permanent tooth. Localized malformation of the crown and enamel hypoplasia were treated with a light-cured composite resin restoration. We also discuss the formation of pulp calcification and the need for endodontic treatment.

  9. Correction of pectus excavatum with breast hypoplasia using simultaneous pectus bar procedure and augmentation mammoplasty.

    Science.gov (United States)

    Park, Hyung Joo; Gu, Ja Hea; Jang, Joon Chul; Dhong, Eun-Sang; Yoon, Eul-Sik

    2014-08-01

    Most women with asymmetric pectus excavatum suffer from hypoplastic breasts. Hence, aesthetic correction of pectus excavatum has to address thoracic wall deformity, breast hypoplasia, and asymmetry.In retrospective series, 21 patients with a diagnosis of pectus excavatum with hypoplastic breasts were corrected using the pectus bar procedure and subpectoral augmentation mammoplasty. Results were assessed by analyzing prospectively collected data and calculating pectus indices from computed tomographic scans. At 12 months postoperatively, cosmetic evaluations were performed by the patients and by an independent, board-certified plastic surgeon using score from 0 (very poor) to 4 (very good).Cosmetic results evaluated by plastic surgeon were good (3.33 ± 0.03) and patient satisfaction was high (3.52 ± 0.03). Furthermore, indices of pectus excavatum were corrected to near normal.The authors consider that the pectus bar procedure with subpectoral augmentation mammoplasty is useful for the aesthetic correction of pectus excavatum with hypoplastic breasts.

  10. The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.

    Science.gov (United States)

    Akhter, N; Begum, B N; Newaz, M

    2015-07-01

    We report on a 22 years old lady with aplasia of uterus and most of the vagina with normal secondary sexual characteristics, unilateral renal hypoplasia and anomalies of cervico throacic somites (MURCS Association), growth retardation, cardiac defect and congenital urethrovaginal fistula. Although there is a broad spectrum of anomalies described with MURCS association genitourinary fistula is not yet reported and reviewed in published articles. The relevance of this paper is to show the importance of further investigation in cases of primary amenorrhoea with mullerian agenesis to establish that the patient has MURCS association and not simply MRKH (Mayer Rokitansky-Kusterhauser Syndrome) syndrome. Consequently we should provide guidance to the patients and their families about the best way to conduct the case including genetic counseling and family screening.

  11. ODONTOID PROCESS HYPOPLASIA AND BIPARTITE ATLAS ASSOCIATED WITH ATLANTO-AXIAL INSTABILITY

    Directory of Open Access Journals (Sweden)

    Luis Miguel Sousa Marques

    Full Text Available ABSTRACT Surgical treatment of craniocervical junction pathology has evolved considerably in recent years with the implementation of short fixation techniques rather than long occipito-cervical fixation (sub-axial. It is often difficult and sometimes misleading to determine the particular bone and vascular features (high riding vertebral artery, for instance using only the conventional images in three orthogonal planes (axial, sagittal and coronal. The authors describe a rare clinical case of congenital malformation of the craniovertebral junction consisting of hypoplasia/agenesis of the odontoid process and bipartite atlas associated with atlantoaxial instability which was diagnosed late in life in a patient with a previous history of rheumatologic disease. The authors refer to the diagnostic process, including new imaging techniques, and three-dimensional multiplanar reconstruction. The authors also discuss the surgical technique and possible alternatives.

  12. Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males.

    Science.gov (United States)

    Bosma, J F; Henkin, R I; Christiansen, R L; Herdt, J R

    1981-01-01

    Two males, 9-11 and 29-31 years of age, with severe hypoplasia of the nose, hypoplasia of the eyes, sensory abnormalities of taste and smell, and hypogonadism were studied. The nasal septum, cribriform plates and foramina of the vomeronasal (vn) nerves were demonstrated in both; the capsule of the vn organ was shown in one. Their nasal skeleton, demonstrated by tomoradiography, had grown in early embryological form. The nose was not patent in either patient. In both, the cranial vaults, orbits, epipharynges, and oral cavities were indented toward the hypoplastic nasal composite and the peripheral dimensions of their faces were normal for their respective ages. Each patient had impaired visual function with cataracts and colobomata. Each was unable to recognize the smell of any vapor (Type I hyposmia), and had severe impairment of recognition of any tastant (recognition hypogeusia); detection of vapors and of tastants were in appropriate anatomical areas. Each was unable orally to recognize standard plastic forms (astereognosis) though each could recognize the forms manually. Each patient had bilateral inguinal hernias, one or two undescended testes, and hypogonadotrophic hypogonadism. These patients do not fall within the spectrum of arrhinencephaly because of the presence of medial structure of attachment of the falx cerebri and because of their normal intelligence. Distinction of patients with this pattern of abnormalities from arrhinencephaly is important by reason of their potentiality of normal mental development. We hypothesize that their abnormalities resulted from an embryological disruption that occurred in the first trimester of pregnancy. The embryogenesis of the nasal composite is presumed to have been adequate for reciprocal induction of the anlagen of the forebrain. Development of their faces to normal peripheral dimensions indicates that the nasal composite is not essential for gross facial enlargement.

  13. X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

    Science.gov (United States)

    Ismail, Heba M; Rincon, Marielisa

    2014-07-01

    Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency. Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing. We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions?

  14. [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)

  15. 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.

  16. Perceptual Speech Assessment After Anterior Maxillary Distraction in Patients With Cleft Maxillary Hypoplasia.

    Science.gov (United States)

    Richardson, Sunil; Seelan, Nikkie S; Selvaraj, Dhivakar; Khandeparker, Rakshit V; Gnanamony, Sangeetha

    2016-06-01

    To assess speech outcomes after anterior maxillary distraction (AMD) in patients with cleft-related maxillary hypoplasia. Fifty-eight patients at least 10 years old with cleft-related maxillary hypoplasia were included in this study irrespective of gender, type of cleft lip and palate, and amount of required advancement. AMD was carried out in all patients using a tooth-borne palatal distractor by a single oral and maxillofacial surgeon. Perceptual speech assessment was performed by 2 speech language pathologists preoperatively, before placement of the distractor device, and 6 months postoperatively using the scoring system of Perkins et al (Plast Reconstr Surg 116:72, 2005); the system evaluates velopharyngeal insufficiency (VPI), resonance, nasal air emission, articulation errors, and intelligibility. The data obtained were tabulated and subjected to statistical analysis using Wilcoxon signed rank test. A P value less than .05 was considered significant. Eight patients were lost to follow-up. At 6-month follow-up, improvements of 62% (n = 31), 64% (n = 32), 50% (n = 25), 68% (n = 34), and 70% (n = 35) in VPI, resonance, nasal air emission, articulation, and intelligibility, respectively, were observed, with worsening of all parameters in 1 patient (2%). The results for all tested parameters were highly significant (P ≤ .001). AMD offers a substantial improvement in speech for all 5 parameters of perceptual speech assessment. Copyright © 2016 The American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  17. Treatment of severe maxillary cleft hypoplasia in a case with missing premaxilla with anterior maxillary distraction using tooth-borne hyrax appliance

    Directory of Open Access Journals (Sweden)

    Akshai Shetty

    2015-01-01

    Full Text Available Cleft orthodontics generally poses a challenge and a missing premaxilla adds to the difficulty in managing them. The lack of bone support and anterior teeth in a case with missing premaxilla accounts not only for difficulty in rehabilitation but also in increasing the maxillary hypoplasia. This article presents a case report where planned orthodontic and surgical management using distraction has helped treat a severe maxillary hypoplasia in a patient with missing premaxilla. The treatment plan and method can be used to treat severe maxillary hypoplasia and yield reasonably acceptable results for such patients.

  18. Left atrial volume index

    DEFF Research Database (Denmark)

    Poulsen, Mikael K; Dahl, Jordi S; Henriksen, Jan Erik;

    2013-01-01

    To determine the prognostic importance of left atrial (LA) dilatation in patients with type 2 diabetes (T2DM) and no history of cardiovascular disease.......To determine the prognostic importance of left atrial (LA) dilatation in patients with type 2 diabetes (T2DM) and no history of cardiovascular disease....

  19. 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.

  20. Prevalence of dental anomalies and enamel hypoplasia in primary dentition among preschool children of West Godavari District, Andhra Pradesh -A cross - sectional study

    Directory of Open Access Journals (Sweden)

    Suzan Sahana

    2013-01-01

    Full Text Available Background: It is axiomatic that Pediatric dental anomalies and enamel hypoplasia (E.H are routinely encountered in primary dentition and early detection and prudent management of the condition facilitates normal occlusal development. Objectives: To determine the prevalence of various dental anomalies and enamel hypoplasia in preschool children between two to six years of age. Materials & Method: A total of 1898 children, between two to six years were randomly selected and screened for dental anomalies and enamel hypoplasia The chi square test was used to analyze the data statistically. Results: The overall prevalence rate of dental anomalies and enamel hypoplasia in this study was 0.63% and 8.95% respectively. Double teeth were the most frequently reported dental anomaly while supernumerary teeth were least reported. None of them reported with hypodontia.

  1. 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.

  2. 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

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

    OpenAIRE

    Bhushan B; Garg S; Sharma D.; Jain M

    2008-01-01

    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. Furt...

  4. CT volumetry of lumbar vertebral bodies in patients with hypoplasia L5 and bilateral spondylolysis and in normal controls

    Energy Technology Data Exchange (ETDEWEB)

    Wilms, Guido E.; Demaerel, Philippe; Keyzer, Frederik de [UZ Leuven, Campus Gasthuisberg, Department of Radiology, Leuven (Belgium); Willems, Endry [ZOL, Department of Radiology, Genk (Belgium)

    2012-08-15

    To examine the feasibility and results of calculating the volume of lumbar vertebral bodies in normal patients and patients with suspected hypoplasia of L5. Lumbar multi-detector CT was performed in 38 patients with bilateral spondylolysis and hypoplasia of L5 and in 38 normal patients. Lumbar vertebral body volume of L3, L4 and L5 was measured by CT volumetry with a semi-automated program, created with MeVisLab. In the control group, the average vertebral body volume (in cubic centimeters) of L3 was 35.93 ({+-}7.33), 36.34 ({+-}7.13) for L4 and 34.63 ({+-}6.88) for L5. In patients with suspected hypoplasia L5 the average body volume (in cubic centimeters) of L3 was 36.85 ({+-}7.37), 36.90 ({+-}6.99) for L4 and 33.14 ({+-}6.57) for L5. The difference in mean vertebral body volume for L3, L4 and L5 between both groups was statistically not significant. However, there was a statistically significant difference of the ratio L5/L4 (P < 0.001) between both groups: the mean ratio L5/L4 in the control group was 95.3 {+-} 3.9%, the ratio for the hypoplastic L5 group was 89.9 {+-} 6.3%. There was no significant difference in the vertebral body volume for L3, L4 and L5 between both groups due to inter-patient variability. However, the relation between the body volume of L5 and L4 is significantly different between both groups. The volume of the vertebral body of L5 proved to be on average 10.2% smaller than the volume of L4 in the group with hypoplasia L5 versus 4.7% in the control group. (orig.)

  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. RARE ASSOCIATION OF POSTERIOR EMBRYOTOXON WITH MAXILLARY HYPOPLASIA, VENTRICULAR SEPTAL DEFECT, PULMONARY ATRESIA AND PATENT DUCTUS ARTERIOSUS

    Directory of Open Access Journals (Sweden)

    Pandey

    2014-12-01

    Full Text Available BACKGROUND: Posterior embryotoxon is a congenital anomaly, considered to be a relatively mild disorder and can occur in 15% of normal eyes. Bilateral posterior embryotoxon associated with maxillary hypoplasia, Ventricular Septal Defect (VSD, Pulmonary Atresia (PA with Patent Ductus Arteriosus (PDA is of rare occurrence and hasn’t been reported in literature till date. CASE: We report a case of 12 year old female who came to us in eye Out Patient Department for routine eye checkup and on detailed ocular examination we found anteriorly displaced Schwalbe’s line. On detailed physical examination and investigations she was found to have pan-systolic murmur and continuous machinery murmur. On Echocardiography, the patient was found to have large peri-membranous VSD with PA and PDA. On Oro-dental examination she was found to have maxillary hypoplasia. CONCLUSION: The present case is reported due to the rarity and sporadic character of the condition and its rare association with cardiac defect and maxillary hypoplasia.

  7. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

    Science.gov (United States)

    Shafeghati, Yousef; Kahrizi, Kimia; Najmabadi, Hossein; Kuss, Andreas Walter; Ropers, Hans-Hilger; Tzschach, Andreas

    2010-12-01

    Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects.

  8. Vertebral Artery Hypoplasia and Posterior Circulation Infarction in Patients with Isolated Vertigo with Stroke Risk Factors.

    Science.gov (United States)

    Zhang, Dao Pei; Lu, Gui Feng; Zhang, Jie Wen; Zhang, Shu Ling; Ma, Qian Kun; Yin, Suo

    2017-02-01

    We aimed in this study to investigate the prevalence of vertebral artery hypoplasia (VAH) in a population with isolated vertigo in association with stroke risk factors, to determine whether VAH is an independent risk factor for posterior circulation infarction (PCI). We sequentially enrolled 245 patients with isolated vertigo with at least 1 vascular risk factor, who were divided into PCI and non-PCI groups, according to present signs of acute infarction on diffusion-weighted magnetic resonance imaging. All patients underwent magnetic resonance angiography and cervical contrast-enhanced magnetic resonance angiography to screen for VAH. Univariate and multivariate logistic regression analyses were performed to identify the significant risk factors for PCI. VAH was found in 64 of 245 patients (26%). VAH (odds ratio [OR] = 2.70, 95%confidence interval [CI] 1.17-6.23, P = .020), median stenosis of the posterior circulation (OR = 7.09, 95%CI = 2.54-19.79, P vertigo with PCI complicated by VAH was mainly small-artery occlusion. Our findings suggest that VAH is an independent risk factor for PCI in patients with isolated vertigo with confirmed risk from stroke. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  9. Applying standard perikymata profiles to Pongo pygmaeus canines to estimate perikymata counts between linear enamel hypoplasias.

    Science.gov (United States)

    O'Hara, Mackie

    2017-05-01

    Recently, studies have interpreted regular spacing and average number of perikymata between dental enamel defects in orangutans to reflect seasonal episodes of physiological stress. To estimate the amount of time between developmental defects (enamel hypoplasia), studies have relied on perikymata counts. Unfortunately, perikymata are frequently not continuously visible between defects, significantly reducing data sets. A method is presented here for estimating the number of perikymata between defects using standard perikymata profiles (SPP) that allow the number of perikymata between all pairs of defects across a tooth to be analyzed. The SPP method should allow the entire complement of defects to be analyzed within the context of an individual's crown formation time. The average number of perikymata were established per decile and charted to create male and female Pongo pygmaeus SPPs. The position of the beginning of each defect was recorded for lower canines from males (n = 6) and females (n = 17). The number of perikymata between defects estimated by the SPP was compared to the actual count (where perikymata were continuously visible). The number of perikymata between defects estimated by the SPPs was accurate within three perikymata and highly correlated with the actual counts, significantly increasing the number of analyzable defect pairs. SPPs allow all defect pairs to be included in studies of defect timing, not just those with continuously visible perikymata. Establishing an individual's entire complement of dental defects makes it possible to calculate the regularity (and potential seasonality) of defects. © 2017 Wiley Periodicals, Inc.

  10. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    Science.gov (United States)

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis.

  11. 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.

  12. 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.

  13. 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.

  14. Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Rocío F. Lopez-Porras

    2011-08-01

    Full Text Available Focal dermal hypoplasia (FDH is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th–6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia.

  15. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.

    Science.gov (United States)

    Nakashima, Eiji; Tran, Joseph R; Welting, Tim J M; Pruijn, Ger J M; Hirose, Yuichiro; Nishimura, Gen; Ohashi, Hirofumi; Schurman, Shepherd H; Cheng, Jun; Candotti, Fabio; Nagaraja, Ramaiah; Ikegawa, Shiro; Schlessinger, David

    2007-11-15

    Cartilage hair hypoplasia (CHH; MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. It is caused by mutations in RMRP gene, the RNA component of the ribonucleoprotein complex RNase MRP. Mutations in RMRP have been found in patients in the core promoter region or in the transcribed region, but the pathogenetic effect of the mutations is unclear. Real-time PCR assays confirmed that both promoter (c.-16_-1 dup and c.-15_+2 dup) and transcribed mutations (c.168G > A and c.218A > G) lower the expression level of RMRP. Experiments with 5'RACE, showed that the reduced transcription in the promoter mutants was accompanied by shifting of the transcription initiation sites to nucleotides 5'-upstream of the authentic site. Low levels of RMRP expression levels with transcript mutations were also seen when constructs encoding the wild-type and mutant genes were transfected into cultured cells. The reduced transcription was correlated with greater instability of mutant RMRP transcripts compared to controls. A comparable reduction was seen when a mouse gene containing the c.70A > G mutation (the major mutation in humans with CHH) was introduced into ES cells in place of one of the wild-type alleles. The low expression level of the c.70A > G Rmrp RNA was confirmed by expression assays into cultured cells, and was again correlated with RNA instability. Our results indicate that a loss of mutant RNA transcripts is a critical feature of pathogenesis. (c) 2007 Wiley-Liss, Inc.

  16. 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.

  17. Left heart catheterization

    Science.gov (United States)

    Catheterization - left heart ... to help guide the catheters up into your heart and arteries. Dye will be injected into your ... in the blood vessels that lead to your heart. The catheter is then moved through the aortic ...

  18. Left Ventricular Hypertrophy

    Science.gov (United States)

    ... the chamber itself also increases. The enlarged heart muscle loses elasticity and eventually may fail to pump with as much force as needed. Left ventricular hypertrophy is more common in people who have uncontrolled ...

  19. Left-Handed Connections.

    Science.gov (United States)

    Lipson, Alice M.

    1984-01-01

    The following aspects of left-handedness are discussed: etiology and associated learning and developmental disorders; right-brain dominance and how to detect it; adaptations to the physical learning environment; behavior patterns; and teaching techniques. (JW)

  20. VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen

    Energy Technology Data Exchange (ETDEWEB)

    Sbragia, L. [Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil, Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Nassr, A.C.C. [Departamento de Hidrobiologia do Centro de Ciências Biológicas e da Saúde, Universidade Federal de São Carlos, São Carlos, SP, Brasil, Departamento de Hidrobiologia do Centro de Ciências Biológicas e da Saúde, Universidade Federal de São Carlos, São Carlos, SP (Brazil); Gonçalves, F.L.L. [Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil, Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Schmidt, A.F. [Pediatrics House Office, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH, USA, Pediatrics House Office, Cincinnati Children' s Hospital Medical Center, Cincinnati, OH (United States); Zuliani, C.C. [Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil, Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP (Brazil); Garcia, P.V. [Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP, Brasil, Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP (Brazil); Gallindo, R.M. [Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil, Divisão de Cirurgia Pediátrica, Departamento de Cirurgia e Anatomia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP (Brazil); Pereira, L.A.V. [Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP, Brasil, Departamento de Histologia e Embriologia, Instituto de Biologia, Universidade Estadual de Campinas, UNICAMP, Campinas, SP (Brazil)

    2014-02-17

    Changes in vascular endothelial growth factor (VEGF) in pulmonary vessels have been described in congenital diaphragmatic hernia (CDH) and may contribute to the development of pulmonary hypoplasia and hypertension; however, how the expression of VEGF receptors changes during fetal lung development in CDH is not understood. The aim of this study was to compare morphological evolution with expression of VEGF receptors, VEGFR1 (Flt-1) and VEGFR2 (Flk-1), in pseudoglandular, canalicular, and saccular stages of lung development in normal rat fetuses and in fetuses with CDH. Pregnant rats were divided into four groups (n=20 fetuses each) of four different gestational days (GD) 18.5, 19.5, 20.5, 21.5: external control (EC), exposed to olive oil (OO), exposed to 100 mg nitrofen, by gavage, without CDH (N-), and exposed to nitrofen with CDH (CDH) on GD 9.5 (term=22 days). The morphological variables studied were: body weight (BW), total lung weight (TLW), left lung weight, TLW/BW ratio, total lung volume, and left lung volume. The histometric variables studied were: left lung parenchymal area density and left lung parenchymal volume. VEGFR1 and VEGFR2 expression were determined by Western blotting. The data were analyzed using analysis of variance with the Tukey-Kramer post hoc test. CDH frequency was 37% (80/216). All the morphological and histometric variables were reduced in the N- and CDH groups compared with the controls, and reductions were more pronounced in the CDH group (P<0.05) and more evident on GD 20.5 and GD 21.5. Similar results were observed for VEGFR1 and VEGFR2 expression. We conclude that N- and CDH fetuses showed primary pulmonary hypoplasia, with a decrease in VEGFR1 and VEGFR2 expression.

  1. CTA Showed Bilateral Internal Carotid Artery Hypoplasia in 1 Cases%CTA示两侧颈内动脉发育不全1例

    Institute of Scientific and Technical Information of China (English)

    丁玉国

    2015-01-01

    两侧颈内动脉缺损还是很少见,是一种非常罕见的畸形,在临床上多以蛛网膜下腔出血或体检发现动脉瘤后发现本病。我们发现这例两侧颈内动脉发育不全合并有动脉瘤,动脉瘤发生多由血流动力学发生改变后引起,正好本例表现为左侧后交通比较发达,血运大所致。脑血管CTA作为一种无创的检查方式,而且对本病可以很好的明确诊断,可作为两侧颈内动脉缺损的首选检查方法。%On both sides of the internal carotid artery defect is rare, is a very rare deformity, clinical y in subarachnoid hemor hage or more medical examination found aneurysm after finding the disease. We found that this case on both sides of the internal carotid artery hypoplasia with aneurysm, aneurysm occurred caused by hemodynamic changes after more, just in this case is left after the traf ic is developed, blood supply caused by large. Cerebral CTA as a noninvasive examination way, and to a clear diagnosis, the disease can be very good can be used as the first choice for the internal carotid artery defect on both sides.

  2. Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.

    Science.gov (United States)

    Kurtulmuş, Seçil; Demirpençe, Savaş; Can Öztekin, Deniz; Koç, Altuğ; Tavlı, Vedide

    2014-03-01

    We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liver, left-sided stomach and vena cava interruption with azygos continuation. There was also an apical trabecular ventricular septal defect, aorta and pulmonary artery arising from the left ventricle, pulmonary artery hypoplasia, pulmonary valve stenosis and left atrial isomerism. The heart rate was 46/min, consistent with third-degree atrioventricular block. Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. The pregnancy was terminated in the 23rd gestational week based on the consensus of perinatology council. The autopsy examination confirmed the diagnosis of MKS, left atrial isomerism and heterotaxy syndrome. Although some cardiac defects have been reported previously in MKS fetuses, here we expand the cardiac spectrum of anomalies associated with MKS to include left atrial isomerism and heterotaxy syndrome.

  3. TU-F-17A-06: Motion Stability and Dosimetric Impact of Spirometer-Based DIBH-RT of Left-Sided Breast Cancer

    Energy Technology Data Exchange (ETDEWEB)

    McKenzie, E; Yang, W; Burnison, M; Mirhadi, A; Hakimian, B; Stephen, S; Robert, R; Yue, Y; Sandler, H; Fraass, B [Cedars-Sinai Medical Center, Los Angeles, CA (United States)

    2014-06-15

    Purpose: Patients undergoing radiotherapy (RT) for left-sided breast cancer have increased risk of coronary artery disease. Deep Inhalation Breath Hold assisted RT (DIBH-RT) is shown to increase the geometric separation of the target area and heart, reducing cardiac radiation dose. The purposes of this study are to use Cine MV portal images to determine the stability of spirometer-guided DIBH-RT and examine the dosimetric cardiopulmonary impact of this technique. Methods: Twenty consecutive patients with left-sided breast cancer were recruited to the IRB-approved study. Free-breathing (FB) and DIBH-CT's were acquired at simulation. Rigid registration of the FB-CT and DIBH-CT was performed using primarily breast tissue. Treatment plans were created for each FB-CT and DIBH-CT using identical paired tangent fields with field-in-field or electronic compensation techniques. Dosimetric evaluation included mean and maximum (Dmax) doses for the left anterior descending artery (LAD), mean heart dose, and left lung V20. Cine MV portal images were acquired for medial and lateral fields during treatment. Analysis of Cine images involved chest wall segmentation using an algorithm developed in-house. Intra- and inter-fractional chest wall motion were determined through affine registration to the first frame of each Cine. Results: Dose to each cardiac structure evaluated was significantly (p<0.001) reduced with the DIBH plans. Mean heart dose decreased from 2.9(0.9–6.6) to 1.6(0.6–5.3) Gy; mean LAD dose from 16.6(3–43.6) to 7.4(1.7–32.7) Gy; and LAD Dmax from 35.4 (6.1–53) to 18.4(2.5–51.2) Gy. No statistically significant reduction was found for the left lung V20. Average AP and SI median chest wall motion (intrafractional) was 0.1 (SD=0.9) and 0.5 (SD=1.1) mm, respectively. Average AP inter-fractional chest wall motion was 2.0 (SD=1.4) mm. Conclusion: Spirometer-based DIBH treatments of the left breast are reproducible both inter- and intra-fractionally, and

  4. Hypoplastic left heart syndrome (image)

    Science.gov (United States)

    Hypoplastic left heart syndrome is a congenital heart condition that occurs during the development of the heart in the ... womb. During the heart's development, parts of the left side of the heart (mitral valve, left ventricle ...

  5. Artificial Left Ventricle

    CERN Document Server

    Ranjbar, Saeed; Meybodi, Mahmood Emami

    2014-01-01

    This Artificial left ventricle is based on a simple conic assumption shape for left ventricle where its motion is made by attached compressed elastic tubes to its walls which are regarded to electrical points at each nodal .This compressed tubes are playing the role of myofibers in the myocardium of the left ventricle. These elastic tubes have helical shapes and are transacting on these helical bands dynamically. At this invention we give an algorithm of this artificial left ventricle construction that of course the effect of the blood flow in LV is observed with making beneficiary used of sensors to obtain this effecting, something like to lifegates problem. The main problem is to evaluate powers that are interacted between elastic body (left ventricle) and fluid (blood). The main goal of this invention is to show that artificial heart is not just a pump, but mechanical modeling of LV wall and its interaction with blood in it (blood movement modeling) can introduce an artificial heart closed to natural heart...

  6. Association between enamel hypoplasia and dental caries in primary second molars and permanent first molars: A 3-year follow-up study

    Directory of Open Access Journals (Sweden)

    Sakeenabi Basha

    2016-01-01

    Full Text Available Context: Enamel hypoplasia is a defect caused by disturbances during enamel formation. These defects in the enamel present important clinical significance as they predispose a tooth to dental caries. Aim: The aim of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars and permanent first molars. Materials and Methods: The study sample consisted of 765 subjects who underwent dental examinations at both ages 6 and 9 by the calibrated examiner. Primary second molars and permanent first molars were scored for the presence of enamel hypoplasia for each participant. Caries presence and number of decayed and filled surfaces (dfs and DFS were determined at ages 6 and 9. The relationships between enamel hypoplasia and caries experience were assessed using multivariable regression models. Results: At the tooth level, 2.8% and 3.5% of children had hypoplasia on primary second molars and permanent first molars respectively. Multivariable logistic regression analyses showed that children with enamel hypoplasia were at a significantly higher risk of caries at both ages 6 (odds ratio, OR = 5.27 for primary second molars and OR = 3.21 for permanent first molars and age 9 (OR = 3.45 for primary second molars and OR = 4.57 for permanent first molars, and that a statistically significant association was seen with caries incidence (OR = 2.08 for primary second molars and OR = 2.87 for permanent first molars. Conclusion: Enamel hypoplasia appears to be a significant risk factor for caries in both primary second molars and permanent first molars and should be considered in caries risk assessment.

  7. 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.

  8. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

    Science.gov (United States)

    Gisseman, Jordan D; Herce, Honey H

    2016-03-01

    Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non-consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi-subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus, and strabismus. A complete ophthalmologic exam was done on all the patients. The mean patient age was 12.8 years (1-55 years). Eighty-nine percent were female and 77% (14/18) of patients had some form of an ophthalmologic manifestation of the condition. Ophthalmological findings included chorioretinal colobomas (61%), iris colobomas (50%), microphthalmia (44%), anophthalmia (11%), cataracts (11%), and conjunctival and eyelid papillomas (5%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to no light perception. This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series reported in the literature with 18 patients.

  9. PERSISTENT LEFT SUPERIOR VENACAVA

    Directory of Open Access Journals (Sweden)

    Devinder Singh

    2014-05-01

    Full Text Available A Persistent Left Superior Venacava (PLSVC is the most common variation of the thoracic venous system and rare congenital vascular anomaly and is prevalent in 0.3% of the population. It may be associated with other cardiovascular abnormalities including atrial septal defect, bicuspid aortic valve, coarctation of aorta, coronary sinus ostial atresia, and cor triatriatum. Incidental rotation of a dilated coronary sinus on echocardiography should raise the suspicion of PLSVC. The diagnosis should be confirmed by saline contrast echocardiography. Condition is usually asymptomatic. Here we present a rare case of persistent left superior vena cava presented in OPD with dyspnoea & palpitations.

  10. Postoperative radiotherapy following mastectomy for patients with left-sided breast cancer: A comparative dosimetric study

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Jiahao, E-mail: mashenglin@medmail.com.cn [Department of Radiation Oncology, Hangzhou Cancer Hospital, Hangzhou (China); Li, Xiadong; Deng, Qinghua [Department of Radiation Oncology, Hangzhou First People' s Hospital, Hangzhou (China); Xia, Bing; Wu, Shixiu [Department of Radiation Oncology, Hangzhou Cancer Hospital, Hangzhou (China); Liu, Jian [Department of Breast Surgery, Hangzhou First People' s Hospital, Hangzhou (China); Ma, Shenglin [Department of Radiation Oncology, Hangzhou First People' s Hospital, Hangzhou (China)

    2015-10-01

    The purposes of this article were to compare the biophysical dosimetry for postmastectomy left-sided breast cancer using 4 different radiotherapy (RT) techniques. In total, 30 patients with left-sided breast cancer were randomly selected for this treatment planning study. They were planned using 4 RT techniques, including the following: (1) 3-dimensional conventional tangential fields (TFs), (2) tangential intensity-modulated therapy (T-IMRT), (3) 4 fields IMRT (4F-IMRT), and (4) single arc volumetric-modulated arc therapy (S-VMAT). The planning target volume (PTV) dose was prescribed 50 Gy, the comparison of target dose distribution, conformity index, homogeneity index, dose to organs at risk (OARs), tumor control probability (TCP), normal tissue complication probability (NTCP), and number of monitor units (MUs) between 4 plans were investigated for their biophysical dosimetric difference. The target conformity and homogeneity of S-VMAT were better than the other 3 kinds of plans, but increased the volume of OARs receiving low dose (V{sub 5}). TCP of PTV and NTCP of the left lung showed no statistically significant difference in 4 plans. 4F-IMRT plan was superior in terms of target coverage and protection of OARs and demonstrated significant advantages in decreasing the NTCP of heart by 0.07, 0.03, and 0.05 compared with TFs, T-IMRT, and S-VMAT plan. Compared with other 3 plans, TFs reduced the average number of MUs. Of the 4 techniques studied, this analysis supports 4F-IMRT as the most appropriate balance of target coverage and normal tissue sparing.

  11. Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Abolmaali, Nasreddin; Koch, Arne [Dresden University of Technology, OncoRay - Molecular and Biological Imaging, Medical Faculty Carl Gustav Carus, Dresden (Germany); Goetzelt, Knut; Vogelberg, Christian [University Clinics Carl Gustav Carus, Dresden University of Technology, Clinic and Policlinic for Pediatrics - Pediatric Pulmonology, Dresden (Germany); Hahn, Gabriele [University Clinics Carl Gustav Carus, Dresden University of Technology, Institute and Policlinic for Radiology - Pediatric Radiology, Dresden (Germany); Fitze, Guido [University Clinics Carl Gustav Carus, Dresden University of Technology, Clinic and Policlinic for Pediatric Surgery, Dresden (Germany)

    2010-07-15

    To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls. Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size. While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced. Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment. (orig.)

  12. Left atrial appendage occlusion

    Directory of Open Access Journals (Sweden)

    Ahmad Mirdamadi

    2013-01-01

    Full Text Available Left atrial appendage (LAA occlusion is a treatment strategy to prevent blood clot formation in atrial appendage. Although, LAA occlusion usually was done by catheter-based techniques, especially percutaneous trans-luminal mitral commissurotomy (PTMC, it can be done during closed and open mitral valve commissurotomy (CMVC, OMVC and mitral valve replacement (MVR too. Nowadays, PTMC is performed as an optimal management of severe mitral stenosis (MS and many patients currently are treated by PTMC instead of previous surgical methods. One of the most important contraindications of PTMC is presence of clot in LAA. So, each patient who suffers of severe MS is evaluated by Trans-Esophageal Echocardiogram to rule out thrombus in LAA before PTMC. At open heart surgery, replacement of the mitral valve was performed for 49-year-old woman. Also, left atrial appendage occlusion was done during surgery. Immediately after surgery, echocardiography demonstrates an echo imitated the presence of a thrombus in left atrial appendage area, although there was not any evidence of thrombus in pre-pump TEE. We can conclude from this case report that when we suspect of thrombus of left atrial, we should obtain exact history of previous surgery of mitral valve to avoid misdiagnosis clotted LAA, instead of obliterated LAA. Consequently, it can prevent additional evaluations and treatments such as oral anticoagulation and exclusion or postponing surgeries including PTMC.

  13. Left or Right

    Institute of Scientific and Technical Information of China (English)

    常厚飞

    2007-01-01

    In Europe people hold the fork in the left hand and the knife in the right throughout the meal, a system that is generally agreed to be more efficient than the American zigzag method. Americans hold both the fork and the knife in their right hands throughout the meal,

  14. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  15. 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.

  16. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome

    Directory of Open Access Journals (Sweden)

    Tint G Stephen

    2004-02-01

    Full Text Available Abstract Background Normal post-squalene cholesterol biosynthesis is important for mammalian embryonic development. Neonatal mice lacking functional dehydrocholesterol Δ7-reductase (Dhcr7, a model for the human disease of Smith-Lemli-Opitz syndrome, die within 24 hours of birth. Although they have a number of biochemical and structural abnormalities, one cause of death is from apparent respiratory failure due to developmental pulmonary abnormalities. Results In this study, we characterized further the role of cholesterol deficiency in lung development of these mice. Significant growth retardation, beginning at E14.5~E16.5, was observed in Dhcr7-/- embryos. Normal lobation but smaller lungs with a significant decrease in lung-to-body weight ratio was noted in Dhcr7-/- embryos, compared to controls. Lung branching morphogenesis was comparable between Dhcr7-/- and controls at early stages, but delayed saccular development was visible in all Dhcr7-/- embryos from E17.5 onwards. Impaired pre-alveolar development of varying severity, inhibited cell proliferation, delayed differentiation of type I alveolar epithelial cells (AECs and delayed vascular development were all evident in knockout lungs. Differentiation of type II AECs was apparently normal as judged by surfactant protein (SP mRNAs and SP-C immunostaining. A significant amount of cholesterol was detectable in knockout lungs, implicating some maternal transfer of cholesterol. No significant differences of the spatial-temporal localization of sonic hedgehog (Shh or its downstream targets by immunohistochemistry were detected between knockout and wild-type lungs and Shh autoprocessing occurred normally in tissues from Dhcr7-/- embryos. Conclusion Our data indicated that cholesterol deficiency caused by Dhcr7 null was associated with a distinct lung saccular hypoplasia, characterized by failure to terminally differentiate alveolar sacs, a delayed differentiation of type I AECs and an immature

  17. 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.

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

    Institute of Scientific and Technical Information of China (English)

    Mohammad-Esmaiil Hassani; Hamid Karimi; Hosein Hassani; Ali Hassani

    2014-01-01

    Objective:To determine the results ofBilateralDistractionOsteogenesis(DO) versus traditional methods in treatment of micrognathia.Methods:During6 years we had67 patients with micrognathia.In groupA, randomly35 were treated with traditional methods(Saggital osteotomy and/or bone grafts) and groupB32 cases were treated withBilateralExternalDistraction Osteogenesis.Follow up was36+/-6 months.X-Ray ,CT scan and cast modelling were done for all of the patients.SNA,SNB angles were measured in cephalograms.The patients were examined after one, two, three, six,12 months for any complications and signs of bone resorption and relapse.Bony and soft tissue advancements were measured and compared with each other. Results:During6 years we had67 patients with classII malocclusion.MeanSNA angle in group A was80.8(80-81.5) and80.9(80-82) in groupB.MeanSNB angle in groupA was77.6(76.5-78) and77.4(76.5-78.5).After treatment meanSNB in groupA was79.1 and the difference was significant comparing to pre-op measurement(P<0.005).MeanSNB in groupB after treatment was 79.2 which was significantly different comparing withSNB angle before surgery.The meanSNA in both group were not statistically and significantly different.The meanSNB after surgery in both group were not statistically and significantly different.MeanMandibular advancement in groupA was11.9 mm(7.5-18 mm) and groupB withDO treatment was12.1 mm(8-19 mm) which was not significantly different .The patient in groupA evaluate the surgical results as excellent(60%) and good(28.5%).The patient in groupB evaluate the results as excellent(78.1%) and good(15.6%). Conclusion:TheBilateralDistractionOseogenesis 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 ofMandible and the results are comparable with older methods.

  19. Bilateral iliac vein thrombosis after seat belt-related trauma revealing hypoplasia of the inferior vena cava--a case report.

    Science.gov (United States)

    Granel, Brigitte; Serratrice, Jacques; Bartoli, Jean Michel; Disdier, Patrick; Piquet, Philippe; Weiller, Pierre-Jean

    2002-01-01

    Hypoplasia of the inferior vena cava can be revealed by a deep venous thrombosis of the lower limbs. Associated precipitating factors or clotting defects leading to thrombosis are frequently observed. A case of bilateral iliac veins thrombosis occurring after a motor vehicle accident with seat belt injury is reported, revealing hypoplasia of the inferior vena cava. This young man was totally asymptomatic up to the crash, and did not have coagulation abnormalities. The patient had a very good outcome after anticoagulant treatment with complete regression of venous thromboses. Hypoplasia of the inferior vena cava was a predisposing anatomic abnormality that led to thrombosis, but seat belt trauma was probably the precipitating factor. This observation should be kept in mind in the evaluation of a deep venous lower limb thrombosis.

  20. Left musculus sternalis.

    Science.gov (United States)

    Arráez-Aybar, L A; Sobrado-Perez, J; Merida-Velasco, J R

    2003-07-01

    During routine dissection in the Morphological Sciences Department II of the Universidad Complutense de Madrid, the presence of a sternalis muscle was observed in the left hemithorax of a 70-year-old male cadaver. We report on its position, relationships, and innervation, as well as its clinical relevance, indicating some guidelines for its physical examination. We also present a brief overview of the existing literature regarding the nomenclature, historical reports, and incidence of this muscle.

  1. 椎动脉发育不良与后循环缺血性卒中%Vertebral artery hypoplasia and posterior circulation ischemic stroke

    Institute of Scientific and Technical Information of China (English)

    孙增强; 刘明玲; 田兵; 徐蔚海

    2014-01-01

    Vertebral artery hypoplasia is a frequent variation type of vertebral arteries.At present,there is no unified theory about the relationship between vertebral artery hypoplasia and posterior circulation ischemic stroke.The available evidence suggests that vertebral artery hypoplasia may be a precipitating factor for posterior circulation ischemic stroke; particularly other vascular risk factors coexist.This article elaborates the epidemiology of vertebral artery hypoplasia,the clinical manifestation and imaging features of vertebral artery hypoplasia in patients with posterior circulation ischemic stroke,and the possible mechanism of vertebral artery hypoplasia caused posterior circulation ischemic stroke.%椎动脉发育不良是椎动脉的一种常见变异类型.关于椎动脉发育不良与后循环缺血性卒中的关系,目前尚无统一定论.现有的证据提示,椎动脉发育不良可能是后循环缺血性卒中的促发因素,尤其是在并存其他血管危险因素的情况下.文章阐述了椎动脉发育不良的流行病学、椎动脉发育不良患者后循环缺血性卒中的临床表现和影像学特点以及椎动脉发育不良引起后循环缺血性卒中的可能机制.

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

    Directory of Open Access Journals (Sweden)

    Shreya Hegde

    2014-01-01

    Full Text Available 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.

  3. Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

    Science.gov (United States)

    Garavelli, Livia; Gargano, Giancarlo; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Melli, Nives; Braibanti, Silvia; Gelmini, Chiara; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, Elena; Toutain, Annick; Superti-Furga, Andrea; Neri, Giovanni

    2012-09-01

    The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.

  4. Feasibility and safety of biventricular repair in neonates with hypoplastic left heart complex.

    Science.gov (United States)

    Bergonzini, S; Mendoza, A; Paz, M A; Garcia, E; Aguilar, J M; Arlati, F G; Galletti, L; Comas, J V

    2015-02-01

    Hypoplastic left heart syndrome is a spectrum of structural cardiac malformations characterized by variable underdevelopment of the left heart-aorta complex. A minority of patients having a milder degree of left ventricular hypoplasia, described as hypoplastic left heart complex (HLHC), may be selected for biventricular repair. The objective of this study was to assess the outcome of the biventricular approach in HLHC. We evaluated retrospectively 30 neonates diagnosed with HLHC from the "12 de Octubre" University Hospital, following established criteria. We analyzed the echocardiographic data recorded just after birth and at last follow-up after surgery. All patients were operated on in the neonatal period using various surgical techniques. There were no early deaths and only 1 late death after a mean follow-up of 62.9 ± 43.8 months. All patients presented a significant growth of the left ventricular structures, with a Z-score increase of 1.17 ± 1.05 for mitral annulus, 1.72 ± 1.23 for aortic annulus, and 1.33 ± 1.46 for left ventricular end-diastolic diameter. Postoperatively, 18 patients showed a left valvular stenosis, and 17 patients underwent a reoperation and/or an interventional procedure. Freedom from surgery or interventional catheterizations at 1, 3 and 5 years was 53, 49 and 43%, respectively. The 29 current survivors are all in a good functional status. In our experience, we achieved good results from biventricular repair in patients with HLHC, with a significant growth of left heart structures and an excellent clinical status at a medium-term follow-up. Nevertheless, there was a high rate of reoperations and/or interventional catheterizations.

  5. Contralateral breast doses depending on treatment set-up positions for left-sided breast tangential irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Joo, Chan Seong; Park, Su Yeon; Kim, Jong Sik; Choi, Byeong Gi; Chung, Yoon Sun; Park, Won [Dept. of Radiation Oncology, Samsung Seoul Hospital, Seoul (Korea, Republic of)

    2015-12-15

    To evaluate Contralateral Breast Doses with Supine and Prone Positions for tangential Irradiation techniques for left-sided breast Cancer We performed measurements for contralateral doses using Human Phantom at each other three plans (conventional technique, Field-in-Field, IMRT, with prescription of 50 Gy/25fx). For the measurement of contralateral doses we used Glass dosimeters on the 4 points of Human Phantom surface (0 mm, 10 mm, 30 mm, 50 mm). For the position check at every measurements, we had taken portal images using EPID and denoted the incident points on the human phantom for checking the constancy of incident points. The contralateral doses in supine position showed a little higher doses than those in prone position. In the planning study, contralateral doses in the prone position increased mean doses of 1.2% to 1.8% at each positions while those in the supine positions showed mean dose decreases of 0.8% to 0.9%. The measurements using glass dosimeters resulted in dose increases (mean: 2.7%, maximum: 4% of the prescribed dose) in the prone position. In addition, the delivery techniques of Field-in-field and IMRT showed mean doses of 3% higher than conventional technique. We evaluated contralateral breast doses depending on different positions of supine and prone for tangential irradiations. For the phantom simulation of set-up variation effects on contralateral dose evaluation, although we used humanoid phantom for planning and measurements comparisons, it would be more or less worse set-up constancy in a real patient. Therefore, more careful selection of determination of patient set-up for the breast tangential irradiation, especially in the left-sided breast, should be considered for unwanted dose increases to left lung and heart. In conclusion, intensive patient monitoring and improved patient set-up verification efforts should be necessary for the application of prone position for tangential irradiation of left-sided breast cancer.

  6. SU-E-P-56: Dosimetric Comparison of Three Post Modified Radical Mastectomy Radiotherapy Techniques for Locally Advanced Left-Sided Breast Cancer and Beyond

    Energy Technology Data Exchange (ETDEWEB)

    Ma, C; Zhang, W; Lu, J; Wu, L; Wu, F; Huang, B; Li, D [Cancer Hospital of Shantou University Medical College, Shantou, Guangdong (China)

    2015-06-15

    Purpose: To compare the dosimetry of post modified radical mastectomy radiotherapy (PMRMRT) for left-sided breast cancer using 3-dimensional conformal radiotherapy (3DCRT), intensity-modulated radiation therapy (IMRT) and volumetric modulated arc therapy (VMAT). Methods: We created ten sets of PMRMRT plans for ten consecutive patients and utilized two tangential and one or two supraclavicular beams in 3DCRT, a total of 5 beams in IMRT and two optimized partial arcs in VMAT. The difference in results between any two of the three new plans, between new and previous 3DCRT plans were compared and analyzed by ANOVA (α =0.05) and paired-sample t-test respectively. P values less than 0.05 were considered statistically significant. Results: Both IMRT and VMAT plans had similar PTV coverage, hotspot area and conformity (all p>0.05), and significantly higher PTV coverage compared with new 3DCRT (both p<0.001). IMRT plans had significantly less heart and left lung radiation exposure compared with VMAT (all p<0.05). The 3DCRT plans with larger estimated CTV displacement had better target coverage but worse OARs sparing compared to those with smaller one. Conclusion: IMRT has dosimetrical advantages over the other two techniques in PMRMRT for left-sided breast cancer. Individually quantifying and minimizing CTV displacement can significantly improve dosage distribution. This work was supported by the Medical Scientific Research Foundation of Guangdong Procvince (A2014455 to Changchun Ma)

  7. Neutrosophic Left Almost Semigroup

    Directory of Open Access Journals (Sweden)

    Mumtaz Ali

    2014-06-01

    Full Text Available In this paper we extend the theory of neutrosophy to study left almost semigroup shortly LAsemigroup. We generalize the concepts of LA-semigroup to form that for neutrosophic LA-semigroup. We also extend the ideal theory of LA-semigroup to neutrosophy and discuss different kinds of neutrosophic ideals. We also find some new type of neutrosophic ideal which is related to the strong or pure part of neutrosophy. We have given many examples to illustrate the theory of neutrosophic LA-semigroup and display many properties of neutrosophic LA-semigroup in this paper.

  8. Use of Left Gastric Vein as an Alternative for Portal Flow Reconstruction in Liver Transplantation

    Science.gov (United States)

    Goldoni, Marcos Bertozzi; Kruse, Cristine; Diedrich, João Alfredo; Giacomazzi, Caroline Becker; Negri, Estéfano Aurélio; Koop, Matheus; Sampaio, José Artur; Fontes, Paulo Roberto Ott; Waechter, Fábio Luiz

    2016-01-01

    Portal vein thrombosis is observed in up to 10% of liver transplant candidates, hindering execution of the procedure. A dilated gastric vein is an alternative to portal vein reconstruction and decompression of splanchnic bed. We present two cases of patients with portal cavernoma and dilated left gastric vein draining splanchnic bed who underwent liver transplantation. The vein was dissected and sectioned near the cardia; the proximal segment was ligated with suture and the distal segment was anastomosed to the donor portal vein. Gastroportal anastomosis is an excellent option for portal reconstruction in the presence of thrombosis or hypoplasia. It allows an adequate splanchnic drainage and direction of hepatotrophic factors to the graft. PMID:27595034

  9. Primary Total Laparoscopic Sigmoid Vaginoplasty in Transgender Women with Penoscrotal Hypoplasia: A Prospective Cohort Study of Surgical Outcomes and Follow-Up of 42 Patients

    NARCIS (Netherlands)

    Bouman, M.B.; Sluis, W.B. van der; Buncamper, M.E.; Ozer, M.; Mullender, M.G.; Meijerink, W.J.H.J.

    2016-01-01

    BACKGROUND: In young transgender women previously treated with puberty-suppressing hormones, penoscrotal hypoplasia can make penoscrotal inversion vaginoplasty unfeasible. The aim of this study was to prospectively assess surgical outcomes and follow-up of total laparoscopic sigmoid vaginoplasty as

  10. 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

  11. Social Communication Difficulties and Autism Spectrum Disorder in Young Children with Optic Nerve Hypoplasia and/or Septo-Optic Dysplasia

    Science.gov (United States)

    Parr, Jeremy R.; Dale, Naomi J.; Shaffer, Lara M.; Salt, Alison T.

    2010-01-01

    Aim: The aim of this study was to study systematically social, communication, and repetitive/restrictive (SCRR) behavioural difficulties and clinical autism spectrum disorder (ASD) in children with optic nerve hypoplasia (ONH) and/or septo-optic dysplasia (SOD), and to investigate the relationship between visual impairment, SCRR difficulties, ASD,…

  12. Your left-handed brain

    OpenAIRE

    2014-01-01

    While most people prefer to use their right hand to brush their teeth, throw a ball, or hold a tennis racket, left-handers prefer to use their left hand. This is the case for around 10% of all people. There was a time (not so long ago) when left-handers were stigmatized (see Glossary) in Western (and other) communities: it was considered a bad sign if you were left-handed, and left-handed children were often forced to write with their right hand. This is nonsensical: there is nothing wrong wi...

  13. Left Artinian Algebraic Algebras

    Institute of Scientific and Technical Information of China (English)

    S. Akbari; M. Arian-Nejad

    2001-01-01

    Let R be a left artinian central F-algebra, T(R) = J(R) + [R, R],and U(R) the group of units of R. As one of our results, we show that, if R is algebraic and char F = 0, then the number of simple components of -R = R/J(R)is greater than or equal to dimF R/T(R). We show that, when char F = 0 or F is uncountable, R is algebraic over F if and only if [R, R] is algebraic over F. As another approach, we prove that R is algebraic over F if and only if the derived subgroup of U(R) is algebraic over F. Also, we present an elementary proof for a special case of an old question due to Jacobson.

  14. Left ventricular apical diseases.

    Science.gov (United States)

    Cisneros, Silvia; Duarte, Ricardo; Fernandez-Perez, Gabriel C; Castellon, Daniel; Calatayud, Julia; Lecumberri, Iñigo; Larrazabal, Eneritz; Ruiz, Berta Irene

    2011-08-01

    There are many disorders that may involve the left ventricular (LV) apex; however, they are sometimes difficult to differentiate. In this setting cardiac imaging methods can provide the clue to obtaining the diagnosis. The purpose of this review is to illustrate the spectrum of diseases that most frequently affect the apex of the LV including Tako-Tsubo cardiomyopathy, LV aneurysms and pseudoaneurysms, apical diverticula, apical ventricular remodelling, apical hypertrophic cardiomyopathy, LV non-compaction, arrhythmogenic right ventricular dysplasia with LV involvement and LV false tendons, with an emphasis on the diagnostic criteria and imaging features. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s13244-011-0091-6) contains supplementary material, which is available to authorized users.

  15. SU-E-T-79: A Study of the Effect of Clinical Tumor Volume Displacement On the Dosage of Post Modified Radical Mastectomy Intensity-Modulated Radiation Therapy Plans for Left-Sided Breast Cancer

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, W; Ma, C; Li, D; Wu, F [Cancer Hospital of Shantou University Medical College, Shantou, Guangdong (China)

    2015-06-15

    Purpose: To explore the effect of clinical tumor volume (CTV) displacement on the dosage of intensity-modulated radiation therapy (IMRT) plans for left-sided breast cancer after modified radical mastectomy. Methods: We created 2 sets of IMRT plans based on PTV0.5 and PTV0.7 (with CTV displacement of 0.5cm and 0.7cm respectively) for each of the ten consecutive left-sided breast cancer patients after modified radical mastectomy, and compared the difference in PTV coverage and organ at risk (OAR) sparing between the two groups. And then, we compared the difference in PTV coverage in IMRT plans based on PTV0.5 between the group with properly estimated CTV displacement (presuming the actual CTV displacement was 0.5cm) and the one with underestimated CTV displacement (presuming the actual CTV displacement was 0.7cm). The difference in results between the corresponding two groups was compared using paired-sample t-test. P values less than 0.05 were considered statistically significant. Results: IMRT plans derived from PTV0.5 had more homogenous PTV coverage, and less heart, left lung, right breast, right lung, left humeral head and B-P radiation exposure, as well as less total Mu as compared with the ones stemmed from PTV0.7 (all p<0.05). IMRT plans with appropriate estimation of CTV displacement had better PTV coverage compared with the ones with underestimated CTV displacement (all p<0.01). Conclusion: The IMRT plans with smaller CTV displacement in post modified radical mastectomy radiotherapy for left-sided breast cancer has dosimetrical advantages over the ones with larger CTV displacement. Underestimation of CTV displacement can lead to significant reduction of PTV coverage. Individually quantifying and minimizing CTV displacement can significantly improve PTV coverage and OAR (including heart and left lung) sparing. This work was supported by the Medical Scientific Research Foundation of Guangdong Procvince (A2014455 to Changchun Ma)

  16. 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

    2014-07-03

    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.

  17. Congenital ataxia and tremor with cerebellar hypoplasia in piglets borne by sows treated with Neguvon vet. (metrifonate, trichlorfon) during pregnancy.

    Science.gov (United States)

    Knox, B; Askaa, J; Basse, A; Bitsch, V; Eskildsen, M; Mandrup, M; Ottosen, H E; Overby, E; Pedersen, K B; Rasmussen, F

    1978-12-01

    In 1976--77 The State Veterinary Serum Laboratory received new-born pigs which had shown nervous disorders immediately after birth. In all the cases the sows had been treated with Nevugon vet. (metrifonate, trichlorfon) during pregnancy. In the majority of the affected litters the morbidity and lethality were 100 per cent. Analysis of the breeding data from some of the herds suggested that the period during which the fetuses are sensitive is rather narrow, i.e., approximately from day 45 to day 63. The disease was reproduced experimentally and it was concluded that oral treatment of pregnant sows with Neguvon vet. about the middle of the gestation period can result in severe nervous disorders in the piglets. Clinically the disease is characterized by ataxia and tremor, and corresponding to that there is a pronounced hypoplasia of the cerebellum and also a reduction in the size of the spinal cord.

  18. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

    Directory of Open Access Journals (Sweden)

    Rachna Rath

    2016-01-01

    Full Text Available Neurofibromatosis type 1 (NF1 is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO and extraosseous (EO neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG, three-dimensional computed tomography (3D CT and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

  19. 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.

  20. 胎儿肺发育不良的产前诊断%Prenatal diagnosis of fetal pulmonary hypoplasia

    Institute of Scientific and Technical Information of China (English)

    陈骊珠; 蔡爱露; 王冰; 杨泽宇

    2009-01-01

    肺发育不良可在胎儿出生后立即引发严重的呼吸窘迫,甚至造成新生儿死亡.本文就肺发育不良的发病原因、临床、超声影像学和病理学特点,对国内外近年产前诊断肺发育不良的各种方法进行综述.%Pulmonary hypoplasia (PH) may lead to severe respiratory distress immediately after birth,even neonatal death. The etiological factors, clinical, ultrasonic and pathologic characteristics of PH and the proposed methods for the prenatal diagnosis were reviewed in this article.

  1. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I.

    Science.gov (United States)

    Rath, Rachna; Kaur, Sheetal; Baig, Shadab Ali; Pati, Punyashlok; Sahoo, Sonalisa

    2016-01-01

    Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

  2. [Left-handedness and health].

    Science.gov (United States)

    Milenković, Sanja; Belojević, Goran; Kocijancić, Radojka

    2010-01-01

    Hand dominance is defined as a proneness to use one hand rather than another in performing the majority of activities and this is the most obvious example of cerebral lateralization and an exclusive human characteristic. Left-handed people comprise 6-14% of the total population, while in Serbia, this percentage is 5-10%, moving from undeveloped to developed environments, where a socio-cultural pressure is less present. There is no agreement between investigators who in fact may be considered a left-handed person, about the percentage of left-handers in the population and about the etiology of left-handedness. In the scientific literature left-handedness has been related to health disorders (spine deformities, immunological disorders, migraine, neurosis, depressive psychosis, schizophrenia, insomnia, homosexuality, diabetes mellitus, arterial hypertension, sleep apnea, enuresis nocturna and Down Syndrome), developmental disorders (autism, dislexia and sttutering) and traumatism. The most reliable scientific evidences have been published about the relationship between left-handedness and spinal deformities in school children in puberty and with traumatism in general population. The controversy of other results in up-to-now investigations of health aspects of left-handedness may partly be explained by a scientific disagreement whether writing with the left hand is a sufficient criterium for left-handedness, or is it necessary to investigate other parameters for laterality assessment. Explanation of health aspects of left-handedness is dominantly based on Geschwind-Galaburda model about "anomalous" cerebral domination, as a consequence of hormonal disbalance.

  3. Radionuclide detection and differential diagnosis of left-to-right cardiac shunts by analysis of time-activity curves

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok-Hwa

    1986-12-01

    The noninvasive nature of the radionuclide angiocardiography provided a useful approach for the evaluation of left-to-right cardiac shunts (LRCS). While the qualitative information can be obtained by inspection of serial radionuclide angiocardiograms, the quantitative information of radionuclide angiocardiography can be obtained by the analysis of time-activity curves using advanced computer system. The count ratios method and pulmonary-to-systemic flow ratio (QP/QS) by gamma variate fit method were used to evaluate the accuracy of detection and localization of LRCS. One hundred and ten time-activity curves were analyzed. There were 46 LRCS (atrial septal defects 11, ventricular septal defects 22, patent ductus arteriosus 13) and 64 normal subjects. By computer analysis of time-activity histograms of the right atrium, ventricle and the lungs separately, the count ratios modified by adding the mean cardiac transit time were calculated in each anatomic site. In normal subjects the mean count ratios in the right atrium, ventricle and lungs were 0.24 on average. In atrial septal defects, the count ratios were high in the right atrium, ventricle and lungs, whereas in ventricular septal defects the count ratios were higher only in the right ventricle and lungs. Patent ductus arteriosus showed normal count ratios in the heart but high count ratios were obtained in the lungs. Thus, this count ratios method could be separated normal from those with intracardiac or extracardiac shunts, and moreover, with this method the localization of the shunts level was possible in LRCS. Another method that could differentiate the intracardiac shunts from extracardiac shunts was measuring QP/QS in the left and right lungs. In patent ductus arteriosus, the left lung QP/QS was hight than those of the right lung, whereas in atrial septal defects and ventricular septal defects QP/QS ratios were equal in both lungs. (J.P.N.).

  4. Retroaortic left renal vein joining the left common iliac vein

    Energy Technology Data Exchange (ETDEWEB)

    Brancatelli, G.; Galia, M.; Finazzo, M.; Sparacia, G.; Pardo, S.; Lagalla, R. [Dept. of Radiology ' ' P. Cignolini' ' , Univ. of Palermo (Italy)

    2000-11-01

    Retroaortic left renal vein joining the left common iliac vein is a rare congenital anomaly in the development of the inferior vena cava. To our knowledge, only one case has been reported in the literature; however, its imaging features have never been described. A 27-year-old male presented with a 1-year history of recurrent right flank pain, dysuria, hematuria, and fever (39 C). Computed tomography and MR venography showed a retroaortic left renal vein joining the left common iliac vein. We present the CT and MR venography findings and discuss their feasibility in showing this congenital anomaly. (orig.)

  5. Neovascularization in Left Atrial Myxoma

    Science.gov (United States)

    Dubey, Laxman; Chaurasia, Amit Kumar

    2012-01-01

    Abstract We report a case with a left atrial mass who underwent coronary angiography to rule out coronary artery disease. Coronary angiography revealed an anomalous tortuous vascular structure originating from the left circumflex coronary artery to the left atrial tumor suggestive of neovascularization. Preoperative coronary angiography is useful for coronary artery evaluation and also provides additional information regarding the feeding vessel supplying the mass. PMID:24757609

  6. Left ventricle to left atrium shunt via a paravalvular abscess.

    Science.gov (United States)

    Gasparovic, H; Smalcelj, A; Brida, M

    2009-10-01

    Intracardiac fistulas are rare complications of infective endocarditis that contribute to the complexity of surgical management, and impose an additional hemodynamic burden on the already challenged heart. We report on a case of successful surgical management of a paravalvular communication between the left ventricle and the left atrium via an abscess cavity. Georg Thieme Verlag KG Stuttgart. New York.

  7. Principally Left Hereditary and Principally Left Strong Radicals

    Institute of Scientific and Technical Information of China (English)

    S. Tumurbat; R. Wiegandt

    2001-01-01

    A radical γ is normal if and only if γ is principally left hereditary and principally left strong (i.e., γ(L) = L e A and Lz ∈γ for all z ∈ L imply L γ(A)). Let a radical γ satisfy that A°∈γ and S° A° imply S°∈γ.Then γ is a hereditary normal radical if and only if γ is principally left strong and γ {A | (A, +,◇a) ∈γ a ∈ A}, where the multiplication ◇a is defined by x ◇a y = xay. The Behrens radical class B is the largest principally left hereditary subclass of the Brown-McCoy radical class G. Neither3 nor G is principally left strong.

  8. The Left-Handed Writer.

    Science.gov (United States)

    Bloodsworth, James Gaston

    Contrary to the beliefs of many, right-handedness is not a single factor existing in almost all people, with a few exceptions termed left-handed: neither extreme exists independently of the other. During the first 4 years of life there is a period of fluctuation between right and left-handed dominance. Statistics and findings vary in determining…

  9. Left-handedness and health

    Directory of Open Access Journals (Sweden)

    Milenković Sanja

    2010-01-01

    Full Text Available Hand dominance is defined as a proneness to use one hand rather than another in performing the majority of activities and this is the most obvious example of cerebral lateralization and an exclusive human characteristic. Left-handed people comprise 6-14% of the total population, while in Serbia, this percentage is 5-10%, moving from undeveloped to developed environments, where a socio-cultural pressure is less present. There is no agreement between investigators who in fact may be considered a left-handed person, about the percentage of left-handers in the population and about the etiology of left-handedness. In the scientific literature left-handedness has been related to health disorders (spine deformities, immunological disorders, migraine, neurosis, depressive psychosis, schizophrenia, insomnia, homosexuality, diabetes mellitus, arterial hypertension, sleep apnea, enuresis nocturna and Down Syndrome, developmental disorders (autism, dislexia and sttutering and traumatism. The most reliable scientific evidences have been published about the relationship between left-handedness and spinal deformities in school children in puberty and with traumatism in general population. The controversy of other results in up-to-now investigations of health aspects of left-handedness may partly be explained by a scientific disagreement whether writing with the left hand is a sufficient criterium for left-handedness, or is it necessary to investigate other parameters for laterality assessment. Explanation of health aspects of left-handedness is dominantly based on Geschwind-Galaburda model about 'anomalous' cerebral domination, as a consequence of hormonal disbalance. .

  10. Left ventricular wall stress compendium.

    Science.gov (United States)

    Zhong, L; Ghista, D N; Tan, R S

    2012-01-01

    Left ventricular (LV) wall stress has intrigued scientists and cardiologists since the time of Lame and Laplace in 1800s. The left ventricle is an intriguing organ structure, whose intrinsic design enables it to fill and contract. The development of wall stress is intriguing to cardiologists and biomedical engineers. The role of left ventricle wall stress in cardiac perfusion and pumping as well as in cardiac pathophysiology is a relatively unexplored phenomenon. But even for us to assess this role, we first need accurate determination of in vivo wall stress. However, at this point, 150 years after Lame estimated left ventricle wall stress using the elasticity theory, we are still in the exploratory stage of (i) developing left ventricle models that properly represent left ventricle anatomy and physiology and (ii) obtaining data on left ventricle dynamics. In this paper, we are responding to the need for a comprehensive survey of left ventricle wall stress models, their mechanics, stress computation and results. We have provided herein a compendium of major type of wall stress models: thin-wall models based on the Laplace law, thick-wall shell models, elasticity theory model, thick-wall large deformation models and finite element models. We have compared the mean stress values of these models as well as the variation of stress across the wall. All of the thin-wall and thick-wall shell models are based on idealised ellipsoidal and spherical geometries. However, the elasticity model's shape can vary through the cycle, to simulate the more ellipsoidal shape of the left ventricle in the systolic phase. The finite element models have more representative geometries, but are generally based on animal data, which limits their medical relevance. This paper can enable readers to obtain a comprehensive perspective of left ventricle wall stress models, of how to employ them to determine wall stresses, and be cognizant of the assumptions involved in the use of specific models.

  11. Nasomaxillary hypoplasia with a congenitally missing tooth treated with LeFort II osteotomy, autotransplantation, and nickel-titanium alloy wire.

    Science.gov (United States)

    Ishida, Takayoshi; Ikemoto, Shigehiro; Ono, Takashi

    2015-09-01

    In some skeletal Class III adult patients with nasomaxillary hypoplasia, the LeFort I osteotomy provides insufficient correction. This case report describes a 20-year-old woman with a combination of nasomaxillary hypoplasia and a protrusive mandible with a congenitally missing mandibular second premolar. We performed a LeFort II osteotomy for maxillary advancement. Autotransplantation of a tooth was also performed; the donor tooth was used to replace the missing permanent tooth. To increase the chance of success, we applied light continuous force with an improved superelastic nickel-titanium alloy wire technique before extraction and after transplantation. The patient's profile and malocclusion were corrected, and the autotransplanted tooth functioned well. The postero-occlusal relationships were improved, and ideal overbite and overjet relationships were achieved. The methods used in this case represent a remarkable treatment. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  12. Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

    Science.gov (United States)

    Biancheri, Roberta; Bruno, Claudio; Cassandrini, Denise; Bertini, Enrico; Santorelli, Filippo M; Rossi, Andrea

    2011-12-01

    Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar hypoplasia (PCH). In particular, when PCH is combined with severe supratentorial white matter involvement and cerebral atrophy, mutations in the mitochondrial arginyl-tRNA synthethase (RARS2) gene causing PCH6 are possible. We describe a patient with a lethal mitochondrial encephalomyopathy due to a mtDNA deletion and no alterations in RARS2, whose magnetic resonance (MR) findings mimicked PCH6. A thorough diagnostic work-up for mitochondrial disorders should be carried out when facing with a PCH-like and severe white matter and basal ganglia involvement on brain MR imaging in children, even if clinical and laboratory mitochondrial "stigmata" are scant or nonspecific.

  13. Radionuclide Angiocardiographic Evaluation of Left-to-Right Cardiac Shunts: Analysis of Time-Active Curves

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa; Bahk, Yong Whee; Kim, Chi Kyung [Catholic University College of Medicine, Seoul (Korea, Republic of)

    1987-09-15

    The noninvasive nature of the radionuclide angiocardiography provided a useful approach for the evaluation of left-to-right cardiac shunts (LRCS). While the qualitative information can be obtained by inspection of serial radionuclide angiocardiograms, the quantitative information of radionuclide angiocardiography can be obtained by the analysis of time-activity curves using advanced computer system. The count ratios method and pulmonary-to-systemic flow ratio (QP/QS) by gamma variate fit method were used to evaluate the accuracy of detection and localization of LRCS. One hundred and ten time-activity curves were analyzed. There were 46 LRCS (atrial septal defects 11, ventricular septal defects 22, patent ductus arteriosus 13) and 64 normal subjects. By computer analysis of time-activity curves of the right atriurn, ventricle and the lungs separately, the count ratios modified by adding the mean cardiac transit time were calculated in each anatomic site. In normal subjects the mean count ratios in the right atrium, ventricle and lungs were 0.24 on average. In atrial septal defects, the count ratios were high in the right atrium, ventricle and lungs, whereas in ventricular septal defects the count ratios were higher only in the right ventricle and lungs. Patent ductus arteriosus showed normal count ratios in the heart but high count ratios were obtained in the lungs. Thus, this count ratios method could be separated normal from those with intracardiac or extracardiac shunts, and moreover, with this method the localization of the shunt level was possible in LRCS. Another method that could differentiate the intracardiac shunts from extracardiac shunts was measuring QP/QS in the left and right lungs. In patent ductus arteriosus, the left lung QP/QS was higher than those of the right lung, whereas in atrial septal defects and ventricular septal defects QP/ QS ratios were equal in both lungs. From this study, it was found that by measuring QP/QS separately in the lungs

  14. Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Sasigarn A. Bowden

    2009-01-01

    Full Text Available We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis. We emphasized the importance of endocrinologic evaluation in patients with atypical slipped capital femoral epiphysis to prevent potential complication of adrenal crisis during surgery. This case also demonstrates growth without growth hormone which resulted in a delay in diagnosis of congenital hypopituitarism in this patient.

  15. Chronic Bilateral Slipped Capital Femoral Epiphysis as an Unusual Presentation of Congenital Panhypopituitarism due to Pituitary Hypoplasia in a 17-Year-Old Female

    Directory of Open Access Journals (Sweden)

    Klingele KevinE

    2009-11-01

    Full Text Available We report an interesting case of a 17-year-old normal-statured female who was diagnosed with congenital panhypopituitarism due to pituitary hypoplasia at the presentation of bilateral slipped capital femoral epiphysis. We emphasized the importance of endocrinologic evaluation in patients with atypical slipped capital femoral epiphysis to prevent potential complication of adrenal crisis during surgery. This case also demonstrates growth without growth hormone which resulted in a delay in diagnosis of congenital hypopituitarism in this patient.

  16. 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.

  17. Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

    Directory of Open Access Journals (Sweden)

    Swathi Sunil Rao

    2016-01-01

    Full Text Available Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

  18. A cervical myelopathy caused by invaginated anomaly of laminae of the axis in spina bifida occulta with hypoplasia of the atlas: case report.

    Science.gov (United States)

    Jiang, Yuquan; Xi, Yanhai; Ye, Xiaojian; Xu, Guohua; He, Hailong; Zhu, Yunrong

    2010-04-20

    A case report and review of previous literature are presented. The objective of this manuscript was to report a case of cervical myelopathy caused by invaginated anomalous laminae of the axis in a spina bifida occulta patient with hypoplasia of the arch of the atlas and to discuss the etiology of this disease. To the authors' knowledge, few cases of cervical myelopathy due to invaginated anomalous laminae of the axis have been reported, none of which is combined with hypoplasia of the arch of atlas. Treatment was surgical removal of the invaginated laminae. The patient's history, clinical examination, imaging findings, and treatment were reported, and the etiology was discussed. Characteristic findings were revealed from imaging studies and multiplane reconstruction of the computed tomography images. The patient was treated with a posterior decompressive operation based on the images. A rapid improvement was observed after the surgery, and the patient's neurology was completely restored 1 month later. We reported a rare characteristic anomaly of the laminae of the axis with hypoplasia of the posterior arch of atlas. A multiplane reconstruction of the computed tomography images was very necessary for treatment of this case. Possible causes of this anomaly may be the failure of ossification or fusion of the embryological term, whereas invagination of the osteophyte may be associated with the traction of the dense fibrous band during growth and development. Surgical removal of the laminae could result in a satisfactory outcome.

  19. Hipoplasia dérmica focal (Síndrome de Goltz: amplia variabilidad fenotípica Focal Dermal Hypoplasia (Goltz's Syndrome: Wide Phenotypic Variability

    Directory of Open Access Journals (Sweden)

    JC Acosta

    2009-12-01

    Full Text Available La hipoplasia dérmica focal (MIM# 305600, también llamada hipoplasia mesoectodérmica, es una rara entidad genética con un mecanismo de herencia dominante ligado al cromosoma X. Principalmente compromete piel, sistema esquelético, ojos y cara, con diferentes grados de severidad. Se describe dos casos clásicos e ilustrativos de hipoplasia dérmica focal, observando la amplia heterogeneidad fenotípica que estos pacientes pueden presentar. Hasta el momento es el segundo reporte en la literatura indexada de Colombia. Se realiza una amplia y actualizada revisión de la literatura.The focal dermal hypoplasia (MIM # 305600, also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

  20. Screening performance of different methods defining fetal nasal bone hypoplasia as a single and combined marker for the detection of trisomy 21 in the second trimester.

    Science.gov (United States)

    Papasozomenou, Panayiota; Athanasiadis, Apostolos P; Zafrakas, Menelaos; Panteris, Eleftherios; Mikos, Themistokles; Daniilidis, Angelos; Loufopoulos, Aristoteles; Assimakopoulos, Efstratios; Tarlatzis, Basil C

    2016-10-01

    To evaluate different methods of defining fetal nasal bone hypoplasia in the second trimester for the detection of trisomy 21. Prospective study in Greek women undergoing anomaly scan between 18 + 0 and 23 + 6 weeks. The following methods of defining nasal bone hypoplasia were evaluated, either as a single marker or in combination with others: (1) BPD to nasal bone length (NBL) ratio; (2) multiples of the median (MoM) of NBL, according to normal curves from a Greek population; (3-4) NBL < 2.5 percentile according to normal curves (3) commonly used internationally curves and (4) curves from a Greek population. In total, 1301 singleton fetuses were evaluated - 10 with trisomy 21. The best detection rate of trisomy 21 was achieved when the applied method was nasal bone percentiles adjusted to maternal ethnicity, in combination with other markers (<2.5 percentile according to normal curves from a Greek population; p < 0.001; sensitivity 50%; specificity 94.8%; false-positive rate 5.2%; positive likelihood ratio 9.6). Screening performance of fetal nasal bone hypoplasia in detecting trisomy 21 varies according to the method applied. The best screening performance is achieved by using percentiles adjusted to maternal ethnicity in combination with other markers of aneuploidy.

  1. 椎动脉发育不全及其临床意义%Vertebral artery hypoplasia and its clinical significance

    Institute of Scientific and Technical Information of China (English)

    杨双双; 季燕; 宋波; 许予明; 孙石磊

    2015-01-01

    椎动脉发育不全是一种先天性血管变异,其发生率为1.9%~26.5%。近几年的研究显示,椎动脉发育不全可能是后循环脑梗死的潜在危险因素,特别是当与其他脑血管危险因素并存时。椎动脉发育不全可能导致局部的血流低灌注和复杂的神经血管调节,而与偏头痛也存在一定的联系。%Vertebral artery hypoplasia is a congenital vessel variation. Its incidence is from 1. 9 to 26. 5% . In recent years, studies have shown that vertebral artery hypoplasia may be a potential risk factor for posterior circulation infarction, especialy when it coexists with other cerebrovascular risk factors. Vertebral artery hypoplasia may also cause regional hypoperfusion and complex neurovascular regulation, and it also has a certaln link with migralne.

  2. Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

    Science.gov (United States)

    Cherkaoui Jaouad, Imane; Laarabi, Fatima Z; Chafai Elalaoui, Siham; Lyonnet, Stanislas; Henrion-Caude, Alexandra; Sefiani, Abdelaziz

    2015-07-01

    Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers. It is caused by mutations in RMRP, which is transcribed as an RNA component of the mitochondrial RNA-processing ribonuclease. We report the clinical and molecular data of a Moroccan patient with CHH. Sequencing of RMRP identified 2 mutations in the patient: the known mutation g.97G>A and the variation g.27G>C, which has not been reported previously. Given the high mutational heterogeneity, the high frequency of variations in the region, and the fact that RMRP is a non-coding gene, assigning the pathogenicity to RMRP mutations remains a difficult task. Therefore, we compared the characteristics of the primary and secondary structures of mutated RMRP sequences. The location of our mutations within the secondary structure of the RMRP molecule revealed that the novel g.27G>C mutation causes a disruption in the Watson-Crick base pairing, which results in an impairment of a highly conserved P3 domain. Our work prompts considering the consequences of novel RMRP nucleotide variations on conserved RNA structures to gain insights into the pathogenicity of mutations.

  3. Left bundle-branch block

    DEFF Research Database (Denmark)

    Risum, Niels; Strauss, David; Sogaard, Peter

    2013-01-01

    The relationship between myocardial electrical activation by electrocardiogram (ECG) and mechanical contraction by echocardiography in left bundle-branch block (LBBB) has never been clearly demonstrated. New strict criteria for LBBB based on a fundamental understanding of physiology have recently...

  4. Left bundle-branch block

    DEFF Research Database (Denmark)

    Risum, Niels; Strauss, David; Sogaard, Peter;

    2013-01-01

    The relationship between myocardial electrical activation by electrocardiogram (ECG) and mechanical contraction by echocardiography in left bundle-branch block (LBBB) has never been clearly demonstrated. New strict criteria for LBBB based on a fundamental understanding of physiology have recently...

  5. Lung herniation: an uncommon presentation of Poland's syndrome in a neonate at birth.

    Science.gov (United States)

    Chandran, Suresh; Revanna, Krishna Gopagondanahalli; Ari, Dinesh; Rana, Aftab Ahmed

    2013-08-06

    A term male infant was admitted to the neonatal intensive care unit with an asymmetric chest wall and a herniating mass through the left fourth intercostal space. While crying, the left fourth intercostal space revealed a mass which herniated on expiration and receded on inspiration. On auscultation, the heart sounds were audible on the right side of the chest. Systemic examination was otherwise unremarkable. A roentgenogram of the chest revealed dextrocardia and hyperlucent left lung fields. Echocardiogram showed dextrocardia with a structurally normal heart. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the left pectoral muscles, ribs and nipple, dextrocardia and lung herniation. He was thriving well when reviewed at 2 years of age.

  6. Apraxia in left-handers.

    Science.gov (United States)

    Goldenberg, Georg

    2013-08-01

    In typical right-handed patients both apraxia and aphasia are caused by damage to the left hemisphere, which also controls the dominant right hand. In left-handed subjects the lateralities of language and of control of the dominant hand can dissociate. This permits disentangling the association of apraxia with aphasia from that with handedness. Pantomime of tool use, actual tool use and imitation of meaningless hand and finger postures were examined in 50 consecutive left-handed subjects with unilateral hemisphere lesions. There were three aphasic patients with pervasive apraxia caused by left-sided lesions. As the dominant hand is controlled by the right hemisphere, they constitute dissociations of apraxia from handedness. Conversely there were also three patients with pervasive apraxia caused by right brain lesions without aphasia. They constitute dissociations of apraxia from aphasia. Across the whole group of patients dissociations from handedness and from aphasia were observed for all manifestations of apraxia, but their frequency depended on the type of apraxia. Defective pantomime and defective tool use occurred rarely without aphasia, whereas defective imitation of hand, but not finger, postures was more frequent after right than left brain damage. The higher incidence of defective imitation of hand postures in right brain damage was mainly due to patients who had also hemi-neglect. This interaction alerts to the possibility that the association of right hemisphere damage with apraxia has to do with spatial aptitudes of the right hemisphere rather than with its control of the dominant left hand. Comparison with data from right-handed patients showed no differences between the severity of apraxia for imitation of hand or finger postures, but impairment on pantomime of tool use was milder in apraxic left-handers than in apraxic right-handers. This alleviation of the severity of apraxia corresponded with a similar alleviation of the severity of aphasia as

  7. To the Left or the Right?

    Institute of Scientific and Technical Information of China (English)

    ZHANGZHAOHUI

    2004-01-01

    THE Left Bank Gallery in the Zhongguancun area of Beijing's Haidian District unveiled “The Left-Wing” in late December 2003. The gallery housed the exhibit two huge concrete floors within a commercialreal estate project called Left Bank.

  8. 基底动脉发育不良影像学特征%Imaging characteristics of basilar artery hypoplasia

    Institute of Scientific and Technical Information of China (English)

    顾华; 钱晓军; 王双坤; 闵小红; 鲁万红; 胡文立

    2014-01-01

    目的 研究基底动脉发育不良(BAH)的影像学特征.方法 回顾2009年10月至2013年8月在首都医科大学附属北京朝阳医院进行MRA和MRI检查的连续病例.根据BAH诊断标准共检出210例BAH,测量(椎)基底动脉直径.根据诊断标准急性脑梗死分成前循环和后循环梗死.结果 10 193例MRA中检出210例BAH,女性多于男性.BAH伴有双侧胚胎型大脑后动脉175例(83.3%),单侧35例(16.7%).99.5% BAH患者伴有V4段椎动脉发育不良;颈段(V1 ~V3)椎动脉发育不良占56.0%(28/50).210例中74例合并急性脑梗死,男性多于女性(59.5%比40.5%,P=0.021).急性脑梗死中BAH的发病率是2.2%(74/3 294).结论 BAH是较少见的脑血管发育异常,伴有胚胎型大脑后动脉和V4段椎动脉发育不良.%Objective To determine the imaging characteristics of basilar artery hypoplasia (BAH).Methods From October 2009 to August 2013,10 193 magnetic resonance angiogram (MRA) and 31 716 magnetic resonance imaging (MRI) consecutive cases were retrospectively retrieved from our institutional Picture Archiving and Communication System (PACS) database.BAH was defined as a continuous diameter reduction all over artery and a basilar artery diameter ≤2 mm.The same cut-off value was applied for vertebral artery hypoplasia (VAH).We measured the diameters of basilar and vertebral arteries with PACS in all patients according to source imaging and IMP construction of MRA.The carotid arterial computed tomography angiogram (CTA) profiles were reviewed in 50 patients.The fetal-type posterior circle of Willis (FTP) was assessed.The diagnosis of acute cerebral infarction was based on clinical symptoms,signs and a high signal on diffusion-weighted imaging (DWI).Acute cerebral infarction was divided into anterior circulation stroke (ACS) and posterior circulation stroke (PCS).Results A total of 210 BAH were identified among 10 193 consecutive patients.BAH was more common in females (56.7%) than males

  9. Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia

    Science.gov (United States)

    Kahn, Benjamin M.; Corman, Tanya S.; Lovelace, Korah; Hong, Mingi; Krauss, Robert S.

    2017-01-01

    ABSTRACT Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh) during mouse forebrain development. SOD is also associated with young maternal age, suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, might increase the risk of developing this condition. Here, we address the hypothesis that SOD is a multifactorial disorder stemming from interactions between mutations in Shh pathway genes and prenatal ethanol exposure. Mouse embryos with mutations in the Shh co-receptor, Cdon, were treated in utero with ethanol or saline at embryonic day 8 (E8.0) and evaluated for optic nerve hypoplasia (ONH), a prominent feature of SOD. We show that both Cdon−/− mutation and prenatal ethanol exposure independently cause ONH through a similar pathogenic mechanism that involves selective inhibition of Shh signaling in retinal progenitor cells, resulting in their premature cell-cycle arrest, precocious differentiation and failure to properly extend axons to the optic nerve. The ONH phenotype was not exacerbated in Cdon−/− embryos treated with ethanol, suggesting that an intact Shh signaling pathway is required for ethanol to exert its teratogenic effects. These results support a model whereby mutations in Cdon and prenatal ethanol exposure increase SOD risk through spatiotemporal perturbations in Shh signaling activity. PMID:27935818

  10. Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Benjamin M. Kahn

    2017-01-01

    Full Text Available Septo-optic dysplasia (SOD is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh during mouse forebrain development. SOD is also associated with young maternal age, suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, might increase the risk of developing this condition. Here, we address the hypothesis that SOD is a multifactorial disorder stemming from interactions between mutations in Shh pathway genes and prenatal ethanol exposure. Mouse embryos with mutations in the Shh co-receptor, Cdon, were treated in utero with ethanol or saline at embryonic day 8 (E8.0 and evaluated for optic nerve hypoplasia (ONH, a prominent feature of SOD. We show that both Cdon−/− mutation and prenatal ethanol exposure independently cause ONH through a similar pathogenic mechanism that involves selective inhibition of Shh signaling in retinal progenitor cells, resulting in their premature cell-cycle arrest, precocious differentiation and failure to properly extend axons to the optic nerve. The ONH phenotype was not exacerbated in Cdon−/− embryos treated with ethanol, suggesting that an intact Shh signaling pathway is required for ethanol to exert its teratogenic effects. These results support a model whereby mutations in Cdon and prenatal ethanol exposure increase SOD risk through spatiotemporal perturbations in Shh signaling activity.

  11. 2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome.

    Science.gov (United States)

    Vimercati, A; Chincoli, A; de Gennaro, A C; DʼAddario, V; Cicinelli, E

    2016-07-01

    This paper highlights the utility of 2D and 3D ultrasonography in the prenatal diagnosis of facial dysmorphisms suggestive of very rare syndromes such as 3-M syndrome. Two pregnant women at risk for fetal skeletal dysplasias were referred to our clinic for 2D/3D ultrasound scan in the second trimester of pregnancy. Only one of the patients had a familial history of 3-M syndrome. Karyotyping and genetic testing of abortion material were performed in both cases. 2D ultrasonography revealed growth retardation of the long bones in both cases. In the case without a familial history of the syndrome, 2D and 3D ultrasonography showed an absence of nasal bones and a flat malar region suggestive of 3-M syndrome, although the difficult differential diagnosis included other dysmorphic growth disorders with prenatal onset. The karyotype was normal but the pregnancy was terminated in both cases. Postmortem examination confirmed 3-M syndrome as indicated by prenatal findings. In high-risk cases with a familial history of 3-M syndrome, prenatal diagnosis of 3-M syndrome is possible by analyzing fetal DNA. In the absence of risk, a definitive prenatal diagnosis is often not possible but may be suspected in the presence of shortened long bones, normal head size and typical flattened malar region (midface hypoplasia) shown on complementary 2D and 3D sonograms. 2D and 3D ultrasonography has been shown to offer reliable information for the prenatal study of skeletal and facial anomalies and can be useful if there is a suspicion of 3-M syndrome in a pregnancy not known to be at risk.

  12. Wall Imaging for Unilateral Intracranial Vertebral Artery Hypoplasia with Three-dimensional High-isotropic Resolution Magnetic Resonance Images

    Institute of Scientific and Technical Information of China (English)

    Xian-Jin Zhu; Wu Wang; Bin Du; Lei Liu; Xin-Xin He; Li-Bin Hu; Xue-Bin Zhang

    2015-01-01

    Background:There are few studies for evaluating wall characteristics of intracranial vertebral artery hypoplasia (VAH).The aim of this study was to determine wall characteristics of VAH with three-dimensional volumetric isotropic turbo spin echo acquisition (3D VISTA) images and differentiate between acquired atherosclerotic stenosis and VAH.Methods:Thirty patients with suspicious VAH by luminograms were retrospectively enrolled between January 2014 and February 2015.The patients were classified as "acquired atherosclerotic stenosis" or "VAH" based on 3D VISTA images.The wall characteristics of VAH were assessed to determine the presence of atherosclerotic lesions,and the patients were classified into two subgroups (VAH with atherosclerosis and VAH with normal wall).Wall characteristics of basilar arteries and vertebral arteries were also assessed.The clinical and wall characteristics were compared between the two groups.Results:Five of 30 patients with suspicious VAH were finally diagnosed as acquired atherosclerotic stenosis by 3D VISTA images.25 patients were finally diagnosed as VAH including 16 (64.00%) patients with atherosclerosis and 9 (36.00%) patients with normal wall.In the 16 patients with atherosclerosis,plaque was found in 9 patients,slight wall thickening in 6 patients,and thrombus and wall thickening in 1 patient.Compared with VAH patients with normal wall,VAH patients with atherosclerosis showed atherosclerotic basilar arteries and dominant vertebral arteries more frequently (P =0.000).Conclusions:Three-dimensional VISTA images enable differentiation between the acquired atherosclerotic stenosis and VAH.VAH was also prone to atherosclerotic processes.

  13. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome.

    Directory of Open Access Journals (Sweden)

    Wei Liu

    Full Text Available BACKGROUND: Focal Dermal Hypoplasia (FDH is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue homeostasis and stem cell maintenance. Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated. RESULTS: We introduced intronic loxP sites and a neomycin gene in the mouse Porcn locus for conditional inactivation. Porcn-ex3-7flox mice have no apparent developmental defects, but chimeric mice retaining the neomycin gene (Porcn-ex3-7Neo-flox have limb, skin, and urogenital abnormalities. Conditional Porcn inactivation by EIIa-driven or Hprt-driven Cre recombinase results in increased early embryonic lethality. Mesenchyme-specific Prx-Cre-driven inactivation of Porcn produces FDH-like limb defects, while ectodermal Krt14-Cre-driven inactivation produces thin skin, alopecia, and abnormal dentition. Furthermore, cell-based assays confirm that human PORCN mutations reduce WNT3A secretion. CONCLUSIONS: These data indicate that Porcn inactivation in the mouse produces a model for human FDH and that phenotypic features result from defective WNT signaling in ectodermal- and mesenchymal-derived structures.

  14. Producing The New Regressive Left

    DEFF Research Database (Denmark)

    Crone, Christine

    to be a committed artist, and how that translates into supporting al-Assad’s rule in Syria; the Ramadan programme Harrir Aqlak’s attempt to relaunch an intellectual renaissance and to promote religious pluralism; and finally, al-Mayadeen’s cooperation with the pan-Latin American TV station TeleSur and its ambitions...... becomes clear from the analytical chapters is the emergence of the new cross-ideological alliance of The New Regressive Left. This emerging coalition between Shia Muslims, religious minorities, parts of the Arab Left, secular cultural producers, and the remnants of the political,strategic resistance...... coalition (Iran, Hizbollah, Syria), capitalises on a series of factors that bring them together in spite of their otherwise diverse worldviews and agendas. The New Regressive Left is united by resistance against the growing influence of Saudi Arabia in the religious, cultural, political, economic...

  15. Comparison of conventional inserts and an add-on electron MLC for chest wall irradiation of left-sided breast cancer

    Energy Technology Data Exchange (ETDEWEB)

    Vatanen, Tero; Lahtinen, Tapani (Dept. of Oncology, Kuopio Univ. Hospital, Kuopio (Finland)); Traneus, Erik (Nucletron Scandinavia AB, Uppsala (Sweden))

    2009-04-15

    Background. Collimation of irregularly shaped clinical electron beams is currently based on electron inserts made of low melting point alloys. The present investigation compares a conventional electron applicator with insert and add-on eMLC-based dose distributions in the postoperative chest wall irradiation of left-sided breast cancer. Material and methods. Voxel Monte Carlo++ (VMC++) calculated dose distributions related to electron fields were compared with 10 left-sided breast cancer patients after radical mastectomy. The prescription dose was 50 Gy at a build-up maximum. The same dose was prescribed for the ipsilateral axillary, parasternal and supraclavicular lymph nodes that were treated with photons and calculated with a pencil beam algorithm. The insert beams were shaped with 1.5 cm thick Wood's metal electron inserts in an electron applicator of a Varian 2100 C/D linac. Doses for the eMLC-shaped beams were calculated for an eMLC prototype with 2 cm thick and 5 mm wide steel leaves. The same collimator-to-surface distance (CSD) of 5.8 cm was used for both collimators. Results. The mean PTV dose was slightly higher for the eMLC plans (50.7 vs 49.5 Gy, p<0.001, respectively). The maximum doses assessed by D5% for the eMLC and insert were 60.9 and 59.1 Gy (p<0.001). The difference was due to the slightly higher doses near the field edges for the eMLC. The left lung V20 volumes were 34.5% and 34.0% (p<0.001). There was only a marginal difference in heart doses. Discussion: Despite a slight increase of maximum dose in PTV the add-on electron MLC for chest wall irradiation results in practically no differences in dose distributions compared with the present insert-based collimation.

  16. Mitochondria and left ventricular hypertrophy

    Institute of Scientific and Technical Information of China (English)

    Haiyan Zhu; Shiwen Wang

    2008-01-01

    @@ Introduction Left ventricular hypertrophy (LVH) is one of the vicious organ damages of essential hypertension.It contributes a lot to high mortality of essential hypertension due to sudden cardiac death,ventricular arrhythmia and heart failure.Many factors involve in the pathogenesis of hypertension-induced LVH including inherited variants as well as environmental factors.

  17. 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

  18. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.

    Science.gov (United States)

    Kasher, Paul R; Namavar, Yasmin; van Tijn, Paula; Fluiter, Kees; Sizarov, Aleksander; Kamermans, Maarten; Grierson, Andrew J; Zivkovic, Danica; Baas, Frank

    2011-04-15

    Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. The majority of PCH2 and PCH4 cases are caused by mutations in the TSEN54 gene; one of the four subunits comprising the tRNA-splicing endonuclease (TSEN) complex. We hypothesized that TSEN54 mutations act through a loss of function mechanism. At 8 weeks of gestation, human TSEN54 is expressed ubiquitously in the brain, yet strong expression is seen within the telencephalon and metencephalon. Comparable expression patterns for tsen54 are observed in zebrafish embryos. Morpholino (MO) knockdown of tsen54 in zebrafish embryos results in loss of structural definition in the brain. This phenotype was partially rescued by co-injecting the MO with human TSEN54 mRNA. A developmental patterning defect was not associated with tsen54 knockdown; however, an increase in cell death within the brain was observed, thus bearing resemblance to PCH pathophysiology. Additionally, N-methyl-N-nitrosourea mutant zebrafish homozygous for a tsen54 premature stop-codon mutation die within 9 days post-fertilization. To determine whether a common disease pathway exists between TSEN54 and other PCH-related genes, we also monitored the effects of mitochondrial arginyl-tRNA synthetase (rars2; PCH1 and PCH6) knockdown in zebrafish. Comparable brain phenotypes were observed following the inhibition of both genes. These data strongly support the hypothesis that TSEN54 mutations cause PCH through a loss of function mechanism. Also we suggest that a common disease pathway may exist between TSEN54- and RARS2-related PCH, which may involve a tRNA processing-related mechanism.

  19. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage–hair hypoplasia

    OpenAIRE

    2013-01-01

    Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they are a source of miRNAs. We show that the 268-nt non-coding RNA component of mitochondrial RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated RMRP-S1 and RMRP-S2, which function as miRNAs. Point mutations in RNase MRP cause human cartilage–hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. SHAPE chemical probing ident...

  20. Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis.

    Science.gov (United States)

    Hussein, Kais; Steinemann, Doris; Scholz, Henrike; Menkhaus, Ralf; Feist, Henning; Kreipe, Hans

    2010-08-18

    We describe the clinical course and have characterised anatomically and genetically a unique case of a newborn with bilateral hypoplasia of pulmonary arteries, consecutive extremely hypoplastic lung tissue and associated unilateral renal agenesis. Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure. Genetic analysis by array-based comparative genomic hybridisation and quantitative PCR revealed duplication of 1p21, which, however, might not be the disease causing aberration. This case might represent an extreme form of previously reported, rare cases with simultaneous dysorganogenesis of lungs and kidneys.

  1. 示指拇化治疗重度拇指发育不全%Index finger pollicization for treatment of severe congenital hypoplasia of the thumb

    Institute of Scientific and Technical Information of China (English)

    芮永军; 施海峰; 张全荣; 糜菁熠; 许亚军; 张辉; 邱扬; 寿奎水

    2009-01-01

    目的 介绍示指拇化治疗先天性重度拇指发育不全(ⅢB~V型)的手术方法.方法 对Ⅳ型(漂浮拇)2例、ⅢB型(腕掌关节缺如)2例采用示指拇化,将示指自掌骨部位转位重建拇指.结果 4例移位指全部存活.术后随访2~3年,虎口开大70°~90°,接近健侧.拇指掌指关节屈曲后可与所有手指对指,近指间关节活动度从0°至100~120°,远指间关节活动度从0°至90°.指端两点分辨觉同健侧,外观和功能满意.结论 采用示指转位治疗重度发育不全的拇指,外形和功能满意,克服了以往采用皮瓣和骨瓣移植的缺点,是一种实用而可取的方法,值得推广.%Objective To introduce the surgical techniques of index finger pollicization for treatment of severe congenital thumb hypoplasia (type III B to V ). Methods Two cases of type IV thumb hypoplasia (floating thumb) and 2 cases of type III B thumb hypoplasia ( carpometacarpal joint absence) were treated by transferring the index finger at the level of metacarpal bone to the position of the missing thumb. Results All 4 pollicized fingers survived. The patients were followed up for 2 to 3 years postoperatively. The first web space was similar to the normal side, with maximum open degree of 70° to 90°. Range of motion of the proximal interphalangeal joint improved from 0° to 100°-120°, while that of the distal interphalangeal joint from 0° to 90°. 2-PD was the same as the normal side. The overall appearance and function were satisfaction. Conclusion Index finger pollicization can achieve satisfactory appearance and function in treating severe thumb hypoplasia. It overcomes the disadvantages of flap or osseocutaneous flap transfer. This method is practical and therefore worth of popularization.

  2. Low scale left-right-right-left symmetry

    CERN Document Server

    Abbas, Gauhar

    2016-01-01

    We propose an effective left-right-right-left model with a parity breaking scale around a few TeV. One of the main achievements of the model is that the mirror fermions as well as the mirror gauge sector simultaneously could be at TeV scale. It is shown that the most dangerous quadratic divergence of the SM Higgs boson involving the top quark in the loop is naturally suppressed atleast up to approximately $10$ TeV. This could lead to a sufficient parameter space in the scalar potential to make the SM Higgs mass natural even up to the Planck scale. An elegant symmetry breaking pattern is also proposed.

  3. What Research Tells Us About Left Handedness.

    Science.gov (United States)

    Arnold, Rita

    Left handed people have had bad publicity throughout history, and the resulting myths and disadvantages of left handedness have often not been properly dealt with in the classroom. Our language itself maintains a bias against the left, and many other cultures have defined the left as disreputable. Today's life style also provides many physical…

  4. 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.

  5. Right-handed and left-landed

    Institute of Scientific and Technical Information of China (English)

    李悦

    2005-01-01

    Today about 15% of the number of people is left-handed.But why are people left-handed? The answer is the way the brain (大脑) works.The brain has two halves——the right half and the left half.The right half controls (控制)the left side of the body,and the left controls the right side of the body.

  6. Cerebellar Hypoplasia and Autism

    OpenAIRE

    1989-01-01

    The size of the cerebellar hemisphere and vermal lobules was measured in ten autistic and eight normal control subjects at the Neuropsychology Research Laboratory, Children’s Hospital Research Center, and the Departments of Neurosciences and Radiology, School of Medicine, University of California at San Diego, LaJolla.

  7. Pulmonary hypoplasia on preterm infant associated with diffuse chorioamniotic hemosiderosis caused by intrauterine hemorrhage due to massive subchorial hematoma: report of a neonatal autopsy case.

    Science.gov (United States)

    Yamada, Sohsuke; Marutani, Takamitsu; Hisaoka, Masanori; Tasaki, Takashi; Nabeshima, Atsunori; Shiraishi, Mika; Sasaguri, Yasuyuki

    2012-08-01

    A male infant born prematurely at 31 weeks of gestation weighed 789 g and had mildly brown-colored oral/tracheal aspirates at delivery. The amniotic fluid was also discolored, and its index was below 5. The patient died of hypoxemic respiratory and cardiac failure 2 hours after birth. The maternal profiles showed placenta previa and intrauterine growth restriction (IUGR) at 22 weeks of gestation, and revealed recurrent episodes of antenatal and substantial vaginal bleeding and oligohydramnios, indicating chronic abruption-oligohydramnios sequence. The thickened placenta, weighing 275 g, grossly displayed unevenness and diffuse opacity with green to brown discoloration in the chorioamniotic surface, and revealed chronic massive subchorial hematomas (Breus' mole) with old peripheral blood clot, circumvallation, and infarction. Microscopically, diffuse Berlin-blue staining-positive hemosiderin deposits were readily encountered in the chorioamniotic layers of the chorionic plate, consistent with diffuse chorioamniotic hemosiderosis (DCH) due to Breus' mole, accompanied by diffuse amniotic necrosis. At autopsy, an external examination showed several surface anomalies and marked pulmonary hypoplasia, 0.006 (less 0.012) of lung:body weight ratio. Since Breus' mole has a close relationship with intrauterine hemorrhage, resulting in DCH, IUGR, and/or pulmonary hypoplasia of the newborn, the present features might be typical.

  8. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

    Science.gov (United States)

    Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A

    2013-12-05

    Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives.

  9. Basilar artery hypoplasia and its clinical significance%基底动脉发育不全及其临床意义

    Institute of Scientific and Technical Information of China (English)

    张道培; 张淑玲; 许予明

    2015-01-01

    基底动脉发育不全(basilar artery hypoplasia,BAH)在过去较少受到关注,但检出率的提高使得BAH的临床意义逐渐被认识.BAH与血管危险因素相互作用,可能促发后循环缺血事件的发生,脑诱发电位可作为早期检测这一病理生理学事件的重要手段.深入研究BAH的病理意义,有助于加深对后循环缺血事件发病机制的认识.%Basilar artery hypoplasia (BAH) has been paid less attention to in the past.However,the increased detection rate makes the clinical significance of BAH to be gradually recognized.BAH have interaction with vascular risk factors,and this may promote the occurrence of ischemic events in posterior circulation.Brain evoked potential can be used as an important means for early detection of this pathophysiological events.The depth study of pathological significance of BAH helps to deepen the understanding of the mechanisms of posterior circulation ischemic events.

  10. Systolic left ventricular function according to left ventricular concentricity and dilatation in hypertensive patients

    DEFF Research Database (Denmark)

    Bang, Casper; Gerdts, Eva; Aurigemma, Gerard P;

    2013-01-01

    Left ventricular hypertrophy [LVH, high left ventricular mass (LVM)] is traditionally classified as concentric or eccentric based on left ventricular relative wall thickness. We evaluated left ventricular systolic function in a new four-group LVH classification based on left ventricular dilatatio...

  11. Rebuilding the US Health Left

    Directory of Open Access Journals (Sweden)

    Victor W. Sidel, MD

    2010-02-01

    Full Text Available With this issue Social Medicine begins a series of invited papers on the topic: “Rebuilding the US Health Left.” In this editorial we will outline our vision for this series. We undertake this project aware that our good friend and mentor, Dr. Walter Lear, one of the leading health activists of the 20th century, lies critically ill. Walter was the creator and custodian of the US Health Left Archives, a collection that is now with the University of Pennsylvania library. The collection reminds us of the important role left health care workers played in US history throughout the 20th century. They advocated for a national health program (Committee on the Costs of Medical Care, Physicians Forum, Medical Care Section/APHA, HealthPAC, Physicians for a National Health Program, National Physicians Alliance, provided international solidarity (American Soviet Medical Society, international brigades during the Spanish Civil War, Central American Solidarity Movement, Committee to Help Chilean Health Workers, Doctors for Global Health, traced the connections between disease and social class (Sigerist Circle, Spirit of 1848, APHA, fought for workers’ health (Councils for Occupational Safety and Health; Occupational Health and Safety Section, APHA participated in anti-war movements (Medical Committee for Human Rights, Physicians for Social Responsibility, International Physicians for the Prevention of Nuclear War, created new models of health care delivery (Health Cooperatives, Prepaid Health Maintenance Organizations, Community Health Centers, National Health Service Corps, Free Clinics, were central to the struggle for women’s rights (Planned Parenthood, Physicians for Reproductive Choice and Health, supported the civil rights movement both in medicine and in the broader society (National Medical Association, Medical Committee for Human Rights, played key roles in the movement for gay rights (ACT-UP, Gay & Lesbian Medical Association, Lesbian, Gay

  12. Automated left ventricular capture management.

    Science.gov (United States)

    Crossley, George H; Mead, Hardwin; Kleckner, Karen; Sheldon, Todd; Davenport, Lynn; Harsch, Manya R; Parikh, Purvee; Ramza, Brian; Fishel, Robert; Bailey, J Russell

    2007-10-01

    The stimulation thresholds of left ventricular (LV) leads tend to be less reliable than conventional leads. Cardiac resynchronization therapy (CRT) requires continuous capture of both ventricles. The purpose of this study is to evaluate a novel algorithm for the automatic measurement of the stimulation threshold of LV leads in cardiac resynchronization systems. We enrolled 134 patients from 18 centers who had existing CRT-D systems. Software capable of automatically executing LV threshold measurements was downloaded into the random access memory (RAM) of the device. The threshold was measured by pacing in the left ventricle and analyzing the interventricular conduction sensed in the right ventricle. Automatic LV threshold measurements were collected and compared with manual LV threshold tests at each follow-up visit and using a Holter monitor system that recorded both the surface electrocardiograph (ECG) and continuous telemetry from the device. The proportion of Left Ventricular Capture Management (LVCM) in-office threshold tests within one programming step of the manual threshold test was 99.7% (306/307) with a two-sided 95% confidence interval of (98.2%, 100.0%). The algorithm measured the threshold successfully in 96% and 97% of patients after 1 and 3 months respectively. Holter monitor analysis in a subset of patients revealed accurate performance of the algorithm. This study demonstrated that the LVCM algorithm is safe, accurate, and highly reliable. LVCM worked with different types of leads and different lead locations. LVCM was demonstrated to be clinically equivalent to the manual LV threshold test. LVCM offers automatic measurement, output adaptation, and trends of the LV threshold and should result in improved ability to maintain LV capture without sacrificing device longevity.

  13. Left Supraclavicular Spindle Cell Lipoma

    OpenAIRE

    Oladejo Olaleye; Bertram Fu; Ram Moorthy; Charles Lawson; Myles Black; David Mitchell

    2010-01-01

    Background. Spindle cell lipoma (SCL) is a benign lipomatous tumour, typically occurring in the posterior neck, shoulder or upper back of elderly males. They compose of fat, CD34 positive spindle cells, and ropey collagen on a myxoid matrix. This case highlights a rare presentation of SCL and the need for pre-operative diagnosis. Case Report. A 63-year-old gentleman presented with a pre-existing left supraclavicular mass that had recently increased in size. FNA and CT Scans were performed and...

  14. Left atrial ball valve thrombus

    Directory of Open Access Journals (Sweden)

    R. Balaji

    2013-10-01

    Full Text Available "Ball valve thrombus" which is a spherical free floating clot in left atrium is an often quoted, but uncommonly encountered complication in patients with severe mitral stenosis of rheumatic origin, who are in atrial fibrillation. We describe the case of a 31-year-old lady with rheumatic heart disease, severe mitral stenosis and moderately severe aortic stenosis who had undergone closed mitral valvotomy 13 years ago. The patient presented with an episode of non-exertional syncope and breathlessness on exertion of 6 months duration and was in normal sinus rhythm. Echocardiography facilitated ante-mortem diagnosis and prompt institution of surgery was life saving.

  15. Facts about Hypoplastic Left Heart Syndrome

    Science.gov (United States)

    ... left and right sides of the heart: the patent ductus arteriosus and the patent foramen ovale . Normally, these openings ... functioning left side of the heart through the patent ductus arteriosus and the patent foramen ovale. The right side ...

  16. The Semigroup Structure of Left Clifford Semirings

    Institute of Scientific and Technical Information of China (English)

    Yu Qi GUO; Kar Ping SHUM; M. K. SEN

    2003-01-01

    In this paper, we generalize Clifford semirings to left Clifford semirings by means of theso-called band semirings. We also discuss a special case of this kind of semirings, that is, strongdistributive lattices of left rings.

  17. Left supraclavicular spindle cell lipoma.

    Science.gov (United States)

    Olaleye, Oladejo; Fu, Bertram; Moorthy, Ram; Lawson, Charles; Black, Myles; Mitchell, David

    2010-01-01

    Background. Spindle cell lipoma (SCL) is a benign lipomatous tumour, typically occurring in the posterior neck, shoulder or upper back of elderly males. They compose of fat, CD34 positive spindle cells, and ropey collagen on a myxoid matrix. This case highlights a rare presentation of SCL and the need for pre-operative diagnosis. Case Report. A 63-year-old gentleman presented with a pre-existing left supraclavicular mass that had recently increased in size. FNA and CT Scans were performed and results discussed in the mutidisciplinary team meeting. Excisional biopsy was recommended. Radiology. CT neck showed a left supraclavicular mass of fatty density with fine internal septations. A low-grade liposarcoma could not be excluded. Histopathology. FNA was indeterminate. Histology of specimen showed bland spindle cells with no evidence of malignancy. Immuno-histochemistry showed SCL with CD34 positivity and negative staining on CDK4 and p16. Management. Excision biopsy of the mass was performed which was technically difficult as the mass invaginated around the brachial plexus. The patient recovered well post-operatively with no neurological deficits. Conclusion. Spindle cell lipoma is a rare benign tumour and a pre-operative diagnosis based on the clinical context, imaging and immuno-histochemistry is crucial to management.

  18. Left Supraclavicular Spindle Cell Lipoma

    Directory of Open Access Journals (Sweden)

    Oladejo Olaleye

    2010-01-01

    This case highlights a rare presentation of SCL and the need for pre-operative diagnosis. Case Report. A 63-year-old gentleman presented with a pre-existing left supraclavicular mass that had recently increased in size. FNA and CT Scans were performed and results discussed in the mutidisciplinary team meeting. Excisional biopsy was recommended. Radiology. CT neck showed a left supraclavicular mass of fatty density with fine internal septations. A low-grade liposarcoma could not be excluded. Histopathology. FNA was indeterminate. Histology of specimen showed bland spindle cells with no evidence of malignancy. Immuno-histochemistry showed SCL with CD34 positivity and negative staining on CDK4 and p16. Management. Excision biopsy of the mass was performed which was technically difficult as the mass invaginated around the brachial plexus. The patient recovered well post-operatively with no neurological deficits. Conclusion. Spindle cell lipoma is a rare benign tumour and a pre-operative diagnosis based on the clinical context, imaging and immuno-histochemistry is crucial to management.

  19. [Pulmonary hypertension caused by left heart disease].

    Science.gov (United States)

    Erer, Betül; Eren, Mehmet

    2010-09-01

    Increased resistance to pulmonary venous drainage is the main mechanism in pulmonary hypertension (PH) developing due to left heart disease. This condition may occur as a result of various diseases affecting left ventricle, left atrium, mitral or aortic valves. Pulmonary hypertension is the common and well-recognized complication of left ventricular systolic dysfunction and pulmonary arterial hypertension accompanying chronic heart failure is related to increased mortality. Treatment should be tailored according to the underlying disease.

  20. Transcortical mixed aphasia with left frontoparietal lesions.

    Science.gov (United States)

    Maeshima, S; Uematsu, Y; Terada, T; Nakai, K; Itakura, T; Komai, N

    1996-05-01

    We present a case of transcortical mixed aphasia following a left frontoparietal infarct caused by vasospasm after subarachnoid haemorrhage. Although CT showed low-density areas in the left frontal lobe and basal ganglia, single photon emission CT revealed a wider area of low perfusion over the entire left hemisphere, except for the left perisylvian speech areas. Hence, transcortical mixed aphasia may be caused by the isolation of perisylvian speech areas due to disconnection from surrounding areas.

  1. Split Left GC-Lpp Semigroups

    Institute of Scientific and Technical Information of China (English)

    Zhen Zhen LI; Xiao Jiang GUO; Zhi Qing FU

    2012-01-01

    A left GC-lpp semigroup S is called split if the natural homomorphism γb of S onto S/γ induced by γ is split.It is proved that a left GC-lpp semigroup is split if and only if it has a left adequate transversal.In particular,a construction theorem for split left GC-lpp semigroups is established.

  2. Bicyclic semigroups of left I-quotients

    CERN Document Server

    Ghroda, Nassraddin

    2011-01-01

    In this article we study left I-orders in the bicyclic monoid $\\mathcal{B}$. We give necessary and sufficient conditions for a subsemigroup of $\\mathcal{B}$ to be a left I-oreder in $\\mathcal{B}$. We then prove that any left I-order in $\\mathcal{B}$ is straight.

  3. The Left-Handed: "Their Sinister" History.

    Science.gov (United States)

    Costas, Elaine Fowler

    The history of left-handedness can provide teachers and parents a better understanding of left-handed children and give those children more pride in their difference. No child should be made to feel that he or she is abnormal because of using the left hand, although some specific instruction for these students is necessary in handwriting. Many…

  4. Left-handed Children in Singapore.

    Science.gov (United States)

    Gan, Linda

    1998-01-01

    Used teacher questionnaires to examine incidence of left-handedness in nearly 2,800 Singaporean children, racial differences in this left-handed population, and educational provisions in preschool and primary school. Findings indicated that 7.5% of preschoolers and 6.3% of primary children were left-handed, with a higher proportion being Chinese…

  5. 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

  6. CT opacity in the lungs was preceded by increased MDP activity on bone scintigraphy.

    Science.gov (United States)

    Song, Le; Zhang, Weifang; Zhang, Yanyan

    2014-11-01

    Elevated 99mTc-methylene diphosphonate (MDP) uptake in the left lung was demonstrated in a 41-year-old man with chronic lymphocytic leukemia. Lung infection was considered because the patient also had fever and pancytopenia. However, the thoracic CT performed the next day did not reveal abnormality which could explain the cause of left lung MDP activity. The repeated thoracic CTs weeks later demonstrated multiple ground-glass opacity in the left lung.

  7. Fetal reprogramming and senescence in hypoplastic left heart syndrome and in human pluripotent stem cells during cardiac differentiation.

    Science.gov (United States)

    Gaber, Naila; Gagliardi, Mark; Patel, Pranali; Kinnear, Caroline; Zhang, Cindy; Chitayat, David; Shannon, Patrick; Jaeggi, Edgar; Tabori, Uri; Keller, Gordon; Mital, Seema

    2013-09-01

    Hypoplastic left heart syndrome (HLHS) is a severe cardiac malformation characterized by left ventricle (LV) hypoplasia and abnormal LV perfusion and oxygenation. We studied hypoxia-associated injury in fetal HLHS and human pluripotent stem cells during cardiac differentiation to assess the effect of microenvironmental perturbations on fetal cardiac reprogramming. We studied LV myocardial samples from 32 HLHS and 17 structurally normal midgestation fetuses. Compared with controls, the LV in fetal HLHS samples had higher nuclear expression of hypoxia-inducible factor-1α but lower angiogenic growth factor expression, higher expression of oncogenes and transforming growth factor (TGF)-β1, more DNA damage and senescence with cell cycle arrest, fewer cardiac progenitors, myocytes and endothelial lineages, and increased myofibroblast population (P cells (SMCs) had less DNA damage compared with endothelial cells and myocytes. We recapitulated the fetal phenotype by subjecting human pluripotent stem cells to hypoxia during cardiac differentiation. DNA damage was prevented by treatment with a TGF-β1 inhibitor (P cells). The hypoplastic LV in fetal HLHS samples demonstrates hypoxia-inducible factor-1α up-regulation, oncogene-associated cellular senescence, TGF-β1-associated fibrosis and impaired vasculogenesis. The phenotype is recapitulated by subjecting human pluripotent stem cells to hypoxia during cardiac differentiation and rescued by inhibition of TGF-β1. This finding suggests that hypoxia may reprogram the immature heart and affect differentiation and development.

  8. Left-handed wrestlers are more successful.

    Science.gov (United States)

    Ziyagil, Mehmet Akif; Gursoy, Recep; Dane, Senol; Yuksel, Ramazan

    2010-08-01

    It has been reported that there is a high proportion of left-handers among top athletes in different sports. In this study, the goal was to examine the rate of left-handedness in the top wrestlers at the world championships for achievement by left-handed wrestlers. The rate of left-handedness was higher in wrestlers with medal honors compared to wrestlers without medals for both men and women. The winning numbers and match degrees were higher in the left-handed wrestlers than in both right- and mixed-handed wrestlers among top international wrestlers.

  9. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.

    Science.gov (United States)

    McCann, Liza J; McPartland, Jo; Barge, Dawn; Strain, Lisa; Bourn, David; Calonje, Eduardo; Verbov, Julian; Riordan, Andrew; Kokai, George; Bacon, Chris M; Wright, Michael; Abinun, Mario

    2014-01-01

    We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.

  10. Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.

    Science.gov (United States)

    Caselli, Rossella; Mencarelli, Maria Antonietta; Papa, Filomena Tiziana; Ariani, Francesca; Longo, Ilaria; Meloni, Ilaria; Vonella, Giuseppina; Acampa, Maurizio; Auteri, Alberto; Vicari, Stefano; Orsi, Alessandra; Hayek, Giuseppe; Renieri, Alessandra; Mari, Francesca

    2008-05-01

    Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with routine subtelomeric MLPA analysis. Deletions affecting a more proximal part of 7q36, namely bands 7q36.1q36.2 are less common, and may be missed by subtelomeric MLPA analysis. We report a 9-year-old girl with a 5.27 Mb deletion in 7q36.1q36.2, and compare her to literature patients proposing a phenotype characterized by mental retardation, unusual facial features, renal hypoplasia and long QT syndrome due to loss of the KCNH2 gene. These characteristics are sufficiently distinct that the syndrome may be diagnosed on clinical grounds.

  11. 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.

  12. Giant and thrombosed left ventricular aneurysm

    Institute of Scientific and Technical Information of China (English)

    Jose; Alberto; de; Agustin; Jose; Juan; Gomez; de; Diego; Pedro; Marcos-Alberca; Jose; Luis; Rodrigo; Carlos; Almeria; Patricia; Mahia; Maria; Luaces; Miguel; Angel; Garcia-Fernandez; Carlos; Macaya; Leopoldo; Perez; de; Isla

    2015-01-01

    Left ventricular aneurysms are a frequent complication of acute extensive myocardial infarction and are most commonly located at the ventricular apex. A timely diagnosis is vital due to the serious complications that can occur,including heart failure,thromboembolism,or tachyarrhythmias. We report the case of a 78-yearold male with history of previous anterior myocardial infarction and currently under evaluation by chronic heart failure. Transthoracic echocardiogram revealed a huge thrombosed and calcified anteroapical left ventricular aneurysm. Coronary angiography demonstrated that the left anterior descending artery was chronically occluded,and revealed a big and spherical mass with calcified borders in the left hemithorax. Left ventriculogram confirmed that this spherical mass was a giant calcified left ventricular aneurysm,causing very severe left ventricular systolic dysfunction. The patient underwent cardioverter-defibrillator implantation for primary prevention.

  13. Giant and thrombosed left ventricular aneurysm.

    Science.gov (United States)

    de Agustin, Jose Alberto; de Diego, Jose Juan Gomez; Marcos-Alberca, Pedro; Rodrigo, Jose Luis; Almeria, Carlos; Mahia, Patricia; Luaces, Maria; Garcia-Fernandez, Miguel Angel; Macaya, Carlos; de Isla, Leopoldo Perez

    2015-07-26

    Left ventricular aneurysms are a frequent complication of acute extensive myocardial infarction and are most commonly located at the ventricular apex. A timely diagnosis is vital due to the serious complications that can occur, including heart failure, thromboembolism, or tachyarrhythmias. We report the case of a 78-year-old male with history of previous anterior myocardial infarction and currently under evaluation by chronic heart failure. Transthoracic echocardiogram revealed a huge thrombosed and calcified anteroapical left ventricular aneurysm. Coronary angiography demonstrated that the left anterior descending artery was chronically occluded, and revealed a big and spherical mass with calcified borders in the left hemithorax. Left ventriculogram confirmed that this spherical mass was a giant calcified left ventricular aneurysm, causing very severe left ventricular systolic dysfunction. The patient underwent cardioverter-defibrillator implantation for primary prevention.

  14. Asymptomatic post-rheumatic giant left atrium.

    Science.gov (United States)

    Özkartal, Tardu; Tanner, Felix C; Niemann, Markus

    2016-06-26

    A 78-year-old asymptomatic woman was referred to our clinic for a second opinion regarding indication for mitral valve surgery. An echocardiogram showed a moderate mitral stenosis with a concomitant severe regurgitation. The most striking feature, however, was a giant left atrium with a parasternal anteroposterior diameter of 79 mm and a left atrial volume index of 364 mL/m². There are various echocardiographic definitions of a giant left atrium, which are mainly based on measurements of the anteroposterior diameter of the left atrium using M-mode in the parasternal long axis view. Since the commonly accepted method for echocardiographic evaluation of left atrial size is left atrial volume index, we propose a cut-off value of 140 mL/m(2) for the definition of a "giant left atrium".

  15. Does the serum uric acid level have any relation to arterial stiffness or blood pressure in adults with congenital renal agenesis and/or hypoplasia?

    Science.gov (United States)

    Yazici, Raziye; Guney, İbrahim; Altintepe, Lutfullah; Yazici, Mehmet

    2017-01-01

    The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. In this single center, cross-sectional study, a total of 55 patients (39 (% 70.9) with unilateral small kidney and 16 (%29.1) with renal agenesis) were included. The median age was 35 (21-50) years. The study population was divided into tertiles of serum uric acid (according to 2.40-3.96, 3.97-5.10, and 5.11-9.80 mg/dl cut-off values of serum uric acid levels). Official and 24-h ambulatory non-invasive blood pressures of all patients were measured. The arterial stiffness was assessed by pulse wave velocity (PWV). PWV values were increased from first to third tertile (5.5 ± 0.6, 5.7 ± 0.8, 6.1 ± 0.7, respectively), but this gradual increase between tertiles did not reach significance. Linear regression analyses showed a positive correlation between serum uric acid levels and PWV (β = 0.40, p = 0.010), but no correlation was found between uric acid and daytime systolic blood pressure (β = 0.24, p = 0.345). In congenital renal agenesis/hypoplasia, the serum uric acid level was positively correlated with arterial stiffness, but there was no correlation with blood pressure.

  16. Clinical psychomotor skills among left and right handed medical students: are the left-handed medical students left out?

    OpenAIRE

    2016-01-01

    Background There is a growing perception that the left handed (LH) medical students are facing difficulties while performing the clinical tasks that involve psychomotor skill, although the evidence is very limited and diverse. The present study aimed to evaluate the clinical psychomotor skills among Right-handed (RH) and left-handed (LH) medical students. Methods For this study, 54 (27 left handed and 27 right handed) first year medical students were selected. They were trained for different ...

  17. SU-E-P-51: Dosimetric Comparison to Organs at Risk Sparing Using Volumetric-Modulated Arc Therapy Versus Intensity-Modulated Radiotherapy in Postoperative Radiotherapy of Left-Sided Breast Cancer

    Energy Technology Data Exchange (ETDEWEB)

    Qiao, L; Deng, G [Department of Oncology, Shandong University School of Medicine, Jinan, Shandong (China); Xie, J; Cheng, J; Liang, N; Zhang, J [Department of Radiation Oncology, Qianfoshan Hospital Affiliated to Shandon, Jinan, Shandong (China); Zhang, J; Luo, H [Division of Oncology, Department of Graduate, Weifang Medical College, 2610, Jinan, Shandong (China)

    2015-06-15

    Purpose: To compare the dosimetric characteristics of volumetric-modulated arc therapy (VMAT) and intensity-modulated radiotherapy (IMRT) techniques in treatment planning for left-sided breast cancer patients with modified radical mastectomy. Methods: Twenty-four left-sided breast cancer patients treated with modified radical mastectomy were selected in this study. The planning target volume (PTV) was generated by using 7-mm uniform expansion of the clinical target volume (CTV) in all direction except the skin surface. The organs at risk (OARs) included heart, left lung, right lung, and right breast. Dose volume histograms (DVHs) were utilized to evaluate the dose distribution in PTV and OARs. Results: Both VMAT and IMRT plans met the requirement of PTV coverage. VMAT was superior to IMRT in terms of conformity, with a statistically significant difference (p=0.024). Mean doses, V5 and V10 of heart and both lungs in VMAT plans were significantly decreased compared to IMRT plans (P<0.05), but in terms of heart volume irradiated by high doses (V30 and V45), no significant differences were observed (P>0.05). For right breast, VMAT showed the reduction of V5 in comparison with IMRT (P<0.05). Additionally, the mean number of monitor units (MU) and treatment time in VMAT (357.21, 3.62 min) were significantly less than those in IMRT (1132.85, 8.74 min). Conclusion: VMAT showed similar PTV coverage and significant advantage in OARs sparing compared with IMRT, especially in terms of decreased volumes irradiated by low doses, while significantly reducing the treatment time and MU number.

  18. Photonic crystal with left-handed components

    CERN Document Server

    Markos, Peter

    2015-01-01

    We show that the periodic array of left-handed cylinders possesses a rich spectrum of guided modes when the negative permeability of cylinders equals exactly to minus value of permeability of embedding media. These resonances strongly influences propagation of electromagnetic waves through photonic structures made from left-handed materials. A series of Fano resonances excited by incident wave destroys the band frequency spectrum of square array of left-handed cylinders and increases considerably the absorption of transmitted waves.

  19. Left handedness and Leadership in Interactive Contests

    CERN Document Server

    Mukherjee, Satyam

    2013-01-01

    Left-handedness is known to provide an advantage at top level at many sports involving interactive contests. Earlier studies revealed that this is because of the innate superiority of left-handed contestants. Again, most of the renowned leaders of the world are known to have been left-handed. We analyze the data of batting and bowling performance in Cricket and verify the advantage of left-handedness for batsmen. For bowlers, left-handedness provide no advantage. Leadership play an important role in politics, sports and mentorship. In this paper we show that Cricket captains who bat left-handed have a strategic advantage over the right-handed captains in Test cricket. Our results demonstrate that critical importance of left-handedness and successful leadership. Our study shows that left-handed captains lead in more number of games and are significantly more successful than right-handed captains . Interestingly left-handed captains have a higher batting average than the right-handed counterparts, perhaps indic...

  20. Anarchy, socialism and a Darwinian left.

    Science.gov (United States)

    Clarke, Ellen

    2006-03-01

    In A Darwinian left Peter Singer aims to reconcile Darwinian theory with left wing politics, using evolutionary game theory and in particular a model proposed by Robert Axelrod, which shows that cooperation can be an evolutionarily successful strategy. In this paper I will show that whilst Axelrod's model can give support to a kind of left wing politics, it is not the kind that Singer himself envisages. In fact, it is shown that there are insurmountable problems for the idea of increasing Axelrodian cooperation within a welfare state. My surprising conclusion will be that a Darwinian left worthy of the name would be anarchistic.

  1. Left-sided omental torsion: CT appearance

    Energy Technology Data Exchange (ETDEWEB)

    Aoun, N.; Haddad-Zebouni, S.; Slaba, S.; Ghossain, M. [Hotel-Dieu de France Hospital, Beirut (Lebanon). Dept. of Radiology; Noun, R. [Hotel-Dieu de France Hospital, Beirut (Lebanon). Dept. of General Surgery

    2001-01-01

    A 34-year-old male presented with exquisite left flank pain. Computed tomography showed a hyperdense vascular structure surrounded by whirling linear streaks situated in the greater omentum under the splenic flexure of the colon. Omental stranding extended caudally into the pelvis where part of the inflamed omentum entered a left inguinal hernia sac. Surgery revealed left-sided torsion of the greater omentum. Left-sided omental torsion is infrequent and pre-operative diagnosis is rarely established. The CT findings of an omental fatty mass with a whirling pattern is characteristic of omental torsion. Preoperative diagnosis is important because conservative management has been suggested. (orig.)

  2. Cilia in vertebrate left-right patterning.

    Science.gov (United States)

    Dasgupta, Agnik; Amack, Jeffrey D

    2016-12-19

    Understanding how left-right (LR) asymmetry is generated in vertebrate embryos is an important problem in developmental biology. In humans, a failure to align the left and right sides of cardiovascular and/or gastrointestinal systems often results in birth defects. Evidence from patients and animal models has implicated cilia in the process of left-right patterning. Here, we review the proposed functions for cilia in establishing LR asymmetry, which include creating transient leftward fluid flows in an embryonic 'left-right organizer'. These flows direct asymmetric activation of a conserved Nodal (TGFβ) signalling pathway that guides asymmetric morphogenesis of developing organs. We discuss the leading hypotheses for how cilia-generated asymmetric fluid flows are translated into asymmetric molecular signals. We also discuss emerging mechanisms that control the subcellular positioning of cilia and the cellular architecture of the left-right organizer, both of which are critical for effective cilia function during left-right patterning. Finally, using mosaic cell-labelling and time-lapse imaging in the zebrafish embryo, we provide new evidence that precursor cells maintain their relative positions as they give rise to the ciliated left-right organizer. This suggests the possibility that these cells acquire left-right positional information prior to the appearance of cilia.This article is part of the themed issue 'Provocative questions in left-right asymmetry'. © 2016 The Author(s).

  3. Left atrial systolic force in hypertensive patients with left ventricular hypertrophy: the LIFE study

    DEFF Research Database (Denmark)

    Chinali, M.; Simone, G. de; Wachtell, K.;

    2008-01-01

    systolic force and left ventricular geometry and function have not been investigated in high-risk hypertrophic hypertensive patients. Participants in the Losartan Intervention For Endpoint reduction in hypertension echocardiography substudy without prevalent cardiovascular disease or atrial fibrillation (n......In hypertensive patients without prevalent cardiovascular disease, enhanced left atrial systolic force is associated with left ventricular hypertrophy and increased preload. It also predicts cardiovascular events in a population with high prevalence of obesity. Relations between left atrial...... with larger left ventricular diameter and higher left ventricular mass index (both P ventricular hypertrophy was greater (84 vs. 64%; P

  4. 椎动脉发育不良与胚胎型大脑后动脉%Vertebral artery hypoplasia and fetal posterior cerebral artery

    Institute of Scientific and Technical Information of China (English)

    杨丽娟; 吕慧灵; 柳海斌; 李欢

    2015-01-01

    Objective To study the incidence of vertebral artery hypoplasia and the coexistant ver‐tebral artery hypoplasia and fetal posterior cerebral artery ratio .Methods Six hundred and eight patients screened from the 13298 people undergoing physical examination were divided into obser‐vation group (n=306) and control group (n=302) .The detection rate of fetal posterior cerebral artery in 2 groups was analyzed .Results Vertebral artery hypoplasia was detected in 1342 out of the 13298 patients with an incidence of 10 .1% .Coexistant vertebral artery hypoplasia and fetal posterior cerebral artery were detected in 150 patients of observation group with an incidence of 49 .0% and in 53 patients of control group with an incidence of 17 .5% .The detection rate of fetal posterior cerebral artery was significantly higher in observation group than in control group (P<0 .01) .Conclusion Vertebral artery hypoplasia is not uncommon and is usually complicated by fe‐tal posterior cerebral artery .%目的:研究椎动脉发育不良的发生率以及椎动脉发育不良与胚胎型大脑后动脉合并存在的概率。方法在颈动脉超声检查的13298例受检者中,筛选出行头颅磁共振血管成像检查,且入住神经内科病房的患者608例,将椎动脉内径≤2.5 m m或双侧管径不对称>50%以上定义为椎动脉发育不良。胚胎型大脑后动脉包括完全型胚胎型大脑后动脉和部分型胚胎型大脑后动脉。将存在单侧或双侧椎动脉发育不良的患者306例作为观察组,无椎动脉发育不良的患者302例作为对照组,分析2组间胚胎型大脑后动脉的检出率。结果13298例患者中,检出椎动脉发育不良患者1342例,椎动脉发育不良的发生率为10.1%;观察组患者合并胚胎型大脑后动脉的患者150例,检出率49.0%,其中完全型胚胎型大脑后动脉109例,部分型胚胎型大脑后动脉30例;对照组合并胚

  5. Left-Handers and Cognitive Proficiency.

    Science.gov (United States)

    Wellman, Mary M.

    In this research report, the influences of handedness, hand position while writing, and familial sinistrality (presence of left-handed relatives) on children's intellectual, reading, and visual-motor performance were investigated. Forty left- and right-handed children between the ages of 7 and 10 served as subjects. To assess hand positions, an…

  6. A Note on Left Regular Semiring

    Directory of Open Access Journals (Sweden)

    N. Sulochana

    2016-08-01

    Full Text Available In this paper we have focused on the additive and multiplicative identity „e‟ and determine the additive and multiplicative semigroups. Here we established that, A semiring S in which (S, + and (S, • are left singular semigroups, then S is a left regular semiring. We have framed an example for this proposition by considering a two element set

  7. Pure Left Neglect for Arabic Numerals

    Science.gov (United States)

    Priftis, Konstantinos; Albanese, Silvia; Meneghello, Francesca; Pitteri, Marco

    2013-01-01

    Arabic numerals are diffused and language-free representations of number magnitude. To be effectively processed, the digits composing Arabic numerals must be spatially arrangspan>ed along a left-to-right axis. We studied one patient (AK) to show that left neglect, after right hemisphere damage, can selectively impair the computation of the spatial…

  8. Pure Left Neglect for Arabic Numerals

    Science.gov (United States)

    Priftis, Konstantinos; Albanese, Silvia; Meneghello, Francesca; Pitteri, Marco

    2013-01-01

    Arabic numerals are diffused and language-free representations of number magnitude. To be effectively processed, the digits composing Arabic numerals must be spatially arranged along a left-to-right axis. We studied one patient (AK) to show that left neglect, after right hemisphere damage, can selectively impair the computation of the spatial…

  9. Left Paraduodenal Hernia: An Autopsy Case

    DEFF Research Database (Denmark)

    Omland, Silje Haukali; Hougen, Hans Petter

    2011-01-01

    We present a case of a left paraduodenal hernia diagnosed at autopsy. A left paraduodenal hernia is an internal hernia of congenital origin due to the abnormal rotation of the midgut during embryonic development. Internal hernias are a rare cause of intestinal obstruction, with the paraduodenal...

  10. Variant course of left gonadal artery

    Directory of Open Access Journals (Sweden)

    Mamatha Y

    2010-08-01

    Full Text Available The variations of the arteries that develop from the mesonephric arteries, including renal, gonadal and suprarenal arteries are common. Variations in the anatomical relationship of the gonadal arteries to the renal vessels are frequently reported. We here present a case of an unusual origin and course of a left testicular artery arching over left renal vein. The arching of the left testicular artery over the left renal vein could be a possible cause of the left renal vein compression. Therefore, knowledge of the possible existence of arching gonadal vessels in relation to the renal vein could be of paramount importance to vascular surgeons and urologists during surgery in the retroperitoneal region.

  11. VARIATION IN THE OPENINGS (OSTIA OF LEFT PULMONARY VEINS INTO THE LEFT ATRIUM: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sesi

    2015-03-01

    Full Text Available During early embryonic development, absorption of pulmonary venous network by the left primitive atrial chamber results in opening of four pulmonary veins which drain independently into its chamber. The extent of absorption and hence, the number of pulmon ary veins which open into the left atrium, may vary. Here we report a variation in the opening of the Left upper (superior pulmonary vein into the Left atrium. A total of six openings observed

  12. A giant left main trunk and left circumflex artery-to-right ventricle fistula

    Directory of Open Access Journals (Sweden)

    Zhao-hui Peng

    2014-01-01

    Full Text Available Coronary artery fistula including the left trunk and left circumflex is uncommon. We present a 24-year-old male patient with a giant left main trunk and left circumflex artery to right ventricle fistula, which is diagnosed by transthoracic echocardiography and coronary computed tomography angiography. In this paper, the case report is to provide a better understanding of clinical characteristics for this disease.

  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. TMS over the Left Angular Gyrus Impairs the Ability to Discriminate Left from Right

    Science.gov (United States)

    Hirnstein, Marco; Bayer, Ulrike; Ellison, Amanda; Hausmann, Markus

    2011-01-01

    The underlying cognitive and neural mechanisms of the ability to discriminate left from right are hardly explored. Clinical studies from patients with impairments of left-right discrimination (LRD) and neuroimaging data suggest that the left angular gyrus is particularly involved in LRD. Moreover, it is argued that the often reported sex…

  15. Effect of vertebral artery hypoplasia on the territory-related perfusion of posterior inferior cerebellar artery%椎动脉发育不全对小脑后下动脉供血区脑灌注的影响

    Institute of Scientific and Technical Information of China (English)

    马乾坤; 张道培; 张杰文; 张淑玲; 鹿桂凤; 尹所

    2016-01-01

    目的:探讨椎动脉发育不全(vertebral artery hypoplasia,VAH )对小脑后下动脉供血区脑灌注的影响。方法选择2014-12—2015-07年龄≥30岁并行头颅磁共振灌注成像和头颈部三维对比增强磁共振血管造影检查的头晕或眩晕患者244例。获脑血流量(CBF)、脑血容量(CBV)、平均通过时间(MTT)和达峰时间(TTP)灌注图,测量一侧小脑后下动脉供血区及对侧镜像区的灌注参数值(CBF、CBV、MTT、TTP),计算椎动脉直径较小侧/对侧镜像区的灌注参数相对比值(rCBF、rCBV、rMTT、rTTP)。定义 VAH 为椎动脉直径≤2 mm,或双侧椎动脉不对称比≥1.7:1,分为 VAH 组和 non-VAH(Non-hypoplasitic vertebral artey)组,对临床资料和小脑、延髓灌参数相对比值进行比较。结果共纳入114例患者,男女各57例;VAH 组31例(27.2%),左侧5例(16%),右侧26例(84%);Non-VAH 组83例。2组间 VA 直径较小侧与对侧的 rTTP和 rCBF≤0.85的例数存在显著统计学差异(P 值分别为0.005,0.031);rCBF 倾向于有统计学差异(P =0.098);rCBV、rMTT 及 rCBV≤0.85例数无显著统计学差异。结论VAH 可以造成小脑后下动脉供血区域低灌注改变,且以 TTP 延长或 CBF 降低为主。%Objective To investigate the effect of vertebral artery hypoplasia on the territory perfusion of posterior inferi-or cerebellar artery (PICA).Methods 244 patients with vertigo or dizziness (age≥30 years old)from December 2014 to July 201 5 were selected as subjects who underwent brain perfusion-weighted imaging (pWI)and three-dimensional dynamic con-trast-enhanced MRA (3D DCE-MRA).The perfusion figures of cerebral blood flow(CBF),cerebral blood volume(CBV),mean transit time(MTT)and time to peak(TTP)were obtained.The perfusion parameters including CBF,CBV,MTT and TTP val-ues were measured at PICA areas and at the opposite mirror-imaging areas.Relative perfusion parameter values (rCBF,rCBV, rMTT and rTTP)defined as the ratio of the

  16. Changes of Left Ventricular Geometry Shape and Left Ventricular Regional Function in Patients With Dilated Cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Liang-yu WANG; Ming-xing XIE; Qing-bo LI; Ping CHEN; Zhi-xiong CAI; Zhi-dan ZHU

    2009-01-01

    Objectives To assess the left ventricle regional systolic and diastolic function, left ventricle geometry and left venti-tie sphericity indexes in patients with dilated cardiomyopathy (DCM) by quantitative tissue velocity imaging (QTVI). Methods Thirty normal subjects and 52 DCM patients underwent QTVI and colour Doppler flow imaging study in or-der to measure the left ventricular regional function along left ventricle apical long-axis view and the left ventricle geom-etry. Peak tissue velocities of left venticle regional muscular tissue during systole (Vs), systolic acceleration (a), ear-ly diastole(Ve) and left atrium contraction(Va) along left venticle apical long axis view were measured. The indexes of left ventdcular regional systolic and diastolic function were mearsured at the same time. The left ventricle geometry shape was reflected from the systolic and diastolic sphericity index (Sis and Sid), the left ventricular ejection fraction (LVEF) and D wave/A wave (PVd/Pva) of pulmonary veins flowing spectrum reflected the global left ventricular systolic and diastolic function. The Vs, Ve, Va, a, PVd/Pva ratio, LVEF, Sis, Sid and their correlations between normal subjects and patients with DCM were compared and analyzed. Results Vs, Ve, Va, a, PVd/Pva, Sis and Sid in patients with DCM were lower than those in normal persons. There were significant relations between Sis and a (r=0.6142, P<0.05), Ve/Va and Sid (r=0.6271, P<0.05). Conclusions QTVI offer a newer method which has a higher sensitivity and accuracy in evaluating the left venticle regional systolic and diastolic function in DCM patients. There was significant relation between regional cardiac function and left venticle sphericity.

  17. Vertebral Artery Hypoplasia and Posterior Circulation Ischemic Stroke:from Hypothesis to Pathogenesis%椎动脉发育不良与后循环缺血性卒中:从假说到发病机制

    Institute of Scientific and Technical Information of China (English)

    俞越; 徐子奇; 罗本燕

    2014-01-01

    Vertebral artery hypoplasia is a frequent vascular variation of posterior circulation. Emerging evidence suggests that vertebral artery hypoplasia is a risk factor of posterior circulation ischemic stroke, with a morphological correlation between them. This article reviews research progress of vertebral artery hypoplasia and its role in posterior circulation ischemic stroke in order to promote optimization during clinical decision making.%椎动脉发育不良是临床常见的后循环血管变异。已有的研究结果显示,椎动脉发育不良是后循环缺血性卒中的危险因素,并与之存在区域性关联。椎动脉发育不良在后循环缺血性卒中的发生发展中起到重要作用。本文对椎动脉发育不良与后循环缺血性卒中之间的关系以及潜在的发病机制进行综述,以期为后循环缺血性卒中的科学预防和临床治疗提供参考。

  18. Treatment of Hypoplasia of Uterus by Zhugong Capsule:A Clinical Observation of 60 Cases%助宫胶囊治疗子宫发育不良症60例疗效观察

    Institute of Scientific and Technical Information of China (English)

    翟凤霞; 杨传标; 张爱芳

    2001-01-01

    Objective:To observe the clinical effect of Zhugong Capsule (ZGC) on hypoplasia of uterus.Methods:60 cases of hypoplasia of uterus were treated by ZGC,and 30 cases by stibestrol as control,and the curative effect was compared between two groups.Results: The total effective rate of ZGC group and control group was 90% and 70% respectively (P<0.05).Conclusion:ZGC can improve the development of uterus and alleviate deficiency kidney -yang symptoms,showing a definite effect on hypoplasia of uterus.%目的:观察助宫胶囊治疗肾阳虚型子宫发育不良症的临床疗效。方法:应用助宫胶囊治疗60例肾阳虚型子宫发育不良症,并与己烯雌酚治疗30例对照,比较2组治疗效果。结果:治疗组总有效率90%,对照组总有效率70%,2组比较,差异有显著性意义(P<0.05)。结论:助宫胶囊能够促进子宫发育,改善肾阳虚症状,治疗子宫发育不良症有确切疗效。

  19. [Social aspects of left-handedness].

    Science.gov (United States)

    Milenković, Sanja; Belojević, Goran; Kocijancić, Radojka

    2010-01-01

    Throughout human history left-handedness has been considered as sinful. It has been associated with the devil, weakness, female gender, unhealthiness, evil, something that has to be turned to a "good"--right side by force. Left-handedness is being more and more acceptable at rational level, but in everyday life it is still considered to be unusual if someone writes with the left hand. Lessening of the number of lefthanders is associated with ageing. There are about 13% lefthanders among people in twenties and less than 1% lefthanders among those in eighties. This finding may be explaned with more pronounced socio-cultural pressure on left-handed people in the past, compared to nowadays. On the other hand, this may also support the hypothesis about a reduced life span of lefthanded people. With cross-exercising of left-handedness, certain typical characteristics and behavioural patterns appear in these people. This was a sort of provoked behaviour and an attack on the integrity of an emotional attitude toward oneself. Stuttering may also appear as a consequence of unsuccessful cross-exercising of left-handedness. The hypothesis about left-handedness as an advantage is supported with the reports about relatively more lefthanders in some specific groups such as: mathematicians, sculptors, architects, painters, musicians, actors, tennis players, as well as famous army commanders and rulers.

  20. Social aspects of left-handedness

    Directory of Open Access Journals (Sweden)

    Belojević Goran

    2010-01-01

    Full Text Available Throughout human history left-handedness has been considered as sinful. It has been associated with the devil, weakness, female gender, unhealthiness, evil, something that has to be turned to a “good” - right side by force. Left-handedness is being more and more acceptable at rational level, but in everyday life it is still considered to be unusual if someone writes with the left hand. Lessening of the number of lefthanders is associated with ageing. There are about 13% lefthanders among people in twenties and less than 1% lefthanders among those in eighties. This finding may be explaned with more pronounced socio-cultural pressure on left-handed people in the past, compared to nowadays. On the other hand, this may also support the hypothesis about a reduced life span of lefthanded people. With cross-exercising of left-handedness, certain typical characteristics and behavioral patterns appear in these people. This was a sort of provoked behavior and an attack on the integrity of an emotional attitude toward oneself. Stuttering may also appear as a consequence of unsuccessful cross-exercising of left-handedness. The hypothesis about left-handedness as an advantage is supported with the reports about relatively more lefthanders in some specific groups such as: mathematicians, sculptors, architects, painters, musicians, actors, tennis players, as well as famous army commanders and rulers.

  1. Surgical Treatment of Left Ventricular Pseudoaneurysm

    Science.gov (United States)

    Mujanovic, Emir; Bergsland, Jacob; Avdic, Sevleta; Stanimirovic-Mujanovic, Sanja; Kovacevic-Preradovic, Tamara; Kabil, Emir

    2014-01-01

    Introduction: Left ventricular pseudoaneurysm is a rare condition because in most instances ventricular free-wall rupture leads to fatal pericardial tamponade. Rupture of the free wall of the left ventricle is a cata­strophic complication of myocardial infarction, occurring in approximately 4% of pa­tients with infarcts, resulting in immediate collapse of the patient and electromechanical dissociation. In rare cases the rupture is contained by pericardial and fibrous tissue, and the result is a pseudoaneurysm. The left ventricular pseudoaneurysm contains only pericardial and fibrous elements in its wall-no myocardial tissue. Because such aneurysms have a strong tendency to rupture, this disorder may lead to death if it is left surgically untreated. Case report: In this case report, we present a patient who underwent successful repair of a left ventricular pseudoaneurysm, which followed a myocardial infarction that was caused by occlusion of the left circumflex coronary artery. Although repair of left ventricular pseudoaneurysm is still a surgical challenge, it can be performed with acceptable results in most patients. PMID:25568538

  2. Clinical psychomotor skills among left and right handed medical students: are the left-handed medical students left out?

    National Research Council Canada - National Science Library

    Alnassar, Sami; Alrashoudi, Aljoharah Nasser; Alaqeel, Mody; Alotaibi, Hala; Alkahel, Alanoud; Hajjar, Waseem; Al-shaikh, Ghadeer; Alsaif, Abdulaziz; Haque, Shafiul; Meo, Sultan Ayoub

    2016-01-01

    There is a growing perception that the left handed (LH) medical students are facing difficulties while performing the clinical tasks that involve psychomotor skill, although the evidence is very limited and diverse...

  3. Anomalous Feeding of the Left Upper Lobe.

    Science.gov (United States)

    Hazzard, Christopher; Itagaki, Shinobu; Lajam, Fouad; Flores, Raja M

    2016-09-01

    We report the case of a 53-year-old woman who presented with massive hemoptysis. Computed tomographic angiography revealed an anomalous vessel arising from the abdominal aorta, coursing anteriorly and through the diaphragm, and feeding the left upper lobe. At operation the vessel was found to anastomose to the left upper lobe lingula, which contained multiple vascular abnormalities and arteriovenous fistulas. The vessel was ligated, and the affected portion of the left upper lobe was resected. Anomalous systemic arterial supply of an upper lobe is an especially rare form of a Pryce type 1 abnormality. Recognition of these unusual anatomic variants is crucial to successful treatment and avoidance of adverse events.

  4. A re-evaluation of localized hypoplasia of the primary canine as a marker of craniofacial osteopenia in European Upper Paleolithic infants.

    Science.gov (United States)

    Skinner, M; Newell, E

    2000-01-01

    Localized hypoplasia of the primary canine (LHPC) occurs in prehistoric and contemporary populations with prevalence varying from 0 to 89%. One of the highest prevalences ever reported is Upper Paleolithic infants from Europe where 70% are affected. In that LHPC is found in relatively high proportions of contemporary children with reported or suspected malnutrition, it is important to investigate the etiology of LHPC. Previous research indicates that LHPC occurs in two steps: craniofacial osteopenia results in temporary fenestration of the cortical bone overlying the primary canine crypt; secondly, minor physical trauma to the perioral region impacts on the unprotected forming tooth crown resulting in a small pit visible on the labial surface of the erupted tooth. Investigation of the prenatal diet of mothers whose children are shown later to have LHPC found mothers are significantly low in vitamin A. Hitherto an animal model for this problem has been lacking. Recently Newell and Skinner have recognized that LHPC occurs very commonly in orangutans. Recent study of infant jaws from Pongo pygmaeus (n=75) and Pan paniscus (n=39) shows all stages of fenestration and healing of the labial bone of the primary canine crypt. 85% of orangutan and 62% of bonobos show LHPC. Current research is directed at bioavailability of vitamin A to ape infants. LHPC is a marker of malnutrition; a common factor that could link orangutan and Upper Paleolithic mothers is low dietary fat intake. A minimal level of dietary fat is required for gut absorption of both vitamin A and carotenoids.

  5. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

    Science.gov (United States)

    Rogler, Leslie E; Kosmyna, Brian; Moskowitz, David; Bebawee, Remon; Rahimzadeh, Joseph; Kutchko, Katrina; Laederach, Alain; Notarangelo, Luigi D; Giliani, Silvia; Bouhassira, Eric; Frenette, Paul; Roy-Chowdhury, Jayanta; Rogler, Charles E

    2014-01-15

    Post-transcriptional processing of some long non-coding RNAs (lncRNAs) reveals that they are a source of miRNAs. We show that the 268-nt non-coding RNA component of mitochondrial RNA processing endoribonuclease, (RNase MRP), is the source of at least two short (∼20 nt) RNAs designated RMRP-S1 and RMRP-S2, which function as miRNAs. Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. SHAPE chemical probing identified two alternative secondary structures altered by disease mutations. RMRP-S1 and -S2 are significantly reduced in two fibroblast cell lines and a B-cell line derived from CHH patients. Tests of gene regulatory activity of RMRP-S1 and -S2 identified over 900 genes that were significantly regulated, of which over 75% were down-regulated, and 90% contained target sites with seed complements of RMRP-S1 and -S2 predominantly in their 3' UTRs. Pathway analysis identified regulated genes that function in skeletal development, hair development and hematopoietic cell differentiation including PTCH2 and SOX4 among others, linked to major CHH phenotypes. Also, genes associated with alternative RNA splicing, cell proliferation and differentiation were highly targeted. Therefore, alterations RMRP-S1 and -S2, caused by point mutations in RMRP, are strongly implicated in the molecular mechanism of CHH.

  6. An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

    Science.gov (United States)

    Vatanavicharn, N; Visitsunthorn, N; Pho-iam, T; Jirapongsananuruk, O; Pacharn, P; Chokephaibulkit, K; Limwongse, C; Wasant, P

    2010-01-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal-recessive disorder characterized by short-limbed dwarfism, sparse hair, and immune deficiency. It is caused by mutations in the RMRP gene, which encodes the RNA component of the mitochondrial RNA-processing ribonuclease (RNase MRP). Several mutations have been identified in its promoter region or transcribed sequence. However, homozygous mutations in the promoter region have been only reported in a patient with primary immunodeficiency without other features of CHH. We report on a Thai girl who first presented with chronic diarrhea, recurrent pneumonia, and severe failure to thrive, without apparently disproportionate dwarfism. The diagnosis of CHH was made after the severe wasting was corrected, and disproportionate growth became noticeable. The patient had the typical features of CHH, including sparse hair and metaphyseal abnormalities. The immunologic profiles were consistent with combined immune deficiency. Mutation analysis identified a novel homozygous mutation, g.-19_-25 dupACTACTC, in the promoter region of the RMRP gene. Identification of the mutation enabled us to provide a prenatal diagnosis in the subsequent pregnancy. This patient is the first CHH case with the characteristic features due to the homozygous mutation in the promoter region of the RMRP gene. The finding of severe immunodeficiency supports that promoter mutations markedly disrupt mRNA cleavage function, which causes cell-cycle impairment.

  7. A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.

    Science.gov (United States)

    Guilherme, R S; Cernach, M C S P; Sfakianakis, T E; Takeno, S S; Nardozza, L M M; Rossi, C; Bhatt, S S; Liehr, T; Melaragno, M I

    2013-01-01

    Constitutional complex chromosomal rearrangements (CCRs) are considered rare cytogenetic events. Most apparently balanced CCRs are de novo and are usually found in patients with abnormal phenotypes. High-resolution techniques are unveiling genomic imbalances in a great percentage of these cases. In this paper, we report a patient with growth and developmental delay, dysmorphic features, nervous system anomalies (pachygyria, hypoplasia of the corpus callosum and cerebellum), a marked reduction in the ossification of the cranial vault, skull base sclerosis, and cardiopathy who presents a CCR with 9 breakpoints involving 4 chromosomes (3, 6, 8 and 14) and a 0.6-Mb deletion in 14q24.1. Although the only genomic imbalance revealed by the array technique was a deletion, the clinical phenotype of the patient most likely cannot be attributed exclusively to haploinsufficiency. Other events must also be considered, including the disruption of critical genes and position effects. A combination of several different investigative approaches (G-banding, FISH with different probes and SNP array techniques) was required to describe this CCR in full, suggesting that CCRs may be more frequent than initially thought. Additionally, we propose that a chain chromosome breakage mechanism may have occurred as a single rearrangement event resulting in this CCR. This study demonstrates the importance of applying different cytogenetic and molecular techniques to detect subtle rearrangements and to delineate the rearrangements at a more accurate level, providing a better understanding of the mechanisms involved in CCR formation and a better correlation with phenotype.

  8. 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.

  9. 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.

  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. 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.

  12. Leptogenesis in left-right symmetric theories

    CERN Document Server

    Joshipura, A S; Rodejohann, W

    2001-01-01

    The masses and mixing of the light left-handed neutrinos can be related to those of the heavy right-handed neutrinos in left-right symmetric theories. Properties of the light neutrinos are measured in terrestrial experiments and the CP-violating decays of their heavy counterparts produce a baryon asymmetry via the well-known leptogenesis mechanism. The left-handed Higgs triplet, present in left-right symmetric theories, modifies the usual see-saw formula. It is possible to relate the lepton asymmetry to the light neutrino parameters when the triplet and the top quark through the usual see-saw mechanism give dominant contribution to the neutrino mass matrix. We find that in this situation the small angle MSW and vacuum solutions produce reasonable asymmetry, whereas the large angle MSW case requires extreme fine-tuning of the three phases in the mixing matrix.

  13. Leptogenesis in left-right symmetric theories

    Energy Technology Data Exchange (ETDEWEB)

    Joshipura, Anjan S. E-mail: anjan@prl.ernet.in; Paschos, Emmanuel A. E-mail: paschos@physik.uni-dortmund.de; Rodejohann, Werner E-mail: rodejoha@xena.physik.uni-dortmund.de

    2001-09-17

    The masses and mixing of the light left-handed neutrinos can be related to those of the heavy right-handed neutrinos in left-right symmetric theories. Properties of the light neutrinos are measured in terrestrial experiments and the CP-violating decays of their heavy counterparts produce a baryon asymmetry via the well-known leptogenesis mechanism. The left-handed Higgs triplet, present in left-right symmetric theories, modifies the usual see-saw formula. It is possible to relate the lepton asymmetry to the light neutrino parameters when the triplet and the top quark through the usual see-saw mechanism give the dominant contribution to the neutrino mass matrix. We find that in this situation the small angle MSW and vacuum solutions produce reasonable asymmetry, whereas the large angle MSW case requires extreme fine-tuning of the three phases in the mixing matrix.

  14. Left-right symmetry and neutrino stability

    Energy Technology Data Exchange (ETDEWEB)

    Akhmedov, E.K. [Valencia Univ. (Spain). Dept. de Fisica Teorica; Joshipura, A.S. [Valencia Univ. (Spain). Dept. de Fisica Teorica; Ranfone, S. [Valencia Univ. (Spain). Dept. de Fisica Teorica; Valle, J.W.F. [Valencia Univ. (Spain). Dept. de Fisica Teorica

    1995-05-08

    We consider a left-right symmetric model in which neutrinos acquire mass due to the spontaneous violation of both the gauged B-L and a global U(1) symmetry broken by the vacuum expectation value (VEV) of a gauge singlet scalar boson left angle {sigma} right angle . For suitable choices of left angle {sigma} right angle consistent with all laboratory and astrophysical observations neutrinos will be unstable against majoron emission. All neutrino masses in the keV to MeV range are possible, since the expected neutrino decay lifetimes can be short enough to dilute their relic density below the cosmologically required level. A wide variety of possible new phenomena, associated to the presence of left-right symmetry and/or the global symmetry at the TeV scale, could therefore be observable, without conflict with cosmology. The latter includes the possibility of invisibly decaying higgs bosons, which can be searched at LEP, NLC and LHC. ((orig.)).

  15. Case series: Congenital left ventricular diverticulum

    Directory of Open Access Journals (Sweden)

    Shah Dharita

    2010-01-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  16. Laparoscopic vs open left hepatectomy for hepatolithiasis

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    AIM: To explore the feasibility and therapeutic effect of total laparoscopic left hepatectomy (LLH) for hepatolithiasis. METHODS: From June 2006 to October 2009, 61 consecutive patients with hepatolithiasis who met the inclusion criteria for LLH were treated in our institute. Of the 61 patients with hepatolithiasis, 28 underwent LLH (LLH group) and 33 underwent open left hepatectomy (OLH group). Clinical data including operation time, intraoperative blood loss, postoperative complication rate, postoperative...

  17. Aneurysm of the left main coronary artery

    Directory of Open Access Journals (Sweden)

    Ênio E. Guérios

    2000-12-01

    Full Text Available Aneurysm of the left main coronary artery is a rare angiographic finding, with few cases described in the international literature. We report the case of a 42-year-old male with a previous history of acute myocardial infarction, whose coronariography indicated triple vessel coronary disease and an aneurysm of the left main coronary artery. A review of the etiology, clinical aspects, and surgical management of coronary arterial aneurysm is presented.

  18. Congenital left atrial appendage aneurysm: Atypical presentation

    Directory of Open Access Journals (Sweden)

    Mehdi Bamous

    2017-01-01

    Full Text Available Congenital left atrial appendage aneurysm is a rare condition caused by dysplasia of the atrial muscles. We report a case of a 14-year-old boy, with a 5-month history of cough and in sinus rhythm. Transthoracic echocardiography and computerized tomographic angiography confirmed the aneurysm of the left atrial appendage which was resected through median sternotomy on cardiopulmonary bypass. This case is presented not only for its rarity but also for its atypical clinical presentation.

  19. Thoracoscopic Left Splanchnicectomy: Two Trocar Technique

    OpenAIRE

    George Jinescu; Ion Lica; Septimiu Andrei; Cornelia Chidiosan; Mihnea Dinu

    2014-01-01

    Background: Abdominal hyperalgic syndrome in unresectable pancreatic cancer worsens the quality of patients' life. The goal of this article is to evaluate the feasibility of performing the left splanchnicectomy using a two trocar thoracoscopic approach. Material and Methods: One patient suffering from intractable pain due to unresectable pancreatic cancer (stage IV) with liver metastasis underwent thoracoscopic unilateral left splanchnicectomy. The procedure was performed using only two troca...

  20. Left △-Product Structure of Left C-Wrpp Semigroups%左G-Wrpp半群的左△-积

    Institute of Scientific and Technical Information of China (English)

    张晓敏

    2009-01-01

    We study another structure of so-called left C-wrpp semigroups.In particular,the concept of left △-product is extended and enriched.The aim of this paper is to give a construction of left C-wrpp semigroups by a left regular band and a strong semilattice of left-R cancellative monoids.Properties of left C-wrpp semigroups endowed with left △-products are particularly investigated.

  1. Left ventricular performance during triggered left ventricular pacing in patients with cardiac resynchronization therapy and left bundle branch block

    DEFF Research Database (Denmark)

    Witt, Christoffer Tobias; Kronborg, Mads Brix; Nohr, Ellen Aagaard;

    2016-01-01

    PURPOSE: To assess the acute effect of triggered left ventricular pacing (tLVp) on left ventricular performance and contraction pattern in patients with heart failure, left bundle branch block (LBBB), and cardiac resynchronization therapy (CRT). METHODS: Twenty-three patients with pre-implant QRS...... conduction, tLVp, and BiV pacing and compared as paired data. Echocardiographic analysis was done blinded with respect to pacing mode. RESULTS: LVEF was significantly higher during BiV pacing (47 ± 11 %) compared with intrinsic conduction (43 ± 13 %, P = 0.001) and tLVp (44 ± 13 %, P = 0.001), while......V pacing. CONCLUSIONS: The acute effect of tLVp on LV systolic function and contraction pattern is significantly lower than the effect of BiV pacing and not different from intrinsic conduction in patients with LBBB and CRT....

  2. What is Beyond Right/Left?

    DEFF Research Database (Denmark)

    Dyrberg, Torben Bech

    2009-01-01

    The article looks at New Labour's move beyond right/left in the mid/late 1990s, which is an occasion to spell out the nature of right/left and what it means for democracy. In contrast to both defenders and critics of this move I argue in the first part that right/left is not an empty label bound up...... with the cleavage-lines of industrial society, but that it is an orientational metaphor which is articulated with others-in/out, up/down and front/back-and that we are in the process of moving beyond the industrial society right/left prototype. The second part looks at where New Labour is heading when moving beyond...... right/left. I argue that the new hegemonic orientation is that of front/back, which designs political renewal as a response to the social changes cutting across the outdated lines of contestation of partisan politics. The democratic problem of this move lies in squeezing politics between technocratic...

  3. 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.

  4. End-stage kidney disease probably due to reflux nephropathy with segmental hypoplasia (Ask-Upmark kidney) in young Boxer dogs in Norway. A retrospective study.

    Science.gov (United States)

    Kolbjørnsen, O; Heggelund, M; Jansen, J H

    2008-07-01

    This paper is a retrospective morphologic study of 7 young Boxer dogs, showing end-stage kidney lesions compatible with chronic pyelonephritis with severe segmental cortical atrophy and fibrosis, associated with chronic tubulointerstitial inflammation of varying degree. Azotemia was observed in 6 of the 7 cases. The gross kidney lesions were as follows: bilateral small kidneys with numerous segmental cortical scars causing depression of the renal cortical surface. Histologic examination revealed salient atrophy of nephrons, including paucity of glomeruli, glomerulocystic lesions, colloid-filled tubular microcysts, and a conspicuously increased occurrence of arteries with narrowed lumina caused by intimal thickening. These segmental abnormalities were accompanied by pronounced interstitial fibrosis. All but 1 dog showed salient tubulointerstitial lympho-plasmacytic infiltration, which in 3 cases also included diffuse infiltration of polymorphonuclear neutrophilic leukocyte (PMN)-cells and occurrence of tubular PMN-casts. Morphologic signs of abnormal metanephric differentiation (renal dysplasia) were observed in all cases in the form of atypical tubules or asynchronous nephronic development (immature glomeruli) or both. However, other morphologic primary dysplastic features were absent. Based on the morphologic features, it is concluded that the end-stage kidney disease in these young Boxer dogs was the result of chronic atrophic nonobstructive pyelonephritis, most probably caused by vesico-ureteral reflux, compatible with reflux nephropathy causing segmental hypoplasia (Ask-Upmark kidney) in man. It is proposed that atypical tubular epithelium in the form of adenomatoid proliferation of collecting duct epithelial cells should be considered an acquired compensatory lesion, rather than the result of disorganized metanephric development.

  5. [Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion].

    Science.gov (United States)

    Palano, G M; Licata, F; Carpinato, C; Sottile, F; Sciuto, R; Mattina, T; Distefano, G

    2010-12-01

    This article reports the case of newborn with multiple dimorphisms (microcephaly, hypertelorism, wide and flat nasal bridge, small nose, long philtrum, microretrognathia, malformed and low-set ears, short neck, redundant nuchal skin, genital anomalies), admitted in the hospital after two days from delivery for torpor, poor food and cyanosis. Babies were affected, at color-Doppler echocardiography, by coarctation of the aorta (CoA) with aortic arch hypoplasia. CoA is often associated to genetic and environmental factors that interact frequently. In this study the anamnestic absence of teratogen noxae and the presence of facial and genital anomalies suggest a genetic study to provide appropriate genetic information to parents. G-banding chromosomic analysis revealed a 46, XX der 4t(4;11) karyotype with partial 11q trisomy confirmed with FISH chromosome painting 4;11 and with FISH subtelomere specific 4(p/q)11(p/q). These techniques showed that derivative chromosome 4 was constituted by chromosome 4 with partial deletion in the q35 region and by 11q21 translocation. This rare anomaly is often inherited by an unbalanced segregation of a balanced translocation, present in one of the two parents. In the present study, the father carried a t(4q;11q) balanced translocation. A CGH-array analysis was executed to the child for the breakpoints definition. As 11q trisomy cases reported in literature are still few, this case can contribute to improve our knowledge on the genotype-phenotype correlation in this rare genetic anomaly.

  6. The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

    Science.gov (United States)

    Vinograd-Byk, Hadar; Sapir, Tamar; Cantarero, Lara; Lazo, Pedro A; Zeligson, Sharon; Lev, Dorit; Lerman-Sagie, Tally; Renbaum, Paul; Reiner, Orly; Levy-Lahad, Ephrat

    2015-01-21

    Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly. We previously identified a nonsense mutation in Vaccinia-related kinase 1 (VRK1), R358X, as a cause of SMA-PCH. VRK1-R358X is a rare founder mutation in Ashkenazi Jews, and additional mutations in patients of different origins have recently been identified. VRK1 is a nuclear serine/threonine protein kinase known to play multiple roles in cellular proliferation, cell cycle regulation, and carcinogenesis. However, VRK1 was not known to have neuronal functions before its identification as a gene mutated in SMA-PCH. Here we show that VRK1-R358X homozygosity results in lack of VRK1 protein, and demonstrate a role for VRK1 in neuronal migration and neuronal stem cell proliferation. Using shRNA in utero electroporation in mice, we show that Vrk1 knockdown significantly impairs cortical neuronal migration, and affects the cell cycle of neuronal progenitors. Expression of wild-type human VRK1 rescues both proliferation and migration phenotypes. However, kinase-dead human VRK1 rescues only the migration impairment, suggesting the role of VRK1 in neuronal migration is partly noncatalytic. Furthermore, we found that VRK1 deficiency in human and mouse leads to downregulation of amyloid-β precursor protein (APP), a known neuronal migration gene. APP overexpression rescues the phenotype caused by Vrk1 knockdown, suggesting that VRK1 affects neuronal migration through an APP-dependent mechanism.

  7. Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

    Science.gov (United States)

    Schwabova, Jaroslava; Brozkova, Dana Safka; Petrak, Borivoj; Mojzisova, Mahulena; Pavlickova, Klara; Haberlova, Jana; Mrazkova, Lenka; Hedvicakova, Petra; Hornofova, Ludmila; Kaluzova, Marie; Fencl, Filip; Krutova, Marcela; Zamecnik, Josef; Seeman, Pavel

    2013-12-01

    Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency, causing death frequently before the age of 1 year. Recently, causative mutations in EXOSC3 were reported in a majority of PCH1 patients, but the detailed clinical phenotype caused by EXOSC3 mutations, genotype-phenotype correlations, and prevalent mutations in specific ethnic groups is not yet known. Three unrelated Czech Roma patients with PCH1 were investigated clinically, electrophysiologically, neuroradiologically, and neuropathologically (patients 1 and 2). The entire coding region of the EXOSC3 gene, including the adjacent intron sequences, was sequenced in all three patients. The same mutation c.92G→C, p.G31A in EXOSC3 was found in all three affected patients in homozygous state and in heterozygous state in the parents from two of the families. Haplotype analysis with four flanking microsatellite markers showed identical haplotype in 9 out of 11 haplotypes carrying the c.92G→C, p.G31A mutation. Furthermore, four heterozygotes for this mutation were found in anonymous DNA samples from 90 unrelated Roma individuals. All four of these samples shared the same haplotype. No heterozygous sample was found among 120 anonymous DNA samples from Czech non-Roma individuals with no familial relation. It may therefore be concluded that EXOSC3 c.92G→C, p.G31A mutation is a founder mutation with high prevalence among the Czech Roma causing a similar and particularly severe phenotype of PCH1. These observations from the Czech Roma may have consequences also for other Roma from other countries. PCH1 caused by EXOSC3 founder mutation c.92G→C, p.G31A extends the list of autosomal recessive disorders rare among the general population but more frequent among Roma at least in the Czech Republic.

  8. Treatment of left sided breast cancer for a patient with funnel chest: Volumetric-modulated arc therapy vs. 3D-CRT and intensity-modulated radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Haertl, Petra M., E-mail: petra.haertl@klinik.uni-regensburg.de [Department of Radiotherapy, Regensburg University Medical Center, Regensburg (Germany); Pohl, Fabian; Weidner, Karin; Groeger, Christian; Koelbl, Oliver; Dobler, Barbara [Department of Radiotherapy, Regensburg University Medical Center, Regensburg (Germany)

    2013-04-01

    This case study presents a rare case of left-sided breast cancer in a patient with funnel chest, which is a technical challenge for radiation therapy planning. To identify the best treatment technique for this case, 3 techniques were compared: conventional tangential fields (3D conformal radiotherapy [3D-CRT]), intensity-modulated radiotherapy (IMRT), and volumetric-modulated arc therapy (VMAT). The plans were created for a SynergyS® (Elekta, Ltd, Crawley, UK) linear accelerator with a BeamModulator™ head and 6-MV photons. The planning system was Oncentra Masterplan® v3.3 SP1 (Nucletron BV, Veenendal, Netherlands). Calculations were performed with collapsed cone algorithm. Dose prescription was 50.4 Gy to the average of the planning target volume (PTV). PTV coverage and homogeneity was comparable for all techniques. VMAT allowed reducing dose to the ipsilateral organs at risk (OAR) and the contralateral breast compared with IMRT and 3D-CRT: The volume of the left lung receiving 20 Gy was 19.3% for VMAT, 26.1% for IMRT, and 32.4% for 3D-CRT. In the heart, a D{sub 15%} of 9.7 Gy could be achieved with VMAT compared with 14 Gy for IMRT and 46 Gy for 3D-CRT. In the contralateral breast, D{sub 15%} was 6.4 Gy for VMAT, 8.8 Gy for IMRT, and 10.2 Gy for 3D-CRT. In the contralateral lung, however, the lowest dose was achieved with 3D-CRT with D{sub 10%} of 1.7 Gy for 3D-CRT, and 6.7 Gy for both IMRT and VMAT. The lowest number of monitor units (MU) per 1.8-Gy fraction was required by 3D-CRT (192 MU) followed by VMAT (518 MU) and IMRT (727 MU). Treatment time was similar for 3D-CRT (3 min) and VMAT (4 min) but substantially increased for IMRT (13 min). VMAT is considered the best treatment option for the presented case of a patient with funnel chest. It allows reducing dose in most OAR without compromising target coverage, keeping delivery time well below 5 minutes.

  9. Treatment of left sided breast cancer for a patient with funnel chest: volumetric-modulated arc therapy vs. 3D-CRT and intensity-modulated radiotherapy.

    Science.gov (United States)

    Haertl, Petra M; Pohl, Fabian; Weidner, Karin; Groeger, Christian; Koelbl, Oliver; Dobler, Barbara

    2013-01-01

    This case study presents a rare case of left-sided breast cancer in a patient with funnel chest, which is a technical challenge for radiation therapy planning. To identify the best treatment technique for this case, 3 techniques were compared: conventional tangential fields (3D conformal radiotherapy [3D-CRT]), intensity-modulated radiotherapy (IMRT), and volumetric-modulated arc therapy (VMAT). The plans were created for a SynergyS® (Elekta, Ltd, Crawley, UK) linear accelerator with a BeamModulator™ head and 6-MV photons. The planning system was Oncentra Masterplan® v3.3 SP1 (Nucletron BV, Veenendal, Netherlands). Calculations were performed with collapsed cone algorithm. Dose prescription was 50.4 Gy to the average of the planning target volume (PTV). PTV coverage and homogeneity was comparable for all techniques. VMAT allowed reducing dose to the ipsilateral organs at risk (OAR) and the contralateral breast compared with IMRT and 3D-CRT: The volume of the left lung receiving 20 Gy was 19.3% for VMAT, 26.1% for IMRT, and 32.4% for 3D-CRT. In the heart, a D(15%) of 9.7 Gy could be achieved with VMAT compared with 14 Gy for IMRT and 46 Gy for 3D-CRT. In the contralateral breast, D(15%) was 6.4 Gy for VMAT, 8.8 Gy for IMRT, and 10.2 Gy for 3D-CRT. In the contralateral lung, however, the lowest dose was achieved with 3D-CRT with D(10%) of 1.7 Gy for 3D-CRT, and 6.7 Gy for both IMRT and VMAT. The lowest number of monitor units (MU) per 1.8-Gy fraction was required by 3D-CRT (192 MU) followed by VMAT (518 MU) and IMRT (727 MU). Treatment time was similar for 3D-CRT (3 min) and VMAT (4 min) but substantially increased for IMRT (13 min). VMAT is considered the best treatment option for the presented case of a patient with funnel chest. It allows reducing dose in most OAR without compromising target coverage, keeping delivery time well below 5 minutes.

  10. Clinical analysis of cerebellar infarction with vertebral artery hypoplasia%伴椎动脉发育不良的小脑梗死临床分析

    Institute of Scientific and Technical Information of China (English)

    唐澍; 马志刚; 廖琴; 孙玉衡; 胡洪涛

    2016-01-01

    Objective To summarize the clinical features and vascular lesions in patients who suffered from cerebellar infarction with vertebral artery hypoplasia(VAH). Methods Retrospective analysis was used in the research. The selected patients suffered from cerebellar infarction with VAH or stenosis (stenosis rate≥50%). Seventy-one patients with cerebellar infarction were enrolled. There were 34 patients in VAH group and 37 patients in vertebral artery stenosis group. The age, sex, risk factors, clinical manifestations and characteristics of vascular examination were compared. Results The age, sex, risk factors between two groups had no significant differences (P>0.05). The scores of National Institutes of Health Stroke Scale (NIHSS) between two groups had no significant difference (P>0.05). The proportion of early neurological deterioration in VAH group (41.2%, 14/34) was higher than that in vertebral artery stenosis group (18.9%, 7/37), χ2=4.21, P<0.05. There were more patients with anterior circulation artery stenosis in the VAH group (35.3%, 12/34), compared with that in artery stenosis group (13.5%, 5/37),χ2=4.62, P<0.05. Except the ipsilateral vertebral artery, other arteries stenosis in VAH group (44.1%, 15/34) was significantly higher than that in vertebral artery stenosis group (13.5%, 5/37),χ2=8.20, P<0.05. Conclusions Cerebellar infarction with vertebral artery hypoplasia is more likely to have multiple cerebral arterial stenosis (stenosis rate ≥50%). The patients who suffered from cerebellar infarction with vertebral artery hypoplasia might be prone to early neurological deterioration.%目的:总结伴有椎动脉发育不良(VAH)的小脑梗死患者的临床特征和血管病变情况。方法采用回顾性分析方法,选择伴VAH和椎动脉粥样硬化狭窄率≥50%的初发小脑梗死患者,按照椎动脉病变分为VAH组(34例)和椎动脉狭窄组(椎动脉狭窄≥50%,37例),比较两组年龄、性别构成、危险

  11. [Left predominance of varices: myth or reality?].

    Science.gov (United States)

    Cornu-Thénard, A; Maraval, M; Boivin, P; Parpex, P

    1986-01-01

    The study of 843 legs operated for major varices shows that they are equally distributed between the two lower limbs (48.6% on the right, 51.4% on the left). There is little sex-determined variation in this distribution (410 women - 184 men), the main difference being that found in men: +4.6% on the left. Other studies carried out in Europe come to much the same conclusion. Two of these studies do, however, note a much clearer predominance of left-leg varices in men (+10%). For some studies, the lack of information about the type of varices being considered has proved troublesome (for example the many isolated telangiectasis and varices) and means that it is impossible to come to any exact conclusion. Clinical quantification is therefore desirable: at least it takes into account the diameter of the varices studied.

  12. Left-Wing Extremism: The Current Threat

    Energy Technology Data Exchange (ETDEWEB)

    Karl A. Seger

    2001-04-30

    Left-wing extremism is ''alive and well'' both in the US and internationally. Although the current domestic terrorist threat within the U. S. is focused on right-wing extremists, left-wing extremists are also active and have several objectives. Leftist extremists also pose an espionage threat to U.S. interests. While the threat to the U.S. government from leftist extremists has decreased in the past decade, it has not disappeared. There are individuals and organizations within the U.S. who maintain the same ideology that resulted in the growth of left-wing terrorism in this country in the 1970s and 1980s. Some of the leaders from that era are still communicating from Cuba with their followers in the U.S., and new leaders and groups are emerging.

  13. Probabilistic Parsing Using Left Corner Language Models

    CERN Document Server

    Manning, C D; Manning, Christopher D.; Carpenter, Bob

    1997-01-01

    We introduce a novel parser based on a probabilistic version of a left-corner parser. The left-corner strategy is attractive because rule probabilities can be conditioned on both top-down goals and bottom-up derivations. We develop the underlying theory and explain how a grammar can be induced from analyzed data. We show that the left-corner approach provides an advantage over simple top-down probabilistic context-free grammars in parsing the Wall Street Journal using a grammar induced from the Penn Treebank. We also conclude that the Penn Treebank provides a fairly weak testbed due to the flatness of its bracketings and to the obvious overgeneration and undergeneration of its induced grammar.

  14. Contrasting Assessments of the Latin American Left

    Directory of Open Access Journals (Sweden)

    Paul Lawrence Haber

    2011-01-01

    Full Text Available The ability of the Latin American electoral left to make substantial progress on the social justice agenda while in office is much disputed. Two significant schools of thought are identified: one generally sympathetic and the other critical. This essay explores this argument with reference to Brazil, El Salvador, and Bolivia. At the heart of the debate is the relationship between social movements and political parties of the left. Should social movements collaborate with political parties of the left? While the critics raise important questions and concerns that are useful to illuminate the limitations of gradualism they do not present a viable strategy forward. The article concludes with the observation that the nature of this collaboration is a worthy subject of serious debate and reform proposals.

  15. Gelastic seizures involving the left parietal lobe.

    Science.gov (United States)

    Machado, René Andrade; Astencio, Adriana Goicoechea

    2012-01-01

    Gelastic seizures have been described in various epilepsies arising from the temporal or frontal lobes, although the most commonly encountered form is related to the presence of a hypothalamic hamartoma. We describe a patient with gelastic seizures involving the left parietal lobe. Our patient, an 8-year-old girl, underwent interictal video/EEG monitoring and MRI. The seizures consisted of brief staring followed by smiling and laughing. Electroencephalography during the gelastic seizures showed rhythmic spikes and waves in the left parietal lobe. MRI revealed the characteristic features of focal cortical dysplasia. Our findings suggest that the left parietal lobe may actively participate in the particular epileptogenic network generating gelastic seizures. Copyright © 2011 Elsevier Inc. All rights reserved.

  16. Lone, Mobile Left Atrial Hydatid Cyst

    Science.gov (United States)

    Ugurlu, Mehmet; Baktir, Ahmet Oguz; Tekin, Ali Ihsan; Tok, Ahmet; Yagmur, Bayram

    2016-01-01

    Echinococcosis is endemic in various regions of Turkey. Cardiac involvement in echinococcosis is rare, and lone cardiac hydatid cysts are even more unusual. Because cardiac hydatid disease can be fatal, even asymptomatic patients are optimally referred for surgical treatment. We present a rare case of a lone, primary, mobile hydatid cyst in the left atrium of a 62-year-old woman. The cyst caused dyspnea from left ventricular inflow obstruction. In addition to reporting the patient's fatal case, we discuss cardiac hydatid cysts in terms of the scant medical literature. PMID:27303247

  17. Echocardiographic study of left atrial myxoma

    Directory of Open Access Journals (Sweden)

    Dalal J

    1979-01-01

    Full Text Available Four cases of left atrial myxoma were diagnosed pre-operatively by echocardiography. All cases showed characteristic echocardio-graphic features of variegated shadows behind the mitral valve in diastole and within the left atrium in systole. In two cases the my-xomas were surgically removed and confirmed on histology. In one case the post-operative echocardiogram showed complete dis-appearance of the abnormal shadows. Echocardiography is the most reliable method today for the diagnosis of a myxoma.

  18. Left paraduodenal hernias; Hernias paraduodenales izquierdas

    Energy Technology Data Exchange (ETDEWEB)

    Lopez-Negrete, L.; Garcia-Lozano, J.; Sanchez, J. L.; Tejeiro, A.; Sala, J. [Hospital Valle del Nalon. Riano-Sama. Asturias (Spain)

    2002-07-01

    We report two cases of left paraduodenal internal hernias located in the fossa of Landzert that were diagnosed by CT. Internal hernias are an infrequent cause of acute abdomen, due to the intestinal sub occlusion they produce. Left paraduodenal hernias are responsible for about 50% of internal hernias. CT makes it possible to demonstrate the group of herniated loops between the stomach, fourth segment of the duodenum, descending colon, and tail of the pancreas. The identification of the loops in an atypical position together with displaced blood vessels (mesenteric vessels) and colon gives concerns on them a typical radiological semiology that makes them easily identifiable. (Author) 9 refs.

  19. Left ventricular assist device implantation via left thoracotomy: alternative to repeat sternotomy.

    Science.gov (United States)

    Pierson, Richard N; Howser, Renee; Donaldson, Terri; Merrill, Walter H; Dignan, Rebecca J; Drinkwater, Davis C; Christian, Karla G; Butler, Javed; Chomsky, Don; Wilson, John R; Clark, Rick; Davis, Stacy F

    2002-03-01

    Repeat sternotomy for left ventricular assist device insertion may result in injury to the right heart or patent coronary grafts, complicating intraoperative and postoperative management. In 4 critically ill patients, left thoracotomy was used as an alternative to repeat sternotomy. Anastomosis of the outflow conduit to the descending thoracic aorta provided satisfactory hemodynamic support.

  20. Correlation of Left Atrial Diameter by Echocardiography and Left Atrial Volume by Computed Tomography

    NARCIS (Netherlands)

    Hof, Irene; Arbab-Zadeh, Armin; Scherr, Daniel; Chilukuri, Karuna; Dalal, Darshan; Abraham, Theodore; Lima, Joao; Calkins, Hugh

    2009-01-01

    Computed Tomography. Introduction: For patients undergoing catheter ablation of atrial fibrillation (AF), left atrial size is a predictor of recurrence of AF during follow-up. For this reason, major clinical trials have used a left atrial diameter (LAD) of more than 5.0 or 5.5 cm, assessed by echoca

  1. Left common basal pyramid torsion following left upper lobectomy/segmentectomy.

    Science.gov (United States)

    Wang, Wei-Li; Cheng, Yen-Po; Cheng, Ching-Yuan; Wang, Bing-Yen

    2015-05-01

    Lobar or segmental lung torsion is a severe complication of lung resection. To the best of our knowledge, common basal pyramid torsion has never been reported. We describe a case of left basal pyramid torsion after left upper lobectomy and superior segmentectomy, which was successfully treated by thoracoscopic surgery.

  2. Detection of Hypoplasia of Bony Cochlear Nerve Canal By Virtual Endoscopy:A Prilimitary Study%CT仿真内镜在诊断骨性蜗神经管发育不良中的初步应用

    Institute of Scientific and Technical Information of China (English)

    全勇; 巩若箴; 武乐斌; 樊兆民; 李建峰

    2013-01-01

    Objective To retrospectively examine the feasibility of computed tomographic (CT) virtual endoscopy(VE) in the evaluation of hypoplasia of bony cochlear nerve canal (BCNC) base on absence of helix like shape.Methods Twenty ears in 14 consecutive patients diagnosed with BCNC hypoplasia and 100 ears in 50 gender-and age-matched individuals without inner ear disease and internal auditory canal malformations were included in this work.The BCNCs of all subjects were reconstructed using 3D software program(Fly Through,3D).The VE was performed applying low threshold of 850HU to 1150HU and high threshold of 3071HU.Hypoplasia BCNC was defined as absence of helix-like shape or central canal of the cochleaon CT VE.Normal result on CT VE was defined as presence of helix-like shape or central canal of the cochlea.Sensitivity,specificity and accuracy of CT VE were calculated.Results 17 of 20 ears of hypoplasia BCNC showed absence of helix like shape on CT VE.All of the ears of control subjects showed helix like shape and central canal of the cochlea on CT VE.Inter-observer agreement was substantial (K =0.773).The BCNC hypoplasia was diagnosed based on absence of helix-like shape,the sensitivity,specificity and accuracy were 85%,100% and 98% respectively.There were significant differences of absence of helix-like shape between the two groups (P < 0.001).Conclusion The absence of helix-like shape on CT VE images may be used as a potentially useful sign for diagnosis of BCNC hypoplasia.%目的 回顾性评价螺旋状结构消失作为CT仿真内镜诊断骨性蜗神经管发育不良的可行性.方法 病例组包括14例(20耳)骨性蜗神经管发育不良者,对照组由无内耳及内听道疾患的50例(100耳)受试者组成.以临床及常规影像诊断结果作为骨性蜗神经管发育不良的诊断标准.仿真内镜观察骨性蜗神经管采用Flythrough技术并使用如下阈值:下限阈值850~1150,上限阈值3071.阳性结果指螺旋状结构或中

  3. Postoperative normalization of left ventricular noncompaction and new echocardiographic signs in aorta to left ventricular tunnel.

    Science.gov (United States)

    Malakan Rad, Elaheh; Zeinaloo, Ali Akbar

    2013-04-01

    We report postoperative normalization of left ventricular noncompaction in a neonate undergoing successful neonatal surgery for type II aorta to left ventricular tunnel (ALVT) associated with a large patent ductus arteriosus, floppy and extremely redundant anterior mitral leaflet, right coronary artery arising directly from the tunnel, and severe left ventricular noncompaction. We also described 2 novel echocardiographic findings in ALVT including "triple wavy line sign" on M-mode echocardiography which disappeared 1 month after operation and "abnormally increased left ventricular posterior wall motion" on M-mode of standard parasternal long-axis view on color tissue Doppler imaging (TDI) that also normalized postoperatively. We showed that proper definition of endocardial border is extremely important in strain and strain rate imaging in the context of left ventricular noncompaction. Preoperative longitudinal strain and strain rate were significantly decreased in comparison to radial strain and strain rate. Circumferential strain and strain rate were normal. © 2013, Wiley Periodicals, Inc.

  4. 体肺分流术在治疗肺血减少型先天性心脏病中的应用评价%Applied value of pulmonary - systemic circulation shunt for pulmonary hypoplasia congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    卫向阳; 孙英民; 张军; 郭小峰; 常超

    2011-01-01

    Objective To assess the efficacy of pulmonary - systemic circulation shunt in pulmonary hypoplasia congenital heart disease. Methods Twenty patients with pulmonary hypoplasia congenital heart disease were treated by pulmonary- systemic circulation shunt,including 12 cases by Waterston and 8 cases by Centre shunt in our department from April 2005 to February 2009. Results In this series 1 case died from heart failure 16 h after operation and 1 case suffered from heart failure 6 months after operation. The rest survived well. Conclusion Pulmonary- systemic circulation shunt may reduce hypoxemia,improve cardiac performance and promote the development of pulmonary vessel in patients with pulmonary hypoplasia congenital heart disease. Moreover,it would provide conditions for radical total operation.%目的 分析体肺分流术在肺血减少型先天性心脏病治疗中的应用效果.方法 对2005年4月至2009年2月我院20例肺血减少型心脏病患者行体肺分流手术,其中Waterston术(升主动脉吻合至右肺动脉)12例,中心分流术8例.结果 围术期死亡1例,术后半年心功能衰竭1例,余病例无远期死亡.结论 对肺动脉发育不良的患者,体肺分流术可减轻患者的缺氧症状,改善患者的心功能,促进肺血管的发育,并为进一步的手术创造条件.

  5. Diastolic Left Ventricular Dysfunction : A Clinical Appraisal

    NARCIS (Netherlands)

    Bronzwaer, J.G.F.

    2003-01-01

    Diastolic left ventricular (LV) distensibility is determined by the material properties of the LV wall and by LV geometry (i.e., LV shape, LV volume and LV wall thickness). These material properties are influenced both by the physical structure of the LV myocardium and by the dynamic process of myoc

  6. Left ventricular hypertrophy : virtuous intentions, malign consequences

    NARCIS (Netherlands)

    Pokharel, S; Sharma, UC; Pinto, YM

    2003-01-01

    Left ventricular hypertrophy (LVH) is currently the focus of intense cardiovascular research, with the resultant rapid evolution of novel concepts relating to its exceedingly complex pathophysiology. In addition to the alterations in signal transduction and disturbances in Ca2+ homeostasis, there ar

  7. Topologically Left Invariant Means on Semigroup Algebras

    Indian Academy of Sciences (India)

    Ali Ghaffari

    2005-11-01

    Let $M(S)$ be the Banach algebra of all bounded regular Borel measures on a locally compact Hausdorff semitopological semigroup with variation norm and convolution as multiplication. We obtain necessary and sufficient conditions for $M(S)^∗$ to have a topologically left invariant mean.

  8. Giant melanoma of the left thumb

    NARCIS (Netherlands)

    Zeebregts, CJAM; Schraffordt Koops, H.

    2000-01-01

    A 74-year-old female patient is described with a giant melanoma of the left thenar and concomitant bilateral pulmonary metastases. Palliative treatment consisted of a two-staged procedure in order to save the limb from amputation. Firstly, perfusion with gamma-interferon, tumour necrosis factor-alph

  9. Left-right model for dark matter

    CERN Document Server

    Dong, P V

    2016-01-01

    We argue that dark matter can automatically arise from a gauge theory that possesses a non-minimal left-right gauge symmetry, SU(3)_C \\otimes SU(M)_L \\otimes SU(N)_R \\otimes U(1)_X, for (M,N) = (2,3), (3,2), (3,3), \\cdots, and (5,5).

  10. Congestive cardiomyopathy and left ventricular thrombus.

    Science.gov (United States)

    Gould, L; Gopalaswamy, C; Chandy, F; Kim, B S

    1983-07-01

    A left ventricular thrombus was detected by echocardiography in a 54-year-old man with congestive cardiomyopathy. With the use of anticoagulants, the thrombus completely disappeared. Patients with congestive cardiomyopathy who are at high risk for thrombus formation should be screened with two-dimensional echocardiography. If a thrombus is recognized, anticoagulation therapy can then be instituted.

  11. Pathological Left-Handedness: An Explanatory Model.

    Science.gov (United States)

    Satz, Paul

    Reported was an explanatory conceptual model for pathological left-handedness (PLH) and related hypotheses, some of which could not be tested empirically due to lack of information. The model was reported to provide an explanation for the relationship between handedness and specific learning disability, and handedness and cerebral dominance for…

  12. [Congenital left sinus of Valsalva aneurysm].

    Science.gov (United States)

    Simões, M V; Figueira, R R; Barbato, D; Miziara, H L

    1991-01-01

    Two cases of left sinus of Valsalva congenital aneurysm (SVCA), incidentally found are described. The authors call attention on rarity of them, and present new concepts about their morphogenesis and incidence. They also suggested a higher incidence of asymptomatic and undiagnosed cases of SVCA should be considered.

  13. Liponeurocytoma of the Left Lateral Ventricle

    Directory of Open Access Journals (Sweden)

    Ahmet BEKAR

    2009-09-01

    Full Text Available Liponeurocytoma has been recognized recently as a distinct clinicopathological entity by the World Health Organization. Although there are few cases described in the literature it has been accepted as a benign lesion. Here we present a 55-year-old woman with a supratentorial intraventricular liponeurocytoma of the left lateral ventricle.

  14. Laparoscopic versus open left lateral segmentectomy

    Directory of Open Access Journals (Sweden)

    Rela Mohamed

    2009-09-01

    Full Text Available Abstract Background Laparoscopic liver surgery is becoming increasingly common. This cohort study was designed to directly compare perioperative outcomes of the left lateral segmentectomy via laparoscopic and open approach. Methods Between 2002 and 2006 43 left lateral segmentectomies were performed at King's College Hospital. Those excluded from analysis included previous liver resections, polycystic liver disease, liver cirrhosis and synchronous operations. Of 20 patients analysed, laparoscopic (n = 10 were compared with open left lateral segmentectomy (n = 10. Both groups had similar patient characteristics. Results Morbidity rates were similar with no wound or chest infection in either group. The conversion rate was 10% (1/10. There was no difference in operating time between the groups (median time 220 minutes versus 179 minutes, p = 0.315. Surgical margins for all lesions were clear. Less postoperative opiate analgesics were required in the laparoscopic group (median 2 days versus 5 days, p = 0.005. The median postoperative in-hospital stay was less in the laparoscopic group (6 days vs 9 days, p = 0.005. There was no mortality. Conclusion Laparoscopic left lateral segmentectomy is safe and feasible. Laparoscopic patients may benefit from requiring less postoperative opiate analgesia and a shorter post-operative in-hospital stay.

  15. Diastolic Left Ventricular Dysfunction : A Clinical Appraisal

    NARCIS (Netherlands)

    Bronzwaer, J.G.F.

    2003-01-01

    Diastolic left ventricular (LV) distensibility is determined by the material properties of the LV wall and by LV geometry (i.e., LV shape, LV volume and LV wall thickness). These material properties are influenced both by the physical structure of the LV myocardium and by the dynamic process of

  16. The Rings Characterized by Minimal Left Ideals

    Institute of Scientific and Technical Information of China (English)

    Jun Chao WEI

    2005-01-01

    We study these rings with every minimal left ideal being a projective, direct summand and a p-injective module, respectively. Some characterizations of these rings are given, and the relations among them are obtained. With these rings, we characterize semisimple rings. Finally, we introduce MC2 rings, and give some characterizations of MC2 rings.

  17. Nonlinear dynamics of the left ventricle.

    Science.gov (United States)

    Munteanu, Ligia; Chiroiu, Calin; Chiroiu, Veturia

    2002-05-01

    The cnoidal method is applied to solve the set of nonlinear dynamic equations of the left ventricle. By using the theta-function representation of the solutions and a genetic algorithm, the ventricular motion can be described as a linear superposition of cnoidal pulses and additional terms, which include nonlinear interactions among them.

  18. Artificial, parallel, left-handed DNA helices.

    Science.gov (United States)

    Tian, Cheng; Zhang, Chuan; Li, Xiang; Li, Yingmei; Wang, Guansong; Mao, Chengde

    2012-12-19

    This communication reports an engineered DNA architecture. It contains multiple domains of half-turn-long, standard B-DNA duplexes. While each helical domain is right-handed and its two component strands are antiparallel, the global architecture is left-handed and the two component DNA strands are oriented parallel to each other.

  19. Some Characterizations of Left Weakly Regular Ordered Semigroups

    Institute of Scientific and Technical Information of China (English)

    TANC JIAN; XIE XIANG-YUN

    2011-01-01

    In this paper,the notion of left weakly regular ordered semigroups is introduced.Furthermore,left weakly regular ordered semigroups are characterized by the properties of their left ideals,right ideals and (generalized) bi-ideals,and also by the properties of their fuzzy left ideals,fuzzy right ideals and fuzzy (generalized) bi-ideals.

  20. Neonatal repair of total anomalous pulmonary venous connection and lung agenesis.

    Science.gov (United States)

    Kaku, Yuji; Nagashima, Mitsugi; Matsumura, Goki; Yamazaki, Kenji

    2015-07-01

    Here we report a neonatal case of total anomalous pulmonary venous connection with left lung agenesis. Diagnostic imaging demonstrated that the left pulmonary veins were totally absent and the right pulmonary veins connected with the common pulmonary chamber. Drainage from the common pulmonary venous chamber entered the persistent left suerior vena cava. In addition, it revealed complete absence of the left main bronchus and left lung vessels. The neonate successfully underwent surgical repair 18 days after birth.

  1. Left bronchial artery arising from a replaced left hepatic artery in a patient with massive hemoptysis

    Energy Technology Data Exchange (ETDEWEB)

    Khil, Eun Kyung; Lee, Jae Myung [Dept. of Radiology, Soonchunhyang University College of Medicine, Bucheon Hospital, Bucheon (Korea, Republic of)

    2015-09-15

    A 70-year-old man with a 3-year history of bronchiectasis presented with massive hemoptysis that had lasted for 3 days. In our attempt to perform bronchial artery embolization, upper abdominal angiography was required to locate the left bronchial artery, which in this case was of anomalous origin, arising from a replaced left hepatic artery, which arose from the left gastric artery-a very unusual anatomical variant. We performed embolization with polyvinyl alcohol particles, and the patient's symptoms resolved completely, with no additional complications after conservative treatment.

  2. RELATIONSHIP OF LEFT VENTRICULAR SIZE TO LEFT ATRIAL AND LEFT ATRIAL APPENDAGE SIZE IN SINUS RHYTHM PATIENTS WITH DILATED CARDIOMYOPATHY

    Science.gov (United States)

    Bakalli, Aurora; Georgievska-Ismail, Ljubica; Musliu, Nebi; Koçinaj, Dardan; Gashi, Zaim; Zeqiri, Nexhmi

    2012-01-01

    Introduction: Thromboembolic events are a frequent cause of mortality in patients with congestive heart failure. The aim of or study was to evaluate the relationship of left ventricular end diastolic diameter (LVEDD) to left atrial (LA) size and left atrial appendage (LAA) size in patients with dilated cardiomyopathy in sinus rhythm, as well as to determine the prevalence of thrombi in LV and LA /LAA. Methods: This was a prospective cross-sectional study, conducted from December 2009 until December 2011. The study included 95 patients with dilated cardiomyopathy in sinus rhythm. Patients with swallowing problems, acute myocardial infarction, atrial fibrillation/flatter, severe systolic dysfunction, and/or patients who were taking oral anticoagulation therapy were excluded. Results: Mean patient age was 58.6 ± 12.2 years and 68.4% were men. Mean LVEDD of our population was 66.5 ± 6.5 mm, while mean LA atrium, LA volume and LAA maximal area were 46 ± 5.1 mm, 87.2 ± 38.7 cm3 and 4.7 ± 1.2 cm2, respectively. LA diameter (p<0.001) and LAA maximal area (p=0.01) showed to be independent predictors of LV size. LV thrombus was detected in 13 (13.7%) patients, while LAA thrombus in 46 (48.4%) patients of our study population. Conclusions: In conclusion, dilated LV size is associated with enlarged LA and LAA size. On the other hand, dilation of LV, LA and LAA is related to high prevalence of left chamber cardiac thrombi. PMID:23322961

  3. Clinical Research Status of Vertebral Artery Hypoplasia%椎动脉发育不良的临床现状研究

    Institute of Scientific and Technical Information of China (English)

    张倩; 郭阳

    2016-01-01

    椎动脉发育不良与椎动脉先天闭塞,特别是在椎动脉的解剖变异中,是一种并不常见的后循环胚胎变异。大量数据表明在伴或不伴有基底动脉形态变异的情况下,尤其在合并了其他脑血管危险因素时,后循环缺血的发生与椎动脉发育不良有关。尽管在椎动脉发育不良的定义与评估方法上仍存在争议,既往的研究通过彩色多普勒超声发现同侧的发育不良的椎动脉净流速降低,而发育正常的椎动脉净流速代偿性的增加,导致局部血流低灌注,甚至出现临床症状,说明椎动脉发育不良具有更易于闭塞的特点,并增加了远端血栓形成的概率[1]。此外,椎动脉发育不良可能引发其他复杂的神经血管疾病如偏头痛、前庭神经元炎、发作性眩晕以及椎动脉夹层等。%As uncommon embryonic variations of posterior circulation, especially the anatomic variations of vertebral artery (VA), vertebral artery hypoplasia (VAH) and vertebral artery aplasia (VAA), with or without basilar artery morphological abnormalities, have been suggested by substantial data of having relationship with posterior circulation ischemic events, particularly in conjunction with other cerebral vascular risk factors. Inspite of disagreement existing in deifnition and evaluation methods of VAH, color Doppler ultrasonography (CDU) of previous studies have found lower net VA lfow volume of ipilateral hypoplasic artery and an increased compensatory lfow volume of non-hypoplasic artery, resulting local hypoperfusion, even clinical symptoms, illustrating the characteristics of VAH’s more vulnerable to occlusion and distal thrombosis[1]. Besides, VAH may result in other complex neurovascular consequences such as migraine, vestibular neuronitis (VN), episodic dizziness and vertebral artery dissection (VAD), etc.

  4. Dyscalculia, dysgraphia, and left-right confusion from a left posterior peri-insular infarct.

    Science.gov (United States)

    Bhattacharyya, S; Cai, X; Klein, J P

    2014-01-01

    The Gerstmann syndrome of dyscalculia, dysgraphia, left-right confusion, and finger agnosia is generally attributed to lesions near the angular gyrus of the dominant hemisphere. A 68-year-old right-handed woman presented with sudden difficulty completing a Sudoku grid and was found to have dyscalculia, dysgraphia, and left-right confusion. Magnetic resonance imaging (MRI) showed a focus of abnormal reduced diffusivity in the left posterior insula and temporoparietal operculum consistent with acute infarct. Gerstmann syndrome from an insular or peri-insular lesion has not been described in the literature previously. Pathological and functional imaging studies show connections between left posterior insular region and inferior parietal lobe. We postulate that the insula and operculum lesion disrupted key functional networks resulting in a pseudoparietal presentation.

  5. Dyscalculia, Dysgraphia, and Left-Right Confusion from a Left Posterior Peri-Insular Infarct

    Directory of Open Access Journals (Sweden)

    S. Bhattacharyya

    2014-01-01

    Full Text Available The Gerstmann syndrome of dyscalculia, dysgraphia, left-right confusion, and finger agnosia is generally attributed to lesions near the angular gyrus of the dominant hemisphere. A 68-year-old right-handed woman presented with sudden difficulty completing a Sudoku grid and was found to have dyscalculia, dysgraphia, and left-right confusion. Magnetic resonance imaging (MRI showed a focus of abnormal reduced diffusivity in the left posterior insula and temporoparietal operculum consistent with acute infarct. Gerstmann syndrome from an insular or peri-insular lesion has not been described in the literature previously. Pathological and functional imaging studies show connections between left posterior insular region and inferior parietal lobe. We postulate that the insula and operculum lesion disrupted key functional networks resulting in a pseudoparietal presentation.

  6. Reconstruction of the left-sided brachiocephalic trunk after vascular ring operation in left-handed child with Kommerell's diverticulum.

    Science.gov (United States)

    Haponiuk, Ireneusz; Paczkowski, Konrad; Chojnicki, Maciej; Jaworski, Radosław; Steffens, Mariusz; Szofer-Sendrowska, Aneta; Kwaśniak, Ewelina; Zieliński, Jacek; Gierat-Haponiuk, Katarzyna

    2013-01-01

    We report a case of a 2-year-old girl with prenatal diagnosis of vascular ring composed of a right-sided aortic arch, a left ligamentum arteriosum, and a left subclavian artery (arteria lusoria sin) originating from a retroesophageal Kommerell's diverticulum, who was referred for surgery with symptoms related to local compression - severe dysphagia and respiratory disorders. Through the left posterolateral thoracotomy, a ligamentum arteriosum between the Kommerell's diverticulum and the left pulmonary artery was divided and because of left-handedness of the child a brachiocephalic trunk was reconstructed in the fashion of anastomosis of the left subclavian artery and the left common carotid artery, originating from the ascending aorta.

  7. A constrained supersymmetric left-right model

    CERN Document Server

    Hirsch, Martin; Opferkuch, Toby; Porod, Werner; Staub, Florian

    2016-01-01

    We present a supersymmetric left-right model which predicts gauge coupling unification close to the string scale and extra vector bosons at the TeV scale. The subtleties in constructing a model which is in agreement with the measured quark masses and mixing for such a low left-right breaking scale are discussed. It is shown that in the constrained version of this model radiative breaking of the gauge symmetries is possible and a SM-like Higgs is obtained. Additional CP-even scalars of a similar mass or even much lighter are possible. The expected mass hierarchies for the supersymmetric states differ clearly from those of the constrained MSSM. In particular, the lightest down-type squark, which is a mixture of the sbottom and extra vector-like states, is always lighter than the stop. We also comment on the model's capability to explain current anomalies observed at the LHC.

  8. Left Realism and Social Democratic Renewal

    Directory of Open Access Journals (Sweden)

    Russell Hogg

    2016-09-01

    Full Text Available At its inception Left Realism argued the need to develop a radical social democratic approach to crime. I argue that its contribution and continuing relevance primarily lies in this political project, the need for which has not dissipated. But this can only be advanced as an integral component of a more general renewal of social democratic ideas and politics that challenges the hegemony of neo-liberalism. This is far from guaranteed. The possibilities and challenges after the global financial crisis are considered. I argue for a rethinking of some core themes from early Left Realism to (as I see it better complement the task of social democratic renewal in the present.

  9. Minimal Left-Right Symmetric Dark Matter.

    Science.gov (United States)

    Heeck, Julian; Patra, Sudhanwa

    2015-09-18

    We show that left-right symmetric models can easily accommodate stable TeV-scale dark matter particles without the need for an ad hoc stabilizing symmetry. The stability of a newly introduced multiplet either arises accidentally as in the minimal dark matter framework or comes courtesy of the remaining unbroken Z_{2} subgroup of B-L. Only one new parameter is introduced: the mass of the new multiplet. As minimal examples, we study left-right fermion triplets and quintuplets and show that they can form viable two-component dark matter. This approach is, in particular, valid for SU(2)×SU(2)×U(1) models that explain the recent diboson excess at ATLAS in terms of a new charged gauge boson of mass 2 TeV.

  10. Left-right symmetry and neutrino stability

    CERN Document Server

    Akhmedov, E K; Ranfone, S; Valle, José W F; Joshipura, A S; Ranfone, S; Valle, J W F

    1995-01-01

    We consider a left-right symmetric model in which neutrinos acquire mass due to the spontaneous violation of both the gauged B-L and a global U(1) symmetry broken by the vacuum expectation value (VEV) of a gauge singlet scalar boson \\VEV{\\sigma}. For suitable choices of \\VEV{\\sigma} consistent with all laboratory and astrophysical observations neutrinos will be unstable against majoron emission. All neutrino masses in the keV to MeV range are possible, since the expected neutrino decay lifetimes can be short enough to dilute their relic density below the cosmologically required level. A wide variety of possible new phenomena, associated to the presence of left-right symmetry and/or the global symmetry at the TeV scale, could therefore be observable, without conflict with cosmology. The latter includes the possibility of invisibly decaying higgs bosons, which can be searched at LEP, NLC and LHC.

  11. Minimal Left-Right Dark Matter

    CERN Document Server

    Heeck, Julian

    2015-01-01

    We show that left-right-symmetric models can easily accommodate stable TeV-scale dark matter particles. The stability of a newly introduced multiplet arises either accidentally as in the Minimal Dark Matter framework or comes courtesy of the remaining unbroken $\\mathbb{Z}_2$ subgroup of $B-L$. As a minimal example we study left-right fermion triplets and quintuplets and show that they can form viable two-component dark matter. This approach is in particular valid for $SU(2)\\times SU(2)\\times U(1)$ models that explain the recent diboson excess at ATLAS in terms of a new charged gauge boson of mass 2 TeV.

  12. [Myocardial revascularization surgery via a left minithoracotomy].

    Science.gov (United States)

    da Silveira, W L; Leite, A F; Artiaga, E P; Queiroz, F C; Ferreira, K A; de Carvalho, M C; da Silva, M A; Abdulmassih del Papa, M; Costa, L H; da Cunha, O M; Nazzeta, H; de Oliveira, V G

    1998-12-01

    There is, today, a global tendency towards a surgical approach privileging very small incisions, the so-called minimally invasive intervention, which results in a less aggressive action. The introduction of this new technique makes it possible to dissect the left internal thoracic artery (LITA) and to perform in the anastomosis with the anterior interventricular artery (AIA) through a left minithoracotomy. From May of 1996 to october of 1997, 11 patients with ischemic heart disease and a single proximal lesion of the AIA were submitted to a myocardial revascularization (MR). The surgical approach consisted of a left anterolateral thoracotomy through the 4th left intercostal space, of approximately 10 cm, and in the last 6 cases, resection of part of the cartilage of the 4th and 5th ribs, dissection of the LITA, as well as opening and repair of the pericardium adjacent to the AIA was done. All patients received a single bypass to the AIA with a graft of the LITA, without extracorporeal circulation. The patients' age varied between 46 and 76 years (mean = 58.55). Ten patients (90.90%) were males and 1 (9.09%) was a female. Hospital stay ranged from 4 to 8 days, with the average of 5.2 days. None of the patients presented any electrocardiographic change in the immediate post-operatory period. During the control period one patient developed a clot in the distal LITA, with important compromise of the flow. In another patient the stenosis was at the level of the anastomosis. Both were successfully submitted to angioplasty. There were no deaths in the groups studied. The absence of deaths suggests to us that MR surgery carried out with this minimally invasive technique, in selected groups and is an excellent alternative to the revascularization of the AIA.

  13. Is Left-Right Symmetry the Key?

    CERN Document Server

    Senjanovic, Goran

    2016-01-01

    Abdus Salam challenged the chiral gauge nature of the Standard Model by paving the road towards the Left-Right symmetric electro-weak theory. I describe here the logical and historical construction of this theory, by emphasising the pioneering and key role it played for neutrino mass. I show that it is a self-contained and predictive model with the Higgs origin of Majorana neutrino mass, in complete analogy with the SM situation regarding charged fermions.

  14. Total agenesis of the left pericardium

    Directory of Open Access Journals (Sweden)

    J. Glauco Lobo Fº

    1999-09-01

    Full Text Available This is the report of a 46-year-old patient with the preoperative diagnosis of an atrial septal defect (ASD of the ostium secudum type. After sternectomy, partial agenesis of the left pericardium was diagnosed. It is our opinion that, if the radiographic picture is suggestive of this entity, a clinical search for cardiopulmonary anomalies should be performed, because the majority of these associated anomalies can and should be surgically corrected.

  15. Diastolic Left Ventricular Dysfunction : A Clinical Appraisal

    OpenAIRE

    Bronzwaer, J.G.F.

    2003-01-01

    Diastolic left ventricular (LV) distensibility is determined by the material properties of the LV wall and by LV geometry (i.e., LV shape, LV volume and LV wall thickness). These material properties are influenced both by the physical structure of the LV myocardium and by the dynamic process of myocardial relaxation. The material properties of the myocardium dictate the strain that follows a given stress, and determine position and shape of the myocardial stress-strain relationship. The mater...

  16. Left Atrial Ablation for Atrial Fibrillation

    Science.gov (United States)

    Sternik, Leonid; Schaff, Hartzel V.; Luria, David; Glikson, Michael; Kogan, Alexander; Malachy, Ateret; First, Maya; Raanani, Ehud

    2011-01-01

    The maze procedure is the gold standard for the ablation of atrial fibrillation, and the “box lesion” around the pulmonary veins is the most important part of this procedure. We have created this lesion with a bipolar radiofrequency ablator, abandoning the usual use of this device (to achieve bilateral epicardial isolation of the pulmonary veins). From March 2004 through the end of May 2010, we performed surgical ablation of atrial fibrillation in 240 patients. Of this number, 205 underwent operation by a hybrid maze technique and the remaining 35 (our study cohort) underwent the creation of a box lesion around the pulmonary veins by means of a bipolar radiofrequency device. Ablation lines were created by connecting the left atriotomy to the amputated left atrial appendage, with 2 ablation lines made with a bipolar radiofrequency device above and below the pulmonary veins. Lesions were made along the transverse and oblique sinuses by epicardial and endocardial application of a bipolar device. The left atrial isthmus was ablated by bipolar radiofrequency and cryoprobe. No complications were associated with the box lesion: 90% and 89% of patients were in sinus rhythm at 3 and 6 months of follow-up, respectively. By creating a box lesion around the pulmonary veins, we expect to improve transmurality by means of epicardial and endocardial ablation of 1 rather than 2 layers of atrial wall, as in epicardial pulmonary vein isolation. Isolation of the entire posterior wall of the left atrium is better electrophysiologically and renders dissection around the pulmonary veins unnecessary. PMID:21494518

  17. Clustered survival data with left-truncation

    DEFF Research Database (Denmark)

    Eriksson, Frank; Martinussen, Torben; Scheike, Thomas H.

    2015-01-01

    Left-truncation occurs frequently in survival studies, and it is well known how to deal with this for univariate survival times. However, there are few results on how to estimate dependence parameters and regression effects in semiparametric models for clustered survival data with delayed entry...... are investigated via simulation studies, and the suggested estimators are used in a study of prostate cancer based on the Finnish twin cohort where a twin pair is included only if both twins were alive in 1974....

  18. Left-Deviating Prism Adaptation in Left Neglect Patient: Reflexions on a Negative Result

    Science.gov (United States)

    Luauté, Jacques; Jacquin-Courtois, Sophie; O'Shea, Jacinta; Christophe, Laure; Rode, Gilles; Boisson, Dominique; Rossetti, Yves

    2012-01-01

    Adaptation to right-deviating prisms is a promising intervention for the rehabilitation of patients with left spatial neglect. In order to test the lateral specificity of prism adaptation on left neglect, the present study evaluated the effect of left-deviating prism on straight-ahead pointing movements and on several classical neuropsychological tests in a group of five right brain-damaged patients with left spatial neglect. A group of healthy subjects was also included for comparison purposes. After a single session of exposing simple manual pointing to left-deviating prisms, contrary to healthy controls, none of the patients showed a reliable change of the straight-ahead pointing movement in the dark. No significant modification of attentional paper-and-pencil tasks was either observed immediately or 2 hours after prism adaptation. These results suggest that the therapeutic effect of prism adaptation on left spatial neglect relies on a specific lateralized mechanism. Evidence for a directional effect for prism adaptation both in terms of the side of the visuomanual adaptation and therefore possibly in terms of the side of brain affected by the stimulation is discussed. PMID:23050168

  19. Left-Deviating Prism Adaptation in Left Neglect Patient: Reflexions on a Negative Result

    Directory of Open Access Journals (Sweden)

    Jacques Luauté

    2012-01-01

    Full Text Available Adaptation to right-deviating prisms is a promising intervention for the rehabilitation of patients with left spatial neglect. In order to test the lateral specificity of prism adaptation on left neglect, the present study evaluated the effect of left-deviating prism on straight-ahead pointing movements and on several classical neuropsychological tests in a group of five right brain-damaged patients with left spatial neglect. A group of healthy subjects was also included for comparison purposes. After a single session of exposing simple manual pointing to left-deviating prisms, contrary to healthy controls, none of the patients showed a reliable change of the straight-ahead pointing movement in the dark. No significant modification of attentional paper-and-pencil tasks was either observed immediately or 2 hours after prism adaptation. These results suggest that the therapeutic effect of prism adaptation on left spatial neglect relies on a specific lateralized mechanism. Evidence for a directional effect for prism adaptation both in terms of the side of the visuomanual adaptation and therefore possibly in terms of the side of brain affected by the stimulation is discussed.

  20. Anomalous Origin of Left Circumflex Artery

    Science.gov (United States)

    Çitaku, Hajdin; Kamberi, Lulzim; Gorani, Daut; Koçinaj, Dardan; Krasniqi, Xhevdet

    2015-01-01

    Introduction: The coronary anatomic variation of the left circumflex artery (LCx) is considered as the most common anatomic variation with a separate ostium from the right sinus, and very unusual variation as a proximal branch of right coronary artery (RCA). Case report: We report two cases, the first case is a 64-year-old man with chest pain and with history of hypertension, obesity, dyslipidemia and current smoker, and the second case is a 67-year-old who presented to the emergency department with chest pain and with a past medical history of arterial hypertension and type 2 diabetes mellitus. In the coronarography of the first case is detected an ectopic left circumflex coronary artery from the right coronary sinus with stenotic changes in RCA and LCx. The second case in the coronary angiography revealed an ectopic left circumflex coronary artery from the proximal part of the right coronary artery with stenotic changes in LAD, RCA and LCx. Based on guidelines for revascularization our patients successfully underwent treatment procedures. We present two cases that because of the atherosclerotic coronary artery disease leads to the need of coronarography find out the presence of coronary artery anomalies. Conclusion: During the coronarography we should think about coronary artery anomaly or missing artery knowing that type of these anomalies, considering that may be a contributing factor in the development of the atherosclerosis determines the method of the treatment. PMID:26843740