Hand function with touch screen technology in children with normal hand formation, congenital differences, and neuromuscular disease.

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Shin, David H; Bohn, Deborah K; Agel, Julie; Lindstrom, Katy A; Cronquist, Sara M; Van Heest, Ann E

2015-05-01

To measure and compare hand function for children with normal hand development, congenital hand differences (CHD), and neuromuscular disease (NMD) using a function test with touch screen technology designed as an iPhone application. We measured touch screen hand function in 201 children including 113 with normal hand formation, 43 with CHD, and 45 with NMD. The touch screen test was developed on the iOS platform using an Apple iPhone 4. We measured 4 tasks: touching dots on a 3 × 4 grid, dragging shapes, use of the touch screen camera, and typing a line of text. The test takes 60 to 120 seconds and includes a pretest to familiarize the subject with the format. Each task is timed independently and the overall time is recorded. Children with normal hand development took less time to complete all 4 subtests with increasing age. When comparing children with normal hand development with those with CHD or NMD, in children aged less than 5 years we saw minimal differences; those aged 5 to 6 years with CHD took significantly longer total time; those aged 7 to 8 years with NMD took significantly longer total time; those aged 9 to 11 years with CHD took significantly longer total time; and those aged 12 years and older with NMD took significantly longer total time. Touch screen technology has becoming increasingly relevant to hand function in modern society. This study provides standardized age norms and shows that our test discriminates between normal hand development and that in children with CHD or NMD. Diagnostic III. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Hand deforming arthropathy (Jaccoud’s syndrome in systemic lupus erythematosus

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A. P. Zhornyak

2005-01-01

Full Text Available Objective. To characterize Jaccoud’s syndrome - hand deforming arthropathy (HDA in systemic lupus erythematosus (SLE. Material and vethods. Analysis of 235 case histories of pts with SLE followed up in the Institute of Rheumatology of RAMS from 1982 to 2002 was performed. 26 from them had HDA according to D. Alarcon-Segovia criteria (1988. SLE activity was determined according to V.A Nassonova and SLEDAI-I scale. Results. 26 from 235 SLE pts (11 % had H DA. More than in 25% from them this damage formed during the first year of the disease and included nonerosive joint damage with the development of finger deformities such as "swan neck", "boutonniere", Z-deformity of thumb, muscle atrophia and ulnar deviation. Longer treatment with glucocorticoids put off HDA development (r=0,64, p=0,0003

Ulno-volar bayonet hand: Its differential diagnosis from Madelung's deformity

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Christ, F.

1981-04-01

The ulno-volar bayonet hand related to the mostly hereditary multiple exostoses is compared to Madelung's forearm deformity under clinical and roentgenological view in differential diagnosis. The ulno-volar bayonet hand is considerably more seldom, basing upon dysplasia of the lower part of the ulna, less inconvenient in function, and hardly tending to the development of early arthrosis.

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

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Malik, Sajid; Afzal, Muhammad

2013-03-01

Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

Visual Tracking of Deformation and Classification of Non-Rigid Objects with Robot Hand Probing

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Fei Hui

2017-03-01

Full Text Available Performing tasks with a robot hand often requires a complete knowledge of the manipulated object, including its properties (shape, rigidity, surface texture and its location in the environment, in order to ensure safe and efficient manipulation. While well-established procedures exist for the manipulation of rigid objects, as well as several approaches for the manipulation of linear or planar deformable objects such as ropes or fabric, research addressing the characterization of deformable objects occupying a volume remains relatively limited. The paper proposes an approach for tracking the deformation of non-rigid objects under robot hand manipulation using RGB-D data. The purpose is to automatically classify deformable objects as rigid, elastic, plastic, or elasto-plastic, based on the material they are made of, and to support recognition of the category of such objects through a robotic probing process in order to enhance manipulation capabilities. The proposed approach combines advantageously classical color and depth image processing techniques and proposes a novel combination of the fast level set method with a log-polar mapping of the visual data to robustly detect and track the contour of a deformable object in a RGB-D data stream. Dynamic time warping is employed to characterize the object properties independently from the varying length of the tracked contour as the object deforms. The proposed solution achieves a classification rate over all categories of material of up to 98.3%. When integrated in the control loop of a robot hand, it can contribute to ensure stable grasp, and safe manipulation capability that will preserve the physical integrity of the object.

Three-dimensional assessment of the temporal bone and mandible deformations in patients with congenital aural atresia.

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Fu, Yaoyao; Li, Chenlong; Dai, Peidong; Zhang, Tianyu

2017-10-01

To investigate the deformations of temporal bone and mandible combined with congenital aural atresia. A total of 158 patients with congenital aural atresia were included in the study. The raw CT data of the temporal bone was imported into MIMICS v 12 and threshold dissection, region growing and three-dimensional (3D) calculation were used to calculate 3D models. The 3D characteristics of the temporal bone and upper part of mandible were assessed. The tympanic part of the temporal bone was all undeveloped. Of all the patients included, 14 patients were found to have severe maxillofacial malformations. Among them, 2 cases have floating arch, 4 cases have interrupted arch, 5 cases have mandibular processes hypoplasia and 3 cases have interrupted arch combined with severe maxillary malformation. Ten of the 14 patients were suffered from dysplasia of the mastoid part of the temporal bone as well. Maxillofacial malformations may sometimes coexist with congenital aural atresia. Otolaryngologists should not neglect the coexisted maxillofacial malformations and give timely referral to maxillofacial surgeons. Copyright © 2017. Published by Elsevier B.V.

Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging.

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Trenga, Anthony P; Singla, Anuj; Feger, Mark A; Abel, Mark F

2016-08-01

Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. All patients aged ≤13 years (n = 75) presenting to the pediatric spine clinic from 2003-2013 with congenital bony spinal deformity and both radiographs and MRI were analyzed retrospectively for bone and neural pathology. Chi-squared analysis was used to compare groups for categorical dependent variables. Independent t tests were used for continuous dependent variables. Significance was set at p formation had a higher incidence of cord anomalies (73 %) than failures of formation (50 %) or segmentation (45 %) alone (p = 0.065). Deformities in the sacrococcygeal area had the highest rate of spinal cord anomalies (13 of 15 patients, 87 %). In 35 cases (47 %), MRI revealed additional bony anomalies that were not seen on the radiographs. As the number of bony malformations increased, we found a higher incidence of cord anomalies. Clinicians should have increased suspicion of spinal cord pathology in the presence of mixed failures of segmentation and formation.

[Which foot deformities should be radiologist be familiar with?

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von Stillfried, E

2018-05-01

Most deformities of the foot are visible at birth and can be diagnosed without imaging. They can be divided into congenital flexible, congenital structural and acquired foot deformities. The most common congenital flexible foot deformity in children is the metatarsus adductus, which usually requires no long-term therapy. Regarding congenital structural deformities, such as the clubfoot and talus verticalis, plaster therapy should be started during the first week of life, so that by the end of the first year of life and the beginning of the verticalization, a pain-free resilient foot with normal function is present. Imaging is usually only necessary if a relapse arises. Coalitio of the tarsal bones is often visible only in the course of growth through the development of a rigid flatfoot and always requires imaging to confirm the diagnosis. This article is intended to give the radiologist an overview of the most important deformities and to inform about their course and therapy.

Congenital Amputation Involving the Hands and Feet: A Case Report

African Journals Online (AJOL)

There were forefoot amputations on both lower limbs. Scars were noticed over the amputation stumps with no associated congenital anomaly. Conclusion: Congenital amputation involving all limbs as an isolated entity is a rare condition; the cause of which is probably as a result of congenital amniotic bands. Keywords: ...

Multifocal Congenital Hemangiopericytoma.

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

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

What's New in Congenital Scoliosis?

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Pahys, Joshua M; Guille, James T

2018-03-01

Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

[Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss].

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Li, Youjin; Yang, Jun; Li, Yun

2011-01-01

To analyze the constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss(SNHL). Imaging and auditory data of 125 cases (225 ears) in 860 pediatric patients with congenital SNHL who referred to ENT department of Shanghai Children Medical Center from February 2005 to January 2010 were retrospectively studied. Congenital malformations of inner ear accounted for 14.5% in 860 pediatric patients with congenital SNHL. Bilateral ear was involved in 98 cases (78.4%), unilateral in 27 cases (21.6%). One hundred and sixty-seven ears (74.2%) were identified as profound deafness, 36 ears (16%) severe deafness and 22 ears (9.8%) moderate deafness in 225 ears, respectively. In present group, large vestibular aqueduct (75.6%) was the most common and next was vestibular deformity (32%), then cochleovestibular deformity (23.1%). Mondini deformity (55.8%) was the most common and common cavity deformity (28.9%) next in cochleovestibular deformity. Profound deafness in cochlea involved congenital malformations of inner ear was significantly more than those in no cochlea involved malformations. The results are of importance for understanding the constitute of congenital malformations of inner ear in pediatric patients with congenital SNHL in China, for etiological diagnosis of congenital SNHL, for intervention including hearing aids or cochlear implant and prognosis.

Helical CT of congenital ossicular anomalies

International Nuclear Information System (INIS)

Osada, Hisato; Machida, Kikuo; Honda, Norinari

2001-01-01

Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

Parental Assessment of Status of Congenital Upper Limb Differences: Analysis of the Pediatric Outcomes Data Collection Instrument.

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Wall, Lindley B; Shen, Tony; Roberts, Summer; Goldfarb, Charles A

2016-03-01

To determine the range of the Pediatric Outcomes Collection Instrument (PODCI) scores for children with a wide variety of congenital upper limb differences and to examine the scoring effect of the patient's surgical history, family history, severity of involvement, and syndromic associations. We reviewed the PODCI scores for 109 patients, aged 2-18 years, treated for nontraumatic upper extremity conditions. Charts were reviewed for sex, age, extent of limb involvement, laterality, family history, surgical history, and syndrome association. All patients were classified based on the Oberg, Manske, Tonkin classification with general categories of malformation, deformation, or dysplasia. Of 109 patients, 80 (73%) had a malformation, 12 (11%) had a deformation, and 17 (16%) had a dysplasia. The cohort as a whole had a happiness PODCI score that was similar to the normal population, yet a lower (worse) PODCI score for upper extremity and global function. Patients with a dysplasia had a higher upper extremity function scores than those with malformations or deformations, but they had similar happiness and global function scores. Complete upper limb involvement and lower extremity involvement statistically lowered the PODCI score within our study cohort, whereas a positive family history and syndromic association increased PODCI scores. This study showed that there was a similar level of perceived happiness between children/adolescents with congenital upper extremity conditions compared with the normal pediatric population based on PODCI scores. In contrast, the perceived upper extremity and global function was significantly decreased in patients with congenital differences compared with normal individuals. This investigation also revealed that the extent of upper extremity involvement, lower extremity involvement, family history, and syndromic association may affect PODCI scores as independent variables and should be taken into consideration in studies of upper extremity

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

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Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

2015-07-01

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Study on the progression of congenital scoliosis and the experimental production of the congenital scoliosis induced by /sup 60/Co irradiation in rats

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Noda, Y [Tokushima Univ. (Japan). School of Medicine

1977-08-01

In order to clarify the pathological mechanism of the development of congenital spinal deformities, seventy six cases with congenital spinal deformity were analysed clinically, and vertebral anomalies were produced experimentally in rats of the Wistar strain by giving /sup 60/Co irradiation (200 R) to the mother in the ninth, tenth and eleventh days of the pregnancy. The congenital vertebral anomalies were classified embryologically into the following eight groups, (1) Wedge vertebra, (2) Fused wedge vertebra, (3) Hemivertebra, (4) Fused hemivertebra, (5) Unilateral segmental failure, (6) Bilateral segmental failure, (7) Butterfly vertebra and (8) Mixed type. Out of these anomalies, the unilateral segmental failure and the imbalanced multiple hemivertebrae and wedge vertebrae proved to show a marked development of the scoliotic deformities. Vertebral anomalies were confirmed in 26 of the 101 newborn infants whose mothers were treated with /sup 60/Co irradiation in the 10th or 11th day of the pregnancy. The vertebral anomalies were either unilateral segmental failure or butterfly vertebrae located mostly at the lower thoracic, lumbar or sacral spine. A scoliotic deformity of the spine developed during the rapid growth of the body in all rats with unilateral segmental failure. From the histological examinations, it was revealed that the asymmetrical potency of the growth in the malformed vertebra was a factor causing the spinal deformities.

Skeletal deformities associated with nutritional congenital rickets in newborn lambs.

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Dittmer, K E; Morley, R E; Smith, R L

2017-01-01

A group of 545 pregnant rising 2-year-old Coopdale ewes on a Southland sheep farm were grazed over winter on a fodder beet (Beta vulgaris) crop. Subsequently, 45 out of approximately 750 lambs were born with a variety of skeletal deformities, including shortened limbs, varus and valgus angular limb deformities, palmar grade stance and cranial bowing of the carpus. Analysis of the crop showed the fodder beet contained a low percentage of phosphorus. In addition, 60 out of 460 rising 2-year-old ewes that had been grazed on the fodder beet crop as 1-year-olds had incisor abnormalities and malocclusion. Two affected lambs (1-day-old and 3-days-old) with representative clinical signs examined postmortem were found to have markedly enlarged costochondral junctions, and noticeably enlarged long bone metaphyses. In addition, one lamb had a dense band of metaphyseal sclerosis beneath the physes of all long bones examined. Histopathological findings included small islands and columns of chondrocytes and eosinophilic cartilage matrix present in the metaphysis. Metaphyseal trabeculae were disorganised and often lined by accumulations of pale pink osteoid; similar pale pink osteoid was also present in the cortices. Unerupted molar teeth in the affected lambs lacked a layer of enamel, and the dentine was irregular with globular basophilia. The gross and histopathological lesions were consistent with a diagnosis of rickets. Nutritional congenital rickets has not been previously diagnosed in sheep, but is a recognised disease of human infants with vitamin D deficient mothers. The rickets in affected lambs was most likely associated with phosphorus deficiency as a result of the pregnant ewes grazing fodder beet during gestation. While vitamin D deficiency was not definitively ruled out in these cases, practitioners are alerted to the possible effects of feeding phosphorus-deficient fodder beet to ewes for long periods during gestation and to 1-year-old sheep during important growth

Characteristics Of Congenital Chest Wall Deformities In Referred Patients To Tehran Imam Khomeini And Kashan Shahid Beheshti Hospital During 1991-2001

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Davoodabadi A

2004-08-01

Full Text Available Background: Infants and children present with a wide range of congenital chest wall deformities which have both physiologic psychologic consequences and are often associated with other abnormalities. Surgical intervention offers excellent cosmetic results with minimal morbidity and mortality. In order to investigation of chest wall deformities, and surgical results, this study was performed. Materials and Methods: A descriptive study on existing data on 60 consecutive patients with chest wall deformity during 10 years carried out. Patient's characteristics such as age, gender, signs and symptoms type of operation, associated disorder, syndrome, and surgical complications were considered. Results: Pectus excavatum 60% and pectus carinatum 30% Poland syn 6.7% 9 sternal cleft 3.2. Inpectus, M/F: Was 3/1 and others were 1:1. Age of admission 4 to 27 years 13.4±6.82 and association syndromes were, turner, Morgue and marfan, most patients were operated in delayed time (75 and hence, scoliosis was common than others. Conclusion: Pectus excavatum was the most common deformity and if scoliosis was prominent and most operation was done in old age but surgical result was excellent no anyone expired and complication was a little. So we recommended that all of the chest deformities must be operated in anytime.

Treatment of congenital club foot with Ponseti method

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Agrawal R

2005-01-01

Full Text Available Introduction: Idiopathic congenital talipes equinovarus (Club Foot is a complex deformity that is difficult to correct. The goal of treatment is to reduce or eliminate its four components so that the patient has a functional, pain free, plantigrade foot, with good mobility and without calluses, and does not need to wear modified shoes. Material and Methods: We have treated 41 patients with 60 idiopathic clubfoot deformity using Ponseti method of management. The severity of foot deformity was assessed according to the grading system of Dimeglio et al. Results: The mean number of casts that were applied to obtain correction was six (range four to nine casts. Tenotomy was done in 58 feet. Fifty eight feet had good results.Two patients developed recurrence of the deformity due to non-compliance of the use of orthrotics. Conclusion: The Ponseti method is a safe and effective treatment for congenital idiopathic clubfoot and radically decreases the need for extensive corrective surgery. Non compliance with orthotics has been widely reported to be the main factor causing failure of the technique.

ANOPHTHALMIA: A NON-HERITABLE EYE DEFORMITY IN Oreochromis mossambicus

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D. Tave

1998-12-01

Full Text Available Seven male Oreochromis mossambicus with anophthalmia were found in a hatchery population. The deformity was not observed in either the Fl or F2 generations; consequently, it was a non-heritable congenital deformity.

Immediate improvement of motor function after epilepsy surgery in congenital hemiparesis.

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Pascoal, Tharick; Paglioli, Eliseu; Palmini, André; Menezes, Rafael; Staudt, Martin

2013-08-01

Hemispherectomy often leads to a loss of contralateral hand function. In some children with congenital hemiparesis, however, paretic hand function remains unchanged. An immediate improvement of hand function has never been reported. A 17-year-old boy with congenital hemiparesis and therapy-refractory seizures due to a large infarction in the territory of the middle cerebral artery underwent epilepsy surgery. Intraoperatively, electrical cortical stimulation of the affected hemisphere demonstrated preserved motor projections from the sensorimotor cortex to the (contralateral) paretic hand. A frontoparietal resection was performed, which included a complete disconnection of all motor projections originating in the sensorimotor cortex of the affected hemisphere. Surprisingly, the paretic hand showed a significant functional improvement immediately after the operation. This observation demonstrates that, in congenital hemiparesis, crossed motor projections from the affected hemisphere are not always beneficial, but can be dysfunctional, interfering with ipsilateral motor control over the paretic hand by the contralesional hemisphere. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

Rheumatoid arthritis and hand surgery

DEFF Research Database (Denmark)

Peretz, Anne Sofie Rosenborg; Madsen, Ole Rintek; Brogren, Elisabeth

2017-01-01

Rheumatoid arthritis results in characteristic deformities of the hand. Medical treatment has undergone a remarkable development. However, not all patients achieve remission or tolerate the treatment. Patients who suffer from deformities and persistent synovitis may be candidates for hand surgery...

Formation of social and household skills in children with hand defects.

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Klimon, Nataly; Koryukov, Alexander; Loseva, Nina; Starobina, Elena

2015-08-01

The aim of this study was to consider the peculiarities of forming social and household skills, and the criteria for their evaluation, as well as an assessment of functional capacity, in children with hand defects both before and after surgical treatment and rehabilitation courses using a system of games. We elaborated and implemented a program of social rehabilitation of preschool children with congenital and acquired hand defects for the development of their functional capabilities and the formation of social and household skills after surgical treatment and prosthetics using play therapy methods. As part of this work, 140 preschool children aged 3-7 years underwent social rehabilitation. Most of the children had congenital hand defects-122 children (87 %): 96 children (79 %) with ectrodactylia, adactylia, hypoplasia, aplasia, hand splitting, club hand, or partial gigantism; 26 children (21 %) with congenital syndactylism and constricted bonds and 18 children (13 %) with acquired defects (burn deformity, amputation). 110 children (79 %) had reached the stage of surgical correction; 30 children (21 %) reached the stage of prosthetics. Most of the children participating in the experiment (78 children, 56 %) had defects of fingers on one hand. The program aimed at solving specific rehabilitation tasks: formation and improvement of all possible types of grip under the existing defect including those after surgery and prosthetics; development of tactile sensations in fingers; development of fine motor skills; increase in range of motion in all joints of the damaged hand; development of attention and concentration; formation of social and household skills appropriate to age; and development of the ability to achieve the set task. Analysis of the level of social and household skills of children with hand defects undergoing rehabilitation treatment at the hospital depending on the age prior to medical and social rehabilitation showed that preschool children with

The severity of the articular deformities of the hands depending on the seropositivity in rheumatoid arthritis

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Oprea Doiniţa

2017-11-01

Full Text Available Background. Rheumatoid arthritis (RA, met in the literature also as chronic evolving polyarthritis, is a chronic inflammatory disease, which typically involves the small and medium joints, with a symmetric distribution. Clinical studies shown that a proportion of patients with RA, without measurable rheumatoid factors are a distinct entity from those patients with seropositive RA. Around one third of patients with RA are seronegative for those two serological markers, the rheumatoid factors (RF and anti-citrullinated peptide antibodies (Anti-CCP. Hands are the most frequently affected in both seropositive and seronegative RA and the first joints involved in the inflammatory process are the metacarpo-phalangeal joints, IFP joints and the radiocarpian joint. The big joints become later symptomatic, after the small joints are affected. Materials and methods: 66 patients files and the personal records of the patients consecutively admitted in the Rheumatology Department of the Clinical Emergency County Hospital Constanta. Patients from county Constanta were included in the study, with diagnosis of rheumatoid arthritis (diagnosis confirmed at least 2 years ago, including both forms (seropositive and seronegative of the disease. The complete clinical exam was done for the patients included in the study, following the identification of the active joint disease. The mechanical status of the joint was observed by a single evaluator for each of those 66 patients with RA, with special focus on the presence of the deformities / ankyloses of the hands joints. Therefore, there were evaluated: the mobility (the number of the joints with limited movements, deformities, ankyloses (the number of the joints without mobility. The joint mobility was assessed by counting the hand joints with limited movements and the worsening of the prehension function. The presence of the following hand deformities was followed: fingers in “swan neck”, “fusiform fingers�

Congenital cytomegalovirus infection

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Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Bilateral carpal valgus deformity in hand-reared cheetah cubs (Acinonyx jubatus).

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Bell, Katherine M; van Zyl, Malan; Ugarte, Claudia E; Hartman, Angela

2011-01-01

Four hand-reared cheetah cubs (Acinonyx jubatus) exhibited progressively severe bilateral valgus deformity of the carpi (CV) during the weaning period. Radiographs of the thoracic limbs suggested normal bone ossification, and serum chemistry was unremarkable. All affected cubs developed CV shortly after the onset of gastroenteritis, which was treated medically, and included use of a prescription diet. A sudden decrease in growth rate was associated with gastrointestinal disease. Before gastroenteritis and CV, affected cubs had higher growth rates than unaffected cubs, despite similar mean daily energy intake. Return to normal thoracic limb conformation was consequent to dietary manipulation (including a reduction in energy intake and vitamin and mineral supplementation), as well as decreased growth rates and recovery from gastroenteritis. The cause of the CV is likely to have been multi-factorial with potentially complex physiological interactions involved. © 2010 Wiley-Liss, Inc.

Long-term psychological functioning of adults with severe congenital facial disfigurement.

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Versnel, Sarah L; Plomp, Raul G; Passchier, Jan; Duivenvoorden, Hugo J; Mathijssen, Irene M J

2012-01-01

In adults with severe congenital facial disfigurement, assessment of long-term psychological impact remains limited. This study determines the long-term psychological functioning in these patients and evaluates differences compared with patients with acquired facial disfigurement and a non-facially disfigured reference group. Also explored is the extent to which psychological functioning of the congenital group is related to satisfaction with facial appearance, fear of negative appearance evaluation by others, self-esteem, and severity of the facial deformity. Fifty-nine adults with severe congenital facial disfigurement, 59 adults with a traumatically acquired facial deformity in adulthood, and 120 non-facially disfigured adults completed standardized psychological, physical, and demographic questionnaires, including the Fear of Negative Appearance Evaluation Scale, the Rosenberg Self-Esteem Scale, the Hospital Anxiety and Depression Scale, the Achenbach Adult Self-Report, the 36-Item Short-Form Health Survey, and a visual analogue scale. Adults with severe congenital facial disfigurement had relatively normal psychological functioning but appeared more prone to internalizing problems than the non-facially disfigured adults. Compared with patients with an acquired facial deformity, the congenital group displayed fewer problems on the physical component score of quality of life only. Satisfaction with facial appearance, fear of negative appearance evaluation, and self-esteem were good predictors of the different aspects of psychological functioning, with the exception of the physical component score of quality of life. Improving satisfaction with facial appearance (by surgery), enhancing self-esteem, or lowering fear of negative appearance evaluation (by psychological support) may enhance long-term psychological functioning. Future research should focus on the individual patient and risk factors for maladjustment. Risk, II.

The "boomerang" malleus-incus complex in congenital aural atresia.

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Mukherjee, S; Kesser, B W; Raghavan, P

2014-01-01

"Boomerang" malleus-incus fusion deformity is identified on axial high-resolution CT in a subset of patients with congenital aural atresia, and it is associated with an absent incudostapedial joint and stapes capitulum and attachment of the incus to the tympanic segment of the facial nerve canal. Twelve patients with this deformity were identified on a retrospective review of imaging from a cohort of 673 patients with congenital aural atresia, with surgical confirmation in 9 of these patients. Eight of 9 patients underwent partial ossicular replacement prosthesis reconstruction with improvement in hearing outcome. We hypothesize that the boomerang anomaly represents a more severe ossicular anomaly than is normally seen in congenital aural atresia, arising from an arrest earlier in the embryonic development of the first and second branchial arch. This has potentially important implications for surgical planning because hearing outcomes with placement of prosthesis may not be as good as with conventional atresia surgery, in which reconstruction is performed with the patient's native ossicular chain. © 2014 by American Journal of Neuroradiology.

CORRECTIVE SURGERY IN CONGENITAL TALIPES EQUINOVARUS DEFORMITY: A CAMP APPROACH

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Antony R.

2015-09-01

Full Text Available The study was intended to assess the results of soft tissue release and bony corrective surgery in patients of moderate to severe deformed rigid club foot (CTEV and neglected clubfoot (CTEV at free disabled surgical camps at Chhattisgarh state . MATERIAL AND METHODS : In our study 50 patients were included with 70% male and 30% female with 4 - 16 years of age grou p and 70% unilateral and 30% bilateral foot involvement. Patients were admitted and operated in different free disabled surgical camps at Chhattisgarh state over the period of 36 months (1 may 2004 to 30 th April 2007. Improvement in functional ability and locomotion of all operated patients were assessed by physical and clinical examination. RESULTS : All patients who were operated in our study showed significant improvement in functional ability and locomotion after surgery. All patients were maintaining f unctional ability at follow up duration of 12 months (1 year. 75% patients were walking normally, 10% cases were walking with internal rotation of leg and 5% cases were walking with midtarsal varus foot with AFO with medial bar support. CONCLUSION : Our st udy showed and established that excellent results can be obtained in congenital talipes equinovarus (CTEV patients by soft tissue release with bony corrective surgery. The team work of devoted surgeons, paramedical and rehabilitation staff in whole durati on of camps to achieve the goal. With an aim to help more number of CTEV cases by surgery, our team has started doing surgeries in small institutions, and organize charity camps to help poor patients and mankind even in small clinics

Lessons learned from study of congenital hip disease in adults

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Hartofilakidis, George; Lampropoulou-Adamidou, Kalliopi

2016-01-01

Orthopaedic surgeons specialising in adult hip reconstruction surgery often face the problem of osteoarthritis secondary to congenital hip disease (CHD). To achieve better communication among physicians, better treatment planning and evaluation of the results of various treatment options, an agreed terminology is needed to describe the entire pathology. Furthermore, a generally accepted classification of the deformities is necessary. Herein, the authors propose the use of the term ?congenital...

Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula

International Nuclear Information System (INIS)

Teo, Harvey E.L.; Peh, Wilfred C.G.; Akhilesh, M.; Tan, S.B.; Ishida, T.

2007-01-01

The association between congenital pseudoarthrosis and osteofibrous dysplasia of the tibia and fibula is a rare entity that has been recently recognized. We report a male newborn who was found to have swelling and deformity of the left lower leg. Radiographs and magnetic resonance imaging showed an extensive destructive lesion of the tibial shaft, with dysplastic congenital pseudoarthrosis of the lower fibula. Histopathologial examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity. (orig.)

A Hands-on Physical Analog Demonstration of Real-Time Volcano Deformation Monitoring with GNSS/GPS

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Jones, J. R.; Schobelock, J.; Nguyen, T. T.; Rajaonarison, T. A.; Malloy, S.; Njinju, E. A.; Guerra, L.; Stamps, D. S.; Glesener, G. B.

2017-12-01

Teaching about volcano deformation and how scientists study these processes using GNSS/GPS may present some challenge since the volcanoes and/or GNSS/GPS equipment are not quite accessible to most teachers. Educators and curriculum materials specialists have developed and shared a number of activities and demonstrations to help students visualize volcanic processes and ways scientist use GNSS/GPS in their research. From resources provided by MEDL (the Modeling and Educational Demonstrations Laboratory) in the Department of Geosciences at Virginia Tech, we combined multiple materials and techniques from these previous works to produce a hands-on physical analog model from which students can learn about GNSS/GPS studies of volcano deformation. The model functions as both a qualitative and quantitative learning tool with good analogical affordances. In our presentation, we will describe multiple ways of teaching with the model, what kinds of materials can be used to build it, and ways we think the model could be enhanced with the addition of Vernier sensors for data collection.

Congenital and perinatal cytomegalovirus infection

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Chun Soo Kim

2010-01-01

Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

Multislice spiral computed tomography imaging in congenital inner ear malformations.

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Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

2008-01-01

The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

Evaluation of congenital heart disease by magnetic resonance imaging

International Nuclear Information System (INIS)

Roos, A. de; Roest, A.A.W.

2000-01-01

Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

Techniques for small-bone lengthening in congenital anomalies of the hand and foot.

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Minguella, J; Cabrera, M; Escolá, J

2001-10-01

The purpose of this study is to analyse three different lengthening techniques used in 31 small bones for congenital malformations of the hand and foot: 15 metacarpals, 12 metatarsals, 1 foot stump and 3 spaces between a previously transplanted phalanx end of the carpus or the metacarpal. Progressive lengthening with an external fixator device was performed in 23 cases: the callus distraction (callotasis) technique was used in 15 cases, whereas in the other 8 cases the speed of lengthening was faster and the defect bridged with a bone graft as a second stage. In another eight cases, a one-stage lengthening was performed. In the callotasis group, the total length gained ranged from 9 mm to 30 mm and the percentage of lengthening obtained (compared with the initial bone length) averaged 53.4%; in the fast lengthening group, the length gained ranged from 8 mm to 15 mm, and the average percentage of lengthening was 53.1%; and in the one-stage group, the length gained ranged from 7 mm to 15 mm, and the average percentage of lengthening was 43%. The overall complication rate was 22.5%.

Congenital Double Lip: A Rare Deformity Treated Surgically

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Aggarwal, Titiksha; Chawla, Kirti; Lamba, Arundeep Kaur; Faraz, Farukh; Tandon, Shruti

2016-01-01

Lip is an important aspect of facial features affecting ones personality. A deformity of the lip characterized by excessive tissue sagging below the usual giving it thicker wider appearance is referred to as double lip. It is a rare occurrence with a proposed male predilection. This article is a report of a 20 years old male with this deformity who presented with the complaint of difficult speech and poor aesthetics. There was no other history patient being systemically healthy. It was successively treated with a simple surgical technique without recurrence over a period of 12 months. PMID:27853696

Distribution of congenital anomalies in a neonatal intensive care unit in Turkey.

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Dursun, Arzu; Zenciroglu, Ayşegul; Hakan, Nilay; Karadag, Nilgun; Karagol, Belma Saygili; Aydin, Banu; Dilli, Dilek; Okumus, Nurullah; Beken, Serdar

2014-07-01

Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey. A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies. A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA. In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.

Dual Pathology Causing Congenital Bladder Outlet Obstruction.

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Kwong, Ruth; Johal, Navroop S; Upasani, Anand; Paul, Anu; Cuckow, Peter

2017-12-07

Anterior urethral syringocele is an uncommon congenital deformity characterised by cystic dilatation of bulbo-urethral gland ducts and is usually asymptomatic. We present a case on 4-day-old male neonate who presented with bilateral antenatal hydroureteronephrosis and renal impairment and found to have urethral syringocele and posterior urethral valves (PUV). Copyright © 2017. Published by Elsevier Inc.

Avoiding unfavorable results in postburn contracture hand

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Bhattacharya, Sameek

2013-01-01

Deformities of the hands are a fairly common sequel of burn especially in the developing world. This is because of high incidence of burns, limited access to standard treatment and rehabilitation. The best outcome of a burnt hand is when deformities are prevented from developing. A good functional result is possible when due consideration is paid to hands during resuscitation, excisional surgery, reconstructive surgery and physiotherapy. The post-burns deformities of hand develop due direct thermal damage or secondary to intrinsic minus position due to oedema or vascular insufficiency. During the acute phase the concerns are, maintenance circulation minimize oedema prevent unphysiological positioning and wound closure with autogenous tissue as soon as possible. The rehabilitation program during the acute phase starts from day one and goes on till the hand has healed and has regained full range of motion. Full blown hand contractures are challenging to correct and become more difficult as time passes. Long-standing cases often land up with attenuation of extensor apparatus leading to swan neck and boutonniere deformity, muscle shortening and bony ankylosis. The major and most common pitfall after contracture release is relapse. The treatment protocol of contracture is solely directed towards countering this tendency. This article aims to guide a surgeon in obtaining optimal hand function and avoid pit falls at different stages of management of hand burns. The reasons of an unfavourable outcome of a burnt hand are possible lack of optimal care in the acute phase, while planning and performing reconstructive procedure and during aftercare and rehabilitation. PMID:24501479

Congenital Complete Tracheal Ring in a Neonate: A Case Report

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Esra ARUN ÖZER

2017-09-01

Full Text Available Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

Outcome and safety analysis of 3D printed patient specific pedicle screw jigs for complex spinal deformities: A comparative study.

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Garg, Bhavuk; Gupta, Manish; Singh, Menaka; Kalyanasundaram, Dinesh

2018-05-03

Spinal deformities are very challenging to treat and have a great risk of neurological complications due to hardware placement during corrective surgery. Various techniques have been introduced to ensure safe and accurate placement of pedicle screws. Patient-specific screw guides with pre-drawn and pre-validated trajectory seems to be an attractive option. We have focused on developing 3D printing technique for complex spinal deformities in India. This study also aimed to compare the placement of pedicle screw with 3D printing and free hand technique. This is a retrospective comparative clinical study at an academic institutional setting. A total of 20 patients were enrolled during the study, 10 were operated with the help of 3D printing (group 1) and 10 were operated with freehand technique (group 2). Group 1 included 6 congenital, 3 adolescent idiopathic scoliosis (AIS), one post tubercular kyphosis and Group 2 included 5 congenital, 4 AIS and one post tubercular kyphosis patient. Primary outcomes were measured in terms of screw violation and secondary outcome were measured in terms of Surgical time, Blood loss, Radiation exposure (no. of shoots required) and complications. MIMICS v18.0 Software was used for 3D reconstruction from CT scan images of all the patients. 3-Matic software was used to create drill guide. 3-D printer from Stratasys Mojo ABS P 430 model material cartilage (a thermoplastic material) was used for printing of vertebrae model and jigs. Two sample test of proportion was used to compare correctly and wrongly pedicle screw placement with 3D printing and freehand technique. T-test with equal variance was used for operating surgical time and blood loss. This work was carried out by collaboration of Orthopaedics Department, All India Institute of Medical Sciences (AIIMS), New Delhi and Biomedical Engineering Department, Indian Institute of Technology (IIT) Delhi. This project received the grant of USD 60000 from Department of Biotechnology (DBT

Precision grip in congenital and acquired hemiparesis: similarities in impairments and implications for neurorehabilitation - review

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Yannick eBleyenheuft

2014-06-01

Full Text Available Background: Patients with congenital and acquired hemiparesis incur long-term functional deficits, among which the loss of prehension that may impact their functional independence. Identifying, understanding and comparing the underlying mechanisms of prehension impairments represent an opportunity to better adapt neurorehabilitationObjective: The present review aims to provide a better understanding of precision grip deficits in congenital and acquired hemiparesis and to determine whether the severity and type of fine motor control impairments depend on whether or not the lesions are congenital or acquired in adulthood. Methods: Using combinations of the following key words: fingertip force, grip force, precision grip, cerebral palsy, stroke, pubmed and Scopus databases were used to search studies from 1984 to 2013. Results: Individuals with both congenital and acquired hemiparesis were able to some extent to use anticipatory motor control in precision grip tasks, even if this control was impaired in the paretic hand. In both congenital or acquired hemiparesis, the ability to plan efficient anticipatory motor control when the less-affected hand is used provides a possibility to remediate impairments in anticipatory motor control of the paretic hand. Conclusion: Surprisingly we observed very few differences between the results of studies in children with congenital hemiplegia and stroke patients. We suggest that the underlying specific strategies of neurorehabilitation developed for each one could benefit the other.

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

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Ali, Ahmed Ali Abdelrahim

2018-01-01

Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.

Upper limb congenital muscular hypertrophy and aberrant muscle syndrome in children.

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Dahan, Emmanuel; Chaves, Camilo; Bachy, Manon; Fitoussi, Frank

2018-01-01

Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture. Treatment begins in young children with hand orthoses to limit muscle contraction and joint malposition. The purpose of surgical treatment was to release contractures and to restore muscle balance through, in the main, finger intrinsic releases and first web releases. At the 2-year follow-up, we found that limited surgical procedures improved finger, thumb and wrist positions. We conclude that muscle hypertrophy is the main cause of deformity and that selective releases of contracted musculo-tendinous units and skin lengthening are effective. IV.

Audiotactile integration is reduced in congenital blindness in a spatial ventriloquism task.

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Occelli, Valeria; Bruns, Patrick; Zampini, Massimiliano; Röder, Brigitte

2012-01-01

In the ventriloquism effect, the presentation of spatially discrepant visual information biases the localization of simultaneously presented sounds. Recently, an analogous spatial influence of touch on audition has been observed. By manipulating hand posture, it has been demonstrated that this audiotactile ventriloquist effect predominantly operates in an external frame of reference. In the present study, we examined the contribution of developmental vision to audiotactile interactions as indicated by the ventriloquism effect. Congenitally blind, late blind and sighted adults were asked to report the perceived location of sounds presented from a left, a central or a right location. Auditory stimuli were either delivered alone or concurrently with touches at the left or the right hand. The hands were located to the right and to the left of the lateral speakers and participants either adopted an uncrossed or a crossed hand posture. While sighted controls and late blind participants similarly mislocalized auditory stimuli toward the concurrent tactile stimuli in bimodal trials, the congenitally blind showed a reduced ventriloquism effect. All groups showed a reduced audiotactile ventriloquism effect in the crossed hand condition. However, the magnitude of the reduction was significantly larger in the group of congenitally blind than in the group of sighted controls. These results suggest reduced audio-tactile interactions in spatial processing following a lack of visual input from birth. Copyright © 2011 Elsevier Ltd. All rights reserved.

[Congenital intestinal lymphangiectasia].

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Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

2011-03-01

Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, 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. 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 supportive therapy. 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.

Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

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Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

2016-08-01

Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

Mondini defect in association with multiple congenital anomalies.

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Sekhar, H K; Sachs, M

1976-01-01

A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

Pointing with the Left and Right Hands in Congenitally Blind Children

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Ittyerah, Miriam; Gaunet, Florence; Rossetti, Yves

2007-01-01

Congenitally blind and blindfolded sighted children at ages of 6, 8, 10 and 12 years performed a pointing task with their left and right index fingers at an array of three targets on a touch screen to immediate (0 s) and delayed (4 s) instructions. Accuracy was greater for immediate than delayed pointing and there was an effect of delay for the…

Congenital intestinal lymphangiectasia

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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.

[10 congenital trigger fingers. Apropos of a case report].

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Moutet, F; Lebrun, C; Sartorius, C

1987-01-01

Ten congenital triggers fingers have been treated on a 3 years old girl after correction of congenital bilateral club feet. Such a case, without any other congenital malformation seems to be unique in the French literature and only found twice in the English one. This child in spite of a normal growth and good psychomotor development, presents an unusual face, with a mouth a little bit too small, but her karyotype is normal. No trismus and no microstomia were found to enable this case to be classified in a specific syndrome. The right diagnosis may be a non evolutive arthrogryposis of the extremities. Dividing the ten proximal pulleys (A1) let 10 voluminous nodules pass through and allowed full range of motion in nine out of ten fingers. A remaining flexion deformity of the proximal interphalangeal joint needed an anterior arthrolysis, the final result was good.

Unusual case of cleft hand

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Sahasrabudhe Parag

2007-01-01

Full Text Available We present a case of a six-year-old male child with cleft hand deformity involving the dominant right hand. It was a rare case of atypical cleft hand with no missing tissue but cleft extending to metacarpal level and associated hypoplasia of thumb and index finger. As per Manske′s classification of cleft hand our patient belongs to the Class III variety. There was associated malposition of the index finger with absence of first web space and syndactly of thumb and index finger at the metacarpal level. A modified Snow-Littler procedure was planned. The surgical plan involved closure of cleft, release of thumb and index finger syndactly and reconstruction of the first web space. The functional outcome was good considering hypoplasia of the index finger and thumb. Depending upon the function of the thumb tendon transfers can be planned to augment thumb function at a later date along with correction of rotational deformities of the index and middle finger.

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

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David Neubauer

2001-07-01

Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

New Technologies for Surgery of the Congenital Cardiac Defect

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David Kalfa

2013-07-01

Full Text Available The surgical repair of complex congenital heart defects frequently requires additional tissue in various forms, such as patches, conduits, and valves. These devices often require replacement over a patient’s lifetime because of degeneration, calcification, or lack of growth. The main new technologies in congenital cardiac surgery aim at, on the one hand, avoiding such reoperations and, on the other hand, improving long-term outcomes of devices used to repair or replace diseased structural malformations. These technologies are: 1 new patches: CorMatrix® patches made of decellularized porcine small intestinal submucosa extracellular matrix; 2 new devices: the Melody® valve (for percutaneous pulmonary valve implantation and tissue-engineered valved conduits (either decellularized scaffolds or polymeric scaffolds; and 3 new emerging fields, such as antenatal corrective cardiac surgery or robotically assisted congenital cardiac surgical procedures. These new technologies for structural malformation surgery are still in their infancy but certainly present great promise for the future. But the translation of these emerging technologies to routine health care and public health policy will also largely depend on economic considerations, value judgments, and political factors.

Cytomegalovirus Survival and Transferability and the Effectiveness of Common Hand-Washing Agents against Cytomegalovirus on Live Human Hands

OpenAIRE

Stowell, Jennifer D.; Forlin-Passoni, Daniela; Radford, Kay; Bate, Sheri L.; Dollard, Sheila C.; Bialek, Stephanie R.; Cannon, Michael J.; Schmid, D. Scott

2014-01-01

Congenital cytomegalovirus (CMV) transmission can occur when women acquire CMV while pregnant. Infection control guidelines may reduce risk for transmission. We studied the duration of CMV survival after application of bacteria to the hands and after transfer from the hands to surfaces and the effectiveness of cleansing with water, regular and antibacterial soaps, sanitizer, and diaper wipes. Experiments used CMV AD169 in saliva at initial titers of 1 × 105 infectious particles/ml. Samples fr...

Bilateral implant-retained auricular prosthesis for a patient with congenitally missing ears. A clinical report.

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Kumar, Preeti Satheesh; Satheesh Kumar, K S; Savadi, Ravindra C

2012-06-01

Microtia is a major congenital anomaly of the external ear. It includes a spectrum of deformities from a grossly normal but small ear to the absence of the entire external ear. These deformities account for three in every 10,000 births, with bilaterally missing ears seen in fewer than 10% of all cases. Congenital abnormalities of the ear are unlikely to result in the complete absence of the ears, but the patient presented in this article had bilateral congenitally missing ears. There was loss of anatomic landmarks and alteration of normal bony architecture. Minimal tissue was available for retention; therefore, conventional techniques could not be used for achieving retention. A two-implant-supported auricular prosthesis was planned, but the patient was found to have deficient bone in the implant site. Hence the implants were placed posterior to these sites, and the superstructure was modified to accommodate for this change in position of the implant to ensure the esthetic positioning of the prosthesis. © 2012 by the American College of Prosthodontists.

Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: a case-referent study.

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Versnel, S L; Duivenvoorden, H J; Passchier, J; Mathijssen, I M J

2010-10-01

Patients with severe congenital facial disfigurement have a long track record of operations and hospital visits by the time they are 18 years old. The fact that their facial deformity is congenital may have an impact on how satisfied these patients are with their appearance. This study evaluated the level of satisfaction with facial appearance of congenital and of acquired facially disfigured adults, and explored demographic, physical and psychological determinants of this satisfaction. Differences compared with non-disfigured adults were examined. Fifty-nine adults with a rare facial cleft, 59 adults with a facial deformity traumatically acquired in adulthood, and a reference group of 201 non-disfigured adults completed standardised demographic, physical and psychological questionnaires. The congenital and acquired groups did not differ significantly in the level of satisfaction with facial appearance, but both were significantly less satisfied than the reference group. In facially disfigured adults, level of education, number of affected facial parts and facial function were determinants of the level of satisfaction. High fear of negative appearance evaluation by others (FNAE) and low self-esteem (SE) were strong psychological determinants. Although FNAE was higher in both patient groups, SE was similar in all three groups. Satisfaction with facial appearance of individuals with a congenital or acquired facial deformity is similar and will seldom reach the level of satisfaction of non-disfigured persons. A combination of surgical correction (with attention for facial profile and restoring facial functions) and psychological help (to increase SE and lower FNAE) may improve patient satisfaction. Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Systematics of triaxial deformation in Xe, Ba, and Ce nuclei

International Nuclear Information System (INIS)

Yan, J.; Vogel, O.; von Brentano, P.; Gelberg, A.

1993-01-01

The (β,γ) deformation parameters of even-even Xe, Ba, and Ce nuclei have been calculated by using the triaxial rotor model. Deformation parameters calculated, on one hand, from decay properties and, on the other hand, from energies are in good agreement. The smooth dependence of the deformation parameters on Z and N is discussed. The results are compared with those extracted from properties of odd-A nuclei

The use of expanded polytetrafluoroethylene in depressed deformities of the face.

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Liu, Xiaowei; Zhang, Yiming; Wang, Shaoliang; Lei, Zeyuan; Li, Xiang; Fan, Dongli

2016-11-01

Expanded polytetrafluoroethylene (ePTFE) has been extensively used for facial soft tissue augmentation procedures, and is regarded as safe and reliable and suitable as a permanent implant. This implant is generally used in the lower third of the face for lips filling, nasal augmentation, nasolabial folds and chin augmentation, and rarely for congenital or acquired depressed deformities of the face. The aim of the present study was to assess the effects of ePTFE in congenital or acquired depressed deformities of the face. From September, 2008 to January, 2014, 26 patients were implanted with the material ePTFE to correct depressed deformities of the face. The average age at operation was 23.2 years, with a range of 17-45 years. The depressed deformities were lateralized. The follow-up period was 6-18 months (average 9 months). The etiologies of the depressed deformities included stable hemifacial atrophy (3 cases), craniofacial microsomia (13 cases), bony depression after trauma (8 cases), and other unclear reasons (2 cases). The operations were performed under local anesthesia. ePTFE was inserted in different tissue planes that varied among the different subanatomical areas in the face: beneath the superficial temporal fascia in the temporal area, and on the surface of the superficial musculoaponeurotic system in the zygomatic area, cheek and mandibular area. All of the patients were followed up. Most of the patients [25 of 26 patients (96.2%)] were satisfied with the results, while 1 patient (3.8%) was not satisfied for incomplete correction of the depressed deformity. In conclusion, aside from lipofilling and a free flap transfer, the results showed that ePTFE was an alternative treatment for facial depressed deformity.

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

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van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

2012-02-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

Congenital anomalies of the spine: radiologic findings

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Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

2003-04-01

Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

[Clinical analysis of 102 patients with congenital inner ear malformation].

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Zhu, X; Lian, N; Cai, Z

1995-01-01

Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

Rare causes of scoliosis and spine deformity: experience and particular features

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Pliarchopoulou Fani M

2007-10-01

Full Text Available Abstract Background Spine deformity can be idiopathic (more than 80% of cases, neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. Methods A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002. The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case. Results In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia, muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness. Nine of these patients were surgically treated. Surgery was avoided in 3 patients. Conclusion This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.

Congenital Malformations Associated with the Administration of Oral Anticoagulants During Pregnancy

Science.gov (United States)

Pettifor, J. M.; Benson, R.

1975-01-01

Reported are case histories of three infants with congenital malformations (including defective formation of the nose and hands) associated with ingestion of oral anticoagulants during the first trimester of pregnancy. (CL)

Bilateral congenital deficiency of tibia: a case report.

Science.gov (United States)

Sharma, Vijai; Yadav, Ganesh; Gupta, Anil Kumar; Kumar, Dileep

2014-01-01

Tibial hemimelia/amelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. They can be identified as an isolated disorder or as part of malformation syndromes. This presentation expands the spectrum of tibial hemimelia characterizing its great clinical and radiological variability. A five year old female child, born to unaffected and non-consanguineous parents, presented with deformity and shortening of both legs. There was no other structural anomaly except in both lower limbs. Radiological imaging showed absence of the tibia, angulation of fibula and tarsal coalition of right side. Femur was seen to be normal in both lower limbs while patella, tibia and talus were absent on left side along with 1st ray deficiency. Severe varus deformity was seen in both feet. The parents were not willing for corrective surgery, therefore extension prosthesis was devised. We report a case of tibial hemimelia as well as to suggest methods to manage and rehabilitate such patients. A congenital malformations surveillance and record system needs to be developed to identify the demographic parameters, etiology, risk factors and associations of all types of limb deficiencies. Need is felt of a classification system which includes broader spectrum of limb malformations.

Congenital club foot in a teaching hospital in Lagos, Nigeria.

Science.gov (United States)

Adewole, O A; Giwa, S O; Kayode, M O; Shoga, M O; Balogun, R A

2009-06-01

Congenital club foot has been sparsely reported in literature in Nigeria, although it has been reported as the commonest congenital musculoskeletal abnormality. This study enumerates the point prevalence of this disease in a university teaching hospital in Lagos. Better understanding of the epidemiology in our community should improve awareness, and influence management. Between June 2005 and July 2006, 72 consecutive patients with congenital club feet were seen in the orthopaedic clinic of our Hospital. Demographic data, birth weight, family history, birth facility, maternal age and associated congenital anomalies were recorded and analysed using Statistical Programme for Social Sciences (SPSS) version 15. A total of 72 patients were seen, 28 of whom had bilateral club feet resulting in a total of 100 feet. There were 38 males and 34 females. Only 29% presented in the first month of life and 28% in the second month. Maternal ages ranged between 19 and 38 years and no family history of congenital club foot was given,. Babies delivered outside the orthodox medical system (churches, traditional healers, home etc) constituted 28%. The commonest associated congenital anomalies were tibia hemimelia, hydrocephalus, inguinal hernia and umbilical hernia. A default rate of 28% was observed during treatment. Congenital club foot may not be uncommon in Nigeria. Late presentation and high default rate before correction of the deformity were observed. Establishment of special club foot clinics should reduce the default rate. Training of healthcare workers in maternity units as well as Public awareness should encourage early referral to specialists.

Left hand polydactyly: a case report.

Science.gov (United States)

Mumoli, Nicola; Gandini, Daniele; Wamala, Edris Kalanzi; Cei, Marco

2008-11-24

Polydactyly is a congenital anomaly with a wide range of manifestations that occurs in many forms, ranging from varying degrees of mere splitting to completely duplicated thumb. When duplication occurs alone, it is usually unilateral and sporadic. In this case report we describe an otherwise healthy 19-year-old woman of Tibetan heritage with isolated left hand preaxial polydactyly. She experienced working related difficulties in her daily yak's milking. She subsequently underwent surgical correction, and the over number thumb was removed with associated meticulous skeletal and soft tissue reconstruction. Polydactyly is the most common congenital digital anomaly of the hand and foot. It can occur in isolation or as part of a syndrome. Surgery is necessary to create a single, functioning thumb and is indicated to improve cosmesis. Skin, nail, bone, ligament, and musculoskeletal elements must be combined to reconstruct an optimal digit. In this case (Tibetan society is almost exclusively a sheep-breeding one) surgery was necessary to leave a single, functioning thumb for her work as yak milkmaid.

Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

International Nuclear Information System (INIS)

Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

2004-01-01

We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

Sirenomelia: A Rare Case of Foetal Congenital Anomaly

OpenAIRE

Dharmraj, Meena; Gaur, Sumitra

2012-01-01

Sirenomelia, alternatively known as ?mermaid syndrome? is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid?. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the fi...

Open resections for congenital lung malformations

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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.

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

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Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

2016-07-29

Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

Nucleus spectroscopy: extreme masses and deformations

International Nuclear Information System (INIS)

Theisen, Ch.

2009-12-01

The author proposes a synthesis of research activities performed since 1995 in the field of experimental nuclear physics, and more particularly in the investigation of two nucleus extreme states: deformation on the one hand, heavy and very heavy nuclei on the other hand. After a presentation of the context of investigations on deformation, rotation, and heavy nuclei, he gives an overview of developments regarding instruments (gamma spectrometers, detection of fission fragments, and detection at the focal plane of spectrometers or separators) and analysis techniques. Experiments and results are then reported and discussed, concerning super-deformed states with a high angular moment, spectroscopy of neutron-rich nuclei, very heavy nuclei close to nucleus map borders. He finally draws perspectives for middle and long term studies on the heaviest nuclei

Hand assessment with the E-Cone in rheumatoid arthritis and hand osteoarthritis

NARCIS (Netherlands)

van Merendonk, N.; van Alebeek, V.; Spreeuwers, Lieuwe Jan; Spreeuwers, D.; Kroon, P.J.; Roorda, L.; Dekker, J.; Hoeksma, A.F.

2013-01-01

Background: Rheumatoid arthritis (RA) is a systemic inflammatory, progressive disease resulting in deformities of the hand. Besides synovitis, tenosynovitis of the extrinsic flexor tendons is one of the initial features of RA, leading to friction and consequently to an imbalanced coordination of the

The use of polyurethane foam as an antimicrobial dressing material in hand surgery

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Nebil Yesiloglu

2015-12-01

Full Text Available Polyurethane foam is generally used in negative pressure-assisted wound closure therapy. It provides an antimicrobial environment around the wound, while reducing the rate of skin maceration. The authors used polyurethane foam in routine hand dressings after hand surgery operations that were performed for both congenital and acquired purposes. [Hand Microsurg 2015; 4(3.000: 91-92

A case of severe congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasia

International Nuclear Information System (INIS)

Geoffray, Anne; Leloutre, Beatrice; Albertario, Marco; Bechard-Sevette, Nancy; Clement, Jean-Luc

2008-01-01

A 9-month-old boy with congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasias is presented. This anomaly has rarely been described in the literature. Plain films showed absence of thoracic pedicles bilaterally from T2 to T9, which was better demonstrated on CT multiplanar and 3-D reformatted images. There were no neurological symptoms even though the deformity progressed rapidly. Congenital kyphosis or kyphoscoliosis is often related to spinal anomalies that are located on the anterior aspect of the vertebrae. However, posterior anomalies may also be responsible and should be recognized before neurological complications occur. (orig.)

[Diagnostic significance of multi-slice computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia

2005-04-01

To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity, 5 ears), vestibular and semicircular canal malformations( 14 ears), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.

Ponseti Casting Method in Idiopathic Congenital Clubfoot and Its Correlation with Radiographic Features Abstract

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Taghi Baghdadi

2017-05-01

Full Text Available Background: The aim of this study was to evaluate the idiopathic congenital clubfoot deformity treated by Ponseti method to determine the different factors such as radiological investigations that may have relations with the risk of failure and recurrence in mid-term follow-up of the patients. Methods: Since 2006 to 2011, 226 feet from 149 patients with idiopathic congenital clubfoot were treated with weekly castings by Ponseti method. Anteroposterior and lateral foot radiographies were performed at the final follow-up visit and the data from clinical and radiological outcomes were analysed. Results: In our patients, 191(84.9% feet required percutaneous tenotomy. The successful correction rate was 92% indication no need for further surgical correction. No significant correlation was found between the remained deformity rate and the severity of the deformity and compliance of using the brace (P=0.108 and 0.207 respectively. The remained deformity rate had an inverse association with the beginning age of treatment (P=0.049. No significant correlation was found between the percutaneous tetonomy and passive dorsiflexion range (P=0.356. Conclusion: According to our results treatment with the Ponseti method resulted in poor or no correlation. The diagnosis of clubfoot is a clinical judgment; therefore, the outcome of the treatment must only be clinically evaluated. Although the Ponseti method can retrieve the normal shape of the foot, it fails to treat the bone deformities and eventually leads to remained radiologic deformity. Further studiesare suggested to define a different modification that can address the abnormal angles between the foot and ankle bones to minimize the risk of recurrence.

Spinal fusion in patients with congenital heart disease. Predictors of outcome.

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Coran, D L; Rodgers, W B; Keane, J F; Hall, J E; Emans, J B

1999-07-01

The strong association between congenital heart disease and spinal deformity is well established, but data on the risks and outcome of spinal fusion surgery in patients with congenital heart disease are scarce. The purpose of this study was to identify predictors of perioperative risk and outcome in a large series of children and adolescents with congenital heart disease who underwent spinal fusion for scoliosis or kyphosis. In the authors' retrospective analysis of 74 consecutive patients with congenital heart disease undergoing spinal fusion, there were two deaths (2.7%) and 18 significant complications (24.3%) in the perioperative period. Preoperative cyanosis (arterial oxygen saturation < 90% at rest) with uncorrected or incompletely corrected congenital heart disease was associated with both deaths. Complications occurred in nine of 18 (50%) patients with cyanosis and in 11 of 56 (20%) patients without cyanosis. As judged by multivariate analysis the best predictors of perioperative outcome were the overall physical status of the patient as represented by the American Society of Anesthesiologists' preoperative score and a higher rate of intraoperative blood loss. Seventeen of 43 patients (40%) with an American Society of Anesthesiologists score of 3 or higher experienced complications including two perioperative deaths. Successful spinal fusion and correction were achieved in 97% of patients. Children and adolescents with congenital heart disease can undergo elective spinal fusion with risks that relate to overall cardiac status. Careful assessment of preoperative status by pediatric cardiologists and cardiac anesthesiologists familiar with surgical treatment of patients with congenital heart disease will assist the orthopaedic surgeon in providing the most realistic estimate of risk.

Amniotic Constriction Bands: Secondary Deformities and Their Treatments.

Science.gov (United States)

Drury, Benjamin T; Rayan, Ghazi M

2018-01-01

The purpose of this study was to report the surgical treatment experience of patients with amniotic constriction bands (ACB) over a 35-year interval and detail consequential limb deformities with emphasis on hands and upper extremities, along with the nature and frequency of their surgical treatment methods. Fifty-one patients were identified; 26 were males and 25 females. The total number of deformities was listed. The total number of operations, individual procedures, and operations plus procedures that were done for each patient and their frequency were recorded. The total number of operations was 117, and total number of procedures was 341. More procedures were performed on the upper extremity (85%) than the lower extremity (15%). Including the primary deformity ACB, 16 different hand deformities secondary to ACB were encountered. Sixteen different surgical methods for the upper extremity were utilized; a primary procedure for ACB and secondary reconstructions for all secondary deformities. Average age at the time of the first procedure was 9.3 months. The most common procedures performed, in order of frequency, were excision of ACB plus Z-plasty, release of partial syndactyly, release of fenestrated syndactyly, full-thickness skin grafts, resection of digital bony overgrowth from amputation stumps, and deepening of first and other digital web spaces. Many hand and upper extremity deformities secondary to ACB are encountered. Children with ACB may require more than one operation including multiple procedures. Numerous surgical methods of reconstruction for these children's secondary deformities are necessary in addition to the customary primary procedure of excision of ACB and Z-plasty.

[A nasal congenital malformation not published in the literature: About 5 cases].

Science.gov (United States)

Colson, T R; Bertrand, B; Degardin, N; Bardot, J; Casanova, D

2017-02-01

Five cases of the same congenital malformation of the nose, affecting the nasal dorsum and the supra-tip, were supported in our university plastic surgery center. This malformation has not been described in the literature known to the authors. The aim of this study is to analyze this nasal deformity. Five children presented this congenital deformity between 1994 and 2014. The patients were examined and the malformation precisely described. Genetic and histological examinations were carried on. The diagnosis and treatment of this pathology were discussed. This malformation associated 4 anomalies: hypertrophy of soft tissue of the dorsum located in the middle third of the nasal bridge, deformed alar cartilages turned back downward and outside, advanced support default and median skin brand similar to a scar. These patients showed no other abnormalities of the midline or respiratory disorders. No genetic disorder was found for these five patients, and no histological arguments were found. Three patients were operated, one until adulthood with a satisfying cosmetic result. Bibliographic research has not allowed us to make an accurate diagnosis of this malformation that appears to be non-syndromic and to have a genetic origin. Our therapeutic approach became more clear and it now seems legitimate to propose early excision of fat mass to prevent alar deformations, associated with a cortico-cancellous graft, which in our experience grows with age, to support the tip. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Congenital deformity of the paw in a captive tiger: case report

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Rahal Sheila C

2012-06-01

Full Text Available Abstract Background The aim of this report was to describe the clinical signs, diagnostic approach, treatment and outcome in the case of a tiger with a deformity of the paw. Case presentation A 1.5-year-old tiger (Panthera tigris was presented with lameness of the left thoracic limb. A deformity involving the first and second metacarpal bones, and a soft tissue separation between the second and third metacarpal bones of the left front paw were observed. The second digit constantly struck the ground during locomotion. Based on the physical and radiographic evaluations, a diagnosis of ectrodactyly was made. A soft tissue reconstruction of the cleft with excision of both the second digit and distal portion of the second metacarpal bone was performed. Marked improvement of the locomotion was observed after surgical treatment, although the tiger showed a low degree of lameness probably associated with the discrepancy in length between the thoracic limbs. Conclusion This report shows a rare deformity in an exotic feline that it is compatible to ectrodactyly. Reconstructive surgery of the cleft resulted in significant improvement of limb function.

Sirenomelia: a rare case of foetal congenital anomaly.

Science.gov (United States)

Dharmraj, Meena; Gaur, Sumitra

2012-10-01

Sirenomelia, alternatively known as 'mermaid syndrome' is a very rare congenital deformity in which the legs are fused together, giving them the appearance of the tail of a mermaid'. Other birth defects are always associated with sirenomelia, most commonly abnormalities of the kidneys, large intestines, and genitalia. The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios. We discuss the findings, relative to the present literature and related etiopathogenesis.

Meat Grinder Injury to the Hand: Serial Cases

OpenAIRE

Lubis, Nur Rachmat

2012-01-01

Introduction.Although meat grinder injury to the hand is not a common case, it causes a wide spectrum of injuries that result not only in tremendous physical and emotional pain but also substantial economic impact as well.Case presentation.Three cases of hand injury caused by meat grinders are presented. Two injuries involved non dominant hand and one involved dominant hand, result in varying degrees of deformity. All patients arrived in emergency room with injured hand still firmly...

Radiologic analysis of congenital limb anomalies

International Nuclear Information System (INIS)

Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

1994-01-01

Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

Lessons learned from study of congenital hip disease in adults.

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Hartofilakidis, George; Lampropoulou-Adamidou, Kalliopi

2016-12-18

Orthopaedic surgeons specialising in adult hip reconstruction surgery often face the problem of osteoarthritis secondary to congenital hip disease (CHD). To achieve better communication among physicians, better treatment planning and evaluation of the results of various treatment options, an agreed terminology is needed to describe the entire pathology. Furthermore, a generally accepted classification of the deformities is necessary. Herein, the authors propose the use of the term "congenital hip disease" and its classification as dysplasia, low dislocation and high dislocation. Knowledge of the CHD natural history facilitates comprehension of the potential development and progression of the disease, which differs among the aforementioned types. This can lead to better understanding of the anatomical abnormalities found in the different CHD types and thus facilitate preoperative planning and choice of the most appropriate management for adult patients. The basic principles for improved results of total hip replacement in patients with CHD, especially those with low and high dislocation, are: Wide exposure, restoration of the normal centre of rotation and the use of special techniques and implants for the reconstruction of the acetabulum and femur. Application of these principles during total hip replacement in young female patients born with severe deformities of the hip joint has led to radical improvement of their quality of life.

Orofacial manifestations of congenital hypothyroidism: Clinicoradiological case report

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Gundareddy N Suma

2014-01-01

Full Text Available Thyroid disorders have a widespread effect on the ossification of cartilage, growth of teeth, facial contour, and overall body proportions. Both growth hormones and thyroid hormones show permissive action on growth stimulation. Deregulation in thyroid homeostasis can result in various orofacial and skeletal abnormalities. This report describes a case of congenital hypothyroidism in a 20-year-old female patient, presenting with a short stature, hypotonia, alopecia, euryprosopic face with puffiness, multiple retained deciduous teeth, delayed fusion of the intracranial sutures, and epiphysis and diaphysis of the long bones. Based on various biochemical and radiographic investigations, diagnosis of congenital hypothyroidism was established. Craniometry and hand-wrist radiographic evaluation of the growth pattern further aided in strengthening the diagnosis.

HAND OSTEOARTHROSIS: ON THE QUALITY OF LIFE AND AESTHETIC DISCOMFORT

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Anastasia Viktorovna Sarapulova

2013-01-01

Full Text Available Osteoarthrosis (OA is one of the most common causes of hand pains, leading to lower quality of life (QL. In addition to pain and functional impairment, the patients' aesthetic dissatisfaction that cannot be now determined or measuredis of prime importanceObjective: to assess a number of QL aspects and to measure the level of aesthetic discomfort in patients with hand OA.Subjects and methods. Sixty women aged 45–75 years with hand OA were included. The number of painful and deformed joints was determined and functional impairments were evaluated using the AUSCAN questionnaire. The patients filled out the questionnaire to determine the level of dissatisfaction with the appearance of their hands; the Ellis stress test for irrational beliefs was carried out.Results. The patients with hand OA were found to have significant aesthetic discomfort comparable with level of joint pain. Deformity phobia in the future and external discomfort because of hand deformity were most pronounced; a wish for surgical correction was less pronounced. Comparison of the results obtained in different age groups determined the highest levels of anxiety and wish for surgical correction in younger women. The patients' aesthetic dissatisfaction was also influenced by employment and internet usage.Conclusion. Aesthetic discomfort is an important component of lower QL in patients with hand OA. Further investigation of this factor and elaboration of criteria for its estimation are needed.

Digital fringe projection for hand surface coordinate variation analysis caused by osteoarthritis

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Nor Haimi, Wan Mokhdzani Wan; Hau Tan, Cheek; Retnasamy, Vithyacharan; Vairavan, Rajendaran; Sauli, Zaliman; Roshidah Yusof, Nor; Hambali, Nor Azura Malini Ahmad; Aziz, Muhammad Hafiz Ab; Bakhit, Ahmad Syahir Ahmad

2017-11-01

Hand osteoarthritis is one of the most common forms of arthritis which impact millions of people worldwide. The disabling problem occurs when the protective cartilage on the boundaries of bones wear off over time. Currently, in order to identify hand osteoarthritis, special instruments namely X-ray scanning and MRI are used for the detection but it also has its limitations such as radiation exposure and can be quite costly. In this work, an optical metrology system based on digital fringe projection which comprises of an LCD projector, CCD camera and a personal computer has been developed to anticipate abnormal growth or deformation on the joints of the hand which are common symptoms of osteoarthritis. The main concept of this optical metrology system is to apply structured light as imaging source for surface change detection. The imaging source utilizes fringe patterns generated by C++ programming and is shifted by 3 phase shifts based on the 3 steps 2 shifts method. Phase wrapping technique and analysis were applied in order to detect the deformation of live subjects. The result has demonstrated a successful method of hand deformation detection based on the pixel tracking differences of a normal and deformed state.

Spatial coordinate systems for tactile spatial attention depend on developmental vision: evidence from event-related potentials in sighted and congenitally blind adult humans.

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Röder, Brigitte; Föcker, Julia; Hötting, Kirsten; Spence, Charles

2008-08-01

Changes in limb posture (such as crossing the hands) can impair people's performance in tasks such as those involving temporal order judgements, when one tactile stimulus is presented to either hand. This crossed hands deficit has been attributed to a conflict between externally and anatomically anchored reference systems when people localize tactile stimuli. Interestingly, however, the performance of congenitally blind adults does not seem to be affected by crossing the hands, suggesting a default use of an anatomically rather than an externally anchored reference system for tactile localization. In the present study, 12 congenitally blind and 12 sighted adults were instructed to attend to either the left or the right hand on a trial-by-trial basis in order to detect rare deviants (consisting of a double touch) at that hand, while ignoring both deviants at the other hand and frequent standard stimuli (consisting of a single touch) presented to either hand. Only the sighted participants performed less accurately when they crossed their hands. Concurrent electroencephalogram recordings revealed an early contralateral attention positivity, followed by an attention negativity in the sighted group when they adopted the uncrossed hands posture. For the crossed hand posture, only the attention negativity was observed with reduced amplitude in the sighted group. By contrast, the congenitally blind group displayed an event-related potential attention negativity that did not vary when the posture of their hands was changed. These results demonstrate that the default use of an external frame of reference for tactile localization seems to depend on developmental vision.

Clinico-roentgenological atlas of congenital malformations in human limbs

International Nuclear Information System (INIS)

Luzina, E.V.; Shakirov, Eh.A.

1990-01-01

The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

Task demands affect spatial reference frame weighting during tactile localization in sighted and congenitally blind adults

OpenAIRE

Heed, Tobias; Roeder, Brigitte; Badde, Stephanie; Schubert, Jonathan

2017-01-01

Task demands modulate tactile localization in sighted humans, presumably through weight adjustments in the spatial integration of anatomical, skin-based, and external, posture-based information. In contrast, previous studies have suggested that congenitally blind humans, by default, refrain from automatic spatial integration and localize touch using only skin-based information. Here, sighted and congenitally blind participants localized tactile targets on the palm or back of one hand, while i...

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

Frequency of different congenital anomalies in prenatally valproic acid treated chick embryos

International Nuclear Information System (INIS)

Akhtar, L.; Khan, M.Y.

2016-01-01

To determine the frequency of different congenital anomalies in surviving chick embryo on hatching after the prenatal administration of valproic acid by comparing with age-matched controls. Study Design: Experimental study. Place and Duration of Study: Anatomy Department, College of Physicians and Surgeons Pakistan (CPSP) Regional Centre, Islamabad, from February 2010 to February 2011. Material and Methods: Thirty fertilized chicken eggs were injected with valproic acid, incubated and then evaluated for different gross congenital anomalies, on hatching or day 22 of incubation whichever was earlier. Chicks of this group were labeled as experimental group-A. Similarly, another group of thirty fertilized chicken eggs labeled as control group-B, underwent sham treatment using normal saline. The weight and length of alive chicks, the total number of chicks with gross anomalies and the number of different types of gross anomalies in both groups were noted and statistically compared. Results: In control group-B, 28 chicks hatch out on 21 day of hatching with no visible gross deformities. Whereas in experimental group-A, 23 chicks were alive, out of which, 9 chicks were with delayed hatching on 22 days of hatching. The chicks with gross deformities were 8 (p=0.0008) which included: limb abnormalities (i.e. inverted feet) in 6 chicks (p=0.006), eye abnormality (i.e. closed palpebral fissure of both eyes) in 2 chick (p=0.2), 1 chick showed multiple deformities including gastroschisis, closed palpebral fissures and inverted foot (p=0.45). There were behavioral changes in 10 chicks (p=0.0001). There was statistically significant difference in their weights (p=0.03). Conclusion: Prenatal exposure of chick embryos to valproic acid increased the incidence of different gross deformities. (author)

Nd-Fe-B-Cu hot deformation processing: a comparison of deformation modes, microstructural development and magnetic properties

International Nuclear Information System (INIS)

Ferrante, M.; Sinka, V.; Assis, O.B.G.; Oliveira, I. de; Freitas, E. de

1996-01-01

Due to its relative simplicity and low cost the hot deformation of Nd-Fe-B ingots is rapidly reaching the status of a valid alternative to sintering. Among the possible deformation modes, pressing, rolling and forging are perhaps the most successful. This paper describes the research programme undertaken so far, by discussing the relationship between deformation mode, microstructure and magnetic properties of magnets produced by hot deformation mode, microstructure and magnetic properties of magnets produced by hot deformation of a number of Nd-fe-B-Cu alloys. Microstructural observation showed that both pressed and forged samples are characterized by a heterogeneous microstructure and from magnetic measurements it was concluded that magnetic properties differ when taken in the center or in the periphery of the sample. On the other hand roller magnets were homogeneous both in terms of microstructure and magnetic properties, and interpretations of the mechanisms of texture development and of microstructural development of hot deformed magnets is put forward. (author)

Conservative treatment of congenital false joint of shin in newborns and infants

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O. V. Shchokin

2017-04-01

Full Text Available Congenital false joint of shin occurs in 1 case per 28 000 - 190 000 live births, but it is hard-to-treat and disabling disease. Objective: Improving treatment outcomes, reducing the number of surgical interventions for the treatment of congenital false joint of shin. Materials and Methods. The method is carried out using staged plaster casts with the gradual correction of deformities. When axis of the leg approximates to the normal one, axial load is added. First, it is done by tapping on the heel. When the child was 7-8 months old he was put on the legs and taught to walk. The plaster bandage is replaced by "Scotch cast" and "soft cast" bandage. The treatment lasted up to reaching of clinical effect – correction of shin deformation and absence of pathological mobility. Clinical effect must be confirmed by roentgenography which must demonstrate filling of false joint zone with bone tissue and restoration of intramedullary canal. During all the period of treating alternate courses of electrophoresis with calcium chloride, medical mud extracts and magnetic therapy are conducted. In the period from 1995 till 2015 in the Regional Zaporizhzhia Children Clinical Hospital 4 children (6 shins aged from 1 to 7 months with false joint of shin were treated using proposed method. Results and discussion. All 4 children (6 shins treated in clinic with proposed conservative method showed filling of false joint zone with bone tissue, restoration of intramedullary canal and significant extension of axis of the shin. The load on the leg in early terms results in compression of bone fragments (as in compression-distraction osteosynthesis, magnetic therapy, electrophoresis with calcium chloride and medical mud extracts promote active functioning of the muscles that improves regional blood supply and improves osteogenesis. Conclusions. Using the proposed method of treatment of congenital false joint of shins in newborns and infants can allow avoiding surgical

Congenital distal humeral dysplasia: a case report

International Nuclear Information System (INIS)

Joseph, Benjamin; Varghese, Renjit A.

2003-01-01

Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia

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Gholamhossein Ghaffarpour

2014-01-01

Full Text Available Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol, Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia over her hands and feet was selected. The major affected nails were thumbs and Index fingers. Surgical method were done step by step: Anesthesia of the area, extraction of short nail, elevation of nail bed, longitudinal nail bed incisions, suturing the lateral nail bed to the nail wall, covering the nail bed by a splint of plastic suction tube, bandage with gauze Vaseline. Finally, we hypnotized that in congenital micronychia, the main pathology is in nail bed; through this theory by nail bed expansion better outcomes are coming.

Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

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Mukesh Tiwari

2013-04-01

Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

Touching Textures in Different Tasks by a Woman with Congenital Deaf-Blindness

Science.gov (United States)

Janssen, Marleen J.; Huisman, Mark; Van Dijk, Jan P. M.; Ruijssenaars, Wied A. J. J. M.

2012-01-01

Little is known about how persons with congenital deaf-blindness use hand movements efficiently for exploring different objects with different textures in different tasks. More knowledge in this area would contribute to the adaptations of educational strategies for encouraging touch and tactile exploration. The study presented in this article…

Needing a Safe Pair of Hands: Functioning and health-related quality of life in children with congenital hand differences

NARCIS (Netherlands)

M.S. Ardon (Monique )

2014-01-01

markdownabstract__Abstract__ Our hands are extensively used in everyday activities and are the primary means of interaction with our environment. We use our hands for eating, bathing, gesturing and in childhood they are one of our instruments to discover the world. Especially in the developing

Deviations in upper limb function of the less-affected side in congenital hemiparesis

NARCIS (Netherlands)

Steenbergen, B.; Meulenbroek, R.G.J.

2006-01-01

In the present study we examined upper-limb function of the less-affected side in young adolescents with congenital hemiparesis (cerebral palsy: CP). Five participants with hemiparetic CP and five control participants performed a cyclical reach-and-grasp task with the less-affected hand towards

Solving a mental rotation task in congenital hemiparesis: Motor imagery versus visual imagery

NARCIS (Netherlands)

Steenbergen, B.; Nimwegen, M.L. van; Crajé, M.C.

2007-01-01

A recent study showed that motor imagery was compromised after right congenital hemiparesis. In that study, posture of the displayed stimuli and the actual posture of the hand making the response were incongruent. Ample evidence exists that such an incongruency may negatively influence laterality

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

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Kobets, Andrew J; Komlos, Daniel; Houten, John K

2018-07-01

Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children. We describe the first case of successful surgical treatment in an infant with a high cervical kyphotic deformity in EDS. A 15-month-old female with EDS presented with several months of regression in gross motor skills in all four extremities. Imaging demonstrated 45° of kyphosis from the C2-4 levels with spinal cord compression. Corrective surgery consisted of a C3 corpectomy and C2-4 anterior fusion with allograft block and anterior fixation with dual 2 × 2 hole craniofacial miniplates, supplemented by C2-4 posterior fusion using four craniofacial miniplates fixated to the lamina. Radiographs at 20 months post-surgery demonstrated solid fusion both anteriorly and posteriorly with maintenance of correction. Ehlers-Danlos syndrome may present in the pediatric population with congenital kyphosis from cervical deformity in addition to the more commonly seen thoracolumbar deformities.

Prevalence of self-reported finger deformations and occupational risk factors among professional cooks: a cross-sectional study.

Science.gov (United States)

Nagasu, Miwako; Sakai, Kazuhiro; Kogi, Kazutaka; Ito, Akiyoshi; Feskens, Edith J M; Tomita, Shigeru; Temmyo, Yoshiomi; Ueno, Mitsuo; Miyagi, Shigeji

2011-05-26

Previous studies have pointed out that the school lunch workers in Japan are suffering from work-related disorders including finger deformations. The purpose of this study was to investigate the prevalence of self-reported finger deformations and the association with job-related risk factors. A cross-sectional questionnaire study of 5,719 subjects (response rate: 81%, 982 men and 4,737 women) was undertaken during September 2003 to February 2004. Finger deformations were found among 11.7% of the men and 35.6% of the women studied, with significant differences among sex, age and sex-age groups. For both men and women the pattern of finger deformations across the hand was similar for the right and the left hand. For women, the deformations were found in about 10% of the distal interphalangeal joints of all fingers. Based on multiple logistic regression analyses, the factors female sex, age, the number of cooked lunches per cook and cooking activities were independently associated with the prevalence of finger deformations. High prevalence odds ratios were found for those frequently carrying or using tools by hands such as delivering containers, distributing meals, preparing dishes, washing equipment, cutting and stirring foods. Among the school lunch workers studied, women had a higher prevalence of finger deformations on all joints of both hands. Various cooking tasks were associated with the prevalence of finger deformations. The results suggest that improvements in working conditions are important for preventing work-related disorders such as finger deformations.

16 multi-slice CT three-dimensional and multiplanar reconstruction for evaluation of pediatric congenital scoliosis

International Nuclear Information System (INIS)

Peng Yun; Zhang Ningning; Zhang Xuejun; Sun Guoqiang; Zeng Jinjin

2006-01-01

Objective: Our study is to use of 16 MSCT three-dimensional images and multiplanar reconstruction images in the preoperative investigation of patients with congenital scoliosis, to study its technical advantage and work out surgical plan. Methods: Twenty-seven pediatric patients with congenital scoliosis processing between April to October 2004 were reviewed, including 13 boys and 14 girls. X-ray plain film and sixteen multi-slice CT examination on curved/standard multiplanar reconstruction and three- dimensional computed tomographic imaging may offer, many potential advantages for defining congenital spine anomalies liable to cause progression of scoliosis, including visualization of the deformity in any plane, from any angle, with the overlying structures subtracted. Results: Ten patients had segmentation defects, 6 patients underwent formation defects, 11 patients had complex, unclassifiable anomalies. The patients of rib deformity were found in 15 patients, the most prominent part of the rib cage deformity was at the same level as the most rotated vertebra in 7 patients; 8 patients had vertebral anomalies accompanied with diastematomyelie, including 6 patients with uncompleted or completed bony spur. In 19 of 27 cases, the muhiplanar reconstruction and three-dimensional images allowed identification of unrecognized malformations and completely evaluated the degree of scoliosis, during conventional X-ray images and axial CT images, including volume 3D imaging evaluated approximately classification and modality of complex anomalies in 11 cases, which were unclassifiable malformation in 7 cases and unsegmented bar with contralateral hemivertebrae; 4 children had segmentation defects revealed unilateral unsegmented bar (3 cases) and bilateral block vertebra (1 case) in volume 3D reconstruction images; 2 children were found occultation hemivertebrae which were not been discovered during conventional X-ray images and axial CT images; and 2 children were revaluated

Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg

NARCIS (Netherlands)

Simmelink, Elisabeth K.; Rommers, Gerardus M.; Gardeniers, Jean W. M.; Zijlstra, Henk

Background: The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Case description and methods: Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a

Reconstruction of Nasal Cleft Deformities Using Expanded Forehead Flaps: A Case Series.

Science.gov (United States)

Ramanathan, Manikandhan; Sneha, Pendem; Parameswaran, Ananthnarayanan; Jayakumar, Naveen; Sailer, Hermann F

2014-12-01

Reconstruction of the nasal clefts is a challenging task considering the nasal anatomic complexity and their possible association with craniofacial defects. The reconstruction of these defects needs extensive amounts of soft tissue that warrant the use of forehead flaps. Often presence of cranial defects and low hairline compromise the amount of tissue available for reconstruction warrenting tissue expansion. To evaluate the efficacy of tissue expansion in reconstruction of congenital nasal clefts. 9 patients with congenital nasal clefts involving multiple sub units were taken up for nasal reconstruction with expanded forehead flaps. The average amount of expansion needed was 200 ml. The reconstruction was performed in 3 stages. Expanded forehead flaps proved to be best modality for reconstruction providing the skin cover needed for ala, columella and dorsum with minimal scarring at the donor site. Expansion of the forehead flap is a viable option for multiple sub unit reconstruction in congenital nasal cleft deformities.

Management of Commonly Encountered Secondary Cleft Deformities of Face-A Case Series

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Jacob John

2017-10-01

Full Text Available Orofacial clefts are one of the commonest congenital deformities occurring due to disturbances during the embryological formation, development and growth of orofacial region. The treatment of cleft deformities in the early period of life is mandatory to address the aesthetic, functional and psychological problems affecting the child. A considerable number of surgical modalities for definitive correction of unilateral and bilateral cleft lip, nose, and eyelid deformities have been reported over the past half century. After the initial cleft repair, there is a long period of dramatic growth. This powerful variable of growth may ultimately distort the immediate surgical result. Hence, the correction of secondary deformities plays a very important part in the care of these patients. In this article we are enlisting some simple techniques to correct the commonly encountered secondary cleft deformities of face that gave acceptable results to the patients. These corrective surgeries not only improved the function and aesthetics but also increased the confidence level, satisfaction and overall quality of life of the patient.

The swimming of a perfect deforming helix

Science.gov (United States)

Koens, Lyndon; Zhang, Hang; Mourran, Ahmed; Lauga, Eric

2017-11-01

Many bacteria rotate helical flagellar filaments in order to swim. When at rest or rotated counter-clockwise these flagella are left handed helices but they undergo polymorphic transformations to right-handed helices when the motor is reversed. These helical deformations themselves can generate motion, with for example Rhodobacter sphaeroides using the polymorphic transformation of the flagellum to generate rotation, or Spiroplasma propagating a change of helix handedness across its body's length to generate forward motion. Recent experiments reported on an artificial helical microswimmer generating motion without a propagating change in handedness. Made of a temperature sensitive gel, these swimmers moved by changing the dimensions of the helix in a non-reciprocal way. Inspired by these results and helix's ubiquitous presence in the bacterial world, we investigate how a deforming helix moves within a viscous fluid. Maintaining a single handedness along its entire length, we discuss how a perfect deforming helix can create a non-reciprocal swimming stroke, identify its principle directions of motion, and calculate the swimming kinematics asymptotically.

Recreational scuba diving in patients with congenital heart disease: Time for new guidelines.

Science.gov (United States)

Schleich, Jean-Marc; Schnell, Frédéric; Brouant, Benoît; Phan, Gerald; Lafay, Vincent; Bonnemains, Laurent; Bédossa, Marc

2016-01-01

The number of recreational scuba divers is steadily increasing. In its latest recommendations, the French Federation of Undersea Studies and Sports listed congenital heart disease as a formal and final contraindication to scuba diving. On the other hand, with the progress made in their management, the prognosis and quality of life of patients with congenital heart diseases have improved considerably, enabling them to engage in physical and sports endeavours, which are known to confer general health and psychological benefits. As a consequence, the ability of these patients to dive has become a regular and recurrent issue. We review the various types of scuba diving, the physical performance required for its practice, its effects on cardiovascular function and the elements that need to be considered before recommending whether it can be practiced safely at various levels of difficulty. Because of the diversity and broad heterogeneity of congenital heart diseases, a detailed evaluation of each patient's performance based on clinical criteria common to all congenital heart diseases is recommended. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

The Free-Hand Technique for S2-Alar-Iliac Screw Placement: A Safe and Effective Method for Sacropelvic Fixation in Adult Spinal Deformity.

Science.gov (United States)

Shillingford, Jamal N; Laratta, Joseph L; Tan, Lee A; Sarpong, Nana O; Lin, James D; Fischer, Charla R; Lehman, Ronald A; Kim, Yongjung J; Lenke, Lawrence G

2018-02-21

Spinopelvic fixation is an integral part of achieving solid fusion across the lumbosacral junction, especially in deformity procedures requiring substantial correction or long-segment constructs. Traditional S2-alar-iliac (S2AI) screw-placement techniques utilize fluoroscopy, increasing operative time and radiation exposure to the patient and surgeon. We describe a novel free-hand technique for S2AI screw placement in patients with adult spinal deformity. We reviewed the records of 45 consecutive patients who underwent spinopelvic fixation performed with use of S2AI screws by the senior surgeon and various fellows or residents over a 12-month period (2015 to 2016). In each case, the S2AI screws were placed utilizing a free-hand technique without fluoroscopic or image guidance. Screw position and accuracy were assessed by intraoperative O-arm imaging and analyzed using 3-dimensional interactive manipulation of computed tomography images. A total of 100 screws were placed, 51 by the senior surgeon and 49 by trainees. The mean patient age was 57.4 ± 12.7 years at the time of surgery; 37 (82.2%) of the patients were female. Preoperative diagnoses included adult idiopathic scoliosis (n = 19), adult degenerative scoliosis (n = 15), flatback syndrome (n = 2), fixed sagittal imbalance (n = 6), and distal junctional kyphosis (n = 3). Five (5%) of the screws were placed with moderate to severe cortical breaches, all of which perforated the pelvis posteriorly, with no clinically notable neurovascular or visceral complications. The breach rate did not differ significantly between the senior surgeon and trainees. The free-hand technique for S2AI screw placement, when performed in a standardized manner, was demonstrated to be safe and reliable in constructs requiring spinopelvic fixation. The accuracy of screw placement relies on visible and palpable anatomic landmarks that obviate the need for intraoperative fluoroscopy or image guidance, potentially reducing operative time

Prevalence of self-reported finger deformations and occupational risk factors among professional cooks: a cross-sectional study

Directory of Open Access Journals (Sweden)

Tomita Shigeru

2011-05-01

Full Text Available Abstract Background Previous studies have pointed out that the school lunch workers in Japan are suffering from work-related disorders including finger deformations. The purpose of this study was to investigate the prevalence of self-reported finger deformations and the association with job-related risk factors. Methods A cross-sectional questionnaire study of 5,719 subjects (response rate: 81%, 982 men and 4,737 women was undertaken during September 2003 to February 2004. Results Finger deformations were found among 11.7% of the men and 35.6% of the women studied, with significant differences among sex, age and sex-age groups. For both men and women the pattern of finger deformations across the hand was similar for the right and the left hand. For women, the deformations were found in about 10% of the distal interphalangeal joints of all fingers. Based on multiple logistic regression analyses, the factors female sex, age, the number of cooked lunches per cook and cooking activities were independently associated with the prevalence of finger deformations. High prevalence odds ratios were found for those frequently carrying or using tools by hands such as delivering containers, distributing meals, preparing dishes, washing equipment, cutting and stirring foods. Conclusions Among the school lunch workers studied, women had a higher prevalence of finger deformations on all joints of both hands. Various cooking tasks were associated with the prevalence of finger deformations. The results suggest that improvements in working conditions are important for preventing work-related disorders such as finger deformations.

Assessment of Health Needs in Children with Congenital Upper Limb Differences in Nicaragua: Community Case Study

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Maria F. Canizares

2017-05-01

Full Text Available Congenital anomalies are prevalent in Nicaragua, and disability is estimated to be 10% in the general population. We studied children with congenital upper limb differences, as they are vulnerable to disability. This case study documents a collaborative effort between American and Nicaraguan orthopedic surgeons to determine unmet health needs of children with congenital upper limb differences at Hospital Manuel de Jesus Rivera (“La Mascota” Hospital in Nicaragua, with the goal of developing programs that successfully address these needs within the context of the priorities of the community. Participants were recruited during one of the biannual pediatric hand specialty clinics held by a partnership of pediatric hand surgeons and occupational therapists under the auspices of Health Volunteers Overseas (La Brigada de las Manos, or “La Brigada” and Nicaraguan orthopedic surgeons. Structured interviews were performed with 34 parents or caregivers of patients with the diagnosis of a congenital upper limb difference. Parents were asked to rank the social, economic, environmental, and biological factors that determine health according to priority. Using the Hanlon Method for prioritizing health problems, in consultation with local providers and the program director of La Brigada, five needs were identified: (1 improvements in access to specialized care from hand surgeons and (2 rehabilitation specialists; (3 improvements in upper extremity function; (4 access to transportation; and (5 improvement in physical activity and sports participation. Based on the results of this needs assessment, we learned that some of the needs were already part of the ongoing work of the partnership, but in addition, more needs became evident; for that reason, local health care providers and members of La Brigada identified potential solutions to these needs and are currently working to translate these in future interventions.

Impact of parental ages and other characteristics at childbearing on congenital anomalies: Results for the Czech Republic, 2000-2007

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Jitka Rychtarikova

2013-01-01

Full Text Available BACKGROUND If the impact of maternal age at childbearing on congenital anomalies is well-known for the occurrence of Down syndrome, less is known concerning its effects on other major anomalies. Information is even scarcer for the possible effects of other maternal characteristics and of age of the father. OBJECTIVE We present new results on the associations between parental ages and other maternal characteristics, on the one hand, and congenital anomalies, on the other hand, using data linkage between three Czech registries on mother, newborn, and malformations, for the period 2000-2007. METHODS As the variables are in categorical format, binary logistic regression is used in order to investigate the relationship between presence/absence of a congenital anomaly, for each of the eleven types of anomalies considered, and the set of predictors. RESULTS This research confirms the impact of a higher age of the mother on Down syndrome and on other chromosomal anomalies. Paternal age is not associated with chromosomal anomalies and, in this Czech population, has a rather slight effect on some of the congenital anomalies examined. Another finding of the present study is the possible role of various other maternal characteristics on congenital malformations. CONCLUSIONS Based on a large data set, this study concludes that both parental ages can be associated with congenital anomalies of the child, and that maternal characteristics other than age have also to be considered. COMMENTS Risk factors can be tentatively proposed if they are based on a plausible and suitably tested explanatory mechanism. Unfortunately, in the majority of individual cases of congenital anomaly, the cause of the condition is still unknown and suspected to be an interaction of multiple environmental and genetic factors.

Multidisciplinary approach for management of dentofacial deformity of a patient with goldenhar syndrome

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Usha Shenoy

2018-01-01

Full Text Available Goldenhar syndrome is a rare congenital craniofacial deformity, associated with anomalies of the head and spinal cord. The syndrome may affect the eyes, ears, face, and mouth and can also differ greatly in the degree of seriousness. The precise etiology of this syndrome is still not identified. Adult patients with dentoskeletal deformities usually need orthodontic and surgical corrections, requiring an integrated approach, patient cooperation, and systemized treatment planning. A poor facial appearance is often the patient's chief complaint, but it may be accompanied by functional problems, temporomandibular joints disorders, or psychosocial handicaps. The present case report highlights the orthodontic and surgical management of a patient with Goldenhar syndrome.

Diagnostic imaging of the hand. 3. rev. and enl. ed.; Bildgebende Diagnostik der Hand

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Schmitt, Rainer [Herz und Gefaessklinik GmbH, Bad Neustadt (Germany). Klinik fuer Diagnostische und Interventionelle Radiologie; Lanz, Ulrich

2015-07-01

The book on diagnostic imaging of the hand covers the following issues: projection radiography, cinematography, MRT and CR arthrography, arthroscopy, arteriography, skeleton scintiscanning, sonography, computerized tomography, magnetic resonance tomography, anatomy of forearm and carpus, anatomy of metacarpus and fingers, carpal function and morphometry, postoperative X-ray diagnostic, growing hand skeleton, normative variants, malformations and deformities, trauma of the distal forearm, lesions of the ulnocarpal complex (TFCC), scaphoid fractures, scaphoid arthrosis, fractures of other carpus bones, carpal luxations and luxation fractures, carpal instabilities, fractures of the metacarpalla, finger fractures, arthrosis deformans, enthesiopathies, sport induced soft tissue lesions, osteonecrosis, impingement syndromes, osteopenic skeletal diseases, metabolis diseases, crystal-induced osteoarthropaties, rheumatoid arthritis, spondyloarthritis, rheumatic fever, collagenoses, infective arthritis, osteomyelitis, soft tissue infections, cystoids bone lesions, skeletal tumors, soft tissue tumors, carpal tunnel syndrome, nerve compression syndrome, arterial perfusion disturbances, differential diagnostic tables on hand lesions.

Ipsilesional motor-evoked potential absence in pediatric hemiparesis impacts tracking accuracy of the less affected hand.

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Cassidy, Jessica M; Carey, James R; Lu, Chiahao; Krach, Linda E; Feyma, Tim; Durfee, William K; Gillick, Bernadette T

2015-12-01

This study analyzed the relationship between electrophysiological responses to transcranial magnetic stimulation (TMS), finger tracking accuracy, and volume of neural substrate in children with congenital hemiparesis. Nineteen participants demonstrating an ipsilesional motor-evoked potential (MEP) were compared with eleven participants showing an absent ipsilesional MEP response. Comparisons of finger tracking accuracy from the affected and less affected hands and ipsilesional/contralesional (I/C) volume ratio for the primary motor cortex (M1) and posterior limb of internal capsule (PLIC) were done using two-sample t-tests. Participants showing an ipsilesional MEP response demonstrated superior tracking performance from the less affected hand (p=0.016) and significantly higher I/C volume ratios for M1 (p=0.028) and PLIC (p=0.005) compared to participants without an ipsilesional MEP response. Group differences in finger tracking accuracy from the affected hand were not significant. These results highlight differentiating factors amongst children with congenital hemiparesis showing contrasting MEP responses: less affected hand performance and preserved M1 and PLIC volume. Along with MEP status, these factors pose important clinical implications in pediatric stroke rehabilitation. These findings may also reflect competitive developmental processes associated with the preservation of affected hand function at the expense of some function in the less affected hand. Copyright © 2015 Elsevier Ltd. All rights reserved.

Cytomegalovirus survival and transferability and the effectiveness of common hand-washing agents against cytomegalovirus on live human hands.

Science.gov (United States)

Stowell, Jennifer D; Forlin-Passoni, Daniela; Radford, Kay; Bate, Sheri L; Dollard, Sheila C; Bialek, Stephanie R; Cannon, Michael J; Schmid, D Scott

2014-01-01

Congenital cytomegalovirus (CMV) transmission can occur when women acquire CMV while pregnant. Infection control guidelines may reduce risk for transmission. We studied the duration of CMV survival after application of bacteria to the hands and after transfer from the hands to surfaces and the effectiveness of cleansing with water, regular and antibacterial soaps, sanitizer, and diaper wipes. Experiments used CMV AD169 in saliva at initial titers of 1 × 10(5) infectious particles/ml. Samples from hands or surfaces (points between 0 and 15 min) were placed in culture and observed for at least 2 weeks. Samples were also tested using CMV real-time PCR. After application of bacteria to the hands, viable CMV was recovered from 17/20 swabs at 0 min, 18/20 swabs at 1 min, 5/20 swabs at 5 min, and 4/20 swabs at 15 min. After transfer, duration of survival was at least 15 min on plastic (1/2 swabs), 5 min on crackers and glass (3/4 swabs), and 1 min or less on metal and cloth (3/4 swabs); no viable virus was collected from wood, rubber, or hands. After cleansing, no viable virus was recovered using water (0/22), plain soap (0/20), antibacterial soap (0/20), or sanitizer (0/22). Viable CMV was recovered from 4/20 hands 10 min after diaper wipe cleansing. CMV remains viable on hands for sufficient times to allow transmission. CMV may be transferred to surfaces with reduced viability. Hand-cleansing methods were effective at eliminating viable CMV from hands.

Autobiographic narratives of congenital blind people

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Maria Elisa Caputo Ferreira

2009-12-01

Full Text Available The research carried out in Juiz de Fora, MG, Brazil, intended at investigating, together with men and women who suffer from congenital visual impairment, how they felt about diversity, body image, self-esteem and vanity. The investigation of autobiographical accounts was the option for this study. Initially, 20 (twenty interviews were analyzed and 6 (six autobiographical accounts, selected from the peculiarities of each single interviewee – each one containing his/her single life lessons - followed suit. The conclusion reached is that the subjects had undergone an exhausting process of acceptance of their own impairment. If, on the one hand, the blindness comes with angst, uncertainties, and many difficulties, on the other hand, these circumstances lead the blind to face the ups and downs of life with courage, determination and will to live. Surprisingly, in the study the body was not approached at a source of concern or are which should be emphasized.

Congenital Hypothyroidism

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

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

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L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

Mitochondrial disorders in congenital myopathies

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D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

Using postural synergies to animate a low-dimensional hand avatar in haptic simulation.

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Mulatto, Sara; Formaglio, Alessandro; Malvezzi, Monica; Prattichizzo, Domenico

2013-01-01

A technique to animate a realistic hand avatar with 20 DoFs based on the biomechanics of the human hand is presented. The animation does not use any sensor glove or advanced tracker with markers. The proposed approach is based on the knowledge of a set of kinematic constraints on the model of the hand, referred to as postural synergies, which allows to represent the hand posture using a number of variables lower than the number of joints of the hand model. This low-dimensional set of parameters is estimated from direct measurement of the motion of thumb and index finger tracked using two haptic devices. A kinematic inversion algorithm has been developed, which takes synergies into account and estimates the kinematic configuration of the whole hand, i.e., also of the fingers whose end tips are not directly tracked by the two haptic devices. The hand skin is deformable and its deformation is computed using a linear vertex blending technique. The proposed synergy-based animation of the hand avatar involves only algebraic computations and is suitable for real-time implementation as required in haptics.

Genetic diagnosis for congenital hemolytic anemia.

Science.gov (United States)

Ohga, Shouichi

2016-01-01

Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

Ehlers-Danlos syndrome type IV : unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

NARCIS (Netherlands)

Kroes, HY; Pals, G; van Essen, AJ

A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an

Leg lengthening in patients with congenital fibular hemimelia.

Science.gov (United States)

Jasiewicz, Barbara; Kacki, Wojciech; Koniarski, Arkadiusz; Kasprzyk, Marcin; Zarzycka, Maja; Tesiorowski, Maciej

2002-08-30

Background. Anisomelia in patients with congenital fibular deficiencies is a difficult orthopedic problem due to concomitant deformities of the angle and knee. The goal of the present study was to analyze outcomes of tibia lengthening in these patients. Material and methods. In the period 1989-2001 we performed lengthening of 26 limbs in 21 patients with congenital fibular deficiency (11 female, 10 male, average age 10.1 years). Under the Achterman-Kalamchi classification, 8 tibiae were Type 1, 3 were Type 1b, and 10 were Type 2 (including one case with bilateral defect). The average baseline shortening was 4.6 cm, i.e. 15.3%. The Ilizarov method was used in 24 cases, chondrial lengthening in the others. We measured time of lengthening, time of stabilization, total healing time, amount of lengthening, and the lengthening index, as well as the range of ankle and knee movement, the positioning of the foot, and the axis of the tibia at each stage. Problems and complications were classified according to Paley. The average follow-up was 4.9 years Results. The mean time of lengthening was 101 days, stabilization time 177 days, total healing time 269 days, mean lengthening 5.6 cm (22.9%). As of the last examination only 7 patients did not require follow-up surgery, 6 with Type 1a and 1 with Type 1b. Conclusions. Tibia lengthening with axis correction constitutes an alternative to amputation in congenital fibular deficiency. It is a difficult procedure, however, encumbered by a significant risk of complications.

Inner ear anomalies causing congenital sensorineural hearing loss: CT and MR imaging findings

International Nuclear Information System (INIS)

Hong, Hyun Sook; Paik, Sang Hyun; Cha, Jang Gyu; Park, Seong Jin; Joh, Joon Hee; Park, Jai Soung; Kim, Dae Ho; Lee, Hae Kyung; Kim, Shi Chan

2005-01-01

Many congenital dysplasias of the osseous labyrinth have been identified, and the differential diagnosis of these dysplasias is essential for delivering proper patient management. We retrospectively reviewed the computed tomography (CT) and magnetic resonance (MR) imaging findings of 20 children who had congenital sensorineural hearing loss. The children included cases of enlarged vestibular aqueduct and endolymphatic sac (n=8), aplasia of the semicircular canal (n=4), lateral semicircular canal-vestibule dysplasia (n=3), common cavity malformations with a large vestibule (n=1), cochlear hypoplasia (n=1), Mondini's dysplasia with large vestibular aqueduct (n=1), Mondini's dysplasia with a large vestibule (n=1), and small internal auditory canal (n=1). Six cases were unilateral. Nine cases had combined deformities, and nine cased had cochlear implants. CT was performed with a 1.0-mm thickness in the direct coronal and axial sections with using bone algorithms. MR was performed with a temporal 3D T2 FSE 10-mm scan and with routine brain images. We describe here the imaging features for the anomalies of the inner ear in patients suffering from congenital sensorineural hearing loss

Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of three cases

Energy Technology Data Exchange (ETDEWEB)

Levesque, M.; Legmann, P.; Le Cloirec, A.; Deybach, J.C.; Nordmann, Y.

1988-01-01

Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium.

Cytomegalovirus Congenital Cataract

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Ridha Wahyutomo

2011-06-01

Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

Grasping without sight: insights from the congenitally blind.

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Kayla D Stone

Full Text Available We reach for and grasp different sized objects numerous times per day. Most of these movements are visually-guided, but some are guided by the sense of touch (i.e. haptically-guided, such as reaching for your keys in a bag, or for an object in a dark room. A marked right-hand preference has been reported during visually-guided grasping, particularly for small objects. However, little is known about hand preference for haptically-guided grasping. Recently, a study has shown a reduction in right-hand use in blindfolded individuals, and an absence of hand preference if grasping was preceded by a short haptic experience. These results suggest that vision plays a major role in hand preference for grasping. If this were the case, then one might expect congenitally blind (CB individuals, who have never had a visual experience, to exhibit no hand preference. Two novel findings emerge from the current study: first, the results showed that contrary to our expectation, CB individuals used their right hand during haptically-guided grasping to the same extent as visually-unimpaired (VU individuals did during visually-guided grasping. And second, object size affected hand use in an opposite manner for haptically- versus visually-guided grasping. Big objects were more often picked up with the right hand during haptically-guided, but less often during visually-guided grasping. This result highlights the different demands that object features pose on the two sensory systems. Overall the results demonstrate that hand preference for grasping is independent of visual experience, and they suggest a left-hemisphere specialization for the control of grasping that goes beyond sensory modality.

Congenital malformations and damage in early infancy of the central nervous system

International Nuclear Information System (INIS)

Jansen, O.; Stephani, U.

2007-01-01

Congenital malformations and cerebral damage in early infancy cause complex morphological and clinical changes. Modern imaging techniques, and especially NMR, have provided deeper knowledge of these diseases in the past few years. Based on the neuroradiological findings, the book presents a complete picture of congenital malformations of the central nervous systems and cerebral damage in early infancy; it describes the underlying pathomechanisms, clinical symptoms and therapies. Neurologists and neuropaediatricians are enabled to diagnose malformations correctly and to develop optimal therapy strategies in cooperation with other medical disciplines. Neuroradiologists and radiologists, on the other hand, will find a manual for correct interpretation and differential diagnosis of their findings and a guide for interpreting the findings and deciding further therapeutic or diagnostic interventions. (orig.)

Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg.

Science.gov (United States)

Simmelink, Elisabeth K; Rommers, Gerardus M; Gardeniers, Jean W M; Zijlstra, Henk

2014-04-01

The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a normal socket fitting process was not possible. Using a multidisciplinary approach, a prosthesis was designed to enable full weight bearing in a flexed knee position with ischial tuberosity support to prevent full weight bearing on the tibial part of the stump. After training and adjustments to the design, a definitive prosthesis with a free motion mechanical knee joint could be used. During the training with this prosthesis, no skin problems were observed, and at the end of the rehabilitation, the patient had a high level of activities of daily living and sports. The above prosthetic solution with an adjusted socket design proved to be successful in this case. Clinical relevance In a patient with severe congenital vascular malformation deformity leading to a transtibial amputation, fitting of a good prosthesis without full weight bearing of the stump proved to be successful.

Pleural Effusion in Spinal Deformity Correction Surgery- A Report of 28 Cases in a Single Center.

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Weiqiang Liang

Full Text Available To analyze the occurrence, risk factors, treatment and prognosis of postoperative pleural effusion after spinal deformity correction surgery.The clinical and imaging data of 3325 patients undergoing spinal deformity correction were collected from the database of our hospital. We analyzed the therapeutic process of the 28 patients who had postoperative pleural effusion, and we identified the potential risk factors using logistic regression.Among the 28 patients with postoperative pleural effusion, 24 (85.7% suffered from hemothorax, 2 (7.1% from chylothorax, and 2 (7.1% from subarachnoid-pleural fistula. The pleural effusion occurred on the convex side in 19 patients (67.9%, on the concave side in 4 patients (14.3%, and on both sides in 4 patients (14.3%. One patient with left hemothorax was diagnosed with kyphosis. The treatment included conservative clinical observation for 5 patients and chest tube drainage for 23 patients. One patient also underwent thoracic duct ligation and pleurodesis. All of these treatments were successful. Logistic regression analysis showed that adult patients(≥18 years old, congenital scoliosis, osteotomy and thoracoplasty were risk factors for postoperative pleural effusion in spinal deformity correction surgery.The incidence of postoperative pleural effusion in spinal deformity correction surgery was approximately 0.84% (28/3325, and hemothorax was the most common type. Chest tube drainage treatment was usually successful, and the prognosis was good. Adult patients(≥18 years old, congenital scoliosis, and had undergone osteotomy or surgery with thoracoplasty were more likely to suffer from postoperative pleural effusion.

Repair of pectus deformities: Experience and outcome in 317 cases

International Nuclear Information System (INIS)

Geric, O.; Gurkok, S.; Gozubuyuk, A.; Dakak, M.; Caytak, H.; Yucels, O.

2006-01-01

The most common congenital chest wall reformatories are pectus excavatum and pectus carinatum. Various techniques have been described for correction of pectus deformities. We describe our experience with surgical repair of pectus deformity (PD) in adults, including our new techniques, which uses a restorable plaque for fixation of the sternum. We reviewed the records of 317 patients who underwent surgical correction of PD between October 1997 and December 2005. All of the patients were male and the median age was 21.3 years (range 16-32 years). Of 317 patients, the type of deformity was a pectus excavatum in 230 patients and a pectus carination in 87 of the patients. Four different operative techniques were used. There were no intraoperative deaths or major perioperative morbidity. The complications rate was 17%. Overall mean hospital stay was 14.25 days. In 208 patients who underwent a mid-term outpatient follow up (mean, 8 months), there was no recurrence. Patient satisfaction was excellent in 234 patients, good in 79 patients and fair in 4 patients. The majority of patients with pectus deformity have been operated on during childhood; therefore there is limited published information about the correction of pectus cranium deformation in adults. The most important point in pectus correction is to achieve proper and long term stability of the sternum following osteotomy. Various techniques can be used for this purpose. (author)

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

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Passias, Peter G; Poorman, Gregory W; Jalai, Cyrus M; Diebo, Bassel G; Vira, Shaleen; Horn, Samantha R; Baker, Joseph F; Shenoy, Kartik; Hasan, Saqib; Buza, John; Bronson, Wesley; Paul, Justin C; Kaye, Ian; Foster, Norah A; Cassilly, Ryan T; Oren, Jonathan H; Moskovich, Ronald; Line, Breton; Oh, Cheongeun; Bess, Shay; LaFage, Virginie; Errico, Thomas J

2017-10-09

Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Congenital tuberculosis

African Journals Online (AJOL)

Prof Ezechukwu

2012-06-20

Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

Correction of severe postburn claw hand.

Science.gov (United States)

Davami, Babak; Pourkhameneh, Golnar

2011-12-01

Burn scar contractures are perhaps the most frequent and most frustrating sequelae of thermal injuries to the hand. Unfortunately, stiffness occurs in the burned hand quickly. A week of neglect in the burned hand can lead to digital malpositioning and distortion that may be difficult to correct. The dorsal contracture is the most common of all the complications of the burned hand. It is the result of damage to the thin dorsal skin and scant subcutaneous tissue, which offers little protection to the deeper structures. Consequently, these injuries are deep resulting in a spectrum of deformities that has remained the bane of reconstructive surgery. Flap coverage will be required in the event of exposure of joints and tendons with absent paratenons. Multiple different flap types are available to treat complex severe postburn hand contractures. In our center, which is the largest regional burn center in northwest Iran, we have considerable experience in the treatment of thermal hand injuries. Between 2005 and 2010, we treated 53 consecutive patients with 65 severe postburn hand deformities. There were 35 men and 18 women with a mean age of 35±3 years. Flame injury was the inciting traumatic event in each patient. The severity of original injury and inadequate early treatment resulted in all of the fingers developing a severe extension contracture with scarred and adherent extensor tendons and subluxed metacarpophalangeal joints. In 36 cases, the injury was in the patients' dominant hand. We first incised the dorsal aspect of the contracted hands where there was maximum tension, then tenolysed the extensor tendons and released the volar capsules, collateral ligaments, and volar plate in all cases. In 30 cases, we also tenolysed the flexor tendons. We reduced the subluxed metacarpophalangeal joints and fixed them with Kirschner wires in 70 to 90 degrees flexion. Then, we planned and performed axial groin flaps to reconstruct the defects in all of them. In all of these

Congenital and acquired foot disorders and their roentgenographic examination

International Nuclear Information System (INIS)

Weber, M.

1986-01-01

In addition to general radiologic aspects there are special orthopedic considerations have in interpretation of X-rays of the foot. This is especially important for the diagnosis of orthopedic foot diseases. In clubfoot X-rays are useful for therapeutic planning and control. Even in the first months of life radiographs can show important disturbances of growth of the foot and displacement of the bones of the tarsus. In other congenital foot deformities X-rays are important for diagnostic reasons: they prove luxations or skeletal deformities. The most important acquired foot disease is the pronating foot. X-rays do not only show the amount of joint damage and structural changes of bones but also allow to draw conclusions to be drawn about the causes of static and dynamic changes of the foot skeleton. Functional diagnostic radiological investigation is of decisive importance for evaluation of infantile pronating foot. X-rays allow the differentiation to be made between physiological and pathologic changes. Subtle radiographic investigation is essential while planning operative treatment in childhood, as in adults. (orig.) [de

Foot deformities in Renaissance paintings. A mystery of symbolism, artistic licence, illusion and true representation in five renowned Renaissance painters.

Science.gov (United States)

Lazzeri, D; Castello, M F; Grassetti, L; Dashti, T; Zhang, Y X; Persichetti, P

2015-01-01

Although Renaissance artists were skilled in representing normal anatomy, a close look at some paintings reveals anatomical variations in the depiction of the feet of human figures. A systematic review has identified 25 paintings by five artists in which the presumptive medico-artistic diagnosis of congenital or acquired foot deformity seems to be varyingly present. The connection between these five painters and what factors have influenced artists' style in the depiction of such deformities is discussed. The possible iconography and medical-historical meaning of such variations, as well as the possibility of artistic licence and real representation that drove the painters to depict these deformities, is explored and debated.

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p- in association with congenital hypospadias and foot deformity

Directory of Open Access Journals (Sweden)

Ermis Hayri

2003-01-01

Full Text Available Abstract Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-. We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4(p14 karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

Science.gov (United States)

Aslan, Halil; Karaca, Nilay; Basaran, Seher; Ermis, Hayri; Ceylan, Yavuz

2003-01-01

Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome. PMID:12546710

Correction of axial deformity during lengthening in fibular hypoplasia: Hexapodal versus monorail external fixation.

Science.gov (United States)

Chalopin, A; Geffroy, L; Pesenti, S; Hamel, A; Launay, F

2017-09-01

Childhood fibular hypoplasia is a rare pathology which may or may not involve limb-length discrepancy and axial deformity in one or more dimensions. The objective of the present study was to compare the quality of the axial correction achieved in lengthening procedures by hexapodal versus monorail external fixators. The hypothesis was that the hexapodal fixator provides more precise correction. A retrospective multicenter study included 52 children with fibular hypoplasia. Seventy-two tibias were analyzed, in 2 groups: 52 using a hexapodal fixator, and 20 using a monorail fixator. Mean age was 10.2 years. Mean lengthening was 5.7cm. Deformities were analyzed and measured in 3 dimensions and classified in 4 preoperative types and 4 post-lengthening types according to residual deformity. Complete correction was achieved in 26 tibias in the hexapodal group (50%) and 2 tibias in the monorail group (10%). Mean post-correction mechanical axis deviation was smaller in the hexapodal group: 12.83mm, versus 14.29mm in the monorail group. Mean post-correction mechanical lateral distal femoral angle was 87.5° in the hexapodal group, versus 84.3° in the monorail group (P=0.002), and mean mechanical medial proximal tibial angle 86.9° versus 89.5°, respectively (P=0.015). No previous studies focused on this congenital pathology in lengthening and axial correction programs for childhood lower-limb deformity. The present study found the hexapodal fixator to be more effective in conserving or restoring mechanical axes during progressive bone lengthening for fibular hypoplasia. The hexapodal fixator met the requirements of limb-length equalization in childhood congenital lower-limb hypoplasia, providing better axial correction than the monorail fixator. IV. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

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 p...

Multidirectional Vector Excision Leads to Better Outcomes than Traditional Elliptical Excision of Facial Congenital Melanocytic Nevus

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Seung Il Oh

2013-09-01

Full Text Available Background The elliptical excision is the standard method of removing benign skin lesions,such as congenital melanocytic nevi. This technique allows for primary closure, with little to nodog-ear deformity, but may sacrifice normal tissue adjacent to the lesion, resulting in scarswhich are unnecessarily long. This study was designed to compare the predicted results ofelliptical excision with those resulting from our excision technique.Methods Eighty-two patients with congenital melanocytic nevus on the face were prospectivelystudied. Each lesion was examined and an optimal ellipse was designed and marked onthe skin. After an incision on one side of the nevus margin, subcutaneous undermining wasperformed in the appropriate direction. The skin flap was pulled up and approximated alongseveral vectors to minimize the occurrence of dog-ear deformity.Results Overall, the final wound length was 21.1% shorter than that achieved by ellipticalexcision. Only 8.5% of the patients required dog-ear repair. There was no significant distortionof critical facial structures. All of the scars were deemed aesthetically acceptable based ontheir Patient and Observer Scar Assessment Scale scores.Conclusions When compared to elliptical excision, our technique appears to minimize dogeardeformity and decrease the final wound length. This technique should be considered analternative method for excision of facial nevi.

Sports Injury-Related Fingers and Thumb Deformity Due to Tendon or Ligament Rupture.

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Bai, Rong-Jie; Zhang, Hui-Bo; Zhan, Hui-Li; Qian, Zhan-Hua; Wang, Nai-Li; Liu, Yue; Li, Wen-Ting; Yin, Yu-Ming

2018-05-05

Hand injuries are very common in sports, such as skiing and ball sports. One of the major reasons causing hand and finger deformity is due to ligament and tendon injury. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) can demonstrate the complex anatomy of the fingers and thumb, especially the tendons and ligaments, and provide the accurate diagnosis of clinically important fingers and thumbs deformity due to ligamentous and tendinous injuries during sport activities. Sixteen fresh un-embalmed cadaveric hands were harvested from eight cadavers. A total of 20 healthy volunteers' hands and 44 patients with fingers or thumb deformity due to sports-related injuries were included in this study. All subjects had MR examination with T1-weighted images and proton density-weighted imaging with fat suppression (PD FS) in axial, coronal, and sagittal plane, respectively. Subsequently, all 16 cadaveric hands were sliced into 2-mm thick slab with a band saw (six in coronal plane, six in sagittal plane, and four in axial plane). The correlation of anatomic sections and the MRI characteristics of tendons of fingers and the ulnar collateral ligament (UCL) at the metacarpal phalangeal joint (MCPJ) of thumb between 20 healthy volunteers and 44 patients (confirmed by surgery) were analyzed. The normal ligaments and tendons in 16 cadaveric hands and 20 volunteers' hands showed uniform low-signal intensity on all the sequences of the MRI. Among 44 patients with tendinous and ligamentous injuries in the fingers or thumb, 12 cases with UCL injury at MCPJ of the thumb (Stener lesion = 8 and non-Stener lesion = 4), 6 cases with the central slip injury, 12 cases with terminal tendon injury, and 14 cases with flexor digitorum profundus injury. The ligaments and tendons disruption manifested as increased signal intensity and poor definition, discontinuity, and heterogeneous signal intensity of the involved ligaments and tendons. Sports

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

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Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Beals syndrome (congenital contractural arachnodactyly in children: Clinical symptoms, diagnosis, treatment, and prevention

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A. N. Semyachkina

2016-01-01

Full Text Available The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and Marfan syndrome (FBN1 gene mutation, which is associated with the almost complete identity of two proteins: fibrillin 1 and fibrillin 2.The paper describes a clinical case of a child with Beals syndrome and the typical manifestations of the disease: asthenic constitution, arachnodactyly of the hands and feet, congenital contractures of the large and small joints, chest deformity, kyphoscoliosis, talpes, and crushed ears. The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. DNA diagnosis verified the Beals syndrome in the proband. Exon 28 in the FBN2 gene showed the previously undescribed missense mutation of c.3719G>A, resulting in the amino acid substitution of cysteine for tyrosine (p.Cys1240Tyr in the structure of the protein fibrillin 2. A de novo mutation occurred. There is evidence for its pathogenicity in the development of the clinical symptoms of the disease. The problems of effective medical genetic counseling in this family are discussed. 

Key aspects congenital infection

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Yu. V. Lobzin

2014-01-01

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

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...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

Congenital heart disease

Science.gov (United States)

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

"Just-In-Time" Simulation Training Using 3-D Printed Cardiac Models After Congenital Cardiac Surgery.

Science.gov (United States)

Olivieri, Laura J; Su, Lillian; Hynes, Conor F; Krieger, Axel; Alfares, Fahad A; Ramakrishnan, Karthik; Zurakowski, David; Marshall, M Blair; Kim, Peter C W; Jonas, Richard A; Nath, Dilip S

2016-03-01

High-fidelity simulation using patient-specific three-dimensional (3D) models may be effective in facilitating pediatric cardiac intensive care unit (PCICU) provider training for clinical management of congenital cardiac surgery patients. The 3D-printed heart models were rendered from preoperative cross-sectional cardiac imaging for 10 patients undergoing congenital cardiac surgery. Immediately following surgical repair, a congenital cardiac surgeon and an intensive care physician conducted a simulation training session regarding postoperative care utilizing the patient-specific 3D model for the PCICU team. After the simulation, Likert-type 0 to 10 scale questionnaire assessed participant perception of impact of the training session. Seventy clinicians participated in training sessions, including 22 physicians, 38 nurses, and 10 ancillary care providers. Average response to whether 3D models were more helpful than standard hand off was 8.4 of 10. Questions regarding enhancement of understanding and clinical ability received average responses of 9.0 or greater, and 90% of participants scored 8 of 10 or higher. Nurses scored significantly higher than other clinicians on self-reported familiarity with the surgery (7.1 vs. 5.8; P = .04), clinical management ability (8.6 vs. 7.7; P = .02), and ability enhancement (9.5 vs. 8.7; P = .02). Compared to physicians, nurses and ancillary providers were more likely to consider 3D models more helpful than standard hand off (8.7 vs. 7.7; P = .05). Higher case complexity predicted greater enhancement of understanding of surgery (P = .04). The 3D heart models can be used to enhance congenital cardiac critical care via simulation training of multidisciplinary intensive care teams. Benefit may be dependent on provider type and case complexity. © The Author(s) 2016.

Genetics Home Reference: congenital hypothyroidism

Science.gov (United States)

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

[Neonatal tumours and congenital malformations].

Science.gov (United States)

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Congenital pseudarthrosis of lower leg treated by almost outdated method: Case report

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Vukašinović Zoran

2014-01-01

Full Text Available Introduction. Congenital pseudarthrosis of tibia is a rare congenital deformity with progressive evolution. Treatment is vague and difficult, and many methods have been used - from once mandatory early amputation to contemporary operative (Ilizarov method, free microvascular fibular graft and adjuvant methods (electrostimulation, biphosphonates, bone morphogenetic protein. We present the usage of once popular method of homologous graft insertion and intramedullary fixation. Case Outline. This is a case report of male patient with pseudarthrosis involving both crural bones (Boyd type 5, diagnosed in neonatal age. Early conservative treatment was unsuccessful, so child never initiated gait. At the age of three and a half years, operative treatment was applied: resection of pseudarthrosis on both tibia and fibula, and osteoplasty of tibia using cylindric homologous graft and intramedullary fixation with transtarsal Steinman pin, followed by long leg cast immobilization. Pin was removed after ten months, and physical therapy was initiated 1.5 year after surgery, with initial to partial weight bearing and short leg cast throughout another year. Two and a half years after surgery complete union of graft was documented, and then full weight bearing was allowed. At final visit, five years and three months after surgery, shin axis was correct, leg lengths were equal, and child had normal walk with full range of motion. X-ray showed complete union of both tibia and fibula. Conclusion. Despite bad prognostic factors (young age, severe deformity, utilization of obsolete and almost forgotten treatment methods can provide excellent result. [Projekat Ministarstva nauke Republike Srbije, br. III 41004

Congenital heat disease

International Nuclear Information System (INIS)

Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

Comparison of short-term and long-term outcomes of spinal fusion with and without posterior instrumentation in congenital scoliosis

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Behtash H.

2007-10-01

Full Text Available Background: Congenital scoliosis is a developmental disorder defined as a lateral curvature of the spine. Its progressive trend and complications, such as cosmetic problems, pain and pulmonary symptoms, have put scoliosis as an important skeletal deformity that should be corrected. One of the currently accepted methods of treatment is posterior spinal fusion (PSF that may be performed with or without instrumentation. However, the use of implants in conjunction with PSF in congenital spine deformity has been debated over the past three decades primarily because of increased risk of neurological deficit and implant displacement. The aim of this study was to compare short-term and long-term outcomes of spinal fusion with and without posterior instrumentation in congenital scoliosis.Methods: In this historical cohort study, 41 patients with congenital scoliosis were recruited. All patients underwent PSF surgery between 1977 and 1996. They were divided into two groups according to the use of instrumentation: 22 congenital scoliotic patients who were treated by PSF without any instrumentation (group A, and 19 instrumented PSF patients (group B. Instrumentation was mostly performed using the Harrington rod. The major curve angle was measured before surgery, two weeks and one year after PSF surgery and at the end of the follow-up period. Results: The mean baseline curve angles were 66.3° and 69.1° in groups A and B, respectively. The mean Cobb angles one year after PSF were 43.1° and 38.4° in groups A and B, respectively. The mean follow-up period was 8 years (SD=3 and, at the end of this period, the final Cobb angles were 47.3° and 39.4° in groups A and B, respectively. Therefore, the final angle correction was 28.7% in patients without instrumentation and 43% in patients with instrumentation. The mean loss of correction was 5.5% and 4.3% in groups A and B, respectively. The final curve angles was significantly more corrected for those patients

Congenital orbital teratoma.

Science.gov (United States)

Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

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.

Congenital orbital teratoma

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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.

Mondini deformity in a case of Turner syndrome. A radiological finding.

Science.gov (United States)

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

2012-01-01

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

Science.gov (United States)

Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Prevalence of congenital amusia.

Science.gov (United States)

Peretz, Isabelle; Vuvan, Dominique T

2017-05-01

Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

All Madelung deformities are not endocrine.

Science.gov (United States)

Kumar, Ajay; Rai, Gopal K; Akhtar, Javed; Phillip, Rajeev; Gutch, Manish; Arya, T V S

2013-10-01

Madelung deformity is a rare inherited disorder associated with endocrine disorders like Turner's syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD) and Langers mesomelic dysplasia. It has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis (MPS) and achondroplasia. Madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna. A 13-year-old girl was referred to us for evaluation of bilateral deformity of wrist and short stature. There was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness. On X-ray, wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of Madelung deformity. X-ray spine was normal. Ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone. Luteinizing hormone was normal and so was urine MPS screening. Based on the above points the diagnosis of LWD was made.

All Madelung deformities are not endocrine

Directory of Open Access Journals (Sweden)

Ajay Kumar

2013-01-01

Full Text Available Madelung deformity is a rare inherited disorder associated with endocrine disorders like Turner′s syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD and Langers mesomelic dysplasia. It has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis (MPS and achondroplasia. Madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna. A 13-year-old girl was referred to us for evaluation of bilateral deformity of wrist and short stature. There was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness. On X-ray, wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of Madelung deformity. X-ray spine was normal. Ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone. Luteinizing hormone was normal and so was urine MPS screening. Based on the above points the diagnosis of LWD was made.

Automatic Generation of 3D Caricatures Based on Artistic Deformation Styles.

Science.gov (United States)

Clarke, Lyndsey; Chen, Min; Mora, Benjamin

2011-06-01

Caricatures are a form of humorous visual art, usually created by skilled artists for the intention of amusement and entertainment. In this paper, we present a novel approach for automatic generation of digital caricatures from facial photographs, which capture artistic deformation styles from hand-drawn caricatures. We introduced a pseudo stress-strain model to encode the parameters of an artistic deformation style using "virtual" physical and material properties. We have also developed a software system for performing the caricaturistic deformation in 3D which eliminates the undesirable artifacts in 2D caricaturization. We employed a Multilevel Free-Form Deformation (MFFD) technique to optimize a 3D head model reconstructed from an input facial photograph, and for controlling the caricaturistic deformation. Our results demonstrated the effectiveness and usability of the proposed approach, which allows ordinary users to apply the captured and stored deformation styles to a variety of facial photographs.

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

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)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

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Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Congenital Heart Defects and CCHD

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... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Posterior all-pedicle screw instrumentation combined with multiple chevron and concave rib osteotomies in the treatment of adolescent congenital kyphoscoliosis.

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Ayvaz, Mehmet; Olgun, Z Deniz; Demirkiran, H Gokhan; Alanay, Ahmet; Yazici, Muharrem

2014-01-01

Congenital kyphoscoliosis is a disorder that often requires surgical treatment. Although many methods of surgical treatment exist, posterior-only vertebral column resection with instrumentation and fusion seem to have become the gold standard for very severe and very rigid curves. Multiple chevron and concave rib osteotomies have been previously reported to be effective in the treatment of neglected severe idiopathic curves. We hypothesized that this method may also be used successfully in the treatment of congenital kyphoscoliosis. To evaluate the effectiveness and safety of multiple chevron osteotomies combined with concave rib osteotomy and posterior pedicle screw instrumentation. Retrospective chart review in the spine service of a large university hospital. Adolescent patients undergoing a specific surgical treatment for the indication of rigid congenital kyphoscoliotic deformity. Radiographic images were used for the measurement of deformity correction. The Turkish version of the Scoliosis Research Society 22 (SRS-22) Patient Questionnaire has been used as a clinical outcome measure in the patient population. A retrospective chart review was performed. Patients admitted to Hacettepe Hospital Spine Center during the period of 2005 to 2009 were included. Criteria for inclusion were as follows: adolescent age group (10-16 years); congenital kyphoscoliosis; formation and/or segmentation defect of at least two vertebral motion segments; surgical treatment of deformity by posterior all-pedicle screw instrumentation, multiple chevron osteotomies, and multiple concave rib osteotomies; follow-up of at least 24 months; and a complete set of preoperative, postoperative, and follow-up standing posteroanterior and lateral full spinal radiographs. The patients' hospital records and X-rays were reviewed. Duration of surgery, intraoperative blood loss, postoperative transfusion requirements, postoperative stay in postanesthesia care unit (PACU), time of hospitalization, and

Congenital amusias.

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Tillmann, B; Albouy, P; Caclin, A

2015-01-01

In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

A case of severe and rigid congenital thoracolumbar lordoscoliosis with diastematomyelia presenting with type 2 respiratory failure: managed by staged correction with controlled axial traction.

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Kanagaraju, Vijayanth; Chhabra, H S; Srivastava, Abhishek; Mahajan, Rajat; Kaul, Rahul; Bhatia, Pallav; Tandon, Vikas; Nanda, Ankur; Sangondimath, Gururaj; Patel, Nishit

2016-10-01

Congenital lordoscoliosis is an uncommon pathology and its management poses formidable challenge especially in the presence of type 2 respiratory failure and intraspinal anomalies. In such patients standard management protocols are not applicable and may require multistage procedure to minimize risk and optimize results. A 15-year-old girl presented in our hospital emergency services with severe breathing difficulty. She had a severe and rapidly progressing deformity in her back, noted since 6 years of age, associated with severe respiratory distress requiring oxygen and BiPAP support. She was diagnosed to have a severe and rigid congenital right thoracolumbar lordoscoliosis (coronal Cobb's angle: 105° and thoracic lordosis -10°) with type 1 split cord malformation with bony septum extending from T11 to L3. This leads to presentation of restrictive lung disease with type 2 respiratory failure. As her lung condition did not allow for any major procedure, we did a staged procedure rather than executing in a single stage. Controlled axial traction by halogravity was applied initially followed by halo-femoral traction. Four weeks later, this was replaced by halo-pelvic distraction device after a posterior release procedure with asymmetric pedicle substraction osteotomies at T7 and T10. Halo-pelvic distraction continued for 4 more weeks to optimize and correct the deformity. Subsequently definitive posterior stabilization and fusion was done. The detrimental effect of diastematomyelia resection in such cases is clearly evident from literature, so it was left unresected. A good scoliotic correction with improved respiratory function was achieved. Three years follow-up showed no loss of deformity correction, no evidence of pseudarthrosis and a good clinical outcome with reasonably balanced spine. The management of severe and rigid congenital lordoscoliotic deformities with intraspinal anomalies is challenging. Progressive reduction in respiratory volume in untreated

Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

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Samuel Bloor

2017-01-01

Full Text Available B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height G in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

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Melo, Adriana Suely de Oliveira; Aguiar, Renato Santana; Amorim, Melania Maria Ramos; Arruda, Monica B; Melo, Fabiana de Oliveira; Ribeiro, Suelem Taís Clementino; Batista, Alba Gean Medeiros; Ferreira, Thales; Dos Santos, Mayra Pereira; Sampaio, Virgínia Vilar; Moura, Sarah Rogéria Martins; Rabello, Luciana Portela; Gonzaga, Clarissa Emanuelle; Malinger, Gustavo; Ximenes, Renato; de Oliveira-Szejnfeld, Patricia Soares; Tovar-Moll, Fernanda; Chimelli, Leila; Silveira, Paola Paz; Delvechio, Rodrigo; Higa, Luiza; Campanati, Loraine; Nogueira, Rita M R; Filippis, Ana Maria Bispo; Szejnfeld, Jacob; Voloch, Carolina Moreira; Ferreira, Orlando C; Brindeiro, Rodrigo M; Tanuri, Amilcar

2016-12-01

Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. Description of the major lesions caused by ZIKV congenital infection. Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and

Congenital malaria in China.

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Zhi-Yong Tao

2014-03-01

Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

[Identification of risk factors for congenital malformations].

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Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Congenital platelet function defects

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... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

General Concepts in Adult Congenital Heart Disease.

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Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

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Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

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Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

Accelerating dewetting on deformable substrates by adding a liquid underlayer.

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Xu, Lin; Reiter, Günter; Shi, Tongfei; An, Lijia

2010-05-18

We investigated the dependence of the dewetting velocity of a thin, low-viscosity polystyrene (PS) top film on a poly(methyl methacrylate) (PMMA) double layer consisting of a low-viscosity underlayer of thickness h(L) coated with a high-viscosity middle layer of thickness h(M). The addition of the liquid underlayer generated complex nonmonotonic behavior of the dewetting velocity as a function of increasing h(M). In particular, we observed an acceleration of dewetting for an intermediate range of h(M). This phenomenon has been interpreted by a combination deformation of the middle elastic layer and a concurrent change in the contact angle. On one hand, deformation led to the formation of a trench that dissipated energy during its movement through the liquid underlayer and thus caused a slowing down of dewetting. However, with an increase in the thickness of the elastic middle layer, the size of the trench decreased and its influence on the dewetting velocity also decreased. On the other hand, the deformation of the elastic layer also led to an increase in the contact angle. This increase in the driving capillary forces caused an increase in the dewetting velocity.

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

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Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Deformation of two-phase aggregates using standard numerical methods

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Duretz, Thibault; Yamato, Philippe; Schmalholz, Stefan M.

2013-04-01

Geodynamic problems often involve the large deformation of material encompassing material boundaries. In geophysical fluids, such boundaries often coincide with a discontinuity in the viscosity (or effective viscosity) field and subsequently in the pressure field. Here, we employ popular implementations of the finite difference and finite element methods for solving viscous flow problems. On one hand, we implemented finite difference method coupled with a Lagrangian marker-in-cell technique to represent the deforming fluid. Thanks to it Eulerian nature, this method has a limited geometric flexibility but is characterized by a light and stable discretization. On the other hand, we employ the Lagrangian finite element method which offers full geometric flexibility at the cost of relatively heavier discretization. In order to test the accuracy of the finite difference scheme, we ran large strain simple shear deformation of aggregates containing either weak of strong circular inclusion (1e6 viscosity ratio). The results, obtained for different grid resolutions, are compared to Lagrangian finite element results which are considered as reference solution. The comparison is then used to establish up to which strain can finite difference simulations be run given the nature of the inclusions (dimensions, viscosity) and the resolution of the Eulerian mesh.

Congenital Heart Information Network

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... 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 © ...

Congenital insensitivity to pain and anhidrosis: A case report from South India

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Carounanidy Udayashankar

2012-01-01

Full Text Available Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, mental retardation, and self-mutilating behavior. It is an extremely rare disorder with only a handful of reports from India. A five- year- old boy, born to second-degree consanguineous parents after uneventful antenatal period, presented to us with history of recurrent unexplained fever, recurrent ulcers in the lower limbs, insensitivity to painful stimuli (like injections, vaccination and self-mutilating behavior from early childhood. Cutaneous examination showed multiple ulcers, loss of teeth, loss of tip of the tongue (due to biting, scarring of finger tips, xerosis and lichenification. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Deep tendon reflexes were normal. Evaluation for Hansen′s disease was non-contributory. An intradermal injection of histamine did not show any flare response. Based on clinical as well as compatible histological features a diagnosis of congenital insensitivity to pain with anhidrosis was made. The ulcers were treated with appropriate antibiotics and daily dressings. The parents were counseled about appropriate care of the child.

Congenital scoliosis associated with agenesis of the uterine cervix. Case report

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Monica Matteo

2004-06-01

Full Text Available Abstract Background Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly. Case presentation A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet, came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. Conclusion We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis. This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected.

Early detection of congenital syphilis

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Nagalakshmi Chowdhary

2014-01-01

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

Genetics Home Reference: critical congenital heart disease

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... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Illumination-Invariant and Deformation-Tolerant Inner Knuckle Print Recognition Using Portable Devices

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Xuemiao Xu

2015-02-01

Full Text Available We propose a novel biometric recognition method that identifies the inner knuckle print (IKP. It is robust enough to confront uncontrolled lighting conditions, pose variations and low imaging quality. Such robustness is crucial for its application on portable devices equipped with consumer-level cameras. We achieve this robustness by two means. First, we propose a novel feature extraction scheme that highlights the salient structure and suppresses incorrect and/or unwanted features. The extracted IKP features retain simple geometry and morphology and reduce the interference of illumination. Second, to counteract the deformation induced by different hand orientations, we propose a novel structure-context descriptor based on local statistics. To our best knowledge, we are the first to simultaneously consider the illumination invariance and deformation tolerance for appearance-based low-resolution hand biometrics. Settings in previous works are more restrictive. They made strong assumptions either about the illumination condition or the restrictive hand orientation. Extensive experiments demonstrate that our method outperforms the state-of-the-art methods in terms of recognition accuracy, especially under uncontrolled lighting conditions and the flexible hand orientation requirement.

Task demands affect spatial reference frame weighting during tactile localization in sighted and congenitally blind adults.

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Jonathan T W Schubert

Full Text Available Task demands modulate tactile localization in sighted humans, presumably through weight adjustments in the spatial integration of anatomical, skin-based, and external, posture-based information. In contrast, previous studies have suggested that congenitally blind humans, by default, refrain from automatic spatial integration and localize touch using only skin-based information. Here, sighted and congenitally blind participants localized tactile targets on the palm or back of one hand, while ignoring simultaneous tactile distractors at congruent or incongruent locations on the other hand. We probed the interplay of anatomical and external location codes for spatial congruency effects by varying hand posture: the palms either both faced down, or one faced down and one up. In the latter posture, externally congruent target and distractor locations were anatomically incongruent and vice versa. Target locations had to be reported either anatomically ("palm" or "back" of the hand, or externally ("up" or "down" in space. Under anatomical instructions, performance was more accurate for anatomically congruent than incongruent target-distractor pairs. In contrast, under external instructions, performance was more accurate for externally congruent than incongruent pairs. These modulations were evident in sighted and blind individuals. Notably, distractor effects were overall far smaller in blind than in sighted participants, despite comparable target-distractor identification performance. Thus, the absence of developmental vision seems to be associated with an increased ability to focus tactile attention towards a non-spatially defined target. Nevertheless, that blind individuals exhibited effects of hand posture and task instructions in their congruency effects suggests that, like the sighted, they automatically integrate anatomical and external information during tactile localization. Moreover, spatial integration in tactile processing is, thus, flexibly

Task demands affect spatial reference frame weighting during tactile localization in sighted and congenitally blind adults.

Science.gov (United States)

Schubert, Jonathan T W; Badde, Stephanie; Röder, Brigitte; Heed, Tobias

2017-01-01

Task demands modulate tactile localization in sighted humans, presumably through weight adjustments in the spatial integration of anatomical, skin-based, and external, posture-based information. In contrast, previous studies have suggested that congenitally blind humans, by default, refrain from automatic spatial integration and localize touch using only skin-based information. Here, sighted and congenitally blind participants localized tactile targets on the palm or back of one hand, while ignoring simultaneous tactile distractors at congruent or incongruent locations on the other hand. We probed the interplay of anatomical and external location codes for spatial congruency effects by varying hand posture: the palms either both faced down, or one faced down and one up. In the latter posture, externally congruent target and distractor locations were anatomically incongruent and vice versa. Target locations had to be reported either anatomically ("palm" or "back" of the hand), or externally ("up" or "down" in space). Under anatomical instructions, performance was more accurate for anatomically congruent than incongruent target-distractor pairs. In contrast, under external instructions, performance was more accurate for externally congruent than incongruent pairs. These modulations were evident in sighted and blind individuals. Notably, distractor effects were overall far smaller in blind than in sighted participants, despite comparable target-distractor identification performance. Thus, the absence of developmental vision seems to be associated with an increased ability to focus tactile attention towards a non-spatially defined target. Nevertheless, that blind individuals exhibited effects of hand posture and task instructions in their congruency effects suggests that, like the sighted, they automatically integrate anatomical and external information during tactile localization. Moreover, spatial integration in tactile processing is, thus, flexibly adapted by top

Numerical study of suspensions of deformable particles.

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Brandt, Luca; Rosti, Marco Edoardo

2017-11-01

We consider a model non-Newtonian fluid consisting of a suspension of deformable particles in a Newtonian solvent. Einstein showed in his pioneering work that the relative increase in effective viscosity is a linear function of the particle volume fraction for dilute suspensions of rigid particles. Inertia has been shown to introduce deviations from the behaviour predicted by the different empirical fits, an effect that can be related to an increase of the effective volume fraction. We here focus on the effect of elasticity, i.e. visco-elastic deformable particles. To tackle the problem at hand, we perform three-dimensional Direct Numerical Simulation of a plane Couette flow with a suspension of neutrally buoyant deformable viscous hyper-elastic particles. We show that elasticity produces a shear-thinning effect in elastic suspensions (in comparison to rigid ones) and that it can be understood in terms of a reduction of the effective volume fraction of the suspension. The deformation modifies the particle motion reducing the level of mutual interaction. Normal stress differences will also be considered. European Research Council, Grant No. ERC-2013-CoG- 616186, TRITOS; SNIC (the Swedish National Infrastructure for Computing).

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Congenital inner ear malformations without sensorineural hearing loss.

Science.gov (United States)

Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

2008-03-01

It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

Modelling and Simulation of Structural Deformation of Isothermal Subsurface Flow and Carbon Dioxide Injection

KAUST Repository

El-Amin, Mohamed

2011-05-15

Injection of CO2 in hydrocarbon reservoir has double benefit. On the one hand, it is a profitable method due to issues related to global warming, and on the other hand it is an effective mechanism to enhance hydrocarbon recovery. Such injection associates complex processes involving, e.g., solute transport of dissolved materials, in addition to local changes in density of the phases. Also, increasing carbon dioxide injection may cause a structural deformation of the medium, so it is important to include such effect into the model. The structural deformation modelling in carbon sequestration is important to evaluate the medium stability to avoid CO2 leakage to the atmosphere. On the other hand, geologic formation of the medium is usually heterogeneous and consists of several layers of different permeability. In this work we conduct numerical simulation of two-phase flow in a heterogeneous porous medium domain with dissolved solute transport as well as structural deformation effects. The solute transport of the dissolved component is described by concentration equation. The structural deformation for geomechanics is derived from a general local differential balance equation with neglecting the local mass balance of solid phase and the inertial force term. The flux continuity condition is used at interfaces between different permeability layers of the heterogeneous medium. We analyze the vertical migration of a CO2 plume injected into a 2D layered reservoir. Analysis of distribution of flow field components such as saturation, pressures, velocities, and CO2 concentration are presented.

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

Congenital unilateral absence of the upper extremity may give rise to a specific kind of thoracolumbar curve.

Science.gov (United States)

Olgun, Z Deniz; Demirkiran, Gokhan; Polly, David; Yazici, Muharrem

2018-03-01

There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side. The combination of upper limb absence and same-sided scoliosis in these patients may provide a clue of the mechanical factors causing scoliosis in other disorders. In this article, we attempt to define this exceptional deformity, theorize on its etiology, and draw attention to this particular combination of problems. Case series; Level IV.

Mal de meleda with congenital cataract: A novel case report

Directory of Open Access Journals (Sweden)

Anisha Sethi

2015-01-01

Full Text Available Mal de meleda (MdM, a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens and extend to the dorsal aspects of the hands and feet (transgrediens. It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.

Alloy-dependent deformation behavior of highly ductile nanocrystalline AuCu thin films

International Nuclear Information System (INIS)

Lohmiller, Jochen; Spolenak, Ralph; Gruber, Patric A.

2014-01-01

Nanocrystalline thin films on compliant substrates become increasingly important for the development of flexible electronic devices. In this study, nanocrystalline AuCu thin films on polyimide substrate were tested in tension while using a synchrotron-based in situ testing technique. Analysis of X-ray diffraction profiles allowed identifying the underlying deformation mechanisms. Initially, elastic and microplastic deformation is observed, followed by dislocation-mediated shear band formation, and eventually macroscopic crack formation. Particularly the influence of alloy composition, heat-treatment, and test temperature were investigated. Generally, a highly ductile behavior is observed. However, high Cu concentrations, annealing, and/or large plastic strains lead to localized deformation and hence reduced ductility. On the other hand, enhanced test temperature allows for a delocalized deformation and extended ductility

Alloy-dependent deformation behavior of highly ductile nanocrystalline AuCu thin films

Energy Technology Data Exchange (ETDEWEB)

Lohmiller, Jochen [Karlsruhe Institute of Technology, Institute for Applied Materials, P.O. Box 3640, 76021 Karlsruhe (Germany); Laboratory for Nanometallurgy, Department of Materials, ETH Zurich, Wolfgang-Pauli-Str. 10, 8093 Zurich (Switzerland); Spolenak, Ralph [Laboratory for Nanometallurgy, Department of Materials, ETH Zurich, Wolfgang-Pauli-Str. 10, 8093 Zurich (Switzerland); Gruber, Patric A., E-mail: patric.gruber@kit.edu [Karlsruhe Institute of Technology, Institute for Applied Materials, P.O. Box 3640, 76021 Karlsruhe (Germany)

2014-02-10

Nanocrystalline thin films on compliant substrates become increasingly important for the development of flexible electronic devices. In this study, nanocrystalline AuCu thin films on polyimide substrate were tested in tension while using a synchrotron-based in situ testing technique. Analysis of X-ray diffraction profiles allowed identifying the underlying deformation mechanisms. Initially, elastic and microplastic deformation is observed, followed by dislocation-mediated shear band formation, and eventually macroscopic crack formation. Particularly the influence of alloy composition, heat-treatment, and test temperature were investigated. Generally, a highly ductile behavior is observed. However, high Cu concentrations, annealing, and/or large plastic strains lead to localized deformation and hence reduced ductility. On the other hand, enhanced test temperature allows for a delocalized deformation and extended ductility.

Congenital chylous ascites

International Nuclear Information System (INIS)

Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

2011-01-01

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. (authors)

Deformations of super Riemann surfaces

International Nuclear Information System (INIS)

Ninnemann, H.

1992-01-01

Two different approaches to (Konstant-Leites-) super Riemann surfaces are investigated. In the local approach, i.e. glueing open superdomains by superconformal transition functions, deformations of the superconformal structure are discussed. On the other hand, the representation of compact super Riemann surfaces of genus greater than one as a fundamental domain in the Poincare upper half-plane provides a simple description of super Laplace operators acting on automorphic p-forms. Considering purely odd deformations of super Riemann surfaces, the number of linear independent holomorphic sections of arbitrary holomorphic line bundles will be shown to be independent of the odd moduli, leading to a simple proof of the Riemann-Roch theorem for compact super Riemann surfaces. As a further consequence, the explicit connections between determinants of super Laplacians and Selberg's super zeta functions can be determined, allowing to calculate at least the 2-loop contribution to the fermionic string partition function. (orig.)

Deformations of super Riemann surfaces

Energy Technology Data Exchange (ETDEWEB)

Ninnemann, H [Hamburg Univ. (Germany). 2. Inst. fuer Theoretische Physik

1992-11-01

Two different approaches to (Konstant-Leites-) super Riemann surfaces are investigated. In the local approach, i.e. glueing open superdomains by superconformal transition functions, deformations of the superconformal structure are discussed. On the other hand, the representation of compact super Riemann surfaces of genus greater than one as a fundamental domain in the Poincare upper half-plane provides a simple description of super Laplace operators acting on automorphic p-forms. Considering purely odd deformations of super Riemann surfaces, the number of linear independent holomorphic sections of arbitrary holomorphic line bundles will be shown to be independent of the odd moduli, leading to a simple proof of the Riemann-Roch theorem for compact super Riemann surfaces. As a further consequence, the explicit connections between determinants of super Laplacians and Selberg's super zeta functions can be determined, allowing to calculate at least the 2-loop contribution to the fermionic string partition function. (orig.).

The phenotypic spectrum of congenital Zika syndrome.

Science.gov (United States)

Del Campo, Miguel; Feitosa, Ian M L; Ribeiro, Erlane M; Horovitz, Dafne D G; Pessoa, André L S; França, Giovanny V A; García-Alix, Alfredo; Doriqui, Maria J R; Wanderley, Hector Y C; Sanseverino, Maria V T; Neri, João I C F; Pina-Neto, João M; Santos, Emerson S; Verçosa, Islane; Cernach, Mirlene C S P; Medeiros, Paula F V; Kerbage, Saile C; Silva, André A; van der Linden, Vanessa; Martelli, Celina M T; Cordeiro, Marli T; Dhalia, Rafael; Vianna, Fernanda S L; Victora, Cesar G; Cavalcanti, Denise P; Schuler-Faccini, Lavinia

2017-04-01

In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF. A recognizable phenotype of microcephaly, anomalies of the shape of skull and redundancy of the scalp consistent with the Fetal Brain Disruption Sequence (FBDS) was present in 70% of infants, but was most often subtle. In addition, features consistent with fetal immobility, ranging from dimples (30.1%), distal hand/finger contractures (20.5%), and feet malpositions (15.7%), to generalized arthrogryposis (9.6%), were present in these infants. Some cases had milder microcephaly or even a normal head circumference (HC), and other less distinctive findings. The detailed observation of the dysmorphic and neurologic features in these infants provides insight into the mechanisms and timings of the brain disruption and the sequence of developmental anomalies that may occur after prenatal infection by the ZIKV. © 2017 Wiley Periodicals, Inc.

Risk factors predisposing to congenital heart defects

International Nuclear Information System (INIS)

Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

2011-01-01

Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

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

ALGORITHM OF TREATMENT OF CONGENITAL CLUBFOOT IN CHILDREN OF YOUNGER AGE GROUP

Directory of Open Access Journals (Sweden)

Irina Yurievna Klychkova

2013-03-01

Full Text Available Congenital clubfoot requires complete correction before the period of verticalization. Conservative methods are priority in treatment. The most effective method is Ponseti method that allows correcting all the deformations even in severe clubfoot. However, if clubfoot is accompanied with abnormal anatomy of foot or significant changes in functional ability of muscles, operative treatment is inevitable. The extent of surgical intervention depends on the severity of detected abnormalities and is determined individually. The use of ultasound, radiographic, and CT investigations, according to indications, contributes to the diagnostics. The indication for surgery is the lack of effect of conservative treatment after 10-12 cast correction in children over the age of 4 months. Diagnostic criteria for deciding in favor of surgery are: availability of fibrous coalition, the deformation of the talar or the sphenoid bone, the anomaly in the point of attachment of the tendon of the tibialis anterior muscle, lack of the repositioning of navicular bone on the talar head. Orthosis supply and rehabilitation treatment depend on the extent of surgical intervention.

Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.

Science.gov (United States)

Al Kaissi, Ali; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

2014-01-01

Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD) inheritance of the bilateral tibial aplasia and split hand-foot syndrome. Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting. This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.

Radiographic findings of the hand and foot in patients with systemic lupus erythematosus

International Nuclear Information System (INIS)

Scutellari, P.N.; Stabellini, R.; Orzincolo, C.; Franceschini, F.; Govoni, M.; Trotta, F.

1987-01-01

A detail examination of the hands and feet was performed in a group of 34 patients affected by systemic lupus erythematosus (SLE), using low-dose mammographic film and Rank Xerox selenium plate, according to current diagnostic techniques. All patients presented articular symptoms (pain and arthralgia). The high incidence (38.8%) of patients with no radiographic evidence of bone damage-even though articular symptoms are present-is emphasized. In such cases, it is very difficult to distinguish SLE from rheumatoid arthritis, especially as far as therapeutic management and prognosis are concerned. The lack of any pathognomonic radiological sign of the lupus arthritis, in the hands as well as in the feet, is then stressed. Nevertheless, artropathy in SLE is defined as a deforming unerosive arthritis, with a typical symmetric distribution, affecting most commonly (according to incidence) the proximal interphalangeal and metacarpophalangeal joints. In the hand, arthropathy is referred to as Jaccoud's type arthritis, because it is characterized by joint deformities which can be corrected. In the foot, the main abnormalities include hallux valgus, subluxation of the matatarsophalangeal joints and widening of the forefoot

Radiographic findings of the hand and foot in patients with systemic lupus erythematosus

Energy Technology Data Exchange (ETDEWEB)

Scutellari, P N; Stabellini, R; Orzincolo, C; Franceschini, F; Govoni, M; Trotta, F

1987-01-01

A detail examination of the hands and feet was performed in a group of 34 patients affected by systemic lupus erythematosus (SLE), using low-dose mammographic film and Rank Xerox selenium plate, according to current diagnostic techniques. All patients presented articular symptoms (pain and arthralgia). The high incidence (38.8%) of patients with no radiographic evidence of bone damage-even though articular symptoms are present-is emphasized. In such cases, it is very difficult to distinguish SLE from rheumatoid arthritis, especially as far as therapeutic management and prognosis are concerned. The lack of any pathognomonic radiological sign of the lupus arthritis, in the hands as well as in the feet, is then stressed. Nevertheless, artropathy in SLE is defined as a deforming unerosive arthritis, with a typical symmetric distribution, affecting most commonly (according to incidence) the proximal interphalangeal and metacarpophalangeal joints. In the hand, arthropathy is referred to as Jaccoud's type arthritis, because it is characterized by joint deformities which can be corrected. In the foot, the main abnormalities include hallux valgus, subluxation of the matatarsophalangeal joints and widening of the forefoot.

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

Nuclear fuel deformation phenomena

International Nuclear Information System (INIS)

Van Brutzel, L.; Dingreville, R.; Bartel, T.J.

2015-01-01

Nuclear fuel encounters severe thermomechanical environments. Its mechanical response is profoundly influenced by an underlying heterogeneous microstructure but also inherently dependent on the temperature and stress level histories. The ability to adequately simulate the response of such microstructures, to elucidate the associated macroscopic response in such extreme environments is crucial for predicting both performance and transient fuel mechanical responses. This chapter discusses key physical phenomena and the status of current modelling techniques to evaluate and predict fuel deformations: creep, swelling, cracking and pellet-clad interaction. This chapter only deals with nuclear fuel; deformations of cladding materials are discussed elsewhere. An obvious need for a multi-physics and multi-scale approach to develop a fundamental understanding of properties of complex nuclear fuel materials is presented. The development of such advanced multi-scale mechanistic frameworks should include either an explicit (domain decomposition, homogenisation, etc.) or implicit (scaling laws, hand-shaking,...) linkage between the different time and length scales involved, in order to accurately predict the fuel thermomechanical response for a wide range of operating conditions and fuel types (including Gen-IV and TRU). (authors)

Habilitation of Patients with Congenital Malformations Associated with Thalidomide: Prosthetic Aspects

Science.gov (United States)

Gilpin, R. E.

1963-01-01

The types of prostheses available for treatment of congenital amputations in children, and the assistance in habilitation which can be expected from their use, are described in this communication. The limb deformities in children commonly associated with the drug thalidomide are phocomelia and amelia. Prosthetic treatment of these is difficult, but in almost every case some assistance can be offered. The degree of this assistance will depend to a large extent on (1) the number of limbs involved, (2) the site of the deformity, (3) the intellectual capacity of the child. These factors are evaluated by a clinic team, consisting of a prosthetist, a therapist, a social worker, and a doctor, who acts as the clinical chief. They are also embodied into a prescription for a prosthesis and into a program of management. Subsequently, the clinic team also carry out an assessment of the result. The prosthetist makes available his knowledge of present-day appliances, and assures that the way is left open for use of new, and perhaps revolutionary prostheses, in the future. ImagesFig. 1(a)-1(b)Fig. 2Fig. 3Fig. 4 PMID:13947980

Electric/magnetic deformations of S3 and AdS3, and geometric cosets

International Nuclear Information System (INIS)

Israel, D.; Kounnas, C.; Marios Petropoulos, P.; Orlando, D.

2005-01-01

We analyze asymmetric marginal deformations of SU(2) k and SL(2,R) k WZW models. These appear in heterotic string backgrounds with non-vanishing Neveu-Schwarz three-forms plus electric or magnetic fields, depending on whether the deformation is elliptic, hyperbolic or parabolic. Asymmetric deformations create new families of exact string vacua. The geometries which are generated in this way, deformed S 3 or AdS 3 , include in particular geometric cosets such as S 2 , AdS 2 or H 2 . Hence, the latter are consistent, exact conformal sigma models, with electric or magnetic backgrounds. We discuss various geometric and symmetry properties of the deformations at hand as well as their spectra and partition functions, with special attention to the supersymmetric AdS 2 x S 2 background. We also comment on potential holographic applications. (Abstract Copyright [2005], Wiley Periodicals, Inc.)

External auditory canal atresia of probable congenital origin in a dog.

Science.gov (United States)

Schmidt, K; Piaia, T; Bertolini, G; De Lorenzi, D

2007-04-01

A nine-month-old Labrador retriever was referred to the Clinica Veterinaria Privata San Marco because of frequent headshaking and downward turning of the right ear. Clinical examination revealed that there was no external acoustic meatus in the right ear. Computed tomography confirmed that the vertical part of the right auditory canal ended blindly, providing a diagnosis of external auditory canal atresia. Cytological examination and culture of fluid from the canal and the bulla revealed only aseptic cerumen; for this reason, it was assumed that the dog was probably affected by a congenital developmental deformity of the external auditory canal. Reconstructive surgery was performed using a "pull-through" technique. Four months after surgery the cosmetic and functional results were satisfactory.

Genetics Home Reference: congenital mirror movement disorder

Science.gov (United States)

... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter

Directory of Open Access Journals (Sweden)

Ali Al Kaissi

2014-01-01

Full Text Available Background: Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD inheritance of the bilateral tibial aplasia and split hand-foot syndrome. Materials and Methods: Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. Results: The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting. Conclusion: This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.

A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR: AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK?

Directory of Open Access Journals (Sweden)

Gurudutt S. Joshi

2017-10-01

Full Text Available A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations, revealed Corpus callosum hypoplasia and closely related features with two rare syndromes Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Hemivertebrae, Ear/Eye Anomalies, and Kidney Dysplasia (BRESHECK.

Ultra fine grained Ti prepared by severe plastic deformation

Science.gov (United States)

Lukáč, F.; Čížek, J.; Knapp, J.; Procházka, I.; Zháňal, P.; Islamgaliev, R. K.

2016-01-01

The positron annihilation spectroscopy was employed for characterisation of defects in pure Ti with ultra fine grained (UFG) structure. UFG Ti samples were prepared by two techniques based on severe plastic deformation (SPD): (i) high pressure torsion (HPT) and (ii) equal channel angular pressing (ECAP). Although HPT is the most efficient technique for grain refinement, the size of HPT-deformed specimens is limited. On the other hand, ECAP is less efficient in grain refinement but enables to produce larger samples more suitable for industrial applications. Characterisation of defects by positron annihilation spectroscopy was accompanied by hardness testing in order to monitor the development of mechanical properties of UFG Ti.

Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

Directory of Open Access Journals (Sweden)

Diana Bancin

2015-03-01

Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

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.

Nitrofurantoin and congenital abnormalities

DEFF Research Database (Denmark)

Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

2001-01-01

or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

The role of multi-detector CT angiography in surgical planning for congenital cervicothoracic kyphoscoliosis: a case report

Energy Technology Data Exchange (ETDEWEB)

Lee, Hyun; Choi, Won Gyu; Shin, Ho Dong; Hwang, Byeong Wook; Lee, Sang Jin; Lee, Sang Ho [Busan Wooridul Spine Hospital, Busan (Korea, Republic of)

2008-01-15

Surgical correction of a cervicothoracic deformity is difficult with a potential risk of vascular injury. Comprehensive preoperative vascular evaluation is important for safe and successful surgery. The use of multi-detector computed tomography angiography (MDCTA) allows a combined display of vascular and osseous structures of the musculoskeletal system. However, no clinical reports have described the use of MDCTA for surgical planning of anterior cervicothoracic surgery in patients with vascular malformation. The case of a 7-year-old girl with congenital cervicothoracic kyphoscoliosis who underwent preoperative MDCTA evaluation and successful correction is presented in this report.

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

Angiographic features of rapidly involuting congenital hemangioma (RICH)

Energy Technology Data Exchange (ETDEWEB)

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

2003-01-01

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

Congenital hearing impairment

Energy Technology Data Exchange (ETDEWEB)

Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

2006-04-15

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Congenital hearing impairment

International Nuclear Information System (INIS)

Robson, Caroline D.

2006-01-01

Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

Effect of deformations on the compactness of odd-Z superheavy nuclei formed in cold and hot fusion reactions

Science.gov (United States)

Kaur, Gurjit; Sandhu, Kirandeep; Sharma, Manoj K.

2018-03-01

Using the extended fragmentation theory, the compactness of hot and cold fusion reactions is analyzed for odd-Z nuclei ranging Z = 105- 117. The calculations for the present work are carried out at T = 0MeV and ℓ = 0 ħ, as the temperature and angular momentum effects remain silent while addressing the orientation degree of freedom (i.e. compact angle configuration). In the hot fusion, 48Ca (spherical) + actinide (prolate) reaction, the non-equatorial compact (nec) shape is obtained for Z = 113 nucleus. On the other hand, Z > 113 nuclei favor equatorial compact (ec) configuration. The distribution of barrier height (VB) illustrate that the ec-shape is obtained when the magnitude of quadrupole deformation of the nucleus is higher than the hexadecupole deformation. In other words, negligible or small -ve β4-deformations support ec configurations. On the other hand, large (+ve) magnitude of the β4-deformation suggests that the configuration appears for compact angle θc < 90 °, leading to nec structure. Similar deformation effects are observed for Bi-induced reactions, in which not belly-to-belly compact (nbbc) configurations are seen at θc = 42 °. In addition to the effect of β2 and β4-deformations, the exclusive role of octupole deformations (β3) is also analyzed. The β3-deformations do not follow the reflection symmetry as that of β2 and β4, leading to the possible occurrence of compact configuration within 0° to 180° angular range.

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

2013-01-01

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)

Congenital rubella syndrome and delayed manifestations

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2010-01-01

Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

Health in adults with congenital heart disease.

Science.gov (United States)

Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

2016-09-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

International Nuclear Information System (INIS)

Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

2013-01-01

Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

Audiophonological results after cochlear implantation in 40 congenitally deaf patients: preliminary results.

Science.gov (United States)

Loundon, N; Busquet, D; Roger, G; Moatti, L; Garabedian, E N

2000-11-30

The aim of this study is to evaluate the prognostic factors of audiophonological results in cochlear implant in congenitally deaf patients. Between 1991 and 1996. 40 congenitally deaf children underwent cochlear implantation in our department, at an average age of 7 years (median: 5 years). The results of speech therapy were evaluated with a mean follow-up of 2 years and were classified according to four criteria: perception of sound, speech perception, speech production and the level of oral language. For each criterion, a score was established ranging from zero to four. These scores were weighted according to age such that the results before and after implantation only reflected the changes related to the implantation. The prognostic factors for good results were: a good level of oral communication before implantation, residual hearing, progressive deafness and implantation at a young age. On the other hand, poor prognostic factors were: the presence of behavioral disorders and poor communication skills prior to implantation. Overall, the major prognostic factor for a good outcome appeared to be the preoperative level of oral language, even if this was rudimentary.

Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.

Science.gov (United States)

Bedoya, Maria A; Chauvin, Nancy A; Jaramillo, Diego; Davidson, Richard; Horn, B David; Ho-Fung, Victor

2015-01-01

Congenital lower limb shortening is a group of relatively rare, heterogeneous disorders. Proximal focal femoral deficiency (PFFD) and fibular hemimelia (FH) are the most common pathologic entities in this disease spectrum. PFFD is characterized by variable degrees of shortening or absence of the femoral head, with associated dysplasia of the acetabulum and femoral shaft. FH ranges from mild hypoplasia to complete absence of the fibula with variable shortening of the tibia. The development of the lower limb requires complex and precise gene interactions. Although the etiologies of PFFD and FH remain unknown, there is a strong association between the two disorders. Associated congenital defects in the lower extremity are found in more than 50% of patients with PFFD, ipsilateral FH being the most common. FH also has a strong association with shortening and bowing of the tibia and with foot deformities such as absence of the lateral rays of the foot. Early diagnosis and radiologic classification of these abnormalities are imperative for appropriate management and surgical planning. Plain radiography remains the main diagnostic imaging modality for both PFFD and FH, and appropriate description of the osseous abnormalities seen on radiographs allows accurate classification, prognostic evaluation, and surgical planning. Minor malformations may commonly be misdiagnosed. ©RSNA, 2015.

Vital endowments: Sir Charles Bell and the history of some congenital abnormalities of the upper limb.

Science.gov (United States)

Thurston, Alan

2011-12-01

Born in Edinburgh in 1774 Sir Charles Bell, as a young man, studied anatomy and surgery in his hometown. There followed a distinguished career that culminated in his becoming the first professor of Anatomy and Surgery at the College of Surgeons in London. Renowned as a brilliant neuroanatomist he was invited, on the advice of His Grace the Archbishop of Canterbury and the Bishop of London, to contribute one of eight volumes of a work on the Power Wisdom and Goodness of God as manifested in the Creation - known as the Bridgewater Treatises. 'The Hand its Mechanism and Vital Endowments as Evincing Design' was published in 1833 and it is an account of his considering the hand as a machine that has been engineered to exacting standards to interact with the environment in which we live. In it he expressed a deep understanding of the similarity of the structure of the upper limbs of the higher orders of animals. The similarity of the paddle of a turtle and a human hand with acrosymbrachydactyly is unmistakable. This congenital abnormality, given the eponymous title of Apert's syndrome, is one of a number of congenital abnormalities that have parallels in the animal kingdom. Others who have had similar syndromes named after them include Poland, Marfan, Streeter and a number of others. The life and times of these men and their contributions to medicine will be presented in this paper. © 2011 The Author. ANZ Journal of Surgery © 2011 Royal Australasian College of Surgeons.

Hip dysplasia and congenital hip dislocation

Energy Technology Data Exchange (ETDEWEB)

Lingg, G.; Nebel, G.; von Torklus, D.

1981-11-01

In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

OpenAIRE

Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

Congenital pseudarthrosis of the tibia: Management and complications

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Hitesh Shah

2012-01-01

Full Text Available Congenital pseudarthrosis of the tibia (CPT is a rare pathology, which is usually associated with neurofibromatosis type I. The natural history of the disease is extremely unfavorable and once a fracture occurs, there is a little or no tendency for the lesion to heal spontaneously. It is challenging to treat effectively this difficult condition and its possible complications. Treatment is mainly surgical and it aims to obtain a long term bone union, to prevent limb length discrepancies, to avoid mechanical axis deviation, soft tissue lesions, nearby joint stiffness, and pathological fracture. The key to get primary union is to excise hamartomatous tissue and pathological periosteum. Age at surgery, status of fibula, associated shortening, and deformities of leg and ankle play significant role in primary union and residual challenges after primary healing. Unfortunately, none of invasive and noninvasive methods have proven their superiority. Surgical options such as intramedullary nailing, vascularized fibula graft, and external fixator, have shown equivocal success rate in achieving primary union although they are often associated with acceptable results. Amputation must be reserved for failed reconstruction, severe limb length discrepancy and gross deformities of leg and ankle. Distinct advantages, complications, and limitation of each primary treatment as well as strategies to deal with potential complications have been described. Each child with CPT must be followed up till skeletal maturity to identify and rectify residual problems after primary healing.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

Science.gov (United States)

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Pseudoamblyopia in Congenital Cyclotropia

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Antonio Frattolillo

2017-01-01

Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

Congenital toxoplasmosis.

Science.gov (United States)

Kieffer, François; Wallon, Martine

2013-01-01

Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

Radiographic observation of congenital diaphragmatic hernia

International Nuclear Information System (INIS)

Rhee, Chung Sik

1973-01-01

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia

Radiographic observation of congenital diaphragmatic hernia

Energy Technology Data Exchange (ETDEWEB)

Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

1973-12-15

Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

Post-traumatic Winking Induced by Extension of the Hand: A Case Report of a Novel Synkinesis

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Riet Vangheluwe

2014-09-01

Full Text Available Several synkinesis syndromes have been reported in the literature. Synkinesis syndromes are rare and are most commonly congenital or follow post-traumatic reinnervation. We describe a novel synkinesis syndrome that developed several months after cervical spinal cord infarction due to a herniated disc in a 29-year-old woman. When the patient overstretched the extensor muscles of the right hand, the right upper eyelid raised automatically and nasal congestion developed. We hypothesize that aberrant reinnervation of the intermediolateral columns of the spinal cord at level C8–T2 by motor neurons of the extensor muscles of the hand occurred.

Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala

International Nuclear Information System (INIS)

Sudheer, K.R.; Jaikrishan, G.; Andrews, V.J.; Koya, P.K.M.; Seshadri, M.; Jagadeesan, C.K.; Madhusoodhanan, M.

2012-01-01

Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

Etiological evaluation of primary congenital hypothyroidism cases.

Science.gov (United States)

Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

2017-06-01

Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

Deformed special relativity with an invariant minimum speed and its ...

Indian Academy of Sciences (India)

On the other hand, according to special relativity (SR), the momentum cannot ... Deformed special relativity with an invariant minimum speed ..... However, we need to show that there is an anti-gravitational interaction between the ordinary proof mass m and the big sphere with a 'dark mass' of vacuum (MΛ), but let us first ...

Surgical treatment results of hand deformities in patients with Apert syndrome

Directory of Open Access Journals (Sweden)

Ufuk Nalbantoglu

2015-12-01

Results: The mean age at the first operation was 2.7 years and the mean number of operations was 3 per patient. No patient developed graft-flap necrosis and no patients required amputations. All patients were able to perform grasping and pinching functions and families were satisfied with the cosmetic results. Conclusion: Using a two-stage surgical protocol, achieving satisfactory results with a minimal number of operations is possible in patients with Apert Syndrome. [Hand Microsurg 2015; 4(3.000: 53-57

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Congenital syphilis: literature review

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Eduardo Chaida Sonda

2013-01-01

Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

What Are Congenital Heart Defects?

Science.gov (United States)

... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

DIAGNOSIS OF CONGENITAL CYTOMEGALOVIRUS INFECTION IN HIGH RISK NEONATES

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Ehab abdelmoniem Albanna

2013-07-01

Full Text Available Objectives: This study aimed to compare polymerase chain reaction (PCR and IgM detection using enzyme linked immune-sorbent assay (ELISA in diagnosis of congenital cytomegalovirus (CMV infection.   Methods: This study was conducted from May 2009 to December 2010. Urine and blood samples were collected from 94 neonates with suspected congenital CMV infection. Serum and part of urine samples were stored at -20°C freezer, until the serologic and PCR tests were achieved. A 94 fresh urine samples were processed for cell culture. Nineteen (20.2% out of 94 urine samples were proven positive for CMV infection by viral culture. For comparing PCR and IgM ELISA we used tissue culture technique as a reference, the 19 positive samples on culture (CMV group and 20 negative samples (control group were included in the comparison. Some characteristics of CMV and control groups were compared including sex, age, birth weight, gestational age < 37 and small for gestational age. Clinical and laboratory abnormalities were also compared in both groups.   Results: This study showed that the sensitivity and specificity of PCR in relation to viral culture were 100% and 100% respectively, there was excellent agreement between both tests (Kappa coefficient was 1 and P=0.000. On the other hand, the sensitivity of IgM CMV ELISA in relation to viral culture was 63.2% and the specificity was 85%. There was good agreement between both tests (Kappa coefficient was 0.48 and P=0.002. By comparing CMV and control groups, there were high statistically significant differences between both groups as regard the birth weight, gestational age < 37 and small for gestational age items (P= 0.00, 0.03 and 0.01 respectively. There were statistically insignificant differences as regarding the clinical and laboratory abnormalities detected for neonates of both groups. In this study jaundice (63% and hepato-splenomegaly (42% were the most common clinical signs in both groups.   Conclusion

Differential Protein Expression in Congenital and Acquired Cholesteatomas.

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Seung-Ho Shin

Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

Orientation sensitive deformation in Zr alloys: experimental and modeling studies

International Nuclear Information System (INIS)

Srivastava, D.; Keskar, N.; Manikrishna, K.V.; Dey, G.K.; Jha, S.K.; Saibaba, N.

2016-01-01

Zirconium alloys are used for fuel cladding and other structural components in pressurised heavy water nuclear reactors (PHWR's). Currently there is a lot of interest in developing alloys for structural components for higher temperature reactor operation. There is also need for development of cladding material with better corrosion and mechanical property of cladding material for higher and extended burn up applications. The performance of the cladding material is primarily influenced by the microstructural features of the material such as constituent phases their morphology, precipitates characteristics, nature of defects etc. Therefore, the microstructure is tailored as per the performance requirement by through controlled additions of alloying elements, thermo-mechanical- treatments. In order to obtain the desired microstructure, it is important to know the deformation behaviour of the material. Orientation dependent deformation behavior was studied in Zr using a combination of experimental and modeling (both discrete and atomistic dislocation dynamics) methods. Under the conditions of plane strain deformation, it was observed that single phase Zr, had significant extent of deformation heterogeneity based on local orientations. Discrete dislocation dynamics simulations incorporating multi slip systems had captured the orientation sensitive deformation. MD dislocations on the other hand brought the fundamental difference in various crystallographic orientations in determining the nucleating stress for the dislocations. The deformed structure has been characterized using X-ray, electron and neutron diffraction techniques. The various operating deformation mechanism will be discussed in this presentation. (author)

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

2007-06-15

Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

Genetics of Congenital Heart Disease: Past and Present.

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Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

2017-04-01

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Comorbid Conditions in Neonates With Congenital Heart Disease.

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Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

2016-08-01

The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

Microstructure of transcallosal motor fibers reflects type of cortical (re-)organization in congenital hemiparesis.

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Juenger, Hendrik; Koerte, Inga K; Muehlmann, Marc; Mayinger, Michael; Mall, Volker; Krägeloh-Mann, Ingeborg; Shenton, Martha E; Berweck, Steffen; Staudt, Martin; Heinen, Florian

2014-11-01

Early unilateral brain lesions can lead to different types of corticospinal (re-)organization of motor networks. In one group of patients, the contralesional hemisphere exerts motor control not only over the contralateral non-paretic hand but also over the (ipsilateral) paretic hand, as the primary motor cortex is (re-)organized in the contralesional hemisphere. Another group of patients with early unilateral lesions shows "normal" contralateral motor projections starting in the lesioned hemisphere. We investigated how these different patterns of cortical (re-)organization affect interhemispheric transcallosal connectivity in patients with congenital hemiparesis. Eight patients with ipsilateral motor projections (group IPSI) versus 7 patients with contralateral motor projections (group CONTRA) underwent magnetic resonance diffusion tensor imaging (DTI). The corpus callosum (CC) was subdivided in 5 areas (I-V) in the mid-sagittal slice and volumetric information. The following diffusion parameters were calculated: fractional anisotropy (FA), trace, radial diffusivity (RD), and axial diffusivity (AD). DTI revealed significantly lower FA, increased trace and RD for group IPSI compared to group CONTRA in area III of the corpus callosum, where transcallosal motor fibers cross the CC. In the directly neighboring area IV, where transcallosal somatosensory fibers cross the CC, no differences were found for these DTI parameters between IPSI and CONTRA. Volume of callosal subsections showed significant differences for area II (connecting premotor cortices) and III, where group IPSI had lower volume. The results of this study demonstrate that the callosal microstructure in patients with congenital hemiparesis reflects the type of cortical (re-)organization. Early lesions disrupting corticospinal motor projections to the paretic hand consecutively affect the development or maintenance of transcallosal motor fibers. Copyright © 2014 European Paediatric Neurology Society

Normal values for myocardial deformation within the right heart measured by feature-tracking cardiovascular magnetic resonance imaging.

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Liu, Boyang; Dardeer, Ahmed M; Moody, William E; Edwards, Nicola C; Hudsmith, Lucy E; Steeds, Richard P

2018-02-01

Reproducible and repeatable assessment of right heart function is vital for monitoring congenital and acquired heart disease. There is increasing evidence for the additional value of myocardial deformation (strain and strain rate) in determining prognosis. This study aims to determine the reproducibility of deformation analyses in the right heart using cardiovascular magnetic resonance feature tracking (FT-CMR); and to establish normal ranges within an adult population. A cohort of 100 healthy subjects containing 10 males and 10 females from each decade of life between the ages of 20 and 70 without known congenital or acquired cardiovascular disease, hypertension, diabetes, dyslipidaemia or renal, hepatic, haematologic and systemic inflammatory disorders underwent FT-CMR assessment of right ventricular (RV) and right atrial (RA) myocardial strain and strain rate. RV longitudinal strain (Ell) was -21.9±3.24% (FW+S Ell) and -24.2±3.59% (FW-Ell). Peak systolic strain rate (S') was -1.45±0.39s -1 (FW+S) and -1.54±0.41s -1 (FW). Early diastolic strain rate (E') was 1.04±0.26s -1 (FW+S) and 1.04±0.33s -1 (FW). Late diastolic strain rate (A') was 0.94±0.33s -1 (FW+S) and 1.08±0.33s -1 (FW). RA peak strain was -21.1±3.76%. The intra- and inter-observer ICC for RV Ell (FW+S) was 0.92 and 0.80 respectively, while for RA peak strain was 0.92 and 0.89 respectively. Normal values of RV & RA deformation for healthy individuals using FT-CMR are provided with good RV Ell and RA peak strain reproducibility. Strain rate suffered from sub-optimal reproducibility and may not be satisfactory for clinical use. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Composite self-expanding bioresorbable prototype stents with reinforced compression performance for congenital heart disease application: Computational and experimental investigation.

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Zhao, Fan; Xue, Wen; Wang, Fujun; Liu, Laijun; Shi, Haoqin; Wang, Lu

2018-08-01

Stents are vital devices to treat vascular stenosis in pediatric patients with congenital heart disease. Bioresorbable stents (BRSs) have been applied to reduce challenging complications caused by permanent metal stents. However, it remains almost a total lack of BRSs with satisfactory compression performance specifically for children with congenital heart disease, leading to importantly suboptimal effects. In this work, composite bioresorbable prototype stents with superior compression resistance were designed by braiding and annealing technology, incorporating poly (p-dioxanone) (PPDO) monofilaments and polycaprolactone (PCL) multifilament. Stent prototype compression properties were investigated. The results revealed that novel composite prototype stents showed superior compression force compared to the control ones, as well as recovery ability. Furthermore, deformation mechanisms were analyzed by computational simulation, which revealed bonded interlacing points among yarns play an important role. This research presents important clinical implications in bioresorbable stent manufacture and provides further study with an innovative stent design. Copyright © 2018 Elsevier Ltd. All rights reserved.

Vertebral Column Resection for Rigid Spinal Deformity.

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Saifi, Comron; Laratta, Joseph L; Petridis, Petros; Shillingford, Jamal N; Lehman, Ronald A; Lenke, Lawrence G

2017-05-01

Broad narrative review. To review the evolution, operative technique, outcomes, and complications associated with posterior vertebral column resection. A literature review of posterior vertebral column resection was performed. The authors' surgical technique is outlined in detail. The authors' experience and the literature regarding vertebral column resection are discussed at length. Treatment of severe, rigid coronal and/or sagittal malalignment with posterior vertebral column resection results in approximately 50-70% correction depending on the type of deformity. Surgical site infection rates range from 2.9% to 9.7%. Transient and permanent neurologic injury rates range from 0% to 13.8% and 0% to 6.3%, respectively. Although there are significant variations in EBL throughout the literature, it can be minimized by utilizing tranexamic acid intraoperatively. The ability to correct a rigid deformity in the spine relies on osteotomies. Each osteotomy is associated with a particular magnitude of correction at a single level. Posterior vertebral column resection is the most powerful posterior osteotomy method providing a successful correction of fixed complex deformities. Despite meticulous surgical technique and precision, this robust osteotomy technique can be associated with significant morbidity even in the most experienced hands.

Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

Directory of Open Access Journals (Sweden)

Zborovska N.V. Zborovska N.V.

2012-04-01

While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

Are the N and Δ deformed MIT bags

International Nuclear Information System (INIS)

Clement, G.; Maamache, M.

1985-01-01

The influence of the one-gluon exchange interaction, zero-point energy, and centre-of-mass correction, on the deformation of the nucleon and Δ bags, is studied in the MIT bag model. If the sharp MIT boundary conditions are taken seriously, the strong dependence of the zero-point energy on the deformation leads to the collapse of the N and Δ bags for realistic values of the strong fine structure constant α/sub S/. If on the other hand the zero-point energy is ignored altogether, then the nucleon, spherical for α/sub S/ 3.25, while the Δ is always prolate. The various predictions of the model are, for α/sub S/> or approx. =3.25, consistent with experiment, except for the proton magnetic moment which is only about 40% of the experimental value

Diagnostic imaging of the hand. 3. rev. and enl. ed.

International Nuclear Information System (INIS)

Schmitt, Rainer; Lanz, Ulrich

2015-01-01

The book on diagnostic imaging of the hand covers the following issues: projection radiography, cinematography, MRT and CR arthrography, arthroscopy, arteriography, skeleton scintiscanning, sonography, computerized tomography, magnetic resonance tomography, anatomy of forearm and carpus, anatomy of metacarpus and fingers, carpal function and morphometry, postoperative X-ray diagnostic, growing hand skeleton, normative variants, malformations and deformities, trauma of the distal forearm, lesions of the ulnocarpal complex (TFCC), scaphoid fractures, scaphoid arthrosis, fractures of other carpus bones, carpal luxations and luxation fractures, carpal instabilities, fractures of the metacarpalla, finger fractures, arthrosis deformans, enthesiopathies, sport induced soft tissue lesions, osteonecrosis, impingement syndromes, osteopenic skeletal diseases, metabolis diseases, crystal-induced osteoarthropaties, rheumatoid arthritis, spondyloarthritis, rheumatic fever, collagenoses, infective arthritis, osteomyelitis, soft tissue infections, cystoids bone lesions, skeletal tumors, soft tissue tumors, carpal tunnel syndrome, nerve compression syndrome, arterial perfusion disturbances, differential diagnostic tables on hand lesions.

Genetics Home Reference: severe congenital neutropenia

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... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

Genetic Counseling for Congenital Heart Defects

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... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

Genetics Home Reference: congenital dyserythropoietic anemia

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... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

Congenital spinal malformations

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Reiser, M.F.

2001-01-01

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.) [de

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.

Real-time model for simulating a tracked vehicle on deformable soils

Directory of Open Access Journals (Sweden)

Martin Meywerk

2016-05-01

Full Text Available Simulation is one possibility to gain insight into the behaviour of tracked vehicles on deformable soils. A lot of publications are known on this topic, but most of the simulations described there cannot be run in real-time. The ability to run a simulation in real-time is necessary for driving simulators. This article describes an approach for real-time simulation of a tracked vehicle on deformable soils. The components of the real-time model are as follows: a conventional wheeled vehicle simulated in the Multi Body System software TRUCKSim, a geometric description of landscape, a track model and an interaction model between track and deformable soils based on Bekker theory and Janosi–Hanamoto, on one hand, and between track and vehicle wheels, on the other hand. Landscape, track model, soil model and the interaction are implemented in MATLAB/Simulink. The details of the real-time model are described in this article, and a detailed description of the Multi Body System part is omitted. Simulations with the real-time model are compared to measurements and to a detailed Multi Body System–finite element method model of a tracked vehicle. An application of the real-time model in a driving simulator is presented, in which 13 drivers assess the comfort of a passive and an active suspension of a tracked vehicle.

MSX1 gene in the etiology orofacial deformities

Directory of Open Access Journals (Sweden)

Anna Paradowska-Stolarz

2015-12-01

Full Text Available The muscle segment homeobox (MSX1 gene plays a crucial role in epithelial-mesenchymal tissue interactions in craniofacial development. It plays a regulative role in cellular proliferation, differentiation and cell death. The human MSX1 domain was also found in cow (Bt 302906, mouse (Mm 123311, rat (Rn13592001, chicken (Gg 170873 and clawed toad (XI 547690. Cleft lip and palate is the most common anomaly of the facial part of the skull. The etiology is not fully understood, but it is believed that the key role is played by the genetic factor activated by environmental factors. Among the candidate genes whose mutations could lead to formation of the cleft, the MSX1 homeobox gene is mentioned. Mutations in the gene MSX1 can lead to isolated cleft deformities, but also cause other dismorphic changes. Among the most frequently mentioned is loss of permanent tooth buds (mostly of less than 4 teeth – hypodontia, including second premolars. Mutations of MSX1 are observed in the Pierre- Robin sequence, which may be one of the features of congenital defects or is observed as an isolated defect. Mutation of the gene can lead to the occurrence of a rare congenital defect Wiktop (dental-nail syndrome. Deletion of a fragment MSX1 (4p16.3 located in the WHS critical region, may be a cause of some symptoms of Wolf-Hirschhorn syndrome.

Congenital hypothyroidism: insights into pathogenesis and treatment

OpenAIRE

Cherella, Christine E.; Wassner, Ari J.

2017-01-01

Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

Diagnostic significance of the radiologic appearances of the hands in systemic lupus erythematosus (SLE)

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Winkler, P; Baenkler, H W; Pfuhl, E; Gutmann, W

1980-09-01

40 patients with SLE were assessed, the diagnoses being made according to modified ARA-criteria; the hand films of 25 of these patients were analysed. The most important roentgenologic findings consisted of reducible deformities with mild or absent articular changes in the deformed MCP and PIP joints. As these changes often occur late in the course of SLE, a primary radiological diagnosis was possible in only three cases (8%), whereas hand films provided confirmatory evidence of disease in a further seven patients. These roentgenological characteristics of SLE were found significantly less often in patients with definite RA; this group tended to have positive ANF (antinuclear factors). Antibodies against DNA may be absent, especially in a less active phase of disease. ANF is non-specific, and SLE simulates RA in 10-20% of cases. It is, therefore, very important in individual cases to consider the diagnosis of SLE in the presence of deformity without corresponding articular changes. Direct comparison of both the p.a. and oblique views is essential in the evaluation of reducible deformities, although this point has not been stressed in the literature. Reducible deformities may be overlooked in physical examination, when the patient gives no history of functional disability. The main differential diagnosis is Jaccoud's arthropathy, which is rarely seen in a general hospital. Most of these patients give a history of recurrent rheumatic fever, a minority complain about joint pain or disability, approximately 90% show signs indicating a valvular lesion of the heart, over 75% have a normal ESR and a positive rheumatoid or antinuclear factor is very rarely found. The distinction from SLE or rheumatoid arthritis is therefore easily established on additional non-radiological criteria.

A novel deformation mechanism for superplastic deformation

Energy Technology Data Exchange (ETDEWEB)

Muto, H.; Sakai, M. (Toyohashi Univ. of Technology (Japan). Dept. of Materials Science)

1999-01-01

Uniaxial compressive creep tests with strain value up to -0.1 for a [beta]-spodumene glass ceramic are conducted at 1060 C. From the observation of microstructural changes between before and after the creep deformations, it is shown that the grain-boundary sliding takes place via cooperative movement of groups of grains rather than individual grains under the large-scale-deformation. The deformation process and the surface technique used in this work are not only applicable to explain the deformation and flow of two-phase ceramics but also the superplastic deformation. (orig.) 12 refs.

Congenital rubella

Science.gov (United States)

... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

Congenital heart disease with high origin of coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin

2002-01-01

Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

Hemivertebrectomy and fixation with titanium cable for congenital scoliosis in children younger than five years

International Nuclear Information System (INIS)

Arango, Luis Alberto; Meneses, David; Montero, Carlos; Naquira, Luis Felipe

2004-01-01

A retrospective study was performed. The general objective was to describe the results and behavior of patients with congenital scoliosis secondary to hemivertebrae, treated with hemivertebral resection and fixation with titanium cable. There are different types of treatment: anterior fusion, posterior fusion, hemiepiphyseodesis and hemivertebral resection with or without instrumentation. Instrumentation in young children less than five years is difficult because of the pediatric spine devices are still big for this patient group. Between January 1999 and December 2003, 11 hemivertebrae resection in ten children were evaluated clinically and radiologically at admission, after surgery and at mean follow up of 12 months. The mean deformity angle before surgery was 40.8 degrades, 20.4 degrades alter surgery and 12.4 degrades at final follow up. There was one superficial infection and one of two cables rupture. The mean surgical time for double approach was 7.1 hours and for posterior approach was 3.6 hours. The bleeding for double approach was 656cc and for posterior approach was 186cc. The hemivertebral resection with titanium cable fixation is safe and success alternative for treating congenital scoliosis secondary hemivertebrae in young children

Adult Congenital Heart Disease: Scope of the Problem.

Science.gov (United States)

Mazor Dray, Efrat; Marelli, Ariane J

2015-11-01

This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

Science.gov (United States)

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Molecular and Genetic Studies of Congenital Myopathies

Science.gov (United States)

2018-03-21

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

Profiles in congenital heart disease

International Nuclear Information System (INIS)

Freed, M.D.; Keane, J.F.

1986-01-01

Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

2014-01-01

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

Congenital Heart Disease: Vascular Risk Factors and Medication

NARCIS (Netherlands)

H.P.M. Smedts (Dineke)

2011-01-01

textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

Genetics Home Reference: Fukuyama congenital muscular dystrophy

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... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

The Impact of Specialty on Cases Performed During Hand Surgery Fellowship Training.

Science.gov (United States)

Silvestre, Jason; Upton, Joseph; Chang, Benjamin; Steinberg, David R

2018-03-07

Hand surgery fellowship programs in the United States are predominately sponsored by departments or divisions of orthopaedic surgery or plastic surgery. This study compares the operative experiences of hand surgery fellows graduating from orthopaedic or plastic surgery hand surgery fellowships. Operative case logs of 3 cohorts of hand surgery fellows graduating during the academic years of 2012-2013, 2013-2014, and 2014-2015 were analyzed. The median case volumes were compared by specialty via Mann-Whitney U tests. An arbitrary 1,000% change between the 90th and 10th percentiles of fellows was used as a threshold to highlight case categories with substantial variability. In this study, 413 orthopaedic hand surgery fellows (87%) and 62 plastic surgery hand surgery fellows (13%) were included. Plastic surgery fellows reported more cases in the following categories: wound closure with graft; wound reconstruction with flap; vascular repair, reconstruction, replantation, or microvascular; closed treatment of fracture or dislocation; nerve injury; and congenital (p < 0.05). Orthopaedic surgery fellows reported more cases in the following categories: wound irrigation and debridement fasciotomy or wound preparation; hand reconstruction or releases; wrist reconstruction, releases, or arthrodesis; forearm, elbow, or shoulder reconstruction or releases; hand fractures, dislocation, or ligament injury; wrist fractures or dislocations; forearm and proximal fractures or dislocations; miscellaneous insertion or removal of devices; shoulder arthroscopy, elbow arthroscopy, and wrist arthroscopy; decompression of tendon sheath, synovectomy, or ganglions; nerve decompression; Dupuytren; and tumor or osteomyelitis (p < 0.05). Plastic surgery fellows reported substantial variability for 12 case categories (range, 1,024% to 2,880%). Orthopaedic surgery fellows reported substantial variability for 9 case categories (range, 1,110% to 9,700%). Orthopaedic and plastic hand surgery

[Sex differences in congenital heart disease].

Science.gov (United States)

Aubry, P; Demian, H

2016-12-01

Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Congenital anomalies of the neonatal head

International Nuclear Information System (INIS)

Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

1987-01-01

US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

The Study of Congenital Anomalies Resulting in Legal Termination of Pregnancy in Iran

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Saeid Dastgiri

2015-08-01

Full Text Available Background and objectives : Safe pregnancy is among the goals and missions of reproductive health which has an important part in Millennium Development Goals. Unfortunately, bad conditions in reproductive health are the major cause of women mortality in fertility age all over the world especially in developing countries. Congenital anomalies are pregnancy problems that in case of early diagnosis, the anomaly will be done according to list 51. The aim of this study was to determine families’ demographic situations, frequency of congenital anomalies types and the factors of legally termination of pregnancy to suggest solutions in order to reduce anomalies and promote reproductive health. Material and Methods : This is a case-control study carried out for 1 year period from 2010 to 2011 in which 603 pregnant women that were diagnosed/recommended to the Legal Medicine Organization for the termination of pregnancy as having a fetus with some types of birth defect(s. Among them, 201 were categorized as case group (receiving termination permission because their pregnancy was before week 20 and 402 of them were categorized as control group 1 (not receiving termination permission because their pregnancy was after week 20 and 200 women as control group 2 who referred to Alzahra hospital to give childbirth. A questionnaire containing demographic and geographical information was made for all the women in those three groups. Results : The average age of mothers in this study was 27.2 years (15-47 years old. In 100 % of women, at least 1 ultrasound examination was performed and genetic and Amniocentesis tests were conducted in 2.1 % and 3.5 % respectively in order to diagnose anomaly. In total, 33 % of pregnant women with congenital anomalies received pregnancy termination permission. The majority of congenital anomalies were neural tube defects 16.9 %, hydrocephaly 8.6 %, limb deformation 7.7 % and Down syndrome 6.4 %. Mother’s age, the history of

Symptoms of Autism among Children with Congenital Deafblindness

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Dammeyer, Jesper

2014-01-01

Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

Cyanotic congenital heart disease and atherosclerosis

DEFF Research Database (Denmark)

Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

2017-01-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

Sequential segmental classification of feline congenital heart disease.

Science.gov (United States)

Scansen, Brian A; Schneider, Matthias; Bonagura, John D

2015-12-01

Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.

Microstructural change during creep deformation in a 10%Cr martensitic steel

International Nuclear Information System (INIS)

Kim, Sung Ho; Song, B. J.; Ryu, Woo Seog

2001-01-01

The relationship between creep deformation and microstructural changes in martensitic 10Cr-MoW steel has been studied. Transmission electron microscopy and image analyser were used to determine the variation of precipitates and martensite lath width size during creep deformation and aging. As precipitates are coarsened during creep deformation, dislocations become easy to move and the recovery proceeds rapidly. This leads to the growth of lath width. The average size of precipitates was linearly increased with creep time. On the other hand the growth rate of lath width is constant until tertiary creep, but the growth of lath width is accelerated during tertiary creep. It has been concluded that the growth behavior of lath width are consistent with creep deformation. Because the growth of lath width is controlled by the coarsening of precipitates it is important to form more stable precipitates in creep condition for improvement of creep properties of martensitic steel. Microstructure of martensitic steel is thermally very stable, so the size of precipitates and martensite lath width are hardly changed during aging

Epileptiform electroencephalogram abnormality in children with congenital sensorineural hearing loss.

Science.gov (United States)

El-Badry, Mohamed Mohamed; Hamdy, Nermin Aly; Sobhy, Sayed; Gamal, Reham

2014-04-01

This work was designed to study electroencephalogram findings in children with congenital sensorineural hearing loss and correlate these findings with the SNHL parameters as duration, etiology, severity, and type. Ninety children with bilateral congenital sensorineural hearing loss served as the study group. They were free from any neurological disorders or symptoms that are commonly associated with abnormal electroencephalogram as convulsions or loss of consciousness. Twenty children having normal hearing with no history of otological or neurological disorders served as the control group. All children participating in the study were subjected to full medical and audiological history, otological examination, neurological examination, audiological evaluation and electroencephalogram recording. Mean age of the children in the control group was 3.56 ± 2.1 years and mean age of the children in the study group was 3.8 ± 2.2 years. While none of the control children had abnormal electroencephalogram, 38 (42.2%) of children with congenital SNHL had epileptiform electroencephalogram abnormality. The epileptiform abnormality was generalized in 14 children (36.8%), focal temporal in 17 children (44.7%) and focal other than temporal in 7 children (18.4%). According to the hemispheric side affected, the abnormality was right in 14 children (36.8%), left in 10 children (26.3%) and bilateral in 14 children (36.8%). No statistically significant predominance of specific site or side of the epileptiform abnormality was found. Similarly, no statistical significant prevalent of the epileptiform abnormality was found in relation to the age or sex of children, duration of hearing loss or etiology of hearing loss (i.e., genetic vs. neonatal insults). On the other hand, the epileptiform abnormality was statistically prevalent in children with moderate degree of hearing loss, and in children with auditory neuropathy spectrum disorder. The epileptiform electroencephalogram abnormality is

Congenital asymmetric crying face: a case report

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Semra Kara

2011-12-01

Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

Congenital Syphilis Masquerading as Leukemia

OpenAIRE

Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

2017-01-01

As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

Angle closure glaucoma in congenital ectropion uvea

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Grace M. Wang

2018-06-01

Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

Three saints with deformed extremities in an Italian Renaissance altarpiece.

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Albury, W R; Weisz, G M

2017-03-01

A fifteenth-century Florentine altarpiece painted by the Pollaiuolo brothers, Antonio (1433-1498) and Piero (1443-1496), shows three saints with evident deformities of the hands and feet. The pathologies concerned are tentatively identified, and various rationales for their presence in the painting are discussed. Of particular importance is the location of the altarpiece in a chapel which houses the tomb of the Cardinal of Portugal, Prince James of Lusitania (1433-1459). It is argued that both the artistic style of the day and the religious symbolism of the Cardinal's funeral chapel contributed to the artists' decision to portray the saints with deformities. An unnatural curvature of the fifth finger was apparently considered elegant in fifteenth-century paintings, and the depiction of bare feet with hallux valgus gave them a shape which approximated and could have been caused by fashionable pointed shoes. But in addition, deformities in religious art could be symbolic of suffering and martyrdom, a theme which the Cardinal's chapel emphasised in a number of ways. It is suggested therefore that the Pollaiuolo altarpiece reconciles these two disparate factors, portraying genuine deformities in a way that was artistically stylish and symbolically meaningful.

Sports Injury-Related Fingers and Thumb Deformity Due to Tendon or Ligament Rupture

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Rong-Jie Bai

2018-01-01

Conclusions: Sports injury-related fingers and thumb deformity are relatively common. MRI is an accurate method for evaluation of the anatomy and pathologic conditions of the fingers and thumb. It is a useful tool for accurate diagnosis of the sports-related ligaments and tendons injuries in hand.

Heart transplantation in adults with congenital heart disease.

Science.gov (United States)

Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien

2017-05-01

With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease, a significant number will develop ventricular dysfunction over time. Heart failure accounts for 26-42% of deaths in adults with congenital heart defects. Heart transplantation, or heart-lung transplantation in Eisenmenger syndrome, then becomes the ultimate therapeutic possibility for these patients. This population is deemed to be at high risk of mortality after heart transplantation, although their long-term survival is similar to that of patients transplanted for other reasons. Indeed, heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance. In this review, we focus on the specific problems relating to heart and heart-lung transplantation in this population, revisit the indications/contraindications, and update the long-term outcomes. Copyright © 2017. Published by Elsevier Masson SAS.

[Genetics of congenital heart diseases].

Science.gov (United States)

Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Congenital scoliosis: an up-to-date

Science.gov (United States)

Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

2015-01-01

Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

Familial aggregation of congenital hydrocephalus in a nationwide cohort

DEFF Research Database (Denmark)

Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee

2012-01-01

The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

Congenital anomalies in Primorsky region.

Science.gov (United States)

Kiku, P; Voronin, S; Golokhvast, K

2015-01-01

According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

Longitudinal bracketed epiphysis of proximal phalanx of the great toe with congenital hallux varus managed simultaneously with monorail external fixator: a case report.

Science.gov (United States)

Verma, Vineet; Batra, Amit; Singla, Rohit; Gogna, Paritosh; Magu, Narender; Gupta, Rakesh

2014-02-01

Longitudinal bracketed epiphysis (delta phalanx) is a rare congenital anomaly that affects phalanges in the hand more commonly than toes. We present a rare case of congenital hallux varus with longitudinal bracketed epiphysis of proximal phalanx with bifid distal phalanx of the great toe, which was managed with monorail type of external fixator. To the best of our knowledge, this is the first report of its successful implementation in simultaneous treatment of longitudinal bracketed epiphysis of the proximal phalanx of the great toe and hallux varus. Apart from adding to the literature a case of rare subtype of delta phalanx with hallux varus, the present study highlights the role of a reliable alternative in its management.

Hand size and growth in untreated and IGF-I treated patients with Laron syndrome.

Science.gov (United States)

Konen, O; Silbergeld, A; Lilos, P; Kornreich, L; Laron, Z

2009-03-01

We have previously reported on the linear growth, growth of the head circumference and foot length in untreated and IGF-I treated patients with Laron syndrome (LS) (primary GH insensitivity). To assess the size and growth of the hands in patients with LS from early childhood to adult age. Ten IGF-I treated children with LS (4 M, 6 F) and 24 untreated patients (10 M, 14 F) were studied. Measurements of palm length were made on available standardized hand X-rays from infancy to adult age. The measurements were compared to normal references and SD values were calculated for each measurement. The growth of the hand was compared to the concomitant height of the body. Hand SDS in untreated patients with LS decreased with age, from a mean of -2.8 +/- 0.7 (age 1-3 years) to -7.3 +/- 0.8 (age 13-15 years) and to -9.0 +/- 3.9 (age 40-50 years). During 9 years of IGF-I treatment the hand size deficit SDS did not improve in contradistinction to the height SDS which decreased from -6.2 +/- 1.2 to -3.9 +/- 0.5. Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth retardation characteristics, resulting in acromicria.

[Advances in the research of prevention and treatment of postburn contractures of hand].

Science.gov (United States)

Wang, K A; Wu, G S; Sun, Y; Xia, Z F

2017-01-20

Scar contracture deformity, which can lead to dysfunction of hand and low quality of life, is one of the common complication after hand burns. The prevention measures of scar contracture after hand burns include large skin grafting, prevention of infection, insistence on wearing pressure gloves, use of silicone sheets, wearing orthosis, accepting proper physical therapy, and early functional exercise. The primary treatments of postburn contractures of the hand are surgery, drugs, laser treatment, and rehabilitation therapy. Excision of scars, release of muscle, joints or bones, and soft tissue transplantation are the core of surgery. Laser treatment has a bright future but still needs to be further studied. Additionally, some novel treatments such as molecular targeted therapy, cell therapy, fat injection, and botulinum toxin injection will play important roles in prevention and treatment of postburn contractures in the future. The purpose of this article is to review the literature concerning postburn contractures of the hand, and summarize the present situation of prevention and treatment of such disease comprehensively.

THE OCCURRENCE OF THE RADIAL CLUB HAND IN CHILDREN WITH DIFFERENT SYNDROMES

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Sergey Ivanovich Golyana

2013-03-01

Full Text Available Radial club hand is a developmental anomaly of the upper extremity, being characterized as a longitudinal underdevelopment of a forearm and a hand on the radial surface, consisting in a hypo-/ aplazy radial bone and the thumb of various degree of expressiveness. Characteristic symptoms of this developmental anomaly are: shortening and bow-shaped curvature of a forearm, palmar and radial deviation of a hand, underdevelopment of the thumb from its proximal departments and structures, anomaly of development of three-phalanx fingers of a hand (is more often than the 2-4th, violation of a cosmetic condition and functionality of the affected segment. From 2000 for 2012 in FSI SRICO n.a. H.Turner examination and treatment of 23 children with various syndromes at which the radial club hand was revealed are conducted. The main syndromes at which it is revealed radial club hand - Holt-Orama syndrome, TAR- syndrome and VACTERL syndrome. Tactics and techniques of surgical treatment of a radial club hand it various syndromes most often don’t differ from treatment of other types of a radial club hand though demand an individual approach depending on severity and a type of deformation of the upper extremity.

Analysis of radiographic bone parameters throughout the surgical lengthening and deformity correction of extremities.

Science.gov (United States)

Atanasov, Nenad; Poposka, Anastasika; Samardziski, Milan; Kamnar, Viktor

2014-01-01

Radiographic examination of extremities in surgical lengthening and/or correction of deformities is of crucial importance for the assessment of new bone formation. The purpose of this study is to confirm the diagnostic value of radiography in precise detection of bone parameters in various lengthening or correction stages in patients treated by limb-lengthening and deformity correction. 50 patients were treated by the Ilizarov method of limb lengthening or deformity correction at the University Orthopaedic Surgery Clinic in Skopje, and analysed over the period from 2006 to 2012. The patients were divided into two groups. The first group consisted of 27 patients with limb-lengthening because of congenital shortening. The second group consisted of 23 patients treated for acquired limb deformities. The results in both groups were received in three stages of new bone formation and were based on the appearance of 3 radiographic parameters at the distraction/compression site. The differences between the presence of all radiographic bone parameters in different stages of new bone formation were statistically signficant in both groups, especially the presence of the cortical margin in the first group (Cochran Q=34.43, df=2, p=0.00000). The comparative analysis between the two groups showed a statistically significant difference in the presence of initial bone elements and cystic formations only in the first stage. Almost no statistical significance in the differences between both groups of patients with regard to 3 radiographic parameters in 3 stages of new bone formation, indicates a minor influence of the etiopathogenetic background on the new bone formation in patients treated by gradual lengthening or correction of limb deformities.

Long-term results of forearm lengthening and deformity correction by the Ilizarov method.

Science.gov (United States)

Orzechowski, Wiktor; Morasiewicz, Leszek; Krawczyk, Artur; Dragan, Szymon; Czapiński, Jacek

2002-06-30

Background. Shortening and deformity of the forearm is most frequently caused by congenital disorders or posttraumatic injury. Given its complex anatomy and biomechanics, the forearm is clearly the most difficult segment for lengthening and deformity correction. Material and methods. We analyzed 16 patients with shortening and deformity of the forearm, treated surgically, using the Ilizarov method in our Department from 1989 to 2001. in 9 cases 1-stage surgery was sufficient, while the remaining 7 patients underwent 2-5 stages of treatment. At total of 31 surgical operations were performed. The extent of forearm shortening ranged from 1,5 to 14,5 cm (5-70%). We development a new fixator based on Schanz half-pins. Results. The length of forearm lengthening per operative stage averaged 2,35 cm. the proportion of lengthening ranged from 6% to 48% with an average of 18,3%. The mean lengthening index was 48,15 days/cm. the per-patient rate of complications was 88% compared 45% per stage of treatment, mostly limited rotational mobility and abnormal consolidation of regenerated bone. Conclusions. Despite the high complication rate, the Ilizarov method is the method of choice for patients with forearm shortenings and deformities. Treatment is particularly indicated in patients with shortening caused by disproportionate length of the ulnar and forearm bones. Treatment should be managed so as cause the least possible damage to arm function, even at the cost of limited lengthening. Our new stabilizer based on Schanz half-pins makes it possible to preserve forearm rotation.

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

Science.gov (United States)

Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

2007-01-01

AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

A two-dimensional deformable phantom for quantitatively verifying deformation algorithms

Energy Technology Data Exchange (ETDEWEB)

Kirby, Neil; Chuang, Cynthia; Pouliot, Jean [Department of Radiation Oncology, University of California San Francisco, San Francisco, California 94143-1708 (United States)

2011-08-15

Purpose: The incorporation of deformable image registration into the treatment planning process is rapidly advancing. For this reason, the methods used to verify the underlying deformation algorithms must evolve equally fast. This manuscript proposes a two-dimensional deformable phantom, which can objectively verify the accuracy of deformation algorithms, as the next step for improving these techniques. Methods: The phantom represents a single plane of the anatomy for a head and neck patient. Inflation of a balloon catheter inside the phantom simulates tumor growth. CT and camera images of the phantom are acquired before and after its deformation. Nonradiopaque markers reside on the surface of the deformable anatomy and are visible through an acrylic plate, which enables an optical camera to measure their positions; thus, establishing the ground-truth deformation. This measured deformation is directly compared to the predictions of deformation algorithms, using several similarity metrics. The ratio of the number of points with more than a 3 mm deformation error over the number that are deformed by more than 3 mm is used for an error metric to evaluate algorithm accuracy. Results: An optical method of characterizing deformation has been successfully demonstrated. For the tests of this method, the balloon catheter deforms 32 out of the 54 surface markers by more than 3 mm. Different deformation errors result from the different similarity metrics. The most accurate deformation predictions had an error of 75%. Conclusions: The results presented here demonstrate the utility of the phantom for objectively verifying deformation algorithms and determining which is the most accurate. They also indicate that the phantom would benefit from more electron density heterogeneity. The reduction of the deformable anatomy to a two-dimensional system allows for the use of nonradiopaque markers, which do not influence deformation algorithms. This is the fundamental advantage of this

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

Science.gov (United States)

Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

2013-05-01

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Congenital segmental dilatation of the colon

African Journals Online (AJOL)

Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

NARCIS (Netherlands)

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

2011-01-01

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

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

NARCIS (Netherlands)

Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.

Congenital tumors of the central nervous system

International Nuclear Information System (INIS)

Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

2010-01-01

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

Japanese family with congenital factor VII deficiency.

Science.gov (United States)

Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

2015-10-01

Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

Polymicrogyria and Congenital Parvovirus B19 Infection

Directory of Open Access Journals (Sweden)

Grant S. Schulert

2011-12-01

Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

Deformation localization at the tips of shear fractures: An analytical approach

Science.gov (United States)

Misra, Santanu

2011-04-01

Mechanical heterogeneities are important features in rocks which trigger deformation localization in brittle, ductile or brittle-ductile modes during deformation. In a recent study Misra et al. (2009) have investigated these different processes of deformation localization at the tips of pre-existing planar shear fractures. The authors identified four mechanisms of deformation, ranging from brittle to ductile, operating at the crack tips. Mechanism A: brittle deformation is the dominant process that forms a pair of long tensile fractures at the two crack tips. Mechanism B: nature of deformation is mixed where the tensile fractures grow to a finite length with incipient plastic deformation at the tips. Mechanism C: mixed mode deformation characterized by dominating macro-scale shear bands, and short, opened-out tensile fissures. Mechanism D: localization of plastic bands in the form of a pair of shear bands at each tip without any discernible brittle fracturing. The transition of the mechanisms is a function of orientation ( α) of the crack with respect to the bulk compression direction and the finite length ( l) of the crack. The aim of this study is to present a theoretical analysis to account for the variability of deformation localization in the vicinity of pre-existing shear cracks considering an elastic-plastic rheological model. The analysis calculates the principal tensile stress ( σ1) and the second stress invariant ( I2) of the stress field at the fracture tip to explain the transition from Mechanism A (tensile fracturing) to Mechanism D (ductile strain). The results show that σ1 at the fracture tip increases non-linearly with increasing α and Ar (aspect ratio of the shear crack), and assumes a large value when α > 50 o, promoting tensile fractures. On the other hand, I2 is a maximum at α < 45°, resulting in nucleation of ductile shear bands.

Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

Science.gov (United States)

Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

2013-01-01

Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

Treatment of wrist deformities in children with arthrogryposis multiplex congenita

Directory of Open Access Journals (Sweden)

Evgeniya A Kochenova

2016-03-01

Conclusions: Patients with segmental lesions of the spinal cord at the С6-С7 and С5-С8 level were associated with restoration of active wrist extension up to the neutral position or more and were expected to achieve significant improvement of hand function. Patients with spinal cord lesions at the C5-Th1 level exhibited significant lesions of the muscles, along with bone deformities. Consequently, surgical treatment could only achieve functional wrist position with minimal improvement of hand function. Using differential approaches in the treatment of wrist contracture that are selected by determining the level of spinal cord lesion will enable physicians to predict the outcome and improve the function and appearance of the wrist.

Extra-cardiac manifestations of adult congenital heart disease.

Science.gov (United States)

Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

2016-10-01

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

Newborn screening for congenital hypothyroidism in Henan province, China.

Science.gov (United States)

Zhao, De-Hua; Shen, Yong; Gong, Jiao-Mei; Meng, Yun; Su, Li; Zhang, Xia

2016-01-15

Congenital hypothyroidism is the most common congenital endocrine disorder. The study aimed to determine the congenital hypothyroidism incidence by newborn screening programs in Henan Province, China. The screening programs for congenital hypothyroidism are based on the measurement of TSH in dried blood spots. The TSH concentration was measured in the dry blood spot specimen using a DELFIA fluoroimmunoassay. The TSH cutoff concentration was 8mU/l. The total coverage and the incidence of congenital hypothyroidism were 24.85% (5,142,148/20,694,441) and 0.37‰ (1992/5,142,148), respectively. The coverage and the incidence of CH were only 0.58% (4526/784,580) and 0.22‰ (1/4526) in 1997, respectively. However, the coverage and the incidence of CH were increased to 74.67% (1,203,278/1,611,582) and 0.32‰ (389/1,203,278). There were no significant differences in the number of congenital hypothyroidism between males and females (P>0.05). The number of congenital hypothyroidism was increased year after year. The newborn screening program for CH is successful and quite effective. Copyright © 2015 Elsevier B.V. All rights reserved.

Grasping and manipulation of deformable objects based on internal force requirements

Directory of Open Access Journals (Sweden)

Sohil Garg

2008-11-01

Full Text Available In this paper an analysis of grasping and manipulation of deformable objects by a three finger robot hand has been carried out. It is proved that the required fingertip grasping forces and velocities vary with change in object size due to deformation. The variation of the internal force with the change in fingertip and object contact angle has been investigated in detail. From the results it is concluded that it is very difficult to manipulate an object if the finger contact angle is not between 30 o and 70 o, as the internal forces or velocities become very large outside this range. Hence even if the object is inside the work volume of the three fingers it would still not be possible to manipulate it. A simple control model is proposed which can control the grasping and manipulation of a deformable object. Experimental results are also presented to prove the proposed method.

Congenital imprinting disorders

DEFF Research Database (Denmark)

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

2015-01-01

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

Imaging diagnosis of congenital heart disease with single coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

2003-01-01

Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

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

CCT and sonographic findings in congenital craniopharyngioma

Energy Technology Data Exchange (ETDEWEB)

Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

1984-11-01

In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature.

Angle closure glaucoma in congenital ectropion uvea.

Science.gov (United States)

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Renal anomalies in congenital heart disease

International Nuclear Information System (INIS)

Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

1987-01-01

In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

Congenital maxillary double lip

Directory of Open Access Journals (Sweden)

Dinesh Singh Chauhan

2012-01-01

Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

Epidemiology of congenital diaphragmatic hernia in Europe

DEFF Research Database (Denmark)

McGivern, Mark R.; Best, Kate E.; Rankin, Judith

2015-01-01

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

CCT and sonographic findings in congenital craniopharyngioma

International Nuclear Information System (INIS)

Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

1984-01-01

In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature. (orig.)

The diagnostic significance of the radiologic appearances of the hands in systemic lupus erythematosus (SLE)

International Nuclear Information System (INIS)

Winkler, P.; Baenkler, H.W.; Pfuhl, E.; Gutmann, W.

1980-01-01

40 patients with SLE were assessed, the diagnoses being made according to modified ARA-criteria; the hand films of 25 of these patients were analysed. The most important roentgenologic findings consisted of reducible deformities with mild or absent articular changes in the deformed MCP and PIP joints. As these changes often occur late in the course of SLE, a primary radiological diagnosis was possible in only three cases (8%), whereas hand films provided confirmatory evidence of disease in a further seven patients. These roentgenological characteristics of SLE were found significantly less often in patients with definite RA; this group tended to have positive ANF (antinuclear factors). Antibodies against DNA may be absent, especially in a less active phase of disease. ANF is non-specific, and SLE simulates RA in 10-20% of cases. It is, therefore, very important in individual cases to consider the diagnosis of SLE in the presence of deformity without corresponding articular changes. Direct comparison of both the p.a. and oblique views is essential in the evaluation of reducible deformities, although this point has not been stressed in the literature. Reducible deformities may be overlooked in physical examination, when the patient gives no history of functional disability. The main differential diagnosis is Jaccoud's arthropathy, which is rarely seen in a general hospital. Most of these patients give a history of recurrent rheumatic fever, a minority complain about joint pain or disability, approximately 90% show signs indicating a valvular lesion of the heart, over 75% have a normal ESR and a positive rheumatoid or antinuclear factor is very rarely found. The distinction from SLE or rheumatoid arthritis is therefore easily established on additional non-radiological criteria. (orig./MG) [de

Unusual case of congenital/infantile fibrosarcoma in a new born

Directory of Open Access Journals (Sweden)

Eddiba Tarik

2013-01-01

Full Text Available Congenital infantile fibrosarcoma (CIFS is a rare mesenchymal tumor that is primarily developed in the soft tissue of distal extremities and occasionally in unusual locations such as the lung and retroperitoneum. It occurs mainly in children below the age of 5 years. About 200 cases have been reported in the literature so far, very few of them in new-borns. The prognosis of this tumor is relatively good compared to adult forms. We report an unusual case of CIFS occurring in new-born mimicking an hemangioma and causing hemorrhage in the neonatal period. The tumor is located in the left arm and axilla and associated with a hand malformation. A shoulder amputation is performed after chemotherapy failure. The infant is now two-years old with no recurrence.

Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

Science.gov (United States)

Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

2015-11-01

Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. Copyright © 2015 Elsevier Inc. All rights reserved.

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Competing Grain Boundary and Interior Deformation Mechanisms with Varying Sizes

Energy Technology Data Exchange (ETDEWEB)

Zhang, Wei [University of Tennessee (UT); Gao, Yanfei [ORNL; Nieh, T. G. [University of Tennessee, Knoxville (UTK)

2018-01-01

In typical coarse-grained alloys, the dominant plastic deformations are dislocation gliding or climbing, and material strengths can be tuned by dislocation interactions with grain boundaries, precipitates, solid solutions, and other defects. With the reduction of grain size, the increase of material strengths follows the classic Hall-Petch relationship up to nano-grained materials. Even at room temperatures, nano-grained materials exhibit strength softening, or called the inverse Hall-Petch effect, as grain boundary processes take over as the dominant deformation mechanisms. On the other hand, at elevated temperatures, grain boundary processes compete with grain interior deformation mechanisms over a wide range of the applied stress and grain sizes. This book chapter reviews and compares the rate equation model and the microstructure-based finite element simulations. The latter explicitly accounts for the grain boundary sliding, grain boundary diffusion and migration, as well as the grain interior dislocation creep. Therefore the explicit finite element method has clear advantages in problems where microstructural heterogeneities play a critical role, such as in the gradient microstructure in shot peening or weldment. Furthermore, combined with the Hall-Petch effect and its breakdown, the above competing processes help construct deformation mechanism maps by extending from the classic Frost-Ashby type to the ones with the dependence of grain size.

Congenital heart defects in children with oral clefts

Directory of Open Access Journals (Sweden)

Nahvi H.

2007-09-01

Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

Magnetic resonance imaging of congenital heart disease

International Nuclear Information System (INIS)

Fletcher, B.D.; Jacobstein, M.D.

1988-01-01

Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity

Application of Ponseti method in patients older than 6 months with congenital talipes equinovarus.

Science.gov (United States)

Wang, Yan-zhou; Wang, Xiao-wen; Zhang, Peng; Wang, Xing-shan

2009-08-18

To evaluate the effectiveness of Ponseti method in the treatment of congenital talipes equinovarus (CTE) in children older than 6 months. Ponseti method was used to treat 157 cases (227 feet) of CTE in children older than 6 months. All cases were classified by age and by the degree of deformity severity. The age group classification was: (1) I Group (6 months to 12 months), 113 feet in 81 cases; (2) II Group (1 to 3 years old), 78 feet in 52 cases; (3) III Group (> 3 years old), 36 feet in 24 cases. The degree of deformity of CTE was evaluated with Pirani scoring system. The cases were classified into three groups according to the deformity degree: (1) Mild Group (scoring 1-2.5), 85 feet in 56 cases; (2) Moderate Group (scoring 3-4.5), 104 feet in 71 cases; (3) Severe Group (scoring 5-6), 38 feet in 30 cases. A Pirani score of 0-0.5 is regarded as an excellent result. For each group, we evaluated the number of casts used, the percentage of excellent result according to the Pirani score, and the percentage of percutaneous achillotenotomy. The result was compared among different groups. The overall percentage of excellent result among all cases was 96.92%. Among the age groups, the percentage of excellence was not statistically different between I Group and II Group (P > 0.05). The percentage of excellence was lower in the III group than the other groups (P > 0.01). Among the groups classified by deformity degree, the percentage of excellence was the lowest in severe group (P 0.05). The number of casts used among different groups were different (P 0.05). Using Ponseti method to treat CTE for children older than 6 months can achieve excellent results in this study.

Custom-made silicone hand prosthesis: A case study.

Science.gov (United States)

Nayak, S; Lenka, P K; Equebal, A; Biswas, A

2016-09-01

Up to now, a cosmetic glove was the most common method for managing transmetacarpal (TMC) and carpometacarpal (CMC) amputations, but it is devoid of markings and body color. At this amputation level, it is very difficult to fit a functional prosthesis because of the short available length, unsightly shape, grafted skin, contracture and lack of functional prosthetic options. A 30-year-old male came to our clinic with amputation at the 1st to 4th carpometacarpal level and a 5th metacarpal that was projected laterally and fused with the carpal bone. The stump had grafted skin, redness, and an unhealed suture line. He complained of pain projected over the metacarpal and suture area. The clinical team members decided to fabricate a custom-made silicone hand prosthesis to accommodate the stump, protect the grafted skin, improve the hand's appearance and provide some passive function. The custom silicone hand prosthesis was fabricated with modified flexible wires to provide passive interphalangeal movement. Basic training, care and maintenance instructions for the prosthesis were given to the patient. The silicone hand prosthesis was able to restore the appearance of the lost digits and provide some passive function. His pain (VAS score) was reduced. Improvement in activities of daily living was found in the DASH questionnaire and Jebsen-Taylor Hand Function test. A silicone glove is a good option for more distal amputations, as it can accommodate any deformity, protect the skin, enhance the appearance and provide functional assistance. This case study provides a simple method to get passively movable fingers after proximal hand amputation. Copyright © 2016. Published by Elsevier Masson SAS.

A rare combination: congenital factor VII deficiency with Chiari malformation.

Science.gov (United States)

Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

2015-12-01

Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

Science.gov (United States)

Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

2015-10-01

Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

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Debangshu Ghosh

2015-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

Differences in the cyclic deformation behaviour of quenched and tempered steel 42 CrMo 4 (AISI 4140) due to stress- and strain-control

International Nuclear Information System (INIS)

Schulze, V.; Lang, K.-H.; Voehringer, O.; Macherauch, E.

1998-01-01

Cyclic stress-strain-curves and Manson-Coffin-plots of quenched and tempered steel 42 CrMo 4 (AISI 4140) strongly depend on whether they are determined under stress- or total-strain-control. At total-strain-controlled experiments, this is caused on the one hand by comparatively high initial stress-amplitudes which lead to distinctive cyclic work softening. On the other hand, the occuring differences in the evolution of inhomogeneous deformation patterns at both types of loading, which can be recorded by means of photoelasticity and microscopy, lead to differently distributed plastic deformations and to different integral values of plastic strain. (orig.)

Increased arterial stiffness in children with congenital heart disease.

Science.gov (United States)

Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

2018-01-01

Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia.

Science.gov (United States)

Ito, Ai; Fujinaga, Hideshi; Matsui, Sachiko; Tago, Kumiko; Iwasaki, Yuka; Fujino, Shuhei; Nagasawa, Junko; Amari, Shoichiro; Kaneshige, Masao; Wada, Yuka; Takahashi, Shigehiro; Tsukamoto, Keiko; Miyazaki, Osamu; Yoshioka, Takako; Ishiguro, Akira; Ito, Yushi

2017-10-01

Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion  We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

Comparing the Prevalence of Handedness between Normal and Congenitally Deaf Students in Age Intervals of 12 to 18 Years in Tehran

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Zahra Jafari

2007-04-01

Full Text Available Objective: Handedness is the most prominent behavioral asymmetry in human. The term of hand preference points to prefer hand or functional asymmetry in manual tasks. The items were considered in this study were: the comparison of handedness between normal and congenitally deaf students the effects of age, sex, and pressure on using right hand for unimanual tasks on handedness the frequency of left-handers among student’s families, the influence of hand preference on English language capabilities, and the point of view of people rather to left-handers have been investigated. Materials & Methods: This cross-sectional comparative study was conducted on 760 students including 380 normal students and 380 deaf students with congenital severe or profound sensory-neural hearing loss from 12 to 18 years of age by that were selected purposefully, completing Edinburg handedness inventory in Tehran. The students didn’t have any confirmed diseases or neurological disorders, except hearing loss in deaf student. Data were gathered through the completion of the Edinburg Handedness Inventory by the students. The student’s aural records and also the confirmation of the audiologist in the deaf schools were considered in order to determine the kind and degree of hearing loss. Results: The prevalence of left-handedness among normal (9.7% and deaf (10.3% students were near to each other, and there was no significant difference between them (P=0.901, z=-1.24. The prevalence of left-handedness was higher in boys rather than girls, but there was no significant influence of sex and age on results (P>0.05. The family and/or teacher pressure for using right hand was 16.0% in normal students and 5.0% in deaf students, and they didn’t report any strict pressure or severity regard this mater. The frequency of left-handers was higher among family of normal students (22.6% than deaf students (13.2%, and the difference between them was significant statistically (P=0

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

1986-01-01

In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

2016-01-01

Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

Multiple intramedullary nailing of proximal phalangeal fractures of hand

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Patankar Hemant

2008-01-01

Full Text Available Background: Proximal phalangeal fractures are commonly encountered fractures in the hand. Majority of them are stable and can be treated by non-operative means. However, unstable fractures i.e. those with shortening, displacement, angulation, rotational deformity or segmental fractures need surgical intervention. This prospective study was undertaken to evaluate the functional outcome after surgical stabilization of these fractures with joint-sparing multiple intramedullary nailing technique. Materials and Methods: Thirty-five patients with 35 isolated unstable proximal phalangeal shaft fractures of hand were managed by surgical stabilization with multiple intramedullary nailing technique. Fractures of the thumb were excluded. All the patients were followed up for a minimum of six months. They were assessed radiologically and clinically. The clinical evaluation was based on two criteria. 1. total active range of motion for digital functional assessment as suggested by the American Society for Surgery of Hand and 2. grip strength. Results: All the patients showed radiological union at six weeks. The overall results were excellent in all the patients. Adventitious bursitis was observed at the point of insertion of nails in one patient. Conclusion: Joint-sparing multiple intramedullary nailing of unstable proximal phalangeal fractures of hand provides satisfactory results with good functional outcome and fewer complications.

Introduction to the Congenital Heart Defects: Anatomy of the Conduction System.

Science.gov (United States)

Moore, Jeremy P; Aboulhosn, Jamil A

2017-06-01

The position and course of the conduction system in congenital heart disease are intricately tied to the underlying congenital malformation. Although only subtle differences exist between the anatomy of the conduction axis for simple congenital heart lesions and normal anatomy, almost every patient with congenital heart disease harbors some important anatomic variation. This article summarizes the body of literature by retaining original classical concepts and by attempting to translate the available knowledge into useful points for the congenital heart disease specialist. This discussion spans the entire spectrum of simple to complex congenital heart disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Comparison between the incidence of right and left sided congenital torticollis

International Nuclear Information System (INIS)

Aslam, S.; Bashir, M.S.; Hussain, S.I.

2013-01-01

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)

CT appearance of congenital defect resembling the Hangman's fracture

International Nuclear Information System (INIS)

Williams, J.P. III; Baker, D.H.; Miller, W.A.

1999-01-01

Purpose. Congenital defects of C2 are rare and can be confused with Hangman's fractures. CT has been advocated as aiding in differentiation between an acute fracture and congenital defects. Methods. We present a case of a 2-year-old recent accident victim, who was erroneously diagnosed by plain film and CT as having a Hangman's fracture. Results. The CT demonstrated an atypical appearance of a congenital defect. Conclusion. This case shows that the radiographic differentiation between a Hangman's fracture and a congenital defect is more difficult than previously described. (orig.)

Congenital cytomegalovirus infection: disease burden and screening tools : towards newborn screening

OpenAIRE

Vries, Jutte Jacoba Catharina de

2012-01-01

Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature of the hearing loss, up to half of the children with congenital CMV-related hearing loss may not be detected in the newborn hearing screening. This thesis addresses several aspects of congenital CM...

Postural & striatal deformities in Parkinson`s disease: Are these rare?

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Sanjay Pandey

2016-01-01

Full Text Available Parkinson`s disease (PD is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.

Congenital malformations in paediatric and neurosurgical practices ...

African Journals Online (AJOL)

Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

The changing epidemiology of congenital heart disease

NARCIS (Netherlands)

van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.

2011-01-01

Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

M to T Rearrangement: An Approach to Correct Webbed Neck Deformity

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Ananth S. Murthy

2014-01-01

Full Text Available For the Noonan syndrome patient, the most concerning physical defect is often congenital webbing of the neck or pterygium colli. We present a patient with pterygium colli and a low and laterally displaced nuchal hairline. Since its description, various surgical approaches have been implemented to correct the deformity. Previously reported posterior and lateral approaches have notable disadvantages with regard to hairline displacement and recurrence. In order to address these disadvantages, a new surgical technique was used on this patient. We have termed this technique an M to T rearrangement. Using a lateral approach, the M and T incisions are made and the trapezial fascial web is directly visualized and able to be completely excised. This prevents the recurrence seen with the use of posterior techniques. Inferolateral displacement of hair-bearing skin can be removed with resection of the superior intervening triangle and improves the appearance of the low nuchal hairline. The excision of excess skin along with the zig-zag closure also prevents postoperative scar contraction and recurrence. An important effect of this technique is the prevention of anterior displacement of hair bearing skin. M to T rearrangement is an effective technique for the correction of webbed neck deformities seen in Noonan and Turner syndromes.

Congenital neutropenia: diagnosis, molecular bases and patient management

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Chantelot Christine

2011-05-01

Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

MR imaging of congenital heart disease

International Nuclear Information System (INIS)

Kersting-Sommerhoff, B.A.; Diethelm, L.; Teitel, D.F.; Sommerhoff, C.P.; Higgins, C.B.

1988-01-01

Sensitivity and specificity of MR imaging for the evaluation of congenital heart disease was assessed in 51 patients (31 male and 20 female, aged 3-69 years), with a total of 115 congenital heart lesions. The true diagnosis was established by angiocardiography, catheterization, or surgery. Sensitivity at a specificity level of 90% was determined by means of receiver operating characteristic curves for great vessel relationships (100%), thoracic aorta anomalies (94%), atrial (91%) and ventricular (100%) septal defects, visceroatrial situs (100%), loop (100%), right ventricular outflow obstructions (95%), aortic valve (52%), mitral valve (62%), and tricuspid valve (76%). Spin-echo MR imaging is a reliable method for the noninvasive evaluation of congenital heart disease but is limited in the assessment of some valvular anomalies

Evaluation of fingerprint deformation using optical coherence tomography

Science.gov (United States)

Gutierrez da Costa, Henrique S.; Maxey, Jessica R.; Silva, Luciano; Ellerbee, Audrey K.

2014-02-01

Biometric identification systems have important applications to privacy and security. The most widely used of these, print identification, is based on imaging patterns present in the fingers, hands and feet that are formed by the ridges, valleys and pores of the skin. Most modern print sensors acquire images of the finger when pressed against a sensor surface. Unfortunately, this pressure may result in deformations, characterized by changes in the sizes and relative distances of the print patterns, and such changes have been shown to negatively affect the performance of fingerprint identification algorithms. Optical coherence tomography (OCT) is a novel imaging technique that is capable of imaging the subsurface of biological tissue. Hence, OCT may be used to obtain images of subdermal skin structures from which one can extract an internal fingerprint. The internal fingerprint is very similar in structure to the commonly used external fingerprint and is of increasing interest in investigations of identify fraud. We proposed and tested metrics based on measurements calculated from external and internal fingerprints to evaluate the amount of deformation of the skin. Such metrics were used to test hypotheses about the differences of deformation between the internal and external images, variations with the type of finger and location inside the fingerprint.

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

International Nuclear Information System (INIS)

Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M.

2007-01-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

Energy Technology Data Exchange (ETDEWEB)

Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M. [Pusan National University Hospital, Pusan (Korea, Republic of)

2007-07-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography.

The art and science of photography in hand surgery.

Science.gov (United States)

Wang, Keming; Kowalski, Evan J; Chung, Kevin C

2014-03-01

High-quality medical photography plays an important role in teaching and demonstrating the functional capacity of the hands as well as in medicolegal documentation. Obtaining standardized, high-quality photographs is now an essential component of many surgery practices. The importance of standardized photography in facial and cosmetic surgery has been well documented in previous studies, but no studies have thoroughly addressed the details of photography for hand surgery. In this paper, we provide a set of guidelines and basic camera concepts for different scenarios to help hand surgeons obtain appropriate and informative high-quality photographs. A camera used for medical photography should come equipped with a large sensor size and an optical zoom lens with a focal length ranging anywhere from 14 to 75 mm. In a clinic or office setting, we recommend 6 standardized views of the hand and 4 views for the wrist; additional views should be taken for tendon ruptures, nerve injuries, or other deformities of the hand. For intraoperative pictures, the camera operator should understand the procedure and pertinent anatomy in order to properly obtain high-quality photographs. When digital radiographs are not available and radiographic film must be photographed, it is recommended to reduce the exposure and change the color mode to black and white to obtain the best possible pictures. The goal of medical photography is to present the subject in an accurate and precise fashion. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Congenital Heart Diseases associated with Identified Syndromes ...

African Journals Online (AJOL)

Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

Health in adults with congenital heart disease

NARCIS (Netherlands)

Cuypers, Judith A. A. E.; Utens, Elisabeth M. W. J.; Roos-Hesselink, Jolien W.

2016-01-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many

[Symptoms. Localizations: knee, hip, hands, spine, other localizations].

Science.gov (United States)

Pérez Martín, Álvaro

2014-01-01

The symptoms of osteoarthritis vary widely from patient to patient, depending especially on the localization on the disease. There is a poor correlation between radiological involvement and pain. In general, symptom onset is gradual and symptoms increase slowly but progressively. The most commonly affected joints are the knees, hips, hands, and spine. The main signs and symptoms are pain, stiffness, joint deformity, and crepitus. Pain is mechanical and its causes are multifactorial; in the initial phases, pain usually manifests in self-limiting episodes but may subsequently be almost constant. The criteria of the American college of Rheumatology for the classification of osteoarthritis of the knee, hip and hands are an aid to classification and standardization but are not useful for diagnosis. Hip osteoarthritis usually produces inguinal pain in the internal and anterior sections of the muscle extending to the knee and, with progression, tends to limit mobility. Knee osteoarthritis is more frequent in women and is usually associated with hand osteoarthritis and obesity. In hand osteoarthritis, the most commonly affected joints are the distal interphalangeal joints, followed by the proximal interphalangeal joints and the trapeziometacarpal joints; the development of Heberden and Bouchard nodes is common; involvement of the trapeziometacarpal joint is called rhizarthrosis and is one of the forms of osteoarthritis that produces the greatest limitation on hand function. Osteoarthritis of the spine affects the facet joints and the vertebral bodies. Other, less frequent, localizations are the foot, elbow and shoulder, which are generally secondary forms of osteoarthritis. Copyright © 2014 Elsevier España, S.L. All rights reserved.

Cardiovascular magnetic resonance in congenital heart disease

International Nuclear Information System (INIS)

Cazacu, A.; Ciubotaru, A.

2010-01-01

The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

The heart: Congenital disease

International Nuclear Information System (INIS)

Higgins, C.B.

1987-01-01

The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

Frequency of Congenital Cardiac Malformations in the Neonates with Congenital Hypothyroidism

Directory of Open Access Journals (Sweden)

yazdan ghandi

2018-05-01

Full Text Available Background: Congenital hypothyroidism (CH is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD in the neonates with CH.Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital cardiac anomalies between the neonates with the confirmed diagnosis of CH (TSH≥10 mlU/ml and healthy infants. The study was performed in Kowsar Clinic affiliated to Arak University of Medical Sciences, Iran. Level of thyroid-stimulating hormone (TSH was measured within days 3-7 of birth using the samples collected from the soles of the neonates. In addition, all the subjects were evaluated for the presence of CHD using echocardiography before day 30 of life.Results: In total, 79 neonates were enrolled in the study. The case group consisted of 34 females (43.04% and 45 males (53.96%, and the control group consisted of 43 females (54.43% and 36 males (45.57%. The groups were matched in terms of age and gender. Cardiac involvement was only detected in the case group (CH infants with the prevalence of 22.7%. Among the non-cyanotic malformations observed in the case group, one infant had ventricular septal defect (1.3%, eight infants had atrial septal defect (10.1%, three infants had patent ductus arteriosus (3.8%, three neonates had endocardial cushion defect (3.8%, two neonates had pulmonary stenosis (2.5%, and one infant had dilated cardiomyopathy (1.3%. Moreover, six neonates were diagnosed with Down syndrome. All the infants with endocardial cushion defect (n=3 had Down syndrome, and no significant association was observed between TSH and thyroxine (T4 in the presence of CHD.Conclusion: According to the results, the high prevalence of cardiac malformations in the neonates with CH necessitated cardiac examinations using echocardiography.

Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

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Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

1983-06-01

Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

An instrumented object for hand exercise and assessment using a pneumatic pressure sensor

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Mohan, A.; Tharion, G.; Kumar, R. K.; Devasahayam, S. R.

2018-05-01

Measurement of grip force is important for both exercise training and assessment of the hand during physical rehabilitation. The standard method uses a grip dynamometer which measures the force between the fingers and opposing thumb. The primary limitation of the grip dynamometer is the restriction of measurement to cylindrical grasps. Any deformation of the hand due to muscular or skeletal disease makes the grip dynamometer difficult or impossible to use. An alternative to the grip dynamometer is a sealed pneumatic object that can be gripped by the hand. Measurement of the internal pressure in the object can be related to the grip force. In this paper, we analyze such a pneumatic pressure sensing object for hand grip assessment and also describe an easy fabrication of the grip sensor. The instrumented object presented in this paper is designed to assess both the maximal voluntary grip forces and continuous grip force to monitor control of hand function during exercise under instruction from a therapist. Potential uses of such a pneumatic pressure sensing object for hand grip are in physical rehabilitation of patients following paralysing illnesses like stroke and spinal cord injury.

Magnetic resonance imaging in congenital superior oblique palsy

International Nuclear Information System (INIS)

Sato, Miho; Kondo, Nagako; Awaya, Shinobu; Nomura, Hideki; Yagasaki, Teiji.

1996-01-01

MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

Effect of Sn addition on the microstructure and deformation behavior of Mg-3Al alloy

International Nuclear Information System (INIS)

Suh, Byeong-Chan; Kim, Jae H.; Bae, Jun Ho; Hwang, Ji Hyun; Shim, Myeong-Shik; Kim, Nack J.

2017-01-01

Mg alloys generally suffer from their poor formability at low temperatures due to their strong basal texture and a lack of adequate deformation systems. In the present study, a small amount of Sn was added instead of Zn to Mg-3Al alloy to modify its deformation behavior and improve the stretch formability. Microstructural examinations of the deformed Mg-3Al-1Sn (AT31) alloy by electron backscatter diffraction and transmission electron microscopy show that prismatic slip is quite active during deformation, resulting in much lower r-values and planar anisotropy than the counterpart Mg-3Al-1Zn (AZ31) alloy. Polycrystal plasticity simulation based on visco-plasticity self-consistent (VPSC) model also shows that prismatic slip is the dominant deformation mode in AT31 alloy besides basal slip. As a consequence, AT31 alloy shows a much higher stretch formability than AZ31 alloy. On the other hand, AZ31 alloy shows the development of intense shear bands during stretch forming, and these shear bands act as crack propagating paths, limiting the stretch formability of AZ31 alloy.

Myocardial Architecture, Mechanics, and Fibrosis in Congenital Heart Disease

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Sarah Ghonim

2017-05-01

Full Text Available Congenital heart disease (CHD is the most common category of birth defect, affecting 1% of the population and requiring cardiovascular surgery in the first months of life in many patients. Due to advances in congenital cardiovascular surgery and patient management, most children with CHD now survive into adulthood. However, residual and postoperative defects are common resulting in abnormal hemodynamics, which may interact further with scar formation related to surgical procedures. Cardiovascular magnetic resonance (CMR has become an important diagnostic imaging modality in the long-term management of CHD patients. It is the gold standard technique to assess ventricular volumes and systolic function. Besides this, advanced CMR techniques allow the acquisition of more detailed information about myocardial architecture, ventricular mechanics, and fibrosis. The left ventricle (LV and right ventricle have unique myocardial architecture that underpins their mechanics; however, this becomes disorganized under conditions of volume and pressure overload. CMR diffusion tensor imaging is able to interrogate non-invasively the principal alignments of microstructures in the left ventricular wall. Myocardial tissue tagging (displacement encoding using stimulated echoes and feature tracking are CMR techniques that can be used to examine the deformation and strain of the myocardium in CHD, whereas 3D feature tracking can assess the twisting motion of the LV chamber. Late gadolinium enhancement imaging and more recently T1 mapping can help in detecting fibrotic myocardial changes and evolve our understanding of the pathophysiology of CHD patients. This review not only gives an overview about available or emerging CMR techniques for assessing myocardial mechanics and fibrosis but it also describes their clinical value and how they can be used to detect abnormalities in myocardial architecture and mechanics in CHD patients.

Dupuytren’s contracture of hand and its medical and social review

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V. O. Vishnevskiy

2014-02-01

Full Text Available Introduction Dupuytren's contracture is a disease of connective tissue with the affection of palmar aponeurosis, frequently with chronic recurrent course, the flexion deformities of fingers and dysfunction of the hand. It composed 11,8 % among of all types of the hand pathology. The mostly it develops in men of middle-aged and elderly. At young age it occurs more rarely, but with fast progressing current, which in 67 % of cases leads to impaired ability to perform professional hand-work and in 3 % patients to physical inability. Predisposing factors for this fibromatosis are numerous, but one of the popular opinion among of authors is a hereditary character of disease. In clinical practice, the most frequently used fourth degree’s classification of Dupuytren's contracture includes severity of deformation and function disorders of the hand. It is correspond to the normative standards of medical and social expertise The aim of research: to specify the most optimal methods of surgical treatment, the criteria of medical and social examination and rehabilitation, clinical and labor prognosis, indications to establishment of disability after operations concerning of Dupuytren’s contracture. In our clinic was performed three methods of operation: aponeurotomia “open hand”, partial aponeuroectomia, total aponeuroectomia. Errors in the treatment of palmar fibromatosis we shared on: preoperated, intraoperated and associated with violations of the mode of rehabilitation. The next clinical observation of 68 patients (up to 3 years after surgery with Dupuytren’s contracture of hand showed the recurrence rate amounted to 31,7%, and physical inability level is 5,9% of cases. In our opinion the most optimal operative methodic is total aponeuroectomia with rational surgical approaches. Clinical and labour prognosis depends on the manifestations of disease which can develop regardless of the stage, methods of treatment and patient's age. Disadvantageous

Prenatal education for congenital toxoplasmosis.

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Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

2015-10-23

Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

Congenital anophthalmia: current concepts in management.

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Quaranta-Leoni, Francesco M

2011-09-01

The introduction of hydrogel socket and orbital expanders has modified the approach towards the rehabilitation of congenital anophthalmia. This study highlights the most recent advances for the treatment of congenital anophthalmia based on personal experience and the review of recent literature. Hydrogel socket expanders may be positioned as an out-patient procedure with topical anaesthesia, using cyanoacrylate glue as opposed to temporary tarsorraphy. Increased orbital volume has been confirmed by computed tomography (CT) scan or magnetic resonance imaging (MRI) following early dermis-fat graft in children with congenital anophthalmia. An orbital tissue expander made of an inflatable silicone globe sliding on a titanium T-plate and secured to the lateral orbital rim appears to be effective to stimulate orbital bone growth and development. Congenital anophthalmia has a complex cause with both genetic and environmental factors involved. The ideal treatment is simultaneous expansion of the eyelids, socket and orbital bones, and it should begin after birth as soon as possible. Socket expansion with self-inflating expanders is a useful technique, although custom-made conformers may produce similar results. Dermis-fat grafts are another reasonable option as an orbital implant, following adequate lid and socket expansion.

Genetics Home Reference: congenital central hypoventilation syndrome

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... Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit ... BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr ...

Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.

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Menezes, Gláucia Aparecida; Araujo Júnior, Edward; Lopes, Jorge; Belmonte, Simone; Tonni, Gabriele; Werner, Heron

2016-08-01

Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team. © 2016 Japan Society of Obstetrics and Gynecology.

Optimization of physical rehabilitation in congenital clubfoot

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M.L. Golovakha

2013-09-01

Full Text Available The aim of the study was to improve the results of treatment of children with typical form of congenital clubfoot by optimizing of physical rehabilitation. The study included the following objectives: to make the algorithm work with the child, to justify the basis of physical rehabilitation, to study its effects, to develop a framework of implementation and optimization of the physical rehabilitation of children with congenital clubfoot. In the course of the study were 62 children involved with the typical form of congenital clubfoot: the main group (n = 42 and control group (n = 42. Age children from 4 years to 7 years. Physical rehabilitation was a logical continuation of treatment. Optimization analysis was performed by clinical examination, radiometric data and indicators of functional methods of research. Comparative analysis of the results of the physical rehabilitation of children with congenital clubfoot in both groups showed a trend more pronounced positive changes in children the main group in all respects.

Mesenchymal neoplasia and congenital pulmonary cysts

International Nuclear Information System (INIS)

Weinberg, A.G.; Currarino, G.; Moore, G.C.; Votteler, T.P.

1980-01-01

A malignant mesenchymoma exibiting a varied spectrum of differentation developed within a congenital pulmonary cyst 6 1/2 years after the cyst was first recognized. Related tumors with a similar gross appearance have been previously described and have included rhabdomyosarcomas and so-called pulmonary blastomas. There is a low but distinct risk for the developement of mesenchymal sarcomas within congenital peripheral pulmonary cysts. (orig.) [de

Strengthening and stretching for rheumatoid arthritis of the hand (SARAH: design of a randomised controlled trial of a hand and upper limb exercise intervention - ISRCTN89936343

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Adams Jo

2012-11-01

Full Text Available Abstract Background Rheumatoid Arthritis (RA commonly affects the hands and wrists with inflammation, deformity, pain, weakness and restricted mobility leading to reduced function. The effectiveness of exercise for RA hands is uncertain, although evidence from small scale studies is promising. The Strengthening And Stretching for Rheumatoid Arthritis of the Hand (SARAH trial is a pragmatic, multi-centre randomised controlled trial evaluating the clinical and cost effectiveness of adding an optimised exercise programme for hands and upper limbs to best practice usual care for patients with RA. Methods/design 480 participants with problematic RA hands will be recruited through 17 NHS trusts. Treatments will be provided by physiotherapists and occupational therapists. Participants will be individually randomised to receive either best practice usual care (joint protection advice, general exercise advice, functional splinting and assistive devices or best practice usual care supplemented with an individualised exercise programme of strengthening and stretching exercises. The study assessors will be blinded to treatment allocation and will follow participants up at four and 12 months. The primary outcome measure is the Hand function subscale of the Michigan Hand Outcome Questionnaire, and secondary outcomes include hand and wrist impairment measures, quality of life, and resource use. Economic and qualitative studies will also be carried out in parallel. Discussion This paper describes the design and development of a trial protocol of a complex intervention study based in therapy out-patient departments. The findings will provide evidence to support or refute the use of an optimised exercise programme for RA of the hand in addition to best practice usual care. Trial registration Current Controlled Trials ISRCTN89936343

Macrodystrophia lipomatosa – MR imaging of a rare congenital anomaly: review of 3 cases

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Pallavi Aga

2010-12-01

Full Text Available Macrodystrophia lipomatosa (MDL results from progressive overgrowth of all the mesenchymal elements, with a disproportionate increase in fibro-adipose tissue. This rare congenital abnormality occurs most frequently in the distribution of the median nerve in the upper, and medial plantar nerve in the lower, extremity. Excess of unencapsulated fibro-adipose tissue on magnetic resonance imaging (MRI is virtually diagnostic and can differentiate this entity from other diseases with similar presentations. Involvement of the ulnar aspect of the hand, though rare, has been described; however, the lateral aspect of the foot as seen in our second case has not been reported, to the best of our knowledge.

Congenital syphilis

International Nuclear Information System (INIS)

Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

1983-01-01

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%)

Deformation-specific and deformation-invariant visual object recognition: pose vs identity recognition of people and deforming objects

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Tristan J Webb

2014-04-01

Full Text Available When we see a human sitting down, standing up, or walking, we can recognise one of these poses independently of the individual, or we can recognise the individual person, independently of the pose. The same issues arise for deforming objects. For example, if we see a flag deformed by the wind, either blowing out or hanging languidly, we can usually recognise the flag, independently of its deformation; or we can recognise the deformation independently of the identity of the flag. We hypothesize that these types of recognition can be implemented by the primate visual system using temporo-spatial continuity as objects transform as a learning principle. In particular, we hypothesize that pose or deformation can be learned under conditions in which large numbers of different people are successively seen in the same pose, or objects in the same deformation. We also hypothesize that person-specific representations that are independent of pose, and object-specific representations that are independent of deformation and view, could be built, when individual people or objects are observed successively transforming from one pose or deformation and view to another. These hypotheses were tested in a simulation of the ventral visual system, VisNet, that uses temporal continuity, implemented in a synaptic learning rule with a short-term memory trace of previous neuronal activity, to learn invariant representations. It was found that depending on the statistics of the visual input, either pose-specific or deformation-specific representations could be built that were invariant with respect to individual and view; or that identity-specific representations could be built that were invariant with respect to pose or deformation and view. We propose that this is how pose-specific and pose-invariant, and deformation-specific and deformation-invariant, perceptual representations are built in the brain.

Stringy correlations on deformed AdS{sub 3}×S{sup 3}

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Roychowdhury, Dibakar [Department of Physics, Ben-Gurion University of The Negev,P.O. Box 653, Beer-Sheva 84105 (Israel)

2017-03-08

In this paper, following the basic prescriptions of Gauge/String duality, we perform a strong coupling computation on classical two point correlation between local (single trace) operators in a gauge theory dual to κ-deformed AdS{sub 3}×S{sup 3} background. Our construction is based on the prescription that relates every local operator in a gauge theory to that with the (semi)classical string states propagating within the physical region surrounded by the holographic screen in deformed AdS{sub 3}. In our analysis, we treat strings as being that of a point like object located near the physical boundary of the κ-deformed Euclidean Poincare AdS{sub 3} and as an extended object with non trivial dynamics associated to S{sup 3}. It turns out that in the presence of small background deformations, the usual power law behavior associated with two point functions is suppressed exponentially by a non trivial factor which indicates a faster decay of two point correlations with larger separations. On the other hand, in the limit of large background deformations (κ≫1), the corresponding two point function reaches a point of saturation. In our analysis, we also compute finite size corrections associated with these two point functions at strong coupling. As a consistency check of our analysis, we find perfect agreement between our results to that with the earlier observations made in the context of vanishing deformation.

Demographic features of subjects with congenital glaucoma

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Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

2014-01-01

Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

Deprivation amblyopia and congenital hereditary cataract.

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Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

2013-01-01

Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

A systematic review of trends and patterns of congenital heart ...

African Journals Online (AJOL)

Background: Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. Objectives: To determine the patterns of congenital heart disease in children in ...

Congenital ossicular malformation. A study of 27 ears

International Nuclear Information System (INIS)

Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

2010-01-01

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)

Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

International Nuclear Information System (INIS)

Sajid, N.; Ahmed, N.; Mahmood, S.

2010-01-01

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)

Congenital lobar emphysema: Is surgery routinely necessary ...

African Journals Online (AJOL)

Congenital lobar emphysema (CLE) is a rare congenital abnormality characterised by overinflation of a pulmonary lobe. Its aetiology is unknown. The management of CLE has traditionally been surgical. A newborn boy with a birthweight of 2.5 kg was delivered at full-term by caesarian section due to food delivery.

Four novel ELANE mutations in patients with congenital neutropenia.

Science.gov (United States)

Kurnikova, Maria; Maschan, Michael; Dinova, Evgeniya; Shagina, Irina; Finogenova, Natalia; Mamedova, Elena; Polovtseva, Tatyana; Shagin, Dmitry; Shcherbina, Anna

2011-08-01

Congenital neutropenia is a heterogeneous bone marrow failure syndrome characterized by a maturation arrest of myelopoesis at the promyelocyte/myelocyte stage. Cyclic neutropenia (CyN) and severe congenital neutropenia (SCN) are two main forms of congenital neutropenia. Genetic analysis has shown that heterozygous mutations in the ELANE gene encoding the neutrophil elastase are the major cause of these disorders. We investigated the prevalence of ELANE mutations in a group of 16 patients from 14 families with congenital neutropenia. Five patients had typical manifestations of CyN, and 11 patients had SCN. Seven different heterozygous ELANE mutations were found, including four novel mutations. Copyright © 2011 Wiley-Liss, Inc.

[Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

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Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

2007-02-01

To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

Renal abnormalities in congenital chloride diarrhea

International Nuclear Information System (INIS)

Al-Hamad, Nadia M.; Al-Eisa, Amal A.

2004-01-01

Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

Common congenital malformations of the brain

International Nuclear Information System (INIS)

Naidich, T.P.; Zimmerman, R.A.

1987-01-01

In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

Antenatal diagnosis of congenital deafness.

Science.gov (United States)

Isaacson, G

1988-01-01

Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

MRI of congenital urethroperineal fistula

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Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

2010-12-15

We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

MRI of congenital urethroperineal fistula

International Nuclear Information System (INIS)

Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael; Park, John

2010-01-01

We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

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

International Nuclear Information System (INIS)

Li Xin; Li Minglin; Yang Zhiyong

1997-01-01

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

Optical Force Sensor for the DEXMART Hand Twisted String Actuation System

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Gianluca PALLI

2013-01-01

Full Text Available In this paper, the force sensor developed for the twisted string actuation system of the DEXMART Hand is described. The proposed solution makes use of optoelectronic components for measuring the deformation of the properly designed motor module structure caused by the force applied to the tendon transmission system. The paper reports the working principle, the calibration and the characterization of the sensor in terms of sensitivity, repeatability, full-scale and Signal-to-Noise ratio.

Genetically caused congenital anomalies of reproductive system

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L. F. Kurilo

2013-01-01

Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

CT diagnosis of congenital anomalies of the central nervous system

International Nuclear Information System (INIS)

Mori, Koreaki

1980-01-01

In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

Radiological findings of congenital urethral valves

International Nuclear Information System (INIS)

Yeon, Kyung Mo; Kook, Shin Ho

1990-01-01

Congenital urethral valve is the common cause of hydronephrosis in newborn infants and the most common cause of bladder outlet obstruction in male children. We reviewed and analysed radiological findings and associated anomalies of 16 cases of congenital urethral valve which were examined during the period from January 1985 to December 1989. The most frequent age was under one year old (56%). The main symptoms were urinary dribbing (37.5%), weak stream (25%) and urinary frequency and incontinence (25%). Anterior urethral valve (AUV) was 5 cases (31%) and posterior urethral valve (PUV) was 11 cases(69%), in which 10 cases were Type I and one case was Type III. Bladder wall thickening was seen in all cases and its severity was partly correlated with the degree of vesicoureteral reflux (VUR). VUR was observed in 12 cases (75%), and relatively severe in older age group. The degree of VUR was milder in AUV than PUV. Hydronephrosis was more severe in PUV than in anterior one, and its degree was correlated with the severity of VUR. Associated anomalies were ectopic urethral opening (2 cases), PDA (1 case), congenital megacolon (1 case) and patent urachus (1 case) in PUV. So early diagnosis and treatment of congenital urethral valve is essential to the prevention of renal damage

Study of elastoplastic deformations self-fretting of flat cylinders by mandrelling

International Nuclear Information System (INIS)

Caron, Roger

1974-04-01

An application of the theory of thick tubes to the special case of flat cylinders which have been self-fretted by mandrelling, is presented. The following materials were used: 1 - a soft steel, XC 18 F, considered to be perfectly elastoplastic; 2 - an alloyed steel, 35 NCD 16, designated consolidable. In the first case, the slip trajectories observed on the polished cylinder surface enabled the plastic deformation region to be defined. It was found, in particular, that the average value of the mean boundary radius at the maximum pressure differs very little from that determined using basic formulas. In the second case, the plastic deformations uniformly affect the internal layers, and privileged trajectories do not exist in this region. On the other hand, the ε θ and ε r expansion curves (from deformation measurements), are continuous from the inner radius to the outer radius; the boundary radius was thus localized from considerations of its correspondence with the ε θ -ε r (shearing deformation) at the elastic limit of the material. This characteristic was determined from measurements made using a test piece provided for this purpose. The radii obtained with this method agree with the theoretical radii over only 4/5 of the total deformation, the uncertainty region being taken into consideration. The maximum value of this parameter was determined in such a way as to obtain a return to a completely elastic rest position. (author) [fr

Structural control of elastic moduli in ferrogels and the importance of non-affine deformations

Science.gov (United States)

Pessot, Giorgio; Cremer, Peet; Borin, Dmitry Y.; Odenbach, Stefan; Löwen, Hartmut; Menzel, Andreas M.

2014-09-01

One of the central appealing properties of magnetic gels and elastomers is that their elastic moduli can reversibly be adjusted from outside by applying magnetic fields. The impact of the internal magnetic particle distribution on this effect has been outlined and analyzed theoretically. In most cases, however, affine sample deformations are studied and often regular particle arrangements are considered. Here we challenge these two major simplifications by a systematic approach using a minimal dipole-spring model. Starting from different regular lattices, we take into account increasingly randomized structures, until we finally investigate an irregular texture taken from a real experimental sample. On the one hand, we find that the elastic tunability qualitatively depends on the structural properties, here in two spatial dimensions. On the other hand, we demonstrate that the assumption of affine deformations leads to increasingly erroneous results the more realistic the particle distribution becomes. Understanding the consequences of the assumptions made in the modeling process is important on our way to support an improved design of these fascinating materials.

[Congenital malformations of the temporo-mandibular joint and the mandibular ramus: Grafting vs distraction osteogenesis].

Science.gov (United States)

Gallucci, A; Graillon, N; Foletti, J M; Chossegros, C; Cheynet, F

2016-09-01

Congenital deformities of the mandibular ramus and of the temporo-mandibular joint are treated by surgery since the early 20th century. However, morphological and functional results are often disappointing, accounting for iterative operations. Today, a clear consensus concerning the type of intervention to be proposed, and at what age it should be carried out does not yet exist. For mild cases, "conventional" orthognathic or osteogenic distraction procedures seem to work well, especially if they are carried out at the end of growth. In severe cases, it is often necessary to proceed in several surgical steps, usually starting with a chondrocostal graft, especially when interceptive surgery, performed before the end of growth, is preferred in order to improve the patient's quality of life. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

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C. S. Paththinige

2016-01-01

Full Text Available A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4(p15.3q35 karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-. Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.

An On-Chip RBC Deformability Checker Significantly Improves Velocity-Deformation Correlation

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Chia-Hung Dylan Tsai

2016-10-01

Full Text Available An on-chip deformability checker is proposed to improve the velocity–deformation correlation for red blood cell (RBC evaluation. RBC deformability has been found related to human diseases, and can be evaluated based on RBC velocity through a microfluidic constriction as in conventional approaches. The correlation between transit velocity and amount of deformation provides statistical information of RBC deformability. However, such correlations are usually only moderate, or even weak, in practical evaluations due to limited range of RBC deformation. To solve this issue, we implemented three constrictions of different width in the proposed checker, so that three different deformation regions can be applied to RBCs. By considering cell responses from the three regions as a whole, we practically extend the range of cell deformation in the evaluation, and could resolve the issue about the limited range of RBC deformation. RBCs from five volunteer subjects were tested using the proposed checker. The results show that the correlation between cell deformation and transit velocity is significantly improved by the proposed deformability checker. The absolute values of the correlation coefficients are increased from an average of 0.54 to 0.92. The effects of cell size, shape and orientation to the evaluation are discussed according to the experimental results. The proposed checker is expected to be useful for RBC evaluation in medical practices.

Congenital Scaphoid Megalourethra: A Case Report

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Kenji Obara

2017-09-01

Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

Congenital CMV Infection, An imaging perspective: A case report.

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Dr. Nikunj Patel

2017-12-01

Full Text Available Brain imaging is most important tool for the accurate diagnosis of various congenital CNS infections. Infections of the foetal nervous system results in spectrum of findings that depends upon the inciting agent and the timing of infection. As a general rule earlier the infection, more severe are the findings. Congenital CMV infection can be diagnosed with accuracy with its specific features identified on brain imaging. We present a case of congenital CMV infection in an 8-months-old boy, its clinical presentation, imaging findings and laboratory reports. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection.

Prosthetic management of congenital anophthalmia-microphthalmia patient

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Himanshi Aggarwal

2015-01-01

Full Text Available Congenital anophthalmia and microphthalmia are rare developmental defects of the globe that cause deficient orbitofacial growth and impaired visual capability. Anophthalmia whether congenital or acquired is not just a question of cosmesis. It has many ramifications such as monocular status, loss of facial esthetics and psychological challenges for a growing child. The management of such a patient requires the coordinated involvement of a multidisciplinary team of health care professionals, including pediatrician, pediatric ophthalmologist, geneticist, genetic counselor, oculoplasty surgeon, and prosthetist. This article focuses on the rehabilitation of an adult female patient with congenital anophthalmia who was successfully treated with progressive expansion therapy with custom conformer followed by custom ocular prosthesis.

Influence of fragment deformation and orientation on compact configuration of odd-Z superheavy nuclei

International Nuclear Information System (INIS)

Gurjit Kaur; Sandhu, Kirandeep; Sharma, Manoj K.

2016-01-01

The synthesis of heavy and superheavy nuclei is generally carried out by using hot and cold fusion reaction mechanisms. It has been noticed that, the cold fusion reactions occur at relatively low excitation energies (E*_C_N ∼ 10-20 MeV) whereas, the hot fusion reactions occur at excitation energies of E*_C_N ∼ 30- 50 MeV. The fusion mechanism is quite different in both the processes. In the cold fusion process, the interaction of spherical targets (Pb and Bi) with deformed light mass projectiles occurs. On the other hand, the fusion of deformed actinide targets with spherical "4"8Ca projectile characterize the hot interaction processes. Hence the deformations and orientations of targets and projectiles play extremely important role in the superheavy fusion process. The present analysis is carried out to aggrandize the work of which illustrate the role of deformations and orientations on even superheavy nuclei. Here, we extend this analysis for odd superheavy nuclei. It is relevant to note that the temperature and angular momentum effects are not included in the present analysis

Deformation Partitioning: The Missing Link Between Outcrop-Scale Observations And Orogen-Scale Processes

Science.gov (United States)

Attia, S.; Paterson, S. R.; Jiang, D.; Miller, R. B.

2017-12-01

Structural studies of orogenic deformation fields are mostly based on small-scale structures ubiquitous in field exposures, hand samples, and under microscopes. Relating deformation histories derived from such structures to changing lithospheric-scale deformation and boundary conditions is not trivial due to vast scale separation (10-6 107 m) between characteristic lengths of small-scale structures and lithospheric plates. Rheological heterogeneity over the range of orogenic scales will lead to deformation partitioning throughout intervening scales of structural development. Spectacular examples of structures documenting deformation partitioning are widespread within hot (i.e., magma-rich) orogens such as the well-studied central Sierra Nevada and Cascades core of western North America: (1) deformation partitioned into localized, narrow, triclinic shear zones separated by broad domains of distributed pure shear at micro- to 10 km scales; (2) deformation partitioned between plutons and surrounding metamorphic host rocks as shown by pluton-wide magmatic fabrics consistently oriented differently than coeval host rock fabrics; (3) partitioning recorded by different fabric intensities, styles, and orientations established from meter-scale grid mapping to 100 km scale domainal analyses; and (4) variations in the causes of strain and kinematics within fold-dominated domains. These complex, partitioned histories require synthesized mapping, geochronology, and structural data at all scales to evaluate partitioning and in the absence of correct scaling can lead to incorrect interpretations of histories. Forward modeling capable of addressing deformation partitioning in materials containing multiple scales of rheologically heterogeneous elements of varying characteristic lengths provides the ability to upscale the large synthesized datasets described above to plate-scale tectonic processes and boundary conditions. By comparing modeling predictions from the recently developed

Congenital Diverticular Disease of the Entire Colon

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A. Patel

2013-01-01

Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

A novel surgical correction and innovative splint for swan neck deformity in hypermobility syndrome

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Karthik Vishwanathan

2018-01-01

Full Text Available Splinting is a great domain of occupational therapy profession. Making a splint for the patient would depend on the need or requirement of the problems and deformities. Swan neck deformity is an uncommon condition, and it can be seen in rheumatoid arthritis, cerebral palsy, and after trauma. Conservative treatment of the swan neck deformity is available by different static splints only. There are very few reports of surgical correction of swan-neck deformity in benign hypermobility syndrome. This case report describes the result of novel surgical intervention and an innovative hand splint in a 20-year-old female with a history of cardiovascular stroke with no residual neurological deficit. She presented with correctable swan neck deformity and failed to improve with static ring splints to correct the deformity. She underwent volar plate plication of the proximal interphalangeal joint of the left ring finger along with hemitenodesis of ulnar slip of flexor digitorum superficialis (FDS tendon whereby, the ulnar slip of FDS was passed through a small surgically created rent in A2 pulley and sutured back to itself. Postoperatively, the patient was referred to occupational therapy for splinting with the instruction that the splint would work sometimes for as static and some time as dynamic for positional and correction of the finger. After occupational therapy intervention and splinting, the patient had a full correction of the swan-neck deformity with near full flexion of the operated finger and can work independently.

Study of deformability in salt deposits near underground cavities

International Nuclear Information System (INIS)

Ouvry, J.F.; Massal, P.; Laviguerie, R.; Matifat, J.M.

1992-01-01

The present report relates the in-situ tests carried out in the Varangeville mine (France). This work is part of a larger research programme, on the mechanical behaviour of a salt massif, carried out by BRGM and Ecoles des Mines de Paris. The aim of the in-situ tests was to collect data for the validation of the behaviour law, based on the laboratory tests. Those tests consisted of, on the one hand the short term mechanical characteristics measurement, and on the other hand the long term creep measurement of borehole walls. The deformability tests at short term show a large dispersion of the modulus values, which range from 3000 to 6100 MPa; these are smaller than those obtained in laboratory, that range from 6200 to 7500 MPa. The second part has first required the construction of a prototype designed to measure the creep of borehole walls while applying a constant internal pressure set to a chosen value. The tests were carried out in a pilar of the mine. The first step, with an internal pressure of 2.5 MPa, shows after 300 days a borehole walls divergence ranged from 0.2 per cent in the vertical direction, up to 0.7 per cent in the horizontal direction. The second step, with a pressure of 1.2 MPa, shows a stabilization of the diametral deformation after 200 days except for the horizontal direction. 12 figs., 1 tab., 2 appendices

CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

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Chinmayee

2015-03-01

Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis

Left handedness and spine deformities in early adolescence

International Nuclear Information System (INIS)

Milenkovic, Sanja; Kocijancic, Radojka; Belojevic, Goran

2004-01-01

The aim of this study was to investigate the relation between laterality and spine deformities in early adolescence, with special reference to sex differences. Interviews, anthropometric measurements and clinical examinations of body posture were carried out on a sample of 2546 schoolchildren, aged from 11 to 14 years, in seven elementary schools in the centre of Belgrade. Possible confounding factors (age, sex, body weight and body height) were controlled for. The overall prevalence of spine deformities (scoliosis and/or thoracic hyperkyphosis) in the investigated population was 11.8%, out of which there were 7.8% adolescents with scoliosis, 4.0% with thoracic hyperkyphosis, and 0.3% with both spine deformities. The prevalence of scoliosis was 2.7 times higher in girls compared to boys (11.7% vs. 4.3%) while the prevalence of thoracic hyperkyphosis was 1,6 higher among boys (5.0% vs. 3.2%). We found 7.6% of the schoolchildren examined to be left-handed. Left handedness was significantly related to scoliosis in girls (crude OR=1.60 and 95% confidence interval=1.01-2.54). Multivariate analysis showed that significant independent factors for scoliosis were female sex (p < 0.001), age (p=0.01) and left handedness (p=0.02). We did not find any appreciable relation between left handedness and thoracic hyperkyphosis in both sexes

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

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Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

2008-01-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with ...

Ponseti treatment in the management of clubfoot deformity - a continuing role for paediatric orthopaedic services in secondary care centres.

Science.gov (United States)

Docker, Charles E J; Lewthwaite, Simon; Kiely, Nigel T

2007-07-01

The Ponseti technique is a well-proven way of managing paediatric clubfoot deformity. We describe a management set-up which spreads the care between secondary and tertiary care with no loss of quality. In our audit of the first 2 years of Ponseti casting in the treatment of idiopathic congenital talipes equinovarus (CTEV, clubfoot) deformity, we identified 77 feet having been treated in 50 patients. Forty-nine feet were treated primarily in Oswestry, a tertiary referral centre for paediatric orthopaedic conditions, and 13 feet were treated in conjunction with the physiotherapy department at one of the region's district general hospitals (Leighton Hospital, Crewe, Cheshire). Similar good results and low requirement for surgical interventions other than Achilles tenotomy, which forms part of the Ponseti regimen, were found in both cohorts. This 'hub-and-spoke' approach would appear to be efficient in terms of resource utilisation. Additional benefits for patients and their carers include ease of access to services and reduced financial and transport burdens.

Congenital bilateral neuroblastoma (stage IV-S): case report

International Nuclear Information System (INIS)

Lee, Jeong Hee; Lee, Hee Jung; Woo, Seong Ku; Lee, Sang Rak; Kim, Heung Sik

2002-01-01

Congenital neonatal neuroblastoma is not uncommon but bilateral adrenal neuroblastoma is rare, accounting for about ten percent of neuroblastomas in children. We report the US the MR findings of a stage IV-S congenital bilateral neuroblastoma occurring in a one-day-old neonate

Congenital broncho-oesophageal fistula

African Journals Online (AJOL)

1983-04-09

Apr 9, 1983 ... Rigid bronchoscopy performed under general anaesthesia .... Blackburn WR, Armour)' RA. Congenital esophago-pulmonary fistulas without esophageal atresia: an analysis of 260 fistulas in infants, children and adults.

The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

Science.gov (United States)

Simmons, M Abigail; Brueckner, Martina

2017-10-01

This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.

Assessment of fatigue crack length via plastic deformation in compact tension specimens using magnetic Barkhausen noise

International Nuclear Information System (INIS)

Reyes-Rodriguez, F. de los; Diego-Velasco, G. de; Capo-Sanchez, J.; Franco-Fidalgo, E.

2013-01-01

In this paper the influence of different parameters on crack length is determined via plastic deformation using magnetic Barkhausen noise; the compact specimens steel used in this study were 12Cr1MoV and 11Cr1Mo, which are used for steam transportation on power plants. The main objective of this paper is to determine the crack length and its incubation time using magnetic Barkhausen noise, which lets to improve the pre-cracking process prior creep crack growth rate test simulating the real conditions of high pressure and temperature of main steam lines. Results showed that mean root square and maximum pick of voltage decrease with plastic deformation for each steel analyzed in this work, on the other hand, with the increasing of plastic deformation, a logic relationship between plastic deformation and spectrum density is observed for mid frequencies values, as well as, a variation of the amplitude, width and shape of the Barkhausen signal envelope. (Author)

Solitary ulcerated congenital giant juvenile xanthogranuloma

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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.

Hypoplastic thumb type IIIB: An alternative method for surgical repair

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Salih Onur Basat

2014-08-01

Full Text Available Hypoplastic thumb is the second most common congenital deformity of the thumb. Thumb hypoplasia is characterized by diminished thumb size, metacarpal adduction, metacarpophalangeal joint instability, and thenar muscle hypoplasia. In the literature, different classification types of hypoplastic thumb have been used and different treatment methods described. In this case we presented an alternative palliative treatment method for a ten-year-old patient with modified Blauth's classification type IIIB hypoplastic thumb and one-year follow-up results. [Hand Microsurg 2014; 3(2.000: 59-61

Endoscopic release of congenital muscular torticollis with radiofrequency in teenagers.

Science.gov (United States)

Wang, Jun-Liang; Qi, Wei; Liu, Yu-Jie

2018-05-03

Congenital muscular torticollis (CMT) is due to contracture of the sternocleidomastoid muscle which may cause activity limitations of the neck, tilt of the head, craniofacial asymmetry, and deformity of the skull. The authors present their experience of arthroscopic tight fibrous band release with radiofrequency in teenagers under local anesthesia and evaluate the clinical results. A total of 69 patients who underwent arthroscopic release of CMT with radiofrequency under local anesthesia by a single surgeon could participate in this study. Before operation, surface landmarks of sternocleidomastoid muscle, bone, and neurovascular structures were marked. Local infiltrating anesthesia of the surgical region was then performed. Through a working space created by blunt dissection, the arthroscopy and radiofrequency devices were introduced. Then, the clavicular and sternal heads of the sternocleidomastoid muscle were identified and gradually transected. The patients were followed up postoperatively with Cheng's scoring system. There were 31 male patients and 38 female patients. The mean age of the patients was 16.1 years. The mean length of follow-up in this series was 36.7 months (range, 28 to 67 months). During the operation, 62 patients (89.9%) had no pain, 6 patients (8.7%) felt mild pain, and only 1 patient (1.4%) regarded the procedure as very painful. At all follow-up periods, there were no repeat arthroscopies for any of these patients. At the final follow-up, the average rotation deficit improved from 22.5° to 4.1° postoperatively, and the average lateral bending deficit improved from 14.6° to 3.3° (p radiofrequency under local anesthesia provides surgeons with an alternative to traditional open techniques for the management of congenital muscular torticollis (CMT). Our date shows that this method is minimally invasive and provides good functional recovery with a lower risk of complications.

Compliance with Adult Congenital Heart Disease Guidelines: Are We Following the Recommendations?

Science.gov (United States)

Gerardin, Jennifer F; Menk, Jeremiah S; Pyles, Lee A; Martin, Cindy M; Lohr, Jamie L

2016-05-01

As the adult congenital heart disease population increases, poor transition from pediatric to adult care can lead to suboptimal quality of care and an increase in individual and institutional costs. In 2008, the American College of Cardiology and American Heart Association updated the adult congenital heart disease practice guidelines and in 2011, the American Heart Association recommended transition guidelines to standardize and encourage appropriate timing of transition to adult cardiac services. The objective of this study was to evaluate if patient age or complexity of congenital heart disease influences pediatric cardiologists' decision to transfer care to adult providers and to evaluate the compliance of different types of cardiology providers with current adult congenital heart disease treatment guidelines. A single-center retrospective review of 991 adult congenital heart disease patients identified by ICD-9 code from 2010 to 2012. Academic and community outpatient cardiology clinics. Nine hundred ninety-one patients who are 18 years and older with congenital heart disease. None. The compliance with health maintenance and transfer of care recommendations in the outpatient setting. For patients seen by pediatric cardiologists, only 20% had transfer of care discussions documented, most often in younger simple patients. Significant differences in compliance with preventative health guidelines were found between cardiology provider types. Even though a significant number of adults with congenital heart disease are lost to appropriate follow-up in their third and fourth decades of life, pediatric cardiologists discussed transfer of care with moderate and complex congenital heart disease patients less frequently. Appropriate transfer of adults with congenital heart disease to an adult congenital cardiologist provides an opportunity to reinforce the importance of regular follow-up in adulthood and may improve outcomes as adult congenital cardiologists followed the

Changing Landscape of Congenital Heart Disease.

Science.gov (United States)

Bouma, Berto J; Mulder, Barbara J M

2017-03-17

Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

q-deformed Weinberg-Salam model and q-deformed Maxwell equations

International Nuclear Information System (INIS)

Alavi, S.A.; Sarbishaei, M.; Mokhtari, A.

2000-01-01

We study the q-deformation of the gauge part of the Weinberg-Salam model and show that the q-deformed theory involves new interactions. We then obtain q-deformed Maxwell equations from which magnetic monopoles appear naturally. (author)

Xenopus: An Emerging Model for Studying Congenital Heart Disease

Science.gov (United States)

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, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

Lutembacher's syndrome: A rare combination of congenital and ...

African Journals Online (AJOL)

Because the mitral stenosis was, in fact, rheumatic in aetiology, the syndrome was defined eventually as a combination of congenital atrial septal defect and acquired, almost always rheumatic, mitral stenosis. Keywords:Lutembacher's syndrome, congenital heart disease, valvular heart disease, atrial septal defect, mitral ...

CONCEPTS OF COLORS IN CHILDREN WITH CONGENITAL BLINDNESS

Directory of Open Access Journals (Sweden)

Daniela DIMITROVA-RADOJICHIKJ

2015-11-01

Full Text Available This descriptive qualitative interview study in¬ves¬tigates knowledge of colours in students who are congenitally blind. The purpose of this research was to explore how the lack of direct experience with colour, as a result of congenital blindness, affects judgments about semantic concepts. Qualitative methods were used to conduct interviews with 15 students. The results of the study indicate that students know the colours and have a favourite colour. The implications for practice are to pay more attention when we teach students with congenital blindness to associate colours with specific objects.

Neural correlates of olfactory processing in congenital blindness

DEFF Research Database (Denmark)

Kupers, R; Beaulieu-Lefebvre, M; Schneider, F C

2011-01-01

Adaptive neuroplastic changes have been well documented in congenitally blind individuals for the processing of tactile and auditory information. By contrast, very few studies have investigated olfactory processing in the absence of vision. There is ample evidence that the olfactory system...... magnetic resonance imaging to measure changes in the blood-oxygenation level-dependent signal in congenitally blind and blindfolded sighted control subjects during a simple odor detection task. We found several group differences in task-related activations. Compared to sighted controls, congenitally blind......, linking it also to olfactory processing in addition to tactile and auditory processing....

Rapidly involuting congenital hemangioma (RICH): a brief case report

OpenAIRE

Scalise, Robert; Bolton, Joanna; Gibbs, Neil F

2014-01-01

Congenital hemangiomas (CH) are benign vascular neoplasms that proliferate in utero and have completed development by birth. Two subtypes of CH are recognized: rapidly involuting congenital hemangiomas (RICH) and non-involuting congenital hemangiomas (NICH). Involution of the RICH subtype often begins in the first weeks of life. NICH does not involute, allowing the distinction between RICH and NICH. We report a case of an infant with RICH occurring on the scalp, examined at birth and followed...

[Congenital anomalies of cerebral artery and intracranial aneurysm].

Science.gov (United States)

Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

1976-02-01

It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

Congenital pelvic arteriovenous malformation: uncommon symptoms of lower limb venous hypertension.

Science.gov (United States)

Akimaro Kudo, F; Nishibe, T; Miyazaki, K; Flores, J; Yasuda, K

2001-12-01

Congenital pelvic arteriovenous malformations (AVMs) are rare and their clinical behavior is quite variable. A case of congenital pelvic AVM manifesting with unusual extrapelvic symptoms of ipsilateral leg pain is described. The causes of symptoms associated with congenital pelvic AVMs are discussed.

Congenital cytomegalovirus infection : disease burden and screening tools : towards newborn screening

NARCIS (Netherlands)

Vries, Jutte Jacoba Catharina de

2012-01-01

Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature

Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings

International Nuclear Information System (INIS)

Schulman, H.; Tsodikow, V.; Hertzanu, Y.; Einhorn, M.; Levy, Y.; Shorer, Z.

2001-01-01

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN). Aim: To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA. Materials and methods: In the semidesert area of the Negev, the Bedouin tribes constitute a closed society where consanguineous marriages are the custom. This has resulted in a group of 20 children being affected by this rare autosomal recessive HSAN. The skeletal surveys and CT scans of these 20 Bedouin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 years, were retrospectively analysed. Cranial CT scans were performed in ten children because of neonatal hypotonia and psychomotor retardation. The skeletal findings were classified as follows: fractures, joint deformities, joint dislocations, osteomyelitis, avascular necrosis and acro-osteolysis. Results: All 20 patients had fractures of the extremities and acro-osteolysis of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patients presented with osteomyelitis of the limbs, acetabulum and scapula. The cranial CT scans disclosed mild brain volume loss with some ventriculomegaly. Conclusions: CIPA is a severe autosomal recessive condition that leads to self-mutilation early in life and to fractures, osteomyelitis and limb amputation in older children. Mental retardation is common. Death from hyperpyrexia occurs in almost 20 % of patients in the first 3 years of life. (orig.)