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  1. Congenital myopathies: clinical and immunohistochemical study.

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    Thaha, Fazil; Gayathri, N; Nalini, A

    2011-01-01

    Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process. PMID:22234203

  2. Our experience in congenital pouch colon

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    Gharpure Vivek

    2007-01-01

    Full Text Available Congenital pouch colon is considered to be a malformation seen only in north india. we carried out a prospective study of congenital pouch colon from 1991 to 2005 to determine what interventions are most suited for the short and long term management of this compex malformation. anatomical details, procedures and continence outcomes were recorded. patients were managed in a private and public hospital by a single surgeon. 17 patients could be enrolled in the study. we could reconstruct 16/17 patients. with aggressive bowel management, 9/14 patients could achieve continence.

  3. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

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    Akinci, Gulcin; Topaloglu, Haluk; Akinci, Baris; Onay, Huseyin; Karadeniz, Cem; Ergul, Yakup; Demir, Tevfik; Ozcan, Emin Evren; Altay, Canan; Atik, Tahir; Garg, Abhimanyu

    2016-06-01

    Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance. PMID:27167729

  4. [Clinical and MRI Findings in Patients with Congenital Anosmia].

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    Ogawa, Takao; Kato, Tomohisa; Ono, Mayu; Shimizu, Takeshi

    2015-08-01

    The clinical characteristics of 16 patients with congenital anosmia were examined retrospectively. MRI (magnetic resonance imaging) was used to assess the morphological changes in the olfactory bulbs and olfactory sulci according to the method of P. Rombaux (2009). Congenital anosmia was divided into two forms: syndromic forms in association with a syndrome, and isolated forms without evidence of other defects. Only three patients (19%) in our series had syndromic forms of congenital anosmia, such as the Kallmann syndrome. Most cases (13 patients, 81%) had isolated congenital anosmia. Psychophysical testing of the olfactory function included T&T olfactometry and the intravenous Alinamin test, which are widely used in Japan. In T&T olfactometry, detection and recognition thresholds for the five odorants are used to assign a diagnostic category representing the level of olfactory function. Most cases (14 patients, 88%) showed off-scale results on T&T olfactometry, and the Alinamin test resulted in no response in all 11 patients who underwent the test. Abnormal MRI findings of the olfactory bulbs and sulci were detected in 15 of 16 patients (94%). Olfactory bulbs were bilaterally absent in nine patients (56%), and two patients (13%) had unilateral olfactory bulbs. Four patients (25%) had bilateral hypoplastic olfactory bulbs, and only one patient had normal olfactory bulbs (6%). The olfactory sulcus was unilaterally absent in one patient (6%), and nine patients (56%) had bilaterally hypoplastic olfactory sulci. Two patients (13%) had a unilateral normal olfactory sulcus and hypoplastic olfactory sulcus. Three patients (19%) had normal olfactory sulci. Quantitative analysis showed that the volume of olfactory bulbs varied from 0 mm3 to 63.5 mm3, with a mean volume of 10.20 ± 18 mm3, and the mean depth of the olfactory sulcus varied from 0 mm to 12.22 mm, with a mean length of 4.85 ± 4.1 mm. Currently, there is no effective treatment for congenital anosmia. However

  5. Clinical, chromosomal and endocrine studies for congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Severe forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study was to clarify the clinical presentation together with the chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from Children's Hospital, Cairo University, Egypt, for hormonal and chromosomal workup. The age ranged from eight months to 19 years with mean age of 3.18 years. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Severe salt wasting form was present in ten patients whereas simple virilisation was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The sex of rearing was female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was 46,XX in all cases, the diagnosed correct sex was delayed in six cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P), dehydroepiandrosterone sulfate (DHEAS), delta, 4-androstenedione (D4A), testosterone (T) and 11-deoxycortisol were all elevated as compared to controls. It was found that the adrenal androgens DHEAS, D4A and T were more elevated in salt losers when compared to simple virilising patients. However, this difference was statistically non-significant. The present study demonstrates that the clinical examination and laboratory investigations are necessary for the early detection and treatment of these cases to avoid major medical and psychological problems for the patients and their parents

  6. Clinical, Chromosomal and Endocrine Studies for Congenital Adrenal Hyperplasia

    International Nuclear Information System (INIS)

    Several forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study is to throw light on the clinical presentation together with chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from the Diabetic Endocrine Metabolic Pediatric Unit [DEMPU], Children's Hospital, Cairo University for hormonal and chromosomal workup. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Sever salt wasting form was present in ten patients whereas simple virilization was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The mean age was 3.18 years, ranging from eight months to 19 years. The sex of rearing was Female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was (46,XX) in all cases, the correct sex diagnosis was delayed in 6 cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P); Dehydroepiandrosterone sulfate (DHEAS); Delta,4-androstenedione (D 4 A); Testosterone and 11-deoxycortisol were all elevated in relation to controls. We found that the adrenal androgens DHEAS, delta 4A, and T were more elevated in salt losers when compared to simple virilizing patients. However, this difference was not of statistical significance. The present study demonstrates that clinical examination and laboratory investigations are necessary for early detection and treatment of hese cases to avoid major medical and psychological problems for the patients and their parents.

  7. CONGENITAL CRYPTORCHIDISM - ITS ANATOMICAL ASPECTS, EMBRYOGENESIS AND CLINICAL CONSEQUENCES

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    Kalyan Chakravarthi

    2013-01-01

    The testes are a pair of male reproductive organs. The testicular variations are unusual and can result in multiple clinical conditions. Congenital cryptorchidism is a condition in which one or both the testes have not passed down the scrotal sac. During a routine cadaveric dissection of a middle aged male cadaver, in the left side of the pelvic part of the abdomen an unusual undescended testis was noted near the deep inguinal ring. Additional to this we also noted a thick band of ligament co...

  8. 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

  9. 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

  10. The clinical and radiological observation of congenital syphilis

    International Nuclear Information System (INIS)

    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

  11. [Clinical evaluation of congenital cholesteatoma of the middle ear].

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    Kikuchi, Masahiro; Yamamoto, Etsuo; Shinohara, Shogo; Shiomi, Yousaku; Fujiwara, Keizo; Shiomi, Yoshiko; Watanabe, Futoshi; Tanabe, Makito

    2003-08-01

    We conducted a retrospective study to identify the clinical features and surgical observations of congenital cholesteatoma. Sixty patients were diagnosed and underwent surgery for congenital cholesteatoma between April 1987 and May 2002. All diagnoses were made on the basis of two operative findings: 1. the tympanic membrane manifested neither retraction, perforation, nor granulation. 2. the tympanic membrane was not continuous with the cholesteatoma. In this series, congenital cholesteatoma accounted for 7% of all cholesteatomas (853 ears). The patient age ranged from 2 to 48 years. The male to female ratio was 4:1. Seventeen patients had multiple cholesteatoma. Fifty-three patients exhibited closed-type cholesteatomas, while the remaining 7 patients had open-type cholesteatomas that had formed as a flat surface of the epidermis. Patients with open-type cholesteatomas presented with a much more pronounced conductive hearing loss and ossicular erosion or malformation. Twenty-two patients with relatively small cholesteatomas were analyzed to estimate the origin of their cholesteatomas. Of the 22 patients, 13 had anterior superior quadrant (ASQ-type) and 9 had posterior superior quadrant (PSQ-type) cholesteatomas. The mean age at the time of detection was older in the PSQ-type group than in the ASQ-type group and the frequency of ossicular erosion or malformation was more prominent in the PSQ-type group than in the ASQ-type group. The primary site of origin was thought to be the portion between the tympanic ostium of the auditory canal and the semicanal for tensor tympani in the ASQ-type group and near the incudostapedial joint in the PSQ-type group. A planned staged procedure was performed in 29 patients, 15 patients (52%) had residual lesions situated mostly on the oval window, the round window, an exposed facial nerve or an exposed lateral semicircular canal. The frequency of residual lesions in patients who presented with extended, multiple cholesteatoma and

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

    Institute of Scientific and Technical Information of China (English)

    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

  13. Clinical Usefulness of Sonoelastography in Infants With Congenital Muscular Torticollis

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    Hong, Seong Kyung; Song, Jin Won; Woo, Seung Beom; Kim, Jong Min; Kim, Tae Eun

    2016-01-01

    Objective To evaluate the clinical usefulness of sonoelastography in infants with congenital muscular torticollis (CMT). Methods The medical records of 215 infants clinically diagnosed with CMT were retrospectively reviewed. Fifty-three infants met the inclusion criteria as follows: 1) infants diagnosed as CMT with a palpable neck mass before 3 months of age, 2) infants who were evaluated initially by both B-mode ultrasonography and sonoelastography, and 3) infants who had received physical therapy after being diagnosed with CMT. We checked the thickness of the sternocleidomastoid (SCM) muscles in B-mode ultrasonography, strain ratio of the SCM muscles in sonoelastography, and treatment duration. We evaluated the correlation between the treatment duration and the following factors: SCM muscle thickness, ratio of SCM muscle thickness on the affected to unaffected side (A/U ratio), and strain ratio. Results Both the thickness of the affected SCM muscle and the A/U ratio did not show significant correlation with the treatment duration (p=0.66, p=0.90). The strain ratio of the affected SCM muscle was significantly greater than that of the unaffected SCM muscle (prehabilitation outcomes. PMID:26949666

  14. Spectrum of congenital myopathies: A single centre experience

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    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.

  15. Use of an Administrative Database to Determine Clinical Management and Outcomes in Congenital Heart Disease

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    Gutgesell, Howard P.; Hillman, Diane G.; McHugh, Kimberly E.; Dean, Peter; Matherne, G. Paul

    2011-01-01

    We review our 16-year experience using the large, multi-institutional database of the University HealthSystem Consortium to study management and outcomes in congenital heart surgery for hypoplastic left heart syndrome, transposition of the great arteries, and neonatal coarctation. The advantages, limitations, and use of administrative databases by others to study congenital heart surgery are reviewed.

  16. 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

  17. Adult congenital heart disease: experience with the surgical approach

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    Fernando Tadeu Vasconcelos Amaral

    2013-09-01

    Full Text Available OBJECTIVE: To report the institution experience with the surgical treatment of adults with congenital heart disease due to the increasing number of these patients and the need for a better discussion of the subject. METHODS: Retrospective analysis describing demographic data, risk factors and results. RESULTS: 191 patients between 16 and 74 years old were operated on. Primary correction was done in 171 cases, 93 (55% for atrial septal defect repair. Among 20 (12% reoperations, pulmonary valve replacement was done in six cases. The mean intensive care and hospital stay were 2.7 and 8.5 days respectively, significantly greater for the reoperated cases (P=0.001. The mean bypass and clamping times were 68.6 and 44.7 minutes respectively, greater for the reoperated cases (P<0.0001 and P=0.0003 respectively. Hospital mortality was 4.2% and male sex, functional class III-IV and older age at operation were predictive risk factors. Significant complications were more frequent in the reoperated cases (P<0.003, mainly atrial flutter and fibrillation. Among 183 patients discharged, 149 (82% are being followed and atrial flutter and fibrillation are common. The mean functional class value improved significantly after operation (1.66 to 1.11; P<0.0001. The estimated survival was 96.2% in six years. CONCLUSION: Heart surgery in adults with congenital heart disease can be accomplished with low mortality and functional class improvement. Immediate and late complications are frequent. Multicenter studies are important to better characterize this patient population in the country.

  18. CLINICAL STUDY OF CONGENITAL HEART DISEASE IN INFANTS IN TERTIARY CARE HOSPITAL

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    Sandeep V.Harshangi; Laxmi Nagaraj Itagi; Venkatesh Patil; Vijayanath.V

    2013-01-01

    Congenital heart disease are primarily disease of neonates, infants and children. The burden of CHD in India is likely to be enormous due to very high birth rate. The reported incidence is 8-10/ 1000 live births. Objective was to know the pattern of clinical presentation of various congenital heart disease in 0-1 year age group. To study the different form of cyanotic and acyanotic congenital heart disease in present cases. 50 cases of CHD proven by 2D echocardiography were studied for 2 ye...

  19. Bilateral congenital pseudarthrosis of the clavicle report of a case with clinical, radiological and neurophysiological evaluation.

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    Padua, R; Romanini, E; Conti, C; Padua, L; Serra, F

    1999-09-01

    Congenital pseudarthrosis of the clavicle is a rare condition. Bilateral involvement is extremely rare: only seven cases have been reported in the literature. Although the anatomy of the thoracic outlet can be markedly altered by the hypermobility of the shoulder and although few cases with mild symptoms suggesting brachial plexus impairment have been reported, the neurological status of the brachial plexus in congenital pseudarthrosis of the clavicle has not been well assessed. We report a case of bilateral congenital pseudarthrosis of the clavicle in which clinical, neurophysiological and radiological evaluations were performed. PMID:10546362

  20. Congenital dislocation of the patella – clinical case☆

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    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2015-01-01

    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. PMID:26962496

  1. Congenital hypothyroidism in Calabria: epidemiological and clinical aspects

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    Mariangiola Baserga

    2009-12-01

    Full Text Available Neonatal screening of congenital hypothyroidism (CH, carried out on all newborns 3rd -5th day of life, has a very important priority because the incidence of this disease is the highest of all congenital diseases involving brain damage which can be preventable with early specific treatment. In recent years, the values of TSH that were considered pathological were modified and the TSH cut-off, the title of hormone to be taken as the limit of significance for determining a subject suffering from CH, has been progressively lowered. In Calabria the introduction of the new value of TSH cut-off on blood spot, has led to a considerable increase in the frequency of CH, particularly in the case of the thyroid in situ normal ultrasound and of the diagnosis of transitional forms of CH.

  2. Congenital adrenal hyperplasia, CYP21 deficiency, screening and clinical aspects

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    Nordenström, Anna

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is a group of recessively inherited disorders. More than 90% of all cases of CAB are caused by 21-hydroxylase deficiency. This enzyme deficiency results in reduced ability to synthesize cortisol and aldosterone and at the same time increased secretion of androgens. There is a wide spectrum of severity of the disease. The most severe forms of CAH are life-threatening, with the risk of a salt crisis in the neonatal period. CAH has special i...

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

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    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. PMID:26246664

  4. Outcomes of Congenital Cystic Lung Malformations in Children and Their Management According to Clinical Progression

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    Galyagina N.А.

    2014-06-01

    Full Text Available The aim of the investigation was to analyze the outcomes of congenital cystic lung malformations in children in accordance with clinical manifestations in pre- and postnatal period, and justify the management of patients. Materials and Methods. We analyzed retrospectively 45 cases of congenital cystic lung malformations treated over a period from 2005 to 2012 in two main children hospitals in Nizhny Novgorod. Results. Congenital cystic adenomatoid malformation (CCAM is the most common congenital cystic lesion of the lung (60%. Nearly half children with this pathology have no respiratory signs in neonatal period, and in 22.2% cases there are no manifestations in early childhood either. Three cases were found to have spontaneous regression of CCAM. Cystic adenomatoid malformation and solitary congenital cysts have the most favorable prognosis if prenatal lung lesions are early detected and there are no associated congenital malformations. Only 13% children (28.8% required surgical resection of cystic lung malformations. The survival rate of children with cystic lung malformations after surgery was 92.3%. Conclusion. Favorable outcomes of pregnancies with cystic lung diseases constituted the majority (86.7% of cases. Operative treatment is indicated if there are respiratory failure signs or recurrent respiratory infections.

  5. Management of congenital dacryocystocele: report of 3 clinical cases.

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    Rogister, F; Goffart, Y; Daele, J

    2016-01-01

    This case study describes three newborns referred to our otolaryngologic service for investigating and treating a cystic dilatation of the lacrimal duct. These dilatations corresponded to unilateral or bilateral dacryocystoceles, with or without complications. The first newborn exhibited respiratory distress at birth and received early surgery and endoscopic marsupialization of intranasal and bilateral cysts. The second newborn did not show any signs of complications, and after conservative treatment for a week, the cyst spontaneously resolved. The third newborn was diagnosed in utero with ultrasonography, and the cyst resolved spontaneously during childbirth. These cases provided an opportunity to review the pathophysiology of this rare congenital lacrimal anomaly and to note responses to different therapeutic approaches. Indeed, these three cases illustrated three different management approaches, and allowed us to address the issue of prenatal diagnosis. PMID:27097399

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

    OpenAIRE

    Mohammad K. Gandhi; Upendra Rameshbhai Chaudhari; Nilesh Thakor

    2016-01-01

    Background: Congenital malformation represents defects in morphogenesis during early fetal life. Congenital anomalies account for 8-15% of perinatal deaths and 13-16% of neonatal deaths in India. The objective was to study overall and individual incidence and distribution of clinically detectable congenital malformations in newborns delivered at a tertiary hospital. Methods: The present study is a prospective study of all the newborns delivered at Obstetrics and Gynecology Department, New ...

  7. Clinical evaluation of congenital muscular torticollis by using MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Hayashi, Sanshin; Ito, Kuniko; Kogure, Takashi; Shimada, Morio; Tsubuku, Masahiko; Kaneko, Itsuo; Kusama, Kahoru [Toho Univ., Tokyo (Japan). School of Medicine

    1995-11-01

    The usefulness of MRI was investigated in 15 patients, ranging in age from 1 month and 10 days to 24 years and 5 months, with congenital muscular torticollis. Six of them were under 1 year. MR imaging was accomplished with a 1.5 T superconducting system using head coil or anterior-neck coil. For most patients the scanning protocol consisted of axial and coronal T1 weighted image 360/15/4 (TR/TE/excitations) a matrix of 256x192, axial T2 weighted and proton density weighted image 2000/80, 40/2 a matrix of 256x128. Contrast enhancement was performed in 6 patients with Gd-DTPA at a dose of 0.1 mmol/kg. To depict the lesion of the sternocleidomastoid muscle, we order the T1 weighted, T2 weighted and proton density weighted images in 3 grades excellent, good and poor. According to signal intensity of the proton density weighted image, the lesions are classified into 4 types: Type 1, localized high signal intensity; Type 2, reticular pattern of high and low signal intensity; Type 3, reticular pattern of low signal intensity; Type 4, localized low signal intensity. Proton density weighted images provided favorable images in detecting torticollis tumors. During the observation, the signal intensity of the lesions changed from high intensity to low intensity time-dependently. Low aged patients showed higher signal intensity than older patients. Of 6 patients who were under one year old, 3 belonged to type 1 and the remaining 3 belonged to type 2. Of 9 patients who were over 1 year old, 5 belonged to type 3 and 4 belonged to type 4. There was no effect of contrast enhancement for types 3 or 4 because of fibrotic changes. Low signal intensity was considered due to fibrotic change. Therefore if low signal intensity appears, surgery should be conducted. (S.Y.).

  8. Clinical evaluation of congenital muscular torticollis by using MR imaging

    International Nuclear Information System (INIS)

    The usefulness of MRI was investigated in 15 patients, ranging in age from 1 month and 10 days to 24 years and 5 months, with congenital muscular torticollis. Six of them were under 1 year. MR imaging was accomplished with a 1.5 T superconducting system using head coil or anterior-neck coil. For most patients the scanning protocol consisted of axial and coronal T1 weighted image 360/15/4 (TR/TE/excitations) a matrix of 256x192, axial T2 weighted and proton density weighted image 2000/80, 40/2 a matrix of 256x128. Contrast enhancement was performed in 6 patients with Gd-DTPA at a dose of 0.1 mmol/kg. To depict the lesion of the sternocleidomastoid muscle, we order the T1 weighted, T2 weighted and proton density weighted images in 3 grades excellent, good and poor. According to signal intensity of the proton density weighted image, the lesions are classified into 4 types: Type 1, localized high signal intensity; Type 2, reticular pattern of high and low signal intensity; Type 3, reticular pattern of low signal intensity; Type 4, localized low signal intensity. Proton density weighted images provided favorable images in detecting torticollis tumors. During the observation, the signal intensity of the lesions changed from high intensity to low intensity time-dependently. Low aged patients showed higher signal intensity than older patients. Of 6 patients who were under one year old, 3 belonged to type 1 and the remaining 3 belonged to type 2. Of 9 patients who were over 1 year old, 5 belonged to type 3 and 4 belonged to type 4. There was no effect of contrast enhancement for types 3 or 4 because of fibrotic changes. Low signal intensity was considered due to fibrotic change. Therefore if low signal intensity appears, surgery should be conducted. (S.Y.)

  9. 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.

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

    Directory of Open Access Journals (Sweden)

    Ali Shorbagi, Yusuf Bayraktar

    2010-02-01

    Full Text Available 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 range of both inherited and non-inherited disorders, with multiorgan involvement, as a result of ductal plate malformation. Because of the similarities in the clinical picture, it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis, for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems. With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptoms of recurrent cholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension, it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis. In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension. Other associations include the Joubert and Bardet-Biedl syndromes.

  11. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    Science.gov (United States)

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. PMID:26391432

  12. Solvent/detergent plasma: pharmaceutical characteristics and clinical experience.

    Science.gov (United States)

    Liumbruno, Giancarlo Maria; Franchini, Massimo

    2015-01-01

    The solvent/detergent treatment is an established virus inactivation technology that has been industrially applied for manufacturing plasma derived medicinal products for almost 30 years. Solvent/detergent plasma is a pharmaceutical product with standardised content of clotting factors, devoid of antibodies implicated in transfusion-related acute lung injury pathogenesis, and with a very high level of decontamination from transfusion-transmissible infectious agents. Many clinical studies have confirmed its safety and efficacy in the setting of congenital as well as acquired bleeding disorders. This narrative review will focus on the pharmaceutical characteristics of solvent/detergent plasma and the clinical experience with this blood product. PMID:24844804

  13. 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...

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

    OpenAIRE

    Shorbagi, Ali; Bayraktar, Yusuf

    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...

  15. [Experience of extracorporeal membrane oxygenation in critical care of respiratory failure in newborn with congenital diaphragmatic hernia in perinatal center].

    Science.gov (United States)

    Burov, A A; Nikiforov, D V; Podurovskaia, Iu L; Dorofeeva, E I; Abramian, M A; Makhalin, M V; Shatalov, K V; Nikiforov, V S; Degtiarev, D N

    2013-01-01

    The article deals with an experience of veno-arterial extracorporeal membrane oxygenation use in preterm infants with congenital diaphragmatic hernia during postoperative period in the perinatal center. PMID:24749262

  16. 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. PMID:27339777

  17. Coil embolization of a congenital intrahepatic arterioportal fistula: increasing experience in management

    International Nuclear Information System (INIS)

    Congenital intrahepatic arterioportal fistula (IAPF) is a rare condition and there is limited experience of transcatheter embolization. We report here the transcatheter coil embolization of an incidentally found, asymptomatic congenital IAPF in a 16-month-old patient. After demonstrating that the IAPF was fed by two branches of a dilated left hepatic artery and drained into an aneurysm of the left portal vein, the feeding arteries were superselectively catheterized and occluded by microcoils in a single session. Follow-up was uneventful for 1 year. With respect to this and previously reported cases, we believe that embolization of feeding arteries is a safe and effective method that should be the primary choice of treatment; however, further cases should be reported to confirm this belief. (orig.)

  18. 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.

  19. Clinical profile of congenital adrenal hyperplasia and short-term response to treatment

    International Nuclear Information System (INIS)

    To determine the clinical presentation of congenital adrenal hyperplasia and short- term response to treatment. Background: Congenital adrenal hyperplasia (CAH) is a genetic disorder which usually presents with life threatening emergencies. Awareness of physicians regarding these presentations is an essential for early diagnosis and lifesaving treatment. In view of the prevalence of the condition as reported from tertiary care centers within the country and other parts of the globe, we had carried out a study in the paediatric department of Shaheed Mohtrama Benazir Bhutto Medical University Larkana. Material and Methods: The study was conducted over a period of one year from July 2012 to June 2013. All infants presenting with vomiting, dehydration, shock, failure to thrive and ambiguous genitalia were examined and investigated thoroughly. The diagnosis was based upon a raised level of serum 17 OHP in a child with suggestive clinical features. Results: A total of 40 children were diagnosed to have CAH during the study period. The major presenting features were vomiting in 13 (32.5%), ambiguous genitalia 17 (42.5%), vomiting and ambiguous genitalia 10 (25%), shock 5(12.5%) and failure to thrive in 13 (32.5%) of cases. All the patients were followed up after initiation of treatment and good response was observed to short-term treatment. Conclusion: This study highlights the importance of common clinical features like vomiting, unreasonable dehydration, shock and ambiguous genitalia being the presenting features of CAH and the effectiveness of replacement therapy in amending life threatening emergencies due to this condition. (author)

  20. 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.)

  1. Defense mechanisms in congenital and acquired facial disfigurement: a clinical-empirical study.

    Science.gov (United States)

    van den Elzen, Marijke E P; Versnel, Sarah L; Perry, J Christopher; Mathijssen, Irene M J; Duivenvoorden, Hugo J

    2012-04-01

    It is of clinical interest to investigate the degree to which patients with facial disfigurement use defense styles. Therefore, 59 adults born with rare facial clefts, 59 patients with facial deformities acquired at an adult age, and a reference group of 141 adults without facial disfigurements completed standardized questionnaires. There was a significant difference between the group with and the group without disfigurements on immature defense styles, with the disfigured group using the immature style more frequently. There was a trend for the nondisfigured group to use more mature defense styles. No difference between congenital and acquired groups was seen on individual types of defense style. Self-esteem had the strength to differentiate mature and immature defense styles within our disfigured groups. The association of low self-esteem and the utilization of immature defense styles suggests that professional help may tailor treatment on discussing immature defense style and problems triggering or maintaining this style. PMID:22456586

  2. Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features

    International Nuclear Information System (INIS)

    Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF). Because there are a variety of degrees of obstruction and symptoms of CES, it is frequently difficult to make a pre- and post-operative diagnosis of the distal CES associated with EA/TEF. To evaluate the clinical and radiologic features of congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula. We retrospectively reviewed postoperative esophagograms and medical records of 187 children (107 boys, 80 girls) who had primary repair of EA/TEF from 1992 to 2009 at our institution. We evaluated the incidence of CES, clinical findings, radiologic features and management of CES in these children. CES was diagnosed in 22 of 187 EA/TEF children (12%); one child had double CES lesions, for a total of 23 lesions. Ten of those 22 children (45%) had presented with significant symptoms of esophageal obstruction. The diagnosis of CES was delayed in 10 children (45%) until 1-10 years of age. On esophagogram, CES (n = 23) was located in the distal esophagus (n = 20, 87%) or mid-esophagus (n = 3, 13%). The degree of stenosis was severe (n = 6, 26%), moderate (n = 10, 43%), or mild (n = 7, 30%). Eight children, including two with unsuccessful esophageal balloon dilatation of CES, were treated surgically. Histologic examination revealed tracheobronchial remnant (n = 7) or fibromuscular hyperplasia (n = 1). One child with surgically treated CES developed achalasia at the age of 3 years 9 months. Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed. (orig.)

  3. Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Hye Jin; Kim, Woo Sun; Cheon, Jung-Eun; Shin, Su-Mi; Kim, In-One; Yeon, Kyung Mo [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, Seoul (Korea); Yoo, So-Young [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, Seoul (Korea); Sungkyunkwan University School of Medicine, Department of Radiology and Center for Imaging Science, Samsung Medical Center, Seoul (Korea); Park, Kwi-Won; Jung, Sung-Eun [Seoul National University Children' s Hospital, Department of Pediatric Surgery, Seoul (Korea)

    2010-08-15

    Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF). Because there are a variety of degrees of obstruction and symptoms of CES, it is frequently difficult to make a pre- and post-operative diagnosis of the distal CES associated with EA/TEF. To evaluate the clinical and radiologic features of congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula. We retrospectively reviewed postoperative esophagograms and medical records of 187 children (107 boys, 80 girls) who had primary repair of EA/TEF from 1992 to 2009 at our institution. We evaluated the incidence of CES, clinical findings, radiologic features and management of CES in these children. CES was diagnosed in 22 of 187 EA/TEF children (12%); one child had double CES lesions, for a total of 23 lesions. Ten of those 22 children (45%) had presented with significant symptoms of esophageal obstruction. The diagnosis of CES was delayed in 10 children (45%) until 1-10 years of age. On esophagogram, CES (n = 23) was located in the distal esophagus (n = 20, 87%) or mid-esophagus (n = 3, 13%). The degree of stenosis was severe (n = 6, 26%), moderate (n = 10, 43%), or mild (n = 7, 30%). Eight children, including two with unsuccessful esophageal balloon dilatation of CES, were treated surgically. Histologic examination revealed tracheobronchial remnant (n = 7) or fibromuscular hyperplasia (n = 1). One child with surgically treated CES developed achalasia at the age of 3 years 9 months. Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed. (orig.)

  4. [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. PMID:27076244

  5. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

    Full Text Available bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinicof Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life.Results: A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males were recruited during the period between May 2006-2010. Overall, 30 (20% infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1% had congenital cardiac anomalies such as: ASD (n=3, VSD (n=2, PS (n =1, PDA (n=1. Three children (2.6% had developmental displasia of the hip (n=3.Conclusion: The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.

  6. 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.

  7. Sociodemographic and clinical profile of children with congenital heart disease assisted at a hospital institution

    Directory of Open Access Journals (Sweden)

    Mirna Albuquerque Frota

    2014-06-01

    Full Text Available Objective: To characterize the sociodemographic and clinical profile of children with congenital heart disease assisted at a hospital institution. Methods: A descriptive, crosssectional study conducted in the pediatric cardiology outpatient clinic of a hospital in Fortaleza, CE, Brazil, in the period from March to August 2012. It comprised a nonrandom convenience sample of 80 parents of children with heart disease aged 5 to 12 years. Information was obtained from primary data of medical records and through questionnaires covering the parent’s sociodemographic characteristics, family data and the children’s clinical aspects. Results: Regarding socioeconomic data, 77 (96.2% caregivers were female, 50 (62.5% were married or in a stable relationship, 39 (48.7% had 10-12 years of formal education, and 69 (82.6% reported a household income between 1 and 2 minimum wages. In the sample of children studied, 43 (53.8% were female. The median age of the children was 8.4 years, ranging from 5-13 years. As to the age at the heart disease diagnosis, 44 (55% occurred under the age of 6 months, regardless of the type of cardiopathy. It was detected that 19 (23.75% were related to the disease. Conclusion: Children’s caregivers were predominantly their mothers, with low income and satisfactory schooling. Early diagnosis was predominant, mainly among the children with cyanotic cardiopathy. doi:10.5020/18061230.2014.p239

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

    Science.gov (United States)

    Cammack, Jocelyn; Whight, John; Cross, Vinette; Rider, Andrew T; Webster, Andrew R; Stockman, Andrew

    2016-01-01

    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 suitability of filmmaking techniques as a means of accessing and communicating subjective patient experience. PMID:27601873

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

    Directory of Open Access Journals (Sweden)

    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.

  10. Thromboprophylaxis and Outcomes for Total Joint Arthroplasty in Congenital Bleeding Disorders: A Single-Center Experience.

    Science.gov (United States)

    Holderness, Britt M; Goto, Yuika; McKernan, Laurel; Bernini, Philip; Ornstein, Deborah L

    2016-09-01

    Total joint arthroplasty (TJA) improves the quality of life for patients with end-stage osteoarthritis but is associated with an increased risk of venous thromboembolism (VTE), thus pharmacologic thromboprophylaxis is recommended for most patients. Patients with congenital bleeding disorders may develop severe arthropathies due to repeated hemarthroses and derive similar benefit from TJA as the general population. No guidelines for pharmacologic thromboprophylaxis in this population exist, however, as the risks and benefits are not well defined. We undertook the current study to assess the safety and efficacy of pharmacologic VTE prophylaxis in patients with congenital bleeding disorders undergoing TJA. We retrospectively reviewed the medical records of patients with bleeding disorders who underwent TJA at our academic institution between 1987 and 2012. We identified 28 patients who underwent 38 TJA procedures. Low-molecular-weight heparin (LMWH) was administered in 29 procedures (76%) and was discontinued early in 3 procedures (2 patients) due to nonjoint bleeding. No symptomatic VTE was identified, and no joint or deep wound infections were seen. Twenty-two patients accounting for 31 procedures were contacted to discuss their experience with TJA. All reported decreased pain, and 97% reported improved function after the surgery. Impressively, 97% stated that they would choose to have the surgery again. These results confirm the benefit of TJA in patients with congenital bleeding disorders and end-stage arthropathies and suggest that LMWH thromboprophylaxis is safe. No patient in our cohort developed symptomatic VTE, whether or not thromboprophylaxis was administered, thus necessity of thromboprophylaxis remains an unanswered question. PMID:27099385

  11. Clinical application of ECG-gated 256-slice CT angiography for diagnosis of congenital heart disease

    International Nuclear Information System (INIS)

    Objective: To investigate the clinical application of ECG-gated 256-slice CT angiography for diagnosis of congenital heart disease, and to evaluate the relationship of the image quality and radiation dose between prospective ECG-gated and retrospective ECG-gated cardiac CT angiography (CTA). Methods: Sixty patients who doubt congenital heart disease underwent cardiac CTA, and they were randomly divided into two groups. Thirty patients in group A underwent prospective ECG-gated cardiac CTA, and thirty patients in group B underwent retrospective ECG-gated cardiac CTA. Then the homogeneous enhancement of vascular structures, stair-step artifact, overall image quality and radiation dose were evaluated. Results: The homogeneous enhancement of vascular structures were 2.8±0.3 and 2.7±0.6, respectively, in two groups; and there was no statistical significance (P>0.05). The stair-step artifact were 3.0±0.9 and 3.1±0.9, respectively, in two groups; and there was also no statistical significance (P>0.05). The overall image quality were 3.0±0.8 and 3.1±0.9, respectively, in two group; and there was statistical significance (P>0.05). However, the effective dose were (5.24±0.52) mSv and (16.68±1.49) mSv, respectively, in two groups; and there was statistical significance (P<0.001). Conclusion: Compared with retrospective ECG-gated cardiac CTA, prospective ECG-gated cardiac CTA can reduce radiation dose about 68.6% , while maintaining the image quality which could be made diagnosis. (authors)

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

    Directory of Open Access Journals (Sweden)

    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.

  13. Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.

    Science.gov (United States)

    Van Scherpenzeel, Monique; Willems, Esther; Lefeber, Dirk J

    2016-06-01

    Abnormal protein glycosylation is observed in many common disorders like cancer, inflammation, Alzheimer's disease and diabetes. However, the actual use of this information in clinical diagnostics is still very limited. Information is usually derived from analysis of total serum N-glycan profiling methods, whereas the current use of glycoprotein biomarkers in the clinical setting is commonly based on protein levels. It can be envisioned that combining protein levels and their glycan isoforms would increase specificity for early diagnosis and therapy monitoring. To establish diagnostic assays, based on the mass spectrometric analysis of protein-specific glycosylation abnormalities, still many technical improvements have to be made. In addition, clinical validation is equally important as well as an understanding of the genetic and environmental factors that determine the protein-specific glycosylation abnormalities. Important lessons can be learned from the group of monogenic disorders in the glycosylation pathway, the Congenital Disorders of Glycosylation (CDG). Now that more and more genetic defects are being unraveled, we start to learn how genetic factors influence glycomics profiles of individual and total serum proteins. Although only in its initial stages, such studies suggest the importance to establish diagnostic assays for protein-specific glycosylation profiling, and the need to look beyond the single glycoprotein diagnostic test. Here, we review progress in and lessons from genetic disease, and review the increasing opportunities of mass spectrometry to analyze protein glycosylation in the clinical diagnostic setting. Furthermore, we will discuss the possibilities to expand current CDG diagnostics and how this can be used to approach glycoprotein biomarkers for more common diseases. PMID:26739145

  14. Republication: Two Premature Neonates of Congenital Syphilis with Severe Clinical Manifestations.

    Science.gov (United States)

    Akahira-Azuma, Moe; Kubota, Mai; Hosokawa, Shinichi; Kaneshige, Masao; Yasuda, Noriko; Sato, Noriko; Matsushita, Takeji

    2015-09-01

    Congenital syphilis (CS) is a public health burden in both developing and developed countries. We report two cases of CS in premature neonates with severe clinical manifestations; Patient 1 (gestational age 31 weeks, birth weight 1423 g) had disseminated idiopathic coagulation (DIC) while Patient 2 (gestational age 34 weeks and 6 days, birth weight 2299 g) had refractory syphilitic meningitis. Their mothers were single and had neither received antenatal care nor undergone syphilis screening. Both neonates were delivered via an emergency cesarean section and had birth asphyxia and transient tachypnea of newborn. Physical examination revealed massive hepatosplenomegaly. Laboratory testing of maternal and neonatal blood showed increased rapid plasma reagin (RPR) titer and positive Treponema pallidum hemagglutination assay. Diagnosis of CS was further supported by a positive IgM fluorescent treponemal antibody absorption test and large amounts of T. pallidum spirochetes detected in the placenta. Each neonate was initially treated with ampicillin and cefotaxime for early bacterial sepsis/meningitis that coexisted with CS. Patient 1 received fresh frozen plasma and antithrombin III to treat DIC. Patient 2 experienced a relapse of CS during initial antibiotic treatment, necessitating parenteral penicillin G. Treatment was effective in both neonates, as shown by reductions in RPR. Monitoring of growth and neurological development through to age 4 showed no evidence of apparent delay or complications. Without adequate antenatal care and maternal screening tests for infection, CS is difficult for non-specialists to diagnose at birth, because the clinical manifestations are similar to those of neonatal sepsis and meningitis. Ampicillin was insufficient for treating CS and penicillin G was necessary. PMID:26543391

  15. 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.

  16. Maturation and experience in action representation: Bilateral deficits in unilateral congenital amelia.

    Science.gov (United States)

    Philip, B A; Buckon, C; Sienko, S; Aiona, M; Ross, S; Frey, S H

    2015-08-01

    Congenital unilateral absence of the hand (amelia) completely deprives individuals of sensorimotor experiences with their absent effector. The consequences of such deprivation on motor planning abilities are poorly understood. Fourteen patients and matched controls performed two grip selection tasks: 1) overt grip selection (OGS), in which they used their intact hand to grasp a three-dimensional object that appeared in different orientations using the most natural (under-or over-hand) precision grip, and 2) prospective grip selection (PGS), in which they selected the most natural grip for either the intact or absent hand without moving. For the intact hand, we evaluated planning accuracy by comparing concordance between grip preferences expressed in PGS vs. OGS. For the absent hand, we compared PGS responses with OGS responses for the intact hand that had been phase shifted by 180°, thereby accounting for mirror symmetrical biomechanical constraints of the two limbs. Like controls, amelic individuals displayed a consistent preference for less awkward grips in both OGS and PGS. Unexpectedly, however, they were slower and less accurate for PGS based on either the intact or the absent hand. We conclude that direct sensorimotor experience with both hands may be important for the typical development or refinement of effector-specific internal representations of either limb. PMID:26092768

  17. [Clinical and ultrasonic diagnosis of congenital hip dislocation (dynamics of changes in early therapy)].

    Science.gov (United States)

    Poul, J; Procházka, J; Klimsová, J; Janovec, M; Bajerová, J; Jíra, I; Straka, M; Sommernitz, M

    1990-08-01

    The authors present part of their prospective epidemiological study of congenital dysplasia of hip joints within which newborns were examined by ultrasonogram prior to the beginning of the therapy. Apart from the standard examination in the frontal plane after Graf they examined on principle also the ultrasonographic stability by the dynamic test after Schuler as well as by the application of the probe anteriorly with the simultaneous provocation according to Palmén. The authors have processed pathological ultrasonographic findings in 53 newborns (64 hip joints). The technique of the examination by ultrasound from the anterior approach is explained in detail. The comparison of both dynamic tests has shown that the examination from the anterior approach is considerably more sensitive than Schuler's dynamic test and also fully correlates with the clinical finding. It is a fact that the shift of the head in the flexion dorsally represents the most important component of the movement in unstable hip joint during provocation, it is far more noticeable than the lateralization of the head or the shift in the cranial direction. After achieving ultrasonographic stability the classical Graf method is sufficient for the registration of residual changes on the acetabular rim. The follow-up of patients until their complete healing has shown a surprisingly rapid remodellation of hip joints. The whole complex of clinically unstable hip joints has been divided into subgroups according to Graf classification. In type IIc or IId on the basis of ultrasonographic examination from the anterior approach the stable joints from the ultrasonographic viewpoint have been distinguished from unstable ones. The follow-up carried out in short intervals has shown that of longest duration is the remodellation of total dislocation and, on the contrary, of shortest duration is the healing of joints in the IIc or IId type. An absolute majority of affected hip joints have become normal until 3rd

  18. Congenital syphilis in the newborn.

    OpenAIRE

    Chawla, V.; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  19. Validity of Sildenafil Test in Patients with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease According to Clinical and Echocardiographic Parameters

    OpenAIRE

    Akbar Shahmohammadi; Paridokht Nakhostin Davari; Mohammad Yusof Aarabi Mogaddam; Akbar Molaei; Mahmood Meraji

    2009-01-01

    Background: Pulmonary arterial hypertension is a complication of most congenital heart diseases. We sought to assess the effect of sildenafil on patients suffering from pulmonary arterial hypertension in association with congenital heart disease on the basis of clinical and echocardiographic parameters and compare the catheterization and treatment results so as to evaluate the predictive value of sildenafil on the operability of patients. Methods: After primary echocardiography, 21 patients w...

  20. 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

  1. A CLINICAL STUDY ON CONGENITAL ANOMALIES OF BRE A ST IN ROHILKHAND REGION

    Directory of Open Access Journals (Sweden)

    Jagadamba

    2015-01-01

    Full Text Available Congenital anomalies of breast may be unilateral or bilateral, i nvolve either nipple or breast or both. These anomalies may be seen at birth, d uring childhood, a dolescence or during pregnancy. These shall be diagnosed properly and managed accordingly. Most of these anomalies are amenable surgically with excellent results.

  2. New clinical molecular diagnostic methods for congenital and inherited heart disease

    NARCIS (Netherlands)

    Jongbloed, Jan Dh; Pósafalvi, Anna; Kerstjens-Frederikse, Wilhelmina S; Sinke, Richard J; van Tintelen, J Peter

    2011-01-01

    IMPORTANCE OF THE FIELD: For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the di

  3. [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

    Science.gov (United States)

    Eymard, B; Stojkovic, T; Sternberg, D; Richard, P; Nicole, S; Fournier, E; Béhin, A; Laforêt, P; Servais, L; Romero, N; Fardeau, M; Hantaï, D

    2013-02-01

    Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by members of the national French CMS Network: the difficulties in making a proper diagnosis; the course and long-term prognosis; and the response to therapy, especially for CMS that do not respond to cholinesterase inhibitors. CMS diagnosis is late in most cases because of confusion with other entities such as: congenital myopathies, due to the frequent presentation in patients of myopathies such as permanent muscle weakness, atrophy and scoliosis, and the abnormalities of internal structure, diameter and distribution of fibers (type I predominance, type II atrophy) seen on biopsy; seronegative autoimmune myasthenia gravis, when CMS is of late onset; and metabolic myopathy, with the presence of lipidosis in muscle. The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK. Disease-course patterns (progressive worsening, exacerbation, stability, improvement) could be variable throughout life in a given patient. DOK7 patients had the most severe disease course with progressive worsening: of the eight wheelchair-bound and ventilated patients, six had mutations of this gene. Pregnancy was a frequent cause of exacerbation. Anticholinesterase agents are the first-line therapy for CMS patients, except for cases of slow-channel CMS, COLQ and DOK7. In our experience, 3,4-DAP was a useful complement for several patients harboring CMS with AChR loss or RAPSN gene mutations. Ephedrine was given to 18 patients (eight DOK7, five COLQ, four AGRN and one RAPSN). Tolerability was good. Therapeutic responses were encouraging even in the most severely affected patients, particularly with DOK7 and COLQ. Salbutamol was a good alternative in

  4. New clinical experience with tramadol.

    Science.gov (United States)

    Sunshine, A

    1994-01-01

    The analgesic efficacy of tramadol has been recently reassessed as part of a new clinical development programme to support an application for registration in the USA. This article reviews the results of single dose and short term studies of oral tramadol 50, 75, 100 and 150 mg in various acute pain conditions. In a double-blind single dose study conducted in 161 patients with severe pain following caesarean section, tramadol 75 and 150 mg and the combination of paracetamol 650 mg with dextropropoxyphene napsylate 100 mg were shown to be effective and statistically superior to placebo. The results from this and 17 other similar studies in patients with pain after surgery (n = 1594) or dental extraction (n = 1859) including other comparators were included in a pooled analysis. Tramadol 100 mg was the optimal single dose for acute pain and tramadol 50 mg showed similar analgesic efficacy to codeine 60 mg. Multiple dose short term studies (n = 520) with tramadol 50, 75 and 100 mg demonstrated a statistically significant and dose-dependent reduction in the consumption of either ibuprofen or morphine as escape medication. New pharmacokinetic data show that steady-state plasma tramadol concentrations reached after oral administration of 50 mg doses every 6 hours are similar to those obtained after administration of a 100 mg single oral dose (250 micrograms/L). This rationale is supported by the results of long term studies in which the average daily dose of tramadol was approximately 250 mg. PMID:7517826

  5. Evaluation of early and late complications in patients with congenital lobar emphysema: A 12 year experience

    Directory of Open Access Journals (Sweden)

    Nazem Masood

    2010-01-01

    Full Text Available Background: Congenital lobar emphysema (CLE is characterised by over distension of one lobe and pressure on the adjacent lobe and mediastinum. In this study, we review the pathological results of our paediatric patients with CLE, highlighting the early and late complications that occurred in these patients. Patients and Methods: In a prospective study from 1996 to 2008, we evaluated 30 patients with CLE diagnosis. Variables collected included sex, age at the time of diagnosis, radiological diagnostic method, type of treatment, pathological analysis, surgical findings and early postoperative complications. Parents were asked to refer to our clinic for follow-up and evaluation of late complications. Results: Thirty patients and males accounted for majority of the study population (n = 20, 67%. The mean age of male and female patients (at admission was 7.2 ± 2.3 and 4.7 ± 1.2 months respectively (P = not significant. The main diagnostic method was chest x-ray (CXR in all patients. Abnormal bronchial cartilage was found in 71% of patients. The most affected lobe was left upper lobe (50%. Associated anomalies were seen in four patients. Early postoperative periodhadtwo cases of pneumothoraces. At six month follow up, five (25% males and four females (40% had delayed weight gain. Permanent oxygen dependency was seen in two patients. Twenty- six patients underwent thoracotomy. Mortality rate was 13%. Base deficit at the time of admission was greater in those patients who eventually died, (-8.6 ± 1.2 versus -3.1 ± 0.4 (P = 0.0003. There were two deaths in the bilobar involvement group and two in the unilobar involvement group (P = 0.07, near significant. Conclusion: This study confirms that the number of affected lobes and base deficit at the time of admission were associated with significantly increased mortality.

  6. Natural orifice surgery: initial clinical experience

    OpenAIRE

    Horgan, Santiago; Cullen, John P; Talamini, Mark A.; Mintz, Yoav; Ferreres, Alberto; Jacobsen, Garth R.; Sandler, Bryan; Bosia, Julie; Savides, Thomas; Easter, David W.; Savu, Michelle K.; Ramamoorthy, Sonia L.; Whitcomb, Emily; Agarwal, Sanjay; Lukacz, Emily

    2009-01-01

    Background Natural orifice translumenal endoscopic surgery (NOTES) has moved quickly from preclinical investigation to clinical implementation. However, several major technical problems limit clinical NOTES including safe access, retraction and dissection of the gallbladder, and clipping of key structures. This study aimed to identify challenges and develop solutions for NOTES during the initial clinical experience. Methods Under an Institutional Review Board (IRB)-approved protocol, patients...

  7. Clinical Observation: Congenital Absence of the Left Portal Vein in a Patient Undergoing Hepatic Resection

    OpenAIRE

    C. K. Charny; Ling, P.; Botet, J.; L. H. Blumgart

    1997-01-01

    Congenital absence of the left portal vein is a rare vascular anomaly with a reported prevalence varying from one in 62 to one in 507 cases. A patient admitted for recurrent cholangitis secondary to extensive dilation of the left biliary ductal system associated with Caroli's Disease was determined by preoperative dynamic CT to have an excessively large right portal vein and no left portal vein. The surgeon must be aware of any variations in portal vascular anatomy in patients undergoing hepa...

  8. A clinical comparative study of anatomic parameters before and after total hip replacement on congenital dysplasia.

    Science.gov (United States)

    Huang, Ziqiang; Zhou, Yonggang; Chai, Wei; Ji, Weiping; Cui, Guopeng; Ma, Miaoqun; Zhu, Yin

    2016-07-01

    [Purpose] To study preoperative and postoperative hip circumference data of various types of congenital dysplasia of the hip treated with total hip replacement, including the femoral offset, femoral neck length, height, and hip abductor arm parameters. [Subjects and Methods] This study included seventy-eight cases of congenital dysplasia of the hip (I-III type). Furthermore, four parameters were measured, including the preoperative and postoperative femoral offset. Statistical data analysis was performed using the SPSS 13.0 software. [Results] The femoral offset was 33.3 ± 8.4 mm (preoperative) and 39.1 ± 7.1 mm (postoperative). The femoral head height was 59.5 ± 8.7 mm (preoperative) and 68.8 ± 11.0 mm (postoperative). The femoral neck length was 50.8 ± 10.8 mm (preoperative) and 61.5 ± 10.4 mm (postoperative). The hip abductor arm was 54.3 ± 9.6 mm (preoperative) 64.7 ± 10.1 mm (postoperative). The preoperative and postoperative parameters showed statistical differences. Furthermore, no significant differences were evidenced when comparing the postoperative hip parameters with the normal data parameters. [Conclusion] Total hip replacement on congenital dysplasia of the hip could lead to the rebuilt of an almost normal physiological anatomy for each hip case (type I-III). PMID:27512242

  9. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  10. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

    Science.gov (United States)

    Haliloglu, Goknur; Talim, Beril; Sel, Cigdem Genc; Topaloglu, Haluk

    2015-11-01

    A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. We define the clinical characteristics in 15 patients, from 14 unrelated families with so-called 'megaconial CMD', all having mutations in CHKB. Core clinical phenotype included global developmental delay prominent in gross-motor and language domains, severe intellectual disability (ID), and/or muscle weakness in all cases. Muscle biopsies were equivocally 'megaconial' in all. Other peculiarities were: ichthyosis-like skin changes (n = 11), increased serum CK levels (n = 12), microcephaly (n = 6), dysmorphic facial features (n = 7), neonatal hypotonia (n = 3), seizures (n = 3), epileptiform activity without clinically overt seizures (n = 2), dilated cardiomyopathy (n = 2), decreased left ventricular systolic function (n = 2), congenital heart defects (n = 3), sensorineural (n = 1), and conductive hearing loss (n = 1). Ten patients had cranial neuroimaging (MRI-MRS) study, which was notably normal in all, other than one patient having a decreased choline: creatine peak. Intra-familial variability in clinical expression of the disease is noted in four families. Two siblings from the same family, one presenting with global developmental delay and dilated cardiomyopathy, and the other with ichthyosis, ID and proximal weakness without cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively. Evolution was progressive (n = 13) and static (n = 2). PMID:26067811

  11. Canadian experience with structured clinical examinations.

    OpenAIRE

    Grand'Maison, P.; Lescop, J; Brailovsky, C. A.

    1993-01-01

    The use of structured clinical examinations to improve the evaluation of medical students and graduates has become significantly more common in the past 25 years. Many Canadian medical educators have contributed to the development of this technique. The Canadian experience is reviewed from the introduction of simulated-standardized patients and objective-structured clinical examinations to more recent developments and the use of such examinations for licensure and certification.

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

    OpenAIRE

    Giuliano Cerulli; Fantasia Fabiano; Potalivo Gabriele; Placella Giacomo; Sebastiani Enrico

    2014-01-01

    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-y...

  13. The clinical experiences of dyslexic healthcare students

    International Nuclear Information System (INIS)

    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.

  14. 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.

  15. Early experiences of accredited clinical informatics fellowships.

    Science.gov (United States)

    Longhurst, Christopher A; Pageler, Natalie M; Palma, Jonathan P; Finnell, John T; Levy, Bruce P; Yackel, Thomas R; Mohan, Vishnu; Hersh, William R

    2016-07-01

    Since the launch of the clinical informatics subspecialty for physicians in 2013, over 1100 physicians have used the practice and education pathways to become board-certified in clinical informatics. Starting in 2018, only physicians who have completed a 2-year clinical informatics fellowship program accredited by the Accreditation Council on Graduate Medical Education will be eligible to take the board exam. The purpose of this viewpoint piece is to describe the collective experience of the first four programs accredited by the Accreditation Council on Graduate Medical Education and to share lessons learned in developing new fellowship programs in this novel medical subspecialty. PMID:27206458

  16. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    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%)

  17. Congenital syphilis

    International Nuclear Information System (INIS)

    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%)

  18. 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.

  19. Congenital Ocular Motor Apraxia

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    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.

  20. Early therapeutic experience with the endothelin antagonist BQ-123 in pulmonary hypertension after congenital heart surgery

    OpenAIRE

    Prendergast, B; Newby, D; Wilson, L.; Webb, D; Mankad, P

    1999-01-01

    OBJECTIVE—To assess the effect of endothelin type A (ETA) receptor antagonism in infants with pulmonary hypertension following corrective surgery for congenital heart disease.
DESIGN—Open label, preliminary study.
SETTING—Tertiary paediatric cardiothoracic surgical centre.
PATIENTS—Three infants (aged 3 weeks, 7 weeks, and 8 months) with postoperative pulmonary hypertension unresponsive to conventional treatment, including inhaled nitric oxide.
INTERVENTIONS—Patients received incremental intr...

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

    Directory of Open Access Journals (Sweden)

    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.

  2. 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

  3. [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

  4. 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

  5. First year clinical tutorials: students’ learning experience

    Directory of Open Access Journals (Sweden)

    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

  6. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

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    Hanane Latrech

    2015-01-01

    Full Text Available Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.

  7. [Clinical features and care of patients with congenital and childhood-onset myotonic dystrophy].

    Science.gov (United States)

    Ishigaki, Keiko; Muto, Ayako; Osawa, Makiko

    2012-01-01

    Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder with variable expression. DM1 results from a trinucleotide expansion in the 3' untranslated region or the gene for myotonic dystrophy protein kinase (DMPK). Severity tends to increase and it shows a younger onset age with vertical transmission, a phenomenon known as anticipation. Congenital myotonic dystrophy (CDM) is classified as the most severe form of DM1, and its phenotype, with severe hypotonia, neonatal respiratory distress and feeding difficulties, is completely different from that of adult-onset type. Involvement of respiratory muscles may be the major cause of mortality in affected infants. Facial weakness with a tented upper lip is often recognized. If infants survive the neonatal period, muscle involvement symptoms gradually improve and most children do not require respiratory support or tube feeding. As CDM patients grow older, mental retardation or a developmental disorder becomes prominent. Furthermore, the main problems in childhood-onset DM, with an onset age under 10 years, are developmental disorders or learning disabilities, rather than muscle symptoms. Early meticulous support and cooperation with teachers are necessary. Medications such as methylphenidate may be helpful in DM1 children with attention deficit/hyperactivity disorder. PMID:23196584

  8. Congenital mesoblastic nephroma: Its diverse clinical features - A literature review with a case report.

    Science.gov (United States)

    Takahashi, H; Ohkuchi, A; Kuwata, T; Usui, R; Takahashi, S; Matsubara, S

    2016-01-01

    To characterise congenital mesoblastic nephroma (CMN), with special emphasis on polyhydramnios and the neonatal prognosis, we summarise 31 CMN patients (30 reported patients and the present patient). CMN was detected at a median of 30 weeks' gestation, and infants were delivered at a median of 34 weeks' gestation. Of 27 patients with available data, 19 (70%) had polyhydramnios, of which 8 required amnio- drainage. Women with amnio-drainage gave birth significantly earlier (30.4 weeks' gestation) than those without polyhydramnios (36.7 weeks' gestation). Thus, CMN was frequently associated with polyhydramnios and this polyhydramnios was associated with a significant increase in the risk of preterm birth. Of 20 patients with available data, the affected-side kidney was 'compressed' in 16 and 'replaced' in 4: polyhydramnios was present in a half vs 100%, respectively, suggesting that a 'replaced' kidney may suggest a more aggressive tumour and may be associated with a poorer prognosis. Univariate analysis showed that early gestational week at diagnosis was the only feature significantly associated with poor prognosis. Thus, polyhydramnios, 'replaced' kidney and early gestational week at diagnosis, may indicate poor prognosis, to which obstetricians should pay attention. PMID:26467634

  9. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Congenital cystic lesions of the lungs: The perils of misdiagnosis - A single-center experience

    Directory of Open Access Journals (Sweden)

    V Shankar Raman

    2015-01-01

    Full Text Available Background: A majority of cystic lesions in the western world are detected antenatally, whereas, the diagnosis in our setup occurs once the child becomes symptomatic. Surgical management is primarily dictated by the presence of symptoms, recurrent infection, and rarely by the potential risk of malignant transformation. Materials and Methods: A retrospective analysis was carried out on all consecutive patients with cystic lung lesions managed at our center from January 2000 through June 2011 for antenatal diagnosis, presentation, diagnostic modalities, treatment, and complications. Results: Forty cystic lung lesions were identified. Only 8% were antenatally detected. Out of 40, the final diagnosis was congenital cystic adenomatoid malformation in 19, congenital lobar emphysema in 11, and bronchogenic cysts and pulmonary sequestration in five each. Of these, 20% had received a course of prior antitubercular therapy and 30% had an intercostal drain inserted prior to referral to our center. Postoperative morbidity in the form of bronchopleural fistula, pneumothorax, and non-expansion of the residual lung was noted in 10% of the patients. Conclusion: Antenatal diagnosis of these lesions is still uncommon in third world countries. Prior to referral to a pediatric surgical center a large number of patients received antitubercular drugs and an intercostal drain insertion, due to incorrect diagnosis.

  12. Cord blood thyrotropin screening for congenital hypothyroidism. Three years' experience on the Island of Saint Lucia.

    Science.gov (United States)

    Sajous, C; Goto, M; Fitzgerald, M; Anderson, C L; Craft, W; Hurley, R M; Zeller, W P

    1991-01-01

    Cord blood thyrotropin (TSH) screening for congenital primary hypothyroidism has been in effect on the island of St. Lucia for the past three years. Umbilical cord blood samples are obtained on Guthrie filter paper and then transported 3,000 miles to Loyola University of Chicago and delivered to the Illinois State Metabolic Screening Laboratory. There TSH is measured by radioimmunoassay (RIA). After three years, 1,789 newborns have been screened, and the mean value is 6.23 +/- 0.13 microIU per ml. This mean value is less than previously reported by us in 1986 (10.23 +/- 0.29 microIU per ml).13 It is concluded that this screening service continues to be possible far removed from the population under observation. No case of primary hypothyroidism has been detected. Our decreased mean TSH value is due to the new method currently used by the Illinois State Metabolic Screening Laboratory. Congenital hypothyroidism will not be missed provided internal controls are established and rigidly observed. PMID:1781667

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

    International Nuclear Information System (INIS)

    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

  14. Congenital myasthenia gravis.

    Science.gov (United States)

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  15. Nursing students' perceptions of clinical experience.

    Science.gov (United States)

    Windsor, A

    1987-04-01

    Senior nursing students were interviewed in this study to better understand the clinical learning experience from the students' point of view. Results of the study revealed that the nursing students were indeed learning in their clinical experience. The major categories of learning were classified as nursing skills, time management, and professional socialization. The quality of learning was reportedly affected by the quality of the student's preparation, characteristics of the instructor, and the variety of clinical opportunities to which students were exposed. The data also reflected a pattern of student development which was separated into three stages. The first stage was permeated with anxiety and obsession with the rules of task performance. The second stage was a difficult transition period where students struggled with identifying the roles of nurses. During the final stage, the students become more comfortable with performing nursing tasks and become interested in expanding their role and becoming more independent. As the students strived for independence, they identified more closely with staff nurses and withdrew from instructors. PMID:3035128

  16. 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

  17. Clinical experience with PACS: Digital radiology

    International Nuclear Information System (INIS)

    We present our experience during the first 21 months of using hospital-wide network technology and digital archiving in connection with digital radiology in the Radiology Department at the SMZO/Danube hospital in Vienna. This means digital generation, archiving and distribution of radiographs as well as monitor reporting embedded in HIS and RIS. The clinical use of PACS demands full integration of all subsystems and modalities in a digital way, as was first realized at the Danube Hospital. With this approach, a reduction in radiation dose, improved communication and thus a reduction in the length of hospital stay and health care cost are attained. (orig.)

  18. [Prevalence of congenital heart diseases in Koranic schools (daara) in Dakar: a cross-sectional study based on clinical and echocardiographic screening in 2019 school children].

    Science.gov (United States)

    Bodian, M; Ngaïdé, A A; Mbaye, A; Sarr, S A; Jobe, M; Ndiaye, M B; Kane, A D; Aw, F; Gaye, N D; Ba, F G; Bah, M B; Tabane, A; Dioum, M; Diagne, D; Diao, M; Diack, B; Sarr, M; Kane, A; Bâ, S A

    2015-02-01

    Congenital heart diseases are one of the major cardiovascular diseases in developing countries. Most prevalence studies were based on clinical examination of children with echocardiographic confirmation of suspected cases and underestimate its prevalence. The objective of this study was to investigate the prevalence of congenital heart disease in "daara" (Koranic schools) in the city of Dakar and its suburbs on the basis of clinical examination and Doppler echocardiography in school children. This cross-sectional survey was carried out from 9(th) August to 24(th) December 2011, and included a population of 2019 school children aged 5 to 18 years in 16 selected "daaras" under the Academic Inspectorate of Dakar and its suburbs. Anamnestic, clinical and echocardiographic data were recorded in a validated questionnaire. A p heart diseases were detected being a prevalence of 8.9 per 1 000 (95 % CI: 1.8 to 7.9). This included 6 cases of inter-atrial septal aneurysm, 5 cases of peri-membranous ventricular septal defects, 4 cases of patent ductusarteriosus and 3 cases of tetralogy of Fallot. Factors correlated with the presence of congenital heart disease were ageless than 8 (p rheumatic valvular disease, a prevalence of 4.9 per 1 000 (95% CI: 2.4 to 9.1). Our study shows a high prevalence of congenital heart diseases, which is almost identical to the WHO estimates and that ultrasound screening is more sensitive than clinical screening. Reducing the prevalence of these diseases requires implementation of appropriate policies, focusing on awareness and early detection. PMID:25516291

  19. Correlation of biochemical markers and clinical signs of hyperandrogenism in women with polycystic ovary syndrome (PCOS) and women with non-classic congenital adrenal hyperplasia (NCAH)

    OpenAIRE

    Nana Kvashilava; Jenara Kristesashvili; Diana Chanukvadze

    2012-01-01

    Background: Polycystic ovary syndrome (PCOS) is the most common cause of hyperandrogenism in women. Non-classic congenital adrenal hyperplasia (NCAH) is very close to PCOS. The diagnosis of hyperandrogenism is not based on the finding of decreased or increased levels of a single hormone. Objective: In our paper, we are going to test correlation between clinical signs and biochemical markers of hyperandrogenism. Materials and Methods: In this prospective study, we calculated free testosterone ...

  20. Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014

    OpenAIRE

    Mao, Shujiong; Sun, Liying; Tu, Miaoying; Zou, Chaochun; Wang, Xiumin

    2015-01-01

    Abstract This study aimed to investigate the detection rate of chromosome abnormalities in children suspected with congenital disorders in 1 single center, identify any differences according to different classification criteria, and try to enlighten the medical professionals what clinical features should be transferred for cytogenetic analysis. From January 1, 2011 to March 31, 2014, children who were suspected with chromosomal disorders were included. All the cytogenetic analyses were perfor...

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

    International Nuclear Information System (INIS)

    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.)

  2. 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.).

  3. 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.

  4. 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.

  5. Congenital histiocytosis X

    International Nuclear Information System (INIS)

    Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neanatal life. The diagnosis of histiocytosis X (Litterer-Siwe disease should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infilteration of lungs with histiocytic cells. Congenital histiocytosis X is a rare form of Langerhans cell histiocytosis. We report on an infant with congenital histiocytosis X who died within 10 days of birth due to diffuse infiltration of multiple organ systems with Langerhans histiocytic cells. To our knowledge, this is the first case of the radiographic illustration of progressive lung involvement in an infant with histiocytosis X. (orig.)

  6. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4 or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ and the age at diagnosis. Levothyroxine (l-thyroxine is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential.

  7. 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.

  8. Congenital bipartite atlas with hypodactyly in a dog: clinical, radiographic and CT findings.

    Science.gov (United States)

    Wrzosek, M; Płonek, M; Zeira, O; Bieżyński, J; Kinda, W; Guziński, M

    2014-07-01

    A three-year-old Border collie was diagnosed with a bipartite atlas and bilateral forelimb hypodactyly. The dog showed signs of acute, non-progressive neck pain, general stiffness and right thoracic limb non-weight-bearing lameness. Computed tomography imaging revealed a bipartite atlas with abaxial vertical bone proliferation, which was the cause of the clinical signs. In addition, bilateral hypodactyly of the second and fifth digits was incidentally found. This report suggests that hypodactyly may be associated with atlas malformations. PMID:24635705

  9. [Congenital lacrimonasal duct cyst: Do not forget this radiological and clinical entity].

    Science.gov (United States)

    Braun, J-J; Debry, C; Donato, L; Riehm, S

    2016-02-01

    Although obstruction of the lacrimonasal duct is a fairly common finding in newborns, development of a dacryocystocele (nasolacrimal duct cyst) is uncommon and is caused by stenosis in the proximal and distal area of the nasolacrimal duct leading to a cystic dilatation. Its diagnosis remains difficult for the pediatrician, the ENT specialist, the ophthalmologist, and the radiologist. The study of six cases of dacryocystocele and the review of the literature led the authors to describe the clinical and radiological features of this uncommon entity. The symptomatology includes nasal obstruction and, when bilateral, significant respiratory distress in the newborn (obligate nose-breather) and dilatation of the lacrimal duct with blue cystic swelling inferior to the medial canthus or with an inflammatory aspect of the lacrimal duct in case of infection. A careful endoscopic examination of the nasal cavities and CT or MRI imaging reveals a cystic tumor, which arises in the inferior meatus, inferolateral to the inferior turbinate, and can partly or completely obstruct the endonasal space, uni- or bilaterally. CT and MRI are equally sensitive in detecting dacryocystocele and are also useful for differential diagnosis for other cystic or tumoral nasal lesions such as meningoencephalocele, dermoid cyst, and glioma. To avoid the risk of potential complications (respiratory distress or even sudden infant death, infectious ophthalmologic complications), this radiological and clinical entity should not be forgotten. Endoscopic marsupialization leads to immediate and definitive healing recovery. PMID:26724215

  10. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    2011-05-01

    Full Text Available Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA, and in mice that develop with reduced bone morphogenetic protein (Bmp signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

  11. Vesicoscopic Treatment of Symptomatic Congenital Bladder Diverticula in Children: A 7-Year Experience.

    Science.gov (United States)

    Marte, Antonio; Cavaiuolo, Silvia; Esposito, Maria; Pintozzi, Lucia

    2016-06-01

    Introduction The objective of this study was to report on the use of vesicoscopy in the treatment of symptomatic congenital bladder diverticula (CBD) in children. Material and Methods In this study, 16 males, aged 4 to 12 years (median age, 6.25 years), were treated for symptomatic CBD; 3 patients presented double diverticulum and 13 presented single diverticulum. The presenting symptoms were recurrent urinary tract infection, hematuria, lower abdominal pain, and voiding dysfunctions as urgency, frequency alone, or in association. A first midline 5-mm trocar was introduced for a 0-degree telescope at the dome of the bladder, and two left and right 3- or 5-mm trocars were inserted through the anterolateral wall. The bladder was then insufflated with carbon dioxide to 10 to 12 mm Hg pressure. The diverticula were inverted into the bladder and the mucosa around the neck was circumcised by using scissors and hook. The defect was sutured and the bladder was drained. Vesicoureteral reflux (VUR) of third grade or higher was treated endoscopically. Results Mean operative time was 90 minutes for procedures. At 6-month follow-up, ultrasound and voiding cystourethrogram (VCUG) showed the disappearance of the diverticulum in 15 out of the 16 patients. The patient, with huge double diverticulum and fourth grade right VUR, presented recurrence of a small left diverticulum. Patients with voiding disorders presented a gradual improvement of their urgency. VUR disappeared at VCUG in all patients. Conclusion Vesicoscopic diverticulectomy resulted a safe and effective procedure and can be considered a valid alternative to the open or laparoscopic procedures. In our opinion, routine use of vesicoscopy could become the gold standard for the treatment of CBD in children. PMID:25988747

  12. Nurses' experiences of clinical commissioning group boards.

    Science.gov (United States)

    Allan, Helen; O'Driscoll, Mike; Savage, Jan; Lee, Gay; Dixon, Roz

    2016-06-15

    Aim To explore the experience of governing body nurses appointed to clinical commissioning group (CCG) boards; how they perform their responsibilities; and their perceived effectiveness in ensuring safe, patient-centred care and the factors that influence their effectiveness. Method This was a small pilot study using a mixed methods approach. There were four phases of the study: literature review, qualitative data collection (interviews), quantitative data collection (survey), and final data analysis. Findings In the early stages of the formation of CCGs, few governing body nurses had relevant experience to meet the needs of a strategic role, and many of these nurses had no proper job description, too little time to carry out their responsibilities, little management support, and unequal access to training, development, formal support or supervision compared to GP colleagues. Two working patterns or models of work of governing body nurses emerged: the full-time integrated executive statutory role and the part-time non-executive statutory role. Quality and quality assurance were the most frequently cited roles or responsibilities of governing body nurses in CCGs, and their highest priority was to improve the population's health. Conclusion The role of governing body nurse has emerged at a time of organisational change, and following extensive criticism of nursing and nurses in the media. Nurses' roles and experiences are affected by these contextual events and by the emerging structures and diversity of CCGs. Further research is required into the leadership role of governing body nurses, succession planning, and the effectiveness of their relationships with other senior nurses. PMID:27305258

  13. Congenital Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Saber Hammami

    2013-01-01

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

  14. Self-Reported Health Experiences of Children Living with Congenital Heart Defects: Including Patient-Reported Outcomes in a National Cohort Study

    Science.gov (United States)

    Tadic, Valerija; Hogan, Ailbhe; Bull, Catherine; Rahi, Jugnoo Sangeeta; Dezateux, Carol

    2016-01-01

    Background Understanding children’s views about living with congenital heart defects (CHDs) is fundamental to supporting their successful participation in daily life, school and peer relationships. As an adjunct to a health and quality of life outcomes questionnaire, we asked school-age children who survived infant heart procedures to describe their experiences of living with CHDs. Methods In a UK-wide cohort study, children aged 10 to 14 years with CHDs self-completed postal questionnaires that included an open question about having a ‘heart problem’. We compared the characteristics of children with more and less severe cardiac diagnoses and, through collaborative inductive content analysis, investigated the subjective experiences and coping strategies described by children in both clinical severity groups. Results Text and/or drawings were returned by 436 children (246 boys [56%], mean age 12.1 years [SD 1.0; range 10–14]); 313 had less severe (LS) and 123 more severe (MS) cardiac diagnoses. At the most recent hospital visit, a higher proportion of the MS group were underweight (more than two standard deviations below the mean for age) or cyanosed (underweight: MS 20.0%, LS 9.9%; cyanosed: MS 26.2%, LS 3.5%). Children in the MS group described concerns about social isolation and feeling ‘different’, whereas children with less severe diagnoses often characterised their CHD as ‘not a big thing’. Some coping strategies were common to both severity groups, including managing health information to avoid social exclusion, however only children in the LS group considered their CHD ‘in the past’ or experienced a sense of survivorship. Conclusions Children’s reported experiences were not dependent on their cardiac diagnosis, although there were clear qualitative differences by clinical severity group. Children’s concerns emphasised social participation and our findings imply a need to shift the clinical focus from monitoring cardiac function to

  15. 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.

  16. Clinical and X-ray investigations on congenital radio-ulnar synostosis

    International Nuclear Information System (INIS)

    Out of 13 patients with cogenital radio-ulnar synostosis, 10 could be subjected to clinical and X-ray examination and chromosome analysis. In all the family histories the radio-ulnar synostosis was an isolated event. In no case was definite heredity of the same malformation confirmed. In most cases the radio-ulnar synostosis was an isolated malformation. 7 patients were of female, 6 of male sex. In 5 cases the synostosis was bi-lateral, in 8 cases it was unilateral without preference of either side of the body. In 2 out of 10 patients subjected to chromosome analysis gonosomal aneuploidy was found. More often than hitherto supposed, radio-ulnar synostosis seems to be associated with lower forms of polysomia of the x-chromosomes. 15 out of 18 synostoses belonged to type II, 3 to type I. The different types represent merely differring degrees of manifestation of the same deformity occurring bilaterally in one person. All patients with radio-ulnar synostosis exhibited a high degree of functional tolerance to the malformation. The development in child age and the educational and professional record were hardly impaired. (orig./MG)

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

    International Nuclear Information System (INIS)

    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. 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.)

  19. 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.

  20. Decontamination and decorporation: the clinical experience

    International Nuclear Information System (INIS)

    Decontamination and decorporation are quite interrelated when dealing with a contaminated person. Some clinical experiences from a transuranium production facility are offered. Skin decontamination is accomplished by washing with detergent and water. Stubborn cases are treated with sodium hypochlorite followed by rinsing, and emery cloth is used on more stubborn nail or finger pad contamination. If inhaled, the usual skin cleansing followed by nasal douche with normal saline decontaminates reachable areas and one of the DTPA salts given via aerosol both decontaminates and decorporates the inner recesses. Saline laxative reduces the time inhaled, and ingested particles remain in the gastro-intestinal tract. Conservatism prevails in general, but most persons found to have inhaled contamination are given a single chelation within the hour of discovery and if subsequently found to have over 10% M.P.P.B. of a soluble actinide are offered further chelation. Single dose chelation has been found to be relatively innocuous and usually sufficient. The longest case of chelation therapy spanned 2-1/4 years and encompassed 123 doses of CaNa-DTPA

  1. Decontamination and decorporation: the clinical experience

    Energy Technology Data Exchange (ETDEWEB)

    Poda, G.A.

    1979-01-01

    Decontamination and decorporation are quite interrelated when dealing with a contaminated person. Some clinical experiences from a transuranium production facility are offered. Skin decontamination is accomplished by washing with detergent and water. Stubborn cases are treated with sodium hypochlorite followed by rinsing, and emery cloth is used on more stubborn nail or finger pad contamination. If inhaled, the usual skin cleansing followed by nasal douche with normal saline decontaminates reachable areas and one of the DTPA salts given via aerosol both decontaminates and decorporates the inner recesses. Saline laxative reduces the time inhaled, and ingested particles remain in the gastro-intestinal tract. Conservatism prevails in general, but most persons found to have inhaled contamination are given a single chelation within the hour of discovery and if subsequently found to have over 10% M.P.P.B. of a soluble actinide are offered further chelation. Single dose chelation has been found to be relatively innocuous and usually sufficient. The longest case of chelation therapy spanned 2-1/4 years and encompassed 123 doses of CaNa-DTPA.

  2. 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.

  3. Congenital imprinting disorders

    DEFF Research Database (Denmark)

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

    2015-01-01

    consortium 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...... specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...

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

    OpenAIRE

    Saba, Thomas G.; Hershenson, Marc B.; Arteta, Manuel; Ramirez, Ixsy A.; Mullan, Patricia B; Owens, Sonal T.

    2015-01-01

    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 employ...

  5. 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

  6. Collateral Ventilation to Congenital Hyperlucent Lung Lesions Assessed on Xenon-Enhanced Dynamic Dual-Energy CT: an Initial Experience

    OpenAIRE

    Goo, Hyun Woo; Yang, Dong Hyun; Kim, Namkug; Park, Seung Il; Kim, Dong Kwan; Kim, Ellen Ai-Rhan

    2011-01-01

    Objective We wanted to evaluate the resistance to collateral ventilation in congenital hyperlucent lung lesions and to correlate that with the anatomic findings on xenon-enhanced dynamic dual-energy CT. Materials and Methods Xenon-enhanced dynamic dual-energy CT was successfully and safely performed in eight children (median age: 5.5 years, 4 boys and 4 girls) with congenital hyperlucent lung lesions. Functional assessment of the lung lesions on the xenon map was done, including performing a ...

  7. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    LaFranchi Stephen H

    2010-06-01

    Full Text Available Abstract Congenital hypothyroidism (CH occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter

  8. 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.

  9. Satisfaction and improvement of clinical experiment of student radiotechnologists

    International Nuclear Information System (INIS)

    Clinical experiment is a set of experience to help student acquire technic, attitude and knowledge by participating in the clinical work. The radiotechnologists who are employed in departments of radiology serve as clinical instructors. Their responsibilities include teaching students them to become competent radiotechnologist. Clinical instructors often have no formal preparation in teaching student. The purpose of this study is to review some principals that will help clinical instructors support and foster the professional development of student radiotechnologists. The clinical instructor should be able to identify the qualities of instructor, the characteristics of feedback and use facilitation skills when is evaluated student performance. And the survey was performed to evaluate the satisfaction of student participated in clinical experiment, the purpose of this research is to fine the problems and improvements in clinical experiment of student radiotechnologist in Korea

  10. Diagnosis of Congenital Myasthenic Syndromes

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-02-01

    Full Text Available Clinical and neurophysiological data of 11 patients (4 males, 7 females with congenital myasthenic syndromes (CMS diagnosed between 1994 and 2000 are reported from Great Ormond Street Hospital, London, UK.

  11. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. ... Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

  12. Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    NARCIS (Netherlands)

    Miller, David T.; Adam, Margaret P.; Aradhya, Swaroop; Biesecker, Leslie G.; Brothman, Arthur R.; Carter, Nigel P.; Church, Deanna M.; Crolla, John A.; Eichler, Evan E.; Epstein, Charles J.; Faucett, W. Andrew; Feuk, Lars; Friedman, Jan M.; Hamosh, Ada; Jackson, Laird; Kaminsky, Erin B.; Kok, Klaas; Krantz, Ian D.; Kuhn, Robert M.; Lee, Charles; Ostell, James M.; Rosenberg, Carla; Scherer, Stephen W.; Spinner, Nancy B.; Stavropoulos, Dimitri J.; Tepperberg, James H.; Thorland, Erik C.; Vermeesch, Joris R.; Waggoner, Darrel J.; Watson, Michael S.; Martin, Christa Lese; Ledbetter, David H.

    2010-01-01

    Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantial

  13. 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.

  14. Congenital toxoplasmosis

    Science.gov (United States)

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  15. 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 ...

  16. Congenital Pulmonary Alveolar Proteinosis

    OpenAIRE

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

    2013-01-01

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

  17. Dengue fever outbreak: a clinical management experience

    International Nuclear Information System (INIS)

    To determine the frequency of dengue as a cause of fever and compare the clinical and haematological characteristics of Dengue-probable and Dengue-proven cases. All patients with age above 14 years, who were either hospitalized or treated in medical outdoor clinic due to acute febrile illness, were evaluated for clinical features of Dengue Fever (DF), Dengue haemorrhagic fever (DHF) and Dengue Shock Syndrome (DSS). Patients showing typical clinical features and haematological findings suggestive of Dengue fever (As per WHO criteria) were evaluated in detail for comparison of probable and confirmed cases of Dengue fever. All other cases of acute febrile illness, not showing clinical features or haematological abnormalities of Dengue fever, were excluded. The clinical and laboratory features were recorded on SPSS 11.0 programme and graded where required, for descriptive and statistical analysis. Out of 5200 patients with febrile illness, 107 (2%) presented with typical features of DF, 40/107 (37%) were Dengue-proven while 67/107 (63%) were Dengue-probable. Out of Dengue-proven cases, 38 were of DF and 2 were of DHF. Day 1 temperature ranged from 99-105 degreeC (mean 101 degree C). Chills and rigors were noticed in 86 (80%), myalgia in 67%, headache in 54%, pharyngitis in 35%, rash in 28%, and bleeding manifestations in 2% cases. Hepatomegaly in 1(0.5%), lymphadenopathy in 1 (0.5%) and splenomegaly in 12 (11.2%) cases. Leucopoenia (count 40 U/L in 57% cases. Frequency of clinically suspected dengue virus infection was 107 (2%), while confirmed dengue fever cases were 40 (0.8%) out of 5200 fever cases. Fever with chills and rigors, body aches, headache, myalgia, rash, haemorrhagic manifestations, platelet count, total leukocyte count, and ALT, are parameters to screen the cases of suspected dengue virus infection, the diagnosis cannot be confirmed unless supported by molecular studies or dengue specific IgM. (author)

  18. 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

  19. Congenital CMV Infection

    Science.gov (United States)

    ... infect the baby. This can happen when a pregnant woman experiences a first-time infection, a reinfection with a different CMV strain (variety), ... passed their newborn hearing test. Diagnosis Congenital CMV ... newborn baby’s saliva, urine, or blood. Such specimens must be collected for ...

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

    OpenAIRE

    Last, R D; Hill, J M; Roach, M; T. Kaldenberg

    2006-01-01

    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 radial...

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

    OpenAIRE

    White Martha; Pollack Lance; Murray Elizabeth; Lo Bernard

    2007-01-01

    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 b...

  2. 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

  3. Clinical Engineering: Experiences of assisted professional practices

    International Nuclear Information System (INIS)

    In the curricula of the Biomedical Engineering career of the Facultad de Ciencias Exactas y TecnologIa of the Universidad Nacional de Tucuman, Argenitna, there are the Assisted Professional Practices. Within this framework, the students have the possibility of performing practices in the clinic Sanatorio 9 de Julio. One of the objectives of these practices is to apply the concepts, methods and procedures studied along the career in the field work under real work conditions. From the point of view of the host institution, the objective is to improve the performance of the different services and areas applying the tools of Biomedical Engineering. The present work shows an example of such practices where an equipment preliminary analysis was made, its use and maintenance corresponding to the surgical unit of the clinic

  4. Clinical Engineering: Experiences of assisted professional practices

    Science.gov (United States)

    Langone, Luis; Vanetta, Marcos; Vazquez, Marcelo; Rotger, Viviana; Olivera, Juan Manuel

    2007-11-01

    In the curricula of the Biomedical Engineering career of the Facultad de Ciencias Exactas y Tecnología of the Universidad Nacional de Tucumán, Argenitna, there are the Assisted Professional Practices. Within this framework, the students have the possibility of performing practices in the clinic Sanatorio 9 de Julio. One of the objectives of these practices is to apply the concepts, methods and procedures studied along the career in the field work under real work conditions. From the point of view of the host institution, the objective is to improve the performance of the different services and areas applying the tools of Biomedical Engineering. The present work shows an example of such practices where an equipment preliminary analysis was made, its use and maintenance corresponding to the surgical unit of the clinic.

  5. Closed-loop Neurostimulation: The Clinical Experience

    OpenAIRE

    Sun, Felice T.; Morrell, Martha J.

    2014-01-01

    Neurostimulation is now an established therapy for the treatment of movement disorders, pain, and epilepsy. While most neurostimulation systems available today provide stimulation in an open-loop manner (i.e., therapy is delivered according to preprogrammed settings and is unaffected by changes in the patient’s clinical symptoms or in the underlying disease), closed-loop neurostimulation systems, which modulate or adapt therapy in response to physiological changes, may provide more effective ...

  6. Mesenchymal stem cells: from experiment to clinic

    Directory of Open Access Journals (Sweden)

    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 Leukemia

    OpenAIRE

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2013-01-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85–88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirme...

  8. Microfollicular thyroid adenoma and congenital goitrous hypothyroidism.

    OpenAIRE

    Alabbasy, A J; Delbridge, L.; Eckstein, R; Cowell, C.; Silink, M

    1992-01-01

    Three patients with congenital goitrous hypothyroidism are reported. They were treated with adequate thyroxine replacement and developed well defined microfollicular thyroid adenomas despite being euthyroid clinically and biochemically throughout their clinical course. Patients with congenital goitrous hypothyroidism appear to be at increased risk of developing thyroid adenoma in childhood despite the use of replacement thyroxine treatment in physiological doses.

  9. Insomnia: clinical experience with zolpidem (sanval

    Directory of Open Access Journals (Sweden)

    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.

  10. [Euthanasia--experiences from Norwegian pain clinics].

    Science.gov (United States)

    Meidell, N K; Naess, A C

    1998-10-10

    This survey focuses on the subject of euthanasia. A questionnaire was sent to 90 doctors working in pain clinics in Norwegian hospitals. 60 doctors (67%) returned the questionnaire. Only 18 doctors (30%) had ever received a request for euthanasia. The patients who requested euthanasia suffered from refractory pain, depression, fear of pain and fear of becoming helpless. 67% of the doctors were satisfied with the present Norwegian law, while 13% favoured a liberalization of the law. Only 5% were willing to comply with the patient's request for euthanasia under today's law. One third of the doctors would leave the decision to an officially appointed "board" if euthanasia were to become legalized. A majority wanted a doctor to commit the actual procedure, but there were also suggestions that a lawyer or other lay person should carry out the act of euthanasia. Our conclusion is that the closer the patient-doctor relationship is, the more opposed the doctor is to euthanasia. PMID:9816949

  11. Digital mammography: Experiences in clinical application

    International Nuclear Information System (INIS)

    Target: In 1989 in the Kantonal Hospital of Lucerne conventional film-screen mammography was replaced by digital mammography. With the support of a retrospective study, it was checked whether or not digital mammography represents an equally valid diagnostic procedure in daily routine. Methods: 1204 patients were examined using digital mammography. A reevaluation of these patients was carried out using clinical and r[iological routine controls. [ditionally a r[iological and histological examination was performed in 127 cases in which excisional biopsies h[ been done, paying particular attention to detail perception. Results: The sensitivity of digital mammography achieved a total of 85%, whereas the accuracy was 81%. With [ditional use of ultrasound and galactography the sensitivity attained 91%. By reevaluation the sensitivity amounted to 87%, the accuracy remaining at 81%. The positive predictive value was especially high with 76% and 77%. Conclusion: Digital mammography offers satisfactory diagnostic performance. (orig.)

  12. 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.

  13. Cartap hydrochloride poisoning: A clinical experience

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. CLINICAL EXPERIENCE WITH METABOLIC THERAPY FOR BRAIN ISCHEMIA

    Directory of Open Access Journals (Sweden)

    M. Kh. Shurdumova

    2013-01-01

    Full Text Available The paper describes clinical experience with metabolic therapy, including neuroprotective drugs and antioxidants, for cerebrovascular diseases.It gives the results of basic Russian and foreign clinical studies of ethylmethylhydroxypyridoxine succinate and choline alfoscerate and discusses their efficacy and routes of administration.

  16. CLINICAL EXPERIENCE WITH METABOLIC THERAPY FOR BRAIN ISCHEMIA

    Directory of Open Access Journals (Sweden)

    M. Kh. Shurdumova

    2014-07-01

    Full Text Available The paper describes clinical experience with metabolic therapy, including neuroprotective drugs and antioxidants, for cerebrovascular diseases.It gives the results of basic Russian and foreign clinical studies of ethylmethylhydroxypyridoxine succinate and choline alfoscerate and discusses their efficacy and routes of administration.

  17. Tinnitus: clinical experience of the psychosomatic connection

    Directory of Open Access Journals (Sweden)

    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

  18. 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.

  19. Ameloblastoma: Our clinical experience with 68 cases

    Directory of Open Access Journals (Sweden)

    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.

  20. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  1. Lagged Syndesmotic Fixation: Our Clinical Experience.

    Science.gov (United States)

    Kwaadu, Kwasi Yiadom; Fleming, Justin James; Salmon, Trudy

    2015-01-01

    Ankle fractures are very common, and although algorithms are in place for osseous management, consensus has not been reached regarding treatment of associated ligamentous injuries. Although tibiofibular syndesmotic stabilization can be done using different forms of fixation, the biomedical literature has long emphasized the risk of long-term restriction of ankle mobility with the use of lagged transfixation. However, when reduction cannot be maintained with positional fixation, we found that lagging the syndesmotic screw helped to maintain the reduction without causing functional restriction. In this report, we describe our experience with patients who had undergone lagged tibiofibular transfixation and were available for short- to intermediate-term follow-up to assess ankle function. A total of 31 patients (32.63% of 95 consecutive patients) were available at a mean of 34.87 (range 18 to 52) months to complete the American Orthopedic Foot and Ankle Society ankle-hindfoot questionnaire. The mean score was 88.38 (range 42 to 100) points at a mean follow-up interval of 34.87 (range 18 to 52) months. Of 31 patients, 19 had an AOFAS score of 90 points, 9 an AOFAS score of 80 to 89 points, 2 an AOFAS score of 60 to 69 points, and 1 an AOFAS score of ankle kinematics than positional syndesmotic fixation. PMID:25736445

  2. Clinical Positioning Space: Residents' Clinical Experiences in the Outpatient Oncology Clinic.

    Science.gov (United States)

    Williams, Lars H; Christensen, Mette K; Rytter, Carsten; Musaeus, Peter

    2015-09-01

    In this article, we present a case study of residents' clinical experiences and communication in outpatient oncology consultations. We apply positioning theory, a dynamic alternative to role theory, to investigate how oncology residents and patients situate themselves as persons with rights and duties. Drawing from seven qualitative interviews and six days of observation, we investigate the residents' social positioning and their conversations with patients or supervisors. Our focus is on how (a) relational shifts in authority depend on each situation and its participants; (b) storylines establish acts and positions and narratively frame what participants can expect from a medical consultation viewed as a social episode; and (c) the positioning of rights and duties can lead to misunderstandings and frustrations. We conclude that residents and patients locate themselves in outpatient conversations as participants who jointly produce and are produced by patients' and nurses' storylines about who should take responsibility for treatment. PMID:25288406

  3. Validity of Sildenafil Test in Patients with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease According to Clinical and Echocardiographic Parameters

    Directory of Open Access Journals (Sweden)

    Akbar Shahmohammadi

    2009-06-01

    Full Text Available Background: Pulmonary arterial hypertension is a complication of most congenital heart diseases. We sought to assess the effect of sildenafil on patients suffering from pulmonary arterial hypertension in association with congenital heart disease on the basis of clinical and echocardiographic parameters and compare the catheterization and treatment results so as to evaluate the predictive value of sildenafil on the operability of patients. Methods: After primary echocardiography, 21 patients were selected for the final study with a diagnosis of moderate-to-large ventricular septal defect and pulmonary artery hypertension. They were divided into 3 age groups: younger than one year, 1 to 2 years, and older than 2 years. Before and one hour after the consumption of sildenafil, the patients had their oxygen saturation and blood pressure measured. Additionally, the patients underwent echocardiography and cardiac catheterization. The patients’ operability was determined on the basis of their clinical condition and their response to oxygen inhalation in the catheterization room. Finally, the results of the drug response and final treatment were analyzed statistically. Results: The 21 patients, who had ventricular septal defect and pulmonary arterial hypertension, were comprised of 8 (38% boys and 13 (62% girls. The patients aged from 2.5 to 204 months (mean 30 months. It was clear that the younger patients had a more positive response to the drug. All the patients who had a positive response to the drug were considered operable after catheterization and all of them had a positive response to treatment. There was no significant correlation between operable/inoperable conditions and response to treatment (P value=0.262, while there was a very significant correlation between response to treatment and response to drug (P value=0.005. Conclusion: According to the results of this study and given the low cost and availability of sildenafil and its oral

  4. Neonatal Sludge: A finding of congenital hypothyroidism

    OpenAIRE

    Kurtoğlu, Selim; Çoban, Dilek; Akın, Mustafa Ali; Akın, Leyla; Yıkılmaz, Ali

    2010-01-01

    Congenital hypothyroidism is one of the most urgent diseases of the neonate. When diagnosed and treated at an early stage, its most important complication, mental retardation, is preventable. The signs of congenital hypothyroidism are nonspecific in neonates. Only 5% of the cases have characteristic clinical findings. One of the most important and earliest signs is prolonged jaundice during the neonatal period. We report herein a case of congenital hypothyroidism, who presented with icterus a...

  5. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  6. Congenital pseudarthrosis of the clavicle

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, Guido [Texas Scottish Rite Hospital for Children, Department of Radiology, Dallas, TX (United States); Herring, John A. [Texas Scottish Rite Hospital for Children, Department of Orthopedic Surgery, Dallas, TX (United States)

    2009-12-15

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  7. Congenital pseudarthrosis of the clavicle

    International Nuclear Information System (INIS)

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  8. 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.

  9. Collateral Ventilation to Congenital Hyperlucent Lung Lesions Assessed on Xenon-Enhanced Dynamic Dual-Energy CT: an Initial Experience

    International Nuclear Information System (INIS)

    We wanted to evaluate the resistance to collateral ventilation in congenital hyperlucent lung lesions and to correlate that with the anatomic findings on xenon-enhanced dynamic dual-energy CT. Xenon-enhanced dynamic dual-energy CT was successfully and safely performed in eight children (median age: 5.5 years, 4 boys and 4 girls) with congenital hyperlucent lung lesions. Functional assessment of the lung lesions on the xenon map was done, including performing a time-xenon value curve analysis and assessing the amplitude of xenon enhancement (A) value, the rate of xenon enhancement (K) value and the time of arrival value. Based on the A value, the lung lesions were categorized into high or low (A value > 10 Hounsfi eld unit [HU]) resistance to collateral ventilation. In addition, the morphologic CT findings of the lung lesions, including cyst, mucocele and an accessory or incomplete fissure, were assessed on the weighted-average CT images. The xenon-enhanced CT radiation dose was estimated. Five of the eight lung lesions were categorized into the high resistance group and three lesions were categorized into the low resistance group. The A and K values in the normal lung were higher than those in the low resistance group. The time of arrival values were delayed in the low resistance group. Cysts were identified in five lesions, mucocele in four, accessory fissure in three and incomplete fissure in two. Either cyst or an accessory fissure was seen in four of the five lesions showing high resistance to collateral ventilation. The xenon-enhanced CT radiation dose was 2.3 ± 0.6 mSv. Xenon-enhanced dynamic dual-energy CT can help visualize and quantitate various degrees of collateral ventilation to congenital hyperlucent lung lesions in addition to assessing the anatomic details of the lung

  10. Collateral Ventilation to Congenital Hyperlucent Lung Lesions Assessed on Xenon-Enhanced Dynamic Dual-Energy CT: an Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo; Yang, Dong Hyun; Kim, Nam Kug; Park, Seung Il; Kim, Dong Kwan; Kim, Ellen Ai Rhan [Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2011-02-15

    We wanted to evaluate the resistance to collateral ventilation in congenital hyperlucent lung lesions and to correlate that with the anatomic findings on xenon-enhanced dynamic dual-energy CT. Xenon-enhanced dynamic dual-energy CT was successfully and safely performed in eight children (median age: 5.5 years, 4 boys and 4 girls) with congenital hyperlucent lung lesions. Functional assessment of the lung lesions on the xenon map was done, including performing a time-xenon value curve analysis and assessing the amplitude of xenon enhancement (A) value, the rate of xenon enhancement (K) value and the time of arrival value. Based on the A value, the lung lesions were categorized into high or low (A value > 10 Hounsfi eld unit [HU]) resistance to collateral ventilation. In addition, the morphologic CT findings of the lung lesions, including cyst, mucocele and an accessory or incomplete fissure, were assessed on the weighted-average CT images. The xenon-enhanced CT radiation dose was estimated. Five of the eight lung lesions were categorized into the high resistance group and three lesions were categorized into the low resistance group. The A and K values in the normal lung were higher than those in the low resistance group. The time of arrival values were delayed in the low resistance group. Cysts were identified in five lesions, mucocele in four, accessory fissure in three and incomplete fissure in two. Either cyst or an accessory fissure was seen in four of the five lesions showing high resistance to collateral ventilation. The xenon-enhanced CT radiation dose was 2.3 {+-} 0.6 mSv. Xenon-enhanced dynamic dual-energy CT can help visualize and quantitate various degrees of collateral ventilation to congenital hyperlucent lung lesions in addition to assessing the anatomic details of the lung

  11. 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.

  12. Congenital Cleft Hand

    OpenAIRE

    Aritamur, Ayhan; Cakmak, Mehmet; Taser, Omer; Berk, Hasan

    2004-01-01

    Congenital cleft hand deformity, which is also known with such names as cleft hand, lobster claw hand and Ectrodactyiy, is characterized by the absence of one or two fingers in the mid portion of the hand. A case of bilateral cleft hand deformity four years old, which is considerabiy rare, was reconstructed surgically. The result obtained has been presented. Because no sufficient experience has accumulated due to the fact that it is observed considerably rare, the therapeutical principales re...

  13. 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.

  14. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  15. New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

    Science.gov (United States)

    Basel-Vanagaite, Lina; Sprecher, Eli; Gat, Andrea; Merlob, Paul; Albin-Kaplanski, Adi; Konen, Osnat; Solomon, Benjamin D; Muenke, Maximilian; Grzeschik, Karl-H; Sirota, Lea

    2012-01-01

    Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings. PMID:21995818

  16. Bone conduction hearing in congenital aural atresia.

    Science.gov (United States)

    Zhang, Lichun; Gao, Na; Yin, Yanbo; Yang, Lin; Xie, Youzhou; Chen, Ying; Dai, Peidong; Zhang, Tianyu

    2016-07-01

    Previous researches focusing on BC hearing mechanisms proved that the two routes, (1) EAC sound radiation and (2) inertial of ossicular chain, partially contribute to normal BC hearing. Therefore, the BC hearing for those patients with congenital aural atresia should partially decrease theoretically due to their abnormal anatomy. However, there are not many studies which mention these patients' BC hearing up till now. The objective of this study is to investigate congenital aural atresia patient's BC hearing by analysis of pre-surgical audiogram and to study their potential BC hearing mechanisms using animal modeling and their ABR measurements. The study methoed involves analyzing 75 patients' pre-operative audiogram. Then we produced an animal model by surgery to measure their BC hearing threshold changes. Clinical data showed that those patients had some BC hearing loss; and there were 25 cases (25/75, 33.3 %) which present with typical Carhart's Notch. The animal experiments proved that inertia of ossicular chain contribute to partial BC hearing, which demonstrated that the inertia produced more affects on high frequencies by comparing with low frequencies. The patients with congenital aural atresia present BC hearing loss, which could be mainly ascribed to the absence of inertia of ossicular chain. PMID:26205153

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

    OpenAIRE

    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’ experienc...

  18. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.

    Science.gov (United States)

    Santos, Ernestina; Moreira, Isabel; Coutinho, Ester; Gonçalves, Guilherme; Lopes, Carlos; Lopes Lima, José; Leite, M Isabel

    2015-12-01

    We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest. By the age of 34, the patient experienced gradual worsening of fatigue with dyspnoea and pronounced limb weakness, requiring significant increase of pyridostigmine. Further, a remarkable and sustained clinical improvement followed thymectomy with hyperplastic thymus. Despite of the absence of detectable antibodies to acetyl-choline receptor (AChR) (including clustered-AChR), muscle-specific kinase and low-density lipoprotein receptor-related protein-4 antibodies in the serum obtained nine years after thymectomy, the clinical, genetic and histological features are in keeping with the extremely rare association of two rare neuromuscular junction disorders - CMS and myasthenia gravis (MG). The inexistence of other conditions that could potentially associate with thymic hyperplasia also supports the diagnosis of MG. PMID:26363966

  19. 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.).

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

    International Nuclear Information System (INIS)

    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.)

  1. 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.

  2. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  3. Student nurses experience of learning in the clinical environment.

    Science.gov (United States)

    Papastavrou, Evridiki; Lambrinou, Ekaterini; Tsangari, Haritini; Saarikoski, Mikko; Leino-Kilpi, Helena

    2010-05-01

    The clinical learning environment is a complex social entity that influences student learning outcomes in the clinical setting. Exploration of this environment gives insight into the educational functioning of the clinical areas and allows nurse teachers to enhance students' opportunities for learning. Since Cyprus is undergoing major reforms in nursing education, building on the experience and knowledge gained, this study aims to explore the present clinical situation and how this would impact on nursing education moves to the university. As nursing education would take on a different approach, it is assumed the learning approach would also be different, and so utilization of the clinical environment would also be improved. Six hundred and forty five students participated in the study. Data were collected by means of the clinical learning environment and supervision instrument. A statistically significant correlation was found between the sub-dimensions "premises of nursing care" and "premises of learning" indicating that students are relating learning environment with the quality of nursing care and patient relationships. The ward atmosphere and the leadership style of the manager were rated as less important factors for learning. The majority of students experienced a group supervision model, but the more satisfied students were those with a "personal mentor" that was considered as the most successful mentor relationship. The findings suggest more thorough examination and understanding of the characteristics of the clinical environment that are conductive to learning. PMID:19700368

  4. 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.

  5. Congenital nephrotic syndrome.

    Science.gov (United States)

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  6. Congenital Aortic Stenosis and Aneurysms

    NARCIS (Netherlands)

    D. van der Linde (Denise)

    2013-01-01

    textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both non-oper

  7. Congenital erythropoietic porphyria with hemolytic anemia

    Directory of Open Access Journals (Sweden)

    Massod Qazi

    2005-01-01

    Full Text Available A 15 year old boy with clinical, hematological and biochemical profile of congenital erythropoietic porphyria with hemolytic anemia is being reported in view of the rarity of this condition.

  8. 小儿先天性重度肾积水的外科治疗分析%Clinical efficacy of surgical treatment of severe congenital hydronephrosis

    Institute of Scientific and Technical Information of China (English)

    董武

    2014-01-01

    目的:探讨外科治疗小儿先天性重度肾积水的临床疗效。方法回顾性分析36例小儿先天性重度肾积水患者的临床资料,分析手术后患肾形态和功能及临床疗效。结果随访时患儿患侧肾实质平均厚度以及肾实质平均面积较术前显著增加(P0.05)。对12例患儿术前术后肾脏功能进行比较,随访时健侧患侧肾滤过分数均显著增加(P0.05). Preoperative and postoperative renal function were compared on 12 patients that the results showed ipsilateral kidney filtration fraction significantly increased during follow-up (P<0.01), but still significantly lower than the contralateral kidney(P<0.01). During follow-up,the average of renal parenchyma surface without urinary tract infection was signif-icantly higher than that in children with urinary tract infection group(P<0.01). Conclusion Surgical treatment of chil-dren with severe congenital hydronephrosis shows better clinical efficacy.

  9. Clinical Analysis of 19 young children with congenital imperforated anus operated with Perine-um-anoplasty%会阴肛门成形术治疗先天性无肛19例临床分析

    Institute of Scientific and Technical Information of China (English)

    黄德铨; 侯艳梅; 许璟; 康健; 琚晓; 廖波; 袁可

    2011-01-01

    目的 分析和评估会阴肛门成形术治疗先天性中低位无肛患儿的疗效.方法 回顾性分析2003年10月至2010年8月我科收治的19例中低位无肛畸形儿采用会阴肛门成形术治疗的临床资料.结果 术后随访3个月至3年,19例患儿肛门功能及排便功能正常.结论 会阴肛门成形术治疗中低位无肛疗效是确切的,值得临床推广.%Objective To analyze and evaluate the efficacy of treating intermediate and low congenital imperforated anus with Perineum-anoplasty. Methods From Oct. 2003 to Aug. 2010, 19 young children with intermediate and low congenital imperforated anus were operated with Perineum-anoplasty. Results The cases had been followed up for 3 to 36 months. Anal function and defecation were normal with satisfactory.Conclusion The efficacy of treating congenital intermediate and low congenital imperforated anus with Perineum-anoplasty is accurate, and it is worth promoting in the clinic.

  10. Congenital granular-cell myoblastoma.

    Science.gov (United States)

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

  11. Genetic and Epigenetic Factors at COL2A1 and ABCA4 Influence Clinical Outcome in Congenital Toxoplasmosis

    OpenAIRE

    JAMIESON, S.E.; de Roubaix, L. A.; Cortina-Borja, M.; Tan, H K; Mui, E. J.; Cordell, H J; Kirisits, M. J.; Miller, E. N.; Peacock, C. S.; Hargrave, A. C.; Coyne, J J; Boyer, K.; Bessieres, M H; Buffolano, W.; Ferret, N

    2008-01-01

    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 ...

  12. Clinical Experience of Medical Students at University Sains Malaysia

    OpenAIRE

    Quah, Ban Seng; Malik, Alam Sher; Simpson, Hamish

    2000-01-01

    Experience of acute medical, surgical conditions, and clinical procedures of undergraduate students were assessed via a questionnaire survey during the final week of the 1993/1998 programme at the School of Medical Sciences, Univestiti Sains Malaysia. Individual performances were assessed by a scoring system. One hundred and twenty four students responded, (response rate 97%). More than 90% had seen myocardial infarction, cerebrovascular accident, pneumonia, respiratory distress, gastroenteri...

  13. Influence of light source and clinical experience on shade matching

    OpenAIRE

    GÁSPÁRIK, CRISTINA; TOFAN, ALINA; CULIC, BOGDAN; BADEA, MÎNDRA; DUDEA, DIANA

    2014-01-01

    Introduction Shade is one of the most important attributes when evaluating the success of a restoration. Several factors can influence the visual shade matching process, and therefore the outcome of the final restoration. Objectives 1. to assess the importance of clinical experience on shade matching accuracy; 2. to assess the influence of two standard light sources on the ability to match shade tabs; 3. to identify the area in a VITA Classical shade guide where matching errors are most likel...

  14. [The congenital afibrinogenemia: case report].

    Science.gov (United States)

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582

  15. 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.

  16. 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.

  17. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  18. 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

  19. 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

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

    OpenAIRE

    de Fatima Vasco Aragao, Maria; 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...

  1. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  2. Clinical application of the"hybrid approach"in the treatment of congenital heart disease%“镶嵌”技术在先天性心脏病临床治疗中的应用

    Institute of Scientific and Technical Information of China (English)

    姜明泽(综述); 游昕(审校)

    2014-01-01

    With growing number of operation with congenital heart disease ( CHD) ,its methods of treatment are paid more and more attention by the surgeons .The article briefly introduced the concept ,development history ,the main clinical applications ,complica-tions,treatment, comprehensive evaluation and prospect of "hybrid approach".%随着先天性心脏病( congenital heart disease ,CHD)手术数量的增加,其治疗方法的改进也日益受到重视。文中简要介绍CHD“镶嵌”技术( hybrid approach )的概念、发展历史、主要临床应用、并发症及处理等内容,并对这一技术进行综合评价及展望。

  3. 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.)

  4. 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.

  5. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  6. 婴幼儿先天性心脏病术后高热的护理体会%Nursing experience of infants with fever after congenital heart disease surgery

    Institute of Scientific and Technical Information of China (English)

    孙佳

    2015-01-01

    本文探讨了婴幼儿先天性心脏病(简称:先心病)术后高热的护理对策及临床效果.对100例婴幼儿先天性心脏病术后高热患者,通过一系列的物理和药物的方法,所有患者都得到了有效的降温,临床效果较满意.因此,对婴幼儿先天性心脏病术后高热给予一系列的护理对策具有较好的临床效果.%In this paper,the author explored the nursing countermeasure and clinical effect of infants with fever after congenital heart disease surgery.100 infants with fever after congenital heart disease surgery were given a series of physical and drug methods,and all patients had been effectively cooled.The clinical effect was satisfactory.Thus,a series of nursing countermeasures for infants with fever after congenital heart disease surgery have a better clinical effect.

  7. Adult congenital heart disease

    OpenAIRE

    Morphet, John AM

    2006-01-01

    One million people over the age of 20 suffer from congenital heart disease in the United States. These adult patients can slip through the cracks of our medical system; many are too old to be cared for in most pediatric institutions by pediatric cardiologists and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to identify the common lesions in adult congenital heart disease and how they should be managed. Acyanotic congenital he...

  8. 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.

  9. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  10. 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.)

  11. Congenital sternoclavicular dermoid sinus.

    Science.gov (United States)

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  12. 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.)

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

    International Nuclear Information System (INIS)

    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.)

  14. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

    Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

  15. Congenital malformations in newborns of alcoholic mothers

    OpenAIRE

    Maria dos Anjos Mesquita; Conceição Aparecida de Mattos Segre

    2010-01-01

    Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects ...

  16. 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.

  17. Managing medical images and clinical information: InCor's experience.

    Science.gov (United States)

    Furuie, Sergio S; Rebelo, Marina S; Moreno, Ramon A; Santos, Marcelo; Bertozzo, Nivaldo; Motta, Gustavo H M B; Pires, Fabio A; Gutierrez, Marco A

    2007-01-01

    Patients usually get medical assistance in several clinics and hospitals during their lifetime, archiving vital information in a dispersed way. Clearly, a proper patient care should take into account that information in order to check for incompatibilities, avoid unnecessary exams, and get relevant clinical history. The Heart Institute (InCor) of São Paulo, Brazil, has been committed to the goal of integrating all exams and clinical information within the institution and other hospitals. Since InCor is one of the six institutes of the University of São Paulo Medical School and each institute has its own information system, exchanging information among the institutes is also a very important aspect that has been considered. In the last few years, a system for transmission, archiving, retrieval, processing, and visualization of medical images integrated with a hospital information system has been successfully created and constitutes the InCor's electronic patient record (EPR). This work describes the experience in the effort to develop a functional and comprehensive EPR, which includes laboratory exams, images (static, dynamic, and three dimensional), clinical reports, documents, and even real-time vital signals. A security policy based on a contextual role-based access control model was implemented to regulate user's access to EPR. Currently, more than 10 TB of digital imaging and communications in medicine (DICOM) images have been stored using the proposed architecture and the EPR stores daily more than 11 GB of integrated data. The proposed storage subsystem allows 6 months of visibility for rapid retrieval and more than two years for automatic retrieval using a jukebox. This paper addresses also a prototype for the integration of distributed and heterogeneous EPR. PMID:17249400

  18. Congenital Chikungunya

    OpenAIRE

    Gopakumar, Hariharan; Ramachandran, Sivji

    2012-01-01

    Chikungunya virus (CHIKV) infection manifesting in neonates is very rare. The prevalence of the entity was described only recently. We describe a neonate with chikungunya who presented with severe thrombocytopenia and features of multisytem involvement. Identification of this entity based on clinical and epidemiological background helps in appropriate management and aids in prognostication of the affected neonate.

  19. Clinicians’ experiences of becoming a clinical manager: a qualitative study

    Directory of Open Access Journals (Sweden)

    Spehar Ivan

    2012-11-01

    Full Text Available Abstract Background There has been an increased interest in recruiting health professionals with a clinical background to management positions in health care. We know little about the factors that influence individuals’ decisions to engage in management. The aim of this study is to explore clinicians’ journeys towards management positions in hospitals, in order to identify potential drivers and barriers to management recruitment and development. Methods We did a qualitative study which included in-depth interviews with 30 clinicians in middle and first-line management positions in Norwegian hospitals. In addition, participant observation was conducted with 20 of the participants. The informants were recruited from medical and surgical departments, and most had professional backgrounds as medical doctors or nurses. Interviews were analyzed by systemic text condensation. Results We found that there were three phases in clinicians’ journey into management; the development of leadership awareness, taking on the manager role and the experience of entering management. Participants’ experiences suggest that there are different journeys into management, in which both external and internal pressure emerged as a recurrent theme. They had not anticipated a career in clinical management, and experienced that they had been persuaded to take the position. Being thrown into the position, without being sufficiently prepared for the task, was a common experience among participants. Being left to themselves, they had to learn management “on the fly”. Some were frustrated in their role due to increasing administrative workloads, without being able to delegate work effectively. Conclusions Path dependency and social pressure seems to influence clinicians’ decisions to enter into management positions. Hospital organizations should formalize pathways into management, in order to identify, attract, and retain the most qualified talents. Top managers

  20. Clinical application of imaging diagnosis in complicated congenital heart disease%复杂性先天性心脏病影像学诊断的临床应用

    Institute of Scientific and Technical Information of China (English)

    罗凯(综述); 付炜; 郑景浩(审校)

    2014-01-01

    With the continuous development of imaging techniques,patients with congenital heart dis-ease,especially in complicated congenital cardiac malformations,have more choices for detection methods of ear-ly diagnosis. Nowadays,the widely used diagnostic imaging methods included echocardiography,CT,MRI,cardi-ac catheterization,and prenatal ultrasound examination. Clinicians should choose the appropriate means of ima-ging test depending on the situation. This article will focus on the clinical application of imaging diagnosis in complicateol congenital heart disease.%随着影像学技术的不断发展,先天性心脏病,尤其是复杂性先天心脏畸形的早期诊断方法有了更多选择。目前广泛用于先天性心脏病心影像学诊断的检查主要包括超声心动图、CT、MRI、心导管检查以及产前超声检查等。临床医生应该根据患者不同情况选择合适的检查手段,该文将对近年来几种影像检查在临床上如何选择应用做一综述。

  1. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  2. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  3. Psychometric validation of satisfaction with simulated clinical learning experience evaluation – corrections (SSCLEE-C

    Directory of Open Access Journals (Sweden)

    Desiree A. Díaz

    2016-03-01

    Originality/value: The Satisfaction with Simulated Clinical Learning Experience Evaluation – Corrections (SSCLEE-C is the only instrument available for ongoing assessment of correctional nurse satisfaction with simulated clinical learning experiences.

  4. 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.)

  5. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

    Energy Technology Data Exchange (ETDEWEB)

    Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van; Ropers, H.H. [University Hospital, Nijmegen (Netherlands); Schoonbrood-Lenssen, A.M.J. [Institute for the Mentally Retarded, Echt (Netherlands)

    1994-07-15

    We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micro-gnathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at {theta} = 0.0). 24 refs., 12 figs., 1 tab.

  6. Congenital Anomalies of the Breast

    OpenAIRE

    Caouette-Laberge, Louise; Borsuk, Daniel

    2013-01-01

    Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic muscle transfer, nipple and areola repositioning, and breast augmentation using prosthesis or autologous tissue transfer. Other congenital breas...

  7. Congenital contractural arachnodactyly (Beals syndrome).

    OpenAIRE

    Viljoen, D

    1994-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of the calf muscles. Many patients have kyphoscoliosis and mitral valve prolapse and, very occasionally, aortic root dilatation and ectopia lentis h...

  8. 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"…

  9. RUBELLA VIRUS AND ITS TERATOGENIC ACTION. PATHOGENESIS, CLINICAL COURSE, DIAGNOSTICS AND PREVENTION OF CONGENITAL RUBELLA SYNDROME. ARTICLE 1. RUBELLA VIRUS: MOLECULAR–BIOLOGICAL CHARACTERISTICS

    Directory of Open Access Journals (Sweden)

    A. J. Antipova

    2014-06-01

    Full Text Available Abstract. This review summarizes data about rubella virus and its teratogenic action, congenital rubella syndrome (CRS, modern methods of diagnostics and prevention of infection. The current article provide information concerning modern knowledge about structural and functional organization of Rubella virus (genius Rubivirus, family Togaviridae, stages of viral reproduction.

  10. 先天性甲状腺功能减低症患儿的临床护理分析%Analysis of Clinical Nursing of Children With Congenital Hypothyroidism

    Institute of Scientific and Technical Information of China (English)

    霍丽春; 韩丽萍; 王红梅; 曹香雪

    2015-01-01

    Objective To investigate clinical nursing in children with congenital hypothyroidism.Methods From January 2014 to March 2015,30 children with congenital hypothyroidism,nursing measures were analyzed.Results 30 children with clinical treatment and intensive nursing had improved and discharged.Conclusion Children with congenital hypothyroidism disease should be Early, adequate, long-term and lifelong treatment. Children feel the warmth,received attention,through clinical treatment and intensive nursing,caring and encouraging,fuled of confidence, maintained a good mental state, and promoting recovery.%目的:探讨儿童先天性甲状腺功能减低症的临床护理。方法对2014年1月~2015年3月收治的先天性甲状腺功能减低症患儿30例的临床护理措施进行分析。结果30例患儿经临床治疗和精心护理均好转出院。结论先天性甲状腺功能减低症患儿应早期、足量、长期、终身治疗。通过临床治疗和精心护理及关怀和鼓励,使患儿感到温暖受重视,从而充满自信心,保持良好的心理状态,以促进康复。

  11. Junior nursing students' experiences of vertical violence during clinical rotations.

    Science.gov (United States)

    Thomas, Sandra P; Burk, Renee

    2009-01-01

    Horizontal violence is a form of workplace violence, a phenomenon that is prevalent in the nursing profession. Research has revealed a variety of negative peer-to-peer behaviors that lower morale and lead to turnover. However, little research has been conducted on "eating our young" (violence occurring between individuals with unequal power, such as staff nurse and student). We propose "vertical violence" as the appropriate term when abusive registered nurse (RN) behavior is directed towards students. We report a content analysis of stories written by junior nursing students about incidents of injustice perpetrated by staff RNs during their clinical experiences. Four levels of injustice were described. Nursing leadership, both in hospitals and educational institutions, must become engaged in efforts to eradicate vertical violence towards students. PMID:19631065

  12. 42 CFR 482.80 - Condition of participation: Data submission, clinical experience, and outcome requirements for...

    Science.gov (United States)

    2010-10-01

    ...) Standard: Clinical experience. To be considered for initial approval, an organ-specific transplant center..., clinical experience, and outcome requirements for initial approval of transplant centers. 482.80 Section... Hospitals Transplant Center Data Submission, Clinical Experience, and Outcome Requirements §...

  13. Diagnosis and treatment of congenital heart defects

    International Nuclear Information System (INIS)

    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.)

  14. 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.)

  15. Dasatinib first-line: Multicentric Italian experience outside clinical trials.

    Science.gov (United States)

    Breccia, Massimo; Stagno, Fabio; Luciano, Luigiana; Abruzzese, Elisabetta; Annunziata, Mario; D'Adda, Mariella; Maggi, Alessandro; Sgherza, Nicola; Russo-Rossi, Antonella; Pregno, Patrizia; Castagnetti, Fausto; Iurlo, Alessandra; Latagliata, Roberto; Cedrone, Michele; Di Renzo, Nicola; Sorà, Federica; Rege-Cambrin, Giovanna; La Nasa, Giorgio; Scortechini, Anna Rita; Greco, Giovanna; Franceschini, Luca; Sica, Simona; Bocchia, Monica; Crugnola, Monica; Orlandi, Esther; Guarini, Attilio; Specchia, Giorgina; Rosti, Gianantonio; Saglio, Giuseppe; Alimena, Giuliana

    2016-01-01

    Dasatinib was approved for the treatment of chronic phase (CP) chronic myeloid leukemia (CML) patients in first line therapy based on the demonstration of efficacy and safety reported in patients enrolled in clinical trials. We describe a multicentric Italian "real-life" experience of dasatinib used as frontline treatment outside clinical trials. One hundred and nine patients (median age 54 years) were treated from January 2012 to December 2013. Increased incidence of high risk patients were detected according to stratification (26% according to Sokal score, 19% according to Euro score and 16% according to EUTOS) when compared to company sponsored studies. Median time from diagnosis to start of dasatinib was 18 days. Ten patients received unscheduled starting dose (6 patients 50mg and 4 patients 80 mg QD), whereas 99 patients started with 100mg QD. At 3 months, 92% of patients achieved a BCR-ABL ratio less than 10%. At 6 months, the rate of CCyR was 91% and the rate of MR3 was 40%, with 8% of the patients reaching MR4.5. Ninety-three patients were evaluable at 12 months: the rate of MR3 was 62%, with MR4.5 being achieved by 19% of the patients. At a median follow-up of 12 months, 27 patients (24.7%) were receiving the drug at reduced dose. Two patients (1.8%) experienced a lymphoid blast crisis and the overall incidence of resistance was 8%. As regards safety, the major side effects recorded were thrombocytopenia, neutropenia and pleural effusions, which occurred in 22%, 10% and 8% of patients, respectively. Present results, achieved in a large cohort of patients treated outside clinical trials, further confirm the efficacy and safety of dasatinib as firstline treatment in CML. PMID:26643920

  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. Antioxidant vitamins in atherosclerosis--animal experiments and clinical studies.

    Science.gov (United States)

    Ozkanlar, Seckin; Akcay, Fatih

    2012-01-01

    Atherosclerotic heart diseases are universal problems in modern society. Oxidative damage to lipids is a primary cause of atherosclerosis. There are many choices for treatment, but no definite recommendations to prevent the occurrence of the disease. There is a relationship between atherosclerotic risk factors and increased vascular production of reactive oxygen species (ROS). Oxidized low-density lipoproteins (LDL) and ROS may directly cause endothelial dysfunction by reducing endothelial nitric oxide (NO) bioavailability. Vitamin E can to some degree prevent the consequences of oxidized LDL, and vitamin C provides NO synthase activity. Although prolonged use of vitamin A, C, and E supplementation in pharmaceutical forms has been proven to be effective in preventing atherosclerosis in animal experiments, this has not yet been demonstrated in clinical trials with human beings. It should be taken into account that the evidence has been gathered from young/adult experimental animals with early stages of arthrosclerosis and from in-vitro studies, while most of the clinical trials have involved older patients with late stages of the disease. Prolonged use of vitamins in the diet has not yet been recommended in human beings. There is some indication that a diet rich in antioxidant fruit and vegetables may be beneficial in the prevention of cardiovascular events. PMID:23214308

  18. 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.

  19. Clinical experience of medical students at university sains malaysia.

    Science.gov (United States)

    Quah, B S; Malik, A S; Simpson, H

    2000-01-01

    Experience of acute medical, surgical conditions, and clinical procedures of undergraduate students were assessed via a questionnaire survey during the final week of the 1993/1998 programme at the School of Medical Sciences, Univestiti Sains Malaysia. Individual performances were assessed by a scoring system. One hundred and twenty four students responded, (response rate 97%). More than 90% had seen myocardial infarction, cerebrovascular accident, pneumonia, respiratory distress, gastroenteritis, coma, and snake bite. Less than 33% had witnessed acute psychosis, diabetic ketoacidosis, acute hepatic failure, status epilepticus, near drowning, hypertensive encephalopathy, acute haemolysis or child abuse.Acute surgical/obstetrics cases, seen by >90% students, included fracture of long bones, head injury, acute abdominal pain, malpresentation and foetal distress. Less than 33% had observed epistaxis, sudden loss of vision, peritonitis or burns. Among operations only herniorrhaphy, Caesarian section, internal fixation of fracture and cataract extraction were seen by >80% students. The main deficits in clinical procedures are in rectal and vaginal examinations, urine collection and microscopic examinations. The performance of individual students, assessed by a scoring system, showed 15 students had unacceptably low scores (181.4/230, 70%) and 5 had superior scores (197.6/230, 80%). PMID:22844212

  20. Solitary Type of Congenital Self-healing Reticulohistiocytosis

    OpenAIRE

    Dorjsuren, Gantsetseg; Kim, Hee Jung; Jung, Jin Young; Bae, Byung Gi; Lee, Ju Hee

    2011-01-01

    Congenital self-healing reticulohistiocytosis is a rare, congenital, benign, self-healing variant of Langerhans cell histiocytosis. It usually appears as multiple papules or nodules; however, occurrence of the solitary type is very rare. We report on a case of solitary congenital self-healing reticulohistiocytosis in a 29-day-old girl who presented with a papule on her sole. Two months later, the lesion regressed with a slight scar. Based upon clinical and histologic findings, we made a diagn...

  1. A Congenital Glaucoma Case with Rubinstein-Taybi Syndrome

    OpenAIRE

    Mümin Hakan Eren; Hasan Alt›nkaynak; Hülya Güngel; Tan›l Gürsel

    2011-01-01

    To evaluate systemic/eye manifestations and treatment modalities in a case of Rubinstein-Taybi Syndrome (RTS) with bilateral congenital glaucoma and structural eye anomalies. Eight-month-old infant with RTS presented to our clinic with bilateral epiphora and corneal haze in one eye. In ophthalmologic examination, bilateral congenital glaucoma and epiblepharon were found. Medical and surgical treatments of congenital glaucoma were performed. Abnormal eye findings are commonly seen ...

  2. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    OpenAIRE

    Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, ...

  3. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

    Alok Sachan; V. Suresh; D Rajasekhar; V. Vanaja; Harinarayan, C. V.; Rajagopal, G.; P Amaresh Reddy

    2010-01-01

    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...

  4. CONGENITAL DISLOCATION OF RIGHT HIP JOINT: IMPORTANCE OF DYNAMIC ASSESSMENT

    OpenAIRE

    Pranita viveki; R. G. Viveki

    2014-01-01

    Congenital Dislocation of Hip (CDH), is one of the most common congenital diseases in the orthopedic field. It is also known as Developmental Dysplasia of Hip. The condition can be diagnosed by clinical, ultrasonographic and radiological examination. Here we are reporting two days old male baby with congenital dislocation of right hip joint. The goal of treatment is to obtain a reduction to provide an optimal environment for femoral head and acetabular development. Early diagnosis is the mo...

  5. Congenital cardiology: recent advances emphasise the need for collaboration

    OpenAIRE

    Mulder, B.J.M.

    2006-01-01

    The population of adult patients with congenital heart disease is steadily growing, due to the developments in cardiac surgery and thereby decreased mortality. However, morbidity in these patients is substantial. Patients with repaired lesions often need reoperations later in life. Most congenital heart defects, operated or not, have the potential to lead to clinical heart failure. Arrhythmias affect up to 50% of patients with congenital heart disease. The prevalence of pulmonary hypertension...

  6. 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…

  7. Digital breast tomosynthesis (DBT): initial experience in a clinical setting

    International Nuclear Information System (INIS)

    false-positive findings. The side-by-side feature analysis showed higher conspicuity scores for tomosynthesis compared to conventional 2D for cancers presenting as spiculated masses and distortions. Conclusion: Tomosynthesis is a promising new technique. Our preliminary clinical experience shows that there is a potential for increasing the sensitivity using this new technique, especially for cancers manifesting as spiculated masses and distortions

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

    Directory of Open Access Journals (Sweden)

    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

  9. A Short Version of the Revised ‘Experience of Close Relationships Questionnaire’: Investigating Non-Clinical and Clinical Samples

    OpenAIRE

    Wongpakaran, Tinakon; Wongpakaran, Nahathai

    2012-01-01

    Aim: This study seeks to investigate the psychometric properties of the short version of the revised ‘Experience of Close Relationships’ questionnaire, comparing non-clinical and clinical samples. Methods: In total 702 subjects participated in this study, of whom 531 were non-clinical participants and 171 were psychiatric patients. They completed the short version of the revised ‘Experience of Close Relationships’ questionnaire (ECR-R-18), the Perceived Stress Scale-10(PSS-10), the Rosenberg ...

  10. 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

  11. 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...

  12. Non-immune hydrops fetalis: Clinical experience in newborn infants

    Directory of Open Access Journals (Sweden)

    Pejić Katarina

    2011-01-01

    Full Text Available Introduction. Non-immune hydrops fetalis is a condition of excessive accumulation of extravascular fluid without identifiable circulating antibody to erythrocytes membrane antigens. In newborn infants it is characterized by skin oedema and pleural, pericardial or peritoneal effusion. In the era of routine Rh immunization for the prevention of foetal erythroblastosis, non-immune pathophysiologic mechanisms are presented in 76-87% of all hydropic newborns. Non-immune hydrops fetalis can be associated with numerous and various disorders. The mortality rate may exceed 50%. This study was aimed at presenting our clinical experience in treating newborn infants with non-immune hydrops fetalis. Material and methods. A retrospective-prospective study included newborn infants with non-immune hydrops fetalis, who were treated in the Neonatal Intensive Care Unit of Mother and Child Health Institute of Serbia between January 1, 2001 and October 31, 2010. All valid data about aetiology, diagnosis, clinical course and outcome were recorded. Results. The diagnosis of non-immune hydrops fetalis was made in 11 newborns. The etiologic diagnosis was established in 8 patients: anaemia due to fetomaternal transfusion in 4 patients and conatal cytomegalovirus infection, intracranial haemorrhage, isolated pulmonary lymphangiectasia and diffuse skin and mediastinal lymphangiomatosis in the remaining 4 patients. Conclusion. Non-immune hydrops of newborn infant is associated with a high mortality rate and requires complex diagnostic and therapeutic procedures. An optimal management of neonates with non-immune hydrops fetalis demands a multidisciplinary approach to the treatment in a neonatal intensive care unit.

  13. Computer-Assisted Radiographic Calculation of Spinal Curvature in Brachycephalic “Screw-Tailed” Dog Breeds with Congenital Thoracic Vertebral Malformations: Reliability and Clinical Evaluation

    OpenAIRE

    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...

  14. Impact of Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More The Impact of Congenital Heart Defects Updated:Oct 21,2015 ... is an important part of successful coping. The Impact of Congenital Heart Defects • Home • About Congenital Heart ...

  15. 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.

  16. 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.)

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

    International Nuclear Information System (INIS)

    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

  18. Single photon emission computed tomography: A clinical experience

    International Nuclear Information System (INIS)

    In the past decade, single photon emission computed tomography (SPECT) has evolved from an experimental technique used only in academic settings to a routine clinical examination performed in many community hospitals. Responding to reports of increased diagnostic efficacy, many nuclear medicine physicians have chosen to make SPECT imaging a routine technique for bone, liver, spleen, heart, and brain imaging. However, the enthusiasm for SPECT is not universal. Most nuclear medicine physicians continue to rely primarily on planar imaging, with little or no routine use of SPECT. This milieu has left many physicians asking themselves the following practical questions: Can SPECT be done easily in my hospital? Will not doing SPECT reduce the competitiveness of my nuclear medicine laboratory? The authors' experience at an institution heavily committed to SPECT for over 5 years may be helpful in answering these types of questions. The first rotating gamma camera at the Milwaukee Regional Medical Center was installed in late 1981. At present the authors have eight gamma cameras, of which four routinely perform SPECT examinations. Between 1981 and 1986, over 4,000 SPECT examinations have been performed

  19. Normothermic donor heart perfusion: current clinical experience and the future.

    Science.gov (United States)

    Messer, Simon; Ardehali, Abbas; Tsui, Steven

    2015-06-01

    Following the first successful heart transplant in 1967, more than 100,000 heart transplants have been carried out worldwide. These procedures have mostly relied on cold ischaemic preservation of the donor heart because this simple technique is inexpensive and relatively reliable. However, the well-known limitations of cold ischaemic preservation imposes significant logistical challenges to heart transplantation which put a ceiling on the immediate success on this life-saving therapy, and limits the number of donor hearts that can be safely transplanted annually. Although the theoretical advantages of normothermic donor heart perfusion have been recognised for over a century, the technology to transport donor hearts in this state has only been developed within the last decade. The Organ Care System (OCS) which is designed and manufactured by TransMedics Inc. is currently the only commercially available device with this capability. This article reviews the history of normothermic heart perfusion and the clinical experience with the TransMedics OCS to date. We have also attempted to speculate on the future possibilities of this innovative and exciting technology. PMID:24853906

  20. Pediatric congenital vertebral artery arteriovenous malformation.

    Science.gov (United States)

    Shownkeen, Harish; Bova, Davide; Chenelle, Andrew G; Origitano, Thomas C

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. PMID:12695869

  1. Pediatric congenital vertebral artery arteriovenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shownkeen, Harish; Chenelle, Andrew G.; Origitano, Thomas C. [Department of Neurologcal Surgery, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153 (United States); Bova, Davide [Department of Radiology, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153 (United States)

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

  2. Pediatric congenital vertebral artery arteriovenous malformation

    International Nuclear Information System (INIS)

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

  3. 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.

  4. STUDY OF A TYPICAL PRESENTATIONS IN CONGENITAL DIAPHRAGMATIC HERNIA

    OpenAIRE

    Venkata Ramana; Srilakshmi; Rao; Kameswari

    2015-01-01

    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 ...

  5. 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.

  6. 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.

  7. An eight-year clinic experience with clozapine use in a Parkinson's disease clinic setting.

    Directory of Open Access Journals (Sweden)

    Nawaz Hack

    Full Text Available BACKGROUND: To examine our eight year clinic-based experience in a Parkinson's disease expert clinical care center using clozapine as a treatment for refractory psychosis in Parkinson's disease (PD. METHODS: The study was a retrospective chart review which covered eight years of clozapine registry use. Statistical T-tests, chi-square, correlations and regression analysis were used to analyze treatment response for potential associations of age, disease duration, and Hoehn & Yahr (H&Y score, and degree of response to clozapine therapy. RESULTS: There were 36 participants included in the analysis (32 PD, 4 parkinsonism-plus. The characteristics included 30.6% female, age 45-87 years (mean 68.3±10.15, disease duration of 17-240 months (mean 108.14±51.13 and H&Y score of 2 to 4 (mean 2.51±0.51. The overall retention rate on clozapine was 41% and the most common reasons for discontinuation were frequent blood testing (28%, nursing home (NH placement (11% and leucopenia (8%. Responses to clozapine across the cohort were: complete (33%, partial (33%, absent (16%, and unknown (16%. Age (r = -0.36, p0.05. CONCLUSIONS: This single-center experience highlights the challenges associated with clozapine therapy in PD psychosis. Frequent blood testing remains a significant barrier for clozapine, even in patients with therapeutic benefit. Surprisingly, all patients admitted to a NH discontinued clozapine due to logistical issues of administration and monitoring within that setting. Consideration of the barriers to clozapine therapy will be important to its use and to its continued success in an outpatient setting.

  8. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

    OpenAIRE

    Guillermo Lay-Son; Karena Espinoza; Cecilia Vial; Juan C. Rivera; María L. Guzmán; GABRIELA M REPETTO

    2015-01-01

    OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogeneti...

  9. Congenital Hepatic Fibrosis

    Directory of Open Access Journals (Sweden)

    MH Antikchi

    2010-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis.

  10. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik;

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia i...

  11. 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

  12. Clinical experience for radiolucent stones; A report of 27 cases

    International Nuclear Information System (INIS)

    The cause of radiolucent filling defects in the upper urinary tract are malignant tumor, radiolucent stones, blood clots, air bubbles, congenital deformities of renal parenchyme, and various specific and non-specific infection and their sequence. So the differential diagnosis between malignancy and radiolucent stones is very important, and the exact and fast diagnosis of radiolucent stones is useful in excluding the possibility of malignancy. 27 cases with radiolucent stones were evaluated retrospectively for exact diagnosis and appropriate treatment method. Intravenous urography was done in all cases, and retrograde pyelography, ultrasonography, computed tomography and/or ureterorenoscopy were performed for diagnosis, if needed. Size of stones were measured below 10mm by transverse length in 19 cases (70.4%) with a range of 3 to 30mm. The locations of stones were pelvicalyceal system in 8 cases (29.6%) and ureter in 19 cases (70.4%). Among the diagnostic methods, computed tomography was used most frequency. ESWL with retrograde pyelography was most frequent used method of treatment, also simple hydration to small stone was effective. (author)

  13. Laser Ablation Of Atrial Fibrillation: Mid-term Clinical Experience

    Directory of Open Access Journals (Sweden)

    Li Poa, MD

    2009-08-01

    Full Text Available Background: Atrial Fibrillation is known to account for one third of all the strokes caused in the US in the population above the age of 70. Patients treated with the surgical Cox MAZE operation have been shown to have a 150 fold decrease in the incidence of stroke over an 18 year period. However, the original Cox MAZE although extremely successful in treating atrial fibrillation and decreasing the incidence of strokes was not performed widely because of complexity and invasiveness of the procedure. A variety of alternative energy based curative ablation strategies are now available for more minimally invasive therapeutic management of atrial fibrillation (AF. In this communication, we report our clinical experience in AF therapy utilizing laser energy ablation technology. Methods: Fifty two consecutive AF patients underwent concomitant or isolated ablation prior to any coexisting cardiac procedures that included CABG (coronary artery bypass surgery, MV (mitral valve or AV (aortic valve repairs. All patients had an epicardially based ablation pattern with basic lesions being en bloc box type pulmonary vein isolation which included the antral surface of the left atrium, directed ganglionectomies of the the right anterior and inferior ganglions, posteriomedial ablation of the IVC ( inferior vena cava, and a right isthmus ablation. Twenty seven patients had ligation of their left atrial appendage, 14 patients had resection of the ligament of Marshall, and three patients had endocardial placed lesions of a mitral annular connecting type lesion. In order to maintain the patients in normal sinus rhythm (NSR, electrical cardioversion and anti-arrhythmic drugs were employed as required. Results: At a median follow-up of 250 days, 44 of the total 52 patients (84.6% exhibited NSR.. No complications or mortality were reported due to the laser procedure. Conclusion: Laser ablation was successfully and safely used for endocardial and epicardial AF ablation

  14. 先天性心脏病的临床护理分析%Analysis of Clinical Nursing of Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    2013-01-01

    Objective To summarize the nursing points of interventional treatment of congenital heart disease, improve the quality of nursing care. Methods Selected in our hospital from 2011 December to 2013 January 24 cases of children with congenital heart disease, interventional nursing before operation for treatment of children with congenital heart disease in children, nursing and postoperative care and cooperation during the operation. Results 26 patients were successfully completed the intervention, returned to the wards. Conclusion Preoperative, intraoperative cooperation and nursing is a prerequisite for interventional therapy smoothly, and postoperative nursing is the key of interventional therapy in children with safety discharge.%  目的总结先天性心脏病介入治疗的护理要点,提高护理质量。方法选取我院2011年12月至2013年1月24例先天性心脏病患儿,对先天性心脏病患儿行介入治疗的患儿行术前护理,术中配合与护理及术后护理。结果26例患儿顺利完成介入治疗术,返回病房。结论术前护理、术中配合与护理是保障介入治疗顺利进行的前提,而术后护理是介入治疗术患儿安全出院的关键。

  15. 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

  16. 先天性多指畸形X线表现与临床分型对照分析%Analysis of radiographic manifestations of congenital polydactyly and clinical classification

    Institute of Scientific and Technical Information of China (English)

    王亚军; 李胜; 余永桂

    2013-01-01

    Objective:To investigate the radiographic manifestations and their significance for clinical classification of congenital polydactyly,in order to provide improvement of its classification. Methods: Wassel and Stelling Twrek classifica tion was used as the basis of study,the radiographic manifestations and clinical materials of 85 cases with congenital poly dactyly (a total of 91 sick hands) were recruited,mainly to study the incidence of gender,type,location,characteristics and radiographic findings of congenital polytactyly. According to the radiographic manifestations, suggestion for further lm provement of classification was attempted. Results; All patients had been correctly diagnosed by radiography before surgery. Congenital polytactyly occurred at one hand accounts for 92. 94% (79/85 cases) ,mainly the right hand (the ratio of inci dence of left and right hands was approximately 0. 65: 1). The incidence of males was higher than that of females with the ratio as 3. 7 :1. Preaxial polydactyly was more common than Postaxial polydactyly,with the ratio being 9. 1:1. According to Wassel and Stelling Twrek classification,the most common type was Type IV with the incidence being approximately 51. 22% (42/82 cases) in preaxial polydactyly patients. However,there were about 4. 88% (4/82 cases) polydactyly patients which could not be classified yet. Conclusion:Congenital polydactyly is frequently seen. Preoperative radiographic examina tion is helpful not only for the classification but also for surgical planning. Yet improvement of clinical classification needs further study.%目的:探讨先天性多指畸形的X线表现及临床分型意义,总结经验并尝试性对分类方法进行完善.方法:以Wassel分类法和Stelling-Twrek分类法为依据,回顾性分析85例先天性多指畸形(91只病手)的X线表现及临床资料,主要观察先天性多指畸形的发病性别、类型、部位、特点及X线表现,依据本组病例X线表现尝试性对分

  17. 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. PMID:25198374

  18. 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.

  19. 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. PMID:25198374

  20. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

    Bamforth, J S; Hughes, I; Lazarus, J; John, R.

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities.

  1. Congenital Triangular Alopecia.

    Science.gov (United States)

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  2. 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.

  3. Congenital parotid fistula.

    Science.gov (United States)

    Natasha, Shiggaon

    2014-01-01

    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. PMID:25231049

  4. Congenital mesoblastic nephroma: case report

    OpenAIRE

    POLAT, Mesut; Arisoy, Resul; Erdoğdu, Emre; ANGIN, A.Doğukan; TUĞRUL, Ahmet Semih

    2014-01-01

    Aim: Aim of the report is discuss the case who was prenatally diagnosed as congenital mesoblastic nephroma and  postnatal managenent. Case: We reported a case of 27 year old gravida 3, parity 1, abortion 1 referred to our clinic with the diagnosis of preterm labour and polihydramniosis at 34. gestational week. The ultrasonografic examination of the patient, with no antenatal follow up before, revealed a fetal biometry of 33 weeks and polyhydramniosis. A 63x66 mm solid mass with reguler border...

  5. 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.

  6. 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. PMID:27429141

  7. Developing a leadership pipeline: the Cleveland Clinic experience

    OpenAIRE

    Hess, Caryl A.; Barss, Christina; Stoller, James K

    2014-01-01

    The complexity of health care requires excellent leadership to address the challenges of access, quality, and cost of care. Because competencies to lead differ from clinical or research skills, there is a compelling need to develop leaders and create a talent pipeline, perhaps especially in physician-led organizations like Cleveland Clinic. In this context, we previously reported on a cohort-based physician leadership development course called Leading in Health Care and, in the current report...

  8. Congenital fibrosis of the extraocular muscles

    Directory of Open Access Journals (Sweden)

    Pascale Cooymans

    2010-01-01

    Conclusions : CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

  9. Childhood victimisation and developmental expression of non-clinical delusional ideation and hallucinatory experiences: victimisation and non-clinical psychotic experiences

    OpenAIRE

    Lataster, Tineke; van Os, Jim; Drukker, Marjan; Henquet, Cécile; Feron, Frans; Gunther, Nicole; Myin-Germeys, Inez

    2006-01-01

    Victimisation in childhood may be associated with adult psychosis. The current study examined this association in the crucial developmental period of early adolescence and investigated whether (1) unwanted sexual experiences, and (2) being bullied, were associated with non-clinical delusional ideation and hallucinatory experiences in a general population sample of 14 year olds.

  10. 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.

  11. Clinical treatment discussion of neonatal congenital megacolon combined with enterocolitis%新生儿先天性巨结肠合并小肠结肠炎的临床治疗

    Institute of Scientific and Technical Information of China (English)

    谢文雅

    2015-01-01

    目的:探讨新生儿先天性巨结肠合并小肠结肠炎的临床治疗方法。方法:2013年2月-2014年10月收治新生儿先天性巨结肠合并小肠结肠炎患儿60例,随机分为观察组和对照组,各30例。对照组为采用保守治疗方法的患儿,观察组为保守治疗无效行肠造瘘术手术治疗的患儿,对比和分析两组患者的治疗效果。结果:观察组治愈率86.7%,对照组治愈率96.6%,观察组的治愈率高于对照组,差异具有统计学意义(P<0.05)。结论:对先天性巨结肠合并小肠结肠炎新生儿采取肠造瘘术治疗效果好,值得临床参考。%Objective:To explore clinical treatment method of neonatal congenital megacolon combined with enterocolitis.Methods:60 children patients with neonatal congenital megacolon combined with enterocolitis were selected from February 2013 to October 2014.They were randomly divided into the observation group and the control group with 30 cases in each.The control group was the children with conservative treatment method,the observation group was the children with enterostomy operation treatment after invalid conservative treatment.The treatment effects of patients in two groups were compared and analyzed.Results:The cure rate of the observation group was 86.7%,the cure rate of the control group was 96.6%,the cure rate of the observation group was higher than that of the control group,the difference was statistically significant(P<0.05).Conclusion:Using enterostomy in the treatment of neonatal congenital megacolon combined with enterocolitis has good effect.It is worthy of clinical use and reference.

  12. Congenital generalized lipodystrophia: a case report

    International Nuclear Information System (INIS)

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

  13. Congenital myasthenic syndromes and transient myasthenia gravis.

    Science.gov (United States)

    Gajda, Anna; Szabó, Hajnalka; Gergev, Gyurgyinka; Karcagi, Veronika; Szabó, Nóra; Endreffy, Emoke; Túri, Sándor; Sztriha, László

    2013-05-30

    Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis. PMID:23909021

  14. Congenital bilateral perisylvian syndrome with hydrocephalus

    Directory of Open Access Journals (Sweden)

    Salih Hattapoğlu

    2012-12-01

    Full Text Available Congenital bilateral perisylvian syndrome (CBPS, whichis seen by indications of mental retardasyon, epilepsi,speech disorder and pseudobulbar palsy, is a diseasewhich comes up with genetic and non-genetic reasons.Revealing characteristic indications (like polymicrogyriawith MR imaging and clinic indications contributes makingdiagnosis. In present paper, we aimed to present 18month girl case report who diagnosed as CBPS with hydrocephaliindication. J Clin Exp Invest 2012; 3(4: 552-554Key words: Epilepsy, congenital bilateral perisylviansyndrome, polymicrogyria, hydrocephalus, pseudobulbarpalsy

  15. Congenital nephrotic syndrome. Gallium-67 imaging

    Energy Technology Data Exchange (ETDEWEB)

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-11-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented.

  16. Congenital syphilis: subtle presentation of fulminant disease.

    Science.gov (United States)

    Bennett, M L; Lynn, A W; Klein, L E; Balkowiec, K S

    1997-02-01

    The incidence of congenital syphilis has experienced a fourfold to fivefold increase in 6 years. It is a completely preventable disease whose clinical spectrum ranges from asymptomatic infection, to fulminant sepsis, to death. Congenital syphilis was diagnosed in a 6-week-old infant whose mother was negative for the disease by prenatal screen. The otherwise well child presented with a generalized, papulosquamous eruption of 3 weeks' duration but within hours multisystem failure developed from overwhelming treponemal sepsis. Factors related to increased incidence, problems in serodiagnosis, manifestations of the early versus late forms of the disease, and recommendations for evaluation and treatment are illustrated by this patient and are discussed. PMID:9039217

  17. Causes of Congenital Malformations

    OpenAIRE

    J Gordon Millichap

    2002-01-01

    The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock, AS.

  18. Leber Congenital Amaurosis

    Science.gov (United States)

    ... Congenital Amaurosis Macular Degeneration Retinitis Pigmentosa Stargardt Disease Usher Syndrome Other Retinal Diseases Glossary News & Research News & ... affected by retinitis pigmentosa, age-related macular degeneration, Usher syndrome and the entire spectrum of retinal diseases. ...

  19. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  20. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  1. Nursing Experience of Congenital Heart Disease in Infants and Children with Pulmonary Infection%小儿先天性心脏病合并肺部感染的护理体会

    Institute of Scientific and Technical Information of China (English)

    夏伟

    2015-01-01

    通过38例先心病并肺部感染患儿的护理工作总结护理经验,并通过治疗护理前后患儿BNP水平,评价治疗护理疗效。结果显示精心的护理是使患儿尽快恢复的重要措施,其中保持呼吸道通畅、病情观察是关键,健康教育、生活护理和心理护理是重点。%To investigate the nursing experience of congenital heart disease in infants and children with pulmonary infection by summarizing the 38 cases of nursing experience in children with congenital heart disease and pulmonary infection.In addition,level of brain natriuretic peptide was compared before and after treatment/nursing. Meticulous care is the important measure to recover as soon as possible,and keep the air way open and observe the condition are critical, health education,life care and psychological care are the key factors.

  2. 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…

  3. Congenital tumors of the central nervous system

    International Nuclear Information System (INIS)

    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, where aggressive surgical treatment leads to disease

  4. 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

  5. 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…

  6. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    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 ma...

  7. Congenital Cystic Lung Diseases

    Directory of Open Access Journals (Sweden)

    Aditi Jain

    2013-01-01

    Full Text Available Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

  8. Congenital chylous ascites

    OpenAIRE

    Romańska-Kita, Justyna; Borszewska-Kornacka, Maria Katarzyna; Dobrzańska, Anna; Rudzińska, Iwona; Czech-Kowalska, Justyna; Wawrzoniak, Tomasz

    2011-01-01

    Summary Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity.

  9. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  10. Review of clinical experience with ion beam radiotherapy

    OpenAIRE

    Jensen, A D; Münter, M W; Debus, J.

    2011-01-01

    The article describes both the early development of oncology as a core discipline at the University of Heidelberg Hospital and the first steps towards ion beam treatment, from the pilot project carried out in co-operation with the Gesellschaft für Schwerionenforschung Darmstadt to the initial start-up of clinical service at the Heidelberg Heavy Ion Centre (HIT). We present an overview, based on data published in the literature, of the available clinical evidence relating the use of ion beam t...

  11. 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…

  12. 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.

  13. Managing University Clinical Partnership: Learning from International Experience

    Science.gov (United States)

    Davies, Stephen; Smith, Tom

    2004-01-01

    Dialogue between the leaders of academic clinical organisations in different countries has revealed that the core elements of the partnership between universities and health care systems are remarkably consistent across national boundaries. There is now an impetus to move beyond analysis of common challenges and towards strategies for success that…

  14. Congenital multiple infantile myofibromatosis: Radiological findings

    International Nuclear Information System (INIS)

    Infantile myofibromatosis (IM) is the most common mesenchymal tumor during childhood. At present, these lesions are classified as solitary myofibromatosis, congenital multiple myofibromatosis associated with multicentric lesions and no organ involvement, and congenital generalized myofibromatosis with skin and visceral involvement. The most frequent presenting sign consists of hard masses located in the skin, subcutaneous tissue, muscle, bone and/or organs. Sixty percent of these lesions are present at birth, and 88% develop during the first two years of life. The disease usually resolves spontaneously. Although the definitive diagnosis is based on the pathological study, knowledge of the radiological features of these lesions is of great value for distinguishing them from malignant mesenchymal tumor. We describe the clinical and pathological features as well as the radiological findings in a newborn with congenital IM who was born with masses in skin, subcutaneous tissue and muscles, but presented no organ involvement. (Author) 15 refs

  15. 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.

  16. Improving biological relevancy of transcriptional biomarkers experiments by applying the MIQE guidelines to pre-clinical and clinical trials.

    Science.gov (United States)

    Dooms, M; Chango, A; Barbour, E; Pouillart, P; Abdel Nour, A M

    2013-01-01

    The "Minimum Information for the Publication of qPCR Experiments" (MIQE [3]) guidelines are very much targeted at basic research experiments and have to our knowledge not been applied to qPCR assays carried out in the context of clinical trials. This report details the use of the MIQE qPCR app for iPhone (App Store, Apple) to assess the MIQE compliance of one clinical and five pre-clinical trials. This resulted in the need to include 14 modifications that make the guidelines more relevant for the assessment of this special type of application. We also discuss the need for flexibility, since while some parameters increase experimental quality, they also require more reagents and more time, which is not always feasible in a clinical setting. PMID:22910527

  17. 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.

  18. Clinical use of Insulin Degludec: Practical Experience and Pragmatic Suggestions

    OpenAIRE

    Sanjay Kalra; Yashdeep Gupta

    2015-01-01

    Insulin degludec (IDeg) is an ultralong acting basal insulin. IDeg has unique pharmacokinetic and pharmacodynamic properties which allow once a daily dosage, at any time of the day. Its use is associated with a significantly lower risk of hypoglycemia. This review discusses the pragmatic use of IDeg, based on available evidence. A complete search of all nine original research papers (BEGIN® clinical trial program) pertaining to IDeg, listed in PubMed, was made to prepare this article.

  19. Experiences with cerebrospinal fluid analysis in Dutch memory clinics

    OpenAIRE

    Spies, P.E.; Slats, D.; Ramakers, I.; Verhey, F.R.J.; Olde Rikkert, M.G.M.

    2011-01-01

    BACKGROUND: Evidence on cerebrospinal fluid (CSF) analysis to demonstrate Alzheimer's disease has not yet been implemented in diagnostic guidelines. METHODS: We investigated the use of CSF analysis in a survey amongst all known memory clinics in the Netherlands, of which 85 of 113 (75.2%) responded. RESULTS: Sixty per cent of respondents used CSF analysis in 5% (median) of patients. The analysis almost always confirmed the working diagnosis in 68.4% and sometimes changed it in 28.2%. Complica...

  20. Clinical course of ectopic pregnancy: A single-center experience

    OpenAIRE

    Aqueela Ayaz; Sameh Emam; Mian Usman Farooq

    2013-01-01

    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...

  1. Clinical experience with a PACS module in pediatric radiology

    International Nuclear Information System (INIS)

    This paper describes a PACS module for pediatric radiology that has thus far been used to conduct daily X-ray rounds as well as for fast patient reviews during all hours of the day. The clinical operation of this system including patient registration, image acquisition, image management, and patient case reviews is presented. A PACS system operator is responsible for the daily maintenance of the system. These responsibilities are outlined

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

    OpenAIRE

    Sueli Regina Gallo-Belluzzo; Elisa Corbett; Tania Maria Jose Aiello-Vaisberg

    2013-01-01

    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 met...

  3. Targeted Therapies for Lung Cancer: Clinical Experience and Novel Agents

    OpenAIRE

    Larsen, Jill E.; Cascone, Tina; Gerber, David E.; Heymach, John V; Minna, John D.

    2011-01-01

    Although lung cancer remains the leading cancer killer in the United States, recently a number of developments indicate future clinical benefit. These include evidence that computed tomography–based screening decreases lung cancer mortality, the use of stereotactic radiation for early-stage tumors, the development of molecular methods to predict chemotherapy sensitivity, and genome-wide expression and mutation analysis data that have uncovered oncogene “addictions” as important therapeutic ta...

  4. Chest wall tuberculosis - A clinical and imaging experience

    International Nuclear Information System (INIS)

    Tuberculous infection of the thoracic cage is rare and is difficult to discern clinically or on radiographs. This study aims to describe the common sites and the imaging appearances of chest wall tuberculosis. A retrospective review of the clinical and imaging records of 12 confirmed cases of thoracic cage tuberculosis (excluding that of the spine), seen over the last 7 years, was performed. Imaging studies available included radiographs, ultrasonographies (USGs), and computed tomography (CT) scans. Pathological confirmation was obtained in all cases. All patients had clinical signs and symptoms localized to the site of involvement, whether it was the sternum, sternoclavicular joints, or ribs. CT scan revealed sternal destruction in three patients and osteolytic lesions with sclerosis of the articular surfaces of the sternoclavicular joints in two patients. In five patients with rib lesions, USG elegantly demonstrated the bone destruction underlying the cold abscess. All cases were confirmed to be of tuberculous origin by pathology studies of the aspirated/curetted material, obtained by CT / USG guidance. Tuberculous etiology should be considered for patients presenting with atypical sites of skeletal inflammation. CT scan plays an important role in the evaluation of these patients. However, the use of USG for demonstrating rib destruction in a chest wall cold abscess has so far been under-emphasized, as has been the role of CT and USG guided aspiration in confirming the aetiology

  5. Knowledge Management: Experiences in Academic and Clinic Environments

    Directory of Open Access Journals (Sweden)

    Martha Torres Narváez

    2014-05-01

    Full Text Available This article describes the knowledge management practices derived from clinical research, and some hospitals and academic institutions in Colombia. The profile of these institutions and the variables involved in knowledge management and research are presented. Objective: Exploring the practices that some Colombian institutions have to build or strengthen their capacity to con-duct clinical research. Materials and methods: We conducted an exploratory study by consulting a convenience sample, the use of specific practices in knowledge management. In a documentary analysis on knowledge management. The information was obtained of primary sources by semi-structured interview applied to selected key players. Results: In the institutions that participated in the study, it was observed as determinants in knowledge management: structure and strategic management, intellectual capital, technological resources, and the continuity and sustainability of the processes. Conclusion: Include research processes in services delivery institutions is criti¬cal to improving the quality of health care and encourage their intellectual capital. Colombia has institutions working with determination to the generation of knowledge from clinical practice.

  6. 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.

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

    OpenAIRE

    Linda Dune; Renae Schumann; Kristin Ownby; 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...

  8. Suicide Loss Survivors' Experiences with Therapy: Implications for Clinical Practice.

    Science.gov (United States)

    Sanford, Rebecca; Cerel, Julie; McGann, Vanessa; Maple, Myfanwy

    2016-07-01

    Over two-thirds of suicide loss survivors, those who have lost a loved one to suicide, seek individual therapy following their loss. However, nothing is known about what survivors find helpful about therapy or how therapy impacts their grief. An online survey was conducted June 2012-March 2013 with a convenience sample of 197 survivors primarily from the USA and Australia to develop a better understanding of treatment seeking loss survivors and their experiences in therapy. Questions explored the experience of the suicide death, the therapy received after the loss, and insights about improving therapy for loss survivors. Participants were generally positive about their therapy experiences. However, respondents endorsed symptoms of PTSD, though many did not report a formal diagnosis from a provider, suggesting a discrepancy that could lead to inadequate treatment of symptoms. The findings provide an understanding of treatment seeking loss survivors, along with implications for therapists treating this population. PMID:27074845

  9. 小儿先天性双肾积水35例临床分析%Bilateral congenital hydronephrosis in children: clinical analysis of 35 cases

    Institute of Scientific and Technical Information of China (English)

    张恒; 卢根生; 李新; 沈文浩; 熊恩庆; 方强; 宋波; 周占松

    2013-01-01

    Objective To explore the mechanism and therapy of bilateral congenital hydronephrosis in children. Methods The medical history, radiographic studies, urodynamic results and therapies of 35 children were analyzed retrospectively. Results Among the 35 patients with bilateral hydronephrosis, 32 cases were lower urinary tract dysfunction and 3 cases were upper urinary tract obstruction, residual u-rine volume of 25 cases exceed 100 mL and bladder storage pressure of 28 cases were more than 40 cmH2O. The 16 cases with posterior ure-thral valve accepted valvectomy, 10 cases with neurogenic bladder treated by self-cleaning catheterization and sacral nerve stimulation,4 cases accepted colliculectomy, 2 cases with phimosis accepted circumcision, 1 case with bilateral ureteropelvic junction stenosis accepted ureteropel-vic stricture plasty,2 cases with bilateral lower ureteral obstruction received ureterovesical reimplantation. All patients were followed up for more than six months and found hydronephrosis significantly alleviated. Conclusion Vesical pressure over safe pressure result from lower u-rinary tract voiding dysfunction is the most common reason of bilateral congenital hydronephrosis in children. To depress the vesical pressure until lower than the safe pressure in time is crucial for the treatment of patients with bilateral congenital hydronephrosis.%目的 探讨小儿先天性双肾积水的发病机制及治疗策略.方法 回顾分析35例小儿先天性双肾积水的尿动力学、泌尿影像、肾脏功能检查及外科治疗的临床资料.结果 下尿路排尿功能障碍32例,上尿路梗阻3例;25例残余尿量超过100mL,28例膀胱储尿期压力大于40 cmH2O.16例行后尿道瓣膜切除术;10例神经源性膀胱行自身清洁导尿及骶神经电刺激治疗,4例行精阜切除术,2例行包皮环切术,1例双侧肾盂输尿管交界部狭窄行离断成形术,2例行输尿管膀胱再植术.术后随访6个月以上,双肾

  10. 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.

  11. 乙状结肠代阴道成形术治疗先天性无阴道的疗效分析%Clinical effect of sigmoid colon vaginoplasty in treatment of congenital absence of vagina

    Institute of Scientific and Technical Information of China (English)

    唐素蓉; 藤青芳; 张晓丹

    2014-01-01

    Objective To discuss the clinical effect of sigmoid colon vaginoplasty in the treatment of patients with congenital absence of vagina. Methods 4 patients with the congenital absence of vagina treated in this hospital from February 2011 to August 2013 received the treatment of sigmoid colon vaginoplasty. Their average operation time, intraoperative hematoma volume, postoperative complications and postoperative vaginal structure and function were observed. Results 4 patients with the congenital absence of vagina who received the sigmoid colon vaginoplasty were all successful in the operation, with the average operation time of (140.5±26.5)min and average hematoma volume of (118.4±4.5)mL. The vagina formed by the sigmoid colon surgery was close to the normal one in the shape and patients were satisfied with the sex life without any intraoperative or postoperative complication. Conclusion After receiving the sigmoid colon vaginoplasty, patients with the congenital absence of vagina have their operation-formed vaginas basically similar to normal ones in the structure and function. It is characterized by the safe operation, short operation time, limited hematoma volume and little complications, which is worthy to be popularized in the clinical practice.%目的:研究探讨应用乙状结肠代阴道成形术治疗先天性无阴道患者的临床疗效。方法对我院2011年2月~2013年8月收治的先天性无阴道患者4例进行分析,采用乙状结肠代阴道成形术治疗,观察4例采用乙状结肠代阴道成形术的平均手术时间、手术时出血量、手术后的并发症以及手术后阴道的结构和功能的情况。结果采用乙状结肠代阴道成形术治疗的4例先天性无阴道患者手术均获得成功,而且手术的平均时间为(140.5±26.5)min,平均出血量为(118.4±4.5)mL。用乙状结肠手术成的阴道在形态上与正常女性阴道接近,并且患者性生活感觉满意,没有发生手

  12. Caracterización clínica y epidemiológica de las cardiopatías congénitas Clinical and epidemiological characterization of congenital heart diseases

    Directory of Open Access Journals (Sweden)

    Yanett Sarmiento Portal

    2013-04-01

    Full Text Available Introducción: las cardiopatías congénitas constituyen un grupo heterogéneo de defectos morfofuncionales del corazón y los vasos sanguíneos. Objetivo: caracterizar los factores clínicos y epidemiológicos asociados a las cardiopatías congénitas. Material y Método: se realizó un estudio observacional, analítico, tipo caso-control en el servicio de Neonatología del Hospital "Abel Santamaría", años 2010-11. El universo lo constituyeron los 11 138 nacidos vivos en dicho período. La muestra se dividió en Grupo Estudio: 70 niños con diagnóstico de CC en el período neonatal y Grupo Control: 140 recién nacidos a término, nacidos consecutivos a los del estudio, tomando dos controles por cada caso. Se utilizó el test de Ji Cuadrado con nivel de significación pIntroduction: congenital heart diseases constitute a heterogeneous group of heart morpho-functional and blood vessels defects. Objective: to characterize clinical and epidemiological factors associated with congenital heart diseases. Material and method: an observational, analytical, case-control type study was carried out in neonatology service at "Abel Santamaria Cuadrado" University Hospital during 2010-2011. The target group was comprised of 11 138 newborn infants in such period. The sample was divided into: Study Group (70 newborn infants having the diagnosis of congenital heart disease in the neonatal period and a Control Group: 140 at term newborn infants, born consecutively of those included into the Study Group, taking two controls per each case. Chi-square test with a level of significance p<0.05 and the odd ratio were used to determine the strength of association among the variables. Results: the incidence of heart diseases during the period was 6,3 per 1000 alive newborn infants. Maternal ages between 20 and 34 years old prevailed, where anaemia was the most prevailing disease found in the study group (17,1%, which was a risk factor. Toxic habits were present in 58

  13. 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. PMID:23949724

  14. Pathophysiology, clinical manifestation and management of angioedema - our experience

    Directory of Open Access Journals (Sweden)

    Aleksić Aleksandra

    2015-01-01

    Full Text Available Introduction. Angioedema is characterized by subcutaneous and/or submucosal swelling usually localized to the lips, eyelids, tongue, oral cavity, larynx and pharynx. Various types of angioedema, caused by different pathophysiologic mechanisms, can have the same or very similar clinical picture and require different diagnostic and therapeutic procedures. The immediate threat to life as a result of rapidly developed edema of the pharynx and larynx with airway obstruction requires endotracheal intubation or emergency tracheotomy. Standard therapy, which includes epinephrine, second-generation antihistamines and steroids, is not effective in the treatment of all types of angioedema. Objective. On the basis of the clinical presentation and course of angioedema, this retrospective study was aimed at contributing to a better understanding of the etiopathogenesis of the disease and at helping determine the most effective available treatment modalities. Methods. This retrospective study included patients treated under the diagnosis of angioedema of the upper aerodigestive tract between 2000 and 2012 in the Department of Otorhinolaryngology, Clinical Center of Banja Luka. Results. A total of 76 subjects were included in the study. The average age was 62.8 years. There were 40 (52.6% male and 36 (47.4% female patients. The largest number of patients (44.7% had type II angioedema. Almost half of the patients or 36 patients (47.4% were on treatment with an angiotensinconverting enzyme inhibitor (ACEi, but there was no statistically significant difference under the total number of patients (p=0.678. Conclusion. Better understanding of pathophysiologic mechanisms and the adoption of diagnostic protocols contributes to more effective treatment of angioedema.

  15. 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.

  16. Lokomat: Clinical training and experience in a neurorehabilitation hospital

    DEFF Research Database (Denmark)

    Riberholt, Christian Gunge

    2014-01-01

    This presentation aims to give insight into the daily work of walking rehabilitation of patients with severe acquired brain injury (ABI) using the Lokomat© system. The lokomat system offers a high number of repetitions (steps) pr. training session with less physical stress on therapists compared to...... literature lack randomized controlled trials in ABI. Furthermore few trials have specifically investigated the most optimal training strategy for different groups of neurological patients This presentation aims at highlighting some of the strategies and clinical challenges using an evidence-based approach to...

  17. Clinical experience with the THYBIA-assay (TSH-receptorautoantibodies)

    International Nuclear Information System (INIS)

    With a radioreceptorassay (THYBIA-assay) autoantibodies against TSH-receptors were determined among 17 patients with untreated toxic diffuse goiters and in 50 patients with non immunogenic thyroid diseases (33 healthy controls, respectively patients with euthyroid diffuse or nodular goiters as well as 17 patients with toxic regional autonomy). The upper limit of normal is a THYBIA-titer F = 20%. According to the good correlation of positive THYBIA-titers with Graves' ophthalmopathy, clinical secondary criterias and the results of another radioreceptorassays (TRAK-assay) the tested radioreceptorassay seems to be useful in the differentiation of immunogenic and non immunogenic toxic diffuse goiter. (orig.)

  18. The osmotic tissue expander: a three-year clinical experience.

    Science.gov (United States)

    Obdeijn, Miryam C; Nicolai, Jean-Philippe A; Werker, Paul M N

    2009-09-01

    Closure of defects after trauma or excision of neoplasms is a basic skill in plastic surgery. Local, regional and distant flaps lead to additional scars. Skin recruitment by serial excision or skin expansion is a less damaging option for defects that must be closed. Advantages of tissue expansion include good colour and texture match. Disadvantages are the need for a second operation, use of an implant with the attendant risk of infection, time needed for inflation of the device, repeat visits to the clinic, and punctures to inflate the expander. To overcome the last disadvantage, an osmotic expander was developed in Germany in 1999 by OSMED GmbH (Ilmenau). PMID:18755643

  19. Clinical experience with the percutaneously inserted Amplatz vena caval filter

    International Nuclear Information System (INIS)

    The Amplatz filter is a 14-F vena caval filter designed for percutaneous insertion and retrieval. Thirty filters were inserted. The indications for placement were anticoagulant failure (four cases) and contraindication to anticoagulation (26 cases). Radiologic, pathologic, or clinical follow-up (average, 10 months) was available in 27 patients. Results include one case of recurrent pulmonary embolism (4%), nine cases of caval thrombosis (33%), and two cases of deep venous thrombosis in the insertion leg (7%). Filter migration did not occur in any case. The Amplatz filter is easily inserted and well tolerated by the patient. Although effective in preventing recurrent pulmonary embolism, it has a relatively high incidence of caval thrombosis

  20. Nursing experience in clinical endovascular treatment for renal artery aneurysms

    International Nuclear Information System (INIS)

    Objective: To discuss the standardized clinical nursing measures for patients receiving endovascular treatment of renal artery aneurysms. Methods: The clinical data of 9 patients with renal artery aneurysm, who were admitted to authors' hospital during the period from Jan. 2010 to Aug. 2011 and received endovascular treatment, were retrospectively analyzed. The related nursing points as well as the received endovascular. Results: A total of 9 cases with renal artery aneurysm were treated nursing measures were summarized. Results: A total of 9 cases with renal artery aneurysm were with interventional management, including embolization (n = 6), stent implantation (n = 2) and stent implantation together with coil embolization (n = 1). The mean hospitalization time was (10±2) days. Postoperative retention of urine was observed in one patient and postoperative retroperitoneal hemorrhage occurred in another patient. Neither nursing-related nor operation-related complications occurred. Conclusion: Standardized perioperative nursing care for patients with renal artery aneurysm can surely help enhance the patient's tolerance to the surgery, and effectively prevent the complications. (authors)

  1. [First clinical experiences with ceramic ball attachments for overdentures].

    Science.gov (United States)

    Büttel, Adrian E; Schmidli, Fredy; Marinello, Carlo P; Lüthy, Heinz

    2008-01-01

    In this prospective clinical study on 40 patients with similar clinical conditions (edentulous jaw with 2 interforaminal implants) commercially available ceramic ball attachments (ruby) were compared to commercial titanium ball attachments. The primary aim of the study was to measure the wear of the ball attachments after being 1 year in function. However, in the course of the study already after 7 to 12 months multiple failures with ceramic ball attachments occurred. Twelve (28%) of 43 ceramic ball attachments had to be replaced, mostly because of fractures (8) of the ceramic ball. It seems that ceramic ball attachments of the investigated design are not able to withstand normal intraoral stresses. The short-term susceptibility to fractures didn't allow to examine the ceramic-inherent features such as compressive strength and wear resistance. Furthermore, a secure connection between a titan base and a ceramic ball seems to be challenging. Based on these results, in implant-retained removable prosthesis the use of metal-based retainers is still recommended, although during maintenance a higher wear has to be expected. This wear can be compensated by either activating or changing the matrix or the patrix. PMID:18293602

  2. Respiratory infections: clinical experiences with the new quinolones.

    Science.gov (United States)

    Davies, B I; Maesen, F P

    1987-12-11

    Nearly 300 patients, admitted to hospital with acute purulent exacerbations of chronic respiratory disease, have been treated with various newer quinolones: 26 patients received enoxacin, 50 pefloxacin, 80 ciprofloxacin and 143 ofloxacin. Dosages varied from 400 mg once daily to 1000 mg twice daily. orally for five to 10 days. Patients were evaluated bacteriologically and clinically before, during and after treatment. Nearly all infections associated with Haemophilus influenzae and/or Branhamella catarrhalis were successfully eradicated. Some Streptococcus pneumoniae infections relapsed, some could not be eradicated, and a number of patients developed new infections with these organisms. Approximately half of the Pseudomonas aeruginosa infections were eradicated. Nearly all patients received concomitant theophylline but this only caused serious problems in those given 600 mg doses of enoxacin twice daily. Five patients given ciprofloxacin had to discontinue because of unwanted effects (mostly hallucinations), one patient given pefloxacin had gastric pain and two patients given ofloxacin developed a skin rash. Apart from the theophylline interaction, the unwanted effects did not appear to be dose-related. The best overall clinical results were noted after 800 mg doses of ofloxacin once daily for seven days. PMID:3438151

  3. Translating comparative effectiveness research into clinical practice: the UK experience.

    Science.gov (United States)

    Walley, Tom

    2012-01-22

    Comparative effectiveness research (CER) is not new but its potential to improve the effectiveness of healthcare has not yet been exploited in the US. Other countries such as the UK have more experience of this. Key points of the UK experience are summarized here and some possible pointers for the US are drawn. These include the following: how to go beyond the evidence and apply judgements to make recommendations with authority and in a timely manner; how to implement these recommendations; how to identify suitable topics; and how to be open and transparently fair to all stakeholders. The quality of the science of CER is key but this needs developing, and not just in biomedical or statistical terms but also in how to understand public expectations, and how to implement its recommendations. A key issue is the role of health economics, which seems to have been marginalized by the CER legislation, but perhaps this is more apparent than real. Clearly this is a matter for much further debate. It is hard to see how CER can deliver its potential without active consideration of both benefits and costs. Although other countries have more experience of this than does the US, the context for such work is always very specific and the US will have to find its own way, while trying to avoid some of the errors made elsewhere. PMID:22268389

  4. CLINICAL AND MICROBIOLOGICAL STUDY OF OTOMYCOSIS : OUR EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Venugopal

    2015-06-01

    Full Text Available Otomycosis is fungal infection of external auditory canal, which is common throughout the world. Otomycosis may be refractory to treatment prescribed and hence challenges the clinician. AIM: To identify the organism causing otomycosis and to explore speci fic predisposing factors and treatment. MATERIALS AND METHODS: This is a descriptive study of cases of otomycosis attending ENT outpatient department of Govt. Medical College, Thiruvananthapuram which were evaluated clinically and microbiologically for one year. RESULT AND CONCLUSION: The commonest predisposing factor for otomycosis is trauma due to self - cleaning and water entering the ear. Common in females. Common presentation is itching of ear and ear ache. Commonest organism isolated is Aspergillus Nige r. Usually respond to treatment with topical antifungal agent especially clotrimazole. Most of the cases responded satisfactorily with topical clotrimazole.

  5. Clinical Experience in Application of the Point Wangu

    Institute of Scientific and Technical Information of China (English)

    杨西永

    2002-01-01

    Wangu (GB 12) is a point of the Gallbladder Channel of Foot Shaoyang, located in the depression posteroinferior to the temporal process. And it is a hui point of Foot Taiyang and Shaoyang Channels, with the effects of eliminating pathogenic wind and heat, and tranquilizing the mind. This point is located superior to the attachment point of the sternocleidomastoid muscle, in which there distribute the stem of the lesser occipital nerve, and branches of the posterior auricular artery and vein. It can be needled perpendicularly 0.5-1 cun deep. In clinical practice, the author has applied the point for treatment of various diseases, and obtained quite satisfactory therapeutic results. The following is a report of some illustrative cases.

  6. 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.

  7. 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.

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

    DEFF Research Database (Denmark)

    Voltelen, Barbara; Konradsen, Hanne; Østergaard, Birte

    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...... from 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...

  9. 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.

  10. Experience with the Implementation of Clinical Pharmacy Services and Processes in a University Hospital in Belgium.

    Science.gov (United States)

    Somers, Annemie; Claus, Barbara; Vandewoude, Koen; Petrovic, Mirko

    2016-03-01

    This article summarizes the experience with the development of clinical pharmacy services in the Ghent University Hospital in Belgium. Implementation of clinical pharmacy services in Belgian hospitals has not been evident because these activities were initially not structurally financed. The aim is to describe the strengths and weaknesses of the clinical pharmacy development process, and the milestones that enhanced the progress. Furthermore, the organisation of clinical pharmacy in the Ghent University Hospital is explained, including back- and front-office activities, seamless pharmaceutical care and medication safety improvement. Some working methods, procedures and tools are explained for different clinical pharmacy services. In particular, the clinical pharmacy projects for geriatric patients as well as the preparation of clinical pharmacy services for the accreditation process are explained. We also reflect on the organisation model and the future development of clinical pharmacy, taking into consideration facilitators and potential barriers. PMID:26922733

  11. Clinical spectrum and outcome of pulmonary nocardiosis: 5-year experience

    Science.gov (United States)

    Singh, Akashdeep; Chhina, Deepinder; Soni, RK; Kakkar, Chandan; Sidhu, US

    2016-01-01

    Background: Pulmonary nocardiosis is a rare but a life-threatening infection caused by Nocardia spp. The diagnosis is often missed and delayed resulting in delay in appropriate treatment and thus higher mortality. Aim: In this study, we aim to evaluate the clinical spectrum and outcome of patients with pulmonary nocardiosis. Methods: A retrospective, 5-year (2009–2014) review of demographic profile, risk factors, clinical manifestations, imaging findings, treatment, and outcome of patients with pulmonary nocardiosis admitted to a tertiary care hospital. Results: The median age of the study subjects was 54 years (range, 16–76) and majority of them (75%) were males. The risk factors for pulmonary nocardiosis identified in our study were long-term steroid use (55.6%), chronic lung disease (52.8%), diabetes (27.8%), and solid-organ transplantation (22.2%). All the patients were symptomatic, and the most common symptoms were cough (91.7%), fever (78%), and expectoration (72%). Almost two-third of the patients were initially misdiagnosed and the alternative diagnosis included pulmonary tuberculosis (n = 7), community-acquired pneumonia (n = 5), lung abscess (n = 4), invasive fungal infection (n = 3), lung cancer (n = 2), and Wegener's granulomatosis (n = 2). The most common radiographic features were consolidation (77.8%) and nodules (56%). The mortality rate for indoor patients was 33% despite treatment. Higher mortality rate was observed among those who had brain abscess (100.0%), HIV positivity (100%), need for mechanical ventilation (87.5%), solid-organ transplantation (50%), and elderly (age > 60 years) patients (43%). Conclusion: The diagnosis of pulmonary nocardiosis is often missed and delayed resulting in delay in appropriate treatment and thus high mortality. A lower threshold for diagnosing pulmonary nocardiosis needs to be exercised, in chest symptomatic patients with underlying chronic lung diseases or systemic immunosuppression, for the early diagnosis

  12. EPID based in vivo dosimetry system: clinical experience and results.

    Science.gov (United States)

    Celi, Sofia; Costa, Emilie; Wessels, Claas; Mazal, Alejandro; Fourquet, Alain; Francois, Pascal

    2016-01-01

    Mandatory in several countries, in vivo dosimetry has been recognized as one of the next milestones in radiation oncology. Our department has implemented clinically an EPID based in vivo dosimetry system, EPIgray, by DOSISOFT S.A., since 2006. An analysis of the measurements per linac and energy over a two-year period was performed, which included a more detailed examination per technique and treat-ment site over a six-month period. A comparison of the treatment planning system doses and the doses estimated by EPIgray shows a mean of the differences of 1.9% (± 5.2%) for the two-year period. The 3D conformal treatment plans had a mean dose difference of 2.0% (± 4.9%), while for intensity-modulated radiotherapy and volumetric-modulated arc therapy treatments the mean dose difference was -3.0 (± 5.3%) and -2.5 (± 5.2%), respectively. In addition, root cause analyses were conducted on the in vivo dosimetry measurements of two breast cancer treatment techniques, as well as prostate treatments with intensity-modulated radiotherapy and volumetric-modulated arc therapy. During the breast study, the dose differences of breast treatments in supine position were correlated to patient setup and EPID positioning errors. Based on these observations, an automatic image shift correc-tion algorithm is developed by DOSIsoft S.A. The prostate study revealed that beams and arcs with out-of-tolerance in vivo dosimetry results tend to have more complex modulation and a lower exposure of the points of interest. The statistical studies indicate that in vivo dosimetry with EPIgray has been successfully imple-mented for classical and complex techniques in clinical routine at our institution. The additional breast and prostate studies exhibit the prospects of EPIgray as an easy supplementary quality assurance tool. The validation, the automatization, and the reduction of false-positive results represent an important step toward adaptive radiotherapy with EPIgray. PMID:27167283

  13. 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.

  14. Congenital midline nasofrontal masses.

    Science.gov (United States)

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  15. 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.

  16. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  17. Congenital pancreatic cysts

    Directory of Open Access Journals (Sweden)

    Seddighy A

    1998-07-01

    Full Text Available Congenital cyst of the pancreas is an uncommon problem in the pediatric patient. The common symptoms at the time of diagnosis have been abdominal mass and pain or fullness, nausea and vomiting. Despite of various paraclinic methods for diagnosis, ultrasound is now recognized as the most effective and best noninvasive method for diagnosis of pancreatic cyts. Surgical intervention is the best mode of therapy. Upper abdominal cystic mass are seen in the fetus and newborn infants. In Amirkabir Hospital, during 12 years from 1981 to 1993, 8 pancreatic cysts have been operated on and only in this case it was congenital.

  18. CONGENITAL HYPERINSULINISM (HYPERAMMONEMIA HYPERINSULINISM

    Directory of Open Access Journals (Sweden)

    Garuda Rama

    2015-02-01

    Full Text Available BACKGROUND: Congenital hyperinsulinism causing hypoglycemia. CASE CHARACTERISTICS : 1yr child with hypoglycemic convulsion. OBSERVATION: High insulin levels on fasting, hyperammonemia, diffuse hyperplasia of pancreas on PET dopa scan. OUTCOME: Good response to frequent glucose feeds and diazoxide. MESSAGE: Any child presenting with convulsion needs blood sugar estimation and hypoglycemia if any, should be thoroughly investigated. Congenital hyperinsulinism comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia due to inappropria te secretion of insulin by pancreatic β - islet cells. Hyperammonemia hyperinsulinism is due to type - 3 diffuse hyperinsulinism transmitted as autosomal dominant due to mutation in glutamate dehydrogenase gain of function mutation

  19. Minimally invasive transforaminal lumbar interbody fusion—indications and clinical experience

    Directory of Open Access Journals (Sweden)

    Akshay Hari

    2016-01-01

    Conclusions: Our clinical experience along with a review of the medical literature indicates that TLIF can be effectively and safely performed in a minimally invasive fashion for a wide variety of indications.

  20. 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.

  1. [Cystinic nephrolythiasis: clinical experience and new diagnostic and therapeutic perspectives].

    Science.gov (United States)

    Gentili, Anna; Ria, Paolo; Lupo, Antonio; Fabris, Antonia

    2016-01-01

    Cystinuria is an inherited autosomal recessive disease with a prevalence 1:7000 and typical age of onset in the second decade of life. This nephrolithiasis is not always well known and well studied and for this reason it is often underdiagnosed. Cystinuria is characterized by increased urinary excretion of cystine and dibasic amino acids (lysine, ornithine, arginine) caused by defective transport of these amino acids across the luminal membrane of proximal tubule and small intestine cells. Two mutated genes responsible of this tubular defect are SLC3A1 on chromosome 2 and SLC7A9 on chromosome 19. Clinical manifestations of cystinuria are essentially those related to stones formation and their movement across the urinary tract, like flank pain/abdomen pain and hematuria, as occurred in other nephrolithiasis types. Diagnosis is based on biochemical urine analysis, stone analysis and imaging. Genetic study of this disease may be a new and stimulating approach to better understand the defects and identify new therapeutic targets. A wider knowledge and a more detailed approach to cystinuria may help to ameliorate patients quality of life, to prevent recurrences and complications and to develop more specific and adequate treatments. PMID:27374390

  2. The universal serial bus endoscope: design and initial clinical experience.

    Science.gov (United States)

    Hernandez-Zendejas, Gregorio; Dobke, Marek K; Guerrerosantos, Jose

    2004-01-01

    Endoscopic forehead lift is a well-established procedure in aesthetic plastic surgery. Many agree that currently available video-endoscopic equipment is bulky, multipieced and sometimes cumbersome in the operating theater. A novel system, the Universal Serial Bus Endoscope (USBE) was designed to simplify and reduce the number of necessary equipment pieces in the endoscopic setup. The USBE is attached by a single cable to a Universal Serial Bus (USB) port of a laptop computer. A built-in miniaturized cold light source provides illumination. A built-in digital camera chip enables procedure recording. The real-time images and movies obtained with USBE are displayed on the computer's screen and recorded on the laptop's hard disk drive. In this study, 25 patients underwent endoscopic browlift using the USBE system to test its clinical usefulness, all with good results and without complications or need for revision. The USBE was found to be reliable and easier to use than current video-endoscope equipment. The operative time needed to complete the procedure by the authors was reduced approximately 50%. The design and main technical characteristics of the USBE are presented. PMID:15383889

  3. 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.

  4. [Brain-Computer Interface: the First Clinical Experience in Russia].

    Science.gov (United States)

    Mokienko, O A; Lyukmanov, R Kh; Chernikova, L A; Suponeva, N A; Piradov, M A; Frolov, A A

    2016-01-01

    Motor imagery is suggested to stimulate the same plastic mechanisms in the brain as a real movement. The brain-computer interface (BCI) controls motor imagery by converting EEG during this process into the commands for an external device. This article presents the results of two-stage study of the clinical use of non-invasive BCI in the rehabilitation of patients with severe hemiparesis caused by focal brain damage. It was found that the ability to control BCI did not depend on the duration of a disease, brain lesion localization and the degree of neurological deficit. The first step of the study involved 36 patients; it showed that the efficacy of rehabilitation was higher in the group with the use of BCI (the score on the Action Research Arm Test (ARAT) improved from 1 [0; 2] to 5 [0; 16] points, p = 0.012; no significant improvement was observed in control group). The second step of the study involved 19 patients; the complex BCI-exoskeleton (i.e. with the kinesthetic feedback) was used for motor imagery trainings. The improvement of the motor function of hands was proved by ARAT (the score improved from 2 [0; 37] to 4 [1; 45:5] points, p = 0.005) and Fugl-Meyer scale (from 72 [63; 110 ] to 79 [68; 115] points, p = 0.005). PMID:27188145

  5. 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 

  6. A Congenital Glaucoma Case with Rubinstein-Taybi Syndrome

    Directory of Open Access Journals (Sweden)

    Mümin Hakan Eren

    2011-08-01

    Full Text Available To evaluate systemic/eye manifestations and treatment modalities in a case of Rubinstein-Taybi Syndrome (RTS with bilateral congenital glaucoma and structural eye anomalies. Eight-month-old infant with RTS presented to our clinic with bilateral epiphora and corneal haze in one eye. In ophthalmologic examination, bilateral congenital glaucoma and epiblepharon were found. Medical and surgical treatments of congenital glaucoma were performed. Abnormal eye findings are commonly seen in RTS cases, therefore, ophthalmologic examinations and treatment modalities should be done with caution. (Turk J Ophthalmol 2011; 41: 260-3

  7. Congenital anomalies of the coronary sinus: A pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jung Eun; Kwon, Se Hwan; Oh, Joo Hyeong [Dept. of Radiology, College of Medicine, Kyung Hee University, Seoul (Korea, Republic of)

    2013-07-15

    Congenital anomalies involving the coronary sinus (CS) tend to receive relatively little attention because they rarely cause clinical symptoms or disturbances of cardiac function. However, as imaging modalities have been developed over time, the detailed anatomy of the heart, including CS anomalies, can now be evaluated more precisely. The purpose of this pictorial review is to illustrate multi-detector computed tomography findings of various congenital anomalies of the CS. The cardiac venous system and its embryologic development are also described in detail to familiarize radiologists with various congenital anomalies of the CS.

  8. Congenital anomalies of the coronary sinus: A pictorial essay

    International Nuclear Information System (INIS)

    Congenital anomalies involving the coronary sinus (CS) tend to receive relatively little attention because they rarely cause clinical symptoms or disturbances of cardiac function. However, as imaging modalities have been developed over time, the detailed anatomy of the heart, including CS anomalies, can now be evaluated more precisely. The purpose of this pictorial review is to illustrate multi-detector computed tomography findings of various congenital anomalies of the CS. The cardiac venous system and its embryologic development are also described in detail to familiarize radiologists with various congenital anomalies of the CS.

  9. 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

  10. Experiences and barriers to implementation of clinical practice guideline for depression in Korea

    OpenAIRE

    Yang, Jaewon; Han, Changsu; Yoon, Ho-Kyoung; Pae, Chi-Un; Kim, Min-Jeong; Park, Sun-Young; Ahn, Jeonghoon

    2013-01-01

    Background Clinical guidelines can improve health-care delivery, but there are a number of challenges in adopting and implementing the current practice guidelines for depression. The aim of this study was to determine clinical experiences and perceived barriers to the implementation of these guidelines in psychiatric care. Methods A web-based survey was conducted with 386 psychiatric specialists to inquire about experiences and attitudes related to the depression guidelines and barriers influ...

  11. Eating disorders - knowledge, attitudes, management and clinical experience of Norwegian dentists

    OpenAIRE

    Johansson, Ann-Katrin; Johansson, Anders; Nohlert, Eva; Norring, Claes; Åstrøm, Anne N; Tegelberg, Åke

    2015-01-01

    Background: The purpose of this study was to investigate knowledge, attitudes and clinical experience with regard to patients with eating disorders (ED) among Norwegian dentists. Methods: In 2010, a questionnaire was sent to all dentists in Norway (N = 4282) comprising 33 questions related to demographics of the participating dentists, their knowledge of ED (general and oral health aspects), clinical experience, attitudes and perceived management preferences. Results: The participation rate w...

  12. Psychotic experiences in a mental health clinic sample: implications for suicidality, multimorbidity and functioning.

    OpenAIRE

    Kelleher, Ian; Devlin, Nina; Wigman, Johanna Tw; Kehoe, Anne; Murtagh, Aileen; Fitzpatrick, Carol; Cannon, Mary

    2014-01-01

    BACKGROUND: Recent community-based research has suggested that psychotic experiences act as markers of severity of psychopathology. There has, however, been a lack of clinic-based research. We wished to investigate, in a clinical sample of adolescents referred to a state-funded mental health service, the prevalence of (attenuated or frank) psychotic experiences and the relationship with (i) affective, anxiety and behavioural disorders, (ii) multimorbid psychopathology, (iii) global functionin...

  13. The South African Military Nursing College Pupil Enrolled Nurses’ experiences of the clinical learning environment

    OpenAIRE

    Ernestina M. Caka; Sebi Lekalakala-Mokgele

    2013-01-01

    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...

  14. Eating disorders - knowledge, attitudes, management and clinical experience of Norwegian dentists

    OpenAIRE

    Johansson, Ann-Katrin; Johansson, Anders; Nohlert, Eva; Norring, Claes; Åstrøm, Anne N; Tegelberg, Åke

    2015-01-01

    Background The purpose of this study was to investigate knowledge, attitudes and clinical experience with regard to patients with eating disorders (ED) among Norwegian dentists. Methods In 2010, a questionnaire was sent to all dentists in Norway (N = 4282) comprising 33 questions related to demographics of the participating dentists, their knowledge of ED (general and oral health aspects), clinical experience, attitudes and perceived management preferences. Results The participation rate was ...

  15. 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.

  16. The Impact of Clinical Experiences from Athletic Training Student and Preceptor Perspectives

    Science.gov (United States)

    Benes, Sarah S.; Mazerolle, Stephanie M.; Bowman, Thomas G.

    2014-01-01

    Context: Clinical education is an integral part of athletic training programs. This is where students should develop their professional identities and become socialized into the profession. Understanding the student and preceptor perspectives of the impact that clinical experiences have on students can provide valuable insight into this aspect of…

  17. Psychotic experiences in a mental health clinic sample : implications for suicidality, multimorbidity and functioning

    NARCIS (Netherlands)

    Kelleher, I.; Devlin, N.; Wigman, J. T. W.; Kehoe, A.; Murtagh, A.; Fitzpatrick, C.; Cannon, M.

    2014-01-01

    Background Recent community-based research has suggested that psychotic experiences act as markers of severity of psychopathology. There has, however, been a lack of clinic-based research. We wished to investigate, in a clinical sample of adolescents referred to a state-funded mental health service,

  18. 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…

  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. Role of Clinical Education Experiences on Athletic Training Students' Development of Professional Commitment

    Science.gov (United States)

    Mazerolle, Stephanie M.; Dodge, Thomas

    2015-01-01

    Context: Limited evidence exists on the role clinical education can play in the development of athletic training student commitment for the profession. Objective: Investigating the role clinical education experiences play on the development of passion for athletic training. Design: Exploratory qualitative study. Setting: Athletic training…

  1. 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. PMID:26925716

  2. Clinical trial experience using erythropoietin during radiation therapy

    International Nuclear Information System (INIS)

    Oncologists have several reasons for trying to maintain or increase hemoglobin levels in their patients during therapy. Relief of the symptoms of anemia, including fatigue and dyspnea, are traditional, well-accepted indications. A newer rationale is to enhance the efficacy of radiation therapy and/or chemotherapy in controlling tumors. A laboratory animal study found that administration of recombinant human erythropoietin (rHuEPO) increased intratumoral median oxygen levels and diminished the proportion of measurements in the very low (<3 mm Hg) range. Hemoglobin level is a strong independent prognostic factor for tumor control by radiation therapy. The hemoglobin level at the end of radiation therapy is a stronger prognostic factor than is the hemoglobin level at the start of therapy. Numerous clinical trials have utilized rHuEPO during radiation with or without concurrent chemotherapy. All 4 trials which enrolled patients with low hemoglobin levels (<12 to 13.5 g/dl) found that rHuEPO significantly increased hemoglobin within 2 weeks and that hemoglobin levels continued to rise until the end of rHuEPO treatment. rHuEPO was efficacious in limiting the decrease in hemoglobin and use of packed red blood cell transfusion in the one reported trial in which it was used in patients with initially normal hemoglobin levels during intensive concurrent radiation and chemotherapy. One trial found a statistically significant improvement in complete pathologic response rate after neoadjuvant chemoradiotherapy with the use of rHuEPO. rHuEPO has a potentially large role to play in the care of the cancer patient. (orig.)

  3. Clinical Experience with Chitosan Matrix and Cultured Fibroblasts for Burns

    Directory of Open Access Journals (Sweden)

    Gaziza Danlybayeva

    2014-12-01

    Full Text Available Introduction. Burns are an important public health challenge due to the frequency of getting burns in day-to-day life, occupational hazards, and catastrophes. Treatment of burns is complex and is associated with high morbidity and mortality. Duration and complexity of burn treatment require finding new ways of curing and rehabilitating burns. The result of burn treatment plays a significant role in post-traumatic status of a patient and his or her consequent adaptation in society. Chitosan is a natural safe non-toxic product compatible with human tissues, characterized by hydrosorbid, anticoagulant, antibacterial, and wound healing features. The study aims to  show a clinical application of chitosan-pectin scaffold with cultured human skin fibroblasts in the treatment of deep burns.Methods. The substrate was prepared by dissolving 3% chitosan in 0.5N acetic acid, which was then mixed with 3% solution of pectin dissolved in distillated water. Chitosan film was formed in a Petri dish for 20-24 hours at 20-25 °C. After drying the film, cultured allogeneic fibroblasts (patent number RK-25091 were seeded on its surface.Results. The results from an in vitro culture study showed that human allogeneic fibroblasts could adhere well and grow on the selected scaffold with a typical morphology. During autodermoplasty surgery, cultured allogeneic fibroblasts were applied on granulating wounds of 9 patients with IIIA to IVB degree burns and limited donor resources. Wounds treated with the fibroblast-seeded scaffold among all patients provided the highest level of re-epithelialization (day 5, in comparison to cell-free scaffold (day 7 and untreated surface of wounds (day 10.Conclusion. Our results indicate the potential use of chitosan for wound healing due to its allogenic fibroblast adherence to scaffolding as well as high epithelization. This warrants further studies on chitosan for use in wounds resulting from third and fourth degree burns.

  4. Clinical experience of surgical intervention for severe acute pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Xu Yuan; Shao Qinshu; Yang Jin; Yu Xiaojun; Xu Ji

    2014-01-01

    Background The controversy on the treatment strategy for severe acute pancreatitis (SAP) has never stopped for the past century.Even now surgical procedures play a decisive role in the treatment of SAP,especially in managing the related complications,but the rational indications,timing,and approaches of surgical intervention for SAP are still inconclusive.Methods Clinical data of 308 SAP patients recruited during January 2000-January 2013,including 96 conservatively treated cases plus 212 surgically intervened cases,were comparatively analyzed.Based on the initial surgical intervention time,the surgical intervention group was split into two:early intervention group (within 2 weeks) 103 cases,and late intervention group (after 2 weeks) 109 cases.Results In the conservative treatment group,the cure rate was 82.29% (79/96),the death rate was 13.54% (13/96),and 4 cases self-discharged,while in the surgical intervention group,the cure rate was 84.43% (179/212) and the death rate was 10.85% (23/212) with 10 cases self-discharged.The difference was of no statistical significance between these two groups (P >0.05).In surgical intervention group,the death rate 15.53% (16/103) in the early surgical intervention group was higher than that of late surgical intervention group 6.42% (7/109),and the difference was statistically significant (P <0.05).Conclusions Both conservative treatment and surgical intervention play important roles in the treatment of SAP,and the indication,timing,and procedure should be strictly followed.Surgery earlier than 2 weeks after onset of the disease is not recommended in patients with necrotizing pancreatitis only when there are specific indications,such as multiple organ failure,which does not improve despite active treatment,and in those who develop abdominal compartment syndrome.

  5. 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.

  6. 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.

  7. Respiratory dynamic CT of the lung: initial clinical experience

    International Nuclear Information System (INIS)

    We applied spiral CT to evaluate the dynamic changes of regional ventilation of the lung in normal subjects and abnormal patients. This study includes normal subjects (n = 5) and patients with chronic obstructive pulmonary disease (n = 4), small air-way disease (n = 3), diffuse panbronchiolitis (n = 4), and tracheobronchial tuberculosis (n = 2). Time-continuous scan data at a fixed level during forced vital capacity maneuver (10-12 seconds) were obtained and images were reconstructed retrospectively by using 0.67 second scan data per image. The reconstructed images were displayed in a cine mode. Time-density curves were plotted and were correlated with clinical diagnosis. In normal subjects, mean attenuation difference between full inspiration and full expiration was 145.8 HU and mean time interval between 20% expiration and 80% expiration was 2.04 seconds. In chronic obstructive lung disease, mean attenuation difference between full inspiration and full expiration was 21.2 HU and mean time interval between 20% expiration and 80% expiration was 3.63 seconds. In small air-way disease, mosaic-pattern hyperlucency and normal portion of lung showed mean attenuation differences between 20% expiration and 80% expiration to be 49.8 HU and 167.0 HU, respectively. In diffuse panbronchiolitis, centrilobular region and normal portion of lung showed mean attenuation differences between 20% expiration and 80% expiration to be 35.4 HU and 79.3 HU, respectively. Respiratory dynamic CT is an updated technique which enable imaging of the functional status of the lung parenchyma. It may be useful in differentiation and quantitation of variable obstructive lung diseases

  8. Clinical experiences with three different designs of ankle prostheses.

    Science.gov (United States)

    Rippstein, Pascal F

    2002-12-01

    Until 1995, fusion was in our institution the only rational surgical option for a severe ankle arthrosis. Consistent reports about good mid- and long-term results with ankle replacement allowed us to change our minds. Ankle replacement became the gold standard and fusion was then almost totally banished. Because ankle arthrosis can be morphologically different from one patient to another, we soon believed that one single type of ankle prosthesis would not be the universal optimal solution for all patients. We therefore divided the ankle arthrosis into three groups. Each group shows the best solution from each of the ankle prostheses with which we had gained experience (Agility, STAR, and BP). The Agility prosthesis, which was indicated for ankles with extremely damaged geometry, did not restore sufficiently the ankle motion. Preoperatively stiff ankles remained stiff postoperatively. Additionally, significant residual pain was more likely to occur in those patients. These cases did not show significant advantages compared with ankle fusion, especially from a functional point of view. Fusion for these stiff ankles is therefore today our first treatment of choice. In our experience, the malleolar joints do not have to be replaced. Even a severe arthrosis at this level does not produce significant pain, provided that osteophytes have been removed and joint height has been restored by the implanted prosthesis. It is our strong belief that these malleolar joints are also less sensitive to pain, similar to the femoropatellar joint. For these reasons, a replacement of the malleolar joints and the resurfacing of the talar sides is not necessary. Leaving the talar sides untouched requires less bone resection and makes the implantation of the talar component easier. Although we obtained good results with the STAR prosthesis, we progressively abandoned it because of these reasons, and we preferred the BP prosthesis. The BP prosthesis works on the same biomechanic principle as

  9. Congenital angular deformities of the leg : congenital pseudoarthrosis and congenital posteromedial angulation of the tibia

    OpenAIRE

    Güner, Dr. Güntekin; Elmalı, Dr. Nurzat; Ayan, Dr. İrfan; Ataşlı, Dr. Nusret

    1996-01-01

    Congenital angular deformities of the leg are rare. Congenital anterolateral angulation of the tibia is a complex deformity which needs close observation because, fracture and pseudoarthrosis are always potential risk. Here we report 4 cases in which two had congenital pseudoarthrosis of the tibia and the other two had congenital posteromedial angulation of the tibia which were managed between 1994-1996 and the related literature were reviewed. [Journal of Turgut Ozal Medical Center 1996;3(4)...

  10. 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.

  11. Stem Cell Therapy for Cardiovascular Disorders - Our Clinical Experience

    Directory of Open Access Journals (Sweden)

    Jayakrishnan AG

    2011-01-01

    Full Text Available Background: Autologous Bone Marrow stem Cell transplantation is a viable therapeutic option for patients with end stage heart failure due to cardiomyopathy of varied etiology as there are only limited treatment options other than cardiac transplantation. The rationale behind the application of stem cells in these patients include • Stem cells directly replace the affected cells by differentiation into the damaged cell type • Stem cells also exert Paracrine effects by secre tion of growth factors (VGEF,FGF-1to stimu late local cell growth•In addition to the above, stem cells release signaling factors which recruit stem cells from elsewhere by modulating the immune system.Materials and Methods: In this presentation we describe our study on a series of 13 patients who received isolated and expanded CD 34 cells from the bone marrow. Seven had ischemic dysfunction, three had dilated cardiomyopathy and three had primary pulmonary hypertension. Five patients received the stem cells via intracoronary injection, three directly into the myocardium and three intrapulmonary. Results: All patients showed functional improvement of the myocardium recorded by non-invasive investigations and improvement in the quality of life. Follow up period ranged from 6 months to 2 years. Conclusion: Our experience with bone marrow derived stem cells in patients with cardiomyopathy has been encouraging. More studies are planned in the future.

  12. Initial experience of the medical clinic of the education Casmu

    International Nuclear Information System (INIS)

    Full text: What happens when a patient (p te) is faced once treatment Q T? We know that for p te involves both how their family; face a charge of myths and half-truths; causing the treatment is so vivid apprehension as the disease itself. In this context the concern of the Department of Oncology Casmu arises; of give patients an area where the p te to receive information contribute to reaching the treatment of Q T in better condition. All patients will start treatment Q T for the first time; are cited for an interview at the Polyclinic of Education. It is coordinated delayed with respect to the talks with the Treating oncologist, in order to allow the patient to develop their doubts and to raise them. In the interview also involved the p te and his family, Oncology Residents Department, and a member of Campus Nursing thereof. the interview is divided into five modules: 1) Administrative Aspects 2) Nursing Care 3) Potential side effects. 4) Social Benefits 5) Resources Information. Between January 2003 and August 2004, 70 interviews were conducted education. the average length thereof was 30 minutes. Is in progress writing a brochure based on the questions most frequently asked by patients and their families; well as an evaluation of the experience

  13. Transitions from Clinical Experiences to Clinical Questions and then Research: Songwriting with Bereaved Pre-adolescent Children

    Directory of Open Access Journals (Sweden)

    Melina Roberts

    2006-11-01

    Full Text Available The purpose of this article is to describe the author’s personal transition from her clinical experiences working with bereaved children and adolescents, to clinical questions that arose during this time, and then to her current phase whereby she has commenced research to examine songwriting with bereaved children. This article includes relevant literature that discusses bereavement in childhood, songwriting in music therapy, and music therapy support for bereaved children and adolescents. A description about the author’s current research, that integrates the three areas highlighted in the literature, is also discussed.

  14. Ultrasound appearance of congenital renal disease: Pictorial review

    Directory of Open Access Journals (Sweden)

    Narrotam A. Patel

    2014-12-01

    Full Text Available Congenital renal diseases consist of a variety of entities. The age of presentation and clinical examination narrow down the differential diagnosis; however, imaging is essential for accurate diagnosis and pretreatment planning. Ultrasound is often used for initial evaluation. Computed tomography (CT and MRI provide additional information. Ultrasonography continues to occupy a central role in the evaluation and detection of congenital renal diseases due to its advantage of rapid scanning time, lack of radiation exposure, cost effective and easy feasibility.

  15. Congenital pseudarthrosis of the clavicle: a rare and challenging diagnosis.

    Science.gov (United States)

    Sung, Tony H T; Man, Eric M W; Chan, Augustine T S; Lee, W K

    2013-06-01

    Congenital pseudarthrosis of the clavicle is a rare clinical entity, first described in 1910. We report on a newborn baby girl who presented with a painless lump over mid-portion of right clavicle at her routine newborn examination, which was subsequently diagnosed as a congenital pseudarthrosis. Here we explore its pathogenesis, elaborate on its differential diagnoses in paediatric patients, and comment on its distinct radiological features. PMID:23732433

  16. Congenital Blindness and Visual Impairment Cause Infection or Non Infection

    OpenAIRE

    Mirjana A. Janicijevic-Petrovic; Tatjana S. Sarenac-Vulovic; Katarina M. Janicijevic; Dragan I. Vujic; Dejan D. Vulovic

    2013-01-01

    Conflict of interest: none declared. Introduction Authors are from reference documentation to archive at Organization of Federation of blind and visually impaired in central Serbia (Kragujevac), by retrograde analysis, of 2007-2012, comprehend two groups by etiology–clinical characteristics of congenital blindness and visually impaired, caused infection or non infection example. Aim to analyze relationship between infectious and non infectious of congenital blindness and visually impaired in ...

  17. Congenital cardiac defect in a pygmy goat (Capra hircus)

    OpenAIRE

    Laus, Fulvio; COPPONI, Ilenia; Cerquetella, Matteo; FRUGANTI, Alessandro

    2011-01-01

    Congenital cardiac defects are anatomic conditions present at birth. Few references to such conditions in goats are available in the current scientific literature. This report describes, for the first time, a congenital cardiac disease clinically characterized by polypnea from birth and exercise intolerance in a 2-month-old pygmy goat. An atrioventricular dysplasia known as Ebstein's anomaly, an atrial septal defect, and a mild subaortic stenosis were ultrasonographically diagnosed.

  18. 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.

  19. Imaging tissue hypoxia: clinical and pre-clinical experience with 123IAZA

    International Nuclear Information System (INIS)

    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 123IAZA 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 123 I-IAZA in patients with a variety of deep-seated solid tumours will be presented. Correlations of hypoxia-dependent binding with 99mTc-HMPAO perfusion images will be reviewed and early correlations of uptake to treatment response in cancer will be presented. Unusual features of 123I-IAZA biodistribution will also be discussed together with detailed pharmacokinetic and radiation dosimetry data for '2123I- IAZA in normal volunteers

  20. The cardiac troponins: uses in routine clinical practice. Experiences from GUSTO and other clinical trials.

    Science.gov (United States)

    Stubbs, P

    1998-11-01

    Recent advances in pharmacological and mechanical approaches to acute coronary syndromes have led to rapid changes in the management of patients admitted with acute coronary syndromes. These changes have been mirrored by the appearance of newer highly specific biochemical markers of myocardial damage particularly the cardiac troponins. When new biochemical markers become available it is the responsibility of the clinical chemist to evaluate them critically in terms of sensitivity, specificity, efficiency and analyzer precision, in the rigid setting of quality control that laboratories practise, and to compare them with other markers. When the data are shown to Clinical Cardiologists with supporting statements such as 'useful management tool' and 'can be used for early diagnosis of Myocardial Infarction', a different set of questions may need to be answered. The 'So what?' response is most frequent and is the most important hurdle that these newer biochemical markers have to overcome to convince physicians to change their current practice. This presentation will review the results of studies that have examined the potential clinical usefulness of the cardiac troponins with respect to diagnosis and risk stratification of patients admitted with suspected acute coronary syndromes. Any troponin variable that survives the 'so what' question has one further major hurdle to overcome. This is the requirement to inform physicians what different therapeutic strategies they should follow if the variable is present. Available clinical trial evidence about differing management options for patients according to their troponin status will be reviewed and outline management algorithms will be presented. Many questions remain unanswered and these will be included at the time points where they may be relevant. PMID:9857942

  1. 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-

  2. CONGENITAL PATELLA LUXATION

    OpenAIRE

    Cakmak, Mehmet; Taser, Omer; Domanic, Unsal; Temelli, Yener; Karamehmetoglu, Mahmut

    2004-01-01

    Five cases of congenital patella luxation which is rarely seen, have been presented. The diagnosis and treatment problems of this disease have been discussed in our cases with literature on the subject. It was concluded the method of the plastic of Williams-Picat quadriceps performed in the unification with the method of Krogius is the most appropriate form of treatment.

  3. Congenital Lumbar Hernia

    OpenAIRE

    Sanjay Sharma; Gagan Bali; Satish Parihar; Neeraj Koul

    2008-01-01

    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

  4. 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

  5. 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

  6. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  7. Bilateral Congenital Diaphragmatic Hernia

    OpenAIRE

    Dhua, Anjan K; Aggarwal, Satish K; NB Mathur; GR Sethi

    2012-01-01

    Bilateral congenital diaphragmatic hernia (CDH) is a rare birth defect, with a poor prognosis. We describe a case of bilateral CDH discovered while repairing the right sided CDH. Diaphragmatic defect was repaired and a silo was applied on the abdominal wound to avoid abdominal compartment syndrome. The patient however died postoperatively due to severe pulmonary hypertension.

  8. Congenital temporal triangular alopecia.

    OpenAIRE

    Bargman, H

    1984-01-01

    Congenital temporal triangular alopecia is a form of nonscarring alopecia that, as its name suggests, is present at birth. Four cases are reported. One patient underwent hair transplantation, which was successful and might be useful in other patients. Cases occurring in a father and his son suggest for the first time a genetic link.

  9. Clinical trial experience using erythropoietin during radiation therapy

    Energy Technology Data Exchange (ETDEWEB)

    Lavey, R.S. [Radiation Oncology Program, Childrens Hospital Los Angeles, Univ. of Southern California, CA, Los Angeles (United States)

    1998-12-01

    Oncologists have several reasons for trying to maintain or increase hemoglobin levels in their patients during therapy. Relief of the symptoms of anemia, including fatigue and dyspnea, are traditional, well-accepted indications. A newer rationale is to enhance the efficacy of radiation therapy and/or chemotherapy in controlling tumors. A laboratory animal study found that administration of recombinant human erythropoietin (rHuEPO) increased intratumoral median oxygen levels and diminished the proportion of measurements in the very low (<3 mm Hg) range. Hemoglobin level is a strong independent prognostic factor for tumor control by radiation therapy. The hemoglobin level at the end of radiation therapy is a stronger prognostic factor than is the hemoglobin level at the start of therapy. Numerous clinical trials have utilized rHuEPO during radiation with or without concurrent chemotherapy. All 4 trials which enrolled patients with low hemoglobin levels (<12 to 13.5 g/dl) found that rHuEPO significantly increased hemoglobin within 2 weeks and that hemoglobin levels continued to rise until the end of rHuEPO treatment. rHuEPO was efficacious in limiting the decrease in hemoglobin and use of packed red blood cell transfusion in the one reported trial in which it was used in patients with initially normal hemoglobin levels during intensive concurrent radiation and chemotherapy. One trial found a statistically significant improvement in complete pathologic response rate after neoadjuvant chemoradiotherapy with the use of rHuEPO. rHuEPO has a potentially large role to play in the care of the cancer patient. (orig.) [Deutsch] In der Onkologie bestehen zahlreiche Gruende, die Haemoglobinkonzentration der Patienten waehrend der Therapie zu halten oder sogar anzuheben. Als anerkannte Indikation gilt hierbei die Besserung anaemiebedingter Symptome wie Muedigkeit und Dyspnoe, wobei jedoch neuere Ergebnisse darauf hinweisen, dass auch die Effizienz der Strahlen- und

  10. 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. PMID:26211792

  11. The Lived Experience and Training Needs of Librarians Serving at the Clinical Point-of-Care

    Science.gov (United States)

    Kuntz, Gretchen M.; Edwards, Mary E.; Butson, Linda C.; Auten, Beth

    2016-01-01

    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 effective 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. PMID:26211792

  12. Airway tissue engineering for congenital laryngotracheal disease.

    Science.gov (United States)

    Maughan, Elizabeth; Lesage, Flore; Butler, Colin R; Hynds, Robert E; Hewitt, Richard; Janes, Sam M; Deprest, Jan A; Coppi, Paolo De

    2016-06-01

    Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could benefit from cell therapy and tissue engineering applications. While hypoplastic lungs associated with congenital diaphragmatic hernia (CDH) could benefit from cellular based treatments aimed at ameliorating lung function, patients with upper airway obstruction could take advantage from a de novo tissue engineering approach. Moreover, the international acceptance of the EXIT procedure as a means of securing the precarious neonatal airway, together with the advent of fetal surgery as a method of heading off postnatal co-morbidities, offers the revolutionary possibility of extending the clinical indication for tissue-engineered airway transplantation to infants affected by diverse severe congenital laryngotracheal malformations. This article outlines the necessary basic components for regenerative medicine solutions in this potential clinical niche. PMID:27301606

  13. Utility of computed axial tomography angiography in anatomic evaluation of pediatric patients with congenital heart diseases

    International Nuclear Information System (INIS)

    Although echocardiogram and cardiac catheterization are used as first option tools for congenital heart diseases diagnosis, computed tomography angiography is a minimally invasive exam that through two to three dimensional images in real time gives an adequate approach to patients having this type of pathologies that require a rapid and precise evaluation of its extra cardiac anatomy. Objective: describe the institutional experience from August 2005 to August 2006 in the use of angiography by tomography as a complementary diagnostic method in the evaluation of pediatric patients with congenital heart diseases. Method: serial descriptive study. 58 pediatric patients with clinical and echocardiographic diagnosis of congenital heart diseases were evaluated through the General Electric Multislice Light peed/16 scanner. Results: 58 patients with history of congenital heart disease were evaluated through CT angiography. Mean age was 2.4 ± 4.03 years. Twenty (33.8%) had diagnosis of pulmonary atresia, four (6.7%) had tricuspid atresia, eight (13.5%,) had double-outlet right ventricle, seven (11.8%) had tetralogy of Fallot, nine (15.2%) had alterations of the aortic arch, seven (11.8%) had coarctation of the aorta two (3.3%) had interrupted aortic arch, six (10.3%) had persistent ductus arteriosus, four (6.7%) had anomalous venous drainage and three (5.1 %) had transposition of the great arteries. High quality images that allowed assessing the precise vascular anatomy were obtained. Conclusions: computed tomography angiography turned out to be a useful tool in the diagnostic approach of congenital heart diseases, because it allowed a tridimensional anatomic reconstruction. New studies that may permit the assessment of sensitivity, specificity and concordance level of this technique with other invasive diagnostic methods available for the diagnosis of this type of diseases, are required

  14. 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,

  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. Using Case Study Analysis and Case Writing to Structure Clinical Experiences in a Teacher Education Program

    Science.gov (United States)

    Floyd, Deborah M.; Bodur, Yasar

    2005-01-01

    This study reports on the design and results of a two-semester study on the use of case study analysis and case writing in clinical experiences in an undergraduate teacher education program. Findings indicated that structured experiences with case studies and case writing increase preservice teachers' informed decision making on educational…

  17. Radiography students' clinical placement experiences in MRI: A phenomenological study

    International Nuclear Information System (INIS)

    Purpose: The purpose of this study was to gain an insight into radiography students' clinical practice experiences within an MRI unit of a large teaching hospital in Malta. The underlying objectives of the study were to identify and explore the descriptions and meanings of the MRI clinical experiences of students. Methods: Five students, independently undergoing their clinical placements in MRI were asked to write a diary about their daily experiences. Each student then participated in a follow up interview. Data analysis was based on Husserls' phenomenological approach. Results: Eight themes emerged from the data analysed. Students described their experience as one mainly based on observation, where, during their placements, they observed radiographers at work. In this respect, students described their experience as lacking ‘hands on practice’. Students indicated that they felt uncomfortable, unsupervised and unwelcome most of the time. They also expressed the need to feel useful and part of the MRI team during their placement and so they tried to help the team in areas such as patient screening. This helped them build confidence. Learning in MRI was specifically based on the university tasks prescribed and possibly there was no motivation to learn more. The students also described their experience as varied and different when compared to other placements. Conclusion: This study provides a rare insight into radiography students' placement experiences in MRI and should enable the supervising radiographer and educator to obtain a deeper appreciation of the clinical placement experience

  18. 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…

  19. 先天性肝纤维化不同分型的临床特征--75例分析%Congenital hepatic fibrosis:clinical features of different clinical types in 75 patients

    Institute of Scientific and Technical Information of China (English)

    吴欣; 周超; 罗生强

    2014-01-01

    目的:比较病理证实为先天性肝纤维化(CHF)患者4种临床类型的临床、影像表现及病理特点。方法回顾性分析75例 CHF 患者的4种临床类型的临床和病理资料,并进行临床、影像表现与病理特点比较。结果75例患者中男44例,女31例,发病年龄2~55岁,平均年龄(19.88±11.59)岁。门脉高压型38例,其中脾大25例,肝大8例,腹水15例,食管静脉曲张20例,上消化道出血和黑便14例,合并 Caroli’s 病13例,肾脏病变13例;WBC、Hb、PLT 下降,肝功能正常。胆管炎型4例,无脾肿大、腹水、上消化道出血等症状,合并肾脏病变1例;血常规正常,ALT、AST、ALP、GGT 和LAP 明显升高,与隐匿型和门脉高压型相比,差异有统计学意义(P <0.05)。门脉高压和胆炎管混合型30例,其中脾大21例,肝大11例,腹水10例,食管静脉曲张14例,上消化道出血和黑便8例,合并 Caroli’s 病11例,肾脏病变10例,Hb 下降,与隐匿型相比差异有统计学意义(P <0.05),ALT、AST、ALP、GGT 和 LAP 升高,与隐匿型和门脉高压型相比,差异有统计学意义(P <0.05)。门脉高压型和混合型中 Hb 下降与上消化道出血呈负相关性。PAL 在各类型中差异大,差异有统计学意义(P <0.05)。结论在 CHF 中,肝脏合成功能正常。胆管炎型表现为慢性胆汁淤积性肝病特点,以肝功能异常及 ALP、GGT、LAP 等梗阻性酶谱升高为主,症状常不典型;门脉高压型是最常见类型,以门脉高压症及肝功能正常为特点;混合型在 CHF 中并不少见,其兼有胆管炎型和门脉高压1型两者的特点。隐匿型常无特征性表现。PAL 可能是一个有效判断 CHF 预后的指标。%Objective To describe the clinical,biochemical and histological characteristics in 75 patients with pathologically proved congenital hepatic fibrosis (CHF

  20. Erythrodontia in congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Rashmi Bhavasar

    2011-01-01

    Full Text Available Congenital erythropoietic porphyria (CEP is one of the rarest of porphyrias occurring worldwide. CEP is a very rare genetic autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity, hemolytic anemia with splenomegaly and a decreased life expectancy. We report a case of Günther′s disease in view of its rarity along with a description of this interesting condition. An 18-month-old female baby with clinical, hematological and biochemical profile of CEP was reported with marked skin photosensitivity over face and hands. She had erythrodontia with delayed eruption of teeth. When evaluating erythrodontia of uncertain cause, we advocate maintaining a high degree of awareness for porphyria, especially for CEP as it is the rarest among porphyria and is a life-threatening condition.

  1. Nutrition in neonatal congenital heart disease

    OpenAIRE

    Morgan CT; Shine AM; McMahon CJ

    2013-01-01

    Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmonary bypass...

  2. Nutrition in neonatal congenital heart disease

    OpenAIRE

    McMahon, Colin

    2013-01-01

    Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmona...

  3. Ultrasonographi assessment of congenital adrenal masses

    International Nuclear Information System (INIS)

    The demonstrate the utility of ultrasound (US) in the initial assessment and follow-up of newborns with adrenal masses. A series of 21 newborns presenting adrenal mass studied on the basis of US findings, clinical assessment and biochemical data. Seven patients had congenital neuroblastoma, two had a benign tumor and twelve presented adrenal hemorrhage. Postnatal US study of the course of these patients is essential for the differential diagnosis of their lesions when not diagnosed prenatally. (Author) 20 refs

  4. Congenital disorders of glycosylation with neonatal presentation

    OpenAIRE

    Resende, Catarina; Carvalho, Carmen; Alegria, Artur; Oliveira, Dulce; Quelhas, Dulce; Bandeira, Anabela; Proença, Elisa

    2014-01-01

    Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic ...

  5. Aphallia:A Rare Congenital Anomaly

    OpenAIRE

    Alpa Gupta; Alpa Gupta, Harendra Gupta*

    2008-01-01

    Aphallia or absence of penis is a very rare congenital anomaly. Clinical presentation is diagnostic, butimmediate and long term management poses great dilemma. The issue like gender reassignment needsparental counseling. Due to social reasons parents have difficulty in giving consent for the classicalmanagement of gender reassignment. However with better penile reconstruction techniques, now there ishope for such parents who want to bring up their child as a boy.We present such a rare case wi...

  6. Lymphatic Edema in Congenital Disorders of Glycosylation

    OpenAIRE

    Verstegen, Ruud HJ.; Theodore, Miranda; Klerk, Hans; Morava, Eva

    2011-01-01

    Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine abnormalities. To our knowledge, lymphatic edema in CDG has not been reported. We present two cases of lymphatic edema in PMM2-CDG patients. The...

  7. Causes of congenital unilateral pulmonary hypoplasia

    International Nuclear Information System (INIS)

    A review of the roentgenograms and clinical records of 33 children with primary congenital underdevelopment of one lung showed that 9 patients had simple pulmonary hypoplasia, 8 had anomalous venous return to the right atrium or the inferior vena cava (scimitar syndrome), 7 had an absence of ipsilateral pulmonary artery, 7 had an accessory diaphragm, and 2 had a pulmonary sequestration adjacent to a small diaphragmatic hernia. (orig.)

  8. Congenital pseudarthrosis of clavicle, differential diagnosis pathology

    International Nuclear Information System (INIS)

    The congenital pseudarthrosis of clavicle is a rare entity, frequently appearing without association to other pathologies and does not cause important limitations in the children. It can confuse with other traumatic pathologies like clavicle fracture. Most of the patients complain about the aesthetics and few times for pain. The treatment is generally surgical there is controversy about of carrying out surgery. We reported two clinical cases with pseudoarthrosis of the right clavicle that they received surgical treatment with satisfactory results.

  9. The clinical application of CT in congenital Wart disease%CT在先天性心脏病中的临床应用概况

    Institute of Scientific and Technical Information of China (English)

    司彪

    2011-01-01

    With the technical developmenr of compured tomography (CT) in software and hardware. CT was used for clinic more and more widely. The full text reviewed relevant literatures ro sum up the survey of clinical application of CT in' congénital heart disease.%随着计算机体层成像(computed tomography. CT)软硬件技术的发展.CT在临床中的应用越来越广泛.本文通过有关文献的复习.总结CT在先天性心脏病中的临床应用概况.

  10. 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...

  11. Sequencing of Simulation and Clinic Experiences in an Introductory Pharmacy Practice Experience

    OpenAIRE

    Leon, Nicholas; Hajjar, Emily; DeSevo Bellottie, Gina

    2015-01-01

    Objective. To examine how the intrasemester sequencing of a simulation component, delivered during an ambulatory care introductory pharmacy practice experience (IPPE), affects student performance on a series of 3 assessments delivered during the second professional (P2) year.

  12. Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens Correlación de las características clínicas con mutaciones del gen CFTR en pacientes argentinos con ausencia bilateral congénita de vasos deferentes

    OpenAIRE

    Levy, Estrella M; Patricia Granados; Vanesa Rawe; Santiago Brugo Olmedo; María C Luna; Eduardo Cafferata; Omar H Pivetta

    2004-01-01

    Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. Here we identify different mutations of CFTR and the poly-T variant of intron 8 (IVS8) in Argentine patients and analyze sweat test values and clinical characteristic related to Cystic Fibrosis (CF). For counseling purposes the two most frequent mutations in Argentine CF population: DF508 and G542...

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

    Science.gov (United States)

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

    2015-10-01

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

  14. A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

    Directory of Open Access Journals (Sweden)

    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.

  15. 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。

  16. 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.)

  17. 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.)

  18. Congenital adrenal hyperplasia: Case report.

    Directory of Open Access Journals (Sweden)

    Jaime Avaria E.

    2013-04-01

    Full Text Available INTRODUCTION: Congenital adrenal hyperplasia (CAH is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are androgen excess and insufficiency of cortisol and mineralocorticoids. So this may manifest as a sex differentiation disorder (virilization of the external genitalia if the fetus is female and adrenal insufficiency. For diagnosis are considered the family history, clinical manifestations, measuring 17-hydroxyprogesterone levels and detection of genetic alteration. CASE REPORT: Patient with a family history of a brother with HSC brother, born with a disorder of sexual differentiation and is discharged with legal male sex. After three months develops adrenal insufficiency and was diagnosed with classical HSC salt-wasting form and determined female karyotype. DISCUSSION: The Pillars of the HSC are handling genetic counseling in families at risk, prenatal treatment with dexamethasone, postnatal glucocorticoid therapy and surgical treatment of disorders of the external genitalia, along with new research based therapy gene and the use of stem cells, requiring this way an integral view of HSC.

  19. 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.)

  20. Congenital Triangular Alopecia

    OpenAIRE

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders s...

  1. Congenital ocular motor apraxia

    OpenAIRE

    Carrasquinho, S; Teixeira, S.; Cadete, A; Bernardo, M.; Pêgo, P; Prieto, I.

    2008-01-01

    PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scienti...

  2. Congenital syphilis surveillance

    OpenAIRE

    Antonella Marangoni; Alessandra Moroni; Elisabetta Tridapalli; Maria Grazia Capretti; Antonietta D’Antuono; Marina Biagi; Sanzio Ruscello; Franca Savioli; Roberto Cevenini

    2011-01-01

    Congenital syphilis (CS) is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was...

  3. Congenital nasal lipoma

    International Nuclear Information System (INIS)

    The authors describe a rare case of congenital lipoma of a nose and nasopharynx in a 7 months old girl. The tumor, about 7 x 2 cm was situated in the right nasal cavity and the nasopharynx. The tumor caused complete obstruction of the right side of the nose. After CT diagnosis the tumor was excised from intranasal approach. Histological examination disclosed lipoma. The duration of follow up was 10 months without any sight of recurrence. (author)

  4. Surgery for Congenital Cataract

    OpenAIRE

    David Yorston FRCS FRCOphth

    2004-01-01

    The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  5. Congenital lobar emphysema. A rare cause of hypertension.

    Science.gov (United States)

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

    2016-07-01

    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 occured 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

  6. CONGENITAL DISLOCATION OF RIGHT HIP JOINT: IMPORTANCE OF DYNAMIC ASSESSMENT

    Directory of Open Access Journals (Sweden)

    Pranita viveki

    2014-11-01

    Full Text Available Congenital Dislocation of Hip (CDH, is one of the most common congenital diseases in the orthopedic field. It is also known as Developmental Dysplasia of Hip. The condition can be diagnosed by clinical, ultrasonographic and radiological examination. Here we are reporting two days old male baby with congenital dislocation of right hip joint. The goal of treatment is to obtain a reduction to provide an optimal environment for femoral head and acetabular development. Early diagnosis is the most crucial aspect of the treatment of children with congenital dislocation of hip. If dislocation remains undiagnosed or neglected, the secondary pathological changes take place. Education of primary care colleagues, in making the diagnosis and prompt referral for management is recommended.

  7. Congenital ossicular malformation. A study of 27 ears

    International Nuclear Information System (INIS)

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

  8. UNILATERAL MEMBRANOUS ATRESIA WITH OSSICULAR MALROTATION AND CONGENITAL CHOLESTEATOMA

    Directory of Open Access Journals (Sweden)

    Sibhithran

    2016-03-01

    Full Text Available INTRODUCTION Congenital cholesteatoma is a rare entity, arising from aberrant epithelial remnants left at the time of closure of the neural groove between the third and fifth week of fetal life with incidence ranging from 4 to 24%. Congenital membranous atresia is more common on right side and unilateral presentation is a rarity in females which is seen in our case. Here we report a rare case of 44 year old female with bilateral hard of hearing which is more on right side with ear discharge and was diagnosed by CT scan to have congenital unilateral membranous atresia with rare finding of ossicular malrotation associated with congenital cholesteatoma which are extremely rare combination of findings in a single patient. Knowing such rarity may help in appropriate surgical approach when confronted with such cases in clinical practice.

  9. Nursing faculty teaching a module in clinical skills to medical students: a Lebanese experience

    Directory of Open Access Journals (Sweden)

    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

  10. CONGENITAL DUODENAL OBSTRUCTIONS

    Directory of Open Access Journals (Sweden)

    S.G. Aprodu

    2005-07-01

    Full Text Available The purpose of this study is to analyze a cohort of 46 cases of congenital duodenal obstruction, operated on between 1996 and 2002, 23 of them being diagnosed in neonatal period. In one case, the diagnosis was made antenatally, by ultrasonography. There were 15 males and 8 females, 17 with duodenal atresia and 6 with duodenal diaphragmatic stenosis. Surgery was performed in all cases, consisting in lateral duodeno-duodenal anastomosis in 5 cases and "diamond-shape" duodeno-duodenal anastomosis in 18 cases. The survival rate in this study was 69.5%. 12 cases (52,1% had other congenital pathologies: trisomy 21 (6 cases, multiple ileal atresia (2 cases, dextrocardy (2 cases, omphalocel (1 case, situs inversus (1 case. The complications of surgery were: anastomotic leaking with peritonitis, biliary fistula, intestional adhesions with occlusion. Congenital duodenal obstruction (midgut volvulus, atresia, stenosis remains a challenging issue for pediatric surgeons, especially in our country, due to limited possibilities of quick diagnosis and treatment of associated anomalies.

  11. Cardiopatia congênita no adulto: perfil clínico ambulatorial no Hospital das Clínicas de Ribeirão Preto Congenital heart disease in adults: outpatient clinic profile at the Hospital das Clínicas of Ribeirão Preto

    Directory of Open Access Journals (Sweden)

    Fernando Amaral

    2010-06-01

    Full Text Available FUNDAMENTO: Experiências de serviços em adultos com cardiopatias congênitas não têm sido relatadas no nosso meio. OBJETIVO: Descrever o perfil clínico básico de adultos com cardiopatias congênitas atendidos ambulatorialmente em centro terciário. MÉTODOS: Anotaram-se dados referentes a idade, sexo, procedência, diagnóstico principal e diagnósticos secundários de 413 pacientes atendidos durante sete anos. RESULTADOS: G1 (não tratados: 195 pacientes, 51% mulheres, 57% entre 14 e 30 anos, 80% residentes na região. As cardiopatias mais frequentes foram comunicação interventricular (CIV (31%, comunicação interatrial (CIA (29% e estenose pulmonar (7%. Os diagnósticos secundários predominantes foram hipertensão arterial (9% e arritmias (5%. G2 (tratados: 218 pacientes, 56% mulheres, 57% entre 14 e 30 anos, 81% residentes na região. As cardiopatias mais frequentemente tratadas foram CIA (36%, tetralogia de Fallot (14%, coarctação da aorta (12% e CIV (11%. Sessenta e nove (32% pacientes foram operados na idade adulta. Dezesseis (7% foram submetidos a um cateterismo intervencionista. Os diagnósticos secundários predominantes foram hipertensão arterial (18% e arritmias (8%. CONCLUSÃO: Na casuística, predominaram pacientes tratados invasivamente, residentes na região e a maioria com idade abaixo de 40 anos. Defeitos como CIA, CIV e estenose pulmonar predominaram no grupo não tratado, ao passo que, nos tratados, a maioria tinha sido submetida à correção de CIA, tetralogia de Fallot, coarctação da aorta e CIV. Hipertensão arterial e arritmias foram relevantes em ambos os grupos, sendo também registrada grande diversidade de outras comorbidades.BACKGROUND: Service experiences for adults with congenital heart disease have not been reported in our country. OBJECTIVE: To describe the basic clinical profile of adults with congenital heart disease in an outpatient tertiary care center. METHODS: We compiled data on age, gender

  12. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

    Science.gov (United States)

    Kinali, M; Beeson, D; Pitt, M C; Jungbluth, H; Simonds, A K; Aloysius, A; Cockerill, H; Davis, T; Palace, J; Manzur, A Y; Jimenez-Mallebrera, C; Sewry, C; Muntoni, F; Robb, S A

    2008-09-15

    The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone

  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. Clinical Engeneering Experience at the Hospital of the State University of Londrina

    OpenAIRE

    Ernesto Fernando Ferreyra Ramírez

    2002-01-01

    This paper describes the four-year experience of implementation of Clinical Engineering services at the Hospital of the State University of Londrina (HURNP/UEL). It was performed by the Electrical Engineering Department (DEEL), through a project involving lecturers and students from the Electrical and Civil Engineering Courses of the same university. The main objectives were the formation of human resources in the Clinical Engineering area and a positive contribution to the healthcare service...

  15. The experience of qualified nurses in assessing student nurses' clinical skills

    OpenAIRE

    Kelly, Mary

    2002-01-01

    The purpose of this study was to explore the experience of qualified nurses in assessing student nurses’ clinical skills. The writer’s interest in this area arose from the findings of reports in the UK and Ireland. These reports suggested that nurses do not feel adequately prepared for their roles in clinical assessment. The literature reviewed for this study highlights some of the difficulties surrounding assessment. Two areas identified are: lack of preparation for a role in assessment an...

  16. Student nurses’ perception of the clinical midwifery experience as a learning environment

    OpenAIRE

    R. Dürrheim

    1993-01-01

    The student nurse may have a different perception of her learning environment from that which the instructor intended. The purpose of the study was to determine the perception of student nurses of clinical midwifery experience as a teaming milieu. Student nurses in their third and fourth year at a nursing college in Transvaal were involved in the research. A literature study regarding factors that can influence clinical learning of student nurses in the midwifery units was done. Questionaires...

  17. A systematic review of evidence on the links between patient experience and clinical safety and effectiveness

    OpenAIRE

    Doyle, Cathal; Lennox, Laura; Bell, Derek

    2013-01-01

    Objective To explore evidence on the links between patient experience and clinical safety and effectiveness outcomes. Design Systematic review. Setting A wide range of settings within primary and secondary care including hospitals and primary care centres. Participants A wide range of demographic groups and age groups. Primary and secondary outcome measures A broad range of patient safety and clinical effectiveness outcomes including mortality, physical symptoms, length of stay and adherence ...

  18. Evaluation of Adults With Congenital Heart Disease.

    Science.gov (United States)

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD. PMID:26957402

  19. Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

    International Nuclear Information System (INIS)

    The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, from January 2000 to December 2007, at the Children's Hospital and the Institute of Child Health, Lahore. Methodology: Suspected patients presenting with fever, pallor, bruises and hepatosplenomegaly and diagnosed as either transient myeloproliferative disorder or congenital leukaemia were studied. The complete blood count, reticulocyte count, leukocyte alkaline phosphatase score, liver function tests, karyotyping studies and bone marrow aspiration biopsy were performed in all of those patients. Management and out come was noted. Results were described as frequency percentages. Results: Out of 10,000 patients presenting during this period, 24 patients were diagnosed as either of transient myeloproliferative syndrome or congenital leukaemia. Fifteen of these were diagnosed as patients of TMS and 9 as patients of congenital leukaemia. Down syndrome (DS) was diagnosed in 75% of these patients. TMS patients were put on supportive treatment and recovered spontaneously. One DS patient with congenital leukaemia went into spontaneous remission and 2 of DS patients with congenital leukaemia responded to chemotherapy while rest of them either died or lost to follow-up. Conclusion: TMS and congenital leukaemia were not very uncommon in the studied population. Majority had Down syndrome. It is important to differentiate their clinical and pathological presentations for proper management. TMS may resolve with supportive treatment while congenital leukaemia is a fatal condition requiring chemotherapy. (author)

  20. Radiological findings of congenital megacolon

    International Nuclear Information System (INIS)

    Congenital megacolon, known as Hirschsprung's disease, is potentially lethal cogenital anomaly due to dangerous complications if diagnosis and treatment are delayed. Early diagnosis is important because immediate successful surgical control reduces mortality and morbidity of this infantile disease and barium enema study is the most important diagnostic tool. Authors analyzed clinical and radiological findings of 41 cases of confirmed congenital megacolon during December 1978 to July 1980 at Seoul National University Hospital. Majority of the cases are male and below one year old. Majority of the cases represent abdominal distension, chronic constipation relieved by enema, no passage of meconium within 24hrs, after birth, vomitting, defication difficulty and emaciation. Cases of showing exudative enteropathy complaints diarrhea, dehydration and melena. In simple abdomen film, 25 cases show moderate degree of abdominal distention and 10 cases show markedly distended abdomen. Most frequent segmental pattern is type C (26.8%) and type B is the next (24.4%), and type A occupy 14.6%. There are one case of jejunal aganglionosis and two cases of total colonic aganglionosis. Most frequent shape of transition zone is type II (34%), and type VI is the next (24%) and type IV occupy 17%. In 82% of the cases show hypertrophy of bowel wall of dilated segment, and 85% of above cases show findings of exudative enteropathy. In 73% of the cases show exudative enteropathy. Almost of cases showing markedly distended abdomen, also have moderate to marked degree of hypertrophy of bowel wall and findings of exudative enteropathy. Three cases were taken 24hrs. delay film, show retention of the main bulk of barium

  1. Radiological findings of congenital megacolon

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Chung, Sung Hoon; Park, Jae Hyung [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1980-12-15

    Congenital megacolon, known as Hirschsprung's disease, is potentially lethal cogenital anomaly due to dangerous complications if diagnosis and treatment are delayed. Early diagnosis is important because immediate successful surgical control reduces mortality and morbidity of this infantile disease and barium enema study is the most important diagnostic tool. Authors analyzed clinical and radiological findings of 41 cases of confirmed congenital megacolon during December 1978 to July 1980 at Seoul National University Hospital. Majority of the cases are male and below one year old. Majority of the cases represent abdominal distension, chronic constipation relieved by enema, no passage of meconium within 24hrs, after birth, vomitting, defication difficulty and emaciation. Cases of showing exudative enteropathy complaints diarrhea, dehydration and melena. In simple abdomen film, 25 cases show moderate degree of abdominal distention and 10 cases show markedly distended abdomen. Most frequent segmental pattern is type C (26.8%) and type B is the next (24.4%), and type A occupy 14.6%. There are one case of jejunal aganglionosis and two cases of total colonic aganglionosis. Most frequent shape of transition zone is type II (34%), and type VI is the next (24%) and type IV occupy 17%. In 82% of the cases show hypertrophy of bowel wall of dilated segment, and 85% of above cases show findings of exudative enteropathy. In 73% of the cases show exudative enteropathy. Almost of cases showing markedly distended abdomen, also have moderate to marked degree of hypertrophy of bowel wall and findings of exudative enteropathy. Three cases were taken 24hrs. delay film, show retention of the main bulk of barium.

  2. Visual dreams in the congenitally blind?

    Science.gov (United States)

    Lopes da Silva, Fernando H.

    2003-08-01

    An EEG study of sleep in congenitally blind persons revealed a significant correlation between the visual activity reported during dreaming and the decrease of alpha strength recorded from the central and occipital regions of the scalp. This provides the first objective evidence that subjects who have never had visual experiences can have dreams with virtual images that are probably mediated by the activation of the cortical areas responsible for visual representations. PMID:12907221

  3. Clinical accompaniment: the critical care nursing students’ experiences in a private hospital

    Directory of Open Access Journals (Sweden)

    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.

  4. Informed Practice: Students' Clinical Experiences in the Undergraduate Phase of an Accelerated Physician Assistant Program.

    Science.gov (United States)

    Dereczyk, Amy; DeWitt, Rachel

    2016-06-01

    This qualitative study explored the clinical experiences of students in an accelerated physician assistant (PA) program. The participants were either certified nursing assistants (CNAs) or emergency medical technicians-basic (EMTs-B). The study was designed to elicit (1) how the participants perceived their older patients and (2) how the participants' experiences might affect their own future communications, bedside manner, and clinical preparedness as PAs. This study used a focus group to explore students' clinical experiences before the graduate phase of their accelerated PA program. Five female and 2 male PA students (N = 7) participated in the study. All participants were 23 years old and worked as either a CNA or an EMT-B. Results fell into 2 basic themes: informing practice and forming relationships. Regarding the first theme, participants felt that their experience as entry-level health care providers allowed them to improve their communication skills and bedside manner and to provide greater comfort to patients. Regarding the second theme, participants gained appreciation for older people and began to recognize the knowledge deficits and learning needs of their patients. The results suggested that a student's clinical experience as a CNA or an EMT-B before entering a PA program has a positive effect on the student's personal and professional development. The participants acquired greater appreciation and respect for older patients and members of the health care team. PMID:27123599

  5. Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

    International Nuclear Information System (INIS)

    Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

  6. Congenital lobar emphysema: Pitfalls in diagnosis.

    Science.gov (United States)

    Chinya, Abhishek; Pandey, Prince Raj; Sinha, Shandip Kumar; Sarin, Yogesh Kumar

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results. PMID:27185998

  7. Congenital lobar emphysema: Pitfalls in diagnosis

    Directory of Open Access Journals (Sweden)

    Abhishek Chinya

    2016-01-01

    Full Text Available Congenital lobar emphysema (CLE is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results.

  8. CONGENITAL DYSERYTHROPOIETIC ANEMIA: AN ETIOPATHOLOGICAL STUDY

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    Vinod Kumar

    2015-12-01

    Full Text Available AIMS To evaluate the role of blood and bone marrow findings in the diagnosis of congenital dyserythropoietic anaemias type I and type II. SETTINGS AND DESIGN Dyserythropoietic anaemia is suspected when there is a suboptimal reticulocyte response for the degree of anaemia. Congenital dyserythropoetic anaemias are a group of rare hereditary disorders of hematopoiesis. It is believed that CDA is often under diagnosed. Knowledge of CDA workup in a patient of haemolytic anaemia is often rewarding. MATERIALS AND METHODS All the cases diagnosed as CDA at a tertiary paediatric centre were reviewed with respect to clinical and serological data, peripheral smear and bone marrow study findings. The haematological changes in CDA were analyzed with respect to the diagnosis. RESULTS AND CONCLUSION The light microscopic findings of the peripheral smear and bone marrow aspirate were found to be highly specific for the diagnosis of CDA. Significant differences were also noted between type I and type II CDA.

  9. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Home Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  10. Genetics Home Reference: congenital hepatic fibrosis

    Science.gov (United States)

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  11. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  12. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  13. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... Home Health Conditions severe congenital neutropenia severe congenital neutropenia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Severe congenital neutropenia is a condition that causes affected individuals to ...

  14. Congenital cystic lesions of lung in the paediatric population: A 5-year single institutional study with review of literature

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    Shibsankar Barman

    2015-01-01

    Full Text Available Background: The aim was to evaluate the clinical presentation, investigation modalities, operative management, pathology, outcome (morbidity and mortality and short term follow-up of congenital cystic lesions of the lung. Materials and Methods: This is a retrospective study. Study period was 5 years (December 2008-November 2013 in the Department of paediatric surgery, Nil Ratan Sircar Medical College. Study population: Total number = 10 patients. Age range: 2 days-7 years. (Neonate-4. Male and female ratio = 1:1. Result: Among 10 cases of lung cyst four having congenital lobar emphysema, four having congenital pulmonary airway malformation, one sequestration and one teratoma. All patients have undergone surgical excision in terms of lobectomy or excision of the lesion. Post-operative histopathology confirmed the diagnosis. Recovery was uneventful. Conclusion: Although our experience is limited, operative management of lung cysts seems to be safe with rewarding results. However we are yet to encounter many of the other varieties of the cysts found in the lung, which may be associated with other congenital anomalies and have an impact on prognosis.

  15. The South African Military Nursing College Pupil Enrolled Nurses’ experiences of the clinical learning environment

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    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

  16. Body Experience and Mirror Behaviour in Female Eating Disorders Patients and non Clinical Subjects

    OpenAIRE

    Michel Probst; Guido Pieters; Davy Vancampfort; Johan Vanderlinden

    2008-01-01

    Recently the attention for mirror exercises in therapies targeted specifically to body experience concerns has increased. This retrospective study will explore the mirror behaviour of anorexia nervosa (AN), bulimia nervosa (BN) and non-clinical female subjects (CG) and investigate whether mirror avoidance or checking are related to negative body experiences. The group of eating disorders consisted of 560 AN and 314 BN patients. The control group consisted of 1151 female subjects. The Body ...

  17. Women's Management of Recurrent Bacterial Vaginosis and Experiences of Clinical Care: A Qualitative Study.

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    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.

  18. 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. PMID:26933101

  19. Comparison between the incidence of right and left sided congenital torticollis

    International Nuclear Information System (INIS)

    Congenital torticollis is an intriguing condition of unknown origin, characterized by unilateral shortening and tightness of the sternocleidomastoid muscle. Patients usually present with head tilt, facial asymmetry and plagiocephaly. A sternomastoid mass or tumor may or may not be clinically apparent. Untreated, cervical function and facial cosmesis may be severely compromised. Objective: My study is aimed at establishing a comparison between the incidence of right versus left sided congenital torticollis. Method: This observational study included 30 patients of congenital torticollis that completed the questionnaire. The data was collected from patients coming to the Physiotherapy and Orthopedic departments of Children Hospital, Lahore. Results: Results showed that right side was involved in 19 (63.3%) patients and left side was involved in 11 (36.7%) patients. Out of 30 patients, 14 (46.7%) were male, of which 8 had right sided congenital torticollis and 6 had left sided congenital torticollis, and 16 (53.3%) were female, of which right sided congenital torticollis and 5 had left sided congenital torticollis. Conclusion: Hence it is concluded that incidence of right sided congenital torticollis is more common than left sided congenital torticollis. The incidence of con-genital torticollis is higher in females than in males. (author)

  20. Trastornos congénitos de la glicosilación de las proteínas: patogenia y aspectos clínicos Congenital disorders of glycosylation of proteins. Pathogeny and clinical features

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    N. Higuera

    2011-01-01

    Full Text Available Objetivo. Este trabajo se propone actualizar los conocimientos a cerca de los trastornos congénitos de la glicosilación de las proteínas (CDG, en los aspectos referentes a la patogenia y manifestaciones clínicas. Desarrollo. Realizamos una revisión de la literatura considerandola evolución histórica de estas enfermedades, las bases bioquímicas y genéticas que permiten una clasificación, así como las manifestaciones clínicas; se hace especial hincapié en la descripción de la variante CDG Ia, la forma más frecuente, de la que se describen las tres etapas evolutivas: infantil multisistémica, infantil tardía y del adulto; de forma más breve se comentan las características de las variantes CDG Ib y CDG Ic. Conclusiones. Los CDG constituyen una patología emergente que dada su heterogeneidad clínica debe sospecharse en todo paciente con un cuadro neurológico inexplicable, en particular si junto a retraso psicomotor, hipotonía y epilepsia, asocia alteraciones hepáticas o de la coagulación, así como en casos de hipoplasia cerebelosa u olivo pontocerebelosa de aparición en el período neonatal. Objective. This work aims to provide an up-date on the knowledge regarding congenital disorders of glycosylation (CDG of proteins in aspects on pathogeny and clinical manifestations. Development. We performed a review of the literature, considering the historical course of these diseases, biochemical and genetic bases that permit their classification and the clinical manifestations. Special emphasis is placed on the description of the CDG Ia variant, the most frequent form, describing the three evolutive states: infantile multisystem late-infantile and adult. Briefly, we comment on the characteristics of the CDG Ib and CDG Ic variants. Conclusions. CDG is an emerging disease that, given its clinical heterogeneity, should be suspected in all patients with an unexplainable neurological picture, especially if it is accompanied by psychomotor

  1. 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.

  2. Multidetector computed tomography imaging of congenital anomalies of major airways: A pictorial essay.

    Science.gov (United States)

    Sundarakumar, Dinesh Kumar; Bhalla, Ashu Seith; Sharma, Raju; Gupta, Arun Kumar; Kabra, Susheel Kumar; Jagia, Priya

    2011-12-28

    Congenital airway anomalies can be asymptomatic or may cause severe respiratory distress requiring immediate treatment. These anomalies can present early in life, or may be just incidental findings. It is important to recognize these entities to realize their clinical significance and to avoid false diagnosis. In this article, the various congenital airway anomalies and their imaging features by multidetector computed tomography (MDCT) are reviewed in order of occurrence during the embryological timeline. This pictorial essay reviews the various distinct congenital airway lesions and their MDCT manifestations. It also provides insight into the embryological basis of the congenital airway lesions encountered. PMID:22224177

  3. Why Clinical Experience and Mentoring Are Replacing Student Teaching on the Best Campuses. A White Paper

    Science.gov (United States)

    Fraser, James W.; Watson, Audra M.

    2014-01-01

    Woodrow Wilson Senior Fellow James W. Fraser and Audra Watson, the Foundation's Director of Mentoring and Induction Strategy, take a look at emerging trends in clinical preparation for new teachers. This new white paper is based on experience with the Woodrow Wilson Teaching Fellowships, and includes observations from some of the colleges and…

  4. Clinical experience with mycophenolate mofetil in systemic autoimmune conditions refractory to common immunosuppressive therapies

    OpenAIRE

    Bandelier, Cédric; Guerne, Pierre-André; Genevay, Stéphane; Finckh, Axel; Gabay, Cem

    2009-01-01

    OBJECTIVES: Standard therapies against inflammatory rheumatic diseases consist of immunosuppressive drugs with high toxicities and many side effects. Except in the treatment of systemic lupus erythematosus with renal involvement, controlled studies with mycophenolate mofetil (MMF) are lacking in other autoimmune and inflammatory systemic diseases. Here we describe our clinical experience with MMF in several unusual indications. METHODS: We collected data including serological findings, advers...

  5. Using a Web-Based Database to Record and Monitor Athletic Training Students' Clinical Experiences

    Science.gov (United States)

    Brown, Kirk W.; Williams, Lisa; Janicki, Thomas

    2008-01-01

    Objective: The purpose of this article is to introduce a documentation recording system employing the Microsoft Structured Query Language (MS-SQL) database used by the Athletic Training Education Program (ATEP) for recording and monitoring of athletic training student (ATS) clinical experiences and hours. Background: Monitoring ATSs clinical…

  6. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  7. Deficiencia congénita de complemento: C3 y C4: Comunicación de un caso clínico Congenital deficiency of the C3 and C4 fractions of complement: A clinical report

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    ALEXIS STRICKLER P

    2006-06-01

    Full Text Available La deficiencia congénita del 3er constituyente del Complemento (C3 es extremadamente rara, y se expresa clínicamente como un defecto de la inmunidad humoral. Se comunica un caso de deficiencia C3 y C4 en un lactante de sexo femenino de 1 año de edad, hijo de padres consanguíneos, que presentó un cuadro de meningoencefalitis aguda de etiología no precisada, con secuela neurológica severa e infecciones bacterianas recurrentes, respiratorias y urinarias, septicemia y osteomielitis, con respuesta parcial a antimicrobianos. El estudio de inmunidad humoral y celular (subpoblaciones linfocitarias, inmunoglobulinas séricas y subclases de IgG fue normal, demostrándose déficit de C3 y C4 con CH50 ausente en la niña y cifras bajas de C3 y C4, cercanas al 50% del valor normal en ambos padresCongenital deficiency of C3 fraction of the complement is a very rare condition. Clinically it is expressed as a deficiency of the humoral immunity. We report a case of C3 and C4 deficiency in a 1 year old infant girl. Her parents have a high consanguinity. She presented an acute meningoencephalitis of unknown etiology, and she evolved with severe neurological damage, and recurrent respiratory and urinary bacterial infections, sepsis and osteomielitis, with partial response to antimicrobials. The tests to investigate humoral and cellular immune response (lymphocyte subpopulations, serum immunoglobulins and subtypes of IgG were normal. The patient had a deficit of C3 and C4, mainly C3, with absence of CH50. Both of her parents had C3 and C4 about 50% of normal values, and CH50 slightly under the normal values

  8. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

    OpenAIRE

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or...

  9. Prevalence of Congenital Malformations

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    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  10. Managing congenital hyperinsulinism: improving outcomes with a multidisciplinary approach

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    Ackermann AM

    2015-07-01

    Full Text Available Amanda M Ackermann, Andrew A Palladino Division of Endocrinology and Diabetes, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA Abstract: Congenital hyperinsulinism (CHI is the most common cause of persistent hypoglycemia in pediatric patients and is associated with significant risk of hypoglycemic seizures and developmental delays. CHI results from mutations in at least nine genes that play a role in regulating beta-cell insulin secretion. Thus, patients with CHI have dysregulated insulin secretion that is unresponsive to blood glucose level. Each different genetic etiology of CHI is associated with particular clinical characteristics that affect management decisions. Given the broad phenotypic spectrum and relatively rare prevalence of CHI, it is important that patients with CHI be evaluated by clinicians experienced with CHI and the multiple subspecialty services that are necessary for the management of the disorder. In this review, we summarize the pathophysiology and genetic causes of CHI and then focus primarily on the most common genetic cause (mutations in the ATP-gated potassium [KATP] channel for further discussion of diagnosis, medical and surgical management, and potential acute and chronic complications. We provide insight from relevant published studies and reports, in addition to anecdotal information from our center’s clinical experience in caring for over 400 patients with CHI. Careful assessment of each patient’s individual pathophysiology is necessary to determine the appropriate treatment regimen, and continued close follow-up and monitoring of disease- and treatment-related complications are essential. Although significant improvements have been made in the past several years with regard to diagnosis and management, given the continued high morbidity rate in patients with CHI, improved diagnostic techniques and new therapeutic options would be welcomed. Keywords: hypoglycemia, hyperinsulinism, beta

  11. Congenital acute megakaryocytic leukemia

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    N B Mathur

    2011-01-01

    Full Text Available Congenital leukemia (CL is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7 or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

  12. Congenital anterior urethral diverticulum.

    Science.gov (United States)

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  13. [Personal experiences with induced abortions in private clinics in Northeast Brazil].

    Science.gov (United States)

    Silveira, Paloma; McCallum, Cecilia; Menezes, Greice

    2016-01-01

    Based on a qualitative study conducted in 2012, the article analyzes middle-class individuals' experiences with induced abortions performed in private clinics. Thirty-four stories of induced abortions were narrated by 19 women and five men living in two state capitals in Northeast Brazil. Thematic analysis revealed differences in types of clinics and care provided by the physicians. The article shows that abortion in private clinics fails to guarantee safe or humane care. The narratives furnish descriptions of diverse situations and practices, ranging from flaws such as lack of information on medicines to others involving severe abuses like procedures performed without anesthesia. The article concludes that criminalization of abortion in Brazil allows clinics to operate with no state regulation; it does not prevent women from having abortions, but exposes them to total vulnerability and violation of human rights. PMID:26958817

  14. The experience of graduated midwifery students about clinical education: A phenomenological study

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    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.

  15. Major congenital defects. Relevant risk factors. Cienfuegos. 2000-2005.

    Directory of Open Access Journals (Sweden)

    Vivian Vázquez Martínez

    2008-04-01

    Full Text Available Background: Major congenital defects have an impact on perinatal mortality and morbidity with economic and social consequences. Objective: To determine the relevant risk factors linked to the occurrence of congenital defects in Cienfuegos between 2000 and 2005. Methods: A case-control study was carried out. Women with fetus or newborns with major congenital defects formed the case group (255 while the control group consisted of a similar number of healthy children selected each year by a randomized simple sample. The variables gathered by the Cuban Congenital Defects Records were studied. Chi-Square method was used with 95% of accuracy and a reliance rate of 95%; logistic regression was used with the Wald test. Results: There was a predominance of Central Nervous System defects (28, 6%. The most relevant risk factors were a history of congenital defects, smoking habits, and acute infection during the first three months, as well as belong to the third birth on. Conclusion: The most clinical relevant risks factors were the congenital defect history and the acute infection during the firs three months.

  16. Congenital Malformation Prevalence in Cluj District between 2003-2007

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    Ştefan I. ŢIGAN

    2009-12-01

    Full Text Available Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and Method: The study was retrospective and was carried on for a period of five years (2003-2007 based on medical records and on laboratory results, (especially those for TORCH screening: toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Results: Major structural anomalies were present at 39.51% (388 cases of 982 patients which were registered in Genetic Pathology Center from Pediatric Clinics I, Cluj-Napoca. Diagnosed abnormalities included: congenital malformations of circulatory, respiratory, digestive, central nervous system, congenital malformations of skeletal system, Down syndrome, which is consistent with results of other studies showing that the most common are heart abnormalities (33.06%, followed in descending order of frequency by urinary, genital, CNS, skin, oral-facial cleft and digestive anomalies. Conclusions: Early detection of major malformation during early pregnancy can indicate for medical termination of pregnancy to reduce the high morbidity and mortality of neonates due to congenital malformations. So proper and timely counselling, regular antenatal care with folate supplementation especially during the most sensitive period of embryogenesis is essential to avoid major congenital malformation for future pregnancy.

  17. 女性生殖管道发育异常225例临床分析%Clinical analysis of 225 women with congenital uterine malformation

    Institute of Scientific and Technical Information of China (English)

    王世军; Mandakini Oli; 蒋励; 王建六; 魏丽惠

    2008-01-01

    目的 探讨子宫发育异常的发病情况、临床特征、诊治方法及其对生育的影响.方法 选取1990年3月-2005年1月北京大学人民医院收治的子宫发育异常患者225例的临床资料,进行回顾性分析,总结不同类型子宫发育异常的构成比、临床特征、诊治方法及对生育的影响.结果 (1)225例子宫发育异常患者中,中隔子宫125例,占55.6%,其中122例(97.6%,122/125)患者妊娠,但影响其妊娠结局,出现流产、胎位异常、早产、前置胎盘、胎膜早破等并发症.(2)双子宫51例,占22.7%(51/225);其中50例(98%,50/51)患者妊娠,对妊娠无明显影响;5例(10%,5/51)合并泌尿系统畸形.(3)残角子宫26例(11.6%,26/225),发生残角子宫妊娠4例(15%,4/26),残角子宫同侧输卵管妊娠1例(4%,1/26);2例(8%,2/26)合并泌尿系统畸形;合并不孕4例(15%,4/26).(4)双角子宫14例,占6.2%(14/225),无不孕患者,出现早产、胎膜早破等并发症;1例(7%,1/14)合并泌尿系统畸形.(5)其他类型:鞍状子宫4例(1.8%,4/225),无不孕患者;无子宫3例(1.3%,3/225),均以原发闭经就诊;单角子宫2例(0.9%,2/225),均合并不孕.结论 子宫发育异常中以中隔子宫最多见.中隔子宫、双子宫、双角子官、残角子宫、鞍状子宫对生育无明显影响,但在妊娠期可出现不同的并发症.子宫发育异常常合并泌尿系统畸形.无症状的子宫发育异常,可不予处理.%Objective To investigate the prevalence, clinical features, diagnosis, treatment and the influence on procreation of uterine malformation. Methods Totally 225 women with uterine malformation referred to our hospital from Mar 1990 to Jan 2005 were involved in this retrospective analysis.The constituent ratio, clinical feature, diagnosis, treatment and the influence on procreation were analyzed.Results (1) Among 225 cases of uterine malformation, 125 cases (55.6%) were septate uterus; 122(97.6%, 122/125 ) of these patients became pregnant, but

  18. Congenital pouch colon - Then and now

    Directory of Open Access Journals (Sweden)

    Gupta Devendra

    2007-01-01

    Full Text Available Congenital pouch colon (CPC, a condition associated with anorectal agenesis has been reported mainly from the Indian subcontinent though there have been few case reports from other areas. The pouch differs from a normal colon structurally, histologically and functionally. The management involves a diversion colostomy at birth with or without the excision of pouch followed by pull through. This review article attempts to compile all the available literature on pouch colon along with the authors′ experience and discuss the relevant issues for proper diagnosis and management. A changing trend has been seen in the most common type of CPC seen over the years from complete congenital pouch colon that accounted for more than 70% of cases earlier to incomplete pouch colon that is more commonly seen now.

  19. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  20. [Congenital defects and incapacity].

    Science.gov (United States)

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481