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Sample records for clinical experience congenital

  1. Congenital Minamata disease: warnings from Japan's experience.

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    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  2. Congenital Portosystemic Shunt: Our Experience

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    Tiziana Timpanaro

    2015-01-01

    Full Text Available Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II. In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

  3. [Congenital retinal folds in different clinical cases].

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    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  4. Clinical Experience of Prosthodontics Treatment on Congenital Missing Teeth%口腔修复治疗先天性缺牙的临床体会

    Institute of Scientific and Technical Information of China (English)

    徐尤学

    2014-01-01

    目的:观察对先天性缺牙患者进行口腔修复治疗的临床方法和效果。方法:2011年3月~2013年3月我院收治的先天性缺牙67例患者进行口腔修复,观察临床效果。结果:治疗后患者咀嚼功能平均分和语言功能平均分高于治疗前;患者对治疗满意度为98.51%,结果有统计学意义(P<0.05)。结论:对先天性缺牙患者积极的进行口腔修复治疗,临床效果较好,不良反应及并发症较少,治疗满意度较高,值得推广。%Objective:To observe the clinical approach and effect of the clinical experience of prosthodontics treatment on congenital missing teeth. Method:Observing clinical effect of 67 patients with congenital missing teeth from March,2011 to March,2013 in the hospital. Results:After treatment,the average score of masticatory function and language function points were higher than the average pre-treatment; patient treatment satisfaction was 98.51%,and the results had statistically significant meaning(P <0.05). Conclusion:For patients with congenital missing teeth,dental restorative treatment has good clinical effect,with fewer adverse reactions and complications,and higher treatment satisfaction. So it is worthy of promotion.

  5. Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

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    Lee, Tain; Tsai, I.C.; Chen, Min-Chi [Taichung Veterans General Hospital, 407 Department of Radiology, Taichung (Taiwan); Medical College of Chung Shan Medical University, Faculty of Medicine, Taichung (Taiwan); National Yang Ming University School of Medicine, Department of Medicine, Taipei (Taiwan); Fu, Yun-Ching; Jan, Sheng-Lin [Taichung Veterans General Hospital, Department of Paediatrics, Taichung (Taiwan); National Yang-Ming University, Institute of Clinical Medicine, Taipei (Taiwan); Wang, Chung-Chi; Chang, Yen [Taichung Veterans General Hospital, Section of Cardiovascular Surgery, Department of Surgery, Taichung (Taiwan)

    2006-12-15

    Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates. (orig.)

  6. Clinical presentation and management of congenital ptosis

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    Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro

    2017-01-01

    Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. PMID:28280295

  7. Clinical presentation and management of congenital ptosis

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    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  8. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

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    Prashant Shah

    2017-01-01

    Full Text Available Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5% followed by cyanotic congenital heart disease (14.2% and obstructive congenital heart disease (4.3%. Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52% which was followed by ventricular septal defect (28.8% and patent ductus arteriosus (14.8%. Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%. Rarer entities, like d-transposition of great

  9. Congenital dislocation of the patella - clinical case

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    Pedro Miguel Sá

    2016-02-01

    Full Text Available ABSTRACT Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  10. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

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    Iman S. Abumansour

    2015-10-01

    Full Text Available Background - Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS, Carpenter syndrome, and Meckel syndrome. Aim - In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method - Single nucleotide polymorphism (SNP array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions - Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

  11. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    Science.gov (United States)

    Abumansour, Iman S.; Al Sulmi, Eman; Chodirker, Bernard N.; Hunt, Jennifer C.

    2015-01-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families. PMID:26495167

  12. Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

    Science.gov (United States)

    Abumansour, Iman S; Al Sulmi, Eman; Chodirker, Bernard N; Hunt, Jennifer C

    2015-10-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

  13. Congenital Upper Eyelid Coloboma: Clinical and Surgical Management

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    José María Ortega Molina; Eduardo Ramón Mora Horna; Andrés David Salgado Miranda; Rosa Rubio; Ana Solans Pérez de Larraya; Guillermo Salcedo Casillas

    2015-01-01

    Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. “Dr. Luis Sánchez Bulnes” between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the ey...

  14. Clinical experience of ear reconstruction for 98 congenital microtia%先天性小耳畸形耳廓再造术98例临床经验总结

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    李鹰; 刘芳; 张敬群; 郑启兵; 靳方方; 徐加红

    2013-01-01

    目的:总结先天性小耳畸形耳廓再造术的临床经验.方法:回顾性分析98例先天性小耳畸形耳廓再造术经验,对手术方法、术后并发症等进行总结.结果:我科于2009年1月~2012年10月,采用“耳后扩张皮瓣加自体肋软骨立体支架法”行耳廓再造术98例,经过6个月~3年随访,发现再造耳形态逼真,位置、大小与健侧基本一致;皮肤颜色与面部接近;支架无吸收及变形;再造耳廓的立体形态良好、外形自然;颅耳角与对侧相似,耳后瘢痕不明显.结论:采用“耳后扩张皮瓣加自体肋软骨立体支架法”行耳廓再造术,并发症少、外形逼真,是理想的先天性小耳畸形再造方法,可在临床上推广应用.%Objective To summary the clinical experience of ear reconstruction surgery for congenital microtia.Methods Retrospective of 98 Ear reconstruction surgeries for congeniatlal microtia,include surgery method and postoperative complications,Results From January of 2009 to October of 2012,our department have applied 98 ear reconstruction sugeries,with method of "Soft tissue skin expander together with autogenous rib cartilage framework",Which were followed up for 6 mothes to 3 years.The Reconstruced ear have the same size、location with the other one; skin color close with the face; the fromework have no deformities,the ear have good natrual shape and the same cranioauricular with the other one,and the scar are illegibility.Conclusion Soft tissue skin expander together with autogenous rib cartilage framework could be the best way to reconstructed congenital microtia,and it should be popularize its clinical application.

  15. Congenital Upper Eyelid Coloboma: Clinical and Surgical Management

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    José María Ortega Molina

    2015-01-01

    Full Text Available Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. “Dr. Luis Sánchez Bulnes” between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the eyelid defects before one year of age and their evolution was monitored from the time of referral to the present day. One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions. Eyelid colobomas are a potential threat to vision at an early age, which requires close monitoring of the visual development of patients.

  16. Congenital Upper Eyelid Coloboma: Clinical and Surgical Management.

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    Ortega Molina, José María; Mora Horna, Eduardo Ramón; Salgado Miranda, Andrés David; Rubio, Rosa; Solans Pérez de Larraya, Ana; Salcedo Casillas, Guillermo

    2015-01-01

    Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. "Dr. Luis Sánchez Bulnes" between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the eyelid defects before one year of age and their evolution was monitored from the time of referral to the present day. One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions. Eyelid colobomas are a potential threat to vision at an early age, which requires close monitoring of the visual development of patients.

  17. Congenital choledochal cysts in adults: twenty-five-year experience

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    LIU Ying-bin; CAO Li-ping; PENG Shu-you; WANG Jian-wei; Khagendra Raj Devkota; JI Zhen-ling; LI Jiang-tao; WANG Xu-an; MA Xiao-ming; CAI Wei-long; KONG Ying

    2007-01-01

    Background Choledochal cyst is rare in western countries. The relatively high incidence of coexistent hepatobiliary disease increases the difficulty of the surgical management of choledochal cyst. Here we analyze the diagnosis and treatment of congenital bile duct cyst in 122 Chinese adults.Methods The clinical data of 122 patients with congenital choledochal cysts admitted from 1981 to 2006 were analyzed.Results Clinical symptoms in most cases were nonspecific, resulting in delayed diagnosis. Sixty-one patients (50%) had coexistent pancreatobiliary disease. Among the 122 patients, 119 patients underwent ultrasonic examination;ERCP/MRCP was performed in 63 cases and CT in 102 cases. Abnormal pancreatobiliary duct junction was found in 48 patients. Sixteen patients had malignant lesions in the bile duct, arising in 11 of them from incomplete choledochal cyst that underwent various operations including cystenterostomy or cystojejunostomy. There was significant difference between the patients who underwent incomplete cyst resection and complete cyst resection in malignancy rate of bile duct (Chi square test, P= 0.000; odds ratio, 7.800; 95 % confidence interval, 2.450 to 24.836).Conclusions ERCP, CT and MRCP had proved their great values in the classification of the disease. Cyst excision with Roux-en-Y hepaticojejunostomy is recommended as the treatment of choice for patients with type Ⅰ or type Ⅳ cysts. For type Ⅴ cyst (Caroli's disease) with recurrent cholangitis, liver transplantation should be considered.

  18. Ullrich Congenital Muscular Dystrophy (UCMD: Clinical and Genetic Correlations

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    Bita BOZORGMEHR

    2013-08-01

    Full Text Available How to Cite This Article: Bozorgmehr B, Kariminejad A, Nafissi Sh, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand Y, Richard P, Kariminejad MH. Ullrich Congenital Muscular Dystrophy (UCMD:Clinical and Genetic Correlations. Iran J Child Neurol. 2013 Summer; 7(3: 15-22.  Objective:Ullrich congenital muscular dystrophy (UCMD corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI. We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance.Materials & MethodsFour unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR, and mutation identification was performed by sequencing of complementary DNA.ResultsCOL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1.ConclusionIn this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly tomoderately affected.References1. Voit T. Congenital Muscular Dystrophies Brain Dev 1998;20(2: 65-74.2. Ullrich OZ Ges. Scleroatonic Muscular Dystrophy. NeurolPsychiatr 1930;126:171-201.3. Ullrich O. Monatsschr. Kinderheilkd 1930;47:502-10.4. Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, et al. Collagen VI involvement in

  19. Clinical Study of 23 Male Patients with Congenital Ventral Penile Angulation without Hypospadias

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    Ioannis Patoulias

    2017-02-01

    Full Text Available Congenital ventral penile angulation without hypospadias is a rare disease and causes great anxiety to the parents. The aim of our study is the presentation of this disease, especially the indications of surgical treatment and the protocol applied in our clinic. We retrospectively studied 23 male patients aged 2.5 to 7 years old (av 5.2 y with important penile angulation (over 45° without hypospadias, treated during the past 15 years in our department. In 9 patients the cause was the skin chordee (fibrosis of the ventral part of the prepuce, in 4 the fibrotic fascia (incomplete development of dartos and Buck’s fascia and in 10 the disproportion of the corpora cavernosa. No case of congenital short urethra was reported. In our opinion, the appliance of the algorithm suggested by Donnahoo KK et al. in uncomplicated cases, along with the experience of the surgical team, results in satisfactory treatment and avoidance of complications.

  20. Congenital duodenal obstruction in neonates:a decade's experience from one center

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    Qing-Jiang Chen; Zhi-Gang Gao; Jin-Fa Tou; Yun-Zhong Qian; Min-Ju Li; Qi-Xing Xiong; Qiang Shu

    2014-01-01

    Background: Congenital duodenal obstruction (CDO) is one of the most common anomalies in newborns, and accounting for nearly half of all cases of neonatal intestinal obstruction. This study aimed to review our single-center experience in managing congenital duodenal obstruction while evaluate the outcomes. Methods: We conducted a retrospective analysis of the records of all neonates dianogsed with congenital duodenal obstruction admitted to our center between January 2003 and December 2012. We analyzed demographic criteria, clinical manifestations, associated anomalies, radiologic findings, surgical methods, postoperative complications, and fi nal outcomes. Results: The study comprised 287 newborns (193 boys and 94 girls). Birth weight ranged from 950 g to 4850 g. Fifty-three patients were born prematurely between 28 and 36 weeks' gestation. Malrotation was diagnosed in 174 patients, annular pancreas in 66, duodenal web in 55, duodenal atresia or stenosis in 9, preduodenal portal vein in 2, and congenital band compression in 1. Twenty patients had various combinations of these conditions. Presenting symptoms included bilious vomiting, dehydration, and weight loss. X-rays of the upper abdomen demonstrated the presence of a typical doublebubble sign or air-fl uid levels in 68.64% of patients, and confi rmatory upper and/or lower gastrointestinal contrast studies were obtained in 64.11%. Multiple associated abnormalities were observed in 50.52% of the patients. Various surgical approaches were used, including Ladd's procedure, duodenoplasty, duodenoduodenostomy, duodenojejunostomy, or a combination of these. Seventeen patients died postoperatively and 14 required re-operation. Conclusions: Congenital duodenal obstruction is a complex entity with various etiologies and often includes multiple concomitant disorders. Timely diagnosis and aggressive surgery are key to improving prognosis. Care should be taken to address all of the causes of duodenal obstruction and

  1. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

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    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Cli

  2. Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment.

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    Lupsa, Beatrice C; Sachdev, Vandana; Lungu, Andreea O; Rosing, Douglas R; Gorden, Phillip

    2010-07-01

    Lipodystrophy is a rare disorder characterized by loss of adipose tissue and low leptin levels. This condition is characterized by severe dyslipidemia, insulin resistance, diabetes mellitus, and steatohepatitis. Another phenotypic feature that occurs with considerable frequency in generalized lipodystrophy is cardiomyopathy. We report here the cardiac findings in a cohort of patients with generalized congenital and acquired lipodystrophy, and present a literature review of the cardiac findings in patients with generalized lipodystrophy. We studied 44 patients with generalized congenital and acquired lipodystrophy, most of them enrolled in a clinical trial of leptin therapy. Patients underwent electrocardiograms and transthoracic echocardiograms to evaluate their cardiac status. We followed these patients for an extended time period, some of them up to 8 years. Evaluation of our cohort of patients with generalized lipodystrophy shows that cardiomyopathy is a frequent finding in this population. Most of our patients had hypertrophic cardiomyopathy, and only a small number had features of dilated cardiomyopathy. Hypertrophic cardiomyopathy was more frequent in patients with seipin mutation, a finding consistent with the literature. The underlying mechanism for cardiomyopathy in lipodystrophy is not clear. Extreme insulin resistance and the possibility of a "lipotoxic cardiomyopathy" should be entertained as possible explanations.

  3. The clinical and radiological observation of congenital syphilis

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    Nah, Byung Sik; Chung, Ung Ki [Chonnam National University College of Medicine, Kwangju (Korea, Republic of)

    1983-03-15

    Congenital syphilis is transmitted through the placenta by the infected mother after 16 weeks of gestation. Since the incidence of syphilis is again on the increase, syphilis remains at the present time a public problem of major and increasing proportions. Recently, congenital syphilis has different formas of presentation. The authors observed clinically and radiologically 27 cases of congenital syphilis in the neonates and infants treated at the pediatric ward of Chonnam National University Hospital from Jan. 1977 to Mar. 1982. The results are as follows: 1. The number of observed patients was 27 cases, 22 cases in male, 5 cases in female. 2. Onset of first clinical symptoms and signs was within the 4th week life in 14 cases (52%), 1-2 months in 6 cases (22%), 2-3 months in 4 cases (15%), 3-4 months in 3 cases (11%). All cases was within 6 months. 3. The order of the frequency of common clinical manifestations was hepatomegaly (96%), splenomegaly (78%), skin lesion (63%), anemia (63%), nasal snuffle (56%). 4. Of 11 cases with known birth weight, 10 cases were low birth weight. 5. The serologic test (VDRL slide test) of 27 tested caes revealed reactive response in 26 cases, non-reactive response in 1 case, and that of syphilitic mothers except one revealed reactive in 23 cases, non- reactive in 3 cases. 6. Roentgenographic syphilitic bony changes were detected in 26 cases (96%), of 27 studied cases, osteochondritis was present in 24 cases (89%), periostitis in 21 case (78%), osteomyelitis in 11 cases (41%). 7. The most common sites affected were as follows. Radius and ulna were the most frequently affected, the next were in order of tibia and fibula. Considering osteochondiritis only, the distal end of radius and ulna (78% respectively) and proximal end of tibra (67%) were the most frequently affected sites, the proximal end of femur (33%) was least frequently affected site. 8. On chest films of 27 case, osseous changes (mainly periostitis) of clavicle were noted

  4. Spectrum of congenital myopathies: A single centre experience

    Directory of Open Access Journals (Sweden)

    Megha S Uppin

    2013-01-01

    Full Text Available Background: Congenital myopathies (CMs are rare and they are clinically and genetically heterogeneous. Muscle biopsy is characterized by structural abnormality that is diagnostic. There are few studies from India. Materials and Methods: This is a retrospective study of 12 years. The demographic data, clinical features and laboratory data of patients diagnosed as CMs on muscle biopsy were retrieved from medical records. The slides were reviewed for morphological and structural abnormalities using the following stains hematoxylin and eosin, modified Gomori trichrome, masson trichrome, periodic acid schiff, adenosine triphosphatase preincubated at pH 9.4, 4.6 and 4.3, nicotinamide adenine dinucleotide tetrazolium reductase, succinic dehydrogenase and cytochrome c oxidase. Immunohistochemistry was performed with dystrophin, sarcoglycans and desmin wherever necessary. Results: There were 50 patients with CMs: Centronuclear myopathy (23, myotubular myopathy (3 and central core disease (CCD (8, nemaline myopathy (5, congenital fiber type proportion (10 and desmin related myopathy with arrythmogenic right ventricular cardiomyopathy (ARVD (1. Of the 50 patients, 30 (60% presented in the first decade of life. Proximal muscle weakness and hypotonia were the common presenting features. Type 1 atrophy and predominance were seen in most cases on muscle biopsy. CCD had one patient with high creatine phosphokinase levels, biopsy in one patient showed both rods and cores, in the other limb girdle muscular dystrophy like picture and one biopsy showed uniform type 1 fibers. There was one desmin related myopathy with ARVD, who had cardiac transplantation and both skeletal and cardiac muscle showed characteristic rimmed vacuoles and inclusions positive for desmin. Conclusion: CMs are rare and the diagnosis can only be established on muscle biopsy. Defining the specific CMs helps the clinician in counseling the patient and family.

  5. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications

    Science.gov (United States)

    Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes. PMID:27648330

  6. Abnormal Congenital Location of Stapes’ Superstructure: Clinical and Embryological Implications

    Directory of Open Access Journals (Sweden)

    Vânia Henriques

    2016-01-01

    Full Text Available Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes’ superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes.

  7. [Congenital glaucoma and trabeculodysgenesis. Clinical and genetic aspects].

    Science.gov (United States)

    Dureau, P

    2006-02-01

    Congenital glaucoma is generally related to an iridocorneal angle malformation, with an obstacle to aqueous humor outflow. This spectrum of diseases can involve the angle, the iris and the cornea. The diagnosis relies on characteristic signs and is confirmed by an examination under general anaesthesia and paraclinical examinations (especially echography). An early diagnosis is essential for beginning surgical treatment. Several filtering surgery techniques with equivalent intraocular pressure results are available, but visual function must be protected in all cases. In many cases, genetic counseling relies on a careful clinical analysis and sometimes on a molecular analysis. A number of ocular and/or general abnormalities can be accompanied by glaucoma in infants and children. They must be screened in case of associated signs, but the existence of these abnormalities leads to suspicion of associated glaucoma.

  8. Body Experiences of Persons Who Are Congenitally Blind: A Phenomenological-Psychological Study.

    Science.gov (United States)

    Bullington, J.; Karlsson, G.

    1997-01-01

    A study of seven people with congenital blindness, three with adventitious blindness, and four sighted people investigated how people with congenital blindness experience body capability, body expression, and the social and psychological, identity creating aspects of the body and body experience. The value of exercise and body-awareness training…

  9. Experience with 40 cases of congenital pouch colon

    Directory of Open Access Journals (Sweden)

    Ghritlaharey R

    2007-01-01

    Full Text Available Aim : The aim of this study was to analyze the clinical and management aspect of congenital pouch colon. Materials and Methods : This retrospective study was carried out on 40 cases of congenital pouch colon managed in the department of paediatric surgery from 01, January 2000 to 31, December 2005. Results : The incidence of congenital pouch colon (CPC in the present study was 11.290 % (40 of 354 of all anorectal malformations (ARM and 19.60% (40 of 204 of high ARM. Of these 40 cases of CPC included in the study, 82.5% were male and 17.5% were female. The average age of presentation to hospital was 3.36 days with a range of 1-11 days; of these 25% patients were admitted with poor general condition. Preoperative diagnosis of CPC was possible in 75% of cases in our study. 60% ( n =24 of cases had incomplete pouch colon (Type III and IV while 40% ( n =16 had complete pouch colon (Type I and II. Right transverse colostomy was done in 16 patients and colostomy at descending colon just proximal to pouch in two patients for incomplete (Type III and IV CPC as a primary initial procedure. Ileostomy was done in 14 patients and window colostomy in three patients for complete (Type I and II CPC. As definitive procedures, pouch excision and abdomino-perineal pull-through of colon was done in 17 patients, coloplasty and abdomino-perineal pull-through of coloplasty colon was done in four patients and pouch excision and abdomino-perineal pull-through of terminal ileum in four patients in our series. None of our patients underwent primary single stage procedure. Conclusion: (1 CPC comprises 11.290 % of all ARM and 19.60% of high ARM. (2 Right transverse colostomy was opted for incomplete pouch colon, while Ileostomy and window colostomy were opted for complete pouch colon as initial surgical procedures. (3 Staged surgical procedures for management of CPC were well tolerated in our series.

  10. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  11. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

    NARCIS (Netherlands)

    Shabo, G.; Scheffer, H.; Cruysberg, J.R.M.; Lammens, M.M.Y.; Pasman, J.W.; Spruit, M.; Willemsen, M.A.A.P.

    2005-01-01

    Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the

  12. Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.

    Science.gov (United States)

    Faiq, Muneeb; Sharma, Reetika; Dada, Rima; Mohanty, Kuldeep; Saluja, Daman; Dada, Tanuj

    2013-01-01

    Glaucoma is an irreversible form of optic neuropathy in which the optic nerve suffers damage in a characteristic manner with optic nerve cupping and retinal ganglion cell death. Primary congenital glaucoma (PCG) is an idiopathic irreversible childhood blinding disorder which manifests at birth or within the first year of life. PCG presents with a classical triad of symptoms (viz epiphora, photophobia and blepharospasm) though there are many additional symptoms, including large eye ball and hazy cornea. The only anatomical anomaly found in PCG is trabecular meshwork (TM) dysgenesis. PCG is an inheritable disease with established genetic etiology. It transmits through autosomal recessive mode. A number of cases are sporadic also. Mutations in many genes have been found to be causative in PCG and many are yet to be found. Mutations in cytochrome P4501B1 (CYP1B1) gene have been found to be the predominant cause of PCG. Other genes that have been implicated in PCG etiology are myocilin, Forkhead-related transcription factor C1 (FOXC1) and latent transforming growth factor beta-binding protein 2 (LTBP2). Mutations in these genes have been reported from many parts of the world. In addition to this, mitochondrial genome mutations are also thought to be involved in its pathogenesis. There appears to be some mechanism involving more than one genetic factor. In this review, we will discuss the various clinical, biochemical and genetic aspects of PCG. We emphasize that etiology of PCG does not lie in a single gene or genetic factor. Research needs to be oriented into a direction where gene-gene interactions, ocular embryology, ophthalmic metabolism and systemic oxidative status need to be studied in order to understand this disorder. We also accentuate the need for ophthalmic genetic facilities in all ophthalmology setups. How to cite this article: Faiq M, Sharma R, Dada R, Mohanty K, Saluja D, Dada T. Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma

  13. Clinical features of adult patients with Eisenmenger syndrome associated with different types of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

    Objective To explore the clinical features and hemodynamics of adult patients with Eisenmenger syndrome in different types of congenital heart diseases (CHD) .Methods Patients with Eisenmenger syndrome with different types of CHD diagnosed by right heart

  14. Transgressive first clinical experiences

    DEFF Research Database (Denmark)

    Jensen, Carsten Juul; Jeppesen, Lise Kofoed; Drachmann, Merete

    2014-01-01

    This Study seeks to comprehend learning experiences of nursing students during their first clinical in-service placement. This Paper is part of a longitudinal development project interviewing the Student Nurse after each one of the five clinical in-service placements and then one year after...... to advanced beginner, and adjusting to the workplace community. The conclusion is that the learning of nursing students during their first clinical in-service placement appears informal and not founded on evident best practice....... graduation as a Nurse. The Study has a qualitative methodology, inspired by Michael Eraut’s thoughts on learning in the workplace. When the workplace perspective is applied, learning seems to be concentrated on actual situations which the Learner is in, in contrast to employing constructed concepts...

  15. Diagnosis and treatment of Congenital choledochal cyst:20 years'experience in China

    Institute of Scientific and Technical Information of China (English)

    Liu-BJn Shi; Shu-You Peng; Xing-Kai Meng; Cheng-Hong Peng; Ying-Bin Liu; Xiao-Peng Cheni; Zhen-Ling Ji; De-Tong Yang; Huai-Ren Chen

    2001-01-01

    AIM To summarize the experience of diagnosis and treatment of congenital choledochal cyst in the past 20years ( 1980 2000).``METHODS The clinical data of 108 patients admitted from 1980 to 2000 were analyzed retrospectively.RESULTS Abdominal pain, jaundice and abdominal mass were presented in most child cases. Clinical symptoms in adult cases were non-specific, resulting in delayed diagnosis frequently. Fifty-seven patients (52.7%) had coexistent pancreatiobiliary disease. Carcinoma of the biliary duct occurred in 18 patients (16.6%). Ultrasonic examination was undertaken in 94 cases, ERCP performed in 46 cases and CT in 71 cases. All of the cases were correctly diagnosed before operation. Abnormal pancreatobiliary duct junction was found in .39 patients.Before 1985 the diagnosis and classification of congenital choledochal cyst were established by ultrasonography preoperatively and confirmed during operation, the main procedures were internal drainage by cyst enterostomy.After 1985, the diagnosis was established by ERCP and CT. and cystectomy with Roux-en-Y hepaticojejunostomy was the conventional procedures. In 1994, we reported a new and simplified operative procedure in order to reduce the risk of choledochal cyst malignancy. Postoperative complication was mainly retrograde infection of biliary tract, which could be controlled by the administration of antibiotics, there was no perioperative mortality.``CONCLUSION The concept in diagnosis and treatment of congenital choledochal cyst has obviously been changed greatly. CT and ERCP were of great help in the classification of the disease. Currently, cystectomy with Roux-en-Y hepaticojejunostomy is strongly recommended as the choice for patients with type I and type Ⅳ cysts.Piggyback orthotopic liver transplantation is indicated in type \\ cysts (Carolis disease) with frequently recurrent cholangitis.``

  16. Auricular reconstruction of congenital microtia: personal experience in 225 cases.

    Science.gov (United States)

    Anghinoni, M; Bailleul, C; Magri, A S

    2015-06-01

    Microtia is a congenital disease with various degrees of severity, ranging from the presence of rudimentary and malformed vestigial structures to the total absence of the ear (anotia). The complex anatomy of the external ear and the necessity to provide good projection and symmetry make this reconstruction particularly difficult. The aim of this work is to report our surgical technique of microtic ear correction and to analyse the short and long term results. From 2000 to 2013, 210 patients affected by microtia were treated at the Maxillo-Facial Surgery Division, Head and Neck Department, University Hospital of Parma. The patient population consisted of 95 women and 115 men, aged from 7 to 49 years. A total of 225 reconstructions have been performed in two surgical stages basing of Firmin's technique with some modifications and refinements. The first stage consists in fabrication and grafting of a three-dimensional costal cartilage framework. The second stage is performed 5-6 months later: the reconstructed ear is raised up and an additional cartilaginous graft is used to increase its projection. A mastoid fascial flap together with a skin graft are then used to protect the cartilage graft. All reconstructions were performed without any major complication. The results have been considered satisfactory by all patients starting from the first surgical step. Low morbidity, the good results obtained and a high rate of patient satisfaction make our protocol an optimal choice for treatment of microtia. The surgeon's experience and postoperative patient care must be considered as essential aspects of treatment.

  17. Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

    Science.gov (United States)

    Rasmussen, Sonja A; Hernandez-Diaz, Sonia; Abdul-Rahman, Omar A; Sahin, Leyla; Petrie, Carey R; Keppler-Noreuil, Kim M; Frey, Sharon E; Mason, Robin M; Nesin, Mirjana; Carey, John C

    2014-12-15

    In 2011 and 2012, the Division of Microbiology and Infectious Diseases at the National Institute of Allergy and Infectious Diseases, National Institutes of Health, held a series of meetings to provide guidance to investigators regarding study design of clinical trials of vaccines and antimicrobial medications that enroll pregnant women. Assessment of congenital anomalies among infants born to women enrolled in these trials was recognized as a challenging issue, and a workgroup with expertise in epidemiology, pediatrics, genetics, dysmorphology, clinical trials, and infectious diseases was formed to address this issue. The workgroup considered 3 approaches for congenital anomalies assessment that have been developed for use in other studies: (1) maternal report combined with medical records review, (2) standardized photographic assessment and physical examination by a health professional who has received specific training in congenital anomalies, and (3) standardized physical examination by a trained dysmorphologist (combined with maternal interview and medical records review). The strengths and limitations of these approaches were discussed with regard to their use in clinical trials. None of the approaches was deemed appropriate for use in all clinical trials. Instead, the workgroup acknowledged that decisions regarding the optimal method of assessment of congenital anomalies will likely vary depending on the clinical trial, its setting, and the agent under study; in some cases, a combination of approaches may be appropriate. The workgroup recognized the need for more research on approaches to the assessment of congenital anomalies to better guide investigators in optimal design of clinical trials that enroll pregnant women.

  18. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  19. Congenital posterolateral diaphragmatic hernia : pathophysiological studies and clinical picture

    NARCIS (Netherlands)

    A.P. Bos (Albert)

    1993-01-01

    textabstractCongenital diaphragmatic hernias are classified according to the location of the defect: posterolateral hernia with or without a sac (Bochdalek-type), parasternal hernia through the foramen of Morgagni, central hernia, and diaphragmatic eventration. The so-called hiatal hernia has a diff

  20. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  1. Clinical and laboratory diagnosis of congenital Zika virus syndrome and diaphragmatic unilateral palsy: case report

    Directory of Open Access Journals (Sweden)

    Alex Sandro Rolland Souza

    Full Text Available Abstract Introduction: several birth defects associated to congenital Zika virus infection have been reported, although the clinical features have not been fully characterized. Description: this is the first case report on unilateral diaphragmatic paralysis diagnosed on a neonate with congenital Zika confirmed by the examination of the amniotic fluid through polymerase chain reaction (ZIKV RT-PCR and the examination of cerebrospinal fluid by serological test (IgM ZIKV-ELISA after birth. The main manifestations detected by intrauterine ultrasound were: microcephaly, ventriculomegaly, intracranial calcifications, enlarged cisterna magna, increased amniotic fluid index and fetal akinesia syndrome. The newborn had acute respiratory failure in the first hours of life, requiring mechanical ventila-tion. The X- ray of the chest showed unilateral diaphragmatic paralysis and cardiomegaly. Discussion: diaphragmatic palsy in congenital Zika has not been previously reported, the etiopathogenic mechanisms of this event in congenital Zika virus needs to be elucidated.

  2. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis*

    OpenAIRE

    Li,Hui; Wei, Jun; Ma, Ying; Shang, Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close ...

  3. Congenital portosystemic shunts: Imaging findings and clinical presentations in 11 patients

    Energy Technology Data Exchange (ETDEWEB)

    Konstas, Angelos A., E-mail: akonstas@partners.org [Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit St, Boston, MA 02114 (United States); Digumarthy, Subba R.; Avery, Laura L. [Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit St, Boston, MA 02114 (United States); Wallace, Karen L. [Department of Radiology, Mount Auburn Hospital and Harvard Medical School, 330 Mount Auburn St, Cambridge, MA 02138 (United States); Lisovsky, Mikhail; Misdraji, Joseph [Department of Pathology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit St, Boston, MA 02114 (United States); Hahn, Peter F. [Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit St, Boston, MA 02114 (United States)

    2011-11-15

    Objective: To evaluate the clinical anatomy and presentations of congenital portosystemic shunts, and determine features that promote recognition on imaging. Materials and methods: Institutional review board approval was obtained for this HIPAA-compliant study. The requirement for written informed consent was waived. Radiology reports were retrospectively reviewed from non-cirrhotic patients who underwent imaging studies from January 1999 through February 2009. Clinical sources reviewed included electronic medical records, archived images and histopathological material. Results: Eleven patients with congenital portosystemic shunts were identified (six male and five female; age range 20 days to 84 years). Seven patients had extrahepatic and four patients had intrahepatic shunts. All 11 patients had absent or hypoplastic intrahepatic portal veins, a feature detected by CT and MRI, but not by US. Seven patients presented with shunt complications and four with presentations unrelated to shunt pathophysiology. Three adult patients had four splenic artery aneurysms. Prospective radiological evaluation of five adult patients with cross-sectional imaging had failed prospectively to recognize the presence of congenital portosystemic shunts on one or more imaging examinations. Conclusions: Congenital portosystemic shunts are associated with splenic artery aneurysms, a previously unrecognized association. Portosystemic shunts were undetected during prospective radiologic evaluation in the majority of adult patients, highlighting the need to alert radiologists to this congenital anomaly.

  4. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The el

  5. [Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children

    NARCIS (Netherlands)

    Verheul, J.C.; Ris-Stalpers, C.; Bikker, H.; Bakker-van Waarde, W.M.; Noordam, C.

    2011-01-01

    OBJECTIVE: To describe the clinical features and relevant genetic mutations in 22 children with congenital hyperinsulinism in the north-east Netherlands. DESIGN: Retrospective, descriptive study. METHOD: Children born between June 1988 and June 2009, who were presented at the academic medical centre

  6. Transfer to Adult Care--Experiences of Young Adults with Congenital Heart Disease.

    Science.gov (United States)

    Asp, Ann; Bratt, Ewa-Lena; Bramhagen, Ann-Cathrine

    2015-01-01

    More than 90% of children born with congenital heart disease survive into adulthood due to successes of cardiac surgery and medical management. Interviews with 16 young adults with congenital heart disease to explore their experiences of transfer from pediatric to adult care were performed. The analysis identified five themes; Feeling secure during the transfer process, Experiencing trust in the care, Expecting to be involved, Assuming responsibility for one's health is a process and Lack of knowledge leads to uncertainty. In conclusion; a structured and gradual transfer process was necessary to enable the informants to shoulder the responsibility for self-care.

  7. A Proposed Mechanism for Congenitally Missing Teeth: Basic and Clinical Evidence

    Directory of Open Access Journals (Sweden)

    Gajanan Kulkarni

    2011-05-01

    Full Text Available Introduction: Although the de-velopment of normal dentition has been explored extensively, the mechanisms underlying congenitally missing teeth are far less understood.The hypothesis: Congenital absence of teeth occurs due to arrested development of a tooth primordium followed by involution, only at a stages preceding mineralized tissue formation.Evaluation of the hypothesis: We compared H & E stained serial sagittal sections of wild-type and EL mice that are congenitally missing 3rd molars (3M. 3M development was followed longitudinally in both types of mice. Occurrence of apoptosis was examined using a fluorescent TUNEL assay. To determine if a similar process might account for congenital ab-sence of human teeth, we examined serial radiographs of developing dentitions. In EL mice, congenital absence of 3M is caused, not by a failure of initiation of tooth development rather; tooth development is initiated and subsequently ar-rested during early cap stage. This arrested tooth primordium is subsequently removed physiologically by apoptosis. Examination of serial radiographs where missing teeth were identified lent further evi-dence to support this hypothesis. Follicle spaces, with no calcified tissue within them, were noted at early stages which were seen to remodel and eventually blend with adjacent bone. Permanent teeth failed to develop in those locations. Based on the animal and human data, we propose a new model for congenital absence of teeth. Validation of this model could have profound clinical implications. If the genetic me-chanisms involved in this proposed mechanism can be elucidated, it might lead to non-surgical management of supernumerary teeth.

  8. Experience of a single center with congenital hepatic fibrosis:A review of the literature

    Institute of Scientific and Technical Information of China (English)

    Ali; Shorbagi; Yusuf; Bayraktar

    2010-01-01

    Congenital hepatic fibrosis(CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts.It is one of the fibropolycystic diseases,which also include Caroli disease,autosomal dominant polycystic kidney disease,and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis,portal hypertension,and renal cystic disease.CHF is known to occur in association with a ran...

  9. Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.

    Science.gov (United States)

    Koh, Ji Won; Kim, Gu Hwan; Yoo, Han Wook; Yu, Jeesuk

    2013-11-01

    Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (Pcongenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.

  10. Pediatric and congenital heart transplant: twenty-year experience in a tertiary Brazilian Hospital

    OpenAIRE

    Leonardo Augusto Miana; Estela Azeka; Luiz Fernando Canêo; Aída Luisa Turquetto; Carla Tanamati; Juliano Gomes Penha; Alexandre Cauduro; Marcelo Biscegli Jatene

    2014-01-01

    Introduction: Cardiac transplantation remains the gold standard for end-stage cardiomyopathies and congenital heart defects in pediatric patients. Objective: This study aims to report on 20 years of experience since the first case and evaluate our results. Methods: We conducted a retrospective analysis of the database and outpatient follow-up. Between October 1992 and April 2012, 109 patients underwent 114 transplants. 51.8% of them being female. The age of patients ranged from 12 days to...

  11. 2013 update on congenital heart disease, clinical cardiology, heart failure, and heart transplant.

    Science.gov (United States)

    Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel

    2014-03-01

    This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices.

  12. Clinical and morphological variants of hepatitis onset with congenital cytomegalovirus and hepatitis C infection

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    R. A. Ushakova

    2013-01-01

    Full Text Available We present comparative analysis of clinical – morphological data from infants with congenital cytomegalovirus and hepatitis C infection. 97 patients with hepatitis underwent a standard set of clinical and laboratory tests. ELISA and PCR were used to verify infectious agents. Informed consent to perform a liver biopsy was obtained from the parents of 28 children. immunohistochemical test of the liver samples managed to identify markers of cytomegalovirus (protein pp65 and p52 and hepatitis C (helicase NS3. The hepatitis C virus was detected in 41 patients: 3a genotype – 68.3%, 1b –31.7% respectively. Congenital hepatitis C onset presents itself as mild and atypical and causes chronic hepatitis with the 1st degree fibrosis. Cytomegalovirus replication markers were found in 56 children. The most common manifestations of hepatitis associated with cytomegalovirus infection are prolonged jaundice, cholestasis, gepatolienalny syndrome, early onset of the disease with increased transaminase levels and dominance in AST. Structural changes of the liver are characterized by the presence of inflammatory infiltration, cholestasis with duktulopenia, lobular structure damage. Congenital cytomegalovirus-related hepatitis is likely to result in liver cirrhosis and is associated with poor prognosis.

  13. Radiological and clinical outcome after operations in patients with congenital deficiencies of the wrist and hand

    Energy Technology Data Exchange (ETDEWEB)

    Schmelzer-Schmied, Nicole; Jung, Martin [Department of Orthopedic Surgery, University of Heidelberg (Germany); Ludwig, Karl, E-mail: karl.ludwig@klinikum-herford.de [Department of Diagnostic and Interventional Radiology, Klinikum Herford (Germany)

    2011-02-15

    Purpose: To evaluate the incidence, therapy results, complications and radiologic workup of operatively treated congenital disorders of the hand and wrist in a large university center during a 10-year period. Methods: The institutional database was retrospectively analysed for patients with congenital disorders of the hand and wrist treated operatively during a 10-year period (1998-2007). Disorders were classified according to Van Schoonhoven into 11 different entities. For each entity the incidence, the patients' age at the time of operation, the pre- and postoperative clinical and radiological workup and the frequency of complications and reoperations were evaluated. Results: A total of 278 patients was treated operatively for congenital disorders of the hand and wrist with syndactyly being present in 112, thumb hypoplasia in 15, polydactyly in 11, radial clubhand in 7, radioulnar synostosis in 6, clinodactyly in 6, thumb duplication in 6, brachydactyly in 4 and macrodactyly in 4 cases. Patients' age at the time of operation varied substantially between the different entities with a mean age between 0.9 and 6.2 years. There were 9 complications (3%, n = 278) - all of them infections. There were 28 reoperations (10%, n = 278), 13 of them (5%, n = 278) due to reoccurring webs in syndactyly. Conclusion: Congenital disorders of the hand and wrist include various rare diseases with syndactyly and thumb hypoplasia being the most frequent entities. As a rule, diagnosis is obtained clinically. Radiologic workup typically consists of plain radiography. Complications are rare, whereas reoperations are frequent, mostly due to reoccurring webs in syndactyly.

  14. Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness

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    Cammack J

    2016-08-01

    Full Text Available Jocelyn Cammack,1 John Whight,2 Vinette Cross,3 Andrew T Rider,1 Andrew R Webster,1,2 Andrew Stockman1 1Department of Visual Neuroscience, UCL Institute of Ophthalmology, 2Moorfields Eye Hospital, London, 3Centre for Health and Social Care Improvement, University of Wolverhampton, Wolverhampton, UK Abstract: An appreciation of the relation between laboratory measures of visual deficit and everyday perceptual experience is fundamental to understanding the impact of a visual condition on patients and so to a fuller characterization of the disorder. This study aims to understand better the interpretative processes by which modified sensory information is perceived by a patient with congenital stationary night blindness and the adaptive strategies that are devised to deal with their measurable visual loss. Psychophysical measurements of temporal resolution, spectral sensitivity, and color discrimination were conducted on a 78-year-old male patient with the condition, who was also interviewed at length about the ways in which his diagnosis affected his daily life. Narrative analysis was employed to identify the relation between his subjective perceptual experiences and functional deficits in identifiable components of the visual system. Psychophysical measurements indicated a complete lack of rod perception and substantially reduced cone sensitivity. Two particular effects of this visual loss emerged during interviews: 1 the development of navigational techniques that relied on light reflections and point sources of light and 2 a reluctance to disclose the extent of visual loss and resulting lifelong psychosocial consequences. This study demonstrates the valuable complementary role that rich descriptive patient testimony can play, in conjunction with laboratory and clinical measurements, in more fully characterizing a disorder and in reaching a more complete understanding of the experience of vision loss. It also evidences the particular

  15. [Congenital cystic lung lesions--review of the literature with three clinical cases].

    Science.gov (United States)

    Slancheva, B; Hitrova, S; Markov, D; Vakrilova, L; Pramatarova, T; Yarukova, N; Brankov, O

    2013-01-01

    Congenital cystic lung lesions are rare. Mainly affects the lower respiratory patishta.i are congenital cystic malformation and adematozna bronchopulmonary sequestration (BPS). The pathogenesis of the occurrence of these malformations is not clear but they have a common clinical course. In most cases, the anomaly is asymptomatic and occurs with infections of the lung during the first year of life. Currently congenital lung lesions were classified into five types and is considered by most authors. The anomaly is due to the abnormal proliferation of terminal bronchioles accompanied by inhibition of alveolar development between 7-17 weeks, obstructed airway dysplasia and metaplasia of normal lung tissue. Early diagnosis is vital in making a medical decision on how to treat CCAM. Associated with abnormalities of the urinary tract, cardiovascular system, gastrointestinal atresia, diaphragmatic hernia skeletal abnormalities. In pregnancies in which prenatal lung lesions weighs registered necessary series of ultrasound examinations to track finding and using the Doppler to assess how the blood supply of the fault. The clinical presentation of malformations is respiratory distress, respiratory infection, and dyspnea. The use of CT and MRA allows better visualization of the pulmonary lesions. With its combination with arteriography and bronchoscopy are used to differentiate CCAM and pulmonary sequestration. We present three cases with lung lesions were born in Neonatologia clinic at the University Hospital of Obstetrics and Gynecology "Maternity" Sofia for the period 2010-2012 three cases CCAMs type 1, operated by 5 meters after birth with a good final outcome without complications in the postoperative period and lack of pulmonary symptoms up to 1 year after birth.

  16. Interruption or congenital stenosis of the inferior vena cava: Prevalence, imaging, and clinical findings

    Energy Technology Data Exchange (ETDEWEB)

    Koc, Zafer [Baskent University, School of Medicine, Department of Radiology, Adana (Turkey)]. E-mail: koczafer@gmail.com; Oguzkurt, Levent [Baskent University, School of Medicine, Department of Radiology, Adana (Turkey)

    2007-05-15

    Objective: To present the prevalence, clinical, and imaging findings of interruption or congenital stenotic lesions of the inferior vena cava (IVC), associated malformations, and their clinical relevance. Materials and methods: Between March 2004 and March 2006, 7972 patients who had undergone consecutive routine abdominal multidetector row computed tomography were analyzed for interruption or stenotic lesion of the IVC. Results: Prevalence of interruption (n = 8) or congenital stenosis (n = 4) of the IVC occurred in 12 (0.15%) of 7972 patients. Four patients with interruption and four patients with congenital stenosis of the IVC were symptomatic with DVT (n = 4), leg swelling (n = 4), leg pain (n = 2), lower extremity varices (n = 2), hepatic vein thrombosis (n = 1), and hematochezia (n = 1). All four of the asymptomatic patients were from the interruption group, and these patients had interrupted IVC with well-developed azygos/hemiazygos continuation. Eight symptomatic patients did not have a well-developed azygos/hemiazygos continuation, and drainage of lower extremity was mainly from collateral veins. Additional findings in eight symptomatic patients were abdominal venous collaterals (n = 8), venous aneurysm (n = 2), lower extremity varices (n = 2), varicocele (n = 2), and pelvic varices (n = 1). Conclusion: Interruption or stenosis of the IVC are rare on routine abdominal CT examinations and may cause different clinical findings depending on the variant drainage patterns or collaterals. Interrupted IVC is commonly asymptomatic if associated with well-developed azygos/hemiazygos continuation, whereas commonly symptomatic if well-developed azygos/hemiazygos continuation is not present.

  17. Low-dose fetal CT for evaluation of severe congenital skeletal anomalies: preliminary experience

    Energy Technology Data Exchange (ETDEWEB)

    Victoria, Teresa; Epelman, Monica; Johnson, Ann M.; Kramer, Sandra; Jaramillo, Diego [Children' s Hospital of Philadelphia, Diagnostic Imaging, Philadelphia, PA (United States); Bebbington, Michael [Children' s Hospital of Philadelphia, Center for Fetal Diagnosis and Treatment, Philadelphia, PA (United States); Wilson, R.D. [University of Calgary, Obstetrics and Gynecology, Calgary (Canada)

    2012-01-15

    Congenital skeletal abnormalities compose a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Prenatal sonographic diagnosis of these anomalies is challenging because of the relative rarity of each skeletal dysplasia, the multitude of differential diagnoses encountered when the bony abnormalities are identified, lack of precise molecular diagnosis and the fact that many of these disorders have overlapping features and marked phenotypic variability. The following review is a preliminary summary of our experience at the Children's Hospital of Philadelphia (CHOP) using low-dose fetal CT in the evaluation of severe fetal osseous abnormalities. (orig.)

  18. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

    Science.gov (United States)

    Castori, M; Morlino, S; Sana, M E; Paradisi, M; Tadini, G; Angioni, A; Malacarne, M; Grammatico, P; Iascone, M; Forzano, F

    2016-08-01

    Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Extensive molecular studies of both patients excluded mutations in all the known genes associated with PPK and partially overlapping syndromes. The striking similarities between these two patients confirm PPKCA2 as a discrete genodermatosis, of which the main features are congenital and universal alopecia, diffuse keratosis pilaris, facial erythema, and a specific PPK with predominant involvement of the fingertips and borders of the hands and feet, with evolution of sclerodactyly, contractures and constrictions. Clinical follow-up of these patients has demonstrated progressive worsening of the hand involvement and attenuation of facial erythema.

  19. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

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    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  20. Pediatric and congenital heart transplant: twenty-year experience in a tertiary Brazilian Hospital

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    Leonardo Augusto Miana

    2014-09-01

    Full Text Available Introduction: Cardiac transplantation remains the gold standard for end-stage cardiomyopathies and congenital heart defects in pediatric patients. Objective: This study aims to report on 20 years of experience since the first case and evaluate our results. Methods: We conducted a retrospective analysis of the database and outpatient follow-up. Between October 1992 and April 2012, 109 patients underwent 114 transplants. 51.8% of them being female. The age of patients ranged from 12 days to 21 years with a mean of 8.8±5.7 years and a median of 5.2 years. The underlying diagnosis was dilated cardiomyopathy in 61.5%, congenital heart disease in 26.6% and restrictive cardiomyopathy in 11.9%. All patients above 17 years old had congenital heart disease. Results: Survival rate at 30 days, 1, 5, 10, 15, and 20 years were 90.4%, 81.3%, 70.9%, 60.5%, 44.4% and 26.7%, respectively. Mean cold ischemic time was 187.9 minutes and it did not correlate with mortality (P>0.05. Infectious complications and rejection episodes were the most common complications (P<0.0001, occurring, respectively, in 66% and 57.4% of the survivors after 10 years. There was no incidence of graft vascular disease and lymphoproliferative disease at year one, but they affected, respectively, 7.4% and 11% of patients within 10 years. Conclusion: Twenty-year pediatric heart transplant results at our institution were quite satisfactory and complication rates were acceptable.

  1. Congenital massive hiatus hernia type IV; initial experience with laparoscopic repair in young infant.

    Science.gov (United States)

    Bataineh, Z A; Rousan, L A; Abu Baker, A; Wahdow, H; Kiwan, R N; Saleem, M M

    2014-06-01

    Congenital massive hiatus hernia (CMHH) is an uncommon disorder during childhood. It can be associated with grave complications especially if presented in the highest grade; type IV, when the hernia contains other intra-peritoneal organ beside the stomach through a large hiatus defect. The insidious form of clinical presentation can be deceptive in diagnosis and may mimic congenital diaphragmatic hernia or other chest pathologies. The basic principle of surgical repair is to reduce the herniated organs, excise the hernia sac, and repair the crural defect and to add anti-reflux procedure with or without gastropexy. Traditionally, this has been done by open approach. Nowadays, the minimally invasive approach is the preferred method of treatment. A sixteen-month-old boy with history of recurrent respiratory symptoms was diagnosed with CMHH type IV for which laparoscopic repair was performed. Few reports in using minimally invasive technique in the management of CMHH in the pediatric age group are present in the literature, to the best of our knowledge type IV had never been described in young infants. We present a new case repaired by laparoscope in a young infant with CMHH type IV from the Middle East.

  2. Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

    Directory of Open Access Journals (Sweden)

    Goffinet François

    2011-10-01

    Full Text Available Abstract Background Classification of the overall spectrum of congenital heart defects (CHD has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex associations. The purpose of our study was to establish a comprehensive and easy-to-use classification of CHD for clinical and epidemiological studies based on the long list of the International Paediatric and Congenital Cardiac Code (IPCCC. Methods We coded each individual malformation using six-digit codes from the long list of IPCCC. We then regrouped all lesions into 10 categories and 23 subcategories according to a multi-dimensional approach encompassing anatomic, diagnostic and therapeutic criteria. This anatomic and clinical classification of congenital heart disease (ACC-CHD was then applied to data acquired from a population-based cohort of patients with CHD in France, made up of 2867 cases (82% live births, 1.8% stillbirths and 16.2% pregnancy terminations. Results The majority of cases (79.5% could be identified with a single IPCCC code. The category "Heterotaxy, including isomerism and mirror-imagery" was the only one that typically required more than one code for identification of cases. The two largest categories were "ventricular septal defects" (52% and "anomalies of the outflow tracts and arterial valves" (20% of cases. Conclusion Our proposed classification is not new, but rather a regrouping of the known spectrum of CHD into a manageable number of categories based on anatomic and clinical criteria. The classification is designed to use the code numbers of the long list of IPCCC but can accommodate ICD-10 codes. Its exhaustiveness, simplicity, and anatomic basis make it useful for clinical and epidemiologic studies, including those aimed at assessment of risk factors and outcomes.

  3. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  4. The clinical experience of cardiopulmonary bypass in pediatric congenital heart disease complicated by infective endocarditis%小儿先心病并感染性心内膜炎手术治疗中的体外循环技术

    Institute of Scientific and Technical Information of China (English)

    汪力; 皮名安; 龚立; 王涛

    2011-01-01

    目的 总结2002年1月至2011年4月作者收治的15例先天性心脏病合并感染性心内膜炎( infective endocarditis,IE)患儿手术治疗中的体外循环经验(cardiopulmonary bypass,CPB).方法 15例患儿均采用浅低温(28℃~30℃)、较高流量[2.4~3.2 L/(min·m2)]灌注.手术方式为畸形矫治(ASD/VSD修补、右室流出道重建)、赘生物摘除、瓣膜整形或置换术.心肌保护采用4℃冷含血晶体保护液顺行灌注.结果 15例患儿CPB总时间85~ 180 min,主动脉阻断时间40~120 min,均顺利脱离CPB.均获痊愈.1例术后2年死于肺部感染及心功能衰竭.结论 CPB中HCT及胶体渗透压的良好控制、采用平衡超滤结合改良超滤、肝素化后监测ACT、CPB中加入敏感抗生素等对患儿术后恢复至关重要.%Objective To summarize retrospectively the clinical experience of cardiopulmonary bypass (CPB)in pediatric congenital heart disease (CHD) complicated by infective endocarditis (IE) from January 2002 to April 2011(15 cases). Methods CPB was performed with Shallow low temperature(28℃ ~30℃) and high flow rate [2. 4 ~3.21/(min·M2) ] perfusion. Operation method for Correcting the heart abnormality (ASD/VSD repaired., Right ventricular outflow reconstructed), excrescence excision, valve plastic or replacement. 4℃ cold crystalloid with blood was perfused by antegrade perfusion for myocardial protection. Result-s Among the total time CPB 85 ~ 180 min, aortic blocking time 40 ~ 120 min, 15 cases of patients were smoothly disconnected from CPB. All cases recovered completely. 1 case died in lyear due to heart failure. Conclusion The important factors in CPB are the good adjustment in colloid osmotic pressure( COP) and hem-atocrit( HCT) ,Balance ultrafiltration( BUF) and modified ultrafiltration( MUF) .monitor of activated clotting time (ACT) .sensitive antibiotics used in priming liquid.

  5. The Burden of Care: Mothers’ Experiences of Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Sakinne Sabzevari

    2016-10-01

    Full Text Available Background: Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. Methods: A conventional content analysis was used to obtain rich data. The goal of content analysis is “to provide knowledge and deeper understanding of the phenomenon under the study”. The study was conducted in Kerman, Iran in 2014, on mothers of children with CHD. The purposive sampling technique was used to select the participants. Participants were 14 mothers of children with CHD and one father and one nurse of open heart surgery unit, from two hospitals affiliated with Kerman University of Medical Sciences. Eighteen semi-structured interviews were constructed. Data were analyzed using conventional content analysis. MAXQDA 2007 software (VERBI GmbH, Berlin, Germany was used to classify and manage the coding. Constant comparative method was done for data analysis. The reliability and validity of the findings, including the credibility, confirm ability, dependability, and transferability, were assessed. Results: According to the content analysis, the main theme was the catastrophic burden of child care on mothers that included three categories: 1 the tension resulting from the disease, 2 involvement with internal thoughts, and 3 difficulties of care process Conclusion: The results of this study may help health care professionals to provide supportive and educational packages to the patients, mothers and Family members until improving the management of patient’s care.

  6. The Burden of Care: Mothers’ Experiences of Children with Congenital Heart Disease

    Science.gov (United States)

    Sabzevari, Sakinne; Nematollahi, Monirsadat; Mirzaei, Tayebeh; Ravari, Ali

    2016-01-01

    ABSTRACT Background: Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. Methods: A conventional content analysis was used to obtain rich data. The goal of content analysis is “to provide knowledge and deeper understanding of the phenomenon under the study”. The study was conducted in Kerman, Iran in 2014, on mothers of children with CHD. The purposive sampling technique was used to select the participants. Participants were 14 mothers of children with CHD and one father and one nurse of open heart surgery unit, from two hospitals affiliated with Kerman University of Medical Sciences. Eighteen semi-structured interviews were constructed. Data were analyzed using conventional content analysis. MAXQDA 2007 software (VERBI GmbH, Berlin, Germany) was used to classify and manage the coding. Constant comparative method was done for data analysis. The reliability and validity of the findings, including the credibility, confirm ability, dependability, and transferability, were assessed. Results: According to the content analysis, the main theme was the catastrophic burden of child care on mothers that included three categories: 1) the tension resulting from the disease, 2) involvement with internal thoughts, and 3) difficulties of care process Conclusion: The results of this study may help health care professionals to provide supportive and educational packages to the patients, mothers and Family members until improving the management of patient’s care. PMID:27713900

  7. Clinical experience with pegaptanib sodium

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    Chiara Rosina

    2008-10-01

    Full Text Available Chiara Rosina, Ferdinando Bottoni, Giovanni StaurenghiLuigi Sacco Hospital, University of Milano, ItalyAbstract: Pegaptanib sodium (Macugen® blocks the extracellular vascular endothelial growth factor (VEGF isoform VEGF165, whose elevated levels are associated with the development of choroidal neovascularization (CNV. This selective inhibition prevents binding to the VEGF receptors and the development of the increased vascular permeability and the CNV associated with neovascular age-related degeneration (AMD. The VEGF Inhibition Study In Ocular Neovascularization (VISION demonstrated that pegaptanib sodium confers clinically meaningful benefit in the treatment of all angiographic subtypes of neovascular AMD. It also has a favorable safety profile after 1 and 2 years of continuous treatment, and recent data suggest that the agent has a disease-modifying effect. Post hoc analysis of VISION suggests that treatment benefit may be greatest in patients with early lesions, in whom 80% achieved the primary endpoint of <15 letters lost, 47% maintained visual acuity (VA, and 20% gained ≥15 letters of vision. Similarly, our own clinical experience indicates that pegaptanib sodium achieves better outcomes in early lesions than in established lesions, particularly in patients with previously untreated minimally classic and occult lesions in whom VA improvement and lesion size stabilization has been recorded. Observations indicate that pegaptanib sodium has a slower mode of action than unselective VEGF inhibitors, resulting in an average of 3–4 injections being required to stabilize VA and lesion size. Pegaptanib sodium has good efficacy and safety profiles and represents a good treatment option for patients with early CNV membranes associated with neovascular AMD.Keywords: vascular endothelial growth factor (VEGF, choroidal neovasularization (CNV, age-related macular degeneration (AMD, pegaptanib sodium, early lesions, visual acuity (VA

  8. Determination of the prevalence of congenital heart disease in the patients admitted to the heart clinic

    Institute of Scientific and Technical Information of China (English)

    Shokoufeh Ahmadipour; Behzad Mohammadpour Ahranjani; Sara Daeichin; Zahra Mirbeig Sabzevari

    2015-01-01

    Objective:To investigate the prevalence of congenital heart disease (CHD) among the patients who refferred to the heart clinic so as to make an early and correct diagnosis. Methods: In this descriptive-cross sectional study, all the patients admitted to the heart clinic who had symptoms or signs ofCHDwere included. The data were collected in one year based on the medical records. The main variables consisted of age, gender, history of folic acid consumption by the mother in pregnancy, clinical signs, symptoms and so on. Results: Among the 763 admitted patients, 498 were males and the rest were females. Infants were the most common group and teenagers were the least one. The most common findings for which the patients had been referred were chest pain and a murmur heard during a normal physical examination. Based on the echocardiography findings, ventricular and atrial septal defects were the most common ones. The history of folic acid consumption was negative in 168 mothers within their pregnancy. Conclusions: Since the causes and risk factors in the incidence ofCHD in children are numerous, we recommended that the information about these diseases should be given to the community and strengthen the referral system, design registration system ofCHD set up in the country round.

  9. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

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    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  10. Absence of Clinical and Hemodynamic Consequences due to Posterior Tibial Artery Congenital Aplasia

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    Georgios Karaolanis

    2015-01-01

    Full Text Available The exact knowledge of popliteal artery and its branches’ anatomic variations is important for the clinical practice of angiology, vascular surgery, and interventional procedures. Congenital absence of the artery leads, in some cases, to early malformations of the extremity in the childhood; however, it may also remain asymptomatic. We present an unusual case of a 76-year-old male patient complaining of paraesthesia in both limbs and bilateral aplasia of posterior tibial artery (PTA. Physical examination, ankle-brachial indexes, before and after exercise, arterial duplex scan, and magnetic resonance arteriography were performed. Arterial pulses for PTA at the level of the ankle were normal; arterial duplex study showed biphasic arterial flow at the level of the ankle. Color duplex ultrasound as well as magnetic resonance arteriography revealed the absence of the PTA in both limbs. The vascularization of the fibula was bilaterally normal. The patient underwent also neurological examination and electromyography, which were normal. The evaluation of the possible clinical signs and symptoms and the hemodynamic consequences of this condition are further discussed.

  11. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

    Science.gov (United States)

    Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran; Fatima, Saleel; Alzahrani, Ali; Hafez, Mona; Musa, Noha; Razzghy Azar, Maryam; Khaloul, Najoua; Gribaa, Moez; Saad, Ali; Charfeddine, Ilhem Ben; Bilharinho de Mendonça, Berenice; Belgorosky, Alicia; Dumic, Katja; Dumic, Miroslav; Aisenberg, Javier; Kandemir, Nurgun; Alikasifoglu, Ayfer; Ozon, Alev; Gonc, Nazli; Cheng, Tina; Kuhnle-Krahl, Ursula; Cappa, Marco; Holterhus, Paul-Martin; Nour, Munier A; Pacaud, Daniele; Holtzman, Assaf; Li, Sun; Zaidi, Mone; Yuen, Tony; New, Maria I

    2017-03-07

    Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11β-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11β-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11β-hydroxylase deficiency CAH.

  12. Predictors of prognosis in neonates with congenital diaphragmatic hernia: experience of 12 years

    Directory of Open Access Journals (Sweden)

    Catarina Granjo Morais

    2017-01-01

    Full Text Available Introduction: Congenital diaphragmatic hernia (CDH is a severe malformation, displaying relevant mortality and morbidity rates in newborns.Aim: To characterize clinically and demographically all neonatal cases of CDH admitted to a level III Neonatal Intensive Care Unit during a 12-year period and to evaluate the predictive value of baseline characteristics on mortality and morbidity at discharge.Methods: Maternal/infant clinical and electronic records were ret-rospectively reviewed. All neonates with posterolateral CDH admitted between January 2003 and December 2014 were included.Results: Fifty-three newborns were included. Overall mortality during hospitalization was 22/53 (41.5%. Clinical characteristics associated with mortality were the presence of intrathoracic liver (p = 0.005, intrathoracic stomach (p = 0.015, elevated arterial pCO2 or lower pH values at admission (respectively, p = 0.001 and p < 0.001, pre-ductal oxygen saturation < 85% at admission (p = 0.012 and surgical repair with prosthetic patch (p = 0.041. Morbidity at discharge was reported in 7 (22.6% survivors. Stomach herniation and sepsis were associated with higher morbidity (respectively, p = 0.012 and p = 0.029. In a logistic regression, patch repair was the only variable with predictive value for death during hospitalization, with an odds ratio (OR of 15 (95% CI 0.98-228.9, and intrathoracic stomach was a predictor of morbidity at discharge (OR = 15.7, 95% CI 1.4-174.2.Conclusion: Structural characteristics, namely defect size and presence of intrathoracic stomach, remain the primary determinants of neonatal prognosis in CDH. Although post-natal approaches have progressively proven their value in increasing survival and improving management of high-risk cases, future researches should continue focusing on the definition of foetal anatomical markers of severity and prenatal treatment of CDH.

  13. Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia.

    Science.gov (United States)

    Martín, Silvia; Muñoz, Liliana; Pérez, Adriana; Sobrero, Gabriela; Picotto, Gabriela; Ochetti, Mariana; Carpentieri, Agata; Silvano, Liliana; de Barboza, Gabriela Díaz; Signorino, Malvina; Rupérez, Casilda; Bertolotto, Patricia; Ulla, María Rosa; Pellizas, Claudia; Montesinos, María; Tolosa de Talamoni, Nori; Miras, Mirta

    2014-11-01

    Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency need glucocorticoid (GC) therapy, which alters bone mineral metabolism. We analyze clinical and biochemical parameters and different polymorphisms of candidate genes associated with bone mineral density (BMD) in CAH patients. The CAH patients treated with GC and healthy controls were studied. Anthropometric parameters, biochemical markers of bone turnover, and BMD were evaluated. Polymerase chain reaction technique was used to genotype different candidate genes. The 192-192 genotype frequency (IGF-I) was lower in poorly controlled patients than that from controls. In CAH patients, FF genotype (vitamin D receptor, VDR) correlated with lower lumbar spine BMD and there was a significant association between the 0-0 genotype (IGF-I) and high values of β-CrossLaps and a low total BMD. This study contributes to understanding of the association of genetic determinants of BMD with the variable response to GC treatment in CAH patients and demonstrates the usefulness of these genetic polymorphisms.

  14. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

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    L. M. Pérez-López

    2015-01-01

    Full Text Available Introduction. Congenital insensitivity to pain and anhidrosis (CIPA or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA for nerve growth factor (NGF. Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1 early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2 bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.

  15. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

    Science.gov (United States)

    Mathur, R; Kabra, M; Menon, P S

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.

  16. Computational modelling for congenital heart disease: how far are we from clinical translation?

    Science.gov (United States)

    Biglino, Giovanni; Capelli, Claudio; Bruse, Jan; Bosi, Giorgia M; Taylor, Andrew M; Schievano, Silvia

    2017-01-01

    Computational models of congenital heart disease (CHD) have become increasingly sophisticated over the last 20 years. They can provide an insight into complex flow phenomena, allow for testing devices into patient-specific anatomies (pre-CHD or post-CHD repair) and generate predictive data. This has been applied to different CHD scenarios, including patients with single ventricle, tetralogy of Fallot, aortic coarctation and transposition of the great arteries. Patient-specific simulations have been shown to be informative for preprocedural planning in complex cases, allowing for virtual stent deployment. Novel techniques such as statistical shape modelling can further aid in the morphological assessment of CHD, risk stratification of patients and possible identification of new ‘shape biomarkers’. Cardiovascular statistical shape models can provide valuable insights into phenomena such as ventricular growth in tetralogy of Fallot, or morphological aortic arch differences in repaired coarctation. In a constant move towards more realistic simulations, models can also account for multiscale phenomena (eg, thrombus formation) and importantly include measures of uncertainty (ie, CIs around simulation results). While their potential to aid understanding of CHD, surgical/procedural decision-making and personalisation of treatments is undeniable, important elements are still lacking prior to clinical translation of computational models in the field of CHD, that is, large validation studies, cost-effectiveness evaluation and establishing possible improvements in patient outcomes. PMID:27798056

  17. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

    Science.gov (United States)

    Pérez-López, L. M.; Cabrera-González, M.; Gutiérrez-de la Iglesia, D.; Ricart, S.; Knörr-Giménez, G.

    2015-01-01

    Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures. PMID:26579324

  18. Clinical Characteristic and Outcome of Acute Lower Respiratory Tract Infection in Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Krystle Gabriela

    2015-09-01

    Full Text Available Background: Acute Lower Respiratory Tract Infection (ALRTI is the leading cause of deaths in children under 5 years of age worldwide, and has high morbidity and mortality in children with Congenital Heart Disease (CHD. The objective of this study was to obtain the incidence, clinical characteristic, and outcome of ALRTI children with CHD. Methods: A retrospective hospital-based study was conducted from January 2007–December 2011 to medical record of child patients with ALRTI and CHD in the Department of Child Health of Dr. Hasan Sadikin General Hospital, Bandung. The diagnosis of CHD was determined by echocardiography. The collected data was analyzed and presented in percentage shown in tables. Results : From 3,897 children who had ALRTI, there were 149 children with CHD (3.8%, with 11.4% of whom founded with recurrent episodes. This happened often in girls than boys with quite similar ratio of 1.37: 1.The majority of children (80% was under 1 year old of age, 72.5% with malnutrition, and 24.8% with severe malnutrition. Clinical symptoms mostly found were difficulty of breathing (98%, fever (85.2%, cough (75.2%, and runny nose (63.1%. The most common types of CHD were Patent Ductus Arteriosus (47.6%, followed by Ventricular Septal Defect (47%. Bronchopneumonia (86.6% was the common type of ALRTI. The length of stay was mostly less than 10 days (70.5%. From all the children 43.7% had complications, and 6.7% died. Conclusions: The ALRTI in children with CHD is not common and has good outcome. The majority for CHD lesions are Patent Ductus Arteriosus and Ventricular Septal Defect while for ALRTI is Bronchopneumonia.

  19. Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.

    Science.gov (United States)

    Brioude, Frédéric; Bouligand, Jérôme; Trabado, Séverine; Francou, Bruno; Salenave, Sylvie; Kamenicky, Peter; Brailly-Tabard, Sylvie; Chanson, Philippe; Guiochon-Mantel, Anne; Young, Jacques

    2010-05-01

    Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin secretion, and it is characterized by impaired pubertal development. CHH is caused by defective GNRH release, or by a gonadotrope cell dysfunction in the pituitary. Identification of genetic abnormalities related to CHH has provided major insights into the pathways critical for the development, maturation, and function of the reproductive axis. Mutations in five genes have been found specifically in Kallmann's syndrome, a disorder in which CHH is related to abnormal GNRH neuron ontogenesis and is associated with anosmia or hyposmia. In combined pituitary hormone deficiency or in complex syndromic CHH in which gonadotropin deficiency is either incidental or only one aspect of a more complex endocrine disorder or a non-endocrine disorder, other mutations affecting GNRH and/or gonadotropin secretion have been reported. Often, the CHH phenotype is tightly linked to an isolated deficiency of gonadotropin secretion. These patients, who have no associated signs or hormone deficiencies independent of the deficiency in gonadotropin and sex steroids, have isolated CHH. In some familial cases, they are due to genetic alterations affecting GNRH secretion (mutations in GNRH1, GPR54/KISS1R and TAC3 and TACR3) or the GNRH sensitivity of the gonadotropic cells (GNRHR). A minority of patients with Kallmann's syndrome or a syndromic form of CHH may also appear to have isolated CHH, but close clinical, familial, and genetic studies can reorient the diagnosis, which is important for genetic counseling in the context of assisted reproductive medicine. This review focuses on published cases of isolated CHH, its clinical and endocrine features, genetic causes, and genotype-phenotype relationships.

  20. Retroaortic left innominate vein – Incidence, association with congenital heart defects, embryology, and clinical significance

    OpenAIRE

    2008-01-01

    In a retrospective analysis of echocardiograms, the incidence of retroaortic innominate vein was found to be 0.55% amongst children with congenital heart disease. It was most commonly associated with tetralogy of Fallot and right aortic arch.

  1. Clinical countermeasures against congenital heart disease in adults%成人先天性心脏病临床对策

    Institute of Scientific and Technical Information of China (English)

    徐仲英

    2013-01-01

    Congenital heart disease is common among the newborns, and the incidence rate is about 0. 8%. Over the past 30 years,great progress has been made in the diagnosis and treatment of congenital heart disease in children. As a result,many children with such diseases now survive to adulthood. In the United States alone, the population of adults with congenital heart disease, either surgically corrected or uncorrected, is estimated to be increasing at a rate of about 5 percent every year; in 2008 there had be almost 1 million such patients. Currently in China, although there is no statistical data of incidence of adult congenital heart disease,the number of such patients must be huge. This article discusses congenital heart disease from two aspects: acyanotic and cyanotic;and clinical countermeasures against each type will be described.%先天性心脏病比较常见的,在新生儿中发生率约0.8%.在过去的30年,儿童先天性心脏病诊断和治疗取得了巨大进步,许多孩子因此可以存活到成年.仅在美国,经矫治或未矫治的先天性心脏病成人数,预计将以每年约5%的速度增长,2008已达近100万例患者.中国还没有成人先天性心脏病的统计数据,但患者数目必须是巨大的.文章从紫绀型和紫绀型2个方面阐述常见成人先天性心脏病的临床对策.

  2. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

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    Sarra E Jamieson

    Full Text Available BACKGROUND: Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. METHODS AND FINDINGS: In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting. CONCLUSIONS: These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite.

  3. DISTRIBUTION OF CONGENITAL HEART DISEASES AT TERTIARY CARE CENTER: SINGLE CENTER EXPERIENCE

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    Vaishali

    2016-02-01

    Full Text Available BACKGROUND The current study was undertaken at a tertiary care center, Bhopal, MP, India, with the objective of establishing frequency of occurrence of congenital heart diseases by echocardiography. MATERIALS AND METHOD 10,000 consecutive cases undergoing Echo Color Doppler in the Cardiology Department Hamidia Hospital, Bhopal, between 1st Jan 2009 and July 2011 were analysed. Echo CD was performed by consultant cardiologist using Acuson Aspen Color Doppler machine following the ASE guidelines. RESULTS AND CONCLUSIONS In the present study out of 10,000consecutive cases undergoing echo 648 were identified to having congenital heart diseases. Isolated VSD (30.5%, isolated ASD (23.6% PDA (9% and TOF (8.3% were commonest defect observed. Most common congenital heart disease found in the present study is VSD and is most prevalent in males and is highest among 0-5 yrs.

  4. P2-29: Comparing the Other-Race-Effect and Congenital Prosopagnosia Using a Three-Experiment Test Battery

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    Janina Esins

    2012-10-01

    Full Text Available Congenital prosopagnosia, an innate impairment in recognizing faces, as well as the other-race-effect, the disadvantage in recognizing faces of foreign races, both influence face recognition abilities. Here we compared both phenomena by testing three groups: German congenital prosopagnosics (cPs, unimpaired German, and unimpaired South Korean participants (n = 23 per group, on three tests with Caucasian faces. First we ran the Cambridge Face Memory Test (Duchaine & Nakayama, 2006 Neuropsychologia 44 576–585. Participants had to recognize Caucasian target faces in a 3AFC task. German controls performed better than Koreans (p = .009 who performed better than prosopagnosics (p = .0001. Variation of the individual performances was larger for cPs than for Koreans (p = .028. In the second experiment, participants rated the similarity of Caucasian faces (in-house 3D face-database which differed parametrically in features or second order relations (configuration. We found differences between sensitivities to change type (featural or configural, p = 0 and between groups (p = .005 and an interaction between both factors (p = .019. During the third experiment, participants had to learn exemplars of artificial objects (greebles, natural objects (shells, and faces and recognize them among distractors. The results showed an interaction (p = .005 between stimulus type and participant group: cPs where better for non-face stimuli and worse for face stimuli than the other groups. Our results suggest that congenital prosopagnosia and the other-race-effect affect face perception in different ways. The broad range in performance for the cPs directs the focus of our future research towards looking for different forms of congenital prosopagnosia.

  5. Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease

    NARCIS (Netherlands)

    Zijlstra, Willemijn M H; Douwes, Johannes M; Ploegstra, Mark-Jan; Krishnan, Usha; Roofthooft, Marcel; Hillege, Hans L; Ivy, D Dunbar; Rosenzweig, Erika B; Berger, Rolf M F

    2016-01-01

    Congenital heart disease (CHD) is a frequent cause of pediatric pulmonary arterial hypertension (PAH), with diverse etiology and outcome. We aimed to describe phenotypic heterogeneity in pediatric PAH associated with CHD (PAH-CHD), assess the applicability of the Nice CHD classification, and explore

  6. Absence of clinically relevant growth acceleration in untreated children with non-classical congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Pijnenburg-Kleizen, K.J.; Borm, G.F.; Otten, B.J.; Schott, D.A.; Akker, E.L. van den; Stokvis-Brantsma, W.H.; Voorhoeve, P.G.; Bakker, B.; Claahsen-van der Grinten, H.L.

    2012-01-01

    BACKGROUND/AIMS: In classical congenital adrenal hyperplasia (CAH), elevation of adrenal androgens leads to accelerated growth and bone maturation with compromised adult height. In untreated children with non-classical CAH (NC-CAH), in which adrenal androgens are generally only slightly increased, g

  7. The Clinical and Molecular Relations Between Idiopathic Preterm Labor and Maternal Congenital Heart Defects

    NARCIS (Netherlands)

    de Laat, Monique W. M.; Pieper, Petronella G.; Oudijk, Martijn A.; Mulder, Barbara J. M.; Christoffels, Vincent M.; Afink, Gijs B.; Postma, Alex V.; Ris-Stalpers, Carrie

    2013-01-01

    Preterm labor (PTL) is an important cause of preterm delivery. The trigger initiating the process toward overt labor and parturition is poorly understood and the molecular basis remains an enigma. It recently emerged that the overall occurrence of PTL in pregnant women with congenital heart disease

  8. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

    NARCIS (Netherlands)

    Morava, E.; Wosik, H.; Karteszi, J.; Guillard, M.; Adamowicz, M.; Sykut-Cegielska, J.; Hadzsiev, K.; Wevers, R.A.; Lefeber, D.J.

    2008-01-01

    Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are

  9. [From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].

    Science.gov (United States)

    Dufier, Jean-Louis; Rozet, Jean-Michel; Kaplan, Josseline; Roche, Olivier

    2013-01-01

    Congenital glaucoma, a true hydrocephalus of the eye, is defined by ocular hypertension resulting in buphthalmos in children up to three years old, the elasticity of the eye wall allowing its expansion. Juvenile glaucoma in teenagers and chronic glaucoma in adults do not alter the external aspect of the eye, as the eyeball has lost its elasticity. However, chronic ocular hypertension always causes ischemic excavation of the optic nerve head, leading to insidious amputation of the visual field and, potentially, blindness. Like most ophthalmological disorders, the different types of glaucoma have been shown to be genetically determined, and alterations in several genes have been identified. These altered genes can be expressed more or less early in life, suggesting a role of modifier genes. The role of CYP1B1 alterations in classic primary congenital glaucoma is well known, as is the role of PITX2, FOXC1, PAX6 and LOXC1 alterations in secondary congenital glaucoma due to iridogoniodysgenesis, and of MYOC alterations in the genesis of chronic glaucoma in adulthood. An outbred family carrying CYP1B1 mutations in the compound heterozygous state includes two sibs with primary congenital glaucoma and two others who developed chronic glaucoma in adulthood.

  10. Contemporary prevalence of pulmonary arterial hypertension in adult congenital heart disease following the updated clinical classification

    NARCIS (Netherlands)

    Riel, A.C. van; Schuuring, M.J.; Hessen, I.D. van; Zwinderman, A.H.; Cozijnsen, L.; Reichert, C.L.; Hoorntje, J.C.A.; Wagenaar, L.J.; Post, M.C.; Dijk, A.P.J. van; Hoendermis, E.S.; Mulder, B.J.; Bouma, B.J.

    2014-01-01

    BACKGROUND: The aging congenital heart disease (CHD) population is prone to develop a variety of sequelae, including pulmonary arterial hypertension (PAH). Previous prevalence estimates are limited in applicability due to the use of tertiary centers, or database encoding only. We aimed to investigat

  11. Clinical profile of patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase defiiciency

    Directory of Open Access Journals (Sweden)

    Sheeraz Ahmad Dar

    2016-06-01

    Congenital adrenal hyperplasia is a unique disorder due to very adverse outcomes and even death resulting from enzyme deficiency if left untreated; and associated social taboos There is a need to start neonatal screening for CAH in our country. [Natl J Med Res 2016; 6(2.000: 177-180

  12. Clinical and histological responses of congenital melanocytic nevi after single treatment with Q-switched lasers

    NARCIS (Netherlands)

    Grevelink, JM; vanLeeuwen, RL; Anderson, RR; Byers, HR

    1997-01-01

    Background: Laser irradiation of congenital melanocytic nevi is a controversial treatment. Recurrence of lesions after laser treatment appears to be the rule, and the effects of laser irradiation on cellular biological behavior and the possible mutagenic responses of nevomelanocytes that have receiv

  13. Congenital Hypothyroidism

    Science.gov (United States)

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  14. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  15. 先天性内斜视的临床分析%Clinical analysis of congenital esotropia

    Institute of Scientific and Technical Information of China (English)

    刘垠; 宋天勤; 纪彩霓

    2011-01-01

    Objective To analysis the clinical features of congenital esotropia, timing and methods of surgery, and postoperative binocular vision. Methods Retrospective analysis of 82 cases of congenital esotropia clinical data and treatment outcomes. Results 60 cases (73.17%) received an orthotopic surgery, 21 cases (25.61%) were due to correction, 1 (1.22%) patient due to correction. 17 patients (20.00%) were operatied again after 6 months of first surgery. 39 cases (47.00%) were peripheral integration, 21 cases (25.00%) by Titmus≤400" stereoacuity. Conclusions Congenital esotropia mostly characters with alternating eyes and large degree. It should be early diagnosis and surgery, with postoperative binocular vision training can obtain satisfactory results.%目的 探讨先天性内斜视临床特征,手术时机、方法及术后双眼单视功能.方法 统计82例先天性内斜视病例,对其临床特征及治疗结果进行回顾分析.结果 60例(73.17%)一次手术获得正位,21例(25.61%)术后欠矫,1例(1.22%)术后过矫,17例(20.00%)在一次手术后6个月斜视角>20△行二次手术.术后39例(47.57%)获得周边融合,21例(25.60%)通过Titmus立体图≤400”立体视锐度.结论 先天性内斜视多为双眼交替性,斜度较大,需尽早手术治疗,术后进行双眼单视功能训练,可获得满意效果.

  16. The clinical experiences of dyslexic healthcare students

    Energy Technology Data Exchange (ETDEWEB)

    Murphy, Fred [Directorate of Radiography, School of Health Care Professions, University of Salford, Allerton Building, Salford, Greater Manchester M6 6PU (United Kingdom)], E-mail: f.j.murphy@salford.ac.uk

    2009-11-15

    This paper reflects on the experiences of healthcare students with dyslexia in order to raise awareness of the potential challenges for dyslexic student radiographers and their clinical educators. With widening participation policies it is likely that the number of student radiographers with specific learning difficulties such as dyslexia will continue to increase. A review of the literature associated with dyslexia in healthcare education was performed in order to provide an overview of the current position. Although Higher Education Institutions (HEIs) have embraced the support and learning opportunities for dyslexic students at university, evidence would suggest that this is not reflected in the clinical departments. The current literature strongly suggests that since the risk of errors with clinical information is far more significant within the clinical placement, there is an immediate requirement for greater understanding, robust support and risk assessment systems. This review considers the problems experienced by dyslexic students, coping strategies they employ and the possible implications for clinical radiography education.

  17. Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia.

    Science.gov (United States)

    Zhang, Z-Y; Zhao, X-D; Jiang, L-P; Liu, E-M; Wang, M; Yu, J; Liu, P; Yang, X-Q

    2010-11-01

    Congenital agammaglobulinemia is a humoral primary immunodeficiency and affected patients have extremely low levels of peripheral B cells and profound deficiency of all immunoglobulin isotypes. Mutations of the Bruton's tyrosine kinase (BTK) gene are responsible for most of the congenital agammaglobulinemia. In this study, the phenotypes of congenital agammaglobulinemia were investigated in 21 male children from 21 unrelated Chinese families. Sixteen different mutations of BTK gene were identified in 18 patients, and three patients did not have BTK gene mutations. Nine mutations had been reported previously including one gross deletion (c.722_2041del), one missense mutation (c.1764G>T), three non-sense mutations (c.194C>A, c.895C>T and c.1821G>A) and four invariant splice-site mutations (c.971+2T>C, c.1481+2T>A, c.1482-2A>G, c.1699-2A>G). Seven novel mutations were identified (c.373_441del, c. 504delG, c.537delC, c.851delA, c.1637G>A, c.1879T>C and c. 1482_1882 del). Ten of the eighteen mutations of BTK gene were located in the TK domain, four in the PH domain, three in the SH3 domain and one spanned the TH, SH3, SH2 and TK domain. Candidate genes of autosomal-recessive agammaglobulinemia, including IGHM, CD79a, CD79b and IGLL1, were screened in three patients without mutations in the BTK gene. A compound heterozygosity mutation in the IGHM gene (c.1956G>A, c.175_176insC) was identified in one patient. The results of our study further support that molecular genetic testing represents an important tool for early confirmed diagnosis of congenital agammaglobulinemia and may allow accurate carrier detection and prenatal diagnosis.

  18. PROFILE OF CONGENITAL HEART DISEASE AS DIAGNOSED BY FETAL ECHOCARDIOGRAPHY, A TERTIARY CARE EXPERIENCE

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    Venkata Arunavalli

    2015-09-01

    Full Text Available BACKGROUND : The incidence of congenital heart disease is 0.8 in 1000 live births. Fetal echo cardiography offers a chance to detect most hemodynamically significant congenital heart disease in early pregnancy, so that their management prenatally, at birth and postnatally can be planned better. OBJECTIVES : To analyze the profile of congenital heart disease as diagnosed by fetal echocardiography, in pregnant women referred to a tertiary care centre. MATERIAL AND METHODS : The study design is retrospective, observational study. A total number of 583 fetal echo studies were performed at our C entre from January 1 st 2014 to June 30 th 2015. All studies were performed by a single operator. The main i ndications for the referral were: inability to visualize a clear four chamber view on obstetric scan, echogenic focus in LV cavity, maternal diabetes, family history of congenital heart disease, and maternal request. Statistical analysis was performed usin g statistical package for social sciences SPSS: CHICAGO, 3L VSA program. All the women with abnormal FE studies, except ones with complex CHDS were instructed to bring the new borns for 2D echo within 1 – 2 days after birth. RESULTS : Overall, significant C HD was found in 5.4% of FE studies (32 out of 583 cases . The most common indications for referral were: inability to visualize a clear four chamber view on obstetric scan, echogenic focus in LV cavity, maternal diabetes, family history of congenital heart disease, and maternal request. The risk factors with highest yield of CHD were poly hydroamnios and maternal diabetes. The commonest lesion found was ostium secundum ASD. There was a significant correlation between the presence of echogenic focus prenatal ly and small to moderate sized ostium secundum ASD after birth. CONCLUSION : Our data suggests that the risk factors with highest yield of CHD are polyhydromnios and meternal diabetes. Presence of echogenic focus in the LV in FE is associated

  19. Nursing students’ experiences of clinical education setting

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    Rahnama M

    2015-08-01

    Full Text Available Background and Objective: Appropriate clinical environment has an important role in preparing students to use learned knowledge in practice through providing learning opportunities. Since the students’ experiences in the clinical setting affect on quality of their learning, the current study aimed to explain the experiences of nursing students concerning clinical education setting. Materials and Method: The current study was conducted based on conventional content analysis. Sampling was done purposively and the participants were 13 last year nursing students in Zabol Nursing and Midwifery School in 2013-2014. Data collection was done through in-depth semi-structured interviews. Data analysis was conducted through qualitative content analysis approach. Results: Based on the results, five major categories including threats, vision, dual forces, mindset and students’ action to clinical education and also10 subcategorie were identified. Conclusion: Since the formation of students’ experiences in these environments is one of the predictive factors in achieving their learning and in facilitating the professionalization process, thus the attention of managers in clinical settings is very important for decreasing the threats and concerns for students. In this way, the marred prospects of profession can be recovered through the meeting students’ expectations, attractiveness of the profession can be increased and the positive belief, actions and feelings can be created in students.

  20. Implantable cardioverter defibrillator therapy in pediatric and congenital heart disease patients: a single tertiary center experience in Korea

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    Bo Kyung Jin

    2013-03-01

    Full Text Available Purpose: The use of implantable cardioverter defibrillators (ICDs to prevent sudden cardiac death is increasing in children and adolescents. This study investigated the use of ICDs in children with congenital heart disease. Methods: This retrospective study was conducted on the clinical characteristics and effectiveness of ICD implantation at the department of pediatrics of a single tertiary center between 2007 and 2011. Results: Fifteen patients underwent ICD implantation. Their mean age at the time of implantation was 14.5±5.4 years (range, 2 to 22 years. The follow-up duration was 28.9±20.4 months. The cause of ICD implantation was cardiac arrest in 7, sustained ventricular tachycardia in 6, and syncope in 2 patients. The underlying disorders were as follows: ionic channelopathy in 6 patients (long QT type 3 in 4, catecholaminergic polymorphic ventricular tachycardia [CPVT] in 1, and J wave syndrome in 1, cardiomyopathy in 5 patients, and postoperative congenital heart disease in 4 patients. ICD coils were implanted in the pericardial space in 2 children (ages 2 and 6 years. Five patients received appropriate ICD shock therapy, and 2 patients received inappropriate shocks due to supraventricular tachycardia.During follow-up, 2 patients required lead dysfunction-related revision. One patient with CPVT suffered from an ICD storm that was resolved using sympathetic denervation surgery. Conclusion: The overall ICD outcome was acceptable in most pediatric patients. Early diagnosis and timely ICD implantation are recommended for preventing sudden death in high-risk children and patients with congenital heart disease.

  1. Congenital syphilis

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    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  2. Congenital Ocular Motor Apraxia

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    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  3. Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis

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    Elsamkary MA

    2016-03-01

    Full Text Available Mahmoud Ahmed Elsamkary,1 Maged Maher Salib Roshdy1,2 1Ophthalmology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt; 2Pediatric Ophthalmology Department, Al Watany Eye Hospital, Cairo, Egypt Purpose: To study the effect of autogenous fascia lata sling (AFLS versus Gore-Tex suspension (GTS regarding the functional and aesthetic outcomes in patients with bilateral congenital ptosis. Patients and methods: A prospective comparative randomized single-center study enrolled 110 patients with bilateral congenital ptosis. One group (n=55 underwent AFLS and the second group (n=55 underwent GTS. Exclusion criteria were good levator function, absent Bell’s phenomenon, and abnormal ocular motility. Follow-up period was 2 years. Functional outcome was measured from digital photos by analysis of upper eyelid margin position relative to the superior limbus and classified as very good (<3 mm, good (3–5 mm, poor (>5 mm, and recurrent. Aesthetic outcome was assessed in terms of lid contour, symmetry of eyelid height, and lid crease presence. Complications were also reported. Results: Failure rate (recurrence and complications was less in AFLS (P=0.035. Symmetrical lid height and good contour were more frequently attained by AFLS (P=0.007 and 0.047, respectively. However, the frequency of very good, good, poor, recurrence, lagopthalmos, ectropion, infection, and formed lid crease individually showed no statistically significant difference (P=0.252, 0.482, 1, 0.489, 0.438, 1, 0.618, and 0.506, respectively. Conclusion: AFLS is a better choice in surgery for patients with bilateral congenital ptosis because it has fewer complications and a lesser recurrence rate than GTS. Keywords: ptosis surgery, surgical outcomes, ptosis recurrence, lagophthalmos

  4. Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment.

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    Cooper, Monica S; Randall, Melinda; Rowell, Margaret; Charlton, Margaret; Greenway, Anthea; Barnes, Chris

    2016-03-01

    We report a case of prophylactic management with methylene blue (MB) in an almost 4-year-old male with congenital methemoglobinemia type II. He has a CYB5R3 compound heterozygote mutation, causing a cytochrome-b(5) reductase deficiency. Since the MB treatment regimen has commenced, his methemoglobin level has been significantly lower. He has shown modest behavioral improvements (as assessed on the Achenbach behavior report scales). There have been no iatrogenic side effects. These findings are encouraging for symptomatic improvement with regular prophylactic MB treatment but represent a single case report, which must be interpreted with caution.

  5. Left-to-Right Shunt with Congenital Heart Disease: Single Center Experience

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    Cevik, Ayhan; Olgunturk, Rana; Kula, Serdar; Saylan, Berna; Pektas, Ayhan; Oguz, Deniz; Tunaoglu, Sedef

    2013-01-01

    Objective. The objective of this study was to determine the frequency of pulmonary arterial hypertension (PAH) in congenital heart disease (CHD) with an isolated, large left-to-right shunt and to indicate the factors in the development of PAH. Methods. The pressure measurements in the cardiac chambers and the calculations based on the Fick's principle were compared among 3 separate groups of patients, respectively, with PAH, with hyperkinetic pulmonary hypertension (HPH), and with neither PAH nor HPH. Results. PAH was diagnosed in 30 (12.3%) patients, HPH in 35 (14.4%), while 177 (73.1%) were free of either. The highest risk for the development of PAH was found in the presence of perimembranous ventricular septal defect. A statistically significant difference was seen among these groups as to their left atrial pressure (p = 0.005) and the mean pulmonary arterial pressure (PAPmean; p < 0.001). While a correlation was present between RpI on one hand and age on the other (p = 0.014), a multiple linear regression could not evidence any correlation among age (p = 0.321), gender (p = 0.929). Conclusion. Our findings do not allow establishing a correlation between the duration of the high pulmonary flow and pulmonary vascular resistance increase or PAH development in isolated left-to-right shunts with congenital heart diseases. PMID:23862073

  6. Challenges in the management of congenital heart disease in Vietnam: A single center experience

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    Vu Minh Phuc

    2015-01-01

    Full Text Available Vietnam, in Asia, is a low middle-income country with a relatively large population to cater to. Not many know about Vietnam, or its healthcare sector especially the field of pediatric cardiology and congenital heart disease. In contrast to the developed world, congenital heart disease (CHD is not diagnosed early. Since most of the patients visit the hospital only in later stages of the disease there are many complications during the operation and post-operatively. But during the past 5 years (from 2009, there has been major improvement in the treatment of CHD, both by intervention and surgery. At present, all kinds of CHD, both simple and complex are being successfully treated in our country. Today in Vietnam, all children under 6 years of age have health insurance coverage, under which almost all operations and catheter interventions are done free in government hospitals. It is helping many patients, especially those from the poor socioeconomic background. However, the present infrastructure is inadequate and a long waiting list has accumulated for treatment of CHD.

  7. Management of Congenital Talipes Equino Varus (CTEV by Ponseti Casting Technique in Neonates: Our Experience

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    Kazi Md Noor-ul Ferdous

    2013-04-01

    Full Text Available Objective: The purpose of this study is to evaluate the results of Ponseti technique in the management of congenital Talipes Equino Varus (CTEV in neonatal age group. Methods: It is a prospective observational study, conducted during the period of July 2010 to December 2011 at the Department of Pediatric Surgery in a tertiary hospital. All the neonates with CTEV were treated with Ponseti casting technique. Neonates with other congenital deformities, arthrogryposis and myelomeningocele were excluded.Results: Total 58 CTEV feet of 38 neonates were treated. Twenty six were males and 12 were females. Thirty seven (63.8% feet were of rigid variety and 21(36.2 % feet were of non-rigid variety. Twenty patients had bilateral and 18 had unilateral involvement. Mean pre-treatment Pirani score of study group was 5.57. Mean number of plaster casts required per CTEV was 3.75 (range: 2-6. Thirty five rigid and 15 non-rigid (total 86.2% feet required percutaneous tenotomy. Out of 58 feet 56 (96.6% were managed successfully. Three (5.2% patients developed complications like skin excoriation and blister formation. Mean post-treatment Pirani score of the study group was: 0.36 ± 0.43. Conclusion: The Ponseti technique is an excellent, simple, effective, minimally invasive, and inexpensive procedure for the treatment CTEV deformity. Ideally it can be performed as a day case procedure without general anesthesia even in neonatal period.

  8. Management of Congenital Talipes Equino Varus (CTEV by Ponseti Casting Technique in Neonates: Our Experience

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    Md. Saif Ullah

    2013-03-01

    Full Text Available Objective: The purpose of this study is to evaluate the results of Ponseti technique in the management of congenital Talipes Equino Varus (CTEV in neonatal age group.Methods: It is a prospective observational study, conducted during the period of July 2010 to December 2011 at the Department of Pediatric Surgery in a tertiary hospital. All the neonates with CTEV were treated with Ponseti casting technique. Neonates with other congenital deformities, arthrogryposis and myelomeningocele were excluded.Results: Total 58 CTEV feet of 38 neonates were treated. Twenty six were males and 12 were females. Thirty seven (63.8% feet were of rigid variety and 21(36.2 % feet were of non-rigid variety. Twenty patients had bilateral and 18 had unilateral involvement. Mean pre-treatment Pirani score of study group was 5.57. Mean number of plaster casts required per CTEV was 3.75 (range: 2-6. Thirty five rigid and 15 non-rigid (total 86.2% feet required percutaneous tenotomy. Out of 58 feet 56 (96.6% were managed successfully. Three (5.2% patients developed complications like skin excoriation and blister formation. Mean post-treatment Pirani score of the study group was: 0.36 ± 0.43.Conclusion: The Ponseti technique is an excellent, simple, effective, minimally invasive, and inexpensive procedure for the treatment CTEV deformity. Ideally it can be performed as a day case procedure without general anesthesia even in neonatal period.

  9. Vibrotactile masking experiments reveal accelerated somatosensory processing in congenitally blind braille readers.

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    Bhattacharjee, Arindam; Ye, Amanda J; Lisak, Joy A; Vargas, Maria G; Goldreich, Daniel

    2010-10-27

    Braille reading is a demanding task that requires the identification of rapidly varying tactile patterns. During proficient reading, neighboring characters impact the fingertip at ∼100 ms intervals, and adjacent raised dots within a character at 50 ms intervals. Because the brain requires time to interpret afferent sensorineural activity, among other reasons, tactile stimuli separated by such short temporal intervals pose a challenge to perception. How, then, do proficient Braille readers successfully interpret inputs arising from their fingertips at such rapid rates? We hypothesized that somatosensory perceptual consolidation occurs more rapidly in proficient Braille readers. If so, Braille readers should outperform sighted participants on masking tasks, which demand rapid perceptual processing, but would not necessarily outperform the sighted on tests of simple vibrotactile sensitivity. To investigate, we conducted two-interval forced-choice vibrotactile detection, amplitude discrimination, and masking tasks on the index fingertips of 89 sighted and 57 profoundly blind humans. Sighted and blind participants had similar unmasked detection (25 ms target tap) and amplitude discrimination (compared with 100 μm reference tap) thresholds, but congenitally blind Braille readers, the fastest readers among the blind participants, exhibited significantly less masking than the sighted (masker, 50 Hz, 50 μm; target-masker delays, ±50 and ±100 ms). Indeed, Braille reading speed correlated significantly and specifically with masking task performance, and in particular with the backward masking decay time constant. We conclude that vibrotactile sensitivity is unchanged but that perceptual processing is accelerated in congenitally blind Braille readers.

  10. Leber先天黑矇的临床研究%Clinical study on Leber congenital amaurosis

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    睢瑞芳; 赵潺; 姜茹欣; 周崎; 于伟泓; 董方田

    2009-01-01

    Objectives To observe the clinical characteristics of Leber congenital amaurosis (LCA)and analyze the features to differentiate LCA from other similar disorders.Methods Prospective study of 15LCA patients which include 10 males and 5 females,aged from 2 to 31 years with the mean age 13.6 years.Medical history,family history,perinatal conditions,as well as complete ocular evaluations were well documented.Among the subjects,12 patients underwent optometry check,10 patients underwent ERG and 8 patients had OCT testing.Results All of the patients had nystagmus and sluggish pupillary reflex.The visual acuity distributed from light perception to 0.1.Fivepatients (33.3%) were presented with photophobia,while 7 patients (46.7%) had nyctalopia.Among 12 cases underwent refraction examination,6 patients (50% ) had spherical equivalent of≥ + 5D;1 patient(8.3 % )had spherical equivalent of≥+5D;2patients (16.7%) had bilateral mild to moderate hyperopia;1 patient (8.3%) had one emmertropic eye and one mild myopic eye;2 patients (16.7%) had moderate to high myopia.Eight patients (53.3%) had enophthalmus,4 patients (26.7%) had oculo-digital sign.All of the 10 patients underwent ERG showed extinguished waveform.Under OCT assesement,7 patients had decreased fovea thickness;1 patient had increased fovea thickness,complicated by epiretinal membrane;mild abnormality of microstrueture of the retina with diminished and disrupted IS/OS hyperreflectivity were found in 2 cases;while more pronounced disarrangement of the retinal layers were found in 6 cases,inner layers were better reserved in all patients.Conclusions Severe visual impairment or blindness,nystagmus,pupillary reflex,extinguished ERG and hyperopia are main clinical characteristics of LCA.%目的 观察中国Leber先天黑嚎(LCA)患者的临床特征.方法 前瞻性临床研究,分析15例LCA患者的临床资料.其中,男性10例,女性5例,年龄2~31岁,平均13.6岁.所有患者就诊时详细记录病史、家族

  11. First year clinical tutorials: students’ learning experience

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    Burgess A

    2014-11-01

    Full Text Available Annette Burgess,1 Kim Oates,2 Kerry Goulston,2 Craig Mellis1 1Central Clinical School, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia; 2Sydney Medical School, The University of Sydney, Sydney, NSW, Australia Background: Bedside teaching lies at the heart of medical education. The learning environment afforded to students during clinical tutorials contributes substantially to their knowledge, thinking, and learning. Situated cognition theory posits that the depth and breadth of the students' learning experience is dependent upon the attitude of the clinical teacher, the structure of the tutorial, and the understanding of tutorial and learning objectives. This theory provides a useful framework to conceptualize how students' experience within their clinical tutorials impacts their knowledge, thinking, and learning. Methods: The study was conducted with one cohort (n=301 of students who had completed year 1 of the medical program at Sydney Medical School in 2013. All students were asked to complete a three-part questionnaire regarding their perceptions of their clinical tutor's attributes, the consistency of the tutor, and the best features of the tutorials and need for improvement. Both quantitative and qualitative data were collected and analyzed using descriptive statistics. Results: The response rate to the questionnaire was 88% (265/301. Students perceived that their tutors displayed good communication skills and enthusiasm, encouraged their learning, and were empathetic toward patients. Fifty-two percent of students reported having the same communications tutor for the entire year, and 28% reported having the same physical examination tutor for the entire year. Students would like increased patient contact, greater structure within their tutorials, and greater alignment of teaching with the curriculum. Conclusion: Situated cognition theory provides a valuable lens to view students' experience of learning within the

  12. Congenital Microtia Treated at Sapporo Medical University Hospital: Clinical Characteristics and Associated Anomalies.

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    Ogasawara, Noriko; Jitsukawa, Sumito; Takahashi, Nozomi; Takano, Kenichi; Himi, Tetsuo

    2016-01-01

    Seventy-three children who underwent plastic surgery for their external ear malformations between December 2010 and May 2013 at the Sapporo Medical University Hospital were evaluated. The predominance of right-sided malformation (62%) in males (71%) was similar to that reported previously, but the number of bilateral cases (9.3%) was lower than that in previous reports. We classified patients' ears using Marx's classification. The pure-tone average (average air conduction thresholds measured at 500, 1,000 and 2,000 Hz) was used as the representative value for the hearing level, which was compared with a patient's Marx classification. We evaluated the facial nerve position using high-resolution computed tomography scans. A thorough understanding of anatomical variations and complications, as well as performing appropriate treatments, is required for otolaryngologists to effectively manage congenital microtia.

  13. Giant congenital melanocytic nevus of the face. A clinical case report

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    Маргарита Сергеевна Цыплакова

    2015-06-01

    Full Text Available This article describes a rare case of congenital anomalies: giant melanocytic nevus of the face. Errors in the choice of treatment strategy of children with this disease and their complications can lead to poor aesthetic and functional results. When choosing a method of plastic eliminate defects formed after removal of nevi, it is necessary to take into account anatomical features of the maxillofacial region. The department developed the scheme of complex treatment of these patients. Surgical treatment in combination with massage and myogymnastics, regular medical observation, provides a good aesthetic results. Integrated approach in the treatment of children with giant nevi of the face allows for an early medico-social rehabilitation of children with this pathology.

  14. [Congenital toxoplasmosis: clinical manifestation, treatment and follow-up] [Article in Italian] • Il neonato con toxoplasmosi congenita: clinica, terapia e follow-up

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    Lina Bollani

    2014-01-01

    Full Text Available Toxoplamosis is a parasitic zoonosis which occurs worldwide, but is prevalent in Europe, South America and Africa. When infection occurs for the first time during pregnancy, mother to child transmission of the parasite can cause congenital toxoplasmosis. Rate of congenital infection ranges from less than 0.1 to approximately 1 per 1,000 live births. The risk of transmission depends on the gestational age at the time of maternal infection. A diagnosis of congenital toxoplasmosis is usually considered in infants who present: hydrocephalus, chorioretinitis, and intracranial calcifications, but this triade is very rare. Approximately 85% of the infants with congenital toxoplasmosis are clinically normal at birth; however, sequelae of infection may become apparent only months or even years later. Chorioretinitis is the main complication of congenital toxoplasmosis, late onset retinal lesions and relapse can appear many years after birth, but the overall ocular prognosis is satisfactory when infection is identified and treated accordingly. Fortunately, serious neonatal forms and severe neurological impairment have become rare, but prompt treatment of children with convulsions, abnormal muscle tone, hydrocephalus, may improve the prognosis and result in almost normal outcome. For infants who have congenital toxoplasmosis, treatment soon after birth for 1 year with pyrimetamine, sulfadiazine and leukoverin led to remarkable resolution of serious, active disease. A long follow-up is necessary to assess the long-term outcome of children and young adults with congenital toxoplasmosis, that is favourable for the majority of cases. Epidemiological surveillance needs to be improved in order to determine the effectiveness of prevention programs.Articoli Selezionati del “3° Convegno Pediatrico del Medio Campidano” · Guspini · 25 Maggio 2013Guest Editor: Roberto Antonucci

  15. Congenital Pseudoarthrosis of Medial Malleolus in A Young Soccer Player – Diagnosis in Clinical setting of Ankle Sprain

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    Giuliano Cerulli

    2014-01-01

    Full Text Available Introduction: We report a case of a young female soccer player affected by congenital medial bilateral malleolus pseudoarthrosis and os subfibulare. Congenital pseudoarthrosis is the failure of the bones to fuse prior or at birth. The etiology is still unknown, although frequency is high in subjects affected by neurofibromatosis or correlated syndromes, so it has been suggested that these congenital disorders may be the cause of congenital pseudoarthrosis. Case Report: Our patient, a 16-year-old female, high level soccer player, was referred to us following a right ankle sprain during a match. She reported no medical history of tibia-tarsus joint injuries or disease. Pain, swelling and functional impairment were noted immediately after the accident. Standard radiographs in the emergency department revealed a displaced fracture of the medial malleolus and the presence of os subfibularis. The patient was transferred to our Traumatology and Orthopaedic Department to undergo malleolus ostheosynthesis. Before surgery swelling, functional impairment and intense pain at the medial malleolus level were confirmed. However, there was no radiological opening of ankle, instability or pronation pain; furthermore the flexion-extension was preserved with slight pain. Twenty-four hours later a considerable remission of symptoms was evident with increased range of motion and reduction in the swelling and post-traumatic edema. A radiograph on the left ankle to compare with that of the right ankle was necessary to overcome the discrepancy between the radiological diagnosis and the clinical examination. The radiographic results of both medial malleoli were comparable although on the left the os subfibularis was absent. Since the diagnosis of fracture by the association between the radiographs and the symptomatology was doubtful, a bilateral CT was performed. The scan revealed a medial bilateral malleolus pseudoarthrosis and an accessory right subfibularis nucleus

  16. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  17. 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

  18. Comparison of Two Methods for Upper Lid Fascia Lata Sling in Congenital Blepharoptosis: a Randomized Clinical Trial

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    Abbas Bagheri

    2008-12-01

    Full Text Available

    PURPOSE: To compare the results of two different methods of upper lid sling with autogenous fascia lata in the treatment of congenital ptosis. METHODS: In a randomized clinical trial, patients with congenital upper lid ptosis and poor levator function (< 4mm were randomly assigned to two different methods of upper lid sling: group A, bitriangular fascia sling (modified Crawford method and group B, monotriangular fascia sling (modified Fox method. RESULTS:  This study included 30 upper eyelids (15 eyelids in each surgical group of 19 patients (8 unilateral and 11 bilateral cases with congenital ptosis. Mean increase in eyelid fissure height was 2.7±2.3 mm in group A and 3.4±2.2 mm in group B, respectively. Change in eyelid fissure in both groups was significant (P < 0.001, paired t-test but intergroup difference was not (P=0.4, independent sample t-test. Early complications such as corneal epithelial defects and entropion, and late complications such as undercorrection were comparable in the two groups. No patient experienced recurrent ptosis requiring reoperation in either group. CONCLUSION:  The monotriangular method of upper lid fascia sling can be used instead of the more popular bitriangular method. Advantages include less need for fascial tissue, less periocular scar formation and a shorter period of anesthesia.

  19. Experience with intravenous digital subtraction angiography following shunting in 4 cases of congenital heart diseases

    Energy Technology Data Exchange (ETDEWEB)

    Higashidate, Masafumi; Konno, Susumu; Sumitomo, Naokata; Ito, Sango; Kobayashi, Hiroshi

    1985-01-01

    Intravenous digital subtraction angiography (IV-DSA) was performed in two patients with Fallot's tetralogy who underwent Blalock-Taussing operation, a patient with coarctation of the aortic arch who underwent extra-anastomic bypass between the ascending aorta and the descending aorta, and a patient with stenosis of the tricuspid valve who underwent Fontan type operation (anastomosis between the right atrium and the pulmonary artery). The conventional cardiac angiography was also performed for the comparison with IV-DSA in all patients. IV-DSA revealed the thickness of the subclavian artery anastomosed by Blaloch-Taussing operation, but failed to determine the accurate thickness of the pulmonary artery required for PA-index for radical surgery in cases of Fallot's tetralogy. Bypass from the ascending aorta to the descending aorta was well visualized by IV-DSA because the heart did not overlap on the image. In cases of Fontan type operation, IV-DSA permitted the visualization of blood flow from the right atrium to the pulmonary artery and the shape of the pulmonary artery. It is concluded that IV-DSA is a less invasive, simple technique to evaluate patients' condition following shunting for congenital heart diseases, as compared to the conventional method. (Namekawa, K.).

  20. Early experience of robotic surgery for type I congenital dilatation of the bile duct.

    Science.gov (United States)

    Naitoh, Takeshi; Morikawa, Takanori; Tanaka, Naoki; Aoki, Takeshi; Ohtsuka, Hideo; Okada, Takaho; Sakata, Naoaki; Ohnuma, Shinobu; Nakagawa, Kei; Hayashi, Hiroki; Musha, Hiroaki; Yoshida, Hiroshi; Motoi, Fuyuhiko; Katayose, Yu; Unno, Michiaki

    2015-06-01

    Laparoscopic surgery for this disease is not widely spread due to difficulties in its procedure. We started a laparoscopic procedure for this disease since 2011, and the robotic surgery since 2012. The aim of this study is to assess early results of these procedures. We have operated seven cases from September 2011 through December 2013. First two cases were performed by laparoscopic procedure, and following cases were done by robotically assisted surgery. Of these cases, the perioperative outcome and short-term postoperative morbidity were evaluated. Their average age was 43.6 years old (20-64 years old), and male-female ratio was 2:5. Todani classification was type 1 in all cases. The operation time was 321 min in laparoscopic cases, while 489 min in robotic surgery cases. One case of robotic surgery developed postoperative intestinal obstruction of the biliary limb, requiring laparoscopic adhesiolysis. Pancreatic fistula and anastomotic leakage have not been observed. The robotic surgery for the congenital dilatation of the bile duct is feasible and is a theoretically useful option, especially for hepatico-jejunostomy. On the other hand, the limitation of energy devices, high running cost, and time consumption remain questionable.

  1. [Rationale for using nabumetone and clinical experience].

    Science.gov (United States)

    Roth, S H

    2000-01-01

    Nabumetone's position as one of the most commonly used nonsteroidal anti-inflammatory drugs (NSAIDs) in the world today is based upon over a decade of clinical experience. The popularity of this drug lies in both its unique pharmacokinetic profile and special safety features in pharmacodynamic terms. This nonacidic prodrug with an active 6-methoxy-2-naphthylacetic acid (6-MNA) metabolite has COX-2 preferential features and is also devoid of enterohepatic recirculation. It is felt that these characteristics have provided the basis for its unique long term tolerability, documented in various at-risk osteoarthritis and rheumatoid arthritis populations. The excellent tolerability of nabumetone and its 24-hour half-life, which provides the advantages of a once-daily dosage regimen, make it uniquely suitable for long term anti-inflammatory therapy in arthritis. The tolerability profile of nabumetone has also demonstrated clear cost-effectiveness advantages, as confirmed by comparative and epidemiological studies. Selective COX-2 NSAIDs are likely to prove more expensive because of the increasing costs and demands of clinical research prior to FDA approval. These higher costs may limit and influence patient access, depending on the healthcare delivery system, and many years of experience will be required to document the putative tolerability advantages of these newer COX-2 inhibitor agents. In the meantime, it is comforting that nabumetone has established such an advantageous tolerability profile together with acknowledged efficacy.

  2. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  3. Undergraduate clinical orthodontic experience: a discussion paper.

    Science.gov (United States)

    Oliver, R; Hingston, E

    2006-08-01

    Undergraduate clinical orthodontic experience may be expressed in a variety of ways. The most common way (used, inter alia, in the DentEd school visits) is by number of curriculum hours. Other ways include the number of patients seen, or number of procedures carried out. Whilst any of these methods may allow comparison between cohorts of students within a school or between schools, none of them are suitable to determine how much experience is 'satisfactory', nor do they indicate what the student should know, understand, or be able to do, to be considered 'satisfactory', and hence fit to graduate. This situation may be addressed by the use of competences and/or learning outcomes, and in 2004 the Association for Dental Education in Europe (ADEE) adopted a document that contained one major competence and five supporting competences in orthodontics. This paper considers the shortcomings of conventional methods of recording orthodontic experience in relation to the acquisition of these competences, and some ways in which staff and students may assess competence.

  4. Effect of Horizontal Rectus Surgery on Clinical and Paraclinical Indices in Congenital Nystagmus

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2008-11-01

    Full Text Available

    PURPOSE: To determine the effect of horizontal rectus muscle surgery on visual acuity, head posture and electronystagmographic indices in patients with congenital nystagmus. METHODS: This prospective comparative case series was conducted on 58 patients with congenital nystagmus over a period of three years. Patients were divided into three groups: the first group (29 cases had head posture less than 20D, binocular visual acuity (BOVA less than 20/30 and tropia less than 30D and underwent large recession of all four horizontal rectus muscles; the second group (23 cases had head posture less than 20D, BOVA < 20/30 and tropia more than 30D who underwent large recession of two horizontal rectus muscles; and the third group (6 cases had head posture more than 20D with any BOVA or tropia who underwent Kestenbaum-Anderson surgery. RESULTS: Mean age of the patients was 18.7±9.1 years and mean follow-up period was 17.5±7.4 months. Visual acuity improved in all three study groups and was statistically significant in the 2-rectus group (P < 0.001. The speed and amplitude of nystagmus waves decreased in all groups which was statistically significant in the 4-rectus group (P values, 0.02 and 0.04, respectively. A small myopic shift was seen in the 2-rectus and 4-rectus groups and a small hyperopic shift was found in the Kestenbaum

  5. The Effect of Clinical, Radiographic and Functional Scores on the Total Score in the Evaluation of Congenital Clubfoot

    Science.gov (United States)

    Rakonjac, Zoran; Brdar, Radivoj; Popovic, Miroslav

    2014-01-01

    Introduction: The use of radical surgical treatments in treating congenital clubfoot is decreasing. Minimally invasive surgical treatment (MIST) is a way of treating congenital clubfoot, which is a kind of compromise between a radical surgical treatment and non-operational one. A few protocols of different authors McKay, Macnicol, Stevens, Meyer, G.W.Simons and Laaveg-Ponseti were used in the evaluation of the results. SCIENTIFIC OBJECTIVE: To determine the importance and role of groups of parameters (clinical, radiographic and functional) in the evaluation of the results in patients treated with the two methods (radical operation and MIST). Subjects and methods: This paper covers children who were treated for structural (idiopathic) form of PEVC. The testing is a prospective study and was conducted in two groups of patients. Group A (radical surgical treatment) – control group, where the total number of subjects was 50, out of which 35 male (70%) and 15 female (30%). The number of feet tested was 88. Group B (minimally invasive surgical treatment–MIST)–experimental group. The total number of subjects was 48, out of which 35 male (73%) and 13 female (27%). The number of feet tested was 84. For the analysis of the results, we used a questionnaire. The total number of parameters was fifteen, clinical, radiographic and functional, five parameters of each. Normal findings or measured value was determined by 0 points. The range of the total score (TS-a- total score range) 0-27 points, and the results were sorted out into the folowing categories: good result (0-5) satisfactory (6-11), poor (12-19) and deformity recrudescence (20-27) points. Results: The proportion of good results at 88 feet in group A was 0,477 as at 84 feet in group B it was significantly higher and came to 0,893. The difference between these proportions is statistically highly significant (t = 5.84, p <0.001). Chi-square test (χ2 = 30.083 df = 1 N = 172, p <0.001) indicated that there is a

  6. Incidence and distribution of congenital malformations clinically detected at birth: a prospective study at tertiary care hospital

    Directory of Open Access Journals (Sweden)

    Mohammad K. Gandhi

    2016-04-01

    Conclusions: From present study we conclude that incidence of congenital anomalies of CNS was highest amongst all types of congenital anomalies (meningomyelocele being the commonest. More emphasis should be given on prevention by regular antenatal care and avoidance of known teratogens and probable teratogenic agents. [Int J Res Med Sci 2016; 4(4.000: 1136-1139

  7. Congenital and perinatal complications of chikungunya fever: a Latin American experience

    Directory of Open Access Journals (Sweden)

    Jaime R. Torres

    2016-10-01

    Conclusions: This study presents the largest number of symptomatic neonates with CHIKF analyzed so far in any region and is the first involving infection with the Asian genotype of CHIKV. Although the clinical manifestations found were similar to those reported previously, the percentage of neurological complications was lower. The CFR was comparatively high. Chikungunya represented a substantial risk for neonates born to symptomatic parturients during the chikungunya outbreak in the Americas Region, with important clinical and public health implications.

  8. Clinical Experience in TCM Treatment of Insomnia

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    @@ Insomnia is a sleeping disorder that affects 1 in 10 Americans and around 50% of the seniors. It is often more prevalent in women. Since September 11, 2005 these estimations have increased. Insomnia can affect not only your energy level and mood, but your health as well because sleep helps bolster your immune system. Insomnia is characterized by: 1) difficulty in falling asleep; 2) waking up frequently during the night with difficulty of returning to sleep; 3) waking up too early in the morning; and 4) with unrefreshing sleep, the patient has a low spirit, palpation, poor memory, viscera function disorder. All these seriously affect the patient's life and work. The following is an account of the authors' clinical TCM experience in treating insomnia.

  9. Congenital anomalies: 15 years of experience in a level III hospital

    Directory of Open Access Journals (Sweden)

    Carolina Félix

    2017-01-01

    Full Text Available Background: Congenital anomalies (CAs are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life.Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN diagnosis with those detected through postnatal (postN diagnosis.Methods: All records were collected from the Registo Nacional de Anomalias Congénitas (RENAC online platform between 1st January 2000 to 31st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222. We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis.Results: We observed a total of 1,510 anomalies, being 493 (40.3% circulatory, 252 (20.6% chromosomal, 187 (15.3% musculoskeletal, 138 (11.3% digestive, 133 (10.9% urinary, 117 (9.6% nervous, 37 (3.0% respiratory, 35 (2.9% genital, 25 (2% anomalies of the eye, ear, face and neck, 20 (1.6% cleft lip/cleft palate and 73 (6.0% others. Time of diagnosis was known for all subjects: 770 (63.0% were diagnosed prenatally and 452 (37.0% were diagnosed at birth or during the first month of life. We found statistically significant differences between groups for several variables. Assisted reproduction techniques (p = 0.023, maternal medications during the first trimester of pregnancy (p = 0.004 and the number of anomalies per individual (p ≤ 0.001 had a statistically significant impact on receiving preN diagnosis.Conclusion: Our data confirm the importance of both RENAC national database and preN diagnosis in improving perinatal healthcare. However, in order to determine the national prevalence of CAs and understand any involved factors, it is desirable to enhance the notification in the whole country, facilitating the adjustment of national

  10. Liposomal amphotericin B: clinical experience and perspectives.

    Science.gov (United States)

    Gibbs, Winter J; Drew, Richard H; Perfect, John R

    2005-04-01

    While amphotericin B deoxycholate (Fungizone, Apothecon Pharmaceuticals) has been considered by many to be the gold standard for the treatment for numerous invasive fungal infections for over 45 years, toxicities associated with its use often necessitate treatment modification or discontinuation. Lipid-based formulations, including liposomal amphotericin B (AmBisome, Fujisawa Healthcare, Inc.), were developed to decrease many of these toxicities while retaining broad antifungal spectrum and potency of amphotericin B. In clinical trials, liposomal amphotericin B has demonstrated efficacy comparable to that of amphotericin B deoxycholate while reducing the incidence of treatment-related nephrotoxicity, electrolyte-wasting, and infusion-related reactions. In addition, recent clinical trials have also compared liposomal amphotericin B with other antifungal classes. Acquisition costs of liposomal amphotericin B are substantially higher than those of amphotericin B deoxycholate and other antifungals. While pharmacoeconomic analyses consider outcomes and other treatment-related costs, they have yet to clearly demonstrate the cost-effectiveness of liposomal amphotericin B when compared with amphotericin B deoxycholate or other antifungal agents. This review will focus primarily on recent liposomal amphotericin B experience and attempt to put its use into perspective considering other available antifungal agents.

  11. Preliminar y clinical experience in liver retransplantation

    Institute of Scientific and Technical Information of China (English)

    Ji-Qi Yan; Cheng-Hong Peng; Hong-Wei Li; Bai-Yong Shen; Guang-Wen Zhou; Wei-Ping Yang; Hao Chen; Yong-Jun Chen; Chuan Shen

    2007-01-01

    BACKGROUND:The past several decades have witnessed increasingly successful rates of liver transplantation. However, retransplantation remains the only choice for patients with irreversible graft failure after primary transplantation. This article aimed to summarize our clinical experience in liver retransplantation. METHODS:From June 2002 to December 2005, a total of 185 cases of liver transplantation including 8 cases of retransplantation were performed in our hospital. The clinical data were analyzed retrospectively. RESULTS:The rate of liver retransplantation was 4.32%. Retransplantation was indicated for the following reasons:biliary complication (3 cases), chronic rejection (2), hepatic artery thrombosis (1), uncontrollable acute rejection (1) and hepatitis B recurrence (1). The mean model of end-stage liver disease (MELD) scores before primary transplantation and retransplantation were 15.6 and 23.9, respectively (P CONCLUSIONS:Liver retransplantation is the only means of saving the patient with hepatic allograft failure. Understanding of the indications for retransplantation, careful selection of operation timing, excellent surgical skills and meticulous postoperative management all contribute to the success of each case of retransplantation.

  12. Clinical experience with the Sarns centrifugal pump.

    Science.gov (United States)

    Curtis, J J; Walls, J T; Demmy, T L; Boley, T M; Schmaltz, R A; Goss, C F; Wagner-Mann, C C

    1993-07-01

    Since October 1986, we have had experience with 96 Sarns centrifugal pumps in 72 patients (pts). Heparinless left atrial to femoral artery or aorta bypass was used in 14 pts undergoing surgery on the thoracic aorta with 13 survivors (93%). No paraplegia or device-related complications were observed. In 57 patients, the Sarns centrifugal pump was used as a univentricular (27 pts) or biventricular (30 pts) cardiac assist device for postcardiotomy cardiogenic shock. In these patients, cardiac assist duration ranged from 2 to 434 h with a hospital survival rate of 29% in those requiring left ventricular assist and 13% in those requiring biventricular assist. Although complications were ubiquitous in this mortally ill patient population, in 5,235 pump-hours, no pump thrombosis was observed. Hospital survivors followed for 4 months to 6 years have enjoyed an improved functional class. We conclude that the Sarns centrifugal pump is an effective cardiac assist device when used to salvage patients otherwise unweanable from cardiopulmonary bypass. Partial left ventricular bypass using a centrifugal pump has become our procedure of choice for unloading the left ventricle and for maintenance of distal aortic perfusion pressure when performing surgery on the thoracic aorta. This clinical experience with the Sarns centrifugal pump appears to be similar to that reported with other centrifugal assist devices.

  13. Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH deficiency.

    Directory of Open Access Journals (Sweden)

    Luu-Ly Pham

    Full Text Available BACKGROUND: Congenital isolated adrenocorticotrophic hormone (ACTH deficiency may be rare, but it could be an underestimated cause of neonatal death. Our objective was to shorten the time between first symptoms and diagnosis. METHODS: This single-centre retrospective case-cohort study was carried out on eight consecutive patients. RESULTS: Two had the neonatal form and 6 the late onset form. Six were admitted to an intensive care unit at least once for seizures with hypoglycemia, major hypothermia, fever, and/or collapsus. The 2 neonatal cases presented with hypoglycemia and in a state of "apparent death" at birth or hypothermia (29°C at 6 days. All 6 late onset cases had also been admitted to an emergency department 1-3 times, but had left hospital incorrectly diagnosed. Their first symptoms were noted at 3-12.3 years, and they were diagnosed at 3.3-14.4 years. All had hypoglycemia, and 4 had had seizures. The presenting symptoms were vomiting and/or abdominal pain, asthenia, irritability, difficulty with physical activities, and anorexia. The school performance of 4 deteriorated. Two underwent psychotherapy and treatment for depression, which was stopped when Hydrocortisone® replacement therapy began. The plasma concentrations in spontaneous hypoglycemia were: ACTH<5 to 17.1 pg/mL, with concomitant cortisol <3.5 to 37 ng/mL. The plasma dehydroepiandrosterone sulfate (DHAS concentrations were low in the 7 evaluated. The coding sequence of TPIT was normal in all. CONCLUSION: Several unexplained symptoms in a child, mainly gastro-intestinal symptoms and seizures due to hypoglycemia, may indicate ACTH deficiency. A low or normal basal plasma ACTH despite concomitant low cortisol at 8 a.m. and/or in spontaneous hypoglycemia, associated with low DHAS, in a patient not given corticosteroids is highly suggestive of ACTH deficiency. The isolated character of ACTH deficiency must be confirmed by determining the other hypothalamic-pituitary functions

  14. U.S. survey of surgical capabilities and experience with surgical procedures in patients with congenital haemophilia with inhibitors.

    Science.gov (United States)

    Shapiro, A; Cooper, D L

    2012-05-01

    General guidelines exist for the use of recombinant activated factor VII (rFVIIa) to maintain haemostasis during surgery in congenital haemophilia A and B patients with high responding inhibitors (CHwI). Individual surgical plans are required and based upon historical therapy response, adverse events and anticipated procedure. Surgical interventions are feasible, yet it remains unclear how many US hemophilia treatment centres (HTCs) perform procedures in this fragile population. To better understand the US HTC surgical experience in CHwI patients and the number/types of procedures performed, a 21-question survey was sent to 133 US HTCs, with follow-up for response clarification and to non-responders. 98/133 HTCs (74%) responded, with 87 currently treating CHwI patients. In the last decade, 76/85 HTCs performed 994 surgeries on CHwI patients. Sites were experienced in the following procedures: central line insertion/removal (73 HTCs), dental (58), orthopaedic (52), abdominal (23), cardiovascular (14) and otolaryngologic (11). Experience with orthopaedic surgeries included synovectomies - arthroscopic (23 HTCs), radioisotopic (22), and open (7); joint replacement (18); fracture repair (14); and arthrodesis (8). Treatment modalities included rFVIIa bolus (83 HTCs) or continuous infusions (9), plasma-derived activated prothrombin complex concentrate (pd-aPCC) (55), antifibrinolytics (51), topical haemostatic agents (29), factor VIII (16) and fibrin sealants (14). Protocols for bypassing agents were used by 31/92 (33%) HTCs. Most US HTCs surveyed care for CHwI patients (74%) and have experience in minor surgery; fewer HTCs reported complex orthopaedic surgical experience. Identification of best practices and surgical barriers is required to guide future initiatives to support these patients.

  15. Congenital lobar emphysema

    Science.gov (United States)

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  16. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  17. Radiological imaging of congenital hand anomalies - a 6-year single-centre experience and what the hand surgeons want to know

    Energy Technology Data Exchange (ETDEWEB)

    Gerety, E.L.; Hopper, M.A. [Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Grant, I. [Cambridge University Hospitals NHS Foundation Trust, Department of Plastic Surgery, Cambridge (United Kingdom)

    2014-12-19

    Congenital hand anomalies present a rare but important physical and emotional challenge for children and parents. Radiological imaging is important for accurate diagnosis, to aid decision making and to monitor changes in the growing hand. The goal of any treatment is to help the child achieve his/her maximum potential, to provide a useful hand with attention to cosmesis. We investigated the range of congenital hand anomalies imaged in a tertiary referral centre. We examined the timing of imaging and the key clinical questions. The radiology imaging system was searched retrospectively for radiographs of congenital hand anomalies over a 6-year period. The images were reviewed and patient demographics, diagnosis and other imaging recorded. Over 6 years, 85 patients had imaging. Twenty-three patients had bilateral problems and 11 had recognised syndromes. The most common abnormalities imaged were duplicated thumbs (28 %), followed by syndactyly (18 %). Children were first imaged as early as 1 day old, with the median age of initial imaging 12 months. Thumb duplication and syndactyly are the most common conditions for which radiographs are requested at our hospital, although overall syndactyly is considered the most common congenital hand anomaly. For a variety of reasons, children are often imaged very early, before review by the Specialist in Children's Hand Surgery (despite surgery being unlikely before 1 year of age.) We discuss the classification systems and specific issues that hand surgeons want to know from the radiologists. (orig.)

  18. Experiences and Outcomes of Transition from Pediatric to Adult Health Care Services for Young People with Congenital Heart Disease: A Systematic Review.

    Science.gov (United States)

    Heery, Emily; Sheehan, Aisling M; While, Alison E; Coyne, Imelda

    2015-01-01

    This review synthesizes the empirical literature on outcomes and experiences of transfer and transition from pediatric to adult care for young people with congenital heart disease. A systematic review of papers published between January 2001 and May 2013 that examined outcomes or experiences of transfer and transition among young people with congenital heart disease was conducted. Data were extracted by two independent reviewers with the outcomes data combined using narrative synthesis and the experiences data integrated using thematic synthesis. Thirteen papers were included in the review: six reported outcomes following transfer, six reported experiences of transfer and transition, and one reported both outcomes and experiences. The review data indicate that high proportions of young people were lost to follow-up or experienced long gaps in care after leaving pediatric cardiology. Factors that protected against loss to follow-up or lapse in care included: beliefs that specialized adult care was necessary; poorer health status; attendance at pediatric appointments without parents; and pediatric referral to an adult congenital heart disease center. Data on experiences highlighted that many young people were unconcerned about transition, but lacked knowledge about their condition and were insufficiently prepared for transfer. In terms of adult services, many young people desired continuity in the quality of care, youth-oriented facilities, a personalized approach, and for their parents to remain involved in their care, but in a secondary, supportive capacity. In conclusion, the high proportions of young people lost to follow-up highlight the need for formal transition programs, which ensure a planned and coordinated transfer. Patients with congenital heart disease need education throughout adolescence about the implications of their condition, the differences between pediatric and adult services, and self-care management.

  19. Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000-2004): It's Prevalence and Clinical Characteristics.

    Science.gov (United States)

    Fujiwara, Fumie; Fujikura, Kaori; Okuhara, Koji; Tsubaki, Jyunko; Fukushi, Masaru; Fujita, Kozo; Fujieda, Kenji; Tajima, Toshihiro

    2008-01-01

    In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the neonatal period. The aim of this study was to clarify the prevalence and clinical characteristics of central CH. For this purpose, the screening program requested serum from infants with free T4 concentrations below the cut off value regardless of the TSH levels. Between January 2000 and December 2004, 83,232 newborns were screened and six central CH patients were detected as a result of follow-up of low free T4 and non-elevated TSH screening (1:13,872). This frequency is higher than in other studies. Four patients showed multiple pituitary hormone deficiency with pituitary malformations on magnetic resonance imaging. One patient was diagnosed as having Prader-Willie syndrome. The remaining patient was considered to have isolated central CH. Our study demonstrated that the frequency of central CH is 1:13,872. Free T4 measurement would also be advantageous in early recognition of multiple pituitary hormone deficiency.

  20. Congenital malformations of the brain: Pathological, embryological, clinical, radiological, and genetic aspects

    Energy Technology Data Exchange (ETDEWEB)

    Norman, M.G.; McGillivray, B.; Kalousek, D.K.; Hill, A.; Poskitt, K.

    1995-12-31

    Although I can quibble with the treatment of a few topics, this is by far the best book ever written on human brain malformations. The senior author has studied the pathology of human brain malformations throughout her career and has strengthened the book greatly by seeking coauthors to help with critical areas such as brain imaging, clinical management, and, especially, genetics.

  1. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  2. Hybrid Surgery Options for Complex Clinical Scenarios in Adult Patients with Congenital Heart Disease: Three Case Reports

    Science.gov (United States)

    Rapetto, Filippo; Kenny, Damien; Turner, Mark; Parry, Andrew; Stoica, Serban; Uzun, Orhan; Caputo, Massimo

    2017-01-01

    The strategy for the management of adult patients with congenital heart disease (CHD) often represents a challenge for cardiac surgeons and cardiologists due to complex anatomy, wide range of clinical presentations, and a high-risk profile. However, hybrid approach may represent an attractive solution. We report three cases of adult patients previously operated for CHD and recently treated with a hybrid approach in our institution. Case 1: a 76-year-old woman with permanent atrial fibrillation, lung disease, chronic kidney disease, microcytic anemia, and type II diabetes mellitus, previously operated for atrial septal defect closure and pulmonary valvotomy, presented with severe pulmonary regurgitation and advanced right ventricular failure. In order to minimize the surgical risk, a hybrid approach was used: an extensive right ventricular outflow tract (RVOT) plication was followed by implantation of an Edwards Sapien XT prosthesis in the RVOT through the right ventricular apex, without cardiopulmonary bypass. Case 2: a 64-year-old man with previous atrial septum excision and pericardial baffle for partial anomalous pulmonary venous drainage with intact interatrial septum, presented with worsening dyspnea, right ventricular failure, and pulmonary hypertension caused by baffle stenosis. His comorbidities included coronary artery disease, atrial flutter, and previous left pneumonectomy. After performing a redo longitudinal median sternotomy, a 20-mm stent was implanted in the baffle with access through the superior vena cava. Case 3: a 50-year-old man, with previous atrioventricular septal defect repair, followed by mitral valve replacement with a mechanical prosthesis, subsequently developed a paravalvular leak (PVL) with severe mitral regurgitation and severe left ventricular dysfunction. He underwent a transapical PVL device closure with two Amplatzer Vascular Plugs. In our opinion, hybrid surgery is a promising therapeutic modality that increases the available

  3. Transmyocardial laser revascularization. Early clinical experience

    Directory of Open Access Journals (Sweden)

    Oliveira Sérgio Almeida de

    1999-01-01

    Full Text Available OBJECTIVE: To analyze the initial clinical experience of transmyocardial laser revascularization (TMLR in patients with severe diffuse coronary artery disease. METHODS: Between February, 1998 and February, 1999, 20 patients were submitted to TMLR at the Heart Institute (InCor, University of São Paulo Medical School, Brazil, isolated or in association with conventional coronary artery bypass graft (CABG. All patients had severe diffuse coronary artery disease, with angina functional class III/IV (Canadian Cardiovascular Society score unresponsive to medical therapy. Fourteen patients were submitted to TMLR as the sole therapy, whereas 6 underwent concomitant CABG. Fifty per cent of the patients had either been previously submitted to a CABG or to a percutaneous transluminal coronary angioplasty (PTCA. Mean age was 60 years, ranging from 45 to 74 years. RESULTS: All patients had three-vessel disease, with normal or mildly impaired left ventricular global function. Follow-up ranged from 1 to 13 months (mean 6.6 months, with no postoperative short or long term mortality. There was significant symptom improvement after the procedure, with 85% of the patients free of angina, and the remaining 15 % of the patients showing improvement in functional class, as well as in exercise tolerance. CONCLUSION: This novel technique can be considered a low risk alternative for a highly selected group of patients not suitable for conventional revascularization procedures.

  4. Congenital segmental dilatation of jejunoileal region in a newborn: Unusual clinical and radiologic presentation

    Directory of Open Access Journals (Sweden)

    Harjai M

    2010-01-01

    Full Text Available Segmental dilatation of the ileum is one of the uncommon causes of intestinal obstruction in neonates. We present a case of slow transit of bowel contents leading to suspicion of functional bowel obstruction in a new born, which on exploration turned out to be a case of segmental dilatation of the jejuno-ileal region. The clinical and radiological evaluation was suggestive of hypomotility disorder of gut, resulting in diagnostic dilemma and delayed surgical intervention.

  5. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure......OBJECTIVE: To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. MATERIALS AND METHODS: Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh...

  6. A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients.

    Science.gov (United States)

    Costello, John P; Weiderhold, Allison; Louis, Clauden; Shaughnessy, Conner; Peer, Syed M; Zurakowski, David; Jonas, Richard A; Nath, Dilip S

    2015-06-01

    The objective of this study was to examine a large institutional experience of patients with trisomy 13 and trisomy 18 in the setting of comorbid congenital heart disease and present the outcomes of surgical versus expectant management. It is a retrospective single-institution cohort study. Institutional review board approved this study. Thirteen consecutive trisomy 18 patients and three consecutive trisomy 13 patients (sixteen patients in total) with comorbid congenital heart disease who were evaluated by our institution's Division of Cardiovascular Surgery between January 2008 and December 2013 were included in the study. The primary outcome measures evaluated were operative mortality (for patients who received surgical management), overall mortality (for patients who received expectant management), and total length of survival during follow-up. Of the thirteen trisomy 18 patients, seven underwent surgical management and six received expectant management. With surgical management, operative mortality was 29 %, and 80 % of patients were alive after a median follow-up of 116 days. With expectant management, 50 % of patients died before hospital discharge. Of the three patients with trisomy 13, one patient underwent surgical management and two received expectant management. The patient who received surgical management with complete repair was alive at last follow-up over 2 years after surgery; both patients managed expectantly died before hospital discharge. Trisomy 13 and trisomy 18 patients with comorbid congenital heart disease can undergo successful cardiac surgical intervention. In this population, we advocate that nearly all patients with cardiovascular indications for operative congenital heart disease intervention should be offered complete surgical repair over palliative approaches for moderately complex congenital cardiac anomalies.

  7. Unsupported valvuloplasty in children with congenital mitral valve anomalies. Late clinical results

    Directory of Open Access Journals (Sweden)

    Lorier Gabriel

    2001-01-01

    Full Text Available OBJECTIVE: To analyze late clinical evolution after surgical treatment of children, with reparative and reconstructive techniques without annular support. METHODS: We evaluated 21 patients operated upon between 1975 and 1998. Age 4.67±3.44 years; 47.6% girls; mitral insufficiency 57.1% (12 cases, stenosis 28.6% (6 cases, and double lesion 14.3% (3 cases. The perfusion 43.10±9.50min, and ischemia time were 29.40±10.50min. The average clinical follow-up in mitral insufficiency was 41.52±53.61 months. In the stenosis group (4 patients was 46.39±32.02 months, and in the double lesion group (3 patients, 39.41±37.5 months. The echocardiographic follow-up was in mitral insufficiency 37.17±39.51 months, stenosis 42.61±30.59 months, and in the double lesion 39.41±37.51 months. RESULTS: Operative mortality was 9.5% (2 cases. No late deaths occurred. In the group with mitral insufficiency, 10 (83.3% patients were asymptomatic (p=0.04. The majorit y with mild reflux (p=0.002. In the follow-up of the stenosis group, all were in functional class I (NYHA; and the mean transvalve gradient varied between 8 and 12mmHg, average of 10.7mmHg. In the double lesion group, 1 patient was reoperated at 43 months. No endocarditis or thromboembolism were reported. CONCLUSION: Mitral stenosis repair has worse late results, related to the valve abnormalities and associated lesions. The correction of mitral insufficiency without annular support showed good long-term results.

  8. Clinical Experience for Treating the Infants With Critical Congenital Isolated Right Ventricular Outflow Tract Obstruction in 11 Years%治疗先天性重症孤立性右心室流出道梗阻11年的临床经验

    Institute of Scientific and Technical Information of China (English)

    张瑛; 杨克明; 张浩; 胡盛寿; 李守军; 刘迎龙; 闫军; 沈向东; 李永青; 花中东; 郑哲

    2011-01-01

    Objective: To compare the treating effect of infants with critical congenital isolated right ventricular outflow tract obstruction (RVOTO) by either traditional surgical operation or hybrid technique in 11 years.Methods:We summarized 127 infants with critical congential isolated RVOTO who underwent either surgical operation or bybrid technique in our hospital from 1998 to 2009. The infants were 2 days ~ 12 months(5. 7±0.3months) of age including 18 neonates and divided as follows:Group A,75 infants received traditional surgical operation, 13 of them suffering from pulmonary atresia with intact ventricular septum ( Al group)and 62 with critical pulmonary valve stenosis ( A2 group) ;and Group B,52 infants received hybrid technique treatment ( trans-ventricle balloon pulmonary valvuloplasty) ,2.5 of them suffering from pulmonary atresia with intact ventricular septum ( BI group) and 27 with critical pulmonary valve stenosis ( B2 group). We studied the in-hospital and follow-up conditions in all patients.Results:There were 12 in-hospital deaths in Group A as 4 in Al group and 8 in A2 group,no in-hospital death in Group B.100 patients were followed-up for the average of (24. 1±26.4)months ,and there were 5 late deaths in Group B,no late death in Group A during the follow-up period of time.Conclusion:Surgical trans-ventricle balloon pulmonary valvuloplasty can improve the survival rate of infants with isolated RVOTO at peri operation and create the chance for biventricular correction in the future. Meanwhile,an additional source of modified B-T shunt might be the important choice for infants with hyperplasia of right ventricle.%目的:介绍采用传统的外科手术与杂交技术治疗先天性重症孤立性右心室流出道梗阻11年的临床经验.方法:我院1998-01至2009-12治疗先天性重症孤立性右心室流出道梗阻小婴儿127例,年龄2天~12个月,平均年龄(5.7±0.3)个月,其中新生儿18例.127例患儿按照治疗方法和肺

  9. Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog

    Directory of Open Access Journals (Sweden)

    Mariana Isa Poci Palumbo

    2011-07-01

    Full Text Available A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.The complete absence of the eyeball is rare in dogs and cats, and hydrocephalus is commonly seen as a congenital disorder in toy or brachycephalic dogs before one year old. This paper describes for the first time in Brazil the occurrence of bilateral clinical anophthalmia associated to congenital hydrocephalus in a dog.

  10. 先天性白内障患儿母亲照护体验的质性研究%Mother′s nursing experience of children with congenital cataract:a qualitative research

    Institute of Scientific and Technical Information of China (English)

    严晓玲; 黄静育

    2016-01-01

    Objective To probe into the mother′s real experience and inner demand of nursing children with congenital cataract, and to explore the nursing countermeasures to promote physical and mental health. Methods A deep interview had been conducted in 8 mothers of children with congenital cataract with living record and note, and all data was analyzed by Claizzi to distill the theme. Results The mother′s nursing experience of children with congenital cataract could summarize into 4 themes: self-accusation and regret, overweight psychological burden, confronting multiple issues, social support and active clinical demand. Conclusions The understanding of mother′s real experience and inner feeling of children with congenital cataract can help nursing staff to provide personalized nursing countermeasures and improve maternal quality of life, so as to promote child′s rehabilitation.%目的 深入了解先天性白内障患儿母亲照护患儿期间的真实体验和内心需求,探索促进其身心健康的护理措施.方法 运用质性研究的方法 对8名先天性白内障患儿母亲进行深入访谈,现场录音和笔录,运用Claizzi分析方法 进行分析,提炼出主题.结果 先天性白内障患儿母亲照护体验可以归纳为4个主题:自责与后悔,心理负担过重,面临多重问题,社会支持和临床需求迫切.结论 了解先天性白内障患儿母亲照顾患儿的真实体验和内心感受可帮助护理人员提供个性化的护理措施,提高患儿母亲的生活质量,从而促进患儿的康复.

  11. Does intravenous sildenafil clinically ameliorate pulmonary hypertension during perioperative management of congenital heart diseases in children? - A prospective randomized study

    Directory of Open Access Journals (Sweden)

    Vipul Krishen Sharma

    2015-01-01

    Full Text Available Background: Pulmonary hypertension (PHT, if present, can be a significant cause of increased morbidity and mortality in children undergoing surgery for congenital heart diseases (CHD. Various techniques and drugs have been used perioperatively to alleviate the effects of PHT. Intravenous (IV sildenafil is one of them and not many studies validate its clinical use. Aims and Objectives: To compare perioperative PaO 2 - FiO 2 ratio peak filling rate (PFR, systolic pulmonary artery pressure (PAP - systolic aortic pressure (AoP ratio, extubation time, and Intensive Care Unit (ICU stay between two groups of children when one of them is administered IV sildenafil perioperatively during surgery for CHDs. Materials and Methods: Patients with ventricular septal defects and proven PHT, <14 years of age, all American Society of Anesthesiologists physical status III, undergoing cardiac surgery, were enrolled into two groups - Group S (IV sildenafil and Group C (control - over a period of 14 months, starting from October 2013. Independent t-test and Mann-Whitney U-test were used to compare the various parameters between two groups. Results: PFR was higher throughout, perioperatively, in Group S. PAP/AoP was 0.3 and 0.4 in Group S and Group C, respectively. In Group S, mean group extubation time was 7 ± 7.34 h, whereas in Group C it was 22.1 ± 10.6. Postoperative ICU stay in Group S and Group C were 42.3 ± 8.8 h and 64.4 ± 15.9 h, respectively. Conclusion: IV sildenafil, when used perioperatively, in children with CHD having PHT undergoing corrective surgery, improves not only PaO 2 - FiO 2 ratio and PAP - AoP ratio but also reduces extubation time and postoperative ICU stay.

  12. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  13. Clinical features of different clinical forms of childhood congenital hepatic ifbrosis%儿童先天性肝纤维化临床分型及特征

    Institute of Scientific and Technical Information of China (English)

    吴欣; 杜霄壤; 丁金芳; 吴孟晋; 罗生强; 冯兴中

    2016-01-01

    ObjectiveTo compare the clinical features of children with different clinical forms of congenital hepatic ifbrosis (CHF), and provides a description of the characteristics of childhood CHF.MethodsSixty children with CHF between January 2002 and June 2015 were enrolled, including 26 children with portal hypertensive CHF (PH CHF), 3 children with cholangitic CHF, 30 children with combined portal hypertensive and cholangitic CHF (mixed CHF), and 1 child with latent forms of CHF. The medical data of 26 children with PH CHF and 30 children with mixed CHF, including gender, age, clinical manifestations, physical signs, laboratory tests and imaging characteristics, were retrospectively studied.ResultsFever, jaundice and hepatomegaly were more frequently noted in children with mixed CHF than in those with PH CHF (P0.05);混合型患儿凝血酶原活动度、白细胞计数、血小板计数、血小板平均体积、丙氨酸转氨酶、天冬氨酸转氨酶、碱性磷酸酶、ν谷氨酰转肽酶、亮氨酸氨基肽酶和总胆汁酸水平高于门脉高压型患儿,国际标准化比值和白蛋白水平低于门脉高压型患儿(P<0.05)。结论儿童CHF中以门脉高压型和混合型常见,门脉高压型和混合型均以肝硬化、肝脾肿大等门脉高压表现明显,但混合型常伴肝损伤。

  14. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  15. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  16. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  17. Prenatal diagnosis and clinical significance of fetal congenital heart disease%胎儿先天性心脏病产前诊断与临床意义

    Institute of Scientific and Technical Information of China (English)

    叶林

    2012-01-01

    Congenital heart disease is one of the most common birth defects.In early pregnancy,congenital heart disease screening methods mainly include neck translucency thickness measurement,ductus venosus flow measurement and fetal echocardiography.In the second trimester fetal heart disease most directly by fetal ultrasound examination for diagnosis of heartbeat,besides cardiac anatomic abnormalities,arrhythmia the diagnosis and assessment of heart function also are the important examination content.Focusing on more congenital heart disease related gene researches can provide reliable basis for prenatal diagnosis.Through the fetal congenital heart disease screening intervention,physicians can help early formulation of clinical decision making,alleviate the burden of the families,which has obvious social and economic benefits.%先天性心脏病是最常见的出生缺陷之一.孕早期先天性心脏病筛查的方法主要有颈后透明层厚度测量、静脉导管血流测量以及直接进行胎儿超声心动图检查等.孕中期绝大部分的胎儿心脏病可以直接通过胎儿超声心动图检查获得诊断,除心脏解剖结构畸形外,心律失常的诊断以及心功能的评估也是重要检查内容.加强先天性心脏病的相关基因研究,也能够为产前诊断提供可靠依据.对胎儿先天性心脏病进行筛查干预,能够帮助医生早期制定临床决策,缓解家庭负担,有明显的社会效益.

  18. Congenitally Deaf Children's Care Trajectories in the Context of Universal Neonatal Hearing Screening: A Qualitative Study of the Parental Experiences

    Science.gov (United States)

    Hardonk, Stefan; Desnerck, Greetje; Loots, Gerrit; Van Hove, Geert; Van Kerschaver, Erwin; Sigurjonsdottir, Hanna Bjorg; Vanroelen, Christophe; Louckx, Fred

    2011-01-01

    The objective of this study is to examine the early care trajectories of congenitally deaf children from a parental perspective, starting with universal neonatal hearing screenings. The analysis using a three-dimensional care trajectory concept is aimed at developing a basic typology of postscreening care trajectories. Children with…

  19. Histidine-tryptophan-ketoglutarate solution decreases mortality and morbidity in high-risk patients with severe pulmonary arterial hypertension associated with complex congenital heart disease: an 11-year experience from a single institution

    Science.gov (United States)

    Li, X.W.; Lin, Y.Z.; Lin, H.; Huang, J.B.; Tang, X.M.; Long, X.M.; Lu, W.J.; Wen, Z.K.; Liang, J.; Li, D.Y.; Zhao, X.F.

    2016-01-01

    Cardioplegic reperfusion during a long term ischemic period interrupts cardiac surgery and also increases cellular edema due to repeated solution administration. We reviewed the clinical experiences on myocardial protection of a single perfusion with histidine-tryptophan-ketoglutarate (HTK) for high-risk patients with severe pulmonary arterial hypertension associated with complex congenital heart disease. This retrospective study included 101 high-risk patients undergoing arterial switch operation between March 2001 and July 2012. We divided the cohort into two groups: HTK group, myocardial protection was carried out with one single perfusion with HTK solution; and St group, myocardial protection with conventional St. Thomas' crystalloid cardioplegic solution. The duration of cardiopulmonary bypass did not differ between the two groups. The mortality, morbidity, ICU stay, post-operative hospitalization time, and number of transfusions in HTK group were lower than those in St group (P<0.05). Univariate and multivariate analysis showed that HTK is a statistically significant independent predictor of decreased early mortality and morbidity (P<0.05). In conclusion, HTK solution seems to be an effective and safe alternative to St. Thomas' solution for cardioplegic reperfusion in high-risk patients with complex congenital heart disease. PMID:27191607

  20. Clinical observation of isolated congenital anosmia%孤立性先天失嗅患者临床观察

    Institute of Scientific and Technical Information of China (English)

    李丽; 魏永祥; 王宁宇; 苗旭涛; 杨凌; 葛晓辉; 吴莹; 刘佳; 田俊

    2013-01-01

    Objective To introduce 8 patients with isolated congenital anosmia and to discuss the clinical manifestations,imaging characteristics and family characteristics of this rarely seen disorder.Methods Eight patients with isolated congenital anosmia treated between April 2007 and April 2012 were reviewed retrospectively.There were 4 males and 4 females.A detailed medical history collection,physical examination,nasal endoscopy,T&T and Sniffin' Sticks subjective olfactory function tests,olfactory eventrelated potentials sinonasal computed tomography scan and sex hormones level monitoring were performed in all patients.Seven cases underwent magnetic resonance image of olfactory pathway examination.Results All patients were anosmias without evidence of other defects.ENT physical examination,nasal endoscopy and computed tomography scan were normal except 4 cases with obvious nasal septum deviation,2 cases with concha bullosa.Subjective olfactory test indicated all of them were anosmia.Olfactory event-related potentials were obtained in only 1 patient.Magnetic resonance imaging revealed the smaller or atrophy olfactory bulb and olfactory tract in five cases,the absence of olfactory bulbs and tracts in two case.A female patient did not have MRI examination because of wearing IUDs.Detection of 8 patients of sex hormones were normal.Family characteristics:3 patients showed family inheritance pattern.Conclusions The diagnosis of isolated congenital anosmia should be based on chief complaint,medical history,physical examination,olfactory test,nasal endoscopy,olfactory testing,olfactory imaging and olfactory event-related potentials.Magnetic resonance image of olfactory pathway and olfactory event-related potentials have important value for the diagnosis.More attention should be paid to the genetic susceptibility of the family.%目的 探讨孤立性先天失嗅患者的临床表现、影像学特点及家系特征.方法 回顾分析2007年4月至2012年4月收治的8例孤立

  1. Ten novel FBN2 mutations in congenital contractural arachnodactyly : Delineation of the molecular pathogenesis and clinical phenotype

    NARCIS (Netherlands)

    Gupta, PA; Putnam, EA; Carmical, SG; Kaitila, [No Value; Steinmann, B; Child, A; Danesino, C; Metcalfe, K; Berry, SA; Chen, E; Delorme, CV; Thong, MK; Ades, LC; Milewicz, DM

    2002-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1, res

  2. Congenital Short Bowel Syndrome : from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

    NARCIS (Netherlands)

    van der Werf, Christine S.; Halim, Danny; Verheij, Joke B. G. M.; Alves, Maria M.; Hofstra, Robert M. W.

    2015-01-01

    Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder in which the mean length of the small intestine is substantially reduced when compared to its normal counterpart. Families with several affected members have been described and CSBS has been suggested to have a genetic basis.

  3. Plasmodium vivax congenital malaria in an area of very low endemicity in Guatemala: implications for clinical and epidemiological surveillance in a malaria elimination context

    Directory of Open Access Journals (Sweden)

    Castellanos María Eugenia

    2012-12-01

    Full Text Available Abstract This is a report of the first Plasmodium vivax congenital malaria case in Guatemala and the first case in Latin America with genotypical, histological and clinical characterization. The findings show that maternal P. vivax infection still occurs in areas that are in the pathway towards malaria elimination, and can be associated with detrimental health effects for the neonate. It also highlights the need in very low transmission areas of not only maintaining, but increasing awareness of the problem and developing surveillance strategies, based on population risk, to detect the infection especially in this vulnerable group of the population.

  4. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.

    Science.gov (United States)

    Adachi, Hiroyuki; Takahashi, Ikuko; Higashimoto, Ken; Tsuchida, Satoko; Noguchi, Atsuko; Tamura, Hiroaki; Arai, Hirokazu; Ito, Tomoo; Masue, Michiya; Nishibori, Hironori; Takahashi, Tsutomu; Soejima, Hidenobu

    2013-01-01

    Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome involving tumor predisposition. BWS is caused by various epigenetic or genetic alterations that disrupt the imprinted genes on chromosome 11p15.5 and the clinical findings of BWS are highly variable. Hyperinsulinemic hypoglycemia is reported in about half of all babies with BWS. We identified an infant with diazoxide-unresponsive congenital hyperinsulinism (HI) without any apparent clinical features suggestive of BWS, but diagnosed BWS by molecular testing. The patient developed severe hyperinsulinemic hypoglycemia within a few hours after birth, with macrosomia and mild hydronephrosis. We excluded mutations in the K(ATP) channel genes on chromosome 11p15.1, but found a rare homozygous single nucleotide polymorphism (SNP) of ABCC8. Parental SNP pattern suggested paternal uniparetal disomy in this region. By microsatellite marker analysis on chromosome 11p15, we could diagnose BWS due to the mosaic of paternal uniparental disomy. Our case suggests that some HI of unknown genetic etiology could involve undiagnosed BWS with no apparent clinical features, which might be diagnosed only by molecular testing.

  5. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  6. Mesenchymal stem cells: from experiment to clinic

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    Otto William R

    2011-09-01

    Full Text Available Abstract There is currently much interest in adult mesenchymal stem cells (MSCs and their ability to differentiate into other cell types, and to partake in the anatomy and physiology of remote organs. It is now clear these cells may be purified from several organs in the body besides bone marrow. MSCs take part in wound healing by contributing to myofibroblast and possibly fibroblast populations, and may be involved in epithelial tissue regeneration in certain organs, although this remains more controversial. In this review, we examine the ability of MSCs to modulate liver, kidney, heart and intestinal repair, and we update their opposing qualities of being less immunogenic and therefore tolerated in a transplant situation, yet being able to contribute to xenograft models of human tumour formation in other contexts. However, such observations have not been replicated in the clinic. Recent studies showing the clinical safety of MSC in several pathologies are discussed. The possible opposing powers of MSC need careful understanding and control if their clinical potential is to be realised with long-term safety for patients.

  7. Congenital dacryocystocele: Clinical treatment and analysis%先天性泪囊突出的临床治疗分析

    Institute of Scientific and Technical Information of China (English)

    韩立坡; 王凤仙; 张瑜; 王争; 封秀蓉; 刘秀平; 李慧

    2013-01-01

    Objective To discuss the treatment and the time of congenital dacryocystocele,through the analysis of clinical manifestations and characteristics of congenital dacryocystocele.Methods Retrospective analysis of congenital dacryocystocele 23 cases (28eyes) treated in our hospital from August 2010 to October 2012,to summarize the clinical manifestations and characteristics of congenital dacryocystocele and analyzed the treatment of congenital dacryocystocele and time choice.Results In 23 cases (28 eyes) of congenital dacryocystocele children,16 cases of male patients (19 eyes),7 female children (9 eyes),with an average age of 9 days,16 patients (20 eyes) with dacryocystitis or cellulitis; 2 cases (3 eyes) with respiratory distress.Six eyes were cured by dacryocyst massage,irrigation of lacrimal passage,application of antibiotic eye drops and other conservative method; 13 eyes were cured by the one probing of lacrimal passages; 5 eyes were cured by the two probing of lacrimal passages; 4 eyes were cured by nasal cyst rupture capsule.Conclusions Congenital dacryocystocele has a cure rate of conservative treatment.Concurrent infections in children need operation intervention,which can achieve satisfactory recovery effect.To a large extent,early operation treatment can prevent complications.%目的 探讨先天性泪囊突出的治疗手段及时机选择.方法 回顾分析2010年8月至2012年10月在保定市儿童医院就诊的23例先天性泪囊突出病例,总结先天性泪囊突出的临床表现及特征,分析先天性泪囊突出的治疗方法及时机选择.结果 23例(28只眼)先天性泪囊突出患儿,男性16例(19只眼),女性7例(9只眼),平均年龄9d,其中16例(20只眼)并发泪囊炎或蜂窝组织炎;2例(3只眼)并发呼吸窘迫.通过泪囊区按摩、泪道冲洗、患眼局部应用抗生素眼水等保守方法治愈6只眼;通过行一次泪道探通术治愈13只眼;行二次泪道探通术治愈5只眼;经鼻内窥镜直视

  8. Clinical features of early newborn infants with congenital heart disease%早期新生儿的先天性心脏病特点分析

    Institute of Scientific and Technical Information of China (English)

    余国萍; 毛梁元; 陈少稚

    2014-01-01

    Objective To analyze the clinical feature of early newborn infants with congenital heart disease.Methods We retrospectively analyzed the clinical features of 477 newborn infants with congenital heart disease born within seven days out of 28 050 live births in Shaoxing women and children hospital from October 1,2009 to September 30,2012.Infants with congenital heart disease were divided into single malformation group (240 cases),composite deformity group (199 cases) and multiple malformations group (38 cases).Differences of clinical feature were compared between the three groups.Results Atrial septal defect was the most malformation 91.6% (437/477).Incidence of preterm birth was higher in newborn inants with congenital heart disease [512.23/10 000(134/2 616)] than infants without without congenital heart disease [134.86/10 000 (343/25 434),P < 0.01].Proportion of preterm birth among the three congenital heart disease groups was similar (P > 0.05).The incidence of small for gestational age in congenital heart disease group(10.90%,52/477)was also significantly higher than those without congenital heart disease group (5.91%,1 630/27 573,P < 0.01).Small for gestational age with congenital heart disease of complex malformations,multiple malformations groups was higher than that in the single malformation group (P < 0.01 and P < 0.05).Conclusions Early newborn with atrial septal defect is the most common neonatal congenital heart disease.The incidence of preterm is higher in newborn infants with congenital heart disease.Complex and multiple malformations are linked with small for gestational age birth weight.%目的 探讨早期新生儿的先天性心脏病特点.方法 2009年10月1日至2012年9月30日在绍兴市妇幼保健院分娩的活产儿共28 050例,对其中出生7d内诊断为先天性心脏病的477例活产儿进行回顾性分析,统计先天性心脏病的发生率和类型.按心脏缺陷情况,将患儿分为单发畸形组(240

  9. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

    Science.gov (United States)

    Hanein, Sylvain; Perrault, Isabelle; Gerber, Sylvie; Tanguy, Gaëlle; Barbet, Fabienne; Ducroq, Dominique; Calvas, Patrick; Dollfus, Hélène; Hamel, Christian; Lopponen, Tuija; Munier, Francis; Santos, Louisa; Shalev, Stavit; Zafeiriou, Dimitrios; Dufier, Jean-Louis; Munnich, Arnold; Rozet, Jean-Michel; Kaplan, Josseline

    2004-04-01

    Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rod-cone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth.

  10. The experience of black parents/caretakers with the births and care of a child with profound congenital defects

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    M.S. Mabaso

    1990-09-01

    Full Text Available The reaction of Black families to the birth and care of a baby with profound congenital defects was researched using twenty case studies. It was found that the families went through stages of the grieving process, that they shifted from the Western/Christian viewpoint to the traditional viewpoint in their struggle to cope and that they find the existing services grossly inadequate.

  11. Insomnia: clinical experience with zolpidem (sanval

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    Yakov Iosifovich Levin

    2010-01-01

    Full Text Available The paper describes the present view of the problem of insomnia and gives a classification of sleep disorders and basic methods for their drug and non-drug therapy. Emphasis is placed on the role of the objective sleep study - polysomnography. The use of the current hypnotics belonging to a three Zs group and the minimization of administration of benzodiazepines are most important in pharmacotherapy for insomnia. The results of a clinical polysomnographic study of the effect of Zolpidem (Sanval in patients with insomnia are presented. The subjective evaluation of the beneficial effect of a 10-day course of Sanval is confirmed by the objective studies of the sleep pattern undergoing positive changes in the most important indicators, such as the process of falling asleep, the time of intrasleep awakenings, and the duration of Δ-sleep. The high safety and good tolerability of Sanval permit the latter to be assessed as an effective agent for the treatment of insomnia.

  12. Differences in clinical experiences of ADN and BSN students.

    Science.gov (United States)

    Oermann, M H

    1998-05-01

    Prior research has suggested that clinical experience for nursing students is stressful. Concern about making an error and harming the patient, limited knowledge and skills for practice, and difficulties in interacting with the teacher and others in the clinical setting are some of the stressors reported by students. Few studies have compared these stresses and the clinical experiences in general between students in associate degree (ADN) and baccalaureate (BSN) nursing programs. The purposes of this research were to compare the clinical experiences of ADN and BSN students at different levels in the programs and describe these experiences from the students' perspectives. As such, both quantitative and qualitative data were collected from 415 students in ADN and BSN programs in the Midwest. The ADN students reported significantly higher stress in clinical practice than BSN students (t = 2.16, p ADN and BSN students in clinical practice increased as they progressed through the programs. The semester prior to graduation was the most stressful time in terms of clinical practice for both ADN and BSN students. The instructor was the predominant stressor reported by students in ADN programs across all levels of the curriculum. Among BSN students, the most prevalent stresses were coping with demands associated with patient care and the clinical teacher. The findings highlight the important role of the clinical faculty in both types of nursing programs.

  13. Congenital dilatation of the large and segmental intrahepatic bile ducts (Caroli's disease in two Golden retriever littermates : clinical communication

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    R.D. Last

    2006-06-01

    Full Text Available Two, sibling, male Golden retriever puppies, 13 weeks of age, were presented with congenital biliary cysts of the liver involving both hepatic and segmental bile ducts, as well as bilateral polycystic kidney disease. Ultrasonography of the livers of both pups demonstrated segmental cystic lesions that were contiguous with the bile ducts. Histopathology revealed cystic ectatic bile duct hyperplasia and dysplasia with variable portal fibrosis in the liver, while in the kidneys there were radially arranged, cylindrically dilated cysts of the collecting ducts, which extended through the medulla and cortex. This pathology was compatible with that of congenital dilatation of the large and segmental bile ducts (Caroli's disease described in humans, dogs and rats. In humans Caroli's disease has an autosomal recessive inheritance pattern, while in rats activation of the MEK5/ERK cascade initiates the biliary dysgenesis of Caroli's disease in this species. However, the exact mode of inheritance and pathogenesis of Caroli's disease in dogs is as yet unknown. Previous reports on congenital hepatic cystic diseases of the dog have described Caroli's disease like lesions in various breeds, but these are believed to be the 1st reported cases in the Golden retriever breed.

  14. Congenital "self-healing" Langerhans cell histiocytosis (Hashimoto-Pritzker disease): a report of two cases with the same cutaneous manifestations but different clinical course.

    Science.gov (United States)

    Mandel, Victor Desmond; Ferrari, Chiara; Cesinaro, Anna Maria; Pellacani, Giovanni; Del Forno, Corrado

    2014-12-01

    Congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease is a rare condition present at birth or in the neonatal period characterized by small reddish-brown crusted papulonodular lesions. In most cases these lesions are not accompanied by systemic findings and tend to involute spontaneously within weeks or months, but in other cases there may be extracutaneous involvement and/or recurrence of the disease. This emphasizes that the clinical course is variable and a long-term follow-up is mandatory in order to reveal possible systemic involvement. We describe two cases of congenital self-healing Langerhans cell histiocytosis with widespread and very similar cutaneous manifestations but different clinical course. The first patient had multisystemic disease (with lymph nodes, bones, liver and lungs affected) that required systemic therapy. The second patient had cutaneous and bony lesions that resolved spontaneously. We think that the adjective "self-healing" is misleading and should be abandoned. We stress the importance of a complete systemic evaluation and the necessity of a long-term follow-up.

  15. [Clinical experience of automated double filtration plasmapheresis].

    Science.gov (United States)

    Lee, C T; Chuang, F R; Hsu, K T; Lam, K K; Liao, S C; Liu, C C; Chen, J B; Jang, S W; Chien, Y S; Pan, H H

    1996-12-01

    Double filtration plasmapheresis, one kind of fractionation plasmapheresis, was developed from membrane type plasmapheresis to remove only the pathogen and return the normal protein back to the patient. We started our automated double filtration plasmapheresis since December 1993. There were 13 patients who received one hundred treatments totally during one year period. And they are myasthenia gravis (8 patients); acute inflammatory demyelinating polyneuropathy (1 patient), multiple myeloma (1 patient); acquired factor VIII inhibitor (1 patient); autoimmune hemolytic anemia (1 patient); systemic lupus erythematous (1 patient). Technically double filtration plasmapheresis is easy to perform and time-saving. It also makes necessity of replacement fluid less frequent. Incidence of complication is rare, and this includes hypotension 2%, palpitation 1%, headache 1%, hemolysis 4%, air emboli 1%, high secondary pressure 2%, and no motality during our treatment. Clinical response is documented in cases of myasthenia gravis; acute inflammatory demyelinating polyneuropathy and acquired factor VIII inhibitor in our study. In conclusion, double filtration plasmapheresis is a time-saving, convenient, and safe therapeutic modality with rare complication. Because its effectiveness on limited kinds of diseases and costs relatively high price, thus plasmapheresis should be used in selected cases and treat aggressively if indicated.

  16. Terazosin, doxazosin, and prazosin: current clinical experience.

    Science.gov (United States)

    Akduman, B; Crawford, E D

    2001-12-01

    Lower urinary tract symptoms (LUTS) suggestive of benign prostatic obstruction are common in aging men. Nearly 25% of men >40 years of age have LUTS. Medical therapy with alpha-blockade is the most common method of medical therapy for benign prostatic obstruction. Multiple methods of minimally invasive surgical therapies have been introduced in the last decade. These methods include balloon dilatation, temporary and permanent urethral stents, various laser techniques, microwave thermotherapy, transurethral needle ablation, electrovaporization, and high-intensity focused ultrasound. alpha-Receptor blockers to reduce the sympathetic tone of the prostate are considered as first-line therapy to relieve the symptoms of benign prostatic hyperplasia. Selective alpha(1)-receptor blockers relax prostatic smooth muscle, relieve bladder outlet obstruction, and enhance urine flow with fewer side effects. In addition, it was determined that treating patients with alpha-blockers increases prostatic apoptosis. Pharmacokinetic activity, mode of action, clinical efficacy, and side effects of the selective alpha(1)-receptor blockers terazosin, doxazosin, and prazosin are reviewed.

  17. Clinical experience in appendiceal neuroendocrine neoplasms

    Science.gov (United States)

    Ozcelik, Caglar K.; Bozdogan, Nazan; Dibekoglu, Cengiz

    2015-01-01

    Aim of the study To analyse the incidence of appendiceal neuroendocrine neoplasms in appendectomy specimens and establish the epidemiological and histopathological features, treatment, and clinical course. Material and methods Between 2004 and 2013, 975 patients who underwent appendectomy in Ankara Oncology Education and Research Hospital were retrospectively analysed. Results Neuroendocrine neoplasm was detected in the nine of 975 (0.9%) patients. Neuroendocrine neoplasms were diagnosed in eight patients by appendectomy, which was performed because of the prediagnosis of acute appendicitis, and in one patient by the suspicious mass detection during surgical procedures that were done in the appendix for a different reason. Eight of the patients’ tumours were in the tip of the appendix, and one of the patients’ tumours was at the base of appendix. Tumour size in 77.8% of patients was equal or less than 1 cm, in 22.2% patients it was 1–2 cm. There was tumour invasion in the muscularis propria layer in four patients, in the serosa layer in three patients, and in the deep mesoappendix in two patients. Patients were followed for a median of 78 months. In the follow-up of patients who were operated because of colon cancer, metachronous colon tumour evolved. This patient died due to progressive disease. Other patients are still disease-free. Conclusions The diagnosis of neuroendocrine neoplasm is often incidentally done after appendectomy. Tumour size is important in determining the extent of disease and in the selection of the surgical method during operation. PMID:26793027

  18. Cartap hydrochloride poisoning: A clinical experience

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    Hari K Boorugu

    2012-01-01

    Full Text Available Cartap hydrochloride, a nereistoxin analog, is a commonly used low toxicity insecticide. We describe a patient who presented to the emergency department with alleged history of ingestion of Cartap hydrochloride as an act of deliberate self-harm. The patient was managed conservatively. To our knowledge this is the first case report of Cartap hydrochloride suicidal poisoning. Cartap toxicity has been considered to be minimal, but a number of animal models have shown significant neuromuscular toxicity resulting in respiratory failure. It is hypothesized that the primary effect of Cartap hydrochloride is through inhibition of the [ 3 H]-ryanodine binding to the Ca 2+ release channel in the sarcoplasmic reticulum in a dose-dependent manner and promotion of extracellular Ca 2+ influx and induction of internal Ca 2+ release. This results in tonic diaphragmatic contraction rather than paralysis. This is the basis of the clinical presentation of acute Cartap poisoning as well as the treatment with chelators namely British Anti Lewisite and sodium dimercaptopropane sulfonate.

  19. Clinical experience in T cell deficient patients

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    Cole Theresa S

    2010-05-01

    Full Text Available Abstract T cell disorders have been poorly understood until recently. Lack of knowledge of underlying molecular mechanisms together with incomplete data on long term outcome have made it difficult to assess prognosis and give the most effective treatment. Rapid progress in defining molecular defects, improved supportive care and much improved results from hematopoietic stem cell transplantation (HSCT now mean that curative treatment is possible for many patients. However, this depends on prompt recognition, accurate diagnosis and careful treatment planning. This review will discuss recent progress in our clinical and molecular understanding of a variety of disorders including: severe combined immunodeficiency, specific T cell immunodeficiencies, signaling defects, DNA repair defects, immune-osseous dysplasias, thymic disorders and abnormalities of apoptosis. There is still much to discover in this area and some conditions which are as yet very poorly understood. However, with increased knowledge about how these disorders can present and the particular problems each group may face it is hoped that these patients can be recognized early and managed appropriately, so providing them with the best possible outcome.

  20. Cartap hydrochloride poisoning: A clinical experience.

    Science.gov (United States)

    Boorugu, Hari K; Chrispal, Anugrah

    2012-01-01

    Cartap hydrochloride, a nereistoxin analog, is a commonly used low toxicity insecticide. We describe a patient who presented to the emergency department with alleged history of ingestion of Cartap hydrochloride as an act of deliberate self-harm. The patient was managed conservatively. To our knowledge this is the first case report of Cartap hydrochloride suicidal poisoning. Cartap toxicity has been considered to be minimal, but a number of animal models have shown significant neuromuscular toxicity resulting in respiratory failure. It is hypothesized that the primary effect of Cartap hydrochloride is through inhibition of the [(3)H]-ryanodine binding to the Ca(2+) release channel in the sarcoplasmic reticulum in a dose-dependent manner and promotion of extracellular Ca(2+) influx and induction of internal Ca(2+) release. This results in tonic diaphragmatic contraction rather than paralysis. This is the basis of the clinical presentation of acute Cartap poisoning as well as the treatment with chelators namely British Anti Lewisite and sodium dimercaptopropane sulfonate.

  1. Eosinophilic gastroenteritis: Clinical experience with 15 patients

    Institute of Scientific and Technical Information of China (English)

    Ming-Jen Chen; Cheng-Hsin Chu; Shee-Chan Lin; Shou-Chuan Shih; Tsang-En Wang

    2003-01-01

    AIM: To evaluate the clinic features of eosinophilicgastroenteritis and to examine the diagnosis, treatment,long-term outcome of this disease.METHODS: Charts with a diagnosis of eosinophilicgastroenteritis from 1984 to 2002 at Mackay Memorial Hospital were reviewed retrospectively. There were 15 patients diagnosed with eosinophilic gastroenteritis. The diagnosis was established in 13 by histologic evaluation of endoscopic biopsy or operative specimen and in 2 by radiologic imaging and the presence of eosinophilic ascites.RESULTS: All the patients had gastrointestinal symptoms and 12 (80 %) had hypereosinophilia (absolute eosinophil count 1 008 to 31 360/cm3). The most common symptoms were abdominal pain and diarrhea. Five of the 15 patients had a history of allergy. Seven patients had involvement of the mucosa, 2 of muscularis, and 6 of subserosa. One with a history of seafood allergy was successfully treated with an elimination diet. Another patient improved spontaneously after fasted for several days. The remaining 13 patients were treated with oral prednisolone, 10 to 40 mg/day initially,which was then tapered. The symptoms in all the patients subsided within two weeks. Eleven of the 15 patients were followed up for more than 12 months (12 to 104 months,mean 48.7), of whom 5 had relapses after discontinuing steroids (13 episodes). Two of these patients required longterm maintenance oral prednisolone (5 to 10 mg/day).CONCLUSION: Eosinophilic gastroenteritis is a rare condition of unclear etiology characterized by relapses and remissions. Short courses of corticosteroids are the mainstay of treatment, although some patients with relapsing disease require long-term low-dose steroids.

  2. Tinnitus: clinical experience of the psychosomatic connection

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    Salviati M

    2014-02-01

    the lack of coping capabilities can play a critical role in the clinical history of patients affected by severe tinnitus.Keywords: tinnitus, psychosomatics, stress, psychopathological dimensions, personality

  3. Ameloblastoma: Our clinical experience with 68 cases

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    Benjamin Fomete

    2014-01-01

    Full Text Available Introduction: In this environment, previous workers have reported on the challenges of managing large sized ameloblastoma of the jaws with less than adequate facilities. The aim of this review is to present the management of 68 cases of ameloblastoma with emphasis on surgical care. Materials and Methods: Retrospective survey of case notes of patients with histopathologic diagnosis of ameloblastoma (using the criteria of Barnes et al., 2005 seen between January 2006 and August 2010 at the Maxillofacial Unit, Ahmadu Bello University Teaching Hospital, Shika-Zaria, Nigeria was undertaken. Data collected includes histopathological diagnosis, age, gender, clinical information on site of lesion, form of intubation and surgical procedure performed. Results: Out of 94 patients, 68 with histological diagnosis of ameloblastoma (59 mandibular and 9 maxillary were operated within the study period. The remainder (26 was not treated in hospital. Among 68 patients treated, more were males (38 than females (30, giving a male to female ratio of 1.3:1. The age range was between 14 and 74 years (mean-standard deviation. The duration of the symptoms ranged from 7 months to 24 years, most were follicular ameloblastoma (n = 13 followed by acanthomatous type (n = 7. Endotracheal intubation was the most common (n = 55 followed by fiber optic laryngoscopy (n = 8. The surgical approach most used was extended Risdon with intraoral (n = 24 followed by extended Risdon with lip split and intraoral (n = 17. Segmental resection (en block formed the bulk of our procedures (n = 22 followed by subtotal mandibulectomy (n = 16. Conclusion: The treatment of ameloblastoma remains controversial. Its destructive nature has left patients with wide defects difficult to reconstruct.

  4. Review article: clinical experience with Prometheus.

    Science.gov (United States)

    Rifai, Kinan; Manns, Michael P

    2006-04-01

    Prometheus is a new extracorporeal liver support device which facilitates the combined removal of both albumin-bound and water-soluble toxins based upon the method of fractionated plasma separation and adsorption (FPSA). The pilot trial included 11 patients with acute-on-chronic liver failure and concomitant renal failure. Prometheus therapy was found to be safe except for a reversible decrease of blood pressure. In three patients, clotting of the secondary system occurred. Prometheus treatment significantly improved blood levels of protein-bound (conjugated bilirubin, bile acids, ammonia) and water-soluble (creatinine, urea) substances. Thus, Prometheus might be a new therapeutic option in patients with severe hepatorenal syndrome. Furthermore, there is some preliminary experience with Prometheus in the treatment of refractory cholestatic pruritus and in successful bridging to liver transplantation. In order to compare extraction capacities of Prometheus and the molecular adsorbent recirculating system (MARS), five patients were crossover-treated with both systems. Prometheus resulted in significantly higher reduction ratios of bilirubin, ammonia and urea. Another study closely monitored whether the device causes an unselective removal. Neither important cytokines nor coagulation factors were found to be removed. In conclusion, Prometheus seems to be a new therapeutic option in artificial liver support. A significant improvement of the biochemical milieu was already observed after two treatments. The potential to remove protein-bound and water-soluble substances has been shown without signs of a significant unselective removal.

  5. [Congenital epulis].

    Science.gov (United States)

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  6. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  7. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  8. Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene

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    İkbal Ok Bozkaya

    2015-06-01

    Full Text Available Congenital amegakaryocytic thrombocytopenia (CAMT generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL. The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients. Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

  9. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  10. Experience with free fibula transfer with screw fixation as a primary modality of treatment for congenital pseudarthosis of tibia in children - Series of 26 cases

    Directory of Open Access Journals (Sweden)

    Guru Dayal Singh Kalra

    2012-01-01

    Full Text Available Background: Congenital pseudarthrosis is one of the greatest challenges of paediatric orthopaedic practice. Treatment options and literature addressing this condition are numerous, reflecting the difficulty in management. We aimed to study the effectiveness of free fibula transfer as a primary modality of treatment in children with this condition in terms of achieving length, union, and normal axis of the involved leg. Materials and Methods: During the period of 2001 to 2010, 26 children with congenital pseudarthrosis of tibia between age group of 2-8 years were evaluated and were reconstructed using contra-lateral free fibula graft, and then patients were followed up for 5 years subsequently. Patients were examined and time of bony union, weight bearing ability and walking without support were noted. Any complication directly or indirectly related to surgery with any complication seen in the due course of follow up of 5 years was also taken care of. Results: In our experience with treatment of congenital pseudarthrosis over a span of 10 years with free fibula transfer, the results have been gratifying with no flap loss. All our patients had UNEVENTFUL post-op recovery. Only 2 patients out of 26 had non-union, for which cancellous bone grafting was done (7.6%. Most of the patients were ambulatory with support by 3-6 months and continued to walk without support after a span of 18-24 months. The incidence of stress fracture in our study over the follow-up period was 4 out of 26 pts (15.3%. None of them had any deformity in the donor leg. Conclusion: When compared to other surgical modalities of treatment of the problem in question, vascularised free fibula transfer has emerged as a real saviour with good patient compliance and less complication rate in our study. It achieves the desired target with no residual deformities and near normal to normal gait with no stigma of bone removal from other leg.

  11. Clinical and Applied Experience in Rehabilitation Counselor Education

    Science.gov (United States)

    Tschopp, Molly K.; Chronister, Julie A.

    2008-01-01

    Applied training of pre-practicum, practicum, and internship are important gateway experiences for rehabilitation counselors-in-training. Counselor educators and supervisors must be aware of requirements and expectations of counselor-in-training supervision and common ethical issues specific to these clinical experiences of rehabilitation…

  12. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    2011-01-01

    ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure espe...

  13. Subjective experiences in psychotic disorders: diagnostic value and clinical correlates.

    Science.gov (United States)

    Peralta, V; Cuesta, M J

    1998-01-01

    This study evaluated the prevalence and clinical correlates of abnormal subjective experiences across functional psychotic disorders. Patients were recruited from consecutive admissions with the following diagnoses; schizophrenia (n = 40), schizophreniform disorder (n = 40), schizoaffective disorder (n = 21), mood disorder (n = 18), brief reactive psychosis (n = 15), and atypical psychosis (n = 16). Subjective experiences were assessed using the Frankfurt Complaint Questionnaire (FCQ), and the clinical status was assessed with the Scales for the Assessment of Positive and Negative Symptoms (SAPS and SANS) and the Manual for the Assessment and Documentation of Psychopathology (AMDP). Neither the FCQ total score nor individual subjective experiences displayed significant differences across diagnoses. When the clinical predictors of subjective experiences were studied by multiple regression analyses, a different pattern resulted for individual psychotic disorders. In schizophrenic patients, subjective experiences were predicted by female gender, euphoria, lack of insight, greater illness severity, and more positive symptoms. The only predictors of subjective experiences in the schizophreniform disorder group were the negative symptoms. Within the affective disorders group, subjective experiences had no clinical predictors.

  14. Experience with Clinically Diagnosed Down Syndrome Children Admitted with Diarrhea in an Urban Hospital in Bangladesh.

    Science.gov (United States)

    Das, Rina; Sarker, Anupam; Saha, Haimanti; Bin Shahid, Abu Sadat Mohammad Sayeem; Shahunja, K M; Chisti, Mohammod Jobayer

    2015-01-01

    There is lack of information in the medical literature on clinically diagnosed Down syndrome children presenting with diarrhea. Our aim was to describe our experience with Down syndrome patients admitted with diarrhea by evaluating the factors associated with Down syndrome presenting with diarrheal illness. In this retrospective chart analysis, we enrolled all the diarrheal children aged 0-59 months admitted to the Dhaka Hospital of the International Centre for Diarrheal Disease Research, Bangladesh (icddr, b), from March 2011 to February 2013. Down syndrome children with diarrhea constituted cases and randomly selected threefold diarrheal children without Down syndrome constituted controls. Among 8422 enrolled children 32 and 96 were the cases and the controls, respectively. Median age (months) of the cases and the controls was comparable (7.6 (4.0, 15.0) versus 9.0 (5.0, 16.8); p = 0.496). The cases more often presented with severe acute malnutrition, developmental delay, congenital heart disease, hypothyroidism, sepsis, hypocalcemia, developed hospital acquired infection (HAI) during hospitalization, and required prolonged stay at hospital compared to the controls (for all p syndrome should be investigated for these simple clinical parameters for their prompt management that may prevent HAI and prolonged hospital stay.

  15. Clinical Needs Finding: Developing the Virtual Experience, A Case Study

    Science.gov (United States)

    Mittal, Vaishali; Thompson, Megan; Altman, Stuart M; Taylor, Peter; Summers, Alexander; Goodwin, Kelsey; Louie, Angelique Y

    2013-01-01

    We describe an innovative program at the University of California, Davis for students to engage in clinical needs finding. Using a team-based approach, students participated in clinical rotations to observe firsthand the needs of clinicians at the university affiliated medical center. The teams were asked to develop documentary-style videos to capture key experiences that would allow future viewers to use the videos as “virtual” clinical rotations. This was conceived as a strategy to allow students in prohibitively large classes, or students in programs at institutions without associated medical or veterinary school programs, to experience clinical rotations and perform needs assessments. The students' perspectives on the experience as well as instructor analysis of best practices for this type of activity are presented and discussed. We found that the internship experience was valuable to the students participating, by not only introducing the practice of needs finding but for increasing the students' confidence in the practice of engineering design and their ability to work independently. The videos produced were of such high quality that instructors from other institutions have requested copies for instructional use. Virtual clinical rotations through video experiences may provide a reasonable substitute for students who do not have the ability to participate in rotations in person. PMID:23483373

  16. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  17. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  18. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  19. [Congenital ranula].

    Science.gov (United States)

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  20. Pre-clinical medical student experience in a pediatric pulmonary clinic

    Directory of Open Access Journals (Sweden)

    Thomas G. Saba

    2015-11-01

    Full Text Available Objective: Our objective was to evaluate the educational value of introducing pre-clinical medical students to pediatric patients and their families in a subspecialty clinic setting. Methods: First- and second-year medical students at the University of Michigan seeking clinical experience outside of the classroom attended an outpatient pediatric pulmonary clinic. Evaluation of the experience consisted of pre- and post-clinic student surveys and post-clinic parent surveys with statements employing a four-point Likert scale as well as open-ended questions. Results: Twenty-eight first-year students, 6 second-year students, and 33 parents participated in the study. Post-clinic statement scores significantly increased for statements addressing empathic attitudes, confidence communicating with children and families, comfort in the clinical environment, and social awareness. Scores did not change for statements addressing motivation, a sense of team membership, or confidence with career goals. Students achieved their goals of gaining experience interacting with patients, learning about pulmonary diseases, and observing clinic workflow. Parents felt that they contributed to student education and were not inconvenienced. Conclusions: Students identified several educational benefits of exposure to a single pediatric pulmonary clinic. Patients and families were not inconvenienced by the participation of a student. Additional studies are warranted to further investigate the value of this model of pre-clinical medical student exposure to subspecialty pediatrics.

  1. Clinical importance of congenital anomalies of the inferior vena cava in organ procurement surgery from a deceased donor: two case reports.

    Science.gov (United States)

    Kim, Mi-Hyeong; Jun, Kang-Woong; Moon, In-Sung; Kim, Ji-Il

    2016-11-01

    Congenital anomalies of the inferior vena cava (IVC) are rare but important problems in living donors for kidney transplantation, especially in cases of a short left renal vein and accompanying vascular and urological anatomic variations. However, the clinical impacts of IVC anomalies in deceased donors have yet to be reported. The unexpected presence of an IVC in an unusual position poses challenges to surgeons and increases the risk of bleeding during organ removal. Accompanying vascular variations can cause unexpected bleeding and injury and therefore technical complications in procurement and subsequent implantation. During cold perfusion, inadequate venous drainage or insufficient cooling can induce graft damage. Our cases highlight the need for all transplant surgeons to confirm the anatomy of the aorta, IVC, and major vessels early in the surgical procedure and, should an anomaly be detected, know how to manage the problem.

  2. COMPARISON OF COUPLES REFERRED AND NOT REFERRED FOR GENETIC-COUNSELING IN A GENETIC CLINIC AFTER THE BIRTH OF A CHILD WITH A CONGENITAL ANOMALY - A STUDY IN A POPULATION IN THE NORTHEASTERN NETHERLANDS

    NARCIS (Netherlands)

    CORNEL, MC; VANESSEN, AJ; TENKATE, LP

    1992-01-01

    After the birth of a child with a congenital anomaly, parents have many questions about cause, prognosis, and recurrence risk. An important means of transmitting such information is referral to a genetic clinic. We were interested in knowing what determines whether or not parents are referred for ge

  3. Integrating research, clinical practice and translation: the Singapore experience.

    Science.gov (United States)

    Liu, Jiang; Wong, Damon Wing Kee; Zhang, Zhuo; Lee, Beng-Hai; Gao, Xinting; Yin, Fengshou; Zhang, Jielin; Htoo, Min Thet

    2013-01-01

    We introduce the experiences of the Singapore ocular imaging team, iMED, in integrating image processing and computer-aided diagnosis research with clinical practice and knowledge, towards the development of ocular image processing technologies for clinical usage with potential impact. In this paper, we outline key areas of research with their corresponding image modalities, as well as providing a systematic introduction of the datasets used for validation.

  4. Community based clinical program: the Medunsa physiotherapy students` experience

    Directory of Open Access Journals (Sweden)

    N. P. Taukobong

    2004-02-01

    Full Text Available Backgound: The aim of community based clinical training is tproduce graduates who are responsive to the health needs of their communit It is envisaged that upon completion of training graduates would go back an serve their respective communities following exposure to community need Program evaluation should therefore allow students to express the inadequacie and strengths of the program.Aim: To evaluate the community-based clinical program through student's experiences.Methodology: A qualitative research design was used. End of block students reports for both third (8 and fourth (15 year physiotherapy students (n = 23 were used to collect the data. Responses in the reports were grouped into the following categories for purpose of data analysis: feeling about the block, suggestion/s and supervision.Results: The students described the community based clinical program as an unique learning experience which equipped them with the understanding of life within communities. Sixty five percent (65% expressed satisfaction with the supervision given. The main complaints were amounts of paper work involved and clinical workload.Conclusion: The student's experiences indicated that the community-based clinical program within the MEDUNSA physiotherapy department realizes the goal of community-based clinical training as determined by WHO, except for inclusion of some multi-professional approaches and adaptation of the supervision provided.

  5. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

  6. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  7. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  8. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.

    Science.gov (United States)

    Ged, Cécile; Mégarbané, Hala; Chouery, Eliane; Lalanne, Magalie; Mégarbané, André; de Verneuil, Hubert

    2004-09-01

    In a Palestinian family, four siblings were shown to express typical and severe congenital erythropoietic porphyria (CEP). A new mutation of the uroporphyrinogen III synthase (UROS) gene was evidenced by systematic sequencing of the UROS gene: the substitution of serine by proline at the amino acid residue 47 (S47P) was present at the homozygous state in the four patients. The mother was heterozygous, the father was not examined. Surprisingly, in one unaffected sister, UROS activity was markedly deficient and UROS gene analysis showed a homozygous mutant profile. The deleterious role of the mutant S47P protein on UROS activity was demonstrated by prokaryotic expression. This observation is the first report of a healthy status associated with homozygosity for a mutation of UROS gene in a severely affected family. We then draw hypotheses to explain the protective phenotype in the homozygous healthy subject.

  9. Nursing Students' Clinical Experience With Death: A Pilot Study.

    Science.gov (United States)

    Heise, Barbara A; Gilpin, Laura C

    2016-01-01

    Although debriefing in simulation settings is routine in nursing education, debriefing does not routinely take place in clinical settings with nursing students after a patient has died. This pilot study sought to explore nursing students' perceptions of their first experience with the death of a patient. Students reported emotional distress and feelings of inadequacy with regard to communicating with and supporting the family of the dying patient. Only half the students sampled reported debriefing by their clinical instructor or staff. Nurse educators must include debriefing and student support following a patient death in the clinical setting.

  10. Congenital malformations and maternal consumption of benzodiazepines: a case-control study.

    Science.gov (United States)

    Laegreid, L; Olegård, R; Conradi, N; Hagberg, G; Wahlström, J; Abrahamsson, L

    1990-05-01

    This study assessed potential teratogenic properties of benzodiazepine (BZD) intake during early pregnancy. Four neonatal diagnoses of congenital malformations (embryopathy and fetopathy, unspecified; unspecified congenital malformations of the nervous system; cleft palate and cleft lip; congenital malformations of the urinary tract) were selected. The authors' previous clinical experience had shown these diagnoses to be characteristic of infants born to mothers with excessive intake of BZD in early pregnancy. The selected diagnoses were present in 25 of 10,646 liveborn infants (2.3 per 1000) delivered by mothers living in the city of Gothenburg in 1985 and 1986. In 18 of these cases, it was possible to analyse maternal plasma, and eight samples (44 per cent) were found to be BZD-positive. Of 60 controls, two maternal blood samples (3 per cent) were positive for BZD. The difference is highly significant and suggests an association between these congenital malformations and BZD consumed during early gestation.

  11. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  12. Congenital pseudoarthrosis of the clavicle with bifurcation

    Directory of Open Access Journals (Sweden)

    Narender Kumar Magu

    2014-01-01

    Full Text Available Congenital pseudoarthrosis of clavicle is a rare clinical entity. It usually presents as a swelling in the clavicular region at birth or soon after birth. Fitzwilliam′s original description of 60 subtypes of congenital pseudoarthrosis of clavicle have addressed several anatomical variants, e.g. association with cervical rib and abnormally vertical and elevated upper ribs. However, congenital pseudoarthrosis of clavicle associated with bifurcation is an atypical anatomic variant. To the best of our knowledge, this variant has never been mentioned in the literature. In the present report, we have described this subtype of symptomatic congenital pseudoarthrosis of the clavicle with bifurcation and its possible management.

  13. Congenital hypoaldosteronism.

    Science.gov (United States)

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  14. Early clinical experience: do students learn what we expect?

    NARCIS (Netherlands)

    Helmich, E.; Bolhuis, S.; Laan, R.F.J.M.; Koopmans, R.T.C.M.

    2011-01-01

    CONTEXT: Early clinical experience is thought to contribute to the professional development of medical students, but little is known about the kind of learning processes that actually take place. Learning in practice is highly informal and may be difficult to direct by predefined learning outcomes.

  15. Designing Nursing Simulation Clinical Experiences to Promote Critical Inquiry

    Science.gov (United States)

    Beattie, Bev; Koroll, Donna; Price, Susan

    2010-01-01

    The use of high fidelity simulation (HFS) learning opportunities in nursing education has received increased attention in the literature. This article describes the design of a systematic framework used to promote critical inquiry and provide meaningful simulation clinical experiences for second year nursing students. Critical inquiry, as defined…

  16. Clinical study of surgical treatment for congenital esotropia%手术治疗先天性内斜视临床探讨

    Institute of Scientific and Technical Information of China (English)

    雷玉; 于丹; 张弛

    2013-01-01

    目的:探讨先天性内斜视的临床特点、手术时机、手术方法及疗效。方法回顾分析43例施行手术的先天性内斜视病例的治疗结果。结果正位36例,正位率83.72%,欠矫5例,占11.63%,过矫2例,占4.65%,随访2~4年,部分病例经过二次手术,术后进行弱视治疗及双眼单视功能训练,最终获得正位率41例,占93.02%,弱视治愈率92.11%,23.26%病人恢复双眼单视功能。结论先天性内斜视的患者应早期手术治疗,术后弱视治疗及双眼单视功能训练,对远期眼位正位,弱视的治愈及双眼单视功能的重建非常重要。%To study the clinical features of congenital esotropia, operation timing, methods of surgery, and curative effect. Methods Retrospective analysis the outcomes of 43 cases after congenital esotropia treat-ment. Results After the first operations, 36 cases (83.72%) were orthotopic, 5 cases (11.63%) were undercorrected, 2cases (4.64%) were overcorrected respectively. All the patients underwent the follow-up visit for 2 to 5 years. Par-tial patients got the second time surgeries and 41 cases ( 93.02%) gained orthotopia with training of amblyopia and synoptophore. The amblyopia cure rate reached to 92.11% and 23.26% patients regained the binocular vision. Con-clusions Congenital esotropia should be treated with surgery earlerly, postoperative amblyopia and binocular vision training is the key way to cure amblyopia and rebuilt binocular vision .

  17. [Congenital hepatic fibrosis: apropos of 12 cases].

    Science.gov (United States)

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  18. E-health stakeholders experiences with clinical modelling and standardizations.

    Science.gov (United States)

    Gøeg, Kirstine Rosenbeck; Elberg, Pia Britt; Højen, Anne Randorff

    2015-01-01

    Stakeholders in e-health such as governance officials, health IT-implementers and vendors have to co-operate to achieve the goal of a future-proof interoperable e-health infrastructure. Co-operation requires knowledge on the responsibility and competences of stakeholder groups. To increase awareness on clinical modeling and standardization we conducted a workshop for Danish and a few Norwegian e-health stakeholders' and made them discuss their views on different aspects of clinical modeling using a theoretical model as a point of departure. Based on the model, we traced stakeholders' experiences. Our results showed there was a tendency that stakeholders were more familiar with e-health requirements than with design methods, clinical information models and clinical terminology as they are described in the scientific literature. The workshop made it possible for stakeholders to discuss their roles and expectations to each other.

  19. Challenging clinical learning environments: experiences of undergraduate nursing students.

    Science.gov (United States)

    O'Mara, Linda; McDonald, Jane; Gillespie, Mary; Brown, Helen; Miles, Lynn

    2014-03-01

    Clinical learning is an essential component of becoming a nurse. However at times, students report experiencing challenging clinical learning environments (CCLE), raising questions regarding the nature of a challenging clinical learning environment, its impact on students' learning and how students might respond within a CCLE. Using an Interpretive Descriptive study design, researchers held focus groups with 54 students from two Canadian sites, who self-identified as having experienced a CCLE. Students defined a CCLE as affected by relationships in the clinical area and by the context of their learning experiences. CCLE decreased students' learning opportunities and impacted on them as persons. As students determined which relationships were challenging, they tapped other resources and they used strategies to rebuilt, reframe, redirect and/or retreat relative to the specific challenge. Relationships also acted as buffers to unsupportive practice cultures. Implications for practice and research are addressed.

  20. Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

    Science.gov (United States)

    Zilina, Olga; Teek, Rita; Tammur, Pille; Kuuse, Kati; Yakoreva, Maria; Vaidla, Eve; Mölter-Väär, Triin; Reimand, Tiia; Kurg, Ants; Ounap, Katrin

    2014-03-01

    Chromosomal microarray analysis (CMA) is now established as the first-tier cytogenetic diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with developmental delay/intellectual disability (DD/ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). We present our experience with using CMA for postnatal and prenatal diagnosis in Estonian patients during 2009-2012. Since 2011, CMA is on the official service list of the Estonian Health Insurance Fund and is performed as the first-tier cytogenetic test for patients with DD/ID, MCA or ASD. A total of 1191 patients were analyzed, including postnatal (1072 [90%] patients and 59 [5%] family members) and prenatal referrals (60 [5%] fetuses). Abnormal results were reported in 298 (25%) patients, with a total of 351 findings (1-3 per individual): 147 (42%) deletions, 106 (30%) duplications, 89 (25%) long contiguous stretches of homozygosity (LCSH) events (>5 Mb), and nine (3%) aneuploidies. Of all findings, 143 (41%) were defined as pathogenic or likely pathogenic; for another 143 findings (41%), most of which were LCSH, the clinical significance remained unknown, while 61 (18%) reported findings can now be reclassified as benign or likely benign. Clinically relevant findings were detected in 126 (11%) patients. However, the proportion of variants of unknown clinical significance was quite high (41% of all findings). It seems that our ability to detect chromosomal abnormalities has far outpaced our ability to understand their role in disease. Thus, the interpretation of CMA findings remains a rather difficult task requiring a close collaboration between clinicians and cytogeneticists.

  1. Rubrics for clinical evaluation: objectifying the subjective experience.

    Science.gov (United States)

    Isaacson, Julie J; Stacy, Annette S

    2009-03-01

    Rubrics have historically been used in secondary and higher education to evaluate specific assignments or tasks. There is little mention of rubrics in the nursing literature, particularly in the area of clinical evaluation. A strong case can be made for expanding the traditional use of a rubric to include its validity with clinical evaluation. Clinical evaluation remains a challenge, even for seasoned faculty. Faculty and students often interpret clinical course objectives differently. Coupled with this concern is the subjectivity of the evaluation. The use of "novice" clinical faculty, who inevitably struggle with discerning and justifying anything but stellar student performance, further compounds these issues. Rubrics also facilitate the grading experience for faculty and students. Faculty often find themselves making repetitive written comments to students. These comments can be incorporated into the rubric, thus shortening grading time while increasing the quality and quantity of instructor feedback. When clarified in a rubric, course objectives become "real". Student benefits include increased critical thinking and a more realistic approach to self-evaluation. Clinical rubrics can be developed from existing course objectives. Though perhaps tedious in initial development, both faculty and student satisfaction with the clinical evaluation process can be enhanced with the use of rubrics.

  2. Experience of 2 dental clinics registered to ISO 9002.

    Science.gov (United States)

    Casas, Michael J; Kenny, David J; Johnston, Douglas H

    2003-04-01

    This paper describes the 3-year experience of managing 2 hospital-based dental clinics registered to ISO 9002:1994; it also examines the revision of previous quality management standards in 2 separate institutions to prepare for registration under the new ISO 9001:2000 standard. Daily equipment and process checks, combined with internal audits, were the backbone of the quality system at both locations. Corrective and protective actions had been underused, because of the partial duplication produced by 2 different institutionally mandated risk management and incident reporting systems. ISO 9002 registration provided both dental clinics with responsive quality systems, emphasizing patient satisfaction and providing measurable continuous quality improvement.

  3. Clinical and Histopathologic Features of Partially Involuting Congenital Hemangioma%部分消退型先天性血管瘤的临床病理分析

    Institute of Scientific and Technical Information of China (English)

    华晨; 金云波; 陈辉; 马刚; 仇雅璟; 杨希; 龚霞; 周恒花; 林晓曦

    2016-01-01

    Objective To study the clinical characteristics and histopathologic features of partially involuting congenital hemangiomas (PICH). Methods The clinical and histopathologic data of 7 RICH patients were reviewed retrospectively and compared to the non-involuting congenital hemangioma (NICH) and rapidly involuting congenital hemangioma (RICH). Results Two male and five female healthy infants presented with a vascular tumor involving the extremity (n=5) and trunk (n=3) at birth. The mass was round to ovoid in shape, bossed and solid, pink to purple and surrounded by a pale halo. Size of tumor was over 5.0 cm in diameter (greatest dimension) in all patients. All had rapid involution during the first 7 to 48 weeks (mean 28 weeks) of life before stabilizing in size and appearance. The overlying skin was frequently punctuated by coarse telangiectasia and surrounded by a pale halo. Doppler ultrasound imaging demonstrated hypervascular subcutaneous lesions with low-resistance, high-velocity arterial flow. MRI: the T1-weighted magnetic image showed subcutaneous lesions with uniform signal intensity and the T2-weighted magnetic image showed homogeneously increased signal intensity. T1-weighted magnetic image after gadolinium revealed an intense and homogeneous enhancement with well-defined limits. HE staining:the architecture in most specimens was dominated by lobules of capillaries in the dermis and subcutis that were separated by dense fibrous tissue. The lobules were composed of thin-walled capillaries, usually with round lumina in various size. The endothelial cells were moderately plump and had a dark, round, protruding nucleus. The nucleus/cytoplasm ratio increased, but there was no obviously atypical and the mitoses was rarely seen. The "hobnailed" endothelial cells lined the small intralobular vessels were observed in all specimens. Immunostaining for CD31 and CD34 demonstrated strong expression in lobular and extralobular endothelial cells. Endothelial cells were

  4. Nursing preceptors' experiences of two clinical education models.

    Science.gov (United States)

    Mamhidir, Anna-Greta; Kristofferzon, Marja-Leena; Hellström-Hyson, Eva; Persson, Elisabeth; Mårtensson, Gunilla

    2014-08-01

    Preceptors play an important role in the process of developing students' knowledge and skills. There is an ongoing search for the best learning and teaching models in clinical education. Little is known about preceptors' perspectives on different models. The aim of the study was to describe nursing preceptors' experiences of two clinical models of clinical education: peer learning and traditional supervision. A descriptive design and qualitative approach was used. Eighteen preceptors from surgical and medical departments at two hospitals were interviewed, ten representing peer learning (student work in pairs) and eight traditional supervision (one student follows a nurse during a shift). The findings showed that preceptors using peer learning created room for students to assume responsibility for their own learning, challenged students' knowledge by refraining from stepping in and encouraged critical thinking. Using traditional supervision, the preceptors' individual ambitions influenced the preceptorship and their own knowledge was empathized as being important to impart. They demonstrated, observed and gradually relinquished responsibility to the students. The choice of clinical education model is important. Peer learning seemed to create learning environments that integrate clinical and academic skills. Investigation of pedagogical models in clinical education should be of major concern to managers and preceptors.

  5. Diagnostic value and clinical problems of MR imaging in congenital anomalies of the central nervous system, 2. Spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Oi, Shizuo; Urui, Seishiro; Asano, Noboru; Masumura, Michio; Shose, Yoshiteru; Matsumoto, Satoshi

    1987-06-01

    Spina bifida and associated congenital anomalies in the central nervous system were evaluated by means of MRI, and the results compared with those obtained by conventional diagnostic procedures. Using the two-dimensional Fourier transform technique, a three-radiofrequency-pulse sequence (inversion recovery: IR 2100/500; spin-echo: SE 2100/40 or 2100/80) was routinely applied. Compared with X-ray CT, MR proved to be more accurate in the detection of the pathoanatomical relation between the lesion and the spinal cord, or that between the spinal dysraphic state and associated intracranial anomalies. MRI was also superior in the anatomical diagnosis of a spinal lipoma, a tethered cord, syringobulbia, syringomyelia, the Chiari anomaly, and so forth. The most considerable disadvantage of MRI in the diagnosis of the spina bifida is the poor information it provides about the bifid spine itself, but this information may be obtained by the use of conventional diagnostic procedures. Also, a regular-conducting MRI system is still insufficient to demonstrate the precise location of the canda equina nerve roots, especially in relation to a lipoma, although the spin-echo MR myelographic technique was helpful in demarcating the major structures, such as the lipoma and the cord. In syringomyelia and syringobulbia, further invasive study in analyzing the fluid dynamics is needed to determine the proper operative procedure. It was emphasized in this study that MRI is an extremely valuable diagnostic tool also in the diagnosis of spinal dysraphism, especially in the detection of a pathoanatomical structure, but can also be expected to be improved so as to make possible finer anatomical analysis and provide a higher quality of information on the fluid dynamics, at least so as to indicate operative procedures without any invasive methods. (J.P.N.).

  6. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  7. Congenital granular cell epulis.

    Science.gov (United States)

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  8. DNA-abzymes in autoimmune diseases in clinic and experiment

    Directory of Open Access Journals (Sweden)

    T E Naumova

    2003-01-01

    Full Text Available DNA-abzymes enzymes in autoimmune diseases in clinic and experiment T.E. Naumova, O.M. Durova, A.G. Gabibov, Z.S. Alekberova, S. V. Suchkov DNA-hydrolyzing autoantibodies (AAB or DNA-abzymes can be found in autoimmune diseases in clinic and experiment. Technology of serum express screening for presence of DNA abzymes is described. Comparative study of DNA-hydrolising activity in patients with different forms of systemic and organ-specific autoimmune diseases was performed. Blood of clinically healthy donors was usually free of IgG DNA-abzymes. DNA-abzymes were most often revealed in patients with systemic lupus erythematosus (SLE and rheumatoid arthritis (RA less often in patients with organ-specific forms of autoimmune disturbances. The results of the study confirm the hypothesis of autoimmune origin of IgG DNA abzymes and demonstrate the possibility to use them in clinical practice for monitoring to disease activity in SLE and RA.

  9. Clinical decision-making: physicians' preferences and experiences

    Directory of Open Access Journals (Sweden)

    White Martha

    2007-03-01

    Full Text Available Abstract Background Shared decision-making has been advocated; however there are relatively few studies on physician preferences for, and experiences of, different styles of clinical decision-making as most research has focused on patient preferences and experiences. The objectives of this study were to determine 1 physician preferences for different styles of clinical decision-making; 2 styles of clinical decision-making physicians perceive themselves as practicing; and 3 the congruence between preferred and perceived style. In addition we sought to determine physician perceptions of the availability of time in visits, and their role in encouraging patients to look for health information. Methods Cross-sectional survey of a nationally representative sample of U.S. physicians. Results 1,050 (53% response rate physicians responded to the survey. Of these, 780 (75% preferred to share decision-making with their patients, 142 (14% preferred paternalism, and 118 (11% preferred consumerism. 87% of physicians perceived themselves as practicing their preferred style. Physicians who preferred their patients to play an active role in decision-making were more likely to report encouraging patients to look for information, and to report having enough time in visits. Conclusion Physicians tend to perceive themselves as practicing their preferred role in clinical decision-making. The direction of the association cannot be inferred from these data; however, we suggest that interventions aimed at promoting shared decision-making need to target physicians as well as patients.

  10. Low-dose prospective ECG-triggering dual-source CT angiography in infants and children with complex congenital heart disease: first experience

    Energy Technology Data Exchange (ETDEWEB)

    Cheng, Zhaoping; Wang, Ximing; Duan, Yanhua; Wu, Lebin; Wu, Dawei; Chao, Baoting; Liu, Cheng; Xu, Zhuodong [Shandong University, Shandong Medical Imaging Research Institute, Jinan, Shandong (China); Li, Hongxin; Liang, Fei [Shandong Provincial Hospital, Department of Cardiovascular Surgery, Jinan, Shandong (China); Xu, Jian; Chen, Jiuhong [Siemens. Ltd. China, CT Research Collaboration, Beijing (China)

    2010-10-15

    To explore the clinical value of low-dose prospective ECG-triggering dual-source CT (DSCT) angiography in infants and children with complex congenital heart disease (CHD) compared with transthoracic echocardiography (TTE). Thirty-five patients (mean age: 16 months, range: 2 months to 6 years; male 15; mean weight: 12 kg) underwent low-dose prospective ECG-triggering DSCT angiography and TTE. Surgeries were performed in 29 patients, and conventional cardiac angiography (CCA) was performed in 8 patients. The accuracy was calculated based on the surgical and/or CCA findings. The overall imaging quality was evaluated on a five-point scale. A total of 146 separate cardiovascular deformities were confirmed. DSCT missed three atrial septal defects and a patent ductus arteriosus. The accuracy of DSCT angiography and TTE was 97.3% (142/146) and 92.5% (135/146), respectively. Overall test parameters for DSCT angiography and TTE were similar (sensitivity, 97.3% vs 92.5%; specificity, 99.8% vs 99.8%). The average subjective image quality score was 4.3 {+-} 0.7. The mean effective dose was 0.38 {+-} 0.09 mSv. Prospective ECG-triggering DSCT angiography with a very low effective radiation dose allows the accurate diagnosis of anomalies in infants and children with complex CHD compared with TTE. It has great promise to become a commonly used second-line technique for complex CHD. (orig.)

  11. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

    Science.gov (United States)

    Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

    2014-05-01

    Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions.

  12. Correlación clínico-citohistológica de los quistes congénitos cervicales Clinical-cytohistological correlation of cervicofacial congenital cysts

    Directory of Open Access Journals (Sweden)

    L.D. Medina Vega

    2004-02-01

    Full Text Available Objetivo: Determinar la efectividad de los diagnósticos clínico y citológico en los quistes congénitos cervicofaciales. Método: Se realizó un estudio retrospectivo de los pacientes con diagnóstico clínico, citológico y/o histológico de quiste tirogloso, branquial y dermoide, atendidos en el Hospital Universitario «Arnaldo Milián Castro», durante cinco años. Se calculó la sensibilidad, especificidad y seguridad del diagnóstico clínico y la biopsia por aspiración con aguja fina (FNAC para cada quiste. Resultado: La seguridad del diagnóstico clínico fue de 94,1%, 92,2% y 98% para los quistes tirogloso branquial y dermoide respectivamente. Encontramos mayor tendencia al error clínico en los quistes branquiales, donde las confusiones más frecuentes se presentan con linfoadenopatías inflamatorias. La seguridad de la biopsia por aspiración con aguja fina fue de 96,1% y 94,1% para los quistes tirogloso y branquial respectivamente. Conclusiones: El diagnóstico clínico no es suficiente en ocasiones, por lo que es preciso recurrir a medios diagnósticos complementarios, como la biopsia por aspiración con aguja fina; sin embargo esta prueba no es 100% segura.Objective: To determine the effectiveness of clinical and cytological diagnosis in congenital cysts located in head and neck. Method: We were carried out a retrospective study of patients with clinical, cytological or histological diagnosis of thyroglossal, branchial and dermoid cyst, assisted in the University Hospital Arnaldo Milián Castro", during five years. It was calculated the sensibility, specificity and security of the clinical diagnosis and the Fine Needle Aspiration Biopsy for each cyst. Result: The security of the clinical diagnosis it was respectively of 94,1%, 92,2% and 98% for the thyroglossal, branchial and dermoid cysts. We find bigger tendency to the clinical error in branchial cysts, where the most frequent confusions are presented with inflammatory

  13. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  14. Application of optimal design methodologies in clinical pharmacology experiments.

    Science.gov (United States)

    Ogungbenro, Kayode; Dokoumetzidis, Aristides; Aarons, Leon

    2009-01-01

    Pharmacokinetics and pharmacodynamics data are often analysed by mixed-effects modelling techniques (also known as population analysis), which has become a standard tool in the pharmaceutical industries for drug development. The last 10 years has witnessed considerable interest in the application of experimental design theories to population pharmacokinetic and pharmacodynamic experiments. Design of population pharmacokinetic experiments involves selection and a careful balance of a number of design factors. Optimal design theory uses prior information about the model and parameter estimates to optimize a function of the Fisher information matrix to obtain the best combination of the design factors. This paper provides a review of the different approaches that have been described in the literature for optimal design of population pharmacokinetic and pharmacodynamic experiments. It describes options that are available and highlights some of the issues that could be of concern as regards practical application. It also discusses areas of application of optimal design theories in clinical pharmacology experiments. It is expected that as the awareness about the benefits of this approach increases, more people will embrace it and ultimately will lead to more efficient population pharmacokinetic and pharmacodynamic experiments and can also help to reduce both cost and time during drug development.

  15. Exploring nursing students’ experience of peer learning in clinical practice

    Science.gov (United States)

    Ravanipour, Maryam; Bahreini, Masoud; Ravanipour, Masoumeh

    2015-01-01

    Background: Peer learning is an educational process wherein someone of the same age or level of experience level interacts with other students interested in the same topic. There is limited evidence specifically focusing on the practical use of peer learning in Iran. The aim of this study was to explore nursing students’ experiences of peer learning in clinical practice. Materials and Methods: A qualitative content analysis was conducted. Focus groups were used to find the students’ experiences about peerlearning. Twenty-eight baccalaureate nursing students at Bushehr University of Medical Sciences were selected purposively, and were arranged in four groups of seven students each. The focus group interviews were conducted using a semi-structured interview schedule. All interviews were tape-recorded, transcribed verbatim, and analyzed using conventional content analysis method. Results: The analysis identified four themes: Paradoxical dualism, peer exploitation, first learning efficacy, and socialization practice. Gained advantages and perceived disadvantages created paradoxical dualism, and peer exploitation resulted from peer selection and peer training. Conclusion: Nursing students reported general satisfaction concerning peer learning due to much more in-depth learning with little stress than conventional learning methods. Peer learning is a useful method for nursing students for practicing educational leadership and learning the clinical skills before they get a job. PMID:26097860

  16. 小儿先天性心脏病封堵术后的护理体会%Nursing Experience of Children with Congenital Heart Disease after Transcatheter Closure of Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    曾珍; 郭文馨

    2015-01-01

    目的:探讨小儿先天性心脏病封堵术后护理要点。方法回顾性分析我科自2014年1月~2015年5月共50例小儿先天性心脏病封堵术的案例。结果手术成功,术后恢复快,无严重并发症。结论患者年龄小,体重低,护理难度大,规范有效的护理能有效预防并发症的发生,促进术后恢复。%Objective To explore the nursing points of the patients with congenital heart disease in children. Methods A retrospective analysis of 50 cases of congenital heart disease in children from January 2014 to May 2015, a total of cases of congenital heart disease. Results The operation was successful, and the recovery was fast and no serious complication. Conclusion Patients with low age, low weight, dif iculty of nursing, standardized and ef ective nursing can ef ectively prevent the occur ence of complications, promote postoperative recovery.

  17. Congenital Heart Disease in Adults

    Science.gov (United States)

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  18. [The clinical experience with MARS and Prometheus procedures].

    Science.gov (United States)

    Hydzik, Piotr; Gawlikowski, Tomasz; Ciszowski, Krzysztof; Sułlek, Monika

    2007-01-01

    Based on the hypothesis, that extracorporeal removal of endo- and egzogenic substances should be beneficial to the clinical course of the patient in liver failure or poisoned, treatment systems were evaluatedbased on the two concepts: (1) blood dialysis against albumin dialysate--Molecular Adsorbent Recirculating System (MARS), Single Pass Albumin Dialysis (SPAD), Continuous Veno-Venous Haemodiafiltration (CWHDF); (2) selective albumin filtration and adsorption combined with haemodialysis--Fractioned Plasma Separation and Adsorption-Prometheus. We present our own experiences with MARS and Prometheus procedures between 2003-2006 years.

  19. Experience of isolated sleep paralysis in clinical practice in Nigeria.

    Science.gov (United States)

    Ohaeri, J U

    1992-06-01

    The supernatural fears associated with the experience of isolated sleep paralysis in the culture of developing countries is sometimes associated with the evolution of somatic symptoms of psychological origin in patients predisposed to neurotic illness. Patients rarely spontaneously volunteer these fears and doctors pay them scant attention. Illustrative case histories that demonstrate the dynamics of the clinical presentation, as well as the treatment approach, are highlighted. It is hoped that doctors in general medical practice and in psychological medicine in developing countries where belief in supernatural causation of illness is rife will consider these factors in order to provide more effective treatment.

  20. Feasibility of a Team Approach to Complex Congenital Heart Defect Neurodevelopmental Follow-Up: Early Experience of a Combined Cardiology/Neonatal Intensive Care Unit Follow-Up Program.

    Science.gov (United States)

    Chorna, Olena; Baldwin, H Scott; Neumaier, Jamie; Gogliotti, Shirley; Powers, Deborah; Mouvery, Amanda; Bichell, David; Maitre, Nathalie L

    2016-07-01

    Infants with complex congenital heart disease are at high risk for poor neurodevelopmental outcomes. However, implementation of dedicated congenital heart disease follow-up programs presents important infrastructure, personnel, and resource challenges. We present the development, implementation, and retrospective review of 1- and 2-year outcomes of a Complex Congenital Heart Defect Neurodevelopmental Follow-Up program. This program was a synergistic approach between the Pediatric Cardiology, Cardiothoracic Surgery, Pediatric Intensive Care, and Neonatal Intensive Care Unit Follow-Up teams to provide a feasible and responsible utilization of existing infrastructure and personnel, to develop and implement a program dedicated to children with congenital heart disease. Trained developmental testers administered the Ages and Stages Questionnaire-3 over the phone to the parents of all referred children at least once between 6 and 12 months' corrected age. At 18 months' corrected age, all children were scheduled in the Neonatal Intensive-Care Unit Follow-Up Clinic for a visit with standardized neurological exams, Bayley III, multidisciplinary therapy evaluations and continued follow-up. Of the 132 patients identified in the Cardiothoracic Surgery database and at discharge from the hospital, a total number of 106 infants were reviewed. A genetic syndrome was identified in 23.4% of the population. Neuroimaging abnormalities were identified in 21.7% of the cohort with 12.8% having visibly severe insults. As a result, 23 (26.7%) received first-time referrals for early intervention services, 16 (13.8%) received referrals for new services in addition to their existing ones. We concluded that utilization of existing resources in collaboration with established programs can ensure targeted neurodevelopmental follow-up for all children with complex congenital heart disease.

  1. Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly : Report of 14 Novel Mutations and Review of the Literature

    NARCIS (Netherlands)

    Callewaert, Bert L.; Loeys, Bart L.; Ficcadenti, Anna; Vermeer, Sascha; Landgren, Magnus; Kroes, Hester Y.; Yaron, Yuval; Pope, Michael; Foulds, Nicola; Boute, Odile; Galan, Francisco; Kingston, Helen; Van der Aa, Nathalie; Salcedo, Iratxe; Swinkels, Marielle E.; Wallgren-Pettersson, Carina; Gabrielli, Orazio; De Backer, Julie; Coucke, Paul J.; De Paepe, Anne M.

    2009-01-01

    Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate

  2. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

    NARCIS (Netherlands)

    Callewaert, B.L.; Loeys, B.L.; Ficcadenti, A.; Vermeer, S.; Landgren, M.; Kroes, H.Y.; Yaron, Y.; Pope, M.; Foulds, N.; Boute, O.; Galan, F.; Kingston, H.; Aa, N. van der; Salcedo, I.; Swinkels, M.E.; Wallgren-Pettersson, C.; Gabrielli, O.; Backer, J. de; Coucke, P.J.; Paepe, A.M. De

    2009-01-01

    Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate

  3. Clinical Analysis and Treatment of Congenital Spilt-hand Deformity%先天性裂手畸形的临床分型及治疗

    Institute of Scientific and Technical Information of China (English)

    刘宏; 梅海波; 刘昆

    2000-01-01

    @@ 先天性裂手畸形(Congenital Cleft Hand & Congenital Split Hand)也称龙虾爪(Lobster-Claw Hand),其名称很多,是一种少见畸形.有显性遗传性,常常伴有其它部位的肢体畸形.国内报道较少,现将遇到的12例共18只手报告如下:

  4. Congenital heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  5. Congenital platelet function defects

    Science.gov (United States)

    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  6. Running a postmortem service - a business case and clinical experience

    Energy Technology Data Exchange (ETDEWEB)

    Cohen, Marta C.; Whitby, Elspeth; Fink, Michelle A.; Collett, Jacquelene M.; Offiah, Amaka C. [Western Bank, Academic Unit of Child Health, Sheffield Children' s NHS Foundation Trust, University of Sheffield, Sheffield (United Kingdom)

    2015-04-01

    The purpose of the postmortem examination is to offer answers to explain the cause and manner of death. In the case of perinatal, infant and paediatric postmortem examinations, the goal is to identify unsuspected associated features, to describe pathogenic mechanisms and new conditions, and to evaluate the clinical management and diagnosis. Additionally, the postmortem examination is useful to counsel families regarding the probability of recurrence in future pregnancies and to inform family planning. Worldwide the rate of paediatric autopsy examinations has significantly declined during the last few decades. Religious objections to postmortem dissection and organ retention scandals in the United Kingdom provided some of the impetus for a search for non-invasive alternatives to the traditional autopsy; however, until recently, imaging studies remained an adjunct to, rather than a replacement for, the traditional autopsy. In 2012, Sheffield Children's Hospital National Health Service Foundation Trust set up the service provision of minimally invasive fetal, perinatal and neonatal autopsy, while a postmortem imaging service has been running in Melbourne, Australia, since 2008. Here we summarise the essentials of a business case and practical British and Australian experiences in terms of the pathological and radiologic aspects of setting up a minimally invasive clinical service in the United Kingdom and of developing a clinical postmortem imaging service as a complementary tool to the traditional autopsy in Australia. (orig.)

  7. Congenital Myasthenia

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  8. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  9. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia

    2015-01-01

    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  10. Internet in clinical research based on a pilot experience.

    Science.gov (United States)

    López-Carrero, Carmen; Arriaza, Elena; Bolaños, Elena; Ciudad, Antonio; Municio, Marco; Ramos, José; Hesen, Wout

    2005-04-01

    Computing has become an integral part of many disciplines nowadays, turning it into an evermore necessary working tool. Internet provides a fast and easy way to collect scientific data and is becoming a more and more effective and safe way to transmit data. It is also an efficient means for interaction and information sharing within a work group that provides the necessary flexibility. A pilot project was conducted replacing the traditional hardcopy version of the case report form for an electronic one (e-CRF) and with access to Internet within the Naturalistic Randomized Clinical Trial of the Effectiveness of Olanzapine and Risperidone in the Treatment of Schizophrenia. Carrying out this pilot project has given us the opportunity to determine the advantages electronic data collection (EDC) by Internet has to offer both researchers and sponsors. The results have optimized time management, since it is easier to work in real time; data quality is improved, since intermediates are eliminated, and it facilitates communication amongst the different parties involved in the project. The use of this technology requires updated Internet connections and adequate personal computers, since the possibilities offered by the computer system and high-speed connection are critical in conducting the project. Obviously, this may involve a higher initial investment, but the results have revealed to us that these start-up costs are later offset by lowering personnel costs or by decreasing the number of monitoring visits. On the basis of our experience and that of the participating investigators, certain recommendations for future clinical trials using e-CRF can be made. We will go into these recommendations in greater depth throughout this paper. In short, EDC can dramatically improve the clinical trial process, opening the door to new technologies in the world of clinical research, not only for sponsors, but also for clinicians.

  11. A new extra-abdominal channel alternative to the mitrofanoff principle: experimental and preliminary clinical experience

    Directory of Open Access Journals (Sweden)

    Antonio Macedo Jr.

    2009-04-01

    Full Text Available INTRODUCTION: The appendix is the gold-standard channel for the Mitrofanoff principle in pediatric urology, but the search for alternatives is justified considering it may not be available or preferably used for colonic stomas (Malone antegrade continence enema. The aim of this study is to report on technical feasibility of a new approach for creating catheterizable channels in a rabbit model and to present our preliminary clinical experience. MATERIAL AND METHODS: We configured a tube from two rectangular skin flaps 1x4 cm opposite each other in the middle line of the lower inferior abdomen. The channel was anastomosed to the bladder dome with embedding sutures to create a valvular mechanism. The experimental study consisted of 12 rabbits, divided in 4 groups according to the sacrifice schedule at 2, 4, 8 and 12 weeks. At 30th postoperative day, an urodynamic evaluation was performed to record continence of the stoma. A histological analysis of the specimens stained with hematoxylin-eosin, Masson trichrome and Picrosirius red was also done in group 2 (sacrifice at 4 weeks postoperatively. We used this method in 3 patients with congenital non-neurogenic bladder disease presenting with massive residual volumes without compliance deficits. RESULT: The technique proved feasible in all animals, 9 of 12 could be easily catheterized and underwent urodynamic study. No stoma leakage was observed in 7 animals at high bladder pressures (> 50 cm H20 and only 2 animals had some leakage at 40 cm H20. Urodynamics performed through the stoma showed urethral leakage at 20 cm H20, therefore demonstrating the efficacy of the valvular mechanism. Histological analysis confirmed good integration between the tube and the bladder. Mean follow-up of the clinical series (3 patients was 7.2 months. Two patients remained continent up to 4 hours, whereas 1 patient had some leakage after 2 hours. CONCLUSION: We were able to confirm feasibility of a new extra

  12. Isolated congenital heart block in undifferentiated connective tissue disease and in primary Sjögren’s syndrome: a clinical study of 81 pregnancies in 41 patients

    Directory of Open Access Journals (Sweden)

    S. Todesco

    2011-09-01

    Full Text Available Objective: To study the incidence and the features of congenital heart block (CHB in patients with undifferentiated connective tissue disease (UCTD and primary Sjögren’s syndrome (pSS. Methods: We studied 81 pregnancies of 41 women attending the Outpatients’ Clinic of the Rheumatology Unit of University Hospital of Padova from July 1989 to March 2004. Twenty five of these (61% were affected with UCTD and 16 (39% with pSS. Serologic inclusion criteria was anti-Ro/La positivity, assessed by counterimmunoelectrophoresis and ELISA. Results: CHB was found in 2 out of the 46 (4,3% pregnancies followed by our Staff and in 2 out of the 35 (5,7% included in the retrospective part of the study. In 3 cases CHB was a 3rd degree block, causing pregnancy termination in 2. The only 2nd degree block was identified in one patient at the 22nd week of gestation and treated with dexamethasone and plasma-exchange. All of the women were positive to 52 kd and 60 kd Ro autoantibodies. CHB mothers had higher titer antibodies to 52 kd Ro protein than did the mothers with healthy infants (P = 0,026. Electrocardiographic abnormalities at birth were found in 3 out of 29 asymptomatic infants. One presented sinus bradycardia, the second abnormalities of ventricular repolarization, both regressed spontaneously, while the third ventricular extrasystoles which continue even now at 5 months. Conclusion: These results showed that in UCTD and pSS there is a higher incidence of CHB than that reported in Systemic Lupus Erythematosus. Electrocardiographic screening in all infants born to mothers with anti-Ro/La antibodies would seem an important measure to identify those with irreversible heart conduction abnormalities.

  13. General Practitioners’ responses to global climate change - lessons from clinical experience and the clinical method

    Directory of Open Access Journals (Sweden)

    Blashki Grant

    2012-08-01

    Full Text Available Abstract Background Climate change is a global public health problem that will require complex thinking if meaningful and effective solutions are to be achieved. In this conceptual paper we argue that GPs have much to bring to the issue of climate change from their wide-ranging clinical experience and from the principles underpinning their clinical methods. This experience and thinking calls forth particular contributions GPs can and should make to debate and action. Discussion We contend that the privileged experience and GP way of thinking can make valuable contributions when applied to climate change solutions. These include a lifetime of experience, reflection and epistemological application to first doing no harm, managing uncertainty, the ability to make necessary decisions while possessing incomplete information, an appreciation of complex adaptive systems, maintenance of homeostasis, vigilance for unintended consequences, and an appreciation of the importance of transdisciplinarity and interprofessionalism. Summary General practitioners have a long history of public health advocacy and in the case of climate change may bring a way of approaching complex human problems that could be applied to the dilemmas of climate change.

  14. [Ethic review on clinical experiments of medical devices in medical institutions].

    Science.gov (United States)

    Shuai, Wanjun; Chao, Yong; Wang, Ning; Xu, Shining

    2011-07-01

    Clinical experiments are always used to evaluate the safety and validity of medical devices. The experiments have two types of clinical trying and testing. Ethic review must be done by the ethics committee of the medical department with the qualification of clinical research, and the approval must be made before the experiments. In order to ensure the safety and validity of clinical experiments of medical devices in medical institutions, the contents, process and approval criterions of the ethic review were analyzed and discussed.

  15. Implementing security in computer based patient records clinical experiences.

    Science.gov (United States)

    Iversen, K R; Heimly, V; Lundgren, T I

    1995-01-01

    In Norway, organizational changes in hospitals and a stronger focus on patient safety have changed the way of organizing and managing paper based patient records. Hospital-wide patient records tend to replace department based records. Since not only clinicians, but also other non-medical staff have access to the paper records, they also have easy access to all the information which is available on a specific patient; such a system has obvious 'side effects' on privacy and security. Computer based patient records (CPRs) can provide the solution to this apparent paradox if the complex aspects of security, privacy, effectiveness, and user friendliness are focused on jointly from the outset in designing such systems. Clinical experiences in Norway show that it is possible to design patient record systems that provide a very useful tool for clinicians and other health care personnel (HCP) while fully complying with comprehensive security and privacy requirements.

  16. Dabigatran in Secondary Stroke Prevention: Clinical Experience with 106 Patients

    Directory of Open Access Journals (Sweden)

    Alicia DeFelipe-Mimbrera

    2014-01-01

    Full Text Available Introduction. Our aim was to analyze our clinical experience with dabigatran etexilate in secondary stroke prevention. Methods. We retrospectively included patients starting dabigatran etexilate for secondary stroke prevention from March 2010 to December 2012. Efficacy and safety variables were registered. Results. 106 patients were included, median follow-up of 12 months (range 1–31. Fifty-six females (52.8%, mean age 76.4 (range 50–95, SD 9.8, median CHADS2 4 (range 2–6, CHA2DS2-VASc 5 (range 2–9, and HAS-BLED 2 (range 1–5. Indication for dabigatran etexilate was ischemic stroke in 101 patients and acute cerebral hemorrhage (CH due to warfarin in 5 (4.7%. Dabigatran etexilate 110 mg bid was prescribed in 71 cases (67% and 150 mg bid was prescribed in the remaining. Seventeen patients (16% suffered 20 complications during follow-up. Ischemic complications (10 were 6 transient ischemic attacks (TIA, 3 ischemic strokes, and 1 acute coronary syndrome. Hemorrhagic complications (10 were CH (1, gastrointestinal bleeding (6, mild hematuria (2, and mild metrorrhagia (1, leading to dabigatran etexilate discontinuation in 3 patients. Patients with previous CH remained uneventful. Three patients died (pneumonia, congestive heart failure, and acute cholecystitis and 9 were lost during follow-up. Conclusions. Dabigatran etexilate was safe and effective in secondary stroke prevention in clinical practice, including a small number of patients with previous history of CH.

  17. Medical academia clinical experiences of Ward Round Teaching curriculum

    Directory of Open Access Journals (Sweden)

    Fariba Haghani

    2014-01-01

    Full Text Available Background: Medical students spend most of their time in hospital wards and it is necessary to study clinical educational opportunities. This study was aimed to explore faculty members′ experience on Ward Round Teaching content. Methods and Materials: This qualitative study was conducted by purposive sampling with the maximum variation of major clinical departments faculty members in Isfahan University of Medical Sciences (n = 9. Data gathering was based on deep and semi-structured interviews. Data gathering continued till data saturation.Data was analyzed through the Collaizzi method and validated. Strategies to ensure trustworthiness of data (credibility, dependability, conformability, transferability were employed (Guba and Lincoln. Results: Basic codes extracted from the analyzed data were categorized into two main themes and related subthemes, including (1 tangible teachings (analytic intelligence, technical intelligence, legal duties and (2 implied teachings (professionalism, professional discipline, professional difficulties. Conclusion: Ward round teaching is a valuable opportunity for learners to learn not only patient care aspects but also ethical values. By appropriate planning, opportunities can be used to teach capabilities that are expected of general practitioners.

  18. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  19. Traumatic effects of political repression in Chile: a clinical experience.

    Science.gov (United States)

    Cordal, Margarita Díaz

    2005-10-01

    The author examines psychic trauma resulting from human rights violations in Chile. Starting from trauma theories developed by authors such as Ferenczi, Winnicott and Stolorow, she posits the relevance of the subject's emotionally significant environment in the production of the traumatic experience. She describes the characteristics of the therapeutic process on the basis of a clinical case. She emphasizes the need to recognize the damage that may be produced within the reliable link between patient and analyst, pointing out the risk of retraumatization if analysts distance themselves and apply 'technique' rigorously, leaving out their own subjective assessments. Therapists must maintain their focus on the conjunction of the patient's intersubjective context and inner psychic world both when exploring the origin of the trauma and when insight is produced. The author posits repetition in the transference as an attempt at reparation, at finding the expected response from the analyst that will help patients assemble the fragments of their history and achieve, as Winnicott would put it, a feeling of continuity in the experience of being.

  20. 43例新生儿先天性感染TORCH的临床分析%Clinical analysis of 43 congenital TORCH infections in newborns

    Institute of Scientific and Technical Information of China (English)

    孙西锋; 孙肖伟; 常立军; 于亮

    2010-01-01

    目的 对先天性感染TORCH的新生儿进行临床分析.方法 用ELASA法检测血清中TORCH(弓形体、风疹病毒、巨细胞病毒、单纯疱疹病毒)IgM.结果 2004年1月至2008年6月本院新生儿重症监护室共收治1352例,其中43例为TORCH感染,巨细胞病毒感染率为48.8%;风疹病毒感染占32.6%;单纯疱疹病毒感染占18.6%,未发现有弓形体感染者.其临床特点主要为听力异常、高胆红素血症和肝功能异常、神经系统损伤、心肌损伤、血小板减少、先天性心脏病等.结论 新生儿TORCH感染可造成多器官损伤,危害性大,对可疑患儿进行筛查是必要的,预防应从母亲怀孕期开始%Objective To search for the early clinical manifestations as evidences for prevention and treatment TORCH infections in newborns as early as possible. Methods ELASA was performed to screen specific anti-TORCH ( Toxoplasma gondlii, Cystomegalovirus, Rubella virus, Herpes simplex virus ) Ig-M antibodies.RESULTS Totally 1352 in-patients who were treated in Neonatal Intemaive Care Unit(NICU) of our hospital from January 2007 to June 2008 were retrospectively studied,43 of them had TORCH infections. Cytomegalovirus, rubella and herpes simples virus infections accounted for 48.8% ,32.6% and 18.6%, respectively. None of them had toxoplasma infection. The main clinical manifestations of them were hearing impairment, hyperbilirubinemias and liver dysfuntion,impairment of neurologic system, myocardial impairment, thrombocytopenia, and congenital heart disease. Conclusion TORCH infections can cause multiorgan lesions. Rubella vaccine inoculation, serological screening during pregnancy and early period of newborn, intervention and treatment in the early period are most important.

  1. Laboratory Diagnosis of Congenital Toxoplasmosis

    OpenAIRE

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age ...

  2. Clinical observation on surgical efficiency of unilateral congenital cataract.%单眼先天性白内障手术的效果

    Institute of Scientific and Technical Information of China (English)

    王圣霞; 陈伟蓉; 邓大明

    2012-01-01

    Objective To observe the clinical effects of unilateral congenital cataract after cataract extraction and primary intraocular lens implantation.Methods 61 consecutive children(2 ~ 12 years old)of unilateral congenital cataract were operated and followed-up for 12 to 56 months,meanly(42.7 ± 10.5)months.Best corrected visual acuity(BCVA),presence of stereopsis,amblyopia and other complications were recorded.Results BCVA was 0.5 or better in 18 eyes(29.5 %)and good binocular function(≤100")was achieved in 11 children(18.0%).The extent of cataract,absence of strabismus and regular treatment on amblyopia had effect on BCVA(P < 0.05).The restoration of binocular function or not in the patients had statistical difference in BCVA,extent of cataract,absence of strabismus and regular treatment of amblyopia(P < 0.05).Conclusion Multiple factors affect on visual acuity and binocular function such as extent of cataract,absence of strabismus and regular treatment on amblyopia.Binocular function correlated closely with good BCVA..%目的 观察单眼先天性白内障儿童行白内障摘出人工晶状体植入术的效果并探讨其影响因素.方法 2~ 12岁单眼先天性白内障摘出联合Ⅰ期人工晶状体植入术61例(61眼).术后随访12 ~56个月,平均(42.7±10.5)月,记录术前情况及术后最佳矫正视力(BCVA)、双眼视功能、并发症及弱视治疗情况.结果 随访期末18例(29.5%)BCVA≥0.5;11例(18.0%)取得良好立体视(<100″),其中10例BCVA≥0.5.术后视力恢复较好(≥0.5)与较差(<0.5)者,其晶状体浑浊程度、是否合并斜视及有无做弱视治疗方面的差异有统计学意义(P<0.05);术后立体视在BCVA、晶状体浑浊程度、是否合并斜视及有无做弱视治疗方面的差异有统计学意义(P<0.05).结论 患儿术后视力和立体视的恢复与晶状体浑浊程度、眼部并发症、弱视治疗等多种因素有关;双眼视功能的恢复与术后BCVA关系密切.

  3. Embryology of congenital diaphragmatic hernia.

    Science.gov (United States)

    Kluth, D; Keijzer, R; Hertl, M; Tibboel, D

    1996-11-01

    It is still generally believed that the defect in congenital diaphragmatic hernia results from failure of the so-called pleuroperitoneal canals (PPCs) to close at the end of the embryonic period (8th gestational week). Furthermore, it is assumed that gut could enter the thoracic cavity through this defect, causing compression and finally hypoplasia of the lung. However, this sequence of embryological events has never been studied, and many details even of normal diaphragmatic development are still unknown. Using scanning electron microscopy and a new animal model of congenital diaphragmatic hernia (CDH), the nitrofen rat model, the normal embryology of the diaphragm was reinvestigated and, for the first time, the crucial developmental steps of congenital diaphragmatic hernia formation were studied. The basic results were: (1) In normal development, the PPCs are never wide enough to allow herniation of gut loops. (2) The formation of the defect happens in an early embryonic period. (3) The early ingrowth of liver through the defect is of major importance for the formation of CDH. In another set of experiments, the nitrofen rat model of congenital diaphragmatic hernias was used to study the cellular mechanisms involved during epithelial and mesenchymal growth and differentiation in normal and in abnormal lungs. These results, combined with selected culture techniques (eg, branching morphogenesis and epithelio-mesenchymal interaction) probably open new ways to a better understanding of the mechanisms that finally lead to an abnormal lung in CDH.

  4. Diagnosis and treatment of congenital heart defects

    Energy Technology Data Exchange (ETDEWEB)

    Peuster, M.; Beerbaum, P.; Meyer, H. [Ruhr-Universitaet Bochum, Bad Oeyenhausen (Germany). Herz- und Diabeteszentrum NRW

    2004-07-01

    The Clinic for Congenital Heart Defects in Bad Oeynhausen, Germany, specializes in the interdisciplinary care of children and adolescents with congenital heart defects. The available expertise covers all aspects of diagnosis and treatment, as well as clinical research at the highest level. The clinic has a complete array of imaging systems, including a Philips Integris BV5000 Biplane cath lab system, Philips Gyroscan Intera CV MR system, ultrasound and PET systems. The range of available equipment makes it possible to select the most appropriate imaging modality for each situation, with particular reference to the need to minimize the overall radiation exposure. (orig.)

  5. Clinical Value of Fetal Echocardiography in the Detection of Congenital Heart Disease%胎儿心脏超声筛查用于先天性心脏病检测的临床价值

    Institute of Scientific and Technical Information of China (English)

    杜筱帆

    2016-01-01

    目的:探讨在先天性心脏病检测中应用胎儿心脏超声筛查的价值。方法选择2015年1月~12月在我院接受检查的健康孕妇800例作为研究对象,进行产前筛查,得出筛查结果,分析心脏超声筛查的在临床上检测先天性心脏病的价值。结果共筛查出先天性心脏病胎儿3例,发洛氏四联征1例,主动脉弓离段1例,右位主动脉弓+室间隔缺损1例。结论在先天性心脏病检测中,应用胎儿心脏超声筛查能够诊断胎儿心脏的结构、功能,准确性高,并且无创伤。%Objective To evaluate the value of fetal echocardiography screening in the detection of congenital heart disease.Methods 2015 January~December to check the health of our hospital 800 cases of pregnant women as research subjects,prenatal screening,screening results obtained,the analysis of cardiac ultrasound screening to detect clinically congenital value of heart disease.Results Were screened out of three cases of fetal congenital heart disease,hair Rockwell Fallot 1 case,1 case of aortic arch section,right aortic arch+ventricular septal defect in 1 case.Conclusion Congenital heart disease is detected,the application of ultrasound screening to diagnose fetal heart fetal heart structure,function,high accuracy and non-invasive.

  6. Angiographic analysis of congenital mitral stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Soo; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-09-15

    Congenital mitral stenosis may be defined as a development abnormality of the mitral valve leaflets, commissures, interchordal spaces, papillary muscles, annulus or immediate supravalvular area producing obstruction to left ventricular filling. Authors had experience of nine case of congenital mitral stenosis confirmed by two dimensional echocardiography, angiocardiography and surgery in recent 5 years since 1979, and analyzed them with emphasis on the angiographic findings. The results are as follows: 1. Among 9 cases, 6 patients were male and 3 were female. Age distribution was from 4 month to 11 years. 2. The types of congenital mitral stenosis were 1 typical congenital mitral stenosis, 5 cases of parachute mitral valve and 3 cases of supramitral ring. 3. Angiographically typical congenital mitral stenosis showed narrowing of mitral valvular opening, parachute mitral valve displayed single large papillary muscle with narrowing valvular opening and supramitral ring disclosed semilunar shaped filling defect between left atrium and ventricle. 4. Associated cardiac and extracardiac anomalies of congenital mitral stenosis, as frequency wise, were ventricular septal defect, patent ductus arteriosus, coarctation of aorta, supra and subvalvular aortic stenosis, mitral regurgitation and double outlet right ventricle. 5. Cardiac angiography is essential to diagnose congenital mitral stenosis, but the need of two dimensional echocardiography cannot be ignored.

  7. Centralization of a regional clinical microbiology service: The Calgary experience.

    Science.gov (United States)

    Church, D L; Hall, P

    1999-11-01

    Diagnostic laboratory services in Alberta have been dramatically restructured over the past five years. In 1994, Alberta Health embarked on an aggressive laboratory restructuring that cut back approximately 30% of the overall monies previously paid to the laboratory service sector in Calgary. A unique service delivery model consolidated all institutional and community-based diagnostic testing in a company called Calgary Laboratory Services (CLS) in late 1996. CLS was formed by a public/private partnership between the Calgary Regional Health Care Authority (CRHA) and MDS-Kasper Laboratories. By virtue of its customer service base and scope of testing, CLS provides comprehensive regional laboratory services to the entire populace. Regional microbiology services within CLS have been successfully consolidated over the past three years into a centralized high volume laboratory (HVL). Because the HVL is not located in a hospital, rapid response laboratories (RRLs) are operated at each acute care site. Although the initial principle behind the proposed test menus for the RRLs was that only procedures requiring a clinical turnaround time of more than 2 h stay on-site, many other principles had to be used to develop and implement an efficient and clinically relevant RRL model for microbiology. From these guiding principles, a detailed assessment of the needs of each institution and extensive networking with user groups, the functions of the microbiology RRLs were established and a detailed implementation plan drawn up. The experience at CLS with regards to restructuring a regional microbiology service is described herein. A post-hoc analysis provides the pros and cons of directing and operating a regionalized microbiology service.

  8. Clinical experience of baclofen in alcohol dependence: A chart review

    Directory of Open Access Journals (Sweden)

    Abhijit R Rozatkar

    2016-01-01

    Full Text Available Introduction: Craving is recognized as a formidable barrier in the management of patients with alcohol dependence. Among pharmacological agents that have been used in experimental studies for reduction in craving, baclofen appears to have a significant advantage over other agents. Methodology: The study is retrospective chart review of patients (n = 113 who have been treated with baclofen for alcohol dependence in a tertiary hospital of North India. Baseline assessments included sociodemography, motivation, quantity-frequency of alcohol use, and other alcohol-related clinical parameters. Weekly assessments, for a period of 4 weeks, were extracted from records which included dose of baclofen, craving intensity, and alcohol consumption. Results: The study sample was predominantly male, mean age of 41.49 (±9.75 years, most having a family history of substance use (70.97%, and many reporting binge use pattern in last year (49.46%. Baseline assessment revealed 48.7% of the sample was in precontemplation phase for alcohol use and 70% reported severe and persistent craving. This persistent craving was reported by only 15% of the sample by the end of 4 weeks treatment with baclofen (20–40 mg/day. Thirty-four percent of patients reported continued problematic use of alcohol by the end of 4 weeks. Conclusion: Our clinical experience suggests that baclofen reduces craving and alcohol consumption including in those with poor motivation. The drug causes few side effects and does not add to the intoxication effect of alcohol. Considering that baclofen is safe in those with liver cirrhosis and reduces withdrawal symptoms due to alcohol, a controlled trial comparing it with standard treatment is required.

  9. Centralization of a Regional Clinical Microbiology Service: The Calgary Experience

    Directory of Open Access Journals (Sweden)

    Deirdre L Church

    1999-01-01

    Full Text Available Diagnostic laboratory services in Alberta have been dramatically restructured over the past five years. In 1994, Alberta Health embarked on an aggressive laboratory restructuring that cut back approximately 30% of the overall monies previously paid to the laboratory service sector in Calgary. A unique service delivery model consolidated all institutional and community-based diagnostic testing in a company called Calgary Laboratory Services (CLS in late 1996. CLS was formed by a public/private partnership between the Calgary Regional Health Care Authority (CRHA and MDS-Kasper Laboratories. By virtue of its customer service base and scope of testing, CLS provides comprehensive regional laboratory services to the entire populace. Regional microbiology services within CLS have been successfully consolidated over the past three years into a centralized high volume laboratory (HVL. Because the HVL is not located in a hospital, rapid response laboratories (RRLs are operated at each acute care site. Although the initial principle behind the proposed test menus for the RRLs was that only procedures requiring a clinical turnaround time of more than 2 h stay on-site, many other principles had to be used to develop and implement an efficient and clinically relevant RRL model for microbiology. From these guiding principles, a detailed assessment of the needs of each institution and extensive networking with user groups, the functions of the microbiology RRLs were established and a detailed implementation plan drawn up. The experience at CLS with regards to restructuring a regional microbiology service is described herein. A post-hoc analysis provides the pros and cons of directing and operating a regionalized microbiology service.

  10. How Clinical Instructors Can Enhance the Learning Experience of Physical Therapy Students in an Introductory Clinical Placement

    Science.gov (United States)

    Cole, Beverley; Wessel, Jean

    2008-01-01

    Purpose: There is little understanding of how physical therapy students are influenced by clinical instructors (CIs) particularly at the outset of their clinical learning. The purpose of this study was to evaluate physical therapy students' perceptions of their learning experiences during an introductory clinical placement. Methods: Subjects were…

  11. Impact of the International Quality Improvement Collaborative on outcomes after congenital heart surgery: A single center experience in a developing economy

    Directory of Open Access Journals (Sweden)

    Rakhi Balachandran

    2015-01-01

    Full Text Available Background: The International Quality Improvement Collaborative (IQIC for Congenital Heart Surgery in Developing Countries was initiated to decrease mortality and major complications after congenital heart surgery in the developing world. Objective: We sought to assess the impact of IQIC on postoperative outcomes after congenital heart surgery at our institution. Methods: The key components of the IQIC program included creation of a robust worldwide database on key outcome measures and nurse education on quality driven best practices using telemedicine platforms. We evaluated 1702 consecutive patients ≤18 years undergoing congenital heart surgery in our institute from January 2010-December 2012 using the IQIC database. Preoperative variables included age, gender, weight at surgery and surgical complexity as per the RACHS-1 model. The outcome variables included, in- hospital mortality, duration of ventilation, intensive care unit (ICU stay, bacterial sepsis and surgical site infection. Results: The 1702 patients included 771(45.3% females. The median age was 8 months (0.03-216 and the median weight was 6.1Kg (1-100. The overall in-hospital mortality was 3.1%, Over the three years there was a significant decline in bacterial sepsis (from 15.1%, to 9.6%, P < 0.001, surgical site infection (11.1% to 2.4%, P < 0.001 and duration of ICU stay from 114(8-999 hours to 72 (18-999 hours (P < 0.001 The decline in mortality from (4.3% to 2.2% did not reach statistical significance. Conclusions: The inclusion of our institution in the IQIC program was associated with improvement in key outcome measures following congenital heart surgery over a three year period.

  12. Neuropathological Changes and Clinical Features of Autism Spectrum Disorder Participants Are Similar to that Reported in Congenital and Chronic Cerebral Toxoplasmosis in Humans and Mice

    Science.gov (United States)

    Prandota, Joseph

    2010-01-01

    Anatomic, histopathologic, and MRI/SPET studies of autistic spectrum disorders (ASD) patients' brains confirm existence of very early developmental deficits. In congenital and chronic murine toxoplasmosis several cerebral anomalies also have been reported, and worldwide, approximately two billion people are chronically infected with T. "gondii"…

  13. Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.

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    Ron M McCullough

    Full Text Available OBJECTIVE: As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT. STUDY DESIGN: The study includes plasma samples collected from patients with high-risk pregnancies in our CLIA-licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting. RESULTS: NIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥ 35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5% with 2.61% yielding a positive NIPT result. CONCLUSION: NIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the

  14. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

    Full Text Available Devi Dayal, Rajendra Prasad Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Abstract: Congenital hypothyroidism (CH, the most common pediatric endocrine disorder with an estimated prevalence of 1:2,000 to 1:4,000, is an under-recognized problem in countries without routine newborn screening (NBS programs. Thyroid dysgenesis (TD is the most common cause of primary CH accounting for approximately 85% of all cases; most of the remaining patients have dyshormonogenesis. Transient CH and CH with eutopic gland, are increasingly being identified after introduction of routine NBS. The clinical features of CH are often subtle resulting in delayed diagnosis and eventually poor intellectual outcome. In developed countries, detection by NBS and early initiation of treatment has largely eliminated the intellectual disability caused by this disorder. The lower screening thyroid stimulating hormone (TSH cutoff and changes in birth demographics in some countries have been associated with an increase in the reported incidence of CH. However, the additional cases detected by the lower TSH cutoff tend to have either milder or transient hypothyroidism. Diagnosis of CH is made on the basis of serum concentrations of TSH and thyroxine (T4. Thyroid ultrasound, radionuclide scintigraphy, serum thyroglobulin (TG levels and specific genetic tests help ascertaining the exact etiological diagnosis. Non-availability of later tests should not deter the pediatrician from initiation of treatment. Age at initiation of treatment and starting dose of levothyroxine are critical factors that determine the long-term outcome. Higher doses of levothyroxine at 10–15 µg/kg/day are required in infants, with titration based on T4 and TSH levels, which are repeated frequently. Coexistence of other congenital anomalies in children with CH adds to the morbidity. Approximately 70% of babies

  15. Radiochemotherapy of malignant glioma in adults. Clinical experiences

    Energy Technology Data Exchange (ETDEWEB)

    Kortmann, R.D.; Jeremic, B.; Plasswilm, L.; Bamberg, M. [Dept. for Radiation Oncology, Univ. of Tuebingen (Germany); Weller, M. [Dept. of Neurology, Univ. of Tuebingen (Germany)

    2003-04-01

    Background: Standard treatment in patients with malignant glioma consists of surgery and postoperative radiotherapy. A high early recurrence rate, particularly in glioblastoma, has led to the investigation of additional chemotherapy. Material and Methods: Recent results of radiochemotherapy published in the literature were reviewed with respect to outcome in phase II and III trials. Based on these experiences, aspects of future strategies were discussed. Results: 3 decades of intensive research had, unfortunately, little impact on the overall results. While early prospective studies established adjuvant nitrosoureas, particularly BCNU, as suitable adjuvant to surgery and postoperative radiotherapy, further studies largely concentrated on combined chemotherapeutic protocols, mostly procarbazine, CCNU and vincristine (PCV), which was shown to prolong survival in anaplastic astrocytoma. The recent MRC study, however, showed no effect for adjuvant PCV in grade III and IV malignant glioma. Only in high-grade glioma with an oligodendroglial component, additional chemotherapy may be of a decisive benefit. The introduction of newer drugs such as paclitaxel, temozolomide, or gemcitabine demonstrated no decisive advantage. Different modes of application and sequencing of radiotherapy and chemotherapy are presently actively investigated, but failed to substantially improve outcome. Conclusions: Therefore, search for newer and more effective drugs continues, as well as for ''optimal'' administration and sequencing, especially from the standpoint of accompanying acute and late toxicity. Finally, recent endeavors focused on basic research such as angiogenesis, migration and invasion, or induction of cell differentiation, but these strategies are still away from broader clinical investigation. (orig.)

  16. The Use of Harmonic Scalpels in Thyroidectomies: Clinical Experiences

    Science.gov (United States)

    Basoglu, Mahmut; Ozturk, Gurkan; Atamanalp, S. Selcuk; Aydinli, Bulent; Yildirgan, M. Ilhan; Oren, Durkaya

    2008-01-01

    Objective: Many studies have been conducted to investigate the efficacy of harmonic scalpels in thyroidectomies. Here, we present our clinical experiences with the instrument. Materials and Methods: The study was conducted at the General Surgery Department of the Ataturk University School of Medicine between January 2005 and July 2008. It was a prospective, randomized, controlled study. Patients with benign nodular goiter (BNG) were included in the study and randomly divided into three groups. The first group consisted of 47 patients, the second group consisted of 57 patients, and the third group consisted of 41 patients. Patients in the first group underwent the classical thyroidectomy. Those in the second group had only the superior thyroid arteries and veins ligated (with silk or polyglactin), while the other vascular structures were divided using a harmonic scalpel. In the third group, all arteries and veins of the thyroid gland were divided using a harmonic scalpel. In each group, mean operation time, amount of bleeding, amount of postoperative drainage, and other postoperative complications were recorded. Results: Operation time was significantly lower for patients in the third group. The degree of bleeding and postoperative drainage was lower in the second and third groups with respect to the first group. There was no significant difference among the groups in terms of the development of transient hypocalcemia or voice impairment. Conclusion: We conclude that the use of harmonic scalpels for a thyroidectomy is safe, shortens operative time, and decreases intraoperative bleeding. PMID:25610032

  17. Radiofrequency Ablation Treatment for Renal Cell Carcinoma: Early Clinical Experience

    Energy Technology Data Exchange (ETDEWEB)

    Park, Seong Hoon; Yoon, Seong Kuk; Cho, Jin Han; Oh, Jong Young; Nam, Kyung Jin; Kwon, Hee Jin; Kim, Su Yeon; Kang, Myong Jin; Choi, Sun Seob; Sung, Gyung Tak [Dong-A University College of Medicine, Busan (Korea, Republic of)

    2008-08-15

    To evaluate the early clinical experience associated with radiofrequency (RF) ablation in patients with renal cell carcinoma (RCC). The RF ablation treatment was performed on 17 tumors from 16 patients (mean age, 60.5 years; range, 43 73 years) with RCC. The treatment indications were localized, solid renal mass, comorbidities, high operation risk, and refusal to perform surgery. All tumors were treated by a percutaneous CT (n = 10), followed by an US-guided (n = 2), laparoscopy-assisted US (n = 2), and an open (n = 2) RF ablation. Furthermore, patients underwent a follow- up CT at one day, one week, one month, three and six months, and then every six months from the onset of treatment. We evaluated the technical success, technical effectiveness, ablation zone, benign periablation enhancement, irregular peripheral enhancement, and complications. All 17 exophytic tumors (mean size, 2.2 cm; range, 1.1 5.0 cm) were completely ablated. Technical success and effectiveness was achieved in all cases and the mean follow-up period was 23.8 months (range, 17 33 months). A local recurrence was not detected in any of the cases; however, five patients developed complications as a result of treatment, including hematuria (n = 2), mild thermal injury of the psoas muscle (n = 1), mild hydronephrosis (n = 1), and fistula formation (n = 1). The RF ablation is an alternative treatment for exophytic RCCs and represents a promising treatment for some patients with small RCCs.

  18. Biological wound dressings sterilized with gamma radiation: Mexican clinical experience

    Science.gov (United States)

    Martínez-Pardo, M. E.; Ley-Chávez, E.; Reyes-Frías, M. L.; Rodríguez-Ferreyra, P.; Vázquez-Maya, L.; Salazar, M. A.

    2007-11-01

    Biological wound dressings sterilized with gamma radiation, such as amnion and pig skin, are a reality in Mexico. These tissues are currently processed in the tissue bank and sterilized in the Gamma Industrial Irradiation Plant; both facilities belong to the Instituto Nacional de Investigaciones Nucleares (ININ) (National Institute of Nuclear Research). With the strong support of the International Atomic Energy Agency, the bank was established at the ININ and the Mexican Ministry of Health issued its sanitary license on July 7, 1999. The Quality Management System of the bank was certified by ISO 9001:2000 on August 1, 2003; the scope of the system is "Research, Development and Processing of Biological Tissues Sterilized with Gamma Radiation". At present, more than 150 patients from 16 hospitals have been successfully treated with these tissues. This paper presents a brief description of the tissue processing, as well as the present Mexican clinical experience with children and adult patients who underwent medical treatment with radiosterilized amnion and pig skin, used as biological wound dressings on burns and ocular surface disorders.

  19. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  20. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  1. Adults with Congenital Heart Defects

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Apr 24,2014 From the Committee on ... below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with Congenital Heart Defects Introduction: ...

  2. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  3. [Radiological evaluation of congenital tumors].

    Science.gov (United States)

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  4. Congenital myotonia in related kittens.

    Science.gov (United States)

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  5. Cultural awareness: Enhancing clinical experiences in rural Appalachia.

    Science.gov (United States)

    Presley, Chaundel

    2013-01-01

    Students often work with clients from a cultural group different than their own. This is especially true for students completing clinical practica in Appalachia, where there is a culture unique to that geographic area. To prepare for this unique setting, common cultural scenarios experienced in the clinical setting must be addressed to help provide culturally appropriate patient care while developing required clinical competencies. Although applicable to most nursing students, the author discusses culturally specific approaches to clinical care of clients from Appalachia, specifically applied to nurse practitioner students, preceptors, and clinical faculty.

  6. Clinical analysis of the second operational resection in 52 cases of congenit preauricular fistula%52例先天性耳前瘘管二次手术治疗体会

    Institute of Scientific and Technical Information of China (English)

    王慧敏; 叶放蕾; 王俊杰; 陈文明

    2014-01-01

    目的:探讨先天性耳前瘘管切除术后复发的原因及再次手术的临床效果。方法:回顾性分析52例先天性耳前瘘管术后再发患者的临床资料,分析引起术后复发的原因,并对二次手术的临床效果进行统计。结果:52例患者中,27例术中可见耳轮脚前方瘘管组织残留,16例可见瘘管组织与耳轮脚软骨粘连,3例沿耳轮脚向上瘘管残余,6例残余瘘管组织伸向外耳道前下壁。50例Ⅰ期痊愈(96.15%)。结论:先天性耳前瘘管切除术后复发的原因主要为瘘管分支走形复杂导致瘘管组织残余、软骨附着等。再次手术彻底切除瘘管组织是治疗先天性耳前瘘管术后复发的有效途径。%Objective:To investigate the causes of postoperative recurrence of congenital preauricu-lar fistula and the clinical effects of the second operational resection .Methods:the clinical data of 52 cases congenital preauricular fistula with postoperative recurrence were retrospectively analyzed . The causes of postoperative recurrence and the clinical effects of the second operational resection were investigated .Results:There are 23 cases with residual fistula organization in front of the crus of helix, 16 cases with residual fistula organization adhered with anthelix cartilage , 3 cases with re-sidual fistula organization above the crus of helix , 6 cases with residual fistula organization toward the anterior-inferior wall of external auditory canal .There were 50 cases with healing by first inten-tion(96.15%).Conclusion:The main causes of postoperative recurrence of congenital preauricu-lar fistula are the complex fistula fistula branch leading to organization residual , cartilage attach-ment and so on.The second operational resection is an effective method for recrudescent congenital preauricular fistula .

  7. Reversibility of ventricular dysfunction: clinical experience in a medical office

    Directory of Open Access Journals (Sweden)

    Antonio Carlos Pereira Barretto

    2001-12-01

    Full Text Available OBJECTIVE - To describe clinical observations of marked improvement in ventricular dysfunction in a medical office environment under circumstances differing from those in study protocols and multicenter studies performed in hospital or with outpatient cohorts. METHODS - Eleven cardiac failure patients with marked ventricular dysfunction receiving treatment at a doctors office between 1994 and 1999 were studied. Their ages ranged from 20 and 66 years (mean 39.42±14.05 years; 7 patients were men, 4 were women. Cardiopathic etiologies were arterial hypertension in 5 patients, peripartum cardiomyopathy in 2, nondefined myocarditis in 2, and alcoholic cardiomyopathy in 4. Initial echocardiograms revealed left ventricular dilatation (average diastolic diameter, 69.45±8.15mm, reduced left ventricular ejection fraction (0.38±0.08 and left atrial dilatation (43.36±5.16mm. The therapeutic approach followed consisted of patient orientation, elimination of etiological or causal factors of cardiac failure, and prescription of digitalis, diuretics, and angiotensinconverting enzyme inhibitors. RESULTS - Following treatment, left ventricular ejection fraction changed to 0.63±0.09; left ventricular diameters changed to 57.18±8.13mm, and left atrium diameters changed to 37.27±8.05mm. Maximum improvement was noted after 16.9±8.63 (6 to 36 months. CONCLUSION - Patients with serious cardiac failure and ventricular dysfunction caused by hypertension, alcoholism, or myocarditis can experience marked improvement in ventricular dysfunction after undergoing appropriate therapy within the venue of the doctor's office.

  8. Three-year experience with the Sophono in children with congenital conductive unilateral hearing loss: tolerability, audiometry, and sound localization compared to a bone-anchored hearing aid.

    Science.gov (United States)

    Nelissen, Rik C; Agterberg, Martijn J H; Hol, Myrthe K S; Snik, Ad F M

    2016-10-01

    Bone conduction devices (BCDs) are advocated as an amplification option for patients with congenital conductive unilateral hearing loss (UHL), while other treatment options could also be considered. The current study compared a transcutaneous BCD (Sophono) with a percutaneous BCD (bone-anchored hearing aid, BAHA) in 12 children with congenital conductive UHL. Tolerability, audiometry, and sound localization abilities with both types of BCD were studied retrospectively. The mean follow-up was 3.6 years for the Sophono users (n = 6) and 4.7 years for the BAHA users (n = 6). In each group, two patients had stopped using their BCD. Tolerability was favorable for the Sophono. Aided thresholds with the Sophono were unsatisfactory, as they did not reach under a mean pure tone average of 30 dB HL. Sound localization generally improved with both the Sophono and the BAHA, although localization abilities did not reach the level of normal hearing children. These findings, together with previously reported outcomes, are important to take into account when counseling patients and their caretakers. The selection of a suitable amplification option should always be made deliberately and on individual basis for each patient in this diverse group of children with congenital conductive UHL.

  9. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  10. Congenital medium sternal cleft with partial ectopia cordis repair.

    Science.gov (United States)

    Sousa, Paulo Rego; Antunes, Sónia; Couto, Alexandra; Santos, Gonçalo Cassiano; Leal, Luis Gagp; Magalhães, Manuel Pedro

    2009-01-01

    Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.

  11. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  12. Impact of Simulation and Clinical Experience on Self-efficacy in Nursing Students: Intervention Study.

    Science.gov (United States)

    Kimhi, Einat; Reishtein, Judith L; Cohen, Miri; Friger, Michael; Hurvitz, Nancy; Avraham, Rinat

    2016-01-01

    This study compared the effect of simulation and clinical experience timing on self-confidence/self-efficacy for the nursing process. Using a randomized, double-crossover design, self-efficacy was measured 3 times. Although self-efficacy was significantly higher at time 1 for students who had clinical experience, there was no difference between the groups at the end of the course (time 2). Thus, simulation increased self-confidence/self-efficacy equivalently if placed either before or after clinical experience.

  13. Congenital diseases of the gastrointestinal tract.

    Science.gov (United States)

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  14. 小儿先天性心脏病268例临床分析%The clinical analysis of 268 cases of congenital heart disease in children

    Institute of Scientific and Technical Information of China (English)

    胡晓波; 张莉

    2012-01-01

      目的探讨小儿先天性心脏病发病因素,为先天性心脏病病因预防和早期诊断提供依据。方法对我科于2008-2011年住院的268例经彩色多普勒超声心动图确诊的先天性心脏病患儿进行回顾性分析。结果母孕期环境中的各种有害因素和遗传等高危因素对先天性心脏病危险性高。结论先天性心脏病是多因素综合作用的结果,避免不良因素的影响对减少先天性心脏病的发病率具有重要意义。彩色多普勒超声心动图对早期筛查诊断有很大优势,但根治却要靠心脏内科介入治疗及心脏外科手术治疗。%  Objective:Research in pathogenic factors of congenital heart disease in children,for the pathogeny of congenital heart disease prevention and early diagnosis.Methods:268 cases of CHD in the ward for sick children between 1991 and 1997 were analyzed. Results:Prenatal environment in various harmful factors and genetic risk factors of congenital heart disease with high risk.Conclusion:Congenital heart disease is resulted from many factors, to avoid the adverse factors to reduce the incidence of congenital heart disease has important Significance.Color Doppler ultrasound heartbeat of early screening and diagnosis have great advantages, but the radical but to rely on cardiac Department of internal medicine interventional therapy and cardiac surgical operation treatment.

  15. Syndromes with congenital brittle bones

    Directory of Open Access Journals (Sweden)

    Plotkin Horacio

    2004-08-01

    Full Text Available Abstract Background There is no clear definition of osteogenesis imperfecta (OI. The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI. Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes, and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not. A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2. Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  16. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects : clinical communication

    Directory of Open Access Journals (Sweden)

    J.H. Williams

    2005-06-01

    broad ligament and the ventral rectal serosa, and the 'prolapsed' tissue was found to be expanded vaginal wall. The bitch was euthanased and necropsied, Histological examination confirmed lymphangiosarcomatous invasion of the submucosal and muscular layers of the retroperitoneal, traumatised, prolapsed part of the vagina, the urethra and the ventral rectal wall. The broad ligament was diffusely invaded with tumour which had proliferated into the caudal abdominal space, and 3 small intra-trabecular foci of tumour were found in the right popliteal lymph node near the hilus. Mitotic figures were generally scarce. There was mild subcutaneous oedema of the ventral trunk extending from the axillae to the inner proximal thighs, which had not been evident clinically, and the lymph nodes (peripheral more so than internal microscopically showed marked trabecular and perivascular fibrosis especially in hilar regions. Other congenital defects were hepatic capsular and central venous fibrosis with lymphatic duplication and dilatation in all areas of connective tissue, ventrally-incongruous half-circular tracheal rings, and multifocal renal dysplasia affecting the right kidney. There was locally-extensive subacute pyelonephritis of the left kidney.

  17. 产前超声筛查胎儿先天性心脏病的临床价值分析%Analysis on clinical value of prenatal ultrasonography in screening of fetal congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    朱胜; 刘武岩; 曹晔

    2011-01-01

    目的 探讨胎儿超声心动图(FECG)产前筛查胎儿先天性心脏病(CHD)的临床应用价值.方法 采用四腔心、左室流出道、右室流出道、三血管切面四切面法,对6 500例孕20 ~41周孕妇进行产前FECG筛查,以引产后尸解或产后新生儿ECG作为对照标准.结果 6 500例胎儿中,检出胎儿心脏异常69例,包括复杂性先天心脏病部分合并心外畸形39例.结论 四切面检查方法简便可靠,是显示胎儿心脏结构及产前筛查胎儿CHD的重要影像诊断方法.%Objective To analyze the clinical application value of fetal echocardiography ( FECC) in screening of fetal congenital heart disease ( CHD). Methods Prenatal fetal echocardiography screening were performed in 6500 pregnant women ( at 20 ~ 41 weeks of gestation) by four chamber view, left ventricular outflow tract, right ventricular outflow tract and three vessels methods. The result of fetus autopsy from induced abortion or neonatal echocardiography was the control criterion. Results In all 6500 fetus, 69 cases of cardiac abnormalities were confirmed by screening, including 39 cases of complex congenital heart diseases, partial cases combined with extracardiac abnormality. Conclusion The four chamber view is a simple and effective method to detect the fetal cardiac structure which has important imaging diagnostic value for prenatal fetal congenital heart disease screening.

  18. TREATMENT OF HYPERTENSION IN PREGNANCY: GUIDELINES AND CLINICAL EXPERIENCE

    Directory of Open Access Journals (Sweden)

    O. V. Gaisenok

    2014-01-01

    Full Text Available Topical issues of the treatment of hypertension in pregnancy are presented. Examples from clinical practice are discussed as well as possible medical treatment of hypertension in pregnant women taking into account actual recommendations.

  19. TREATMENT OF HYPERTENSION IN PREGNANCY: GUIDELINES AND CLINICAL EXPERIENCE

    OpenAIRE

    O. V. Gaisenok; O. A. Zamyatina; N. Yu. Denisova; A. S. Leonov

    2015-01-01

    Topical issues of the treatment of hypertension in pregnancy are presented. Examples from clinical practice are discussed as well as possible medical treatment of hypertension in pregnant women taking into account actual recommendations.

  20. TREATMENT OF HYPERTENSION IN PREGNANCY: GUIDELINES AND CLINICAL EXPERIENCE

    OpenAIRE

    O. V. Gaisenok; O. A. Zamyatina; N. Yu. Denisova; A. S. Leonov

    2014-01-01

    Topical issues of the treatment of hypertension in pregnancy are presented. Examples from clinical practice are discussed as well as possible medical treatment of hypertension in pregnant women taking into account actual recommendations.

  1. Photoacoustic Imaging in Oncology: Translational Preclinical and Early Clinical Experience.

    Science.gov (United States)

    Valluru, Keerthi S; Wilson, Katheryne E; Willmann, Jürgen K

    2016-08-01

    Photoacoustic imaging has evolved into a clinically translatable platform with the potential to complement existing imaging techniques for the management of cancer, including detection, characterization, prognosis, and treatment monitoring. In photoacoustic imaging, tissue is optically excited to produce ultrasonographic images that represent a spatial map of optical absorption of endogenous constituents such as hemoglobin, fat, melanin, and water or exogenous contrast agents such as dyes and nanoparticles. It can therefore provide functional and molecular information that allows noninvasive soft-tissue characterization. Photoacoustic imaging has matured over the years and is currently being translated into the clinic with various clinical studies underway. In this review, the current state of photoacoustic imaging is presented, including techniques and instrumentation, followed by a discussion of potential clinical applications of this technique for the detection and management of cancer. (©) RSNA, 2016.

  2. TREATMENT OF HYPERTENSION IN PREGNANCY: GUIDELINES AND CLINICAL EXPERIENCE

    Directory of Open Access Journals (Sweden)

    O. V. Gaisenok

    2015-09-01

    Full Text Available Topical issues of the treatment of hypertension in pregnancy are presented. Examples from clinical practice are discussed as well as possible medical treatment of hypertension in pregnant women taking into account actual recommendations.

  3. Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

    Directory of Open Access Journals (Sweden)

    Li Guo

    2011-01-01

    Full Text Available Etiology determination of neurodevelopmental disabilities (NDDs currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases including inborn errors of metabolism (IEM and congenital dysmorphic diseases, constituted the commonest etiology category for NDDs in this study. The two key experimental technologies in pediatric metabolomics, gas chromatography-mass spectrometry (GC-MS, and tandem mass spectrometry (MS-MS, proved to be substantially helpful for the exploration of the NDD etiologies in this clinical investigation. The findings in this paper provided latest epidemiologic information on the etiology distribution of NDDs in Chinese, and the syndromic NDDs caused by citrin deficiency and the novel chromosomal karyotype, respectively, further expanded the etiology spectrum of NDDs.

  4. How to Conduct Clinical Qualitative Research on the Patient's Experience

    Science.gov (United States)

    Chenail, Ronald J.

    2011-01-01

    From a perspective of patient-centered healthcare, exploring patients' (a) preconceptions, (b) treatment experiences, (c) quality of life, (d) satisfaction, (e) illness understandings, and (f) design are all critical components in improving primary health care and research. Utilizing qualitative approaches to discover patients' experiences can…

  5. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  6. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

    Full Text Available We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.

  7. Congenital Diaphragmatic Hernia

    Science.gov (United States)

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  8. Congenital short pancreas

    Institute of Scientific and Technical Information of China (English)

    DU Juan; XU Guo-qiang; XU Ping; JIN En-yun; LIU Qiong; LI You-ming

    2007-01-01

    @@ Congenital short pancreas, also known as partial agenesis or hypoplasia of the dorsal pancreas1 is a rare congenital abnormality consisting of the parenchyma and ductal system restricted to the head with some residual dorsal tapering and arborizing ducts communicating with the minor papill.2 Complete pancreatic agenesis is fatal, and only nine possible examples of partial agenesis have been previously reported in adults in the literature.3-10 Three of them were polysplenia syndrome associated with short pancreas,and only six patients with congenital short pancreas with normal situs. Here we present a new case associated with steatorrhoea.

  9. An Enzymatic Clinical Chemistry Laboratory Experiment Incorporating an Introduction to Mathematical Method Comparison Techniques

    Science.gov (United States)

    Duxbury, Mark

    2004-01-01

    An enzymatic laboratory experiment based on the analysis of serum is described that is suitable for students of clinical chemistry. The experiment incorporates an introduction to mathematical method-comparison techniques in which three different clinical glucose analysis methods are compared using linear regression and Bland-Altman difference…

  10. Laboratory Diagnosis of Congenital Toxoplasmosis.

    Science.gov (United States)

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented.

  11. Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study

    Science.gov (United States)

    van der Linden, Vanessa; Brainer-Lima, Alessandra Mertens; Coeli, Regina Ramos; Rocha, Maria Angela; Sobral da Silva, Paula; Durce Costa Gomes de Carvalho, Maria; van der Linden, Ana; Cesario de Holanda, Arthur; Valenca, Marcelo Moraes

    2016-01-01

    Objective To report radiological findings observed in computed tomography (CT) and magnetic resonance imaging (MRI) scans of the first cases of congenital infection and microcephaly presumably associated with the Zika virus in the current Brazilian epidemic. Design Retrospective study with a case series. Setting Association for Assistance of Disabled Children (AACD), Pernambuco state, Brazil. Participants 23 children with a diagnosis of congenital infection presumably associated with the Zika virus during the Brazilian microcephaly epidemic. Main outcome measures Types of abnormalities and the radiological pattern of lesions identified on CT and MRI brain scans. Results Six of the 23 children tested positive for IgM antibodies to Zika virus in cerebrospinal fluid. The other 17 children met the protocol criteria for congenital infection presumably associated with the Zika virus, even without being tested for IgM antibodies to the virus—the test was not yet available on a routine basis. Of the 23 children, 15 underwent CT, seven underwent both CT and MRI, and one underwent MRI. Of the 22 children who underwent CT, all had calcifications in the junction between cortical and subcortical white matter, 21 (95%) had malformations of cortical development, 20 (91%) had a decreased brain volume, 19 (86%) had ventriculomegaly, and 11 (50%) had hypoplasia of the cerebellum or brainstem. Of the eight children who underwent MRI, all had calcifications in the junction between cortical and subcortical white matter, malformations of cortical development occurring predominantly in the frontal lobes, and ventriculomegaly. Seven of the eight (88%) children had enlarged cisterna magna, seven (88%) delayed myelination, and six each (75%) a moderate to severe decrease in brain volume, simplified gyral pattern, and abnormalities of the corpus callosum (38% hypogenesis and 38% hypoplasia). Malformations were symmetrical in 75% of the cases. Conclusion Severe cerebral damage was

  12. Sporotrichosis in childhood: clinical and therapeutic experience in 25 patients.

    Science.gov (United States)

    Bonifaz, Alexandro; Saúl, Amado; Paredes-Solis, Vanessa; Fierro, Leonel; Rosales, Alejandra; Palacios, Carolina; Araiza, Javier

    2007-01-01

    Sporotrichosis in an uncommon mycoses in childhood and is generally associated with injuries received as a consequence of farm work. We undertook a retrospective study of sporotrichosis in children and adolescents seen over a 10-year period, focusing on their clinical, epidemiologic, and mycologic features as well as treatment. We included 25 children with a mean age of 9.3 years. Most of those affected were schoolchildren (84%) from rural areas. The main clinical variety of sporotrichosis seen was the lymphocutaneous form (64%), followed by the fixed cutaneous form (36%), and one instance of the disseminated cutaneous form. Most lesions were located on the upper limbs (40%) and the face (36%). Sporothrix schenckii was isolated in all patients and 24 of 25 had a positive sporotrichin skin test. Nineteen patients were treated and cured clinically and mycologically with potassium iodide, three were cured with itraconazole and one with heat therapy.

  13. Clinical significance of cardiac axis determination in the diagnosis of fetal congenital heart disease%超声心脏轴测定在筛查胎儿先天性心脏病中的临床意义

    Institute of Scientific and Technical Information of China (English)

    王焕侠

    2014-01-01

    Objective To investigate the clinical significance of cardiac axis determined by echocardiography in the diagnosis of fetal congenital heart disease (CHD).Methods 528 high risk fetuses for CHD were examined by echocardiography.Cardiac axis was measured on four chamber view and fetal cardic anatomical structure was examined in multiple views to determine CHD.Re-sults 29 cases of fetal congenital heart disease and 499 cases of normal fetus were detected by four chamber view in 528 cases of congenital heart disease risk in the fetus pure.However,43 cases of fetal congenital heart disease and 485 cases of normal fetus were detected by combination of four Chamber view and cardiac axis determination in 528 cases of congenital heart disease risk in the fetus pure(P <0.01).Finally,46 cases of fetal congenital heart diseas were diagnosed through perinatal autopsy,newborn ultrasound examination or the results after diagnosis.Sensitivity of CHD diag-nosed by four chamber view alone was 63.04%.However,it was elevated to 93.48% by combina-tion of four Chamber view and cardiac axis determination (P <0.05).Conclusion Cardiac axis plays a key role in fetal echocardiographic screening for CHD.%目的:探讨超声心动图测定在胎儿先天性心脏病产前超声诊断中的临床效果。方法采用 LOGIQ 7超声诊断仪检查528例先心病高危胎儿,在心脏超声四腔观基础上测定胎儿心脏轴,并从多切面观察胎儿心内结构,以确定胎儿有无先心病。结果在528例先心病高危胎儿中,单纯四腔观检测有先天性心脏病胎儿29例,正常胎儿499例;而心脏超声四腔观加心脏轴测定共检测有先天性心脏病胎儿43例,正常胎儿485例,差异有统计学意义(P <0.01)。经过引产儿尸体解剖、新生儿超声检查以及随访手术结果确诊后,确诊胎儿先天性心脏病者46例,单纯四腔观检测胎儿先心病的敏感性为63.04%(29/46),应用心

  14. Dr. Lin Zhu's Clinical Experience in Treating Mental Disorders

    Institute of Scientific and Technical Information of China (English)

    Ma Xueqing; Wang Xinzhong

    2005-01-01

    @@ Mental disorders are mainly caused by the emotional factors. Chief physician Lin Zhu, a famous TCM doctor in Beijing, is very good at treating this kind of disorders. The following is a summary of Prof. Lin's experience in this aspect.

  15. Familial occurrence of congenital bile duct dilatation

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Congenital bile duct dilatation (CBD) that developed in a parent and son is presented.Familial occurrence of CBD is rare,with only a few male cases having been reported.Since the initial report of CBD occurring in siblings in 1981,a total of 20 cases (10 pairs) have been published as of 2007.Clinical and genetic features of CBD are discussed.

  16. 超声诊断胎儿先天性心脏病的临床特点分析%Clinical characteristics analysis of ultrasound diagnosis of fetal congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    郭建红

    2014-01-01

    Objective To investigate the application value and characteristics of ultrasound in the diagnosis of congenital heart disease.Methods From April 2010 to April 2013,80 cases of congenital heart disease in the inpatient and outpatient of our hospital underwent prenatal fetal ultrasound were randomly selected.Prenatal echocardiographic and postpartum or induced labor autopsy results were compared.Theapplication value and characteristics of ultrasound in the diagnosis of congenital heart disease was analyzed.Results Forty-six cases (6.39‰) were prenatally diagnosed with congenital cyanotic heart disease,34 cases(4.72 ‰) were diagnosed with non-cyanotic heart disease; 47 cases(6.53‰) were diagnosed with congenital cyanotic heart disease by postnatal ultrasound,60 cases (8.33‰) were diagnosed with non-cyanotic heart disease.For diagnosis of non-cyanotic congenital heart diseases,the postpartum detection rate was higher,the prenatal detection rate and postpartum detection rate had significant difference (P < 0.05).For diagnosis of cyanotic congenital heart diseases,the prenatal detection rate and postpartum detection rate had no significant difference (P > 0.05).Conclusions Ultrasonography is a simple examination that can dynamically observe,non-invasive,non-radiation auxiliary diagnostic measures.In the diagnosis course of fetal congenital heart disease,congenital cyanotic heart disease has higher detection rate by prenatal ultrasound,so it has higher clinical application value.Although the detection rate of non-cyanotic heart disease is low,and the clinical application value is low,but the disease can be cured by surgery postpartum.%目的 探讨超声在胎儿先天性心脏病诊断中的应用价值及其特点.方法 随机选取中牟县人民医院2010年4月至2013年4月住院及门诊进行胎儿产前超声检查,经产后超声或尸检证实患先天性心脏病的患儿80例,将产前超声心动图与产后或引产尸检结果

  17. 四维彩超检查在胎儿先心病诊断中的临床应用%Clinical Application of Four-dimensional Color Doppler Ultrasonography in the Diagnosis of Fetal Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    谢广平; 贾立娟; 杜学谦

    2016-01-01

    ABSTRACT:Objective To analyze the application value of four-dimensional color Doppler ultrasonography in the diagnosis of fetal congenital heart disease, and to provide a reliable reference for clinical practice. Methods The research subjects in this study were 90 cases of fetus,whose gestational age were 25 to 40 weeks. All subjects were examined by four-dimensional color Doppler ultrasound. The results of four-dimensional color Doppler ultrasound examination of these studies subjects were retrospective analyzed,such as fetal heart rate, the four chamber view, the lfow of the chamber, etc..At the same time, the results of follow-up were retrospectively analyzed. The follow-up results and contrast the four-dimensional color Doppler ultrasound examination results were compared.The accuracy of the four-dimensional color Doppler ultrasound examination for diagnosis of fetal congenital heart disease were calculated ,in order to investigate the application value of four-dimensional color Doppler ultrasonography in the diagnosis of fetal congenital heart disease. Results In the study, 6 cases were diagnosed as congenital heart disease by four-dimensional color Doppler ultrasonography. Follow up results showed that 8 cases were eventually diagnosed as congenital heart disease in the study. By comparing the four-dimensional color Doppler ultrasound examination results and follow-up results, the diagnosis rate of four-dimensional color Doppler ultrasound examination was 75%, 1 cases was misdiagnosis, 1 cases was missed diagnosis. Conclusion Prenatal four-dimensional color Doppler ultrasound examination can improve the diagnostic rate of fetal congenital heart disease, and provide a reliable reference for the early intervention of congenital heart disease. Four-dimensional color Doppler ultrasound examination can be widely used in the diagnosis of fetal congenital heart disease, can provide referenc e for the early diagnosis and intervention of congenital heart disease

  18. The ethics of nursing student international clinical experiences.

    Science.gov (United States)

    Levi, Amy

    2009-01-01

    This article explores the motivations for offering international nursing student experiences and the reasons students choose to participate. Students should prepare by learning cultural humility rather than cultural competency, and they should be oriented to the ethical responsibility implicit in caring for those in developing countries. Programs that provide these experiences need to be developed with an eye to sustainability so the lives of those receiving care will be enriched after the students go home.

  19. Current advance in genetics and clinical phenotype of Leber congenital amaurosis%Leber先天性黑矇致病基因及相关临床表型研究进展

    Institute of Scientific and Technical Information of China (English)

    王淑然

    2013-01-01

    Leber congenital amaurosis (LCA) is one of the main inherited retinal diseases causing congenital blindness.LCA is also characterized by genetic heterogeneity and variable clinical phenotypes.Recent years,a lot of molecular genetic studies related with its pathogenesis have been performed.So far,20 causative genes have been identified that account for LCA.Some correlations between genotype and clinical phenotype have also been found.Those specific clinical manifestations may help to identify the mutant gene that causes the LCA.This review summarized the causal genes,their roles in the pathogenesis of LCA,coupled with relationship between specific gene and Corresponding phenotype,which will assist the clinician in patient diagnosis and counseling.%Leber先天性黑矇(LCA)是导致先天性盲的主要遗传性视网膜疾病,具有遗传异质性与临床表型多样性的特点.近年来其分子遗传学研究成为国内外热点,相继明确了20个与LCA相关的致病基因.多项研究表明LCA的基因型和临床表型之间存在关联,了解不同致病基因对应的临床表型特点有助于致病基因的筛查.就当前发现的LCA致病基因、可能的发病机制以及特定基因型与临床表型的关系进行综述,以期有助于临床诊断和咨询.

  20. The drug discovery by nanomedicine and its clinical experience.

    Science.gov (United States)

    Matsumura, Yasuhiro

    2014-06-01

    It is expected that the incidence of various adverse effects of anticancer agents maybe decreased owing to the reduced drug distribution in normal tissue. Anticancer agent incorporating nanoparticles including micelles and liposomes can evade non-specific capture by the reticuloendothelial system because the outer shell of the nanoparticles is covered with polyethylene glycol. Consequently, the micellar and liposomal carrier can be delivered selectively to a tumor by utilizing the enhanced permeability and retention effect. Presently, several anticancer agent-incorporating nano-carrier systems are under preclinical and clinical evaluation. Several drug delivery system formulations have been approved worldwide. Regarding a pipeline of clinical development of anticancer agent incorporating micelle carrier system, several clinical trials are now underway not only in Japan but also in other countries. A Phase 3 trial of NK105, a paclitaxel incorporating micelle is now underway. In this paper, preclinical and clinical studies of NK105, NC-6004, cisplatin incorporating micelle, NC-6300, epirubicin incorporating micelle and the concept of cancer stromal targeting therapy using nanoparticles and monoclonal antibodies against cancer related stromal components are reviewed.

  1. Clinical Experience in TCM Treatment of Chronic Cervicitis

    Institute of Scientific and Technical Information of China (English)

    周宜强; 范宏宇

    2002-01-01

    @@ Chronic cervicitis is a common disease in the female reproductive system, which may be the inducing factor for carcinoma of uterine cervix. It is clinically manifested by sticky and foul leukorrhagia, contact hemorrhage, pain in the lower limbs or lumbosacral region, dysmenorrhea and infertility.

  2. Differences in Clinical Experiences of ADN and BSN Students.

    Science.gov (United States)

    Oermann, Marilyn H.

    1998-01-01

    In a study of 211 associate degree (AD) and 204 baccalaureate nursing students, AD students reported significantly higher stress in clinical practice. Stress for both groups increased as they progressed. Instructors were the predominant source of stress. Students had the most difficulty coping with the demands of patient care and the clinical…

  3. Mechanisms of electrode induced injury. Part 2: Clinical experience.

    Science.gov (United States)

    Patterson, Terry; Stecker, Mark M; Netherton, Brett L

    2007-06-01

    In the previous paper in this series, basic mechanisms of electrode related injuries were discussed. In this paper, the discussion begins with some of the clinical aspects of burns. This is followed by a summary of the clinical literature on injuries produced by surface and subdermal electrodes. This clinical literature demonstrates that most electrode burns are related to the presence of high frequency electric fields (RF) created either by an electrosurgical unit or a magnetic resonance imaging (MRI) scanner. A smaller number of lesions are produced by low current, long duration direct current (DC) stimulation and during high current stimulation such as defibrillation. A discussion of the clinical complications from indwelling intracranial electrodes centers on electrodes placed for deep brain stimulation (DBS) that are currently used therapeutically in a wide array of neurologic disorders. The probability of considering a post-implant MRI scan is high and the safety of such scans is the focus of discussion. A very small number of adverse incidents have indicated a downward revision in the specific absorption rate recommendations for MRI examination with those patients who present with indwelling DBS leads and internal pulse generators. Continued vigilance when any type of electrode is used is important.

  4. Early clinical experience with subcutaneous GR43175 in acute migraine

    DEFF Research Database (Denmark)

    Tfelt-Hansen, P; Brand, J; Dano, P

    1989-01-01

    In six European clinics 111 migraine patients were treated in a series of open dose-ranging studies with subcutaneous injections of 1 to 4 mg GR43175, a novel 5-HT 1-like receptor agonist. Response rates after 20-30 min were dose related and rose from 33% with 1 mg to 96% with 4 mg GR43175. Side ...

  5. 先天性肠闭锁、肠狭窄120例临床分析%Clinical analysis of 120 cases of congenital intestinal atresia and stenosis

    Institute of Scientific and Technical Information of China (English)

    张生; 金先庆; 李晓庆; 周德凯; 向丽; 刘伟

    2011-01-01

    Objective To summary and analyse the clinical features and surgical treatment effect of congenital intestinal atresia and stenosis ,implore the relation of short-bowel syndrome and prognosis , to improve the clinical cure rate. Methods To count and analyse the data of clinical manifestitions,iconography examine,pathologic typing , surgical pattem, cure rate of 120 cases of congenital intestinal atresia and stenosis ,40 cases after follow-up investigation were divided into short-bowel syndrome group( sbs) and non short-bowel syndrome group(nsbs) , the middleweight of normal children with the same age was the control group, compare the sbs group with the nsbs group and the control group by weight. Results 98 cases got the operation,3 cases weredead , the cure rate was 96. g% . The middleweight of the sbs group is not only lower than that of the nsbs group ( P < 0. 05) , but also the control group(P < 0. 05) . Conclusions The surgical treatment effect is satisfied for congenital intestinal atresia and stenosis. Infants wo had short-bowel syndrome got the bad prognosis.%目的 总结先天性肠闭锁、肠狭窄的临床特点及手术治疗效果,探讨短肠综合征与预后的关系,提高临床治愈率.方法 回顾性分析120例先天性肠闭锁、肠狭窄患儿的临床表现、影像学检查、病理分型、手术方式及治愈情况,将随访的40例患儿按照术后保留肠管长度分为短肠组及非短肠组,以同年龄段正常儿童平均体重作为对照,将短肠组体重分别与非短肠组及正常组比较.结果 手术治疗98例,死亡3例,治愈率96.9%;短肠组患儿体重不仅落后于正常组(P<0.05),还明显低于非短肠组(P<0.05).结论 先天性肠闭锁、肠狭窄患儿手术治疗效果满意.短肠综合征患儿术后恢复较差.

  6. Clinical microbiology quality assurance program: a Taiwan experience.

    Science.gov (United States)

    Tsai, W C; Wu, J L; Luh, K T

    1995-05-01

    Quality assurance programs have been established during the last two decades in developed countries to promote high quality performance in clinical laboratories. In Taiwan, such a program for clinical microbiology laboratories has been in place since July 1987. It has been supported by the Department of Health, Executive Yuan, R.O.C. and was set up by the authors. The manpower status, facilities and equipment, and performance of clinical laboratories were investigated during the first year and standards of laboratory quality were recommended. Since then, under a continuing education program, we have conducted seminars, symposia, workshops, short-courses or panel discussions approximately 4 times a year. There have been about 150 participants per session and they have come from local hospitals (primary care hospitals), regional hospitals (secondary care hospitals) and medical centers (tertiary care hospitals). Proficiency test specimens or external unknown specimens were sent to all the laboratories twice a year and approximately 3 specimens were used each time for the evaluation of each laboratory's diagnostic capability and quality of service. Results indicated that there were tremendous improvements in the quality of laboratory performance. At the same time, several laboratory manuals describing the methods of quality control of clinical specimens, test procedures, media and reagents, personnel management and a compilation of reports etc. were published as guidelines of basic requirements for each level of the laboratories. For local hospital laboratories in remote areas, several regional hospitals or medical centers with high quality laboratories were selected to serve as back-ups. Our evaluation has shown that the performance and quality of service provided by most clinical microbiology laboratories in Taiwan have now reached nearly the level of those found in the so-called "developed countries".

  7. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... their genitalia during infancy. Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the ...

  8. Congenital tracheobiliary fistula.

    NARCIS (Netherlands)

    Croes, F.; Nieuwaal, N.H. van; Heijst, A.F.J. van; Enk, G.J. van

    2010-01-01

    Congenital tracheobiliary fistula is a rare malformation that can present with a variety of respiratory symptoms. We present a case of a newborn patient with a tracheobiliary fistula and severe respiratory insufficiency needing extracorporal membrane oxygenation to recover.

  9. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Directory of Open Access Journals (Sweden)

    Julien Guevar

    Full Text Available The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013 to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  10. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Science.gov (United States)

    Guevar, Julien; Penderis, Jacques; Faller, Kiterie; Yeamans, Carmen; Stalin, Catherine; Gutierrez-Quintana, Rodrigo

    2014-01-01

    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  11. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

  12. PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2013-01-01

    Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

  13. Severe congenital cyclic neutropenia: A case report

    Science.gov (United States)

    Patil, Vidyavathi H; Hugar, Shivayogi M; Balikai, Girish; Patil, Sudha

    2016-01-01

    Congenital cyclic neutropenia syndrome is a constitutional genetic disorder which is characterized by very low number of neutrophils (neutropenia). Patients suffering from this disorder clinically present with neutropenia at early age, history of recurrent fever, ulcerations in the oral cavity, gingivitis, and other recurrent infections. This paper describes a case report of a child with recurrent mouth ulcers, fever, and later diagnosed with severe congenital cyclic neutropenia. This also emphasizes the importance of identification of rare causes of immunosuppressive conditions in children presenting with recurrent oral ulcers and poor dental hygiene, to prevent long-term complications of oral cavity and also morbidity and mortality secondary to neutropenic sepsis. PMID:27857902

  14. Juvenile nasopharyngeal angiofibroma: Clinical diagnosis and treatment experience

    Directory of Open Access Journals (Sweden)

    Sladoje Radmila

    2002-01-01

    Full Text Available Juvenile nasopharyngeal angiofibroma is an infrequent epi-pharyngeal tumor necessitating particular diagnostic and therapeutic procedures in comparison to other benign epipharyngeal tumors due to its expansive growth tendency. Our retrospective study is aimed at presenting clinical casuistry of the tumor in order to evaluate modern diagnostic and therapeutic possibilities. The study included 13 male patients, aged 13-24 years, who were hospitalized, diagnostically assessed and surgically treated at the Institute of Otorhinolaryngology and Maxillofacial Surgery, Clinical Centre of Serbia over the period 1990 - June 2001. The following parameters were analyzed: sex, age groups, preoperative symptoms of the disease, diagnostic methods, embolization, local tumor spreading, number and time of tumor relapses and surgical approach.

  15. [Clinical experience of usage of neurostimulator in regionar anesthesia].

    Science.gov (United States)

    Rudenko, M I; Kolobaeva, E G

    2006-09-01

    The elaboration of more reliable and simple methods of transmitted and plexus anestesias has provided a wide clinical usage of regionar anestesia (RA) during the operations on extremities. The creation of devices to identificate (locate) nerval bearer and plexes was also an important factor for increasing quantity of RA. For such identification we use the portable "Innervator 232" neurostimulator manufactured by "Fisher & Paykel Ltd.", New Zealand. Successful conduction of transmitted and plexus anesthesia depends a lot on anesthesiologist's knowledge of anatomy-topography location of nerval bearer and plexes, precise fulfillment of anesthesia, manual capabilities of physician and obtaining a paresthesia or muscular contraction during the identification of nerval bearer with the help of neurostimulator. RA is secure, effective, and provides less risk for a patient. With neurostimulation the amount of successful anesthesias increases up to 98%. The neurostimulator is easy to use, clinically effective in emergency and planned surgeries for identification of nerval bearer and plexes.

  16. Severe ocular sequelae of congenital toxoplasmosis: huge macular scar

    OpenAIRE

    2015-01-01

    Retinochoroiditis is the most common ocular manifestation of congenital toxoplasmosis, but other associated ophthalmological pathologies can also occur. Ophthalmologists are rarely able to distinguish between toxoplasmic retinochoroiditis due to infection acquired before or after birth, unless other clinical or serological indications are present. This article reports a case of a 3-year-old boy with abnormalities suggestive of congenital toxoplasmosis. The clinical and complementary examinati...

  17. Association Between Medicare Summary Star Ratings for Patient Experience and Clinical Outcomes in US Hospitals

    Directory of Open Access Journals (Sweden)

    Stephen Trzeciak MD, MPH

    2016-03-01

    Full Text Available Objective: In 2015, the Centers for Medicare and Medicaid Services (CMS released new summary star ratings for US hospitals based on patient experience. We aimed to test the association between CMS patient experience star ratings and clinical outcomes. Methods: We analyzed risk-adjusted data for more than 3000 US hospitals from CMS Hospital Compare using linear regression. Results: We found that better patient experience was associated with favorable clinical outcomes. Specifically, a higher number of stars for patient experience had a statistically significant association with lower rates of many in-hospital complications. A higher patient experience star rating also had a statistically significant association with lower rates of unplanned readmissions to the hospital within 30 days. Conclusion: Better patient experience according to the CMS star ratings is associated with favorable clinical outcomes. These results support the inclusion of patient experience data in the framework of how hospitals are paid for services.

  18. A Comparison of a Traditional Clinical Experience to a Precepted Clinical Experience for Baccalaureate-Seeking Nursing Students in Their Second Semester

    OpenAIRE

    Kristin Ownby; Renae Schumann; Linda Dune; David Kohne

    2012-01-01

    The shortage of nursing faculty has contributed greatly to the nursing workforce shortage, with many schools turning away qualified applicants because there are not enough faculty to teach. Despite the faculty shortage, schools are required to admit more students to alleviate the nursing shortage. Clinical groups in which preceptors are responsible for student learning extend faculty resources. Purpose. To determine the effectiveness of an alternative clinical experience (preceptorship). Meth...

  19. Students' Experiences of Learning Manual Clinical Skills through Simulation

    Science.gov (United States)

    Johannesson, Eva; Silen, Charlotte; Kvist, Joanna; Hult, Hakan

    2013-01-01

    Learning manual skills is a fundamental part of health care education, and motor, sensory and cognitive learning processes are essential aspects of professional development. Simulator training has been shown to enhance factors that facilitate motor and cognitive learning. The present study aimed to investigate the students' experiences and…

  20. Medical students' emotional development in early clinical experience: a model.

    Science.gov (United States)

    Helmich, Esther; Bolhuis, Sanneke; Laan, Roland; Dornan, Tim; Koopmans, Raymond

    2014-08-01

    Dealing with emotions is a critical feature of professional behaviour. There are no comprehensive theoretical models, however, explaining how medical students learn about emotions. We aimed to explore factors affecting their emotions and how they learn to deal with emotions in themselves and others. During a first-year nursing attachment in hospitals and nursing homes, students wrote daily about their most impressive experiences, explicitly reporting what they felt, thought, and did. In a subsequent interview, they discussed those experiences in greater detail. Following a grounded theory approach, we conducted a constant comparative analysis, collecting and then interpreting data, and allowing the interpretation to inform subsequent data collection. Impressive experiences set up tensions, which gave rise to strong emotions. We identified four 'axes' along which tensions were experienced: 'idealism versus reality', 'critical distance versus adaptation', 'involvement versus detachment' and 'feeling versus displaying'. We found many factors, which influenced how respondents relieved those tensions. Their personal attributes and social relationships both inside and outside the medical community were important ones. Respondents' positions along the different dimensions, as determined by the balance between attributes and tensions, shaped their learning outcomes. Medical students' emotional development occurs through active participation in medical practice and having impressive experiences within relationships with patients and others on wards. Tensions along four dimensions give rise to strong emotions. Gaining insight into the many conditions that influence students' learning about emotions might support educators and supervisors in fostering medical students' emotional and professional development.

  1. Congenital scoliosis: an up-to-date.

    Science.gov (United States)

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, R A; Dughilă, C; Japie, E M; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon.

  2. Clinical spectrum of hypopituitarism in India: A single center experience

    Directory of Open Access Journals (Sweden)

    Abhay Gundgurthi

    2012-01-01

    Full Text Available Objectives: There is paucity of information regarding clinical profile of hypopituitarism from India. We report the clinical profile of hypopituitarism from a tertiary center in North India. Materials and Methods: This study was carried out in patients attending our endocrine center between January 2010 and December 2011. All new patients were studied prospectively and those registered before January 2010 retrospectively. Relevant clinical, hormonal, and imaging data were collected. Dynamic testing for pituitary functions was carried out as necessary. Hormonal deficiencies were defined as per prevailing recommendations. Results: This study included 113 subjects. The mean age was 38.6 ± 17.8 years (range, 4 - 76 years. There were 78 (69% males and 35 females (31%. There were 22 subjects aged ≤18 years (childhood and adolescence and 91 adults (>18 years. Visual disturbances were the most common presenting complaint (33%, though headache was the most common symptom (81%. Fifteen percent presented with pituitary apoplexy. Tumors comprised of 84% of cases. Hypogonadism (97% was the most common abnormality seen followed by hypothyroidism (83.2%, hypoadrenalism (79.6%, growth hormone deficiency (88.1% of the 42 patients tested, and diabetes insipidus (13.3%. Panhypopituitarism was seen in 104 (92% patients. There were no cases of hypopituitarism secondary to traumatic brain injury, subarachnoid hemorrhage, central nervous system infections, or cranial irradiation to extrasellar tumors. Conclusion: The most common cause of hypopituitarism at tertiary care center is pituitary tumors and the commonest presenting complaint is visual symptoms. Panhypopituitarism is present in 92% cases.

  3. Antiarrhythmic treatment with flecainide (Tambocor). Clinical experience from 107 patients

    DEFF Research Database (Denmark)

    Frandsen, F; Pless, P; Mickley, H;

    1990-01-01

    The long-term clinical effect of oral flecainide treatment was evaluated in 107 pts (10-82 yrs). Indications for treatment were: atrial fibrillation 38%, atrial flutter 16%, ventricular tachycardia 24%, ventricular ectopic beats 10% and supraventricular tachycardia 12%. Daily flecainide dosage...... pts due to: insufficient effect in 28, side effects in 17 and for other reasons in 5. The side effects indicating flecainide withdrawal (pts) were: cerebral symptoms (4), gastrointestinal complaints (2), bradyarrhythmias (2), heart failure (3) and suspected pro-arrhythmia (4). (Ventricular tachycardia...

  4. 先天性白癜风73例临床特征分析与治疗总结%Clinical features and therapy of 73 cases of congenital vitiligo

    Institute of Scientific and Technical Information of China (English)

    韦超; 马翠玲; 高天文; 李春英

    2012-01-01

    目的:总结分析先天性白癜风患者的临床特点及治疗方法,比较先天性白癜风与儿童白癜风的异同点.方法:对本院2000年1月~2011年12月诊治的73例先天性白癜风患者的临床资料进行回顾性分析.结果:73例先天性白癜风患者男女比例为0.92:1.神经节段型占15.1%,病情处于进展期者占56.2%,伴发晕痣者3例,有阳性家族史者占21.9%,治疗后好转或稳定者占86.7%.结论:①白癜风并非完全后天发病,出生时即可发生;②日晒可能是一种诱发加重因素;③有阳性家族史者符合多基因遗传规律;④联合治疗有较好的效果.%Objective To investigate the clinical characteristics of congenital vitiligo and find out its effective treatment, compared with a control group of vitiligo in children. Methods The clinical data and therapeutic conditions of 73 patients diagnosed with congenital vitiligo from 2000 to 2011 were retrospectively analyzed. Results 73 cases of congenital vitiligo were evaluated. Males constituted 47.9% (35) of the group and female 52.1%(38). Segmental vitiligo was in 11 (15.1%) patients. Condition in progress was present in 41 (56.2%) patients. Family history of vitiligo was present in 16 (21.9%) patients. Halo nevus was showed in 3 patients. The proportion of patients with improved condition after treatment was 86.7%. Conclusion ①Vitiligo can onset while born, not all acquired. ②Solarization may be an aggressive factor. ③lt is accorded with polygene heredity rule in family vitiligo. ④Combination therapy has good effect.

  5. The clinical symptoms and the surgical effects of the congenital double elevator palsy%先天性双上转肌麻痹的临床表现和手术治疗探讨

    Institute of Scientific and Technical Information of China (English)

    夏博; 汪泽

    2012-01-01

    目的 探讨先天性双上转肌麻痹的临床表现和不同手术方式的疗效.方法 回顾性分析1987年10月~2011年1月收治的先天性双上转肌麻痹的病例.结果 共20例,临床表现和相关检查结果分别为(例/例):弱视:16/20;真、假性、混合性上睑下垂:4、8、1;代偿头位:3/20;合并水平斜视:13/20;同视机检查同时视、融合和立体视:10/20,7/20,4/20;随机点图立体视检查8例仅1例阳性.17例接受下直肌徙后或/和上斜肌鞘内切腱术为主选术式共计25次手术.结论 对视力和双眼视机能损害较重,应尽早手术.分期手术为常规.下直肌徙后或/和上斜肌鞘内切腱联合垂直肌手术疗效满意.%Objective To observe the clinical presentations and effections to surgical treatment of congenital double elevator palsy (DEP). Methods 20 consecutive patients with DEP are retrospectively reviewed from October 1987 to January 2011. Results The clinical feature and examinations (case/case): amblyopes: 13/20; optosis and pseudoblepharoptosis and mixed: 4,8,1; head tilt:3/20; horizontal tropia: 13/10; synoptophore I , II ,111 degree functions: 10/20,7/20,4/20; in the examination of 8 congenital cases,only one have the near distance stereoacuity. The surgical treatment of 17 cases are inferior rectus recession or/and tenectomy of the ipsilateral superior oblique muscle in combination with vertical muscle recession on either one. Conclusions The congenital ocular DEP have the severe damage to the binocular vision, the surgical treamtment should be executed as soon as possible. Inferior rectus recession or/and tenectomy of the ipsilateral superior oblique muscle is executed on paretic eye in combination with vertical muscle recession on either eye have the obvious effection on the DEP.

  6. [Bodily experiences and sexuality in obese women. A clinical study].

    Science.gov (United States)

    Beni, D; Nosari, I; Galeazzi, L; Maglio, M L; Lepore, G; Nava, M; Pagani, G

    1989-01-01

    The aim of the study was to investigate the centralized impulsive dynamics of 21 obese women in comparison with 21 normal ones, with particular reference to the unconscious bodily experiences and sexuality. Two tests comparing areas of unconscious experience and body organs and classes of feelings, and emotional self-assessment questionnaire and a colour choice test, were given. The statistical analysis of the results showed significant differences between the two groups studied, the obese women being immature, dependent, hypersensitive and introverted with great oral requirements and low autonomous control and with some confusion between food and affection. Their sexuality is pervaded with great aggressiveness and has little connection with its maternal and relational function. Finally, some psychotherapeutic strategies are mentioned.

  7. Conducting Family Nursing in Heart Failure outpatient clinics: Nurses experiences

    DEFF Research Database (Denmark)

    Voltelen, Barbara; Konradsen, Hanne; Østergaard, Birte

    2014-01-01

    Aim: This study aimed to explore what was documented during structured Family Nursing (FN) conversations with patients diagnosed with Heart Failure and their families, and to gain knowledge about the nurses’ experiences conducting FN. Background: Patients with HF face many challenges, and so do...... throughout the FN intervention and a Focus group interview with 6 nurses who were conducting the conversations. Content analyses of all text material dealt with both manifest and latent content, and were analyzed through a deductive and inductive process. Results: Enabling bonding emerged as the overall...... theme for the FN conversations, and was made possible through two subthemes; “strengthening family bonds” and “creating an enabling context for FN”. Conducting the FN conversations was challenging due to the use of new communication skills. Optimal setting, experience, retraining and professional...

  8. A Comparison of a Traditional Clinical Experience to a Precepted Clinical Experience for Baccalaureate-Seeking Nursing Students in Their Second Semester

    Directory of Open Access Journals (Sweden)

    Kristin Ownby

    2012-01-01

    Full Text Available The shortage of nursing faculty has contributed greatly to the nursing workforce shortage, with many schools turning away qualified applicants because there are not enough faculty to teach. Despite the faculty shortage, schools are required to admit more students to alleviate the nursing shortage. Clinical groups in which preceptors are responsible for student learning extend faculty resources. Purpose. To determine the effectiveness of an alternative clinical experience (preceptorship. Methods. quasi-experimental, randomized, longitudinal design. Students were randomized to either the traditional or precepted clinical group. The clinical experience was a total of 12 weeks. Groups were compared according to several variables including second semester exam scores, HESI scores, and quality and timeliness of clinical paperwork. Sample. Over a two-year period, seventy-one undergraduate nursing students in the second semester medical-surgical nursing course participated. 36 were randomized to the experimental group. The preceptors were baccalaureate-prepared nurses who have been practicing for at least one year. Setting. Two hospitals located in the Texas Medical Center. Statistical Analysis. Descriptive statistics and independent t-test. Results. There was no difference between the groups on the variables of interest. Conclusion. Students in the precepted clinical group perform as well as those in a traditional clinical group.

  9. A Comparison of a Traditional Clinical Experience to a Precepted Clinical Experience for Baccalaureate-Seeking Nursing Students in Their Second Semester

    Science.gov (United States)

    Ownby, Kristin; Schumann, Renae; Dune, Linda; Kohne, David

    2012-01-01

    The shortage of nursing faculty has contributed greatly to the nursing workforce shortage, with many schools turning away qualified applicants because there are not enough faculty to teach. Despite the faculty shortage, schools are required to admit more students to alleviate the nursing shortage. Clinical groups in which preceptors are responsible for student learning extend faculty resources. Purpose. To determine the effectiveness of an alternative clinical experience (preceptorship). Methods. quasi-experimental, randomized, longitudinal design. Students were randomized to either the traditional or precepted clinical group. The clinical experience was a total of 12 weeks. Groups were compared according to several variables including second semester exam scores, HESI scores, and quality and timeliness of clinical paperwork. Sample. Over a two-year period, seventy-one undergraduate nursing students in the second semester medical-surgical nursing course participated. 36 were randomized to the experimental group. The preceptors were baccalaureate-prepared nurses who have been practicing for at least one year. Setting. Two hospitals located in the Texas Medical Center. Statistical Analysis. Descriptive statistics and independent t-test. Results. There was no difference between the groups on the variables of interest. Conclusion. Students in the precepted clinical group perform as well as those in a traditional clinical group. PMID:22577535

  10. Prenatal diagnosis of congenital complete heart block.

    Science.gov (United States)

    Costa, Patrícia; Carriço, Ana; Ramalho, Carla; Matias, Alexandra; Monterroso, José; Areias, José Carlos

    2007-06-01

    Congenital complete heart block (CHB) is a conduction defect with an incidence in the general population of 1/15,000 to 1/22,000 live births. It is frequently associated with structural heart defects or maternal autoimmune disease. We describe a case of CHB associated with maternal systemic lupus erythematosus and review our previous cases and experience of CHB.

  11. Initial experience with golimumab in clinical practice for ulcerative colitis

    Directory of Open Access Journals (Sweden)

    Luisa Castro-Laria

    Full Text Available Background: Golimumab is a TNF-blocking agent indicated as a second-line therapy in ulcerative colitis. Purpose: To research the effectiveness and safety of golimumab in patients with ulcerative colitis in clinical practice. Methods: Retrospective study of the effectiveness and safety of golimumab in patients with ulcerative colitis. All patients received golimumab 200 mg subcutaneously at week 0, and golimumab 100 mg subcutaneously at week 2. After the induction treatment, each patient received 50 mg sc. every 4 weeks in patients with body weight less than 80 kg, and 100 mg every 4 weeks in patients with body weight greater than or equal to 80 kg. Results: Study of a group of 23 ulcerative colitis patients, 7 of whom were naive to any anti-TNF therapy, and 16 patients who had previously been treated with an anti-TNF agent other than golimumab (non-naive patients. The average treatment time with golimumab was 14.3 weeks. Globally, withdrawal of corticosteroids was observed in 74% of cases. Clinical response was observed in 85.5% of patients who had not received biological treatment previously, and in patients who had previously received biological treatment the response rate was 75%. Conclusions: In this short study, golimumab seems to be an alternative treatment in naive and non-naive anti-TNF ulcerative colitis patients. It is also a safe therapy, given that there were no adverse effects in the patients studied.

  12. Clinical experiences in fungal keratitis caused by Acremonium

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    Kim SJ

    2014-01-01

    Full Text Available Seong-Jae Kim,1,2 Yong-Wun Cho,1 Seong-Wook Seo,1,2 Sun-Joo Kim,2,3 Ji-Myong Yoo1,21Department of Ophthalmology, 2Gyeongsang Institute of Health Science, 3Department of Laboratory Medicine, Gyeongsang National University, College of Medicine, Jinju, KoreaPurpose: To report the predisposing risk factors, clinical presentation, management, and therapeutic outcomes of fungal keratitis caused by Acremonium.Methods: This is a retrospective study of cases with Acremonium fungal keratitis that presented to our tertiary referral center between January 2006 and August 2012. Patient demographic and clinical details were determined and reported.Results: Five cases of fungal keratitis from Acremonium species were identified in five patients (three males, two females. The mean age of the patients was of 73.4±5.46 years, with a mean follow-up time of 124±72 days. All patients had a history of corneal trauma with vegetable matter. Four cases were unresponsive to initial treatment (0.2% fluconazole, 0.15% amphotericin B and required topical 5% natamycin, and, in two out of five cases, topical 1% voriconazole.Conclusion: The most common risk factors for Acremonium fungal keratitis was ocular trauma. When a corneal lesion is found to be unresponsive to the initial treatment, we should consider adding or substituting topical natamycin or voriconazole for treatment.Keywords: Acremonium, fungal keratitis, natamycin, prognosis, voriconazole

  13. Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ineke Nederend

    2016-04-01

    Full Text Available Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.

  14. Multiple congenital epulis in newborn - A rare presentation

    Directory of Open Access Journals (Sweden)

    Sahu Sandeep

    2009-01-01

    Full Text Available A newborn infant with multiple congenital oral swellings can be a striking sight for both parents and healthcare professionals involved in neonatal care. Neumann first described congenital epulis of a newborn in 1871, hence it is also known as Neumann′s tumor. Congenital epulis occurs at birth and has a predilection for females. Congenital epulis clinically appears as a pedunculated protuberant mass. In cases with large lesions, mechanical, oral, and nasal obstruction can impair fetal deglutition or interfering with feeding and / or respiratory impairment. We are reporting a case of a six-day-old, 3.5 kg newborn female, who had reported to our institution with multiple congenital oral swellings arising from the maxilla and mandible.

  15. Clinical application of reconstruction of congenital microtia%先天性小耳畸形外耳再造的临床应用及研究

    Institute of Scientific and Technical Information of China (English)

    曹贵军; 杨佳伟; 刘国实; 张立; 张振文; 赵哲曦; 方鸿满

    2009-01-01

    [目的]探讨先天性小耳畸形手术修复的理想方法.[方法]30例患者,采用皮肤扩张器,行耳后皮肤扩张以提供皮源,以自体肋软骨为耳支架,进行外耳再造.[结果]共30例经8年随访观察,再造耳廓皮瓣颜色、柔软度、感觉功能方面都达到了较好效果,且轮廓清晰,患者基本上都比较满意.[结论]经耳后扩张皮肤后,为耳再造术提供了充足的皮肤,结合自体的肋软骨支架移植,是外耳再造较理想的方法.%[Objective] To explore a good surgical procedure for reconstruction of congenital mierotis. [Methods] A total of 30 cases of ear recoustruetion was performed May 1999 to August 2007 using soft tissue skin expander and autogenous rib cartilage framework. [Results] Eight years follow-up showed that the eolour, softy and sensory function of flap of reconstructed ear were satisfied, and the shape of reconstructed ear was clear. [Conclusions] It was a good method for congenital microtia to use soft tissue skin expander together with autogenous rib cartilage framework at present time.

  16. 产前超声诊断胎儿肺部异常及预后评估%Prenatal Diagnosis of Fetal Congenital Disease of Lung and Clinical Prognosis by Ultrasound

    Institute of Scientific and Technical Information of China (English)

    陆冰; 姜小力; 殷林亮; 邓学东

    2015-01-01

    Objective To describe the antenatalfi ndings and outcome of fetuses with congenital lung disease. MethodsA total of 147 cases of fetal congenital disease of lung were diagnosed and the data was retrospectively analyzed.Results 1. Among the 147 fetuses of congenital lung disease, there were 89 lung lesion; 59 cases of pleural effusion (PE), 4 case of echogenic lung; 1 case of pulmonary hypopasia with ribs malformation and 1 case of pulmonary agenesis (PA); 2. 49 patients with other pulmonary abnormalities, including: fetal edema, lymph hydroma, congenital heart malformation, skeletal deformities, hepatic cyst, heart shift, Bilateral hydronephrosis, single umbilical artery and amnioticfl uid; 3. Fetal outcome: a total of 97 cases of fetus performed induced abortion, 10 cases of disease spontaneous regression before labor, 40 cases of lesions persist and choose to continue pregnancy.ConclusionPrenatal ultrasonography has a high accuracy rate for the diagnosis and classification of fetal congenital lung disease. For different types of pulmonary lesions need to be carefully identifi ed. With detailed observation of the fetus and prenatal follow-up, ultrasonography is helpful to predict the clinical outcome of the fetus.%目的:探讨胎儿肺部异常的产前超声特征及评估临床预后价值。方法对147例产前超声诊断有胎儿肺部异常的胎儿声像图进行回顾性分析。结果①147例肺部异常的胎儿中产前检出89例团块样病变;检出胸腔积液共59例,检出4例肺回声弥漫性增强;1例肺发育不良伴有肋骨畸形;1例肺缺如。②49例伴发其他肺部异常,包括:胎儿水肿、淋巴水囊瘤、心脏畸形、骨骼畸形、肝囊肿、心脏移位、双肾积水、单脐动脉、羊水过多;③胎儿临床结局:147例共有97例胎儿选择引产,10例病变产前自行消退,40例病灶持续存在并选择继续妊娠。结论对于肺部病灶的不同类型诊断需要谨慎鉴别,

  17. Clinical Experience in Acupuncture Treatment of Allergic Rhinitis

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yan-qiu

    2009-01-01

    Objective:To observe the clinical effects of acupuncture for allergic rhinitis.Methods:The body acupuncture, auricular seed-embedding and microwave irradiation were adopted for treatment of allergic rhinitis due to various causative factors, such as cold and insufficiency of the lung-qi weakening the body resistance, insufficiency of the spleen-qi with lucid yang failing to rise, insufficiency of the kidney-yang failing to warm the body surface, and the heat accumulated in the lung channels giving invading the nose.Results:After treatment, the symptoms and signs disappeared in all illustrative cases, with no recurrence found after a one-year follow-up.Conclusion:Acupuncture may help to improve the blood rheology indexes with an increased volume of blood flow, and regulate the immunological function of the human body, thus giving therapeutic effects for allergic rhinitis.

  18. Selecting clinical diagnoses: logical strategies informed by experience.

    Science.gov (United States)

    Stanley, Donald Edward; Campos, Daniel G

    2016-08-01

    This article describes reasoning strategies used by clinicians in different diagnostic circumstances and how these modes of inquiry may allow further insight into the evaluation and treatment of patients. Specifically, it aims to make explicit the implicit logical considerations that guide a variety of strategies in the diagnostic process, as exemplified in specific clinical cases. It focuses, in particular, in strategies that clinicians use to move from a large set of possible diagnoses initially suggested by abductive inferences - the process of hypothesis generation that creates a diagnostic space - to a narrower set or even to a single 'best' diagnosis, where the criteria to determine what is 'best' may differ according to different strategies. Experienced clinicians should have a diversified kit of strategies - for example, Bayesian probability or inference to a lovely explanation - to select from among previously generated hypotheses, rather than rely on any one approach every time.

  19. [Experience in thyroglossal duct pathology: clinical case series].

    Science.gov (United States)

    Cieri, Patricio; Udaquiola, Julia E; Calello, Santiago E; Libero, Daniel H

    2016-10-01

    The thyroglossal duct cyst pathology represents the second cause of bening cervical anomalies in childhood. Diagnosis is mainly clinical. Sistrunk (1920) proposed a surgical technique that is still considered the gold standard for definitive treatment of this condition. A retrospective study was made including patients who underwent surgery for thyroglossal duct cyst pathology in our department between June 2008 and August 2015. In this period, we performed 54 procedures in 45 patients (39 primary cases). Median age was 4.7 years; 14/39 patients (31.1%) had pre-operative infection. All patients were studied with neck ultrasound. A Sistrunk's procedure was performed in all cases. The global recurrence rate was 17.8% (8/45).

  20. Clinical experience of radiation therapy for Graves` ophthalmopathy

    Energy Technology Data Exchange (ETDEWEB)

    Takahashi, Takeo; Mitsuhashi, Norio; Nagashima, Hisako; Sakurai, Hideyuki; Murata, Osamu; Ishizeki, Kei; Shimaya, Sanae; Hayakawa, Kazushige; Niibe, Hideo [Gunma Univ., Maebashi (Japan). School of Medicine

    1996-11-01

    The effect of radiation therapy for Graves` ophthalmopathy was evaluated. Ten patients with Graves` ophthalmopathy were treated with radiation therapy between 1992 and 1993 in Gunma University Hospital. All patients had a past history of hyperthyroidism and received 2,000 cGy to the retrobulbar tissues in 20 fractions. Nine of ten patients were treated with radiation therapy after the failure of corticosteroids. Six patients (60%) showed good or excellent responses. The exophthalmos type was more responsive to radiation therapy than the double vision type in this series. Two of five patients with the exophthalmos type demonstrated excellent responses, and their symptoms disappeared almost completely. The improvement of symptoms appeared within 3-6 months, and obvious clinical effects were demonstrated after 6 months of radiotherapy. Radiation therapy was well tolerated, and we have not observed any side effects of radiation therapy. In conclusion, radiation therapy is effective treatment for Graves` ophthalmopathy. (author)

  1. [Clinical experiences with a gestodene containing oral contraceptive (femoden)].

    Science.gov (United States)

    Gimes, G; Valent, S

    1998-09-01

    In order to reduce the side-effects (blood-lipid alterations, androgen effects etc.) new gestogens were introduced, while the ethinyl-estradiol component of the pill was unchanged. Authors report about clinical trial on monophasic oral contraceptive containing 0.030 mg ethinyl-estradiol and 0.075 mg gestodene. In a follow up of 92 women, in 1740 cycles no pregnancy and no cardivascular or thromboembolic complication was observed. The frequency of bleeding disorders was below 10% already in the first cycle. The quantity of withdrawal bleeding, as well the frequency of breakthrough bleeding and spotting decreased during the treatment. Significant alteration in body weight or blood pressure did not occur. Femoden containing third generation gestogen has an excellent cycle control and good patient compliance.

  2. Experience in the Clinical Application of Naokong (GB19)

    Institute of Scientific and Technical Information of China (English)

    陆汎

    2005-01-01

    @@ Naokong (GB19) is located 1.5 cun above Fengchi (GB20) and at the level with Naohu (GV17) in the depression of the lateral side of the external occipital protuberance. It belongs to the Gallbladder Channel of Foot Shaoyang, and is a crossing point of the Foot Shaoyang Channel and the Yangwei Channel. As is said in A Collection of Gems in Acupuncture and Moxibustion, Naokong (GB19) is indicated for emaciation due to over strain and stress, fever, neck rigidity, unbearable pain in the head, heavy eyes and palpitation as well as xenophthalmia and rhinalgia caused by epileptic seizure in severe cases. In clinical practice, the author has adopted Naokong (GB 19) as the main point in treating some obstinate diseases and obtained quite good therapeutic effects.

  3. The clinical characteristics of congenital heart diseases in patients with Pierre-Robin sequence%皮罗氏序列征伴先天性心脏病的临床特点

    Institute of Scientific and Technical Information of China (English)

    梁慧

    2016-01-01

    目的:探讨皮罗氏序列征伴先天性心脏病的临床特点。方法我院2011年1月—2015年12月共收治141例皮罗氏序列征的患儿,将患儿分成单纯皮罗氏序列征组、皮罗氏序列征伴腭裂组及皮罗氏序列征伴听力损伤组,对3组患儿均行心电图及彩色多普勒超声心动图检查,对检查结果进行分析。结果141例皮罗氏序列征患儿中共检出先天性心脏病19例,总发生率为13.47%,其中单纯皮罗氏序列征组患儿先天性心脏病的发生率为12.82%,伴腭裂组和伴听力损伤组患儿先天性心脏病的发生率分别为13.56%、25%。主要的先天性心脏病为:房间隔缺损(ASD)、室间隔缺损(VSD)、动脉导管未闭(PDA)、肺动脉瓣狭窄(PS)。通过统计学分析,3组患儿先天性心脏病的发生率差异无显著性。结论先天性心脏病在皮罗氏序列征患儿中发生率较高,心电图及彩色多普勒超声心动图检查能清楚准确地诊断各类型的先天性心脏病,可用于皮罗氏序列征患儿常规检查,做出早期诊断、治疗,可以改善患儿的预后。%Objective To explore the clinical characteristics of congenital heart diseases in patients with Pierre-Robin sequence. Methods From January 2011 to December 2015,Guangzhou Women and Children's Medical Center has treated 141 patients with Pierre-Robin sequence. They were divided into 3 groups:Pierre-Robin sequence group,Pierre-Robin sequence and cleft palate group,and Pierre-Robin sequence and hearing impairment group. Electrocardiogram and colour Doppler echocar-diogram was performed in each group and the results were analysed with statistics. Results 19 patients were found to have congenital heart diseases in 141 patients,the occurrence rate was 13.47%. The occurrence rate of congenital heart diseases in the group with Pierre-Robin sequence was 12.82%. The occurrence rate of congenital heart diseases in the group with

  4. [Possibility of uterus transplantation trial in Czech Republic - indications, research and clinical experience].

    Science.gov (United States)

    Chmel, Roman; Nováčková, Marta; Pastor, Zlatko; Matěcha, Jan; Čekal, Miloš; Froněk, Jiří

    2017-01-01

    Uterus transplantation is a novel experimental method of female infertility treatment. It is an appropriate treatment modality for women with absolute uterine factor infertility - congenital uterine malformations, absent uterus, hysterectomized women and non-functional uterus.Successful animal studies confirming the safety and efficacy were performed before introduction of uterus transplantation into human medicine. The first clinical trial was performed in 2012-2013 in Gothenburg, Sweden. The first child from the transplanted womb was delivered in 2014. Concerning the promising results of Swedish trial it is essential to perform trials in some other world centers.In 2015 Czech Ministry of Health permitted uterus transplantation trial in cooperation of two Prague hospitals - namely Institute for Clinical and Experimental Medicine and University Hospital Motol. The aim of the Czech trial is to reassert feasibility, efficacy and safety of uterus transplantation in two groups of women - 10 recipients from living and 10 from deceased brain donor. We believe that detailed and precise long-term theoretic and practical preparation and perfectly arranged trial are the main conditions of the successful uterine transplantation survey. The first Czech uterus transplantation was performed in April 30, 2016.Up to December 2016 four transplantations out of planned 20 (2 in living donor and 2 in deceased brain donor arm) were carried out by our team.

  5. Radiologic imaging of congenital gastrointestinal anomalies in infants

    Directory of Open Access Journals (Sweden)

    Leny Zabidi

    2014-11-01

    Full Text Available Background Congenital gastrointestinal anomalies may manifest signs or symptoms in the first few days of life, most commonly in the form of obstructions. Radiologic imaging plays an important role in diagnosis confirmation and surgical correction plans. Most cases may be diagnosed by plain radiographs alone, but CT scans and MRI may be needed to make accurate diagnoses, especially in difficult cases. Objective To report radiologic imaging findings in infants with congenital gastrointestinal anomalies. Methods For this retrospective, cross-sectional study we took secondary data from medical records of infants with congenital gastrointestinal anomalies in Dr. Kariadi Hospital, Semarang, Indonesia from January 2010 – June 2011. Diagnosis of congenital anomalies was confirmed by clinical manifestation and radiologic imaging. Radiologic findings were reviewed by a single radiologist on duty at that time. Data is presented in the form of frequency distribution. Results Subjects consisted of 50 males and 23 females. The most common complaints were vomiting in 14 subjects (19%, abdominal distension in 31 subjects (43%, and fecal passage dysfunction in 28 subjects (38%. Radiologic imaging of subjects with congenital gastrointestinal anomalies revealed the following conditions: anal atresia in 28 subjects (38%, congenital megacolon in 21 subjects (29%, esophageal atresia in 14 subjects (19%, duodenal atresia in 9 subjects (12%, and pyloric atresia in 1 subject (2%. Conclusion Using radiologic imaging of infants with congenital gastrointestinal anomalies, the most to least common conditions found were anal atresia, congenital megacolon, esophageal atresia, duodenal atresia, and pyloric atresia.

  6. Genetics of Congenital Cataract.

    Science.gov (United States)

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  7. Clinical experience in coronary stenting with the Vivant Z Stent.

    Science.gov (United States)

    Chee, K H; Siaw, F S; Chan, C G; Chong, W P; Imran, Z A; Haizal, H K; Azman, W; Tan, K H

    2005-06-01

    This single centre study was designed to demonstrate feasibility, safety and efficacy of the Vivant Z stent (PFM AG, Cologne, Germany). Patients with de novo lesion were recruited. Coronary angioplasty was performed with either direct stenting or after balloon predilatation. Repeated angiogram was performed 6 months later or earlier if clinically indicated. Between January to June 2003, a total of 50 patients were recruited (mean age 55.8 +/- 9 years). A total of 52 lesions were stented successfully. Mean reference diameter was 2.77 mm (+/-0.59 SD, range 2.05-4.39 mm) with mean target lesion stenosis of 65.5% (+/-11.6 SD, range 50.1-93.3%). Forty-six lesions (88.5%) were American College of Cardiologist/American Heart Association class B/C types. Direct stenting was performed in 18 (34.6%) lesions. Mean stent diameter was 3.18 mm (+/-0.41 SD, range 2.5-4 mm), and mean stent length was 14.86 mm (+/-2.72 SD, range 9-18 mm). The procedure was complicated in only one case which involved the loss of side branch with no clinical sequelae. All treated lesions achieved Thrombolysis In Myocardial Infarction 3 flow. Mean residual diameter stenosis was 12.2% (+/-7.55 SD, range 0-22.6%) with acute gain of 1.72 mm (+/-0.50 SD, range 0.5-2.8). At 6 months, there was no major adverse cardiovascular event. Repeated angiography after 6 months showed a restenosis rate of 17% (defined as >50% diameter restenosis). Mean late loss was 0.96 mm (+/-0.48 SD) with loss index of 0.61 (+/-0.38 SD). The restenosis rate of those lesions less than 3.0 mm in diameter was 22.2% compared with 6.25% in those lesions more than 3.0 mm in diameter. The Vivant Z stent was shown to be safe and efficacious with low restenosis rate in de novo coronary artery lesion.

  8. Clinical experience in Europe with uroselective alpha1-antagonists.

    Science.gov (United States)

    Debruyne, F M; Van der Poel, H G

    1999-01-01

    alpha1-Adrenoreceptors are thought to be involved in prostate smooth muscle contractions and could hence play a role in the dynamic component of intravesical obstruction associated with symptomatic BPH. Consequently, since the mid-eighties alpha receptor blocking agents have been used for the treatment of BPH. Non-selective alpha blockers are usually associated with systemic side-effects which resulted in an exclusion or withdrawal of many patients from this form of treatment. With the availability of so-called uroselective alpha blockers the management picture has changed since it was anticipated that these compounds cause lesser side-effects with at least the same, or even better, efficacy. Comparative clinical studies are essential for determining the eventual advantages of the uroselective alpha1-antagonists and a large number of such studies have been performed worldwide studying the various available compounds. European studies with terazosin showed clear superiority of the drug over the placebo while causing only limited side-effects. Various other studies using alpha-blocking agents such as doxazosin, tamsulosin and alfuzosin yielded identical results. Especially with tamsulosin and alfuzosin, the side-effects were comparable with those encountered in the placebo group. About 7% of the patients using tamsulosin experienced retrograde ejaculation in one study which did not occur in the alfuzosin studies. Important studies in Europe have also investigated the value of a combination of an alpha blocker with a 5alpha-reductase inhibitor. Comparable studies in which both alfuzosin and doxazosin were combined with the 5alpha-reductase inhibitor Proscar have shown that a combination is not superior to a blocker monotherapy and especially in the ALFIN study the results show that alfuzosin monotherapy is superior to Proscar in the management of symptomatic BPH. European studies have evaluated Quality of Life, sexuality as well as socio-economical outcome of the

  9. Summary on Clinical Experience of Acupuncture Treating Dry Eye Syndromes

    Institute of Scientific and Technical Information of China (English)

    马晓芃; 杨玲; 莫文权; 施征; 赵粹英

    2009-01-01

    @@ Dry eye syndromes(DES)refer to discomfort in the eye region,visual disturbance,poor stability of lacrimal film,inflammation of eve surface and its potential iniury due to many factors of abnonnal lacrimation[1].Patients with this condition can experience a dry sensation in the eyes,foreign body sensation,burning and itching sensation in the eyes,and blurred vision.The lingering pathological change can lead to decreased transparency of the cornea and hypopsia,affecting the work,study and life,and even resulting in blindness.With popularization of computers,and change in lifestyles,the incidence of DES rises gradually and tends to occur in young age.

  10. Demographic, clinical and radiological characteristics of seronegative spondyloarthritis Egyptian patients: A rheumatology clinic experience in Mansoura

    Directory of Open Access Journals (Sweden)

    Adel Abdelsalam

    2017-04-01

    Conclusion: The demographic, clinical and radiological characteristics of Egyptian SpA patients are comparable to those from other countries except for the lower prevalence of extra-articular manifestations.

  11. 42 CFR 482.80 - Condition of participation: Data submission, clinical experience, and outcome requirements for...

    Science.gov (United States)

    2010-10-01

    ... center. (3) A pancreas transplant center is not required to comply with the clinical experience... pancreas transplants performed at the center. (4) A center that is requesting initial Medicare approval...

  12. Professor RUAN Shao-nan's Clinical Experience in Treating Apoplectic Hemiplegia

    Institute of Scientific and Technical Information of China (English)

    ZHU Xiao-ying

    2003-01-01

    @@ It is my great honor as a successor of national senior doctor of Chinese medicine to follow doctor RUAN Shao -nan. Now I summarize his clinical experience in the treatment of hemiplegia after apoplexy as follows.

  13. Student Pharmacists’ Clinical Interventions in Advanced Pharmacy Practice Experiences at a Community Nonteaching Hospital

    OpenAIRE

    Shogbon, Angela O.; Lundquist, Lisa M.

    2014-01-01

    Objective. To assess student pharmacists’ clinical interventions in advanced pharmacy practice experiences (APPEs) at a community nonteaching hospital and evaluate completed interventions based on the type of documentation method used.

  14. Our clinical experience on laparoscopic splenectomy: Outcomes of 38 patients

    Directory of Open Access Journals (Sweden)

    Zübeyir Bozdağ

    2015-12-01

    Full Text Available Objective: Laparoscopic splenectomy has gained widespread acceptance in the treatment of hematological diseases in recent years. In this study, we aimed to present the outcomes of the patients who underwent laparoscopic splenectomy. Methods: Between 2012 and 2015, the data of 38 patients, who underwent laparoscopic splenectomy for hematological diseases at our clinic, were evaluated retrospectively. Results: 15 males and 23 females patients were underwent laparoscopic splenectomy, and the average age was 33.9 ± 12.9 years. Indications for splenectomy were idiopathic thrombocytopenic purpura (ITP in 34 patients, and hereditary spherocytosis in 4 patients. During the surgical exploration, accessory spleen was detected in 7 patients, and removed. Laparoscopic cholecystectomy was performed at the same session in 2 hereditary spherocytosis patients who had stones in the gallbladder. One patient was converted to the open surgery due to the bleeding which was eliminated the exposure during the dissection. At the postoperative period, we observed atelectasis in one patient, and wound fat necrosis in one patient. In addition, thrombocytosis was observed in one patient. Hematological treatment was continued because of persistent refractory thrombocytopenia in two patients, and temporary thrombocytopenia in four patients. An accessory spleen was detected with splenic scintigraphy in one of these patients at the postoperative period. The average hospitalization time was 2.6 ± 0.7 days. Conclusion: Laparoscopic splenectomy for hematological diseases may be considered as first-line therapy with less hospital stay and morbidity.

  15. Student service learning and dementia: bridging classroom and clinical experiences.

    Science.gov (United States)

    Corwin, Melinda; Owen, Donna; Perry, Carolyn

    2008-01-01

    University students in speech-language pathology and nursing were involved in a community service learning project with residents of a long-term care facility who had dementia. Nursing students were asked to interact and converse with residents to the best of their ability (control group, n = 28). Speech-language pathology students were instructed to design a personalized, multi-modality "connection kit" for residents based on the tenets of cognitive linguistic stimulation and facilitative styles of interaction, which were included within course content (experimental group, n = 25). Post-project surveys were administered in an attempt to answer the following research question: Do students perceive benefits from participating in a service learning project involving long-term care residents with dementia? Results revealed that the experimental/trained group of speech-language pathology students reported greater academic and clinical benefits compared to the control group of nursing students. Overall implications were that students benefited from a service learning project, especially when explicit instruction was provided.

  16. Clinical experience with apixaban in atrial fibrillation: implications of AVERROES

    Directory of Open Access Journals (Sweden)

    De Caterina R

    2011-07-01

    Full Text Available Raffaele De CaterinaInstitute of Cardiology and Center of Excellence on Aging, G d’Annunzio University, Chieti, G Monasterio Foundation, Pisa, ItalyAbstract: Atrial fibrillation is an extremely common arrhythmia, which substantially increases the risk of stroke and thromboembolism. Prevention of stroke and thromboembolism is therefore an important part of the management of atrial fibrillation. Guidelines until now have recommended that patients with atrial fibrillation receive some form of antithrombotic therapy, ie, a vitamin K antagonist or aspirin, with a preference for anticoagulants in most cases. However, current treatments are suboptimal, and despite the recommendations, many patients do not receive adequate thromboprophylaxis, because they are considered, for various reasons, “unsuitable” to receive a vitamin K antagonist. In this patient population, apixaban, a new oral anticoagulant inhibiting activated coagulation factor X, administered in fixed doses and without anticoagulation monitoring, has undergone testing against aspirin in the recently published AVERROES trial. This paper addresses the strengths and limitations of this trial and the practical relevance of the new clinical information it provides.Keywords: atrial fibrillation, apixaban, thromboprophylaxis 

  17. Defecography by digital radiography: experience in clinical practice*

    Science.gov (United States)

    Gonçalves, Amanda Nogueira de Sá; Sala, Marco Aurélio Sousa; Bruno, Rodrigo Ciotola; Xavier, José Alberto Cunha; Indiani, João Mauricio Canavezi; Martin, Marcelo Fontalvo; Bruno, Paulo Maurício Chagas; Nacif, Marcelo Souto

    2016-01-01

    Objective The objective of this study was to profile patients who undergo defecography, by age and gender, as well as to describe the main imaging and diagnostic findings in this population. Materials and Methods This was a retrospective, descriptive study of 39 patients, conducted between January 2012 and February 2014. The patients were evaluated in terms of age, gender, and diagnosis. They were stratified by age, and continuous variables are expressed as mean ± standard deviation. All possible quantitative defecography variables were evaluated, including rectal evacuation, perineal descent, and measures of the anal canal. Results The majority (95%) of the patients were female. Patient ages ranged from 18 to 82 years (mean age, 52 ± 13 years): 10 patients were under 40 years of age; 18 were between 40 and 60 years of age; and 11 were over 60 years of age. All 39 of the patients evaluated had abnormal radiological findings. The most prevalent diagnoses were rectocele (in 77%) and enterocele (in 38%). Less prevalent diagnoses were vaginal prolapse, uterine prolapse, and Meckel's diverticulum (in 2%, for all). Conclusion Although defecography is performed more often in women, both genders can benefit from the test. Defecography can be performed in order to detect complex disorders such as uterine and rectal prolapse, as well as to detect basic clinical conditions such as rectocele or enterocele. PMID:28100932

  18. The First Experience of Clinical Practice on Psychology Students’ Imaginary

    Directory of Open Access Journals (Sweden)

    Sueli Regina Gallo-Belluzzo

    2013-09-01

    Full Text Available Considering the academic development of the psychologist as a complex process which articulates the transmission of scientific knowledge and changes in imaginative activity, we psychoanalytically investigate the collective imaginary of Psychology students regarding the first clinical consultation. We conducted a group interview with 52 undergraduate students, using the Thematic Story-Drawing Procedure as a way to open a dialogical field. The material obtained, through the psychoanalytical method, resulted in the creation/gathering of four affective-emotional meaning fields: “I came, I saw and I conquered”, “I know that I (do not know”, “I survived and I will save” and “I am and I do”, from which we see an emotionally immature imaginary about the meeting with the patient, since students are more self-centered than concerned with the patient. The overall situation indicates the need for care regarding student academic development, in order to encourage a more mature approach toward the suffering of the other.

  19. Autoimmune Hemolytic Anemia in Children: Mayo Clinic Experience.

    Science.gov (United States)

    Sankaran, Janani; Rodriguez, Vilmarie; Jacob, Eapen K; Kreuter, Justin D; Go, Ronald S

    2016-04-01

    We studied 35 pediatric patients with autoimmune hemolytic anemia seen at Mayo Clinic from 1994 to 2014. The median age was 10.0 years and 65.7% were males. Most had warm antibodies (80.0%) and some secondary to viral (14.3%) or autoimmune disorders (31.4%). Seven (20.0%) patients presented with Evans syndrome, 3 of whom also had common variable immunodeficiency. The median hemoglobin at diagnosis was 6.1 g/dL and 62.8% patients required red cell transfusions. The severity of anemia was worse among children below 10 years (median 5.5 vs. 7.0 g/dL, P=0.01). Steroid was the initial treatment for 88.5% patients, with overall response rate of 82.7% (68.5% complete, 14.2% partial) and median response duration of 10.7 months (range, 0.2 to 129.7+ mo). After median follow-up of 26.6 months, 8 (22.8%) patients relapsed. Salvage treatments included splenectomy, intravenous immunoglobulin, rituximab, and mycophenolate mofetil. Infectious complications occurred in 9 (25.7%) patients and 1 patient died of cytomegalovirus infection. Four patients had cold agglutinin disease and 3 (75.0%) responded to steroids. Autoimmune hemolytic anemia is a rare disorder in pediatric population and most respond well to steroids regardless of the type of antibody. Infectious complications are common and screening for immunodeficiency is recommended among those with Evans syndrome.

  20. The clinical phenotype analysis of 116 congenital cataract patients in Yunnan province%云南省116例先天性白内障的临床形态分析

    Institute of Scientific and Technical Information of China (English)

    李娟娟; 马璇; 胡竹林

    2011-01-01

    Background Congenital cataract is the major cause of blindness in children with plentiful clinical manifestations and closely linked with genetics. Objective Present study was to investigate the classification of congenital cataract in Yunnan province.Methods The manifestation characteristics of 184 eyes of 116 patients with congenital cataract in Yunnan province were analyzed.The relationship of performance of various types of congenital cataract between phenotype and hereditary feature were explored. Results All of the 116 congenital cataract eyes from 116 patients were divided into ten types based on the clinical appearance,including the complete cataract,nuclear cataract,posterior polar cataract,anterior polar cataract,coralliform cataract,coronary cataract,pulverulent cataracts,lamellar cataract and blue cataract.Bilateral nuclear cataract and unilateral entire cataract is most prevalent in these patients.Blue cataract and coralliform cataract belong to the less types.Forty-four in 116 cases were found to have the hereditary history and determined as autosomal dominant inheritance.Sporadic cases were determined in 72 cases.Conclusions The analysis of phenotype of the hereditary congenital cataract offers some clues to the classification of congenital cataract.%背景 先天性白内障是儿童主要的致盲眼病之一,其临床表现多样,并与遗传学有着密切联系.目的 探讨云南省先天性白内障患者的临床形态特点.方法 回顾性分析2005年1月至2010年1月在云南省红十字会医院眼科诊断和治疗的先天性白内障患者116例184眼,裂隙灯下检查患眼前后节,根据晶状体混浊的部位、形态等进行分类,分析晶状体混浊的形态学特点及各类型的发病情况,并探讨先天性白内障表现型和遗传型之间的关系.结果116例患者按晶状体混浊的临床形态特点分为10种类型,包括全白内障、核性白内障、后极性白内障、前极性白内障、缝性白内

  1. Expertise in Clinical Psychology.The Effects of University Training and Practical Experience on Expertise in Clinical Psychology

    Directory of Open Access Journals (Sweden)

    Sabine eVollmer

    2013-03-01

    Full Text Available How do university training and subsequent practical experience affect expertise in clinical psychology? To answer this question we developed methods to assess psychological knowledge and the competences to diagnose, construct case conceptualizations, and plan psychotherapeutic treatment: a knowledge test and short case studies in a first study, and a complex, dynamically evolving case study in the second study. In our cross-sectional studies, psychology students, trainees in a certified postgraduate psychotherapist curriculum, and behavior therapists with more than ten years of experience were tested (100 in total: 20 each of novice, intermediate, and advanced university students, postgraduate trainees, and therapists. Clinical knowledge and competences increased up to the level of trainees but unexpectedly decreased at the level of experienced therapists. We discuss the results against the background of expertise research and the training of clinical psychologists (in Germany. Essential factors for continuing education of psychotherapists are proposed.

  2. Expertise in clinical psychology. The effects of university training and practical experience on expertise in clinical psychology.

    Science.gov (United States)

    Vollmer, Sabine; Spada, Hans; Caspar, Franz; Burri, Salome

    2013-01-01

    How do university training and subsequent practical experience affect expertise in clinical psychology? To answer this question we developed methods to assess psychological knowledge and the competence to diagnose, construct case conceptualizations, and plan psychotherapeutic treatment: a knowledge test and short case studies in a first study, and a complex, dynamically evolving case study in the second study. In our cross-sectional studies, psychology students, trainees in a certified postgraduate psychotherapist curriculum, and behavior therapists with more than 10 years of experience were tested (100 in total: 20 each of novice, intermediate, and advanced university students, postgraduate trainees, and therapists). Clinical knowledge and competence increased up to the level of trainees but unexpectedly decreased at the level of experienced therapists. We discuss the results against the background of expertise research and the training of clinical psychologists (in Germany). Important factors for the continuing professional development of psychotherapists are proposed.

  3. Clinical evaluation of advancement flap surgical technique for congenital concealed penis%渐进性皮瓣转移技术治疗先天性隐匿阴茎

    Institute of Scientific and Technical Information of China (English)

    陈杰; 徐卯升; 耿红全; 徐国锋; 咸华

    2009-01-01

    目的 通过总结103例先天性隐匿阴茎的临床资料,探讨渐进性皮瓣转移技术应用于先天性隐匿阴茎的诊治经验.方法 2006年7月至2008年9月,采用渐进性皮瓣转移技术治疗先天性隐匿阴茎患儿103例,年龄为6个月至12.3岁,所有病例均符合先天性隐匿阴茎的诊断,其中3例伴有明显肥胖.结果平均随访1.5年(6个月至2.5年).所有患儿阴茎外观均较满意,阴茎显露好,无包皮臃肿现象.术后1例冈阴茎根部皮肤附着不佳仍有同缩,2例患儿在阴茎根部切口处轻度裂开.结论 渐进性皮瓣转移技术治疗先天性隐匿阴茎,术后阴茎外观接近包茎术后表现,术后再回缩等并发症少.渐进性皮瓣转移技术可以作为治疗先天性隐匿阴茎的常规术式.%Objective To summarize the clinical data of 103 children with congenital concealed penis treated with advancement flap surgical technique. Methods From July 2006 to September 2008, 103 children with congenital concealed penis underwent penial plasty using advancement flap surgical technique. The patients aged from 6 months to 12. 3 years. Three patients were extremely obese. Resuits The mean follow-up period was 1.5 years. All patients gained good postoperative cosmetic appearance with satisfactory exposure of penis and no malformation of prepuce. Only one patient underwent a reoperation for recurrent retraction caused by unstable attachment at the radix of penis. Two patients suffered slight disruption of wound at the radix of penis. Conclusions Flap surgical technique can provide immediate and excellent cosmetic results with a low incidence of complications. The advancement flap surgical technique can be adopted as a regular procedure for treating children with congenital concealed penis.

  4. Clinical analysis of 9 cases of complicated pneumomediastinum in infants with congenital heart disease after open heart surgery.%婴幼儿先心病术后并发纵膈气肿临床分析

    Institute of Scientific and Technical Information of China (English)

    仇杰; 费忠化; 刘宏生

    2012-01-01

    Objective To explore the common causes, diagnosis and treatment approaches in infants with congenital heart disease complicated pneumomediastinum after open heart surgery. Methods The diagnosis and treatment approaches of complicated pneumomediastinum of 9 infants with congenital heart disease after open-heart surgery from January 2011 to February 2012 in our hospital were retrospectively studied. Results 5 cases recovered in all patients, 3 cases treatment ineffective ( can' t maintain the circulation and abandoned treatment) , 1 case died due to the ineffective control of serious infection. Conclusions Congenital heart disease complicated pneumomediastinum in children after open heart surgery has great influences on heart-lung capability, and may complicated with mediastinal infection. Otherwise, because of it s variation in clinical manifestations, misdiagnosis and a high mortality rate were likely to happen. With an early diagnosis and treatment, the effect goes well.%目的 探讨婴幼儿先心病术后合并纵隔气肿的常见病因、诊断和治疗方法.方法回顾性分析作者于2011年1月至2012年2月收治的9例婴幼儿心内直视手术后并发纵隔气肿患儿临床资料.结果 本组患儿中5例痊愈,3例治疗效果欠佳,不能维持循环功能,家属放弃治疗,1例因严重感染未得到有效控制而死亡.结论 小儿先心病术后合并纵隔气肿,对心肺功能影响大,并可并发纵膈感染,临床表现多样,易发生误诊或漏诊,死亡率高,如能早期诊断,及时治疗,效果良好.

  5. Clinical experience in the use of marginal donor hearts

    Institute of Scientific and Technical Information of China (English)

    XIE Ai-ni; DONG Nian-guo; ZHANG Kai-lun; XIA Jia-hong; XIAO Shi-liang; SUN Zong-quan

    2011-01-01

    Background Although heart transplantation has become a standard therapy for end-stage heart disease, there are few published studies regarding the use of transplant organs from marginal donors. Here we describe the clinical outcome we have obtained using marginal donor hearts.Methods We analyzed 21 cases of orthotropic heart transplantation for end-stage heart disease performed in our department between September 2008 and July 2010. Of these patients, six received hearts from marginal donors and the remainder received standard-donor hearts. The two groups were compared in terms of both mortality and the incidence of perioperative complications such as infection, acute rejection, and right heart insufficiency.Results The 1-year survival rate of both groups was 100%. Only one death was recorded in standard-donor group during follow-up. Patients who received marginal donor hearts (83%) experienced more early complications than did the standard-donor-heart group (13%), but the mortality of the two groups was the same. The duration of post-ICU stay was greater in the marginal donor group than in the standard-donor group, (35.5±17.4) days and (21.7±2.6) days, respectively (P <0.05).Conclusions The use of marginal donor hearts increases the number of patients who can receive and benefit from transplants. However, it may introduce an increased risk of early complications, thus care should be taken both in the choice of patients who will receive marginal donor hearts and in the perioperative treatment of those for whom the procedure is performed.

  6. Methyldibromo glutaronitrile: clinical experience and exposure-based risk assessment.

    Science.gov (United States)

    Zachariae, Claus; Rastogi, Suresh; Devantier, Charlotte; Menné, Torkil; Johansen, Jeanne Duus

    2003-03-01

    In the year 2000, the level of methyldibromo glutaronitrile (MDGN) allergy in dermatology clinics in Europe exceeded the level of allergies to all other preservatives, with a prevalence of 3.5%. In the present study, cases of primary sensitization and elicitation to MDGN due to cosmetic products were collected over an 8-month period at the Department of Dermatology, Gentofte University Hospital. The aim was to identify the products related to hand eczema, assess exposure to MDGN in these products and relate the findings to results from a newly developed updated risk assessment model for contact allergy. Out of 24 patients with a positive patch test to MDGN, 17 patients with hand eczema were identified. In 11 of these patients, cosmetic products used in relation to the onset of the disease were shown to contain MDGN (65%). In 8 of these 11 cases, primary sensitization was probable, 5 due to hand/body lotions and 3 due to lotions and/or liquid hand soap. Chemical analysis of 12 products showed that lotions contained 149-390 ppm of MDGN, liquid hand soap 144-399 ppm, a rinsing cream 293 ppm and shampoos 78-79 ppm. The shampoo exposure was not of certain relevance to the eczema. Applying the newly developed updated risk assessment model showed that the concentrations of MDGN in lotions of 149-390 ppm exceeded the calculated maximum acceptable exposure level for MDGN, which would be expected to lead to sensitization in consumers using such products, as seen in the current study. The present cases and updated exposure-based risk assessment process add to the evidence and need for re-defining safe-use concentrations of MDGN in cosmetic products.

  7. Adult Intussusception: Clinical Experience from a Single Center.

    Science.gov (United States)

    Ozogul, Bunyami; Kisaoglu, Abdullah; Ozturk, Gurkan; Atamanalp, Sabri Selcuk; Yıldırgan, Mehmet İlhan; Aköz, Ayhan; Aydinli, Bulent

    2015-12-01

    Though frequently observed in children, intussusception is a rare state in adults. The treatment of intussusception in adults is different. In this trial, we have presented intussusception cases in adults that were treated and followed up in our department. The records of 31 adult intussusception cases surgically treated in our department between January 1993 and July 2012 were evaluated retrospectively. Among the 31 adult cases of intussusception that were treated during a period of 19 years, 10 were men, and 21 were women. The mean age was determined as 39.7 ± 5.3. The presentation symptom was abdominal pain in all the patients. Failure to pass gas or feces was observed in 23 patients (74.2 %); nausea and vomiting, in 22 patients (70.9 %); hematochezia, in 16 patients (51.6 %); and weight loss, in 3 patients (9.6 %). The mean duration of symptoms was 4.8 days. Abdominal tenderness was found in all the patients. Muscular defense and rebound tenderness were determined in 13 patients (41.9 %). Findings of intussusception were found in 80.9 % of patients examined by abdominal ultrasonography and in 63.1 % of cases examined by computerized tomography. Resection of the intussuscepted bowel segment was performed in 87 % of the patients. In conclusion, intussusception in adults is a rare clinical entity. Intussusception should be considered in the differential diagnosis in patients presenting with spasmodic abdominal pain, especially in cases with intestinal obstruction. The recommended surgical method is en bloc resection of the intussuscepted segment in cases suspected to carry a risk of malignancy.

  8. Clinical course of ectopic pregnancy: A single-center experience

    Directory of Open Access Journals (Sweden)

    Aqueela Ayaz

    2013-01-01

    Full Text Available Objectives: The objective was to highlight the frequency, clinical profile, and predisposing factors of ectopic pregnancy (EP in a general hospital. Materials and Methods: This descriptive study was conducted at the Obstetrics and Gynaecology department of Hera General hospital, Makkah, Saudi Arabia, from July 1, 2009 to December 29, 2010. Data were collected on chief medical complaints, sociodemographic characteristics, past obstetrics and gynecological history, management done, and outcome of management. Data were analyzed using Microsoft Office Excel (version 2007. Results: Out of total 7564 pregnancies, 44 (0.58% patients were diagnosed as EP. Out of 44, 22 (50% patients presented within 24 h of onset of symptoms. Mean age was 28 ± 7 years. Multigravida were predominant in 25 (57%, and 21 (48% had gestational age of 6-8 weeks at the time of presentation; the common presenting features were amenorrhea (41, 93.2%, abdominal pain (39, 88.6%, and tenderness (38, 86%. Previous pelvic surgery (13, 29.5%, infertility treatment (11, 25%, and pelvic inflammatory disease (10, 22.7% were the common predisposing factors. Twenty-five (57% presented with ruptured EP and were operated within 24 h, and the remaining were kept under observation till further diagnosis. After confirming the diagnosis, 12/19 underwent laparoscopy, whereas 7/19 received medical treatment. Surgery confirmed fallopian tube pregnancies in 35 (94.5%. No mortality was observed. Conclusion: Previous pelvic surgeries were the major etiological factor for EP. Other factors were infertility treatment and pelvic inflammatory disease. The most common site of EP was fallopian tubes.

  9. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  10. Congenital right hemidiaphragmatic agenesis

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  11. Congenital Syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-06-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  12. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  13. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  14. "Drop in" gastroscopy outpatient clinic - experience after 9 months

    Directory of Open Access Journals (Sweden)

    Huppertz-Hauss Gert

    2012-02-01

    Full Text Available Abstract Background Logistics handling referrals for gastroscopy may be more time consuming than the examination itself. For the patient, "drop in" gastroscopy may reduce uncertainty, inadequate therapy and time off work. Methods After an 8-9 month run-in period we asked patients, hospital staff and GPs to fill in a questionnaire to evaluate their experience with "drop in" gastroscopy and gastroscopy by appointment, respectively. The diagnostic gain was evaluated. Results 112 patients had "drop in" gastroscopy and 101 gastroscopy by appointment. The number of "drop in" patients varied between 3 and 12 per day (mean 6.5. Mean time from first GP consultation to gastroscopy was 3.6 weeks in the "drop in" group and 14 weeks in the appointment group. The half-yearly number of outpatient gastroscopies increased from 696 before introducing "drop in" to 1022 after (47% increase and the proportion of examinations with pathological findings increased from 42% to 58%. Patients and GPs expressed great satisfaction with "drop in". Hospital staff also acclaimed although it caused more unpredictable working days with no additional staff. Conclusions "Drop in" gastroscopy was introduced without increase in staff. The observed increase in gastroscopies was paralleled by a similar increase in pathological findings without any apparent disadvantages for other groups of patients. This should legitimise "drop in" outpatient gastroscopies, but it requires meticulous observation of possible unwanted effects when implemented.

  15. Particle beam therapy (hadrontherapy): basis for interest and clinical experience.

    Science.gov (United States)

    Orecchia, R; Zurlo, A; Loasses, A; Krengli, M; Tosi, G; Zurrida, S; Zucali, P; Veronesi, U

    1998-03-01

    The particle or hadron beams deployed in radiotherapy (protons, neutrons and helium, carbon, oxygen and neon ions) have physical and radiobiological characteristics which differ from those of conventional radiotherapy beams (photons) and which offer a number of theoretical advantages over conventional radiotherapy. After briefly describing the properties of hadron beams in comparison to photons, this review discusses the indications for hadrontherapy and analyses accumulated experience on the use of this modality to treat mainly neoplastic lesions, as published by the relatively few hadrontherapy centres operating around the world. The analysis indicates that for selected patients and tumours (particularly uveal melanomas and base of skull/spinal chordomas and chondrosarcomas), hadrontherapy produces greater disease-free survival. The advantages of hadrontherapy are most promisingly realised when used in conjunction with modern patient positioning, radiation delivery and focusing techniques (e.g. on-line imaging, three-dimensional conformal radiotherapy) developed to improve the efficacy of photon therapy. Although the construction and running costs of hadrontherapy units are considerably greater than those of conventional facilities, a comprehensive analysis that considers all the costs, particularly those resulting from the failure of less effective conventional radiotherapy, might indicate that hadrontherapy could be cost effective. In conclusion, the growing interest in this form of treatment seems to be fully justified by the results obtained to date, although more efficacy and dosing studies are required.

  16. Experiences of Student Speech-Language Pathology Clinicians in the Initial Clinical Practicum: A Phenomenological Study

    Science.gov (United States)

    Nelson, Lori A.

    2011-01-01

    Speech-language pathology literature is limited in describing the clinical practicum process from the student perspective. Much of the supervision literature in this field focuses on quantitative research and/or the point of view of the supervisor. Understanding the student experience serves to enhance the quality of clinical supervision. Of…

  17. Geriatric Medicine Fellows' Experiences and Attitudes toward an Objective Structured Clinical Examination (OSCE)

    Science.gov (United States)

    Bagri, Anita S.; Zaw, Khin M.; Milanez, Marcos N.; Palacios, Juan J.; Qadri, Syeda S.; Bliss, Linda A.; Roos, Bernard A.; Ruiz, Jorge G.

    2009-01-01

    A total of 8 geriatric medicine fellows participated in an objective structured clinical examination (OSCE) assessing communication skills and clinical reasoning in common geriatric syndromes. To determine their perceptions about the experience, we conducted surveys and semistructured interviews. We analyzed the survey data using descriptive…

  18. Children's Views Matter Too! A Pilot Project Assessing Children's and Adolescents' Experiences of Clinical Psychology Services

    Science.gov (United States)

    Gordon, Michael; Russo, Kate

    2009-01-01

    This pilot study explored the experiences and understanding of clinical psychology practices and services of children and adolescents attending clinical psychology outpatient appointments. Fifteen young participants took part in the study. A content analysis indicated that young children and adolescents have an appropriate understanding of the…

  19. Students' Experiences of Clinic-Based Learning during a Final Year Veterinary Internship Programme

    Science.gov (United States)

    Matthew, Susan M.; Taylor, Rosanne M.; Ellis, Robert A.

    2010-01-01

    This study investigated veterinary students' experiences of clinic-based learning (CBL) during a comprehensive final year internship programme. Open-ended surveys (n = 93) were used to gather qualitative data about students' conceptions of what is learned during CBL and their approaches to learning in clinics. Phenomenography was used for detailed…

  20. Authenticity in Learning--Nursing Students' Experiences at a Clinical Education Ward

    Science.gov (United States)

    Manninen, Katri; Henriksson, Elisabet Welin; Scheja, Max; Silen, Charlotte

    2013-01-01

    Purpose: This study aims to explore and understand first year nursing students' experiences of learning at a clinical education ward. Design/methodology/approach: The setting is a clinical education ward for nursing students at a department of infectious diseases. A qualitative study was carried out exploring students' encounters with patients,…

  1. Experience of cardiopulmonary bypass in congenital heart disease surgery of low weight infants%低体重婴幼儿先心病手术的体外循环经验

    Institute of Scientific and Technical Information of China (English)

    黄东娇; 李传在

    2014-01-01

    目的:总结本院5年来10kg以下婴幼儿先天性心脏病的体外循环管理经验。方法:2009年7月-2014年7月收治先天性心脏病患儿123例,根据畸形复杂程度,采用浅低温或中低温体外循环,重视各种脏器的保护。结果:全组体外循环时间25~188 min,主动脉阻断时间10~123 min,转流中Hct 0.25~0.30,均顺利脱机。术后死亡5例。结论:对于婴幼儿先天性心脏病的 ECC 管理力求做到精细,能够减轻体外循环对婴幼儿的生理干扰,促进术后恢复,减少术后并发症及死亡率。%Objective:To summarize the management experience on cardiopulmonary bypass in congenital heart disease surgery of infants below 10kg weight in recent 5 years.Methods:123 infants with congenital heart disease were selected from July 2009 to July 2014,according to the complicated degree of deformity,we used extracorporeal circulation of mild hypothermia or in low temperature,we attached great importance to the protection of various organs.Results:the cardiopulmonary bypass time of the whole group was 25~188min,aortic cross clamping time was 10~123min,Hct in bypass was 0.25~0.30,all of them were successfully offline.5 cases were death in postoperative.Conclusion:For the ECC management of infants with congenital heart disease we must strive to do fine,so that can reduce the physiological disturbance of extracorporeal circulation on infants and promote postoperative recovery and reduce postoperative complications and mortality.

  2. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  3. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  4. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  5. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  6. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  7. Facilitative and obstructive factors in the clinical learning environment: Experiences of pupil enrolled nurses

    Directory of Open Access Journals (Sweden)

    Eucebious Lekalakala-Mokgele

    2015-02-01

    Full Text Available Background: The clinical learning environment is a complex social entity that influences student learning outcomes in the clinical setting. Students can experience the clinical learning environment as being both facilitative and obstructive to their learning. The clinical environment may be a source of stress, creating feelings of fear and anxiety which in turn affect the students’ responses to learning. Equally, the environment can enhance learning if experienced positively.Objectives: This study described pupil enrolled nurses’ experiences of facilitative and obstructive factors in military and public health clinical learning settings.Method: Using a qualitative, contextual, exploratory descriptive design, three focus group interviews were conducted until data saturation was reached amongst pupil enrolled nurses in a military School of Nursing.Results: Data analysed provided evidence that acceptance by clinical staff and affordance of self-directed learning facilitated learning. Students felt safe to practise when they were supported by the clinical staff. They felt a sense of belonging when the staff showed an interest in and welcomed them. Learning was obstructed when students were met with condescending comments. Wearing of a military uniform in the public hospital and horizontal violence obstructed learning in the clinical learning environment.Conclusion: Students cannot have effective clinical preparation if the environment is not conducive to and supportive of clinical learning, The study shows that military nursing students experience unique challenges as they are trained in two professions that are hierarchical in nature. The students experienced both facilitating and obstructing factors to their learning during their clinical practice. Clinical staff should be made aware of factors which can impact on students’ learning. Policies need to be developed for supporting students in the clinical learning environment.

  8. The management of congenital malpositions of eyelids, eyes and orbits.

    Science.gov (United States)

    Morax, S; Hurbli, T

    1988-01-01

    Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malformations such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbital plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos).

  9. Congenital granular cell lesion: A rare tumor of new born

    Directory of Open Access Journals (Sweden)

    Rajesh Kumar

    2013-01-01

    Full Text Available Congenital granular cell tumor (CGCT, or congenital epulis, is an uncommon benign soft tissue lesion that usually arises from the alveolar mucosa of neonates and may cause respiratory and feeding problems. The histogenesis and clinical history of the lesion remains obscure. Treatment involves surgical excision and recurrences are rare. The present report describes a case of congenital granular cell lesion (CGCL in the anterior segment of maxillary alveolar ridge of a 2-month-old female. This lesion was causing feeding problem and was excised under local anesthesia, with no recurrence even after 3 years.

  10. Clinical impact of left ventricular eccentricity index using cardiac MRI in assessment of right ventricular hemodynamics and myocardial fibrosis in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yamasaki, Yuzo; Kamitani, Takeshi; Yamanouchi, Torahiko; Honda, Hiroshi [Kyushu University, Departments of Clinical Radiology, Graduate School of Medical Sciences, Fukuoka (Japan); Nagao, Michinobu; Kawanami, Satoshi [Kyushu University, Molecular Imaging and Diagnosis, Graduate School of Medical Sciences, Fukuoka (Japan); Yamamura, Kenichiro [Kyushu University, Pediatrics, Graduate School of Medical Sciences, Fukuoka (Japan); Sakamoto, Ichiro [Kyushu University, Cardiovascular Medicine, Graduate School of Medical Sciences, Fukuoka (Japan); Yabuuchi, Hidetake [Kyushu University, Health SciencesGraduate School of Medical Sciences, Fukuoka (Japan)

    2016-10-15

    To investigate the utility of eccentricity index (EI) using cardiac cine MRI for the assessment of right ventricular (RV) hemodynamics in congenital heart disease (CHD). Fifty-five patients with CHD (32 women; mean age, 40.7 ± 20.9 years) underwent both cardiac MRI and right heart catheterization. EI was defined as the ratio of the distance between the anterior-posterior wall and the septal-lateral wall measured in the short-axis of mid-ventricular cine MRI. Correlations between EIs and RV hemodynamic parameters were analyzed. EIs were compared between patients with and without late gadolinium enhancement (LGE). A strong correlation between mean pulmonary artery pressure (PAP) and systolic EI (r = 0.81, p < 0.0001) and a moderate negative correlation between diastolic EI and RV ejection fraction (EF) (r = -0.62, p < 0.0001) were observed. Receiver operating characteristic analysis revealed optimal EI thresholds for detecting patients with mean PAP ≥40 mmHg with C-statistics of 0.90 and patients with RVEF <40 % with C-statistics of 0.78. Systolic EIs were significantly greater for patients with LGE (1.45 ± 0.05) than for those without LGE (1.15 ± 0.07; p < 0.001). EI offers a simple, comprehensive index that can predict pulmonary hypertension and RV dysfunction in CHD. (orig.)

  11. The Lived Experience and Training Needs of Librarians Serving at the Clinical Point-of-Care.

    Science.gov (United States)

    Lyon, Jennifer A; Kuntz, Gretchen M; Edwards, Mary E; Butson, Linda C; Auten, Beth

    2015-01-01

    This study examines the emotional experiences and perceptions of librarians embedded into clinical care teams and how those perceptions affect their training and preparation needs. Qualitative research methodologies were applied to textual data drawn from focus groups (n = 21), interviews (n = 2), and an online survey (n = 167), supplemented by quantitative survey data. Phenomenological results show librarians experience strongly affective responses to clinical rounding. Important factors include personal confidence; relationships with team members, patients, and families; and the stressful environment. Analysis of librarians' perceived educational needs indicates that training must address specialized subjects including medical knowledge, clinical culture, and institutional politics.

  12. Nursing students’ perception of clinical learning experiences as provided by the nursing staff in the wards

    Directory of Open Access Journals (Sweden)

    N. R. C. TIakula

    1993-05-01

    Full Text Available A descriptive survey was carried out, using convenience and systematic sampling in order to better understand the manner in which student nurses perceive their clinical experience in the hospital. Data were collected from 80 subjects in 4 nursing colleges using a critical incident technique. Positive and negative experiences are described,

  13. Comprehensive Experiment--Clinical Biochemistry: Determination of Blood Glucose and Triglycerides in Normal and Diabetic Rats

    Science.gov (United States)

    Jiao, Li; Xiujuan, Shi; Juan, Wang; Song, Jia; Lei, Xu; Guotong, Xu; Lixia, Lu

    2015-01-01

    For second year medical students, we redesigned an original laboratory experiment and developed a combined research-teaching clinical biochemistry experiment. Using an established diabetic rat model to detect blood glucose and triglycerides, the students participate in the entire experimental process, which is not normally experienced during a…

  14. Experience of Adjunct Novice Clinical Nursing Faculty: An Interpretive Case Study

    Science.gov (United States)

    Mann, Carol

    2013-01-01

    The purpose of this qualitative interpretive case study was to describe the experience of adjunct novice clinical nursing faculty who has less than three years teaching experience or feels novice in this setting. The nursing shortage in the United States is well documented and is forecasted to have significant impacts on the health care delivery…

  15. What Students Really Learn: Contrasting Medical and Nursing Students' Experiences of the Clinical Learning Environment

    Science.gov (United States)

    Liljedahl, Matilda; Boman, Lena Engqvist; Fält, Charlotte Porthén; Bolander Laksov, Klara

    2015-01-01

    This paper explores and contrasts undergraduate medical and nursing students' experiences of the clinical learning environment. Using a sociocultural perspective of learning and an interpretative approach, 15 in-depth interviews with medical and nursing students were analysed with content analysis. Students' experiences are described using a…

  16. A Mandala: A Diagram of the Clinical Education Experience in Athletic Training

    Science.gov (United States)

    Cernohous, Steve; West, Sharon

    2007-01-01

    Objective: The objective of this paper is to present the practical use of a Mandala that: 1) provides opportunities for athletic training students to explore, reflect on and appreciate their clinical experiences; 2) provides educators with a model to understand and value athletic training student experiences; 3) organizes and captures factors and…

  17. STUDY OF A TYPICAL PRESENTATIONS IN CONGENITAL DIAPHRAGMATIC HERNIA

    Directory of Open Access Journals (Sweden)

    Venkata Ramana

    2015-10-01

    Full Text Available AIM: To study the clinical features and outcome of congenital Diaphragmatic Hernias with atypical presentation in Paediatric age group. Children with Eventration of Diaphragm are also included in the present study. RESULTS : 20 cases of Diaphragmatic Hernia presented with classical presentation, 4 cases with atypical Presentation and a case with recurrent diaphragmatic hernia. Atypical presentations in congenital Diaphragmatic Hernia are Stomach Volvulus and Malrotati on of Midgut with Volvulus Intestine. 3 Cases with atypical presentation succumbed to death. CONCLUSION: Congenital Diaphragmatic Hernias are common on left side and carries good prognosis. Cases with atypical clinical presentation have 75% mortality. Righ t sided Congenital Diaphragmatic Hernias are rare but carries guarded prognosis.

  18. Experiences of clinical teaching for dental core trainees working in hospital.

    Science.gov (United States)

    Mannion, C J; Brotherton, P

    2014-07-11

    There is recognition that the provision of excellence in education and training results in a skilled and competent workforce. However, the educational experiences of dental core trainees (DCT's) working in the hospital oral and maxillofacial surgery (OMFS) setting have not been previously investigated. In this paper, we examine DCT's learning experiences both 'formal' and 'non-formal' within the hospital setting of ward and clinic-based teaching. Are hospital dental core trainees receiving a meaningful educational experience? To conclude this paper, the authors recommend methods, based upon sound educational principles, to maximise the value of clinical sessions for teaching.

  19. The Clinical Effect of Rehabilitation Education on 48 Cases of Congenital Down Children%康复教育对48例先天愚型儿童的临床影响

    Institute of Scientific and Technical Information of China (English)

    安春梅

    2015-01-01

    ObjectiveTo investigate the clinical effect of rehabilitation education on the children gotten type down .Methods48 cases children with congenital down selected as the research group; the control group was 48 cases which were the same disease at the period. The research group were recieved rehabilitation education but Control group weren’t, compared the social life of two groups .ResultsThe children of control group without health education in motor, cognitive, ifne motor, speech and so on social adaptation ability is lower than the research group, two groups of data was difference (P<0.05). Conclusion The rehabilitation education for children congenital down, it can effectively improve their cognitive, language, sports, social adaptability and ifne motor skills, clinical effect is remarkable, and rehabilitation education has clinical value.%目的:探讨康复教育对先天愚型儿童的临床影响。方法选取先天愚型患儿48例为研究对象,设为研究组;同期选取同症患儿48例作为参照对象,设为对照组;对照组并未进行康复教育,研究组进行康复教育,对比两组社会生活能力。结果未进行健康教育的对照组儿童在运动、认知、精细运动、言语及社会适应能力等方面均低于研究组,两组数据对比具有差异性(P<0.05)。结论康复教育对于先天愚型儿童而言,其能够有效改善其认知、语言、运动、社会适应能力和精细动作等能力,临床效果显著。

  20. A Rare Case of Congenital Simple Cystic Ranula in a Neonate

    Science.gov (United States)

    Singh, Gautam Bir; Rai, Anil K.; Arora, Rubeena; Garg, Sunil; Abbey, Pooja; Shukla, Shailaja

    2013-01-01

    Congenital ranula in a neonate is an uncommon occurrence. We present one such case of the said lesion where the clinical presentation and management were found to be interesting, hitherto unreported in the medical literature. This clinical record also reviews the scant medical literature on congenital ranula in neonates. PMID:24083044

  1. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.

    Science.gov (United States)

    Fujino, Hisanori; Doisaki, Sayoko; Park, Young-Dong; Hama, Asahito; Muramatsu, Hideki; Kojima, Seiji; Sumimoto, Shinichi

    2013-05-01

    The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years confirmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.

  2. Heart transplantation in adult congenital heart disease.

    Science.gov (United States)

    Burchill, Luke J

    2016-12-01

    Heart failure (HF) in adult congenital heart disease (ACHD) is vastly different to that observed in acquired heart disease. Unlike acquired HF in which pharmacological strategies are the cornerstone for protecting and improving ventricular function, ACHD-related HF relies heavily upon structural and other interventions to achieve these aims. patients with ACHD constitute a small percentage of the total adult heart transplant population (∼3%), although the number of ACHD heart transplant recipients is growing rapidly with a 40% increase over the last two decades. The worldwide experience to date has confirmed heart transplantation as an effective life-extending treatment option in carefully selected patients with ACHD with end-stage cardiac disease. Opportunities for improving outcomes in patients with ACHD-related HF include (i) earlier recognition and referral to centres with combined expertise in ACHD and HF, (ii) increased awareness of arrhythmia and sudden cardiac death risk in this population, (iii) greater collaboration between HF and ACHD specialists at the time of heart transplant assessment, (iv) expert surgical planning to reduce ischaemic time and bleeding risk at the time of transplant, (v) tailored immunosuppression in the post-transplant period and (vi) development and validation of ACHD-specific risk scores to predict mortality and guide patient selection. The purpose of this article is to review current approaches to diagnosing and treating advanced HF in patients with ACHD including indications, contraindications and clinical outcomes after heart transplantation.

  3. Occult intraspinal abnormalities and congenital scoliosis

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Erfani

    2007-06-01

    Full Text Available

    BACKGROUND: Congenital scoliosis occurs because of either the failure of formation or the failure of segmentation or both. Evaluation of the incidence and the types of occult intraspinal abnormalities in congenital scoliosis is the subject of this study.

    METHODS: During a period of 29 years, 103 patients with congenital scoliosis were studied. MRI was used in 46 patients, myelography or CT myelography was used in 64 patients and both MRI and myelography or CT myelography were used in 7 patients for intraspinal abnormalities.

    RESULTS: In the MRI group, among the 46 patients, 19 patients (41.3% had intraspinal abnormalities consisting syringomyelia in 9 (19.5% diastematomyelia in 8 (17.4%, tethered cord syndrome in 6 (13%, low conus in 5 (10.8% and diplomyelia in 3 (6.5% of the patients. In the myelography group, among the 64 patients, 17 (26.5% had intraspinal abnormalities and diastematomyelia was the most common one found in 14 (21.8% patients.

    CONCLUSIONS: Intraspinal abnormalities are frequent in congenital scoliosis. Syringomyelia may be associated with congenital scoliosis. In congenital scoliosis, rib fusion may be an indicator of intraspinal abnormalities in MRI. A significant difference between clinical findings and intraspinal anomalies (P<0.05 was noted. Moreover, we believe that total spinal MRI with coronal, sagittal and axial views is a valuable tool in determining the intraspinal abnormalities in congenital scoliosis. This method is highly

  4. Utilization of the Nursing Process to Foster Clinical Reasoning During a Simulation Experience

    Directory of Open Access Journals (Sweden)

    Amanda Lambie

    2015-11-01

    Full Text Available Nursing practice includes complex reasoning and multifaceted decision making with minimal standardized guidance in how to evaluate this phenomenon among nursing students. Learning outcomes related to the clinical reasoning process among novice baccalaureate nursing students during a simulation experience were evaluated. Nursing process records were utilized to evaluate and foster the development of clinical reasoning in a high-fidelity medical-surgical simulation experience. Students were unable to describe and process pertinent patient information appropriately prior to the simulation experience. Students’ ability to identify pertinent patient cues and plan appropriate patient care improved following the simulation. The learning activity afforded a structured opportunity to identify cues, prioritize the proper course of nursing interventions, and engage in collaboration among peers. The simulation experience provides faculty insight into the students’ clinical reasoning processes, while providing students with a clear framework for successfully accomplishing learning outcomes.

  5. [Zhu Lian's characteristics and experiences in clinical practice of acupuncture and moxibustion].

    Science.gov (United States)

    Wei, Li fu; Pan, Xiaoria; Liu, Bing; Yue, Jin; Zhang, Lijian

    2015-01-01

    This paper aims at discussing the clinical characteristics and experiences of ZHU Lian, the renowned contemporary acupuncture master from the following three aspects: "characteristics of clinical manipulations and techniques", "thoughts on diagnosis and treatment" and "examples of clinical cases". The study has shown that ZHU Lian invented the slow insertion technique by rotating needle and the embedding needle technique, improved moxibustion technique with moxa roll and proposed the three keys on the treatment with acupuncture and moxibustion, as well as discovered new acupoints for treatment. The pioneering and distinguished achievements she con tributed play the great demonstrating and driving role in the development of clinical study and practice of acupuncture and moxibustion.

  6. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  7. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  8. Congenital contractural arachnodactyly.

    Science.gov (United States)

    Bjerkreim, I; Skogland, L B; Trygstad, O

    1976-06-01

    Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.

  9. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  10. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  11. Congenital Heart Information Network

    Science.gov (United States)

    ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  12. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Pavithran K

    1992-01-01

    Full Text Available A case of congenital cutis laxa is reported in a male infant. Heavy wrinkles on the forehead, ectropion of the lower eyelids and sagging of the skin of the cheeks and chin gave the appearance of ar, old man. In spite of extensive skin involvement, the general health of the child remained unaffected.

  13. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  14. Imaging tissue hypoxia: clinical and pre-clinical experience with {sup 123}IAZA

    Energy Technology Data Exchange (ETDEWEB)

    Wiebe, L.I. [University of Alberta, Edmonton (Canada). Noujaim Institute for Pharmaceutical Oncology Research, Faculty of Pharmacy and Pharmaceutical Sciences

    1997-10-01

    The molecular mechanisms that underline the selective binding of iodazomycin arabinoside, IAZA, and related nitromidazoles are reviewed as a basis for interpretation of preclinical and clinical data for hypoxic binding of radioiodinated IAZA. Clinical data are presented for {sup 123}IAZA uptake in a number of pathologies including metastatic tumours, peripheral vascular disease in diabetes, muscle stress and rheumatoid arthritis. The results of studies to determine the influence of tumour type on uptake of {sup 123} I-IAZA in patients with a variety of deep-seated solid tumours will be presented. Correlations of hypoxia-dependent binding with {sup 99m}Tc-HMPAO perfusion images will be reviewed and early correlations of uptake to treatment response in cancer will be presented. Unusual features of {sup 123}I-IAZA biodistribution will also be discussed together with detailed pharmacokinetic and radiation dosimetry data for `2{sup 123}I- IAZA in normal volunteers 27 refs., 1 fig.

  15. CYPBI mutations in portuguese patients with primary congenital glaucoma

    OpenAIRE

    Carvalho, Ana Rita Simões

    2011-01-01

    Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Medicina da Universidade de Coimbra Introduction: Primary congenital glaucoma (PCG) is a rare autosomal recessive trabeculodysgenesis. Genetic heterogeneity has been identified but mutations in the CYP1B1 gene seem to be an important etiology in different populations. Objectives: To clinically characterize 34 Portuguese patients with primary congenital glaucoma, to analyze the role ...

  16. 浅谈经导管介入治疗先天性心脏复合畸形的疗效%Clinical Outcome of Transcatheter Intervention Therapy for Combined Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    李皓亮; 袁义燕

    2014-01-01

    目的:研究观察经导管介入治疗先天性心脏复合畸形的临床疗效,以期为治疗该病提供有利依据。方法:选取2011年3月~2013年3月期间在我院住院治疗的先天性心脏复合畸形患者23例,其中包括2例患者为先天性主动脉缩窄合并动脉导管未闭(patent ductus arteriosus,PDA),3例房间隔缺损(atrial septal defect,ASD)合并肺动脉瓣狭窄(pulmonary stenosis,PS),4例ASD合并PDA,6例VSD合并ASD,8例VSD合并PDA,按照“先复杂后简单,先难后易”的原则根据患者的实际情况采用相应的治疗方法。结果:本组23例患者中除2例患者因缺损过大而放弃封堵外,其余21例患者经导管介入治疗后均痊愈出院,显效率为91.30%。结论:严格掌握先天性心脏复合畸形的介入治疗适应证,选择正常的操作方法与顺序,遵循适当的手术方案,可以通过介入治疗一次性根治。%Objectiv e:Observation of the clinical efficacy of transcatheter interventional therapy for combined congenital heart defects , so as to provide a favorable basis for treatment of this disease .Methods:from 2011 March to 2013 March in our hospital for combined congenital heart malformation in 23cases , including 2 cases of congenital coarctation of the aorta with patent ductus arteriosus ( patent ductus arteriosus , PDA) , 3 cases of atrial septal defect ( atrial septal defect , ASD) with pulmonary artery valve stenosis ( pulmonary ste-nosis, PS) , 4 cases of ASD complicated with PDA , 6 cases of VSD combined with ASD , 8 cases of VSD with PDA , in accordance with the"first easy , simple to complex"principle according to the actual situation of patients with different therapeutic methods .Results:23 patients, except 2 patients with defect is too large and give up the closure of transcatheter intervention , the other 21 patients were cured , markedly effective rate was 91.30%.Conclusions: the indications of

  17. Clinical application of ultrasound biomicroscopy in the treatment of congenital corneal opacities%超声生物显微镜在先天性角膜混浊诊疗中的应用价值

    Institute of Scientific and Technical Information of China (English)

    李东芳; 赵军; 李滢; 臧新杰; 应良

    2012-01-01

    Objective To investigate the clinical application of ultrasound biomicroscopy in the treatment of congenital corneal opacities.Methods Medical records of 20 eyes (15 patients) with congenital corneal opacity treated at our hospital from July 2004 to November 2011 were retrospectively reviewed.Best corrected visual acuity testing,intraocular pressure testing,slit-lamp anterior segment examination,fundus examination,slit-lamp microscopic photography,B scan examination,and ultrasound biomicroscopy were performed for analysis of complications of congenital corneal opacity and selection of surgical approaches.Results The ultrasound biomicroscopic examination showed that 5 eyes had no Descemet's membrane and corneal endothelium,20 eyes had anterior synechia,5 eyes had aniridia,3 eyes had loss of lens cortex,13 eyes had cataract,14 eyes had closed angle,and 3 eyes had pupillary membrane.14 of 20 eyes received surgical treatment,including penetrating keratoplasty combined with cataract extraction and trabeculectomy (5 eyes),penetrating keratoplasty combined with pupil angioplasty (3 eyes),penetrating keratoplasty combined with cataract extraction (3 eyes),penetrating keratoplasty combined with trabeculectomy (2 eyes),and lamellar keratoplasty (1 eye).Conclusions Ultrasound biomicroscopy is important to guide the diagnosis and treatment of congenital corneal opacity.%目的 探讨超声生物显微镜在治疗先天性角膜混浊的临床应用.方法 回顾分析2004年7月至2011年11月于我院收治的先天性角膜混浊患者15例20只眼,常规行最佳矫正视力检查、眼压检查、裂隙灯眼前节检查、眼底检查、大体照相、B型超声检查、超声生物显微镜检查,分析先天性角膜混浊的并发症及手术方式情况.结果 根据超声生物显微镜检查结果,先天性角膜混浊患者伴有角膜无后弹力膜和内皮层者5只眼,虹膜前粘连(Peter异常)者20只眼,虹膜缺损者5只眼,晶体皮质丢失者3

  18. Clinical Boot Camp: An Innovative Simulation Experience to Prepare Nursing Students for Obstetric and Pediatric Clinicals.

    Science.gov (United States)

    Hogewood, Connie; Smith, Tedra; Etheridge, Sherita; Britt, Sylvia

    2015-01-01

    Obstetric and pediatric patients require unique specialized care not included in traditional adult health education. To prepare nursing students for clinical rotations beginning the second week of class, faculty developed an innovative one-day simulation seminar, the OB/PEDS Boot Camp, in which groups of students rotated through six stations of obstetric and pediatric simulation exercises. This article provides insight on the development and implementation of the OB/PEDS Boot Camp.

  19. 胎儿先天性心脏病超声筛查的体会及高危因素分析%The Experiences of Fetal Congenital Heart Disease by Ultrasound Screening and Analysis of High Risk Facrors

    Institute of Scientific and Technical Information of China (English)

    郭宁; 王玲

    2012-01-01

    Objective To summarize the experiences of diagnosis of fetal congenital heart disease by echocardio-graphy and analyze the high risk factors of fetal heart disease. Methods 6 129 fetal echocardigrams were made in pregnant women (including 2 022 cases with high risk factors) by seven-views order analysis method. The ultrasound diagnoses of fetal congenial heart disease were compared to autopsy or postnatal examination. The 12 high risk factors of fetal heart disease were analyzed. Results 101 cases (including 64 cases with high risk factors) of fetal congenital heart disease (arrhythmia not including) were diagnosed by ultrasound, 100 cases were confirmed by follow up, 2 atri-al septal defect cases were misdiagnosed. 11 screening high risk factors were the independent risk factors for fetal congenital heart disease. Conclusions Fetal echocardiography has a high diagnostic accuracy. According to the high risk factors of fetal congenital heart disease, we can early screening, diagnosis and intervention fetal heart disease.%目的 总结胎儿先天性心脏病产前超声筛查的体会,分析筛查的高危因素.方法 采用七切面顺序分段法对6 129例胎儿(其中2 022例有筛查高危因素)进行心脏检查.先天性心脏病超声诊断结果与引产后尸体解剖或出生后随访结果进行对照,并采用Lgistic回归分析对筛查的12个高危因素进行分析.结果 超声筛查出101例胎儿(其中64例有筛查高危因素)先天性心脏结构异常(不包括心律失常).100例获得随访,误诊房间隔缺损2例.12个高危因素中有11个是筛查胎儿先天性心脏病的独立危险因素.结论 彩色多普勒超声心动图是诊断胎儿先天性心脏病比较准确和安全的影像学方法,根据胎儿先天性心脏病超声筛查的高危因素,可以早期筛查、诊断及干预,以减少先天性心脏病患儿的出生及其不良预后.

  20. Nursing faculty teaching a module in clinical skills to medical students: a Lebanese experience

    Science.gov (United States)

    Abdallah, Bahia; Irani, Jihad; Sailian, Silva Dakessian; Gebran, Vicky George; Rizk, Ursula

    2014-01-01

    Nursing faculty teaching medical students a module in clinical skills is a relatively new trend. Collaboration in education among medical and nursing professions can improve students’ performance in clinical skills and consequently positively impact the quality of care delivery. In 2011, the Faculty of Medicine in collaboration with the Faculty of Health Sciences at the University of Balamand, Beirut, Lebanon, launched a module in clinical skills as part of clinical skills teaching to first-year medical students. The module is prepared and delivered by nursing faculty in a laboratory setting. It consists of informative lectures as well as hands-on clinical practice. The clinical competencies taught are hand-washing, medication administration, intravenous initiation and removal, and nasogastric tube insertion and removal. Around sixty-five medical students attend this module every year. A Likert scale-based questionnaire is used to evaluate their experience. Medical students agree that the module provides adequate opportunities to enhance clinical skills and knowledge and favor cross-professional education between nursing and medical disciplines. Most of the respondents report that this experience prepares them better for clinical rotations while increasing their confidence and decreasing anxiety level. Medical students highly appreciate the nursing faculties’ expertise and perceive them as knowledgeable and resourceful. Nursing faculty participating in medical students’ skills teaching is well perceived, has a positive impact, and shows nurses are proficient teachers to medical students. Cross professional education is an attractive model when it comes to teaching clinical skills in medical school. PMID:25419165

  1. Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor: clinical evaluation and molecular characterization of a novel mutation.

    Directory of Open Access Journals (Sweden)

    Frédéric Brioude

    Full Text Available CONTEXT: KISS1R mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH (OMIM #146110. OBJECTIVE: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to 2 unrelated families, and to functionally characterize a novel KISS1R mutation. RESULTS: An original mutant, p.Tyr313His, was found in the homozygous state in 3 affected kindred (2 females and 1 male from a consanguineous Portuguese family. This mutation, located in the seventh transmembrane domain, affects a highly conserved amino acid, perturbs the conformation of the transmembrane segment, and impairs MAP kinase signaling and intracellular calcium release. In the second family, a French Caucasian male patient with nCHH was found to carry two recurrent mutations in the compound heterozygous state (p.Leu102Pro/Stop399Arg. In this man, pulsatile GnRH (Gonadotropin Releasing Hormone administration restored pulsatile LH (Luteinizing Hormone secretion and testicular hormone secretion. Later, long-term combined gonadotropin therapy induced spermatogenesis, enabling 3 successive pregnancies that resulted in 2 miscarriages and the birth of a healthy boy. CONCLUSION: We show that a novel loss-of-function mutation (p.Tyr313His in the KISS1R gene can cause familial nCHH, revealing the crucial role of this amino acid in KISS1R function. The observed restoration of gonadotropin secretion by exogenous GnRH administration further supports, in humans, the hypothalamic origin of the gonadotropin deficiency in this genetic form of nCHH.

  2. Neonatal lupus: clinical features and risk of congenital cardiac heart block in newborns from mothers with anti Ro/SSA antibodies

    Directory of Open Access Journals (Sweden)

    C. Biasini Rebaioli

    2011-09-01

    Full Text Available Objective: To assess the prevalence of Congenital Heart Block (CHB in newborns from anti Ro/SS-A antibodies positive mothers affected by connective tissue diseases (CTD and to evaluate the prevalence of other manifestations of Neonatal Lupus (NL and the electrocardiographic abnormalities. Methods: A prospective study was conducted on 100 anti Ro/SS-A positive mothers that were followed before and during their 118 pregnancies (4 twin pregnancies and 18 second pregnancies. Counterimmunoelectroforesis (CIE and immunoblot (IB were used to test antibodies to extractable nuclear antigens (ENA. Results: Only 2 cases of CHB (1.8% were found among the 112 living newborns. In one case the mother with primary Sjögren’s Syndrome (pSS was anti Ro 60 and 52kD positive while in the other case the mother affected by undifferentiated connective tissue disease (UCTD was anti Ro 60kD and anti La positive. No fetal death was due to CHB. There were no cutaneous rashes at birth while mild hepatic enzyme alterations were observed in 21 (68% of the 31 tested newborns. In 22 healthy newborns an ECG have been registered and in 4 cases (18.2% sinus bradycardia was found. During the follow up 7 suckling showed Cutaneous Neonatal Lupus. Moreover a six month girl developed Kawasaki Syndrome. Conclusions: The risk of delivering a child with CHB is 1.8% in anti Ro/SS-A positive mothers with CTD. This finding is extremely important in the preconceptional counseling of anti-Ro/SS-A positive women. Furthermore mild electrocardiographic abnormalities may be found in their healthy newborns.

  3. Clinical and hematological features of congenital dyserythropoietic anemia type Ⅰ%先天性红细胞生成异常性贫血Ⅰ型临床及血液学特征

    Institute of Scientific and Technical Information of China (English)

    王慧君; 张凤奎; 张莉; 周康; 井丽萍; 杨栋林; 李洪强; 刘庆国; 茹永新; 储榆林

    2009-01-01

    Objective To analyze the clinical and laboratory features of patients with congenital dys-erythropoietic anemia type Ⅰ (CDA-Ⅰ), and improve the clinical diagnostic accuracy. Methods The clin-ical and hematological features of 5 patients diagnosed as CDA-Ⅰ in our hospital between July 2002 and July 2007 were analyzed retrospectively, and the related literatures was reviewed. Results Five CDA-Ⅰ pa-tients, 1 male and 4 females, all had a long history of varied degree of chronic anemia. One patient had con-genital malformations, 3 jaundice and 4 hepatosplenomegaly. Bone marrow specimens invariably showed hy-percellularity due to erythroid hyperplasia with megaloblastoid changes, irregularly shaped nuclear, and chro-matin bridges in 0.2% to 0.6% of all erythroblasts. All the 5 patients' bone marrow erythroblasts showed spongy heterochromatin appearances(swiss-cheese) with electron microscopy examination. There was no mor-phologic abnormality in the granulocytes and megakaryocytes. Serum ferritin levels were increased in 3/4 pa-tients. One patient had been misdiagnosed as hereditary spherocytosis and performed splenectomy in the local hospital with no improvement in Hb level. Conclusions CDA-Ⅰ is a rare congenital anemia characterized by ineffective erythropoiesis, jaundice, hepatosplenomegaly and iron overload, and may be misdiagnosed. Keeping these manifestations in mind should avoid misdiagnosis.%目的 分析先天性红细胞生成异常性贫血Ⅰ型(CDA-Ⅰ)的临床及实验室特征,以提高对该病的认识.方法 对5例CDA-Ⅰ患者的临床表现、血液学检查结果及药物治疗反应结合文献进行同顾性分析.结果 5例患者中男1例,女4例,中位年龄31(17~39)岁.均幼年发病,长期贫血,1例发育畸形,3例伴有黄疸,4例脾肿大.骨髓有核细胞增生明显活跃,红系比例增高,巨幼样变,幼红细胞间可见核间桥;粒系、巨核系细胞形态无特殊改变.幼红细胞胞核呈瑞士奶酪样特

  4. Clinical Congenital Middle Ear Malformation and Its Relationship with Hearing Loss%先天性中耳畸形的临床分型及其与耳聋的相关性研究

    Institute of Scientific and Technical Information of China (English)

    王霞

    2015-01-01

    目的:探讨先天性中耳畸形的临床分型及其与耳聋的相关性。方法将我院入院治疗的42例(62耳)先天性中耳畸形患者纳入本研究,对本组患者均进行详细的手术检查,分析患者中耳畸形状态。结果经过记性检查,可能有听骨链畸形表现,还有面神经骨管暴露与面神经异常的表现。本组听力学检查结果显示本组患者主要为锤砧骨畸形(31例),11例未蜗窗畸形与前庭窗畸形,11例患者畸形程度相对复杂,伴随走形异常与面神经结构异常。结论先天性中耳畸形根据其组织的来源,可以分为不同的类型,在临床研究中需要分析高频与听阈问题,结合CT检查结果与骨导变化结果进行分析,这能够为合理手术提供合理的临床依据,提升治疗的安全性。%Objective To investigate the correlation between the clinical classification of congenital malformation of the middle ear and hearing loss.Methods In our hospital, 42 cases of hospitalized patients (62 ears) were included in the study of patients with congenital malformation of the middle ear, for this group of patients were examined with the operation, analysis of patients with middle ear malformation state.Results after a check, there may be the ossicular chain deformity, and facial nerve canal and facial nerve exposed to abnormal performance. Results Showed that the group of audiological examination were mainly for the hammer incus deformity (31 cases), 11 cases without cochlear window deformity and vestibular window deformity, 11 cases of patients with deformity complicated with abnormal shape, facial nerve and abnormal structure.Conclusion Congenital middle ear malformation according to the source of its organization, can be divided into different types, in clinical research needs analysis of high frequency and threshold problem, combined with the results of CT and bone changes were analyzed, which can provide the basis for

  5. 先天性肝纤维化47例临床及病理特点分析%Clinical and Pathological Features Analysis of 47 Cases of Congenital Hepatic Fibrosis

    Institute of Scientific and Technical Information of China (English)

    马雪梅; 李捍卫; 任辉; 郭晓东; 吴勤; 金波; 文凤; 孟繁平; 申力军; 刘博

    2012-01-01

    目的:分析先天性肝纤维化的临床及病理特点.方法:回顾性分析2008年1月-2012年8月在解放军第302医院住院治疗、资料完整的先天性肝纤维化患者的临床及病理资料.结果:先天性肝纤维化47例,男女比例25:22,平均发病年龄17.85±12.49岁,临床以门脉高压症表现为主,肝功能无明显减退,主要并发症为腹水及上消化道出血,45例肝组织病理主要表现为肝细胞板排列基本正常,汇管区增宽,炎细胞浸润不明显,较致密的纤维间隔穿插、包绕大致正常的肝实质,但不形成典型的假小叶,可伴有小胆管增生、扩张和畸形,其中35.6%伴有calori病.结论:先天性肝纤维化多以青少年时期起病,无明显性别差异,门脉高压与肝功能损害不一致,可伴有calori病,确诊需经肝组织病理学检查.%Objective: To analyze the clinical and pathological features of congenital hepatic fibrosis(CHF). Methods: Clinical and pathological features of 47 cases of congenital hepatic fibrosis in the 302 hospital of PLA from January 2008 to August 2012 were retrospectively studied. Results: There were 25 male and 22 female patients with mean age of 17.85± 12.49 years old. The main clinical manifestations of CHF was portal hypertension and liver function test had no obvious decline.The main complications were ascites and hemorrhage of upper digestive tract. The main pathologic features of 45 cases of CHF showed that normally arranged hepatocytes were encompassed or intruded by the densely and non-inflammation collagenized septa, or hepatic plates were arrayed by fiber bundles with broaded periportal zone. No typical pseudolobule structure were found. Some cases showed small bile duct proliferation , expansion and deformity, 35.6% of them with Calori disease. Conclusions:Congenital hepatic fibrosis usually presents in adolescent or young adulthood without significant gender difference. Portal hypertension and liver function damage are

  6. Congenital cutaneous histiocytosis in a piglet.

    Science.gov (United States)

    Hélie, P; Kiupel, M; Drolet, R

    2014-07-01

    A 2-week-old crossbred male piglet with numerous congenital, variably sized macules, plaques, and papules distributed all over the body was submitted for necropsy. Significant gross and histological lesions were restricted to the skin. On light microscopic examination, these cutaneous lesions corresponded to dermal and/or subcutaneous masses composed of spindle-shaped to round cells that multifocally contained hemosiderin; epidermotropism was not observed. Immunohistochemically, the neoplastic cells were strongly positive for CD204; moderately positive for CD163, lysozyme, and vimentin; and negative for Mac 387, α-1-antitrypsin, S-100 protein and E-cadherin; frozen tissues were not available for CD1a and CD11c. Transmission electron microscopic examination of sections from formalin-fixed tissues did not reveal Birbeck's granules. The clinical, morphological, and immunohistochemical results were consistent with a congenital cutaneous histiocytosis of non-Langerhans cell origin. The condition most resembled juvenile xanthogranuloma in humans, a generally skin-limited non-Langerhans histiocytic disorder that can be congenital. Cutaneous and/or systemic histiocytic disorders are well characterized in dogs and have been described in cats, and a case with some similarities to ours has been reported in a neonatal piglet, but this is to our knowledge the first immunohistochemically supported report of histiocytosis in the pig and congenital histiocytosis in animals.

  7. Expertise in Clinical Psychology. The Effects of University Training and Practical Experience on Expertise in Clinical Psychology

    OpenAIRE

    Vollmer, Sabine; Spada, Hans; Caspar, Franz; Burri, Salome

    2013-01-01

    How do university training and subsequent practical experience affect expertise in clinical psychology? To answer this question we developed methods to assess psychological knowledge and the competence to diagnose, construct case conceptualizations, and plan psychotherapeutic treatment: a knowledge test and short case studies in a first study, and a complex, dynamically evolving case study in the second study. In our cross-sectional studies, psychology students, trainees in a certified postgr...

  8. What students really learn: contrasting medical and nursing students' experiences of the clinical learning environment.

    Science.gov (United States)

    Liljedahl, Matilda; Boman, Lena Engqvist; Fält, Charlotte Porthén; Bolander Laksov, Klara

    2015-08-01

    This paper explores and contrasts undergraduate medical and nursing students' experiences of the clinical learning environment. Using a sociocultural perspective of learning and an interpretative approach, 15 in-depth interviews with medical and nursing students were analysed with content analysis. Students' experiences are described using a framework of 'before', 'during' and 'after' clinical placements. Three major themes emerged from the analysis, contrasting the medical and nursing students' experiences of the clinical learning environment: (1) expectations of the placement; (2) relationship with the supervisor; and (3) focus of learning. The findings offer an increased understanding of how medical and nursing students learn in the clinical setting; they also show that the clinical learning environment contributes to the socialisation process of students not only into their future profession, but also into their role as learners. Differences between the two professions should be taken into consideration when designing interprofessional learning activities. Also, the findings can be used as a tool for clinical supervisors in the reflection on how student learning in the clinical learning environment can be improved.

  9. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  10. A Rare Case of Congenital Diabetes Insipidus

    OpenAIRE

    Tanvi eRege; Srujana ePolsani; Belinda eJim

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydipsia, dehydration, and hypernatremia. They are generally more severely in affected males but present va...

  11. A Rare Case of Congenital Diabetes Insipidus

    OpenAIRE

    Rege, Tanvi; Polsani, Srujana; Jim, Belinda

    2015-01-01

    Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydispsia, dehydration, and hypernatremia. They are generally more severely in affected males but present va...

  12. [Congenital muscular dystrophies in children].

    Science.gov (United States)

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  13. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.

    Science.gov (United States)

    Zarate, Yuri A; Shur, Natasha; Robin, Andrew; Garnica, Adolfo D; Quintos, Jose Bernardo; Schaefer, G Bradley

    2014-09-01

    Congenital hyperinsulinism (CHI) is a rare metabolic disease characterized by inappropriate insulin secretion in the presence of hypoglycemia. We describe the clinical presentation and management of congenital hyperinsulinism and persistent hypoglycemia in two infants. Both patients had an initial clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) but normal methylation analysis for LIT1 and H19 status. Both patients were eventually found to have mosaic uniparental disomy 11p diagnosed by single nucleotide polymorphism (SNP) array in DNA isolated from lymphoblasts and fibroblasts, respectively. We report that patients with mosaic BWS are at increased risk for both transient and refractory hypoglycemia that may need aggressive management with diazoxide, octreotide, high glucose infusion rates, and a frequent feeding regime. Our patient experience supports the case for pursuing further testing in patients with features of BWS with normal methylation studies, karyotype, and SNP arrays on blood. The next logical step is SNP array on skin biopsy to rule out mosaicism.

  14. Ultrasonographic diagnosis and clinical prognosis of fetal congenital diseases of the lung%胎儿肺部病变产前超声表现与临床预后

    Institute of Scientific and Technical Information of China (English)

    姜小力; 邓学东; 凌晨; 唐亚奇; 梁泓

    2012-01-01

    examination is a reliable method for the diagnosis of fetal congenital lung disease , and enable the prediction of clinical prognosis of the affected fetuses. If the fetus had heart and mediustinum displacement , hydrops or chromosomal abnormalities , termination should be considered.%目的 探讨胎儿肺部病变超声声像图特征及临床预后与转归.方法 对49例肺部病变胎儿的产前超声声像图特征及临床随访资料进行回顾性分析.结果 49例肺部病变胎儿产前超声表现及临床结局:(1)先天性肺囊腺瘤畸形21例(42.9%,21/49),超声表现为混合性回声内见多个大小不等的无回声区或增强回声团块.其中15例引产后病理证实为先天性肺囊腺瘤畸形,1例出生后新生儿死亡,5例于孕37周前肺部肿块消失.(2)隔离肺12例(24.5%,12/49),超声主要表现为胎儿胸腔内均质增强回声的楔形包块.其中3例引产后病理证实为隔离肺;3例于孕36周前肺部肿块消失;6例活产后经MRI或手术病理证实病灶仍存在.(3)先天性膈疝9例(18.4%,9/49),超声表现为胸腔内见腹腔脏器.其中7例引产(1例合并18-三体),1例出生后新生儿死亡,1例活产,产后手术存活.(4)胸腔积液5例(10.2%,5/49),超声表现为胸腔内无回声区,其中4例引产(分别合并有21-三体、胎儿水肿、Turner综合征、大量腹腔积液),1例于孕34周时胸腔积液消失.(5)肺缺如2例(4.1%,2/49),超声表现为肺叶缺失,其中左、右肺叶缺如各1例,均选择引产.结论 超声检查是检出胎儿肺部病变的可靠方法,可从超声观察角度预测肺内病变胎儿的临床预后与转归;胎儿纵隔和心脏移位、胎儿水肿或合并染色体异常是终止妊娠的指征.

  15. A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

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    Yanan Zhu

    Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.

  16. An integrated diagnosis strategy for congenital myopathies.

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    Johann Böhm

    Full Text Available Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor mutations in six patients and NEB (nebulin mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.

  17. Why prevent, diagnose and treat congenital toxoplasmosis?

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    Rima McLeod

    2009-03-01

    Full Text Available Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: anti-parasitic agents abrogate Toxoplasma gondiitachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis.

  18. Frecuencia y tendencia temporal de los defectos congénitos en Asturias: La necesidad de la vigilancia clinicoepidemiológica Prevalence and secular trend of congenital defects in Asturias, Spain: The need for clinical-epidemiological surveillance

    Directory of Open Access Journals (Sweden)

    Carmen Mosquera Tenreiro

    2009-08-01

    fifth years of life in Asturias. These anomalies generate substantial morbidity. The aim of the present study was to describe the population-based frequency of congenital defects in Asturias and their forms of presentation. Methods: Data from the population-based Registry of Congenital Defects of Asturias for 1990-2004 were analyzed. The data related to live births, stillbirths and induced abortions after prenatal diagnosis and are presented as birth prevalence and total prevalence (including induced abortions. Results: The total number of births was 103,452 and there were 3,035 cases of congenital defects, representing a total prevalence of 2.9 cases per 100 births and a birth prevalence of 2.5%. These figures showed a tendency to increase throughout the study period. A total of 2,516 (82.9% cases were live births, 46 (1.5% were stillbirths and 473 (15.6% were induced abortions. Prenatal diagnosis increased throughout the period. Sixtythree percent of total cases showed an isolated defect, 17% a recognized syndrome and the remaining 20% had multiple malformations without a syndromic pattern. The most frequent and severe defects registered were neural tube defects (12.2 per 10,000 births, chromosomal abnormalities (34.4 per 10,000, and cardiac defects (75.2 per 10,000. Conclusions: The 15-year experience of the Registry of Congenital Defects of Asturias reveals the utility of this type of database to evaluate prenatal screening programs, plan the resources needed in affected pregnant women and infants, and perform epidemiological surveillance of congenital defects in relation to environmental risks, drug exposure and assisted reproduction techniques.

  19. Experiences of Male Nursing Students during Clinical Training in Maternal Nursing

    OpenAIRE

    川村, 千恵子; 井端, 美奈子; 田原, 町子; Kawamura, Chieko; IBATA, Minako; Tahara, Machiko

    2004-01-01

    The purpose of this study was to explore experiences of male nursing students. Content analysis was used as the study methodology. Data were collected from questionnaires and semi-structured interviews with 5 male nursing students before and after clinical training in Maternal Nursing. Five core categories were extracted before and after the clinical training, and one category was extracted afterwards. The five categories were as follows: fear of an accident happening and disturbance in learn...

  20. Comparison of treatment effects between animal experiments and clinical trials: systematic review

    OpenAIRE

    2006-01-01

    Objective To examine concordance between treatment effects in animal experiments and clinical trials.Study design Systematic review.Data sources Medline, Embase, SIGLE, NTIS, Science Citation Index, CAB, BIOSIS.Study selection Animal studies for interventions with unambiguous evidence of a treatment effect (benefit or harm) in clinical trials: head injury, antifibrinolytics in haemorrhage, thrombolysis in acute ischaemic stroke, tirilazad in acute ischaemic stroke, antenatal corticosteroids t...

  1. Six-Year Experience of a Nurse-Led Colorectal Cancer Follow-Up Clinic

    OpenAIRE

    2014-01-01

    Aims and Objectives. To review the experience of a nurse-led colorectal cancer follow-up clinic in a tertiary referral colorectal cancer centre. Methodology. Data from the nurse-led colorectal cancer follow-up clinic in our unit was prospectively maintained in a colorectal cancer database. Data was analysed from January 1, 2006 until the December 31, 2011. Results. 1125 patients were diagnosed with colorectal cancer, and referred to our unit as a tertiary centre for specialised colorectal can...

  2. Nursing faculty teaching a module in clinical skills to medical students: a Lebanese experience

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    Abdallah B

    2014-11-01

    Full Text Available Bahia Abdallah,1 Jihad Irani,2 Silva Dakessian Sailian,1 Vicky George Gebran,1 Ursula Rizk1 1Nursing Program at the Faculty of Health Sciences, University of Balamand, 2Faculty of Medicine and Medical Sciences, University of Balamand, Beirut, Lebanon Abstract: Nursing faculty teaching medical students a module in clinical skills is a relatively new trend. Collaboration in education among medical and nursing professions can improve students' performance in clinical skills and consequently positively impact the quality of care delivery. In 2011, the Faculty of Medicine in collaboration with the Faculty of Health Sciences at the University of Balamand, Beirut, Lebanon, launched a module in clinical skills as part of clinical skills teaching to first-year medical students. The module is prepared and delivered by nursing faculty in a laboratory setting. It consists of informative lectures as well as hands-on clinical practice. The clinical competencies taught are hand-washing, medication administration, intravenous initiation and removal, and nasogastric tube insertion and removal. Around sixty-five medical students attend this module every year. A Likert scale-based questionnaire is used to evaluate their experience. Medical students agree that the module provides adequate opportunities to enhance clinical skills and knowledge and favor cross-professional education between nursing and medical disciplines. Most of the respondents report that this experience prepares them better for clinical rotations while increasing their confidence and decreasing anxiety level. Medical students highly appreciate the nursing faculties' expertise and perceive them as knowledgeable and resourceful. Nursing faculty participating in medical students' skills teaching is well perceived, has a positive impact, and shows nurses are proficient teachers to medical students. Cross professional education is an attractive model when it comes to teaching clinical skills in

  3. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  4. Congenital Pouch Colon

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    Vivek Gharpure

    2012-07-01

    Full Text Available Face The Examiner:QUESTIONS1. What are the diagnostic features of congenital pouch colon (CPC?Ans: A male patient with CPC often have a wide colovesical fistula and present with anorectal malformation and meconuria; on plain abdominal film, a single large bowel loop occupying more than 50% of the abdominal cavity is also a diagnostic sign. Girls (persistent cloaca/vestibular fistula/anteriorly placed anus etc. often present late with intractable constipation or multiple episodes of enterocolitis and persistent abdominal distension with common cloaca or anterior ectopic anus/ rectovestibular fistula. The congenital pouch colon can be identified as replacement of a part or entire colon in the configuration of pouch that lacks taenia coli, haustrations, appendices epiploicae, abnormal blood supply and a wide fistula with genitourinary system in a patient of anorectal malformation.

  5. Haemodynamic findings on cardiac CT in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea, Republic of)

    2011-02-15

    In patients with congenital heart disease, haemodynamic findings demonstrated on cardiac CT might provide useful hints for understanding the haemodynamics of cardiac defects. In contrast to morphological features depicted on cardiac CT, such haemodynamic findings on cardiac CT have not been comprehensively reviewed in patients with congenital heart disease. This article describes normal haemodynamic phenomena of cardiovascular structures and various abnormal haemodynamic findings with their mechanisms and clinical significance on cardiac CT in patients with congenital heart disease. (orig.)

  6. Congenital scoliosis - Quo vadis?

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    Debnath Ujjwal

    2010-01-01

    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient′s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the

  7. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

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    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  8. Clinical accompaniment: the critical care nursing students’ experiences in a private hospital

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    N. Tsele

    2000-09-01

    Full Text Available The quality of clinical accompaniment of the student enrolled for the post-basic diploma in Medical and Surgical Nursing Science: Critical Care Nursing (General is an important dimension of the educational/learning programme. The clinical accompanist/mentor is responsible for ensuring the student’s compliance with the clinical outcomes of the programme in accordance with the requirements laid down by the Nursing Education Institution and the South African Nursing Council. The purpose of this study was to explore and describe the experiences of the students enrolled for a post-basic diploma in Medical and Surgical Nursing Science: Critical Care Nursing (General, in relation to the clinical accompaniment in a private hospital in Gauteng. An exploratory, descriptive and phenomenological research design was utilised and individual interviews were conducted with the ten students in the research hospital. A content analysis was conducted and the results revealed both positive and negative experiences by the students in the internal and external worlds. The recommendations include the formulation of standards for clinical accompaniment of students. the evaluation of the quality of clinical accompaniment of students and empowerment of the organisation, clinical accompanists/mentors and clinicians.

  9. Use of the experience sampling method in the context of clinical trials

    Science.gov (United States)

    Verhagen, Simone J W; Hasmi, Laila; Drukker, Marjan; van Os, J; Delespaul, Philippe A E G

    2016-01-01

    Objective The experience sampling method (ESM) is a structured diary technique to appraise subjective experiences in daily life. It is applied in psychiatric patients, as well as in patients with somatic illness. Despite the potential of ESM assessment, the improved logistics and its increased administration in research, its use in clinical trials remains limited. This paper introduces ESM for clinical trials in psychiatry and beyond. Methods ESM is an ecologically valid method that yields a comprehensive view of an individual's daily life. It allows the assessment of various constructs (eg, quality of life, psychopathology) and psychological mechanisms (eg, stress-sensitivity, coping). These constructs are difficult to assess using cross-sectional questionnaires. ESM can be applied in treatment monitoring, as an ecological momentary intervention, in clinical trials, or in single case clinical trials. Technological advances (eg, smartphone applications) make its implementation easier. Results Advantages of ESM are highlighted and disadvantages are discussed. Furthermore, the ecological nature of ESM data and its consequences are explored, including the potential pitfalls of ambiguously formulated research questions and the specificities of ESM in statistical analyses. The last section focuses on ESM in relation to clinical trials and discusses its future use in optimising clinical decision-making. Conclusions ESM can be a valuable asset in clinical trial research and should be used more often to study the benefits of treatment in psychiatry and somatic health. PMID:27443678

  10. Congenital portosystemic shunts with and without gastrointestinal bleeding - case series

    Energy Technology Data Exchange (ETDEWEB)

    Gong, Ying; Chen, Jun; Chen, Qi; Ji, Min; Pa, Mier; Qiao, Zhongwei [Children' s Hospital of Fudan University, Department of Radiology, Shanghai (China); Zhu, Hui [Fudan University Shanghai Cancer Center, Department of Radiology, Shanghai (China); Zheng, Shan [Children' s Hospital of Fudan University, Department of Surgery, Shanghai (China)

    2015-12-15

    The clinical presentation of congenital portosystemic shunt is variable and gastrointestinal bleeding is an uncommon presentation. To describe the imaging features of congenital portosystemic shunt as it presented in 11 children with (n = 6) and without gastrointestinal bleeding (n = 5). We performed a retrospective study on a clinical and imaging dataset of 11 children diagnosed with congenital portosystemic shunt. A total of 11 children with congenital portosystemic shunt were included in this study, 7 with extrahepatic portosystemic shunts and 4 with intrahepatic portosystemic shunts. Six patients with gastrointestinal bleeding had an extrahepatic portosystemic shunt, and the imaging results showed that the shunts originated from the splenomesenteric junction (n = 5) or splenic vein (n = 1) and connected to the internal iliac vein. Among the five cases of congenital portosystemic shunt without gastrointestinal bleeding, one case was an extrahepatic portosystemic shunt and the other four were intrahepatic portosystemic shunts. Most congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was uncommon, but the concomitant rate of gastrointestinal bleeding with this type of shunt was high. (orig.)

  11. Clinical observation different operative method in treatment of children with congenital blepharoptosis%不同手术方法治疗儿童先天性重度上睑下垂的临床观察

    Institute of Scientific and Technical Information of China (English)

    于亚东

    2012-01-01

    目的 观察不同的手术方式矫治儿童重度先天性上睑下垂的治疗效果.方法 36例47眼,应用额肌筋膜瓣悬吊术组18例24眼,自体阔筋膜悬吊术组18例23眼,比较两组术后疗效.结果 随访6个月,满意率比较两组无明显差异性(P>0.05).结论 两种方法各有优缺点,对治疗儿童重度上睑下垂均有效.%Objective To observe the clinical effect of different surgical treatment in children severe congenital blepharoptosis. Methods Totally 36 cases of 47 eyes,used forehead myofascial disc sling operation group 18 cases of 24eye,rich autologous fascia of sling operation 18 cases 23 eye,Compared postoperative curative effect of two groups. Results Follow - up 6 months,satisfaction rate was compared between the two groups has no obvious difference. Conclusions Two kinds of method have its advantages and disadvantages,to treating children severe blepharoptosis are valid.

  12. Microtia and congenital aural atresia.

    Science.gov (United States)

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  13. Clinical Outcome and Safety of Multilevel Vertebroplasty: Clinical Experience and Results

    Energy Technology Data Exchange (ETDEWEB)

    Mailli, Leto, E-mail: lmailli@hotmail.com; Filippiadis, Dimitrios K.; Brountzos, Elias N.; Alexopoulou, Efthymia; Kelekis, Nikolaos; Kelekis, Alexios [Attikon University Hospital, Second Department of Radiology, Athens University School of Medicine (Greece)

    2013-02-15

    To compare safety and efficacy of percutaneous vertebroplasty (PVP) when treating up to three vertebrae or more than three vertebrae per session. We prospectively compared two groups of patients with symptomatic vertebral fractures who had no significant response to conservative therapy. Pathologic substrate included osteoporosis (n = 77), metastasis (n = 24), multiple myeloma (n = 13), hemangioma (n = 15), and lymphoma (n = 1). Group A patients (n = 94) underwent PVP of up to three treated vertebrae (n = 188). Group B patients (n = 36) underwent PVP with more than three treated vertebrae per session (n = 220). Decreased pain and improved mobility were recorded the day after surgery and at 12 and 24 months after surgery per clinical evaluation and the use of numeric visual scales (NVS): the Greek Brief Pain Inventory, a linear analogue self-assessment questionnaire, and a World Health Organization questionnaire. Group A presented with a mean pain score of 7.9 {+-} 1.1 NVS units before PVP, which decreased to 2.1 {+-} 1.6, 2.0 {+-} 1.5 and 2.0 {+-} 1.5 NVS units the day after surgery and at 12 and 24 months after surgery, respectively. Group B presented with a mean pain score of 8.1 {+-} 1.3 NVS units before PVP, which decreased to 2.2 {+-} 1.3, 2.0 {+-} 1.5, and 2.1 {+-} 1.6 NVS units the day after surgery and at 12 and 24 months after surgery, respectively. Overall pain decrease and mobility improvement throughout the follow-up period presented no statistical significance neither between the two groups nor between different underlying aetiology. Reported cement leakages presented no statistical significance between the two groups (p = 0.365). PVP is an efficient and safe technique for symptomatic vertebral fractures independently of the vertebrae number treated per session.

  14. The South African Military Nursing College Pupil Enrolled Nurses’ experiences of the clinical learning environment

    Directory of Open Access Journals (Sweden)

    Ernestina M. Caka

    2013-06-01

    Full Text Available The study focused on the clinical learning experiences of Pupil Enrolled Nurses (PENs within the military health service. The purpose of the research was to explore and describe the learning experiences of PENs within the Military health clinical learning environment. An explorative, descriptive, contextual design which is qualitative in nature was used to guide the study. The military as a training institution prides itself on preparing nurses both as soldiers and nurses, this could be both challenging and exasperating for students, as the scopes are diverse. Being notably very hierarchical, the military’s rules constantly take precedence over nursing rules. For the duration of nursing training, students are allocated in the clinical learning area to acquire competencies such as problem solving, cognitive and psychomotor skills (Kuiper & Pesut 2003:383. Students learn how to merge theory and practice and apply theories in the practical sense. This is however, not done in isolation from the military codes, as they are intertwined. Attendance of military parades and drills are incorporated during this phase. This could create missed opportunities from the clinical learning as students are expected to leave the clinical setting for this purpose. Three focus group sessions were conducted and the experiences of the students, as narrated by themselves, yielded valuable insights. The researcher wrote field notes and assisted with the management of the audio tapes for easy retrieval of information. Data was analysed by the researcher, independent of the cocoder. Two themes relating to the PENs’ learning experiences emerged from the data analysed: (1 facilitators of clinical learning, (2 and barriers to clinical learning. The findings obtained depicted those factors which facilitated and obstructed student learning. These findings made it possible for the researcher to make recommendations concerning positive interventions which could be taken to

  15. Clinical analysis of 56 cases of children with congenital biliary dilatation%先天性胆管扩张症56例临床分析

    Institute of Scientific and Technical Information of China (English)

    孙传成; 徐兵

    2011-01-01

    Objective To discuss the diagnosis and treatment of children with congenital biliary dilatation(CBD)Methods From January 2000 to July 2010, data from 56 samples of children with CBD were used for this study. General status, diagnosis, types of CBD and style of surgery were retrospectively analyzed. Results 46.4% of the sampled patients have a outbreak age under 3 years old. The ratio of gender (male:female) was 1:2.5. 21.4% of the children had the three correlated symptoms which are abdominal pain、abdominal mass and jaundice. While 12.5% of the children had fever besides the three correlated symptoms. The children were examined by B - ultrasonic ( B -us), MRCP, CT and the confirmation rates were 92.9% 、96.4% and 81.8 % respectively. All cases were cured by surgical operation except that there was one case dead from bile peritonitis. Conclusion B - us examination, MRCP and CT is the rourine examination to diagnose CBD. The puncture and drainage to treat acute CBD under the guidance of B - type ultrasonography was proved to be a better temporary emergency technique before radical operation. Cystectomy and biliary reconstruction are both effective to treat this disease.%目的 探讨先天性胆扩张症(CBD)的诊断和治疗.方法 对56例14岁以下CBD患儿一般资料、诊断依据、扩张胆管类型和术式进行回顾性分析.结果 本组患儿发病年龄在3岁以下者占46.4%;男女比为1:2.5;具有"三联症"者约占21.4%,具有"四大症状"者约占12.5%;经B超、磁共振胰胆管成像(MRCP)、CT等检查,诊断符合率分别为92.9%、96.4%和81.8%,全部患儿行手术治疗,除1例因术后并发胆汁性腹膜炎死亡,其余55例痊愈.结论 B超、MRCP是诊断CBD的常规检查手段,小儿重症胆总管囊肿先行B超引导下囊肿穿刺置管外引流术是一种较好的临时措施,扩张胆管切除+肝总管空肠Roux-en-Y吻合术是治疗CBD的标准术式.

  16. An Exploration of Dental Students' Assumptions About Community-Based Clinical Experiences.

    Science.gov (United States)

    Major, Nicole; McQuistan, Michelle R

    2016-03-01

    The aim of this study was to ascertain which assumptions dental students recalled feeling prior to beginning community-based clinical experiences and whether those assumptions were fulfilled or challenged. All fourth-year students at the University of Iowa College of Dentistry & Dental Clinics participate in community-based clinical experiences. At the completion of their rotations, they write a guided reflection paper detailing the assumptions they had prior to beginning their rotations and assessing the accuracy of their assumptions. For this qualitative descriptive study, the 218 papers from three classes (2011-13) were analyzed for common themes. The results showed that the students had a variety of assumptions about their rotations. They were apprehensive about working with challenging patients, performing procedures for which they had minimal experience, and working too slowly. In contrast, they looked forward to improving their clinical and patient management skills and knowledge. Other assumptions involved the site (e.g., the equipment/facility would be outdated; protocols/procedures would be similar to the dental school's). Upon reflection, students reported experiences that both fulfilled and challenged their assumptions. Some continued to feel apprehensive about treating certain patient populations, while others found it easier than anticipated. Students were able to treat multiple patients per day, which led to increased speed and patient management skills. However, some reported challenges with time management. Similarly, students were surprised to discover some clinics were new/updated although some had limited instruments and materials. Based on this study's findings about students' recalled assumptions and reflective experiences, educators should consider assessing and addressing their students' assumptions prior to beginning community-based dental education experiences.

  17. Clinical analysis of early complications in patients with severe pulmonary hypertension undergoing congenital heart surgery%先天性心脏病伴重度肺动脉高压术后早期并发症分析

    Institute of Scientific and Technical Information of China (English)

    张文波; 张希; 孙培吾; 殷胜利; 王治平; 唐白云

    2009-01-01

    Objective A clinical analysis of early complications in patients with severe pulmonary hypertension(PH)undergoing congenital heart surgery with cardiopulmonary bypass(CPB)is reported.Methods A retrospective study of 45 patients with severe PH undergoing congenital heart surgery with CPB in our hospital from June 2003 to June 2009 was completed.The cause of death and the major complications in the early postoperative period were discussed.Results The major complications were severe hypoxemia,anoxic spell and low cardiac output.The mortality was 6.67%.The causes of death were all low cardiac output,which manifested decompensation of right ventricular function.By multivariate regression,Hypothermic CPB(OR=0.56;95%CI 0.35-0.89)was a risk factor for severe hypoxemia.Conclusion Early postoperative complications were mainly due to impaired function of heart and lungs,which based upon postoperative PH.Selective postoperative monitoring for pulmonary arterial pressure and right heart function,and prolonged mechanical ventilation for high risk patients may help to guide treatment and to prevent and cure early complications in these patients.%目的 探讨先天性心脏病(CHD)伴重度肺动脉高压(PH)体外循环(CPB)术后早期并发症及处理.方法 对本科2003年6月至2009年6月行CPB手术的45例CHD伴重度PH患者进行回顾分析,讨论术后早期主要并发症和死亡原因.结果 术后早期主要并发症有严重低氧血症(13.33%)、缺氧发作(11.11%)、低心排(6.67%).住院死亡率6.67%,死亡原因均为低心排,主要为右心室功能失代偿.多因素分析显示,低温CPB(OR=0.56;95%CI 0.35-0.89)是严重低氧血症的一个危险因素.结论 术后早期并发症主要由术后PH为基础的心肺功能不全所导致,对术后高危患者动态监测肺动脉压、右心功能和延长呼吸机支持,有助于防治并发症.

  18. 先天性眼外肌纤维化一家系临床分析及手术治疗%Clinical features and surgical treatment on a family with congenital fibrosis of the extraocular muscles

    Institute of Scientific and Technical Information of China (English)

    张剑飞; 王亚丽; 陈静; 乔珊丽

    2014-01-01

    AIM: To investigate the clinical characteristics, surgical outcome and curative effect of congenital fibrosis of the extraocular muscles ( CFEOM) . METHODS: The eye exam of members in a Chinese family with CFEOM includes visual acuity, intraocular pressure, dilated fundus exam, extraocular muscle function test, orbital CT scan, and ultrasound. We did extraocular muscle surgery or frontalis suspension procedure for affected subjects in the family. RESULTS: The incidence of CFEOM in this family was 31%. All patients were affected bilateraly with symptom of congenital eye movement disorder, ptosis, hypotropia, perverted convergence on upgaze and chin up head position. As the age grows, the diseases worsen unobviously. No other systemic disorder was found. Surgical treatment improved the anomalous head position although the ocular movement disorder preserved. CONCLUSION: The pattern of inheritance in our serial patients are autosomal dominant. Surgery can improve chin up head position and cosmetic appearance. However, the eye movement deficiency cannot be improved.%目的:探讨家族性先天性眼外肌纤维化的临床特点、手术治疗方法及疗效。  方法:对先天性眼外肌纤维化家系成员进行眼部的各项检查,包括:视力、眼压、眼底、眼外肌功能、眼眶CT、双眼B超等检查,并对部分患者行斜视矫正术及额肌悬吊术。  结果:该家系眼外肌纤维化发病率为31%。该家系各患者均双眼受累,自幼表现为眼球运动障碍、上睑下垂,眼球位于下转位,向正前方注视时伴有异常辐辏,向前注视抬下颌。随年龄增长病情加重不明显。其他全身系统器官未见异常。经手术治疗,下颌上抬及外观可获得明显改善,眼球运动改善不明显。  结论:该家系具有常染色体显性遗传特征。通过手术治疗可改善头位及外观。眼球运动无明显改善。

  19. Women's Management of Recurrent Bacterial Vaginosis and Experiences of Clinical Care: A Qualitative Study.

    Directory of Open Access Journals (Sweden)

    Jade Bilardi

    Full Text Available Few data are available on how women manage recurring bacterial vaginosis (BV and their experiences of the clinical care of this condition. This study aimed to explore women's recurrent BV management approaches and clinical care experiences, with a view to informing and improving the clinical management of BV.A descriptive, social constructionist approach was chosen as the framework for the study. Thirty-five women of varying sexual orientation who had experienced recurrent BV in the past 5 years took part in semi-structured interviews.The majority of women reported frustration and dissatisfaction with current treatment regimens and low levels of satisfaction with the clinical management of BV. Overall, women disliked taking antibiotics regularly, commonly experienced adverse side effects from treatment and felt frustrated at having symptoms recur quite quickly after treatment. Issues in clinical care included inconsistency in advice, misdiagnosis and inappropriate diagnostic approaches and insensitive or dismissive attitudes. Women were more inclined to report positive clinical experiences with sexual health physicians than primary care providers. Women's frustrations led most to try their own self-help remedies and lifestyle modifications in an attempt to treat symptoms and prevent recurrences, including well-known risk practices such as douching.In the face of considerable uncertainty about the cause of BV, high rates of recurrence, unacceptable treatment options and often insensitive and inconsistent clinical management, women are trying their own self-help remedies and lifestyle modifications to prevent recurrences, often with little effect. Clinical management of BV could be improved through the use of standardised diagnostic approaches, increased sensitivity and understanding of the impact of BV, and the provision of evidence based advice about known BV related risk factors.

  20. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang

    2005-01-01

    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  1. Nursing experience of perioperative period of radical cure through anus of congenital megacolon in children%经肛门根治小儿先天性巨结肠的围术期护理

    Institute of Scientific and Technical Information of China (English)

    李远惠

    2011-01-01

    Objective: To discuss nursing experience of perioperative period of radical cure through anus of congenital dilatation of colon of the wean. Methods: Aborative nursing before surgery and after surgery were carried out to 32 weans megacolon in children. Results: All children got successful radical cure through anus. After 3-6 months's following—up, all of them had good defecate controlling and normal appetite. None of them had anastomotic stricture. Conclusion: Aborative nursing of perioperative period is important for the radical cure of megacolon in children.%目的:探讨经肛门根治小儿先天性巨结肠的围术期护理方法.方法:对32例先天性巨结肠的手术患儿进行精心的术前术后护理.结果:32例患儿均经肛门完成根治手术,术后3~6个月随访,所有患儿排便控制良好,食欲正常,无一例发生吻合口狭窄.结论:精心的围术期护理对经肛门根治先天性巨结肠患儿的康复具有重要意义.

  2. 早期干预对先天性甲状腺功能低下儿童的临床疗效观察%Clinical curative effect observation of early intervention on children with congenital hypothyroidism

    Institute of Scientific and Technical Information of China (English)

    钱晔

    2015-01-01

    Objective:To explore the influence for clinical curative effect of early intervention on children with congenital hypo-thyroidism.Methods:36 cases with congenital hypothyroidism were selected,they were randomly divided into the observation group and the control group with 18 cases in each,two groups were given regular treatment,the control group was given routine nursing, the observation group was given early nursing intervention,we compared the efficacy of the two groups.Results:In the observation group,for children at the age of one,MDI were (11.54 ± 10.5),PDI were (113.5 ± 9.6),height were (76.9 ± 3.4)cm,weight were (10.8±2.0)kg,head circumference were (47.5±2.1)cm,in the control group,for children at the age of one,MDI were (106.5±8.1), PDI were (105.3±8.5),height were (74.5±3)cm,weight were (9.5±1.5)kg,head circumference were (45.2±2)cm,the two groups had statistical significance(P<0.05).Conclusion:Early intervention can significantly improve the intelligence development in-dex(MDI),psychomotor development index(PDI),height,weight,head circumference,improve children's intellectual development and quality of life for children with congenital hypothyroidism.%目的:探讨早期干预对先天性甲状腺功能低下儿童临床疗效的影响。方法:收治先天性甲状腺功能低下患儿36例,随机分成观察组和对照组各18例,两组患儿均给予正规治疗,对照组给予常规护理,观察组进行早期护理干预,比较两组的疗效。结果:观察组患儿1岁时MDI(115.4±10.5),PDI(113.5±9.6),身高(76.9±3.4)cm,体重(10.8±2.0)kg,头围(47.5±2.1)cm;对照组患儿1岁时MDI(106.5±8.1),PDI(105.3±8.5),身高(74.5±3.0)cm,体重(9.5±1.5)kg,头围(45.2±2.0)cm;两组比较,差异有统计学意义(P<0.05)。结论:早期干预可以明显提高先天性甲状腺功能低下儿童智力发育指数(MDI)、心理运动发育指数(PDI)、身高、体重、头围,提高患儿的智力发育和生活质量。

  3. Clinical value analysis of color doppler ultrasound screening for fetal congenital heart disease%彩超筛查胎儿先天性心脏病的临床价值分析

    Institute of Scientific and Technical Information of China (English)

    黄梅; 熊瑜

    2016-01-01

    Objective:To research clinical value of Doppler ultrasound screening for fetal congenital heart disease.Methods:1286 fetal were collected from Jan.2011 to Feb.2015 in our hospital,cases with fetal cardiac abnormalities discovered with color Doppler ultrasound were dynamically observed on postpartum echocardiography,operation and pathology results.Results:20 eases with fetal congenital heart disease were found in 1286 cases through color Doppler ultrasound,of which the aortatransposition with ventricular septal defect in 3 cases,tricuspid valve malformation in 1 case,3 cases is of endoeardial cushiondefect,the method of rockwell quadruple disease in 3 patients,4 cases were large ventricular septal defect,2 cases of atrial septal defects,left ventricular dysplasia in 2 cases,single atrium in 3 cases.23 fishy cases of congenital heart diseasewere confirmed by pathology,including aorta transposition merger ventricular septal defect in 4 cases,4 cases is endocardial cushion defect,the method of rockwell quadruple disease in 3 cases,large ventricular septal defect in 5 cases,2 cases of atrial septal defects,left ventricular dysplasia in 2 cases,single atrium in 3 cases,3 cases were misdiagnosed,diagnosis rate was 86.96%.Conclusion:Color Doppler echocardiography plays an important role in the diagnosis of fetal congenital heart disease,and could make accuratejudgment on the fetal cardiac abnormalities;it is a important imaging method on diagnosis of fetal congenital heart disease in prenatal screening,and shows safe,noninvasive,low cost characters.%目的 探讨彩色多普勒超声(彩超)筛查胎儿先天性心脏病的临床价值.方法 选择2011年1月至2015年2月期间在我院检查的1286例胎儿,对彩色多普勒超声筛查发现的胎儿心脏异常的病例进行动态追踪观察、产后超声心动图检查及追踪手术结果和病理结果,分析统计彩色多普勒超声诊断结果的符合率.结果 1286例胎儿发现先天性心脏病20

  4. Giant Congenital Melanocytic Naevus with Proliferative Nodules Mimicking Congenital Malignant Melanoma: A Case Report and Review of the Literature of Congenital Melanoma

    Directory of Open Access Journals (Sweden)

    Massimiliano Scalvenzi

    2013-01-01

    Full Text Available Congenital malignant melanoma (CMM is a rare condition that is defined as malignant melanoma recognized at birth. CMM may develop in utero in one of three ways: (1 transmission by metastasis through the placenta from a mother with melanoma; (2 primary melanoma arising within a giant congenital melanocytic naevus (GCMN; (3 primary de novo cutaneous CMM arising in utero. CMM can be confused clinically and histologically with benign proliferative melanocytic lesions such as giant congenital nevi. We describe the case of a patient presenting a GCMN with proliferative nodules, clinically and dermoscopically resembling a CMM, demonstrating the importance of caution in making a diagnosis of MM and highlighting the possibility that benign lesions as GCMN can mimic a malignant melanoma in this age group.

  5. Clinical Experience amongst Surgeons in the Asymptomatic Carotid Surgery Trial-1

    NARCIS (Netherlands)

    Huibers, Anne; de Waard, Djurre; Bulbulia, Richard; de Borst, Gert Jan; Halliday, Alison

    2016-01-01

    INTRODUCTION: Hospital volume may influence the outcomes of carotid revascularization, but in trials the effect of the clinical experience of individual surgeons on procedural outcome is less certain. We assessed perioperative event rates amongst centers with different trial entry volumes and also t

  6. Perceptions of Co-Teaching in the Clinical Experience: How Well Is It Working?

    Science.gov (United States)

    Kinne, Lenore J.; Ryan, Carol; Faulkner, Shawn A.

    2016-01-01

    This study examined the perceptions of teacher candidates, cooperating teachers, and university supervisors in the first year of state-mandated co-teaching in the clinical experience. Study results suggest the need (a) to emphasize the importance of the teacher candidate exerting leadership, (b) to develop and communicate specific criteria for…

  7. Preservice Teachers' Reflection on Clinical Experiences: A Comparison of Blog and Final Paper Assignments

    Science.gov (United States)

    Harland, Darci J.; Wondra, Joshua D.

    2011-01-01

    This study focused on the depth of reflection in the writing of preservice teachers who completed end-of-the-semester reflective papers or reflective blogs for undergraduate education courses associated with clinical experiences. Coders rated the depth of reflection as one of four categories: non-reflection, understanding, reflection, or critical…

  8. Reliability of Objective Structured Clinical Examinations: Four Years of Experience in a Surgical Clerkship.

    Science.gov (United States)

    Mann, Karen V.; And Others

    1990-01-01

    Four years of experience with an objective structured clinical examination (OSCE) following an eight-week surgical clerkship (n=356 students) are reported, including data on mean student performance across years, reliability coefficients, and generalizability. Implications for improvement and development of OSCE are discussed. (Author/MSE)

  9. The Working Practices and Clinical Experiences of Paediatric Speech and Language Therapists: A National UK Survey

    Science.gov (United States)

    Pring, Tim; Flood, Emma; Dodd, Barbara; Joffe, Victoria

    2012-01-01

    Background: The majority of speech and language therapists (SLTs) work with children who have speech, language and communication needs. There is limited information about their working practices and clinical experience and their views of how changes to healthcare may impact upon their practice. Aims: To investigate the working practices and…

  10. 同种带瓣管道在儿童先心病治疗中的应用%Early experience with valved homograft conduit for congenital heart disease in children

    Institute of Scientific and Technical Information of China (English)

    陈文生; 蔡振杰; 易定华; 汪钢; 刘维永

    2001-01-01

    Objective:This study is to review the early experience of cryopreserved valved homograft conduit(VHC)for congenital heart disease in children.Methods:Twelve children with congenital heart disease underwent surgical correction and right ventricular outflow tract was reconstructed using VHC from March 1999 to September 2000.The age ranged from 2.2 to 13 years(mean,7.5 years).The body weight ranged from 12.5 to 32 kg(mean,21 kg).The cardiac abnormalities included double outlet right ventricle in 5,truncus arteriosus(Type Ⅰ)in 2,corrected transposition of the great arteries with associated VSD in 2,complete transposition of the great arteries in 1,tetralogy of Fallot in 1,aortic incompetence in 1;the associated intracardiac anomalities included pulmonary stenosis in 9,pulmonary atresia in 1,ASD in 1.VHC implanted in the patients included 2 aortic VHC and 10 pulmonary VHC.Results:There was no operative death.The follow-up is 3 to 19 months(mean,9.5 months).Sudden death occurred in one child 11 months after the operation.All the survivors were in NYHA functional class Ⅰ.Follow-up echocardiography showed that the conduits were in good condition.Conclusion:The satisfactory results indicate that VHC is the ideal material for the treatment of congenital heart disease in children.%目的:报告应用同种带瓣管道(VHC)在儿童先心病治疗中的经验。方法:全组12例患儿男7例,女5例。平均年龄7.5(2.2~13)岁,平均体重21(12.5~32)kg。病种包括右室双出口5例,共同动脉干2例,矫正性大动脉转位合并室缺2例,完全性大动脉转位1例,法乐四联症合并肺动脉闭锁1例,主动脉瓣关闭不全1例。主动脉VHC应用2例,肺动脉VHC应用10例,均用于右室流出道重建。结果:本组病例无手术死亡。平均随访9.5(3~19)个月,死亡1例。存活患儿心功能明显改善,超声心动图检查显示吻合口无狭窄,VHC管腔通畅,瓣膜无明显返流。结论:本

  11. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  12. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions congenital mirror movement disorder congenital mirror movement disorder Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital mirror movement disorder is a condition in which intentional movements of ...

  13. Comprehensive experiment-clinical biochemistry: determination of blood glucose and triglycerides in normal and diabetic rats.

    Science.gov (United States)

    Jiao, Li; Xiujuan, Shi; Juan, Wang; Song, Jia; Lei, Xu; Guotong, Xu; Lixia, Lu

    2015-01-01

    For second year medical students, we redesigned an original laboratory experiment and developed a combined research-teaching clinical biochemistry experiment. Using an established diabetic rat model to detect blood glucose and triglycerides, the students participate in the entire experimental process, which is not normally experienced during a standard clinical biochemistry exercise. The students are not only exposed to techniques and equipment but are also inspired to think more about the biochemical mechanisms of diseases. When linked with lecture topics about the metabolism of carbohydrates and lipids, the students obtain a better understanding of the relevance of abnormal metabolism in relation to diseases. Such understanding provides a solid foundation for the medical students' future research and for other clinical applications.

  14. Social justice as a framework for undergraduate community health clinical experiences in the United States.

    Science.gov (United States)

    Boutain, Doris M

    2008-01-01

    Educating future registered nurses for social justice is an urgent, yet complex undertaking in undergraduate education. Although the need for social justice education is often highlighted, few articles describe practical teaching strategies for ensuring that undertaking. The purpose of this article is to illustrate how a curricular focus on social justice framed and supported the development of a clinical evaluation tool for undergraduate community health clinical experiences. First, social justice is defined and its relationship to baccalaureate nursing education explained. Then a description is provided of how social justice was highlighted in the vision, curriculum, and community health clinical evaluation tool of a College of Nursing. The article subsequently showcases the content and evaluation of students' journal entries about social justice. The development of the social justice component presented in this article may be useful to nurse educators striving to match theory and practice in the evaluation of social justice in students' community health experience.

  15. Congenital Malalignment of the Great Toenail.

    Science.gov (United States)

    Fierro-Arias, Leonel; Morales-Martínez, André; Zazueta-López, Rosa María; Ramírez-Dovala, Silvia; Bonifaz, Alexandro; Ponce-Olivera, Rosa María

    2015-01-01

    Congenital malalignment of the great toenail (CMA) is a disorder of the anatomic orientation of the ungual apparatus, in which the longitudinal axis of the nail plate is not parallel with the axis of the distal phalanx but is deflected sideways. This disorder is understood to arise from multiple factors. Although many theories have been proposed about its origin, its pathogenesis is not fully known. Besides the cosmetic impact, this disorder causes such problems in the medium and long term as onychocryptosis and difficulty in motion. Some cases may regress spontaneously, although persistent cases may require a specialized surgical approach. Congenital malalignment of the great toenail is poorly understood and described medical condition that is often treated incorrectly; thus, reviewing the subject is important. A symptombased clinical classification system is proposed to guide diagnosis and treatment modality decisions.

  16. Congenital epulides: A rare case report

    Directory of Open Access Journals (Sweden)

    Saurabh Kumar

    2014-01-01

    Full Text Available Congenital epulis (CE or "Granular cell epulis" also previously termed as "Neumann′s tumor" is a benign growth arising from the mucosa of the gingiva, typically seen as a mass protruding from the infant′s mouth, often interfering with respiration and feeding. These tumors generally present as a single mass arising from the upper alveolus. We report a rare case of two congenital epulides arising from the maxillary and mandibular alveolus in a day old female infant, which was surgically excised, allowing for early initiation of breast feeding. The tumor cells stained negative for S100 protein hence differentiating from other granular cell tumors. The clinical presentation, differential diagnosis in regard to the various neonatal oral swellings and the management of CE has been discussed.

  17. The experience of graduated midwifery students about clinical education: A phenomenological study

    Directory of Open Access Journals (Sweden)

    R. Shahoei

    2013-06-01

    Full Text Available Introduction: Improvement and promotion of the quality of clinical education requires continuous assessment of the current situation, and also identifying the strengths and weaknesses. Students' views and ideas as learner can help future planning. This study aims to identify the experiences of midwifery graduates about factors affecting their clinical learning. Methods: A qualitative study using phenomenology approach was conducted. Ten midwifery graduates were selected based on purposive sampling and then interviewed. Data were analyzed by thematic analysis. Results: The extracted conceptual codes were classified into several main concepts. There were two main themes factors facilitating learning and factors preventing learning, and seven sub themes performance of instructor, pre-clinical training, students satisfaction, lack of peripheral facilities, lack of coordination of educational planning and behaviors of health care personnel. Conclusion: Trained human resources and equipment for midwifery educational planning are needed to provide a supportive learning atmosphere and promote the quality of clinical learning.

  18. Updating Standard Procedures for Diagnosis and Treatment of Congenital Rubella Case

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    W. Buffolano

    2013-06-01

    Full Text Available Congenital Rubella is the dramatic consequence of rubella during gestation. A combined strategy of Measles and Rubella universal vaccination on children and selective vaccination of susceptible women has been shown effective in the elimination of congenital rubella requiring an incidence of <1 case of CRS per 100,000 live births. Verification processes of rubella elimination require that physicians early and appropriately diagnose all cases of congenital rubella, including those unpatent at birth. The paper highlights clinical and laboratory aspects channeling diagnosis of congenital rubella infection or syndrome even after the first year of life, and the short- and long-term management criteria.

  19. Congenital cystic neck masses: embryology and imaging appearances, with clinicopathological correlation.

    Science.gov (United States)

    Gaddikeri, Santhosh; Vattoth, Surjith; Gaddikeri, Ramya S; Stuart, Royal; Harrison, Keith; Young, Daniel; Bhargava, Puneet

    2014-01-01

    Congenital cystic masses of the neck are uncommon and can present in any age group. Diagnosis of these lesions can be sometimes challenging. Many of these have characteristic locations and imaging findings. The most common of all congenital cystic neck masses is the thyroglossal duct cyst. The other congenital cystic neck masses are branchial cleft cyst, cystic hygroma (lymphangioma), cervical thymic and bronchogenic cysts, and the floor of the mouth lesions including dermoid and epidermoid cysts. In this review, we illustrate the common congenital cystic neck masses including embryology, clinical findings, imaging features, and histopathological findings.

  20. Challenges of the ward round teaching based on the experiences of medical clinical teachers

    Directory of Open Access Journals (Sweden)

    Kamran Soltani Arabshahi

    2015-01-01

    Full Text Available Background: Holding educational sessions in a clinical environment is a major concern for faculty members because of its special difficulties and restrictions. This study attempts to recognize the challenges of the ward round teaching through investigating the experiences of clinical teachers in 2011. Materials and Methods: This qualitative research is carried out through purposive sampling with maximum variation from among the clinical teachers of major departments in Isfahan University of Medical Sciences (9 persons. The sampling continued until data saturation. Data were collected through semi-structured interview and analyzed through Collaizzi method. Data reliability and validity was confirmed through the four aspects of Lincoln and Guba method (credibility, conformability, transferability, and dependability. Results: Three major themes and their related sub-themes (minor themes were found out including the factors related to the triad of clinical teaching (patient, learner, and clinical teacher (concern about patient′s welfare, poor preparation, lack of motivation, ethical problems, factors related to the educational environment (stressful environment, humiliating environment and poor communication and the factors related to the educational system of the clinical environment (poor organizing and arrangement of resources, poor system′s monitoring, bad planning and inadequate resource. Conclusion: Ward round teaching has many concerns for teachers, and this should be recognized and resolved by authorities and teachers. If these problems are not resolved, it would affect the quality of clinical teaching.