Sample records for hand deformities congenital

  1. Brain Morphometry on Congenital Hand Deformities based on Teichmüller Space Theory.

    Peng, Hao; Wang, Xu; Duan, Ye; Frey, Scott H; Gu, Xianfeng


    Congenital Hand Deformities (CHD) are usually occurred between fourth and eighth week after the embryo is formed. Failure of the transformation from arm bud cells to upper limb can lead to an abnormal appearing/functioning upper extremity which is presented at birth. Some causes are linked to genetics while others are affected by the environment, and the rest have remained unknown. CHD patients develop prehension through the use of their hands, which affect the brain as time passes. In recent years, CHD have gain increasing attention and researches have been conducted on CHD, both surgically and psychologically. However, the impacts of CHD on brain structure are not well-understood so far. Here, we propose a novel approach to apply Teichmüller space theory and conformal welding method to study brain morphometry in CHD patients. Conformal welding signature reflects the geometric relations among different functional areas on the cortex surface, which is intrinsic to the Riemannian metric, invariant under conformal deformation, and encodes complete information of the functional area boundaries. The computational algorithm is based on discrete surface Ricci flow, which has theoretic guarantees for the existence and uniqueness of the solutions. In practice, discrete Ricci flow is equivalent to a convex optimization problem, therefore has high numerically stability. In this paper, we compute the signatures of contours on general 3D surfaces with surface Ricci flow method, which encodes both global and local surface contour information. Then we evaluated the signatures of pre-central and post-central gyrus on healthy control and CHD subjects for analyzing brain cortical morphometry. Preliminary experimental results from 3D MRI data of CHD/control data demonstrate the effectiveness of our method. The statistical comparison between left and right brain gives us a better understanding on brain morphometry of subjects with Congenital Hand Deformities, in particular, missing

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

    刘宏; 梅海波; 刘昆


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

  3. MR imaging in congenital lower limb deformities

    Laor, T. [Dept. of Radiology, Children`s Hospital and Harvard Medical School, Boston, MA (United States); Jaramillo, D. [Dept. of Radiology, Children`s Hospital and Harvard Medical School, Boston, MA (United States); Hoffer, F.A. [Dept. of Radiology, Children`s Hospital and Harvard Medical School, Boston, MA (United States); Kasser, J.R. [Dept. of Orthopedics, Children`s Hospital and Harvard Medical School, Boston, MA (United States)


    Treatment for children with cogenital deformities of the lower extremities may vary, depending on the state of the unossified skeletal structures and surrounding soft tissues. The purpose of our study was to demonstrate the spectrum of the osteochondral and extrasosseous abnormalities as depicted with MR imaging. We retrospectively reviewed MR examinations of 13 limbs of ten children (aged 1 month-9 years, mean 2.1 years) with longitudinal and transverse deformities of the lower extremities. The lesions imaged were fibular hemimelia (n=5), tibial hemimelia (n=5), and congenital constriction bands (n=3). Each examination was assessed for abnormalities in the osteocartilaginous and extraosseous (articular or periarticular components such as ligaments, tendons, and menisci; the muscles and the arteries) structures. Abnormalities were seen in all patients. Osteocartilaginous abnormalities in the patients with longitudinal deformities included abnormal distal femoral epiphyses, abnormal proximal tribial physes, hypertrophied and dislocated proximal fibular epiphyses, unsuspected fibular and tibial remnants, and absence or coalition of the tarsal bones. No osteocartilaginous abnormalities were seen in the patients with congential constriction bands. Articular abormalities in patients with either form of hemimelia included absent cruciate ligaments and menisci, dislocated or absent cartilaginous patellae, absent patellar tendons, and abnormal collateral ligaments. All but one limb imaged had absent or attenuated muscle groups. Of the nine MR arteriograms performed at the level of the knee, eight were abnormal. The normal popliteal trifurcation was absent or in an abnormal location. We conclude that MR imaging of children with congenital lower extremity deformities shows many osteochondral and extraosseous abnormalities that are not depicted by conventional radiogrpahy. This information can help to plan early surgical intervention and prosthetic rehabilitation. (orig.)

  4. Management of post burn hand deformities

    Sabapathy S


    Full Text Available The hand is ranked among the three most frequent sites of burns scar contracture deformity. One of the major determinants of the quality of life in burns survivors is the functionality of the hands. Burns deformities, although largely preventable, nevertheless do occur when appropriate treatment is not provided in the acute situation or when they are part of a major burns. Reconstructive procedures can greatly improve the function of the hands. Appropriate choice of procedures and timing of surgery followed by supervised physiotherapy can be a boon for a burns survivor.

  5. Campomelic dysplasia: a rare cause of congenital spinal deformity.

    Dahdaleh, Nader S; Albert, Gregory W; Hasan, David M


    Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients.

  6. The OMT Classification of Congenital Anomalies of the Hand and Upper Limb.

    Tonkin, Michael A; Oberg, Kerby C


    The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malformations, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as thumb duplication and thumb hypoplasia, are then placed within this framework. Recently the International Federation of Societies for Surgery of the Hand Scientific Committee for Congenital Conditions approved the OMT Classification as a timely and appropriate replacement of the previously accepted Swanson Classification. This review charts the development of and modifications to the OMT Classification and its current status.

  7. Vitamin A deficiency induces congenital spinal deformities in rats.

    Zheng Li

    Full Text Available Most cases of congenital spinal deformities were sporadic and without strong evidence of heritability. The etiology of congenital spinal deformities is still elusive and assumed to be multi-factorial. The current study seeks to elucidate the effect of maternal vitamin A deficiency and the production of congenital spinal deformities in the offsping. Thirty two female rats were randomized into two groups: control group, which was fed a normal diet; vitamin A deficient group, which were given vitamin A-deficient diet from at least 2 weeks before mating till delivery. Three random neonatal rats from each group were killed the next day of parturition. Female rats were fed an AIN-93G diet sufficient in vitamin A to feed the rest of neonates for two weeks until euthanasia. Serum levels of vitamin A were assessed in the adult and filial rats. Anteroposterior (AP spine radiographs were obtained at week 2 after delivery to evaluate the presence of the skeletal abnormalities especially of spinal deformities. Liver and vertebral body expression of retinaldehyde dehydrogenase (RALDHs and RARs mRNA was assessed by reverse transcription-real time PCR. VAD neonates displayed many skeletal malformations in the cervical, thoracic, the pelvic and sacral and limbs regions. The incidence of congenital scoliosis was 13.79% (8/58 in the filial rats of vitamin A deficiency group and 0% in the control group. Furthermore, vitamin A deficiency negatively regulate the liver and verterbral body mRNA levels of RALDH1, RALDH2, RALDH3, RAR-α, RAR-β and RAR-γ. Vitamin A deficiency in pregnancy may induce congenital spinal deformities in the postnatal rats. The decreases of RALDHs and RARs mRNA expression induced by vitamin A deprivation suggest that vertebral birth defects may be caused by a defect in RA signaling pathway during somitogenesis.

  8. A columellar deformity caused by a congenital schwannoma

    Mohamed El Bouihi


    Full Text Available Schwannoma is a benign neoplasm arising from Schwann cells of the peripheral nerve. It very rarely located in the nasal tip. We report two cases of congenital schwannoma of the nasal columella and discuss the surgical approach of such tumor.Case report: Case 1: An 18 year-old female was referred to us for a very slow growing tumor of the columella. The deformity had been present since the birth. The patient underwent an excision of its tumor using an open rhinoplasty approach. The histological examination revealed a schwannoma. No recurrence was found within 2 years of follow up.Case 2: A 4 month male baby presenting a congenital tumor of his columella. He underwent an excision using open rhinoplasty approach. The histological examination showed a plexiform schwannoma.Discussion: Schwannoma of the nasal tip is a benign tumor that gradually causes aesthetic and functional disorders. Congenital schwannoma of columella is an extremely rare clinical situation. Its diagnosis and treatment can pose certain challenges. The treatment is surgical excision and histological analysis of the specimen. Open rhinoplasty approach provided a good surgical exploration and a good cosmetic result on this nasal tip tumor.

  9. Washing our hands of the congenital cytomegalovirus disease epidemic

    Cannon Michael J


    Full Text Available Abstract Background Each year in the United States, an estimated 40,000 children are born with congenital cytomegalovirus (CMV infection, causing an estimated 400 deaths and leaving approximately 8000 children with permanent disabilities such as hearing or vision loss, or mental retardation. More children are affected by serious CMV-related disabilities than by several better-known childhood maladies, including Down syndrome, fetal alcohol syndrome, and spina bifida. Discussion Congenital CMV is a prime target for prevention not only because of its substantial disease burden but also because the biology and epidemiology of CMV suggest that there are ways to reduce viral transmission. Because exposure to the saliva or urine of young children is a major cause of CMV infection among pregnant women, it is likely that good personal hygiene, especially hand-washing, can reduce the risk of CMV acquisition. Experts agree that such measures are likely to be efficacious (i.e., they will work if consistently followed and the American College of Obstetricians and Gynecologists recommends that physicians counsel pregnant women about preventing CMV acquisition through careful attention to hygiene. However, because of concerns about effectiveness (i.e., Will women consistently follow hygienic practices as the result of interventions?, the medical and public health communities appear reluctant to embrace primary CMV prevention via improved hygienic practices, and educational interventions are rare. Current data on the effectiveness of such measures in preventing CMV infection are promising, but limited. There is strong evidence, however, that educational interventions can prevent other infectious diseases with similar transmission modes, suggesting that effective interventions can also be found for CMV. Until a CMV vaccine becomes available, effective educational interventions are needed to inform women about congenital CMV prevention. Summary Perhaps no single

  10. Surgical management of hand deformities in hereditary dystrophic epidermolysis bullosa

    Panajotović Ljubomir


    Full Text Available In the period 1996-2001 in the Clinic for Plastic Surgery and Burns of the Military Medical Academy, 18 patients. 12 male and 6 female, with hereditary dystrophic epidermolysis bullosa (HDEB and hand deformities were surgically treated, to achieve the complete separation of fingers, correction of the thumb adduction contracture and flexion or extension contracture of finger joints. The period of wound healing on flat surfaces after surgery, and the period between two operations was estimated. The most common deformity was the flexion contractures of metacarpophalangeal (MP joints (45% and one or both interphalangeal (IP joints (types A1, A2. In 20% of the hands MP joint was streched with the flexion contracture in distal interphalangeal (DIP or both IP joints (types B1, B2. In 35% of hands MP joint was in hyperextension with folded proximal interphalangeal (PIP or both IP joints (C1 i C2. The adduction deformity of the thumb type 1, without the possibility of abduction, was present in 15%, type 2, when the thumb was placed above the palm in 60% and type 3, when the thumb was fused in the palm in 25%. Pseudosyndactyly of the first degree (till PIP joint was found in 30% of hands, the second degree (till DIP joint in 25%, and the third degree (the whole finger length in 45% of hands. Fingers were completely separated and stretched surgically. The period of spontaneous healing was 15 days on the average. EBDC represents great medical and social problem that requires multidisciplinary approach of physicians of various specialties (surgeons, dermatologists, pediatrists, geneticists, nutritionists physiatrists, ophtalmologists, dentists, ENT, as well as specially trained persons and families. The efficient specific systemic therapy aiming to increase the skin resistence to mechanical trauma does not exist yet, and should be developed in the field of gene therapy. The surgical correction of hand deformities, acrylate glove use in the longer post


    Antony R.


    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

  12. The Effect of Intensive Bimanual Training on Coordination of the Hands in Children with Congenital Hemiplegia

    Hung, Ya-Ching; Casertano, Lorenzo; Hillman, Andrew; Gordon, Andrew M.


    Recent studies have suggested efficacy of intensive bimanual training in improving the quality and quantity of affected hand use in children with hemiplegia. However, it is not known whether such training affects the coordination of the two hands. In the present study, 20 children with congenital hemiplegia (age 4-10 years; MACS levels I-II) were…

  13. Poland综合征常见的上肢及手畸形的临床特征%Clinical features of common deformities of the upper limb and hand in Poland syndrome

    于龙彪; 田文; 张国安


    Poland syndrome ( PS ), also called pectoralis major muscle defect, brachydactyly and syndactylia syndrome, is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral upper limb and hand abnormalities in different degrees. The clinical manifestations are various, especially the upper limb and hand deformities, with great individual differences. This article reviewed the domestic and foreign literatures in recent years and summarized the various deformities of the upper limb and hand in the PS patients. ( 1 ) The PS patients with upper limb deformities may have the following symptoms, including various degrees of short or even defected upper limb, congenital radioulnar synostosis, congenital high scapula, ulnar longitudinal dysplasia, posterior dislocation of the radial head and so on. ( 2 ) The PS patients with wrist deformities may have the following symptoms, including one or more pairs of intercarpal fusion, delay of carpal ossiifcation, disharmonious ossiifcation between the carpal and tubular bone, abnormal carpal morphology, absence of carpal bones and so on. ( 3 ) The PS patients with hand deformities may have the following symptoms, including volume decrease of the ipsilateral hand such as brachydactyly, ectrodactyly, split hand and acheiria, partially or completely soft tissue syndactyly, dysplasia or absence of the middle phalanx, contracture of the metacarpophalangeal joint and the interphalangeal joint, finger lateral deformity, congenital constriction band deformity and so on.

  14. Fusionless instrumentation systems for congenital scoliosis: expandable spinal rods and vertical expandable prosthetic titanium rib in the management of congenital spine deformities in the growing child.

    Yazici, Muharrem; Emans, John


    Review of relevant literature including personal opinions. To review the current researches investigating the efficacy of growing rod and thoracic expansion techniques in the treatment of congenital spine deformity of young children, and to highlight the contrasting advantages and limitations in the fusionless treatment of progressive congenital scoliosis. Congenital scoliosis has the potential for severe spinal deformity and thoracic insufficiency syndrome (TIS). Conventional fusion treatments in children tend to shorten the spine further exacerbating trunk shortening and TIS. In the surgical treatment of congenital spinal deformities in young children, while reconstructing the spinal deformity, one should simultaneously pursue preserving the growth potential of the vertebrae, improving the volume, symmetry, and functions of the thorax, and protecting this improvement during the growth. Today, employed in the treatment of spinal deformities of young children, there are 2 deformity reconstruction methods serving these targets: Growing rod technique and vertical expandable prosthetic titanium rib (VEPTR) with or without expansion thoracostomy. Peer-reviewed research articles and major international meeting presentations were reviewed. Methods were compared in terms of advantages and limitations. The growing rod technique is a safe and reliable method in the treatment of congenital spine deformity of young children who present some flexibility in the anomalous segment, or when the congenital anomaly involves a vertebral segment too long for resection, or with compensating curve with structural pattern concomitant to the congenital deformity. Expansion thoracostomy and VEPTR are the appropriate choice for severe congenital spine deformity when a large amount of growth remains. Although ventilator dependence is significantly decreasing, thoracic volume and space available for the lung are increased after expansion thoracostomy and VEPTR. Growing rod technique should be

  15. The latest treatment strategy for the rheumatoid hand deformity.

    Ishikawa, Hajime


    With a remarkable improvement in the pharmacotherapy of rheumatoid arthritis (RA), severely handicapped patients are very rare to see. Healing, repair and drug-free, and toward radical cure are coming to be possible. In the clinical practice, more than 50% of the patients are in remission. However, some patients are still difficult to reach remission due to comorbidities and economic burden. In the patient with clinical remission, smoldering synovitis so called "silent destructor" is often detected by ultrasonograpy or by synovial histology in the small joints of the hand. In recent years, over use with "no pain" increases the risk of deformity, osteoarthrosis, tendon rupture and entrapment neuropathy. Highly motivated patients, who concern about the appearance of the hand, hope to get a higher level of activities of daily living and quality of life (QOL). A prospective cohort study was performed for the purpose of knowing whether rheumatoid hand surgery affects the patient's QOL and mental health as well as upper extremity function. A primary hand surgery was scheduled in 119 patients with RA. Synovectomy and Darrach procedure, radiolunate arthrodesis, reconstruction of the extensor tendons, arthroplasty at the metacarpophalangeal (MP) using Swanson implant, fusion at the proximal interphalangeal (PIP) joint, suspensionplasty at the carpometacarpal (CM) joint of the thumb (Thompson method) et al. were performed. As a result, Japanese version of the Stanford Health Assessment Questionnaire (J-HAQ:physical function,QOL), EuroQOL-5 dimension (EQ-5D:QOL), Beck Depression Inventory-II (BDI-II:depression, mentality) at 6 months and at 12 months after surgery improved significantly compared to those just before surgery (p < 0.01). Disease activity score 28- C reactive protein 4 (DAS28-CRP (4)) decreased significantly (p < 0.01). Latest hand surgery with tight medical control is possible to raise QOL and to provide mental wellness for the patient with RA. Copyright

  16. [The natural history of congenital defects and deformities of the spine (I)].

    Liljenqvist, U


    The functional assessment of individuals with congenital defects of the spine requires a differentiated judgement. A lumbalisation or sacralisation of the lumbosacral junction does not seem to be associated with increased lower back pain. However, it remains unclear whether this is the case in individuals with a spina bifida occulta. Defects of segmentation or formation alter the biomechanical loading of the spine, especially in cases of a secondary spinal deformity the functional status can be substantially impaired. Spinal deformities include idiopathic scoliosis, Scheuermanns kyphosis and spondylolisthesis. Depending on the severity of the deformity, they can affect the functional status and may be associated with increased lower back pain.

  17. Deformation of Congenital Bicuspid Aortic Valves in Systole

    Szeto, Kai; Pastuszko, Peter; Nigam, Vishal; Lasheras, Juan


    Clinical studies have shown that patients with congenital bicuspid aortic valves (CBAVs) develop degenerative calcification of the leaflets at young ages compared to normal tricuspid aortic valves (TAVs). It has been hypothesized that the asymmetrical geometry of the leaflets in CBAVs and the associate changes in flow shear stresses and excessive strain rate levels are possible causes for the early calcification. Central to the validation of this hypothesis is the need to quantify the differences in strain rate levels between the BAVs and TAVs. We simulate the CBAVs by surgically stitching two of the leaflets of a porcine aortic valve together. To quantify strain differences, we performed in-vitro experiments in both BAVs and TAVs by tracking the 3-D motion of small dots marked on each leaflet surface. We then used phase-locked stereo photogrammetry to measure the strain rates in both radial and circumferential directions during the whole cardiac cycle. In the BAVs' case, the fused leaflet experiences an almost 30% increase in the radial stretching when fully open. RNA profiling of human aortic valve interstitial cells exposed to cyclic stretch shows that the increased stretch experienced by the BAVs results in increased levels of INTERLEUKINS (ILs) and other known inflammatory markers associated with aortic valve calcification. Together, these observations suggest that the abnormal stretch experienced by BAVs activates inflammation gene expression.

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

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


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

  19. THA following deformities due to congenital dislocation of the hip joint.

    Macheras, George A; Koutsostathis, Stefanos D; Lepetsos, Panagiotis; Anastasopoulos, Panagiotis P; Galanakos, Spyridon; Papadakis, Stamatios A


    Total hip replacement is the treatment of choice for the patient suffering from end-stage hip osteoarthritis. Excellent long-term results have been published. In the presence of deformities due to congenital hip dislocation, total hip replacement is, in most of the cases, a difficult task, since the technique of performing such an operation is demanding and the results could vary. This paper presents our experience and preferred strategies focusing on challenges and surgical techniques associated with reconstructing the dysplastic hip.

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

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


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

  1. Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease

    SHEN Lei; LI Xiao-feng; SHEN A-dong; WANG Qiang; LIU Cai-xia; GUO Ya-jie; SONG Zhen-jiang; LI Zhong-zhi


    Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis.However, the prevalence of HAND2 mutations in congenial heart disease (CHD) and the correlation between the HAND2 genotype and CHD phenotype have not been studied extensively. Methods We amplified the exons and the flanking intron sequences of the HAND2 gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic artery or cardiac cushion and confirmed the mutations by sequencing.Results Seven mutations including three missense mutations (P11R, S36N and V83L), one isonymous mutation (H14H)and three mutations in untranslated region (241 A>G, 604C>T and 3237T>A) were identified in 12 out of the 131 patients.Both nonisonymous mutations are located in the transcriptional activation domain on the N-terminus. Only one mutation (S36N) was identified in 250 normal healthy controls. The distribution of 3637T>A is the unique one which was differentbetween the 2 groups.Conclusions HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract. Further study of those with a family history of HAND2 mutations will help convincingly relate their genotype to the pathogenesis of CHD.

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

    Christ, F.


    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.

  3. Active range of motion outcomes after reconstruction of burned wrist and hand deformities.

    Afifi, Ahmed M; Mahboub, Tarek A; Ibrahim Fouad, Amr; Azari, Kodi; Khalil, Haitham H; McCarthy, James E


    This works aim is to evaluate the efficacy of skin grafts and flaps in reconstruction of post-burn hand and wrist deformities. A prospective study of 57 burn contractures of the wrist and dorsum of the hand was performed. Flaps were used only if there was a non-vascularized structure after contracture release, otherwise a skin graft was used. Active range of motion (ROM) was used to assess hand function. The extension deformity cohort uniformly underwent skin graft following contracture release with a mean improvement of 71 degrees (p6 months. Early release of burn contracture is advisable to avoid deep structure contracture.

  4. Diversity of congenital cardiac defects and skeletal deformities associated with the Holt–Oram syndrome

    Chryssostomidis, Gregory; Kanakis, Meletios; Fotiadou, Vassiliki; Laskari, Cleo; Kousi, Theofili; Apostolidis, Christos; Azariadis, Prodromos; Chatzis, Andrew


    INTRODUCTION The Holt–Oram syndrome is a rare congenital disorder involving the skeletal and cardiovascular systems. It is characterized by upper limb deformities and cardiac malformations, atrial septal defects in particular. PRESENTATION OF CASE Four consecutive patients 1–15 years old with the Holt–Oram syndrome presented over a 10 year span for surgical treatment of their cardiac maladies. The spectrum of the heart defects and skeletal deformities encountered in these patients are described and discussed. DISCUSSION The Holt–Oram syndrome is an autosomal dominant condition; however absence of the morphological features of the trait in close family members is not rare. Although patients are known to predominately present with atrial septal defects, other cardiovascular anomalies, including rhythm abnormalities, are not uncommon. Skeletal disorders vary as well. CONCLUSION Cardiovascular disorders, skeletal malformations and familial expression of the Holt–Oram syndrome, vary widely. PMID:24879328

  5. Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome.

    Chryssostomidis, Gregory; Kanakis, Meletios; Fotiadou, Vassiliki; Laskari, Cleo; Kousi, Theofili; Apostolidis, Christos; Azariadis, Prodromos; Chatzis, Andrew


    The Holt-Oram syndrome is a rare congenital disorder involving the skeletal and cardiovascular systems. It is characterized by upper limb deformities and cardiac malformations, atrial septal defects in particular. Four consecutive patients 1-15 years old with the Holt-Oram syndrome presented over a 10 year span for surgical treatment of their cardiac maladies. The spectrum of the heart defects and skeletal deformities encountered in these patients are described and discussed. The Holt-Oram syndrome is an autosomal dominant condition; however absence of the morphological features of the trait in close family members is not rare. Although patients are known to predominately present with atrial septal defects, other cardiovascular anomalies, including rhythm abnormalities, are not uncommon. Skeletal disorders vary as well. Cardiovascular disorders, skeletal malformations and familial expression of the Holt-Oram syndrome, vary widely. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  6. The Effect of Concomitant Rib Deformity in Congenital Scoliosis on Spinal Curve Correction After Segmental Pedicle Screw Instrumentation.

    Ameri, Ebrahim; Fouladi, Daniel F; Safari, Mir Bahram; Tari, Hossein Vahid; Ghandhari, Hassan


    A single-center, prospective study. To investigate the effect of rib anomaly on surgical curve correction outcome in congenital scoliosis. The presence of rib anomalies may complicate surgical correction of congenital scoliosis. The outcome of surgical correction, however, has not been documented in scoliotic patients with and without rib deformity. Percent Cobb angle decrease (CAD) after operation was calculated in 94 patients with congenital scoliosis. Posterior segmental pedicle screw instrumentation (posterior approach) with or without previous anterior spinal release and fusion (anterior approach) was the method of correction. The impact of vertebral anomaly and rib deformity on CAD was examined. Although the type of vertebral anomaly had no significant effect on the mean CAD, it was significantly lower in 56 patients with rib deformity compared with that in the remaining patients without rib deformity (35.14%±15.83% vs. 51.54%±17.82%, Prib abnormalities, and in those with same-level vertebral and rib deformities. Patients' sex and age at the time of operation, rib number abnormality, and the type of operation (ie, posterior-only approach vs. anterior and posterior approach) did not contribute significantly to Cobb angle change after operation. Concomitant rib deformities, particularly of complex and unilateral types, significantly compromise operative curve correction outcome in congenital scoliosis.

  7. Cervical Spine Deformity in Long-Standing, Untreated Congenital Muscular Torticollis.

    Hussein, Mohammed Ahmed; Yun, In Sik; Park, Hanna; Kim, Yong Oock


    Congenital muscular torticollis (CMT) is a benign condition. With early diagnosis and appropriate management, it can be cured completely, leaving no residual deformity. However, long-standing, untreated CMT can lead to permanent craniofacial deformities and asymmetry. Four adult patients presented to the author with long-standing, untreated CMT. Initial clinical assessment demonstrated tightness of the sternocleidomastoid muscle on the affected side. Investigation of cervical spine using 3-dimensional computed tomography scans with cervical segmentation allowed a 3-dimensional module to be separately created for each vertebra to detect any anatomical changes. A change in the axis of the vertebral column was noted when compared to that of the skull. Also, there were apparent anatomical changes affecting the vertebrae, which were most noticeable at the level of the atlas and axis vertebrae. These changes decreased gradually till reaching the seventh cervical vertebra, which appeared to be normal in all patients. The changes in the atlas vertebra were mostly due to its intimate relation with the skull base. The changes of the axis were the most significant, affecting mainly the superior articular facet, the lamina, and the body. There were seemingly permanent changes along the cervical spine region in the adult patients with long-standing, untreated CMT in the form of bending and rotation deformities that might result in residual torticollis postoperatively.

  8. [Surgical treatment of hand deformities in multiple enchondromatosis: a case report].

    Erol, Bülent; Tetik, Cihangir; Sirin, Evrim; Kocaoğlu, Bariş; Bezer, Murat


    Multiple enchondromatosis (Ollier's disease) is a rare disease characterized by widespread enchondromas. In general, the short tubular bones of the hand are involved, with progressive lesions resulting in cosmetic problems and functional deformities. Diaphysectomy and reconstruction with structural autografts or allografts are usually recommended in the treatment of extensive enchondromas involving the fingers. Curettage and grafting and ray amputation are other surgical procedures that can be applied depending on the severity of involvement. A 25-year-old woman with enchondromatosis presented with severe swelling and deformities on her fingers in both hands. The majority of the lesions were managed by diaphysectomy and reconstruction with structural grafts; ray amputation, curettage and grafting were performed for more severe lesions. During a long-term follow-up (left hand 6 years, right hand 5.5 years) cosmetic and functional results were acceptable.

  9. Single time angular deformity correction and treatment of knee instability in congenital fibular hemimelia. A case report.

    Figueroa, David; Calvo, Rafael; Villalón, Ignacio E; Schmidt-Hebbel, Andrés; Figueroa, Francisco; Baar, Alejandro


    Fibular hemimelia is the most frequently occurring congenital anomaly of long bones. These patients, among other deficiencies, have a poor development of the anterior cruciate ligament (ACL). Unless it causes clinically assessed instability of the knee, nonsurgical treatment is given. When surgical treatment is required, correction of angular limb deformity must be realized prior to ACL reconstruction. We present the case of a 16-year old patient with congenital fibular hemimelia. Physical examination showed genu valgum, anteromedial rotatory instability and recurvatum of the right knee. We decided to perform surgical correction of the angular deformities and ACL reconstruction in the same surgical time. Twelve months after surgery, the patient had no evidence of clinical instability, with a range of motion from -5°-110° of the right knee. No claudication or gait instability was found. The KT-1000 arthrometer showed a difference of 2mm between both knees. The ACL reconstruction and corrective osteotomies of angular deformities performed in a single surgical procedure had a good clinical result in a 12 month follow up-period, restoring stability of the knee and allowing a normal gait cycle. Copyright © 2011 Elsevier B.V. All rights reserved.

  10. 'Epidemic' of hand deformities in the French Renaissance paintings of Jean and François Clouet.

    Weisz, G M; Albury, W R; Matucci-Cerinic, M; Lazzeri, D


    This article analyses the nature of the multiple finger anomalies found in portraits by the French Renaissance artistic dynasty, the Clouets. The multiplicity of finger anomalies could be either innocent congenital variants, or pathological and traumatic deformities. In view of the presence of such `beautifying variations' in the works of other Renaissance artists, the authors decided that these features were not the result of an epidemic of deformities, but instead represented a stylistic approach in paintings of this period at the French Court. © The Author 2016. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email:

  11. Pointing with the Left and Right Hands in Congenitally Blind Children

    Ittyerah, Miriam; Gaunet, Florence; Rossetti, Yves


    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…

  12. Congenital malformations of the flipper in three West Indian manatees, Trichechus manatus, and a proposed mechanism for development of ectrodactyly and cleft hand in mammals.

    Watson, A G; Bonde, R K


    Three cases of congenital ectrodactyly of the flipper in the manatee are described, including one case of bilaterally-symmetrical cleft hand. A hypothesis assumes that a defect in the apical ectodermal ridge (AER) in the developing hand plate of the early embryo is the initiating factor in the development of ectrodactylous and cleft hand malformations in man and other mammals. Variations in the site, extent, and time of the AER defect will account for many of the morphologic variations observed in these congenital malformations.

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

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


    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.

  14. Complications of mandibular distraction osteogenesis for congenital deformities: a systematic review of the literature and proposal of a new classification for complications

    Verlinden, C.R.A.; van de Vijfeijken, S.E.C.M.; Jansma, E.P.; Becking, A.G.; Swennen, G.R.J.


    A systematic review of English and non-English language articles on the complications of mandibular distraction osteogenesis (MDO) for patients with congenital deformities was performed, in accordance with the PRISMA statement. Search terms expressing distraction osteogenesis were used in ‘AND’ comb

  15. Multiple, life-compatible, congenital physical deformities in association with splenic lymphangiomatosis in Zoogoneticus tequila (Webb & Miller, 1998

    Mariarita Romanucci


    Full Text Available The present case describes an adult female Zoogoneticus tequila showing a congenital, marked shortening with left deviation of the upper and lower jaws, in association with microphthalmia of the left eye. The fish was normally fed and had a normal reproductive behaviour. After spontaneous death occurred at an advanced age, the fish was submitted for necropsy examination, which revealed the presence of an oval, 1 cm × 0.5 cm × 0.5 cm in size, cystic structure containing clear amber fluid, located in the coelomic cavity, in place of the spleen. Histopathological examination revealed multiple cystic spaces empty or filled with a slightly eosinophilic, homogenous, proteinaceous material, and lined by flattened, vimentin-positive endothelial-like cells. Residual parts of splenic tissue were also admixed with cystic spaces, suggesting a final diagnosis of cystic lymphangiomatosis of the spleen, which has not been previously described in fish. This is the first report of multiple, life-compatible, congenital physical deformities in association with splenic lymphangiomatosis in Zoogoneticus tequila.

  16. Congenital spine deformities: a new screening indication for blunt cerebrovascular injuries after cervical trauma?

    Capone, Christine; Burjonrappa, Sathyaprasad


    Blunt cerebrovascular injuries (BCVI) carry significant morbidity if not diagnosed and treated early. A high index of clinical suspicion is needed to recognize the injury patterns associated with this condition and to order the requisite imaging studies needed to diagnose it accurately. We report of BCVI associated with a congenital cervical spine malformation after blunt trauma. We recommend inclusion of cervical spine malformations to the current Eastern Association for the Surgery of Trauma screening criteria for BCVI and explain our rationale for the same.

  17. Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy

    Lidang Jensen, M; Rix, M; Schrøder, Henrik Daa


    Two premature siblings described herein had clinical features comparable to the fetal akinesia-hypokinesia deformation sequence (Pena-Shokeir syndrome) with polyhydramnios, intrauterine growth retardation, pulmonary hypoplasia, short umbilical cord and lethality. Autopsy revealed no thoracal...... or abdominal viscera anomalies and examination of the brain, spinal cord and peripheral nerves did not disclose any pathological changes. Light microscopy, immunohistochemistry and electron microscopy of skeletal muscles demonstrated immature muscles with some fibril disorganisation and abnormal...

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

    Rahal Sheila C


    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.

  19. 3D Visual Data-Driven Spatiotemporal Deformations for Non-Rigid Object Grasping Using Robot Hands.

    Mateo, Carlos M; Gil, Pablo; Torres, Fernando


    Sensing techniques are important for solving problems of uncertainty inherent to intelligent grasping tasks. The main goal here is to present a visual sensing system based on range imaging technology for robot manipulation of non-rigid objects. Our proposal provides a suitable visual perception system of complex grasping tasks to support a robot controller when other sensor systems, such as tactile and force, are not able to obtain useful data relevant to the grasping manipulation task. In particular, a new visual approach based on RGBD data was implemented to help a robot controller carry out intelligent manipulation tasks with flexible objects. The proposed method supervises the interaction between the grasped object and the robot hand in order to avoid poor contact between the fingertips and an object when there is neither force nor pressure data. This new approach is also used to measure changes to the shape of an object's surfaces and so allows us to find deformations caused by inappropriate pressure being applied by the hand's fingers. Test was carried out for grasping tasks involving several flexible household objects with a multi-fingered robot hand working in real time. Our approach generates pulses from the deformation detection method and sends an event message to the robot controller when surface deformation is detected. In comparison with other methods, the obtained results reveal that our visual pipeline does not use deformations models of objects and materials, as well as the approach works well both planar and 3D household objects in real time. In addition, our method does not depend on the pose of the robot hand because the location of the reference system is computed from a recognition process of a pattern located place at the robot forearm. The presented experiments demonstrate that the proposed method accomplishes a good monitoring of grasping task with several objects and different grasping configurations in indoor environments.

  20. 3D Visual Data-Driven Spatiotemporal Deformations for Non-Rigid Object Grasping Using Robot Hands

    Mateo, Carlos M.; Gil, Pablo; Torres, Fernando


    Sensing techniques are important for solving problems of uncertainty inherent to intelligent grasping tasks. The main goal here is to present a visual sensing system based on range imaging technology for robot manipulation of non-rigid objects. Our proposal provides a suitable visual perception system of complex grasping tasks to support a robot controller when other sensor systems, such as tactile and force, are not able to obtain useful data relevant to the grasping manipulation task. In particular, a new visual approach based on RGBD data was implemented to help a robot controller carry out intelligent manipulation tasks with flexible objects. The proposed method supervises the interaction between the grasped object and the robot hand in order to avoid poor contact between the fingertips and an object when there is neither force nor pressure data. This new approach is also used to measure changes to the shape of an object’s surfaces and so allows us to find deformations caused by inappropriate pressure being applied by the hand’s fingers. Test was carried out for grasping tasks involving several flexible household objects with a multi-fingered robot hand working in real time. Our approach generates pulses from the deformation detection method and sends an event message to the robot controller when surface deformation is detected. In comparison with other methods, the obtained results reveal that our visual pipeline does not use deformations models of objects and materials, as well as the approach works well both planar and 3D household objects in real time. In addition, our method does not depend on the pose of the robot hand because the location of the reference system is computed from a recognition process of a pattern located place at the robot forearm. The presented experiments demonstrate that the proposed method accomplishes a good monitoring of grasping task with several objects and different grasping configurations in indoor environments. PMID

  1. 3D Visual Data-Driven Spatiotemporal Deformations for Non-Rigid Object Grasping Using Robot Hands

    Carlos M. Mateo


    Full Text Available Sensing techniques are important for solving problems of uncertainty inherent to intelligent grasping tasks. The main goal here is to present a visual sensing system based on range imaging technology for robot manipulation of non-rigid objects. Our proposal provides a suitable visual perception system of complex grasping tasks to support a robot controller when other sensor systems, such as tactile and force, are not able to obtain useful data relevant to the grasping manipulation task. In particular, a new visual approach based on RGBD data was implemented to help a robot controller carry out intelligent manipulation tasks with flexible objects. The proposed method supervises the interaction between the grasped object and the robot hand in order to avoid poor contact between the fingertips and an object when there is neither force nor pressure data. This new approach is also used to measure changes to the shape of an object’s surfaces and so allows us to find deformations caused by inappropriate pressure being applied by the hand’s fingers. Test was carried out for grasping tasks involving several flexible household objects with a multi-fingered robot hand working in real time. Our approach generates pulses from the deformation detection method and sends an event message to the robot controller when surface deformation is detected. In comparison with other methods, the obtained results reveal that our visual pipeline does not use deformations models of objects and materials, as well as the approach works well both planar and 3D household objects in real time. In addition, our method does not depend on the pose of the robot hand because the location of the reference system is computed from a recognition process of a pattern located place at the robot forearm. The presented experiments demonstrate that the proposed method accomplishes a good monitoring of grasping task with several objects and different grasping configurations in indoor

  2. Bilateral Rib-Based Distraction to the Pelvis for the Management of Congenital Gibbus Deformity in the Growing Child With Myelodysplasia.

    Smith, John T


    Congenital gibbus deformity of the spine associated with myelodysplasia is a challenging problem in the growing child and is commonly associated with skin breakdown and chronic infection. Surgical solutions including kyphectomy, flap closure of the skin, and early spinal fusion are associated with a high rate of complications and, ultimately, a short trunk due to stoppage of spinal growth. The purpose of this article is to describe our early results in using a rib-based distraction to the pelvis without vertebral resection and fusion to manage this deformity. This is an IRB-approved retrospective study of a consecutive single-surgeon series of using the rib-to-pelvis distraction technique in congenital gibbus deformity. There were four patients (two males, two females) with an average age of 20 months (16-25 months). The diagnosis was myelomeningocele (n = 2), congenital kyphosis (n = 1), and congenital kyphoscoliosis (n = 1). All patients were managed with bilateral rib-to-pelvis distraction using the Vertical Expandable Prosthetic Titanium Rib (VEPTR) device. The average preoperative gibbus deformity measured 114 degrees (range = 108-154). The average postoperative gibbus measured 52 degrees (range = 36-80). The average length of postoperative follow-up is 66 months (range = 48-84 months). There were 10 complications; a dural leak during device expansion, rib hook migrations and postoperative infections after initial implant that resolved with irrigation, debridement, and intravenous antibiotics. One patient had skin expanders placed preoperatively to facilitate skin coverage. No patient has required vertebral resection to achieve correction of the deformity. No patient has had subsequent skin breakdown over the residual gibbus. This minimally invasive technique effectively corrects gibbus deformity in the growing child without early vertebral column resection and fusion. Our practice is to intervene early while the gibbus is flexible and prior to skin breakdown

  3. 先天性脊柱畸形和椎管内异常%Intraspinal Anomalies and Congenital Deformities of the Spine

    王尚昆; 崔宽龙; 刘振堂


    Of 210 patients with congenital deformities of the spine, 21 (10%) were with congenital intraspinal anomalies, 15 of them with disste-matomyelia, 4 dermoid cyst, I neurenteric cyst and 1 arachnoid cyst. In most cases there were nervous functional disturbances. Therefore, a routine myelography, accurate diagnosis of in-traspiaal anomalies should be made before any correction of congenital spinal deformities. As for intraspinal anomalies.they treated before the correction.%在210例先天性脊柱畸形中,有21例发现有椎管内异常.在这些异常中,以脊髓纵裂多见(15例),其他较少见的异常单独存在或与脊髓纵裂伴发,计有皮样囊肿4例(其中1例与脊髓纵裂并存),肠原性囊肿1例,蛛网膜囊肿1例,均经手术及病理证实.本文详细描述了椎管内异常的临床表现、X线检查、诊断、鉴别要点及治疗原则.

  4. The clinical assessment and surgical treatment of congenital scoliosis combined with the Sprengel's deformity%先天性脊柱侧凸伴高肩胛症的临床评估与手术

    汪飞; 钱邦平; 邱勇


    @@ 前言 先天性脊柱侧凸(congenital scoliosis,CS)伴高肩胛症(Congenital elelvation of the scapula,Sprengel'sdeformity)是一种少见而复杂的先天性发育畸形.Tsirikos等[1]分析了537例先天性脊柱畸形患者的肋骨、胸廓及肩胛畸形,在497例CS患者中43例(8.6%)合并高肩胛畸形.Cavendish等[2]报道的100例先天性高肩胛症患者中,有39例(39%)伴CS;与单纯的先天性高肩胛症或CS相比,CS伴高肩胛症的临床评估及手术策略更加复杂,现对这种复杂畸形的临床评估与手术策略作一综述.%Congenital scoliosis (CS) combined with the Sprengel's deformity was a rare and complicated congenital deformity. Although the pathogenesis of this complicated deformity was still unclear, some existing studies revealed that Sprengel's deformity occurred most frequently in congenital scoliosis with unilateral failure of vertebral segmentation in cervicothoracic or thoracic segments. According to the relationship between the congenital scoliosis and the Sprengel's deformity, the complicated congenital deformity could be divided into 3 types: the elevated shoulder occurred on the convex side of the scoliosis, on the concave side of the scoliosis and CS combined with bilateral Sprengel's deformity. A thorough physical examination and comprehensive using of three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) were very important for the assessment of this complicated deformity. The Sprengel's deformity occurred on the convex side of upper thoracic congenital scoliosis usually required one-stage surgery to elevate scapula and correct the spinal deformity. The one-stage reduction of the elevated scapula was not necessarily needed when the Sprengel's deformity occurred on the concave side of the scoliosis, because the elevated scapula could partially compensate the cosmetic deformity and minimize shoulder asymmetry.

  5. 先天性脊柱侧凸合并高肩胛症的手术治疗%Surgical treatment of congenital scoliosis with Sprengel's deformity

    孙保胜; 孙琳; 祁新禹; 于凤章; 张学军; 潘少川


    Objective To discuss the surgical treatment of congenital scoliosis with Sprengel's deformity in children.Methods Nine children of congenital scoliosis with Sprengel' s deformity were treated in our hospital. Scoliosis patients who had Sprengel's deformity in convex side were underwent spinal and scapular surgery ( modified Woodward), patients in concave side were underwent scapular surgery (modified Woodward). All patients were assessed clinically and radiographically pre- and post-operation. Result Follow-up examination showed the scoliosis progress controled, high scapula no relapse of postoperative patients, no neurological deficits caused by correction of scapula and correction of scoliosis.Conclusions Congenital scoliosis can combine with Sprengel's deformity. Patients with Sprengel's deformity in spinal convex side need both spinal and scapular surgery, patients with Sprengel' s deformity in concave side may just need scapular surgery. They both have achieved effective treatment.%目的 探讨儿童先天性脊柱侧凸合并高肩胛症的手术治疗方法.方法 在我院住院手术治疗的先天性脊柱侧凸合并高肩胛症患者9例,术前行脊柱正侧位片及脊柱螺旋CT检查.位于脊柱凸侧的高肩胛症一期行肩胛下移及脊柱侧凸矫形手术,位于脊柱凹侧的高肩胛症由于脊柱上胸段侧凸不著而暂未行脊柱矫形手术,仅行肩胛下移术.术后间隔3个月到半年复查.结果 随访检查显示脊柱侧凸进展得以控制,高肩胛症无复发,患者术后无因下移肩胛骨及矫正脊柱侧凸引起的神经症状.结论 先天性脊柱侧凸可合并高肩胛症,对于脊柱凸侧合并高肩胛症行脊柱侧凸矫正手术同时行肩胛下移手术,对于脊柱凹侧合并高肩胛症行肩胛下移术,取得了很好的治疗效果.

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

    Davoodabadi A


    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.

  7. Surgical treatment results of hand deformities in patients with Apert syndrome

    Ufuk Nalbantoglu


    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

  8. Complications of mandibular distraction osteogenesis for congenital deformities: a systematic review of the literature and proposal of a new classification for complications.

    Verlinden, C R A; van de Vijfeijken, S E C M; Jansma, E P; Becking, A G; Swennen, G R J


    A systematic review of English and non-English language articles on the complications of mandibular distraction osteogenesis (MDO) for patients with congenital deformities was performed, in accordance with the PRISMA statement. Search terms expressing distraction osteogenesis were used in 'AND' combination with search terms comprising 'mandible' and terms for complication, failure, and morbidity. A search using PubMed (National Library of Medicine, NCBI), EMBASE, and the Cochrane Central Register of Controlled Trials yielded 644 articles published between 1966 and mid October 2013. Clinical articles that reported complications related to MDO were included. Finally 81 articles on MDO in congenital deformities were eligible and were screened in detail. Complications including minor infection (6.0%), device-related problems (7.3%), skeletal open bite (2.4%), hypertrophic scar formation (2.1%), facial nerve palsy (1.8%), neurosensory disturbances of the inferior alveolar nerve (1.9%), and (fibrous) non-union (0.7%) were seen. A new index for more detailed classification of complications in MDO is proposed based on six categories that indicate the impact of the complication and its further treatment or final results. The proposed complication index may be a useful tool to classify complications related to MDO.

  9. 小儿手烧伤瘢痕畸形的整形外科治疗%Plastic surgery treatment on cicatricial deformation in child burn of hand

    葛乃航; 朱云


    Background: Cicatricial deformation in child burn of hand often leads to severe squaelae. According to different causes of disease , different plastic surgery were adopted .The key of operation lies in skin repairing , articulation dealing, and thumb correcting, which aim is to resume normal longitudinal and transverse arcs ,holding and clenching ability.

  10. Multifocal Congenital Hemangiopericytoma.

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


    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.

  11. Segmental anhidrosis with hyporeflexia associated with congenital spinal deformity: A Ross's syndrome variant or inverse Horner's syndrome?

    Sawhney M


    Full Text Available A 39-year-old soldier presented with anhidrosis affecting both upper extremities below the shoulders, the right side of the trunk below the third rib in front and the third vertebra on the back, and the left lower extremity below the inguinal ligament since 1992. Ten years later in 2002, he was also found to have bilateral absence of Achilles reflex and decreased right knee jerk. In addition, the patient was found to have congenital spinal abnormalities in the form of block of vertebrae C3-C4; decreased disc space C4-C5; and break in pars interarticularis L5-S1 with decreased disc space. A total of seven cases of Ross syndrome, Holmes-Adie syndrome (tonic pupil with lost tendon jerks with segmental anhidrosis, have been described in the literature. Our case, however, did not have any pupillary abnormality. A case of progressive isolated segmental anhidrosis has also been described. The association of congenital spinal abnormality, which may be pathognomonic in the causation of this progressive sudomotor degeneration, is quite interesting in our case. The distribution of anhidrosis on the right side is just below the level of sweating loss sometimes described in lesions of superior sympathetic cervical ganglion in Horner's syndrome.

  12. Hand kinematics: Application in clinical practice

    Santosh Rath


    Full Text Available Pathological conditions of the hand consequent to injuries, paralysis, disease, arthritis and congenital difference results in loss or limitation of function, deformities, stiffness, inadequate power and poor position for pinch. The pathogenesis of deformities is influenced by bio-mechanical principles of joints and muscle function. The crippling impact of secondary changes due to edema, soft tissue contractures, muscle shortening and functional adaptations also have a mechanical basis. For clinicians and hand therapists, it is necessary to understand these fundamental principles of biomechanics to plan treatment modalities. Interpretation of mechanics of hand deformities in rheumatoid arthritis and paralysis will enable the treating team to identify the appropriate interventions of splinting, therapy and surgical procedures. Basic knowledge of the principles of hand clinical bio-mechanics will help the beginner to sail through the multitude of tendon transfers described in the text books of hand surgery and find the best solution for a particular clinical presentation. Similarly, knowledge of bio-mechanics will provide solutions to an experienced surgeon to plan treatment protocols for complex situations. The article presents a concise summary of the basic principles of hand bio-mechanics for common hand conditions seen in clinical practice. Understanding and applying these principles will help clinicians in planning and devising treatment options for common and complex hand conditions.


    Venkata Chalam


    Full Text Available A 5 year old girl having hereditary sensory neuropathy, type II manifesting as congenital absence of pain sensation and trophic changes in the skin is reported. This child presented with presented with multiple ulcers over hands and feet since 2 years of age. The ulcers were non - healing type with serosanguineous discharge. There is abnormal gait and weakness in upper and lower limbs. On examination there are deep ulcers measuring 5x7x2cms over left feet. Fingers of both hands and feet were mutilated with loss of phalanges, sensations to fine touch, pain and temperature are decreased bilaterally below the mid arm and feet, vibration sensations were normal, proprioception could not be tested due to deformities. Sensory and motor nerve conduction studies showed evidence of sensorimotor axonal neuropathy.

  14. Treatment of the congenital radial club hand%先天性桡骨发育不良的初步治疗体会

    李玉婵; 陈博昌


    目的 介绍治疗先天性桡骨发育不良的初步体会.方法 2006年7月至2008年12月我院收治先天性桡骨发育不良的患儿7例,共8侧(其中一例为双侧累及).男6例,女1例,年龄最小5个月,最大5.5岁,平均2.5岁.除2例为Ⅲ型,其余均为Ⅳ型.此外1例伴发颈椎畸形,1例伴有马蹄足畸形,1例伴有髋关节发育不良.首先采用手法牵拉减缓软组织的挛缩,到1岁时进行手术,手术方法主要是采用尺骨腕关节中置术,即暴露腕关节,于近侧腕骨中心切一小槽,修剪尺骨远端,然后将其插入腕骨小槽中并用克氏针固定,同时对尺侧松弛的组织进行紧缩.在进行该项手术前先要对患儿前臂桡侧挛缩程度进行评估,若桡侧挛缩程度严重,则用ILIZAROV支架牵拉软组织后再行手术.手术后石膏同定4周,术后8周取出克氏针,术后需佩戴矫形支具.随访时间3~30个月,平均12个月.结果 所有患儿在手术后畸形立即得到明显纠正,外观得到明显改善,手术后患肢功能较前也有增进,肘关节活动增多.结论 尺骨腕关节中置术结合桡侧软组织牵拉,术后再辅以矫形支具的佩戴能达到比较满意的治疗效果.%Objective To review our initial experience in treating the congenital club hand.Methods Between July 2006 and December 2008,7 patients with 8 congenital radial club hands were treated in our hospital.The mean follow-up duration was 12 months(3 to 30months).The mean age of the patients was 30 months(5 to 66 months).Except for 2 Bayne type Ⅲ radial club hands,the remaining patients were of type Ⅳ.According to the age and the contracture of the soft tissue,a staged protocol consisting of passive stretch of the soft tissue or gradual distraction with Ilizarov external fixator followed by centralization of the ulna were carried out.Results The appearance and the function of the hands improved after the operations.The elbows also had a wider range of movement than

  15. Congenital scoliosis - Quo vadis?

    Debnath Ujjwal


    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient′s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the

  16. Congenital Hypothyroidism

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


    A. Shahla


    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  18. CT Analysis of Congenital Ankylotia with Other Deformity of Children%儿童先天性外耳道闭锁合并其他畸形的CT分析

    赵建设; 郭磊; 崔若棣; 易明岗; 张庆太; 宋丹


    Objective To explore the diagnostic value of multiplanar reformation of nigh-resolution computed tomography(HRCT) for congenital ankylotia with other deformity, and improve the recognition of composite otology deformity. Methods The whole clinical, surgical identified data of 82 patieots(106 ears) with congenital ankylotia is retrospectively reviewed. 61 cases are mate and 21 cases are female.The average age is 2.4 years ( range from 2 months to 14 years). 24 cases are bilateral ankylotia, 39 cases are only right ankylotia and 19 cases are only left ankylotia. Most of them are conductive deafness, such as perceptive deafness accompanies inner ear deformity. Results Ankylotia is usually companied complex middle ear deformity, accounting for 72% (76/106), and a low incidence in inner ear deformity is 8% (9/106). Among them, the osseous ankylotia(77 ears) is usually companied the complex middle ear deformity, accounting for 92% (71/77), and inner ear deformity is rare, about 10% (8/77). The incidences of middle ear and the inner ear deformity with membranous atresia(29 ears) are scarce, total accounting for 20% (6/29). Conclusion HRCT multiplanar reformation could be used to observe the anatomical structure of auricle, external auditory canal, middle ear and inner ear in the whole course, has important value in the diagnosis of congenital ankylotia with other deformity.%目的 探讨高分辨率螺旋CT(HRCT)多平面重组对外耳道闭锁合并其他畸形的诊断价值,提高对复合耳科畸形的认识.方法 回顾性分析经临床、手术证实的资料完整的先天性外耳道闭锁患者82例,共106耳,男61例,女21例,年龄2个月~14岁,平均2.4岁.其中,24例为双侧外耳道闭锁,39例为右侧外耳道闭锁,19例为左侧外耳道闭锁.多为传导性耳聋,如伴有内耳畸形则为感音性耳聋.结果 外耳道闭锁多合并复杂的中耳畸形,发生率约72%( 76/106),内耳畸形发生率约8%( 9/106).

  19. 先天性髋脱位治疗后股骨头缺血性坏死的后遗畸形%Residual Deformities of Avascular Necrosis of Femoral Head following Treatment of Congenital Dislocation of Hip

    吉士俊; 周永德; 刘卫东; 纪树荣


    238 Cases of congenital dislocation of the hip were treated in the past 20 years.40 cases(52 hips)complicated with avascular necrosis of the femoral head were followed up for more than 3 years,(average 6.2 years)This paper gives an analysis of the residual deformities of the avascular necrosis of the femoral head,which can be divided into 3 types:(1)deformities of the femoral head including enlargement flattening, deformation and disappearance(28 hips 53.7%);(2)shortening and widening of the femoral neck in 34 hips(65.4%),coxa valga(8 hips,15.4%)and coxa vara(15 hips,28.8%)and relative high position of the greater trochanter(28 hips,53.8%);(3)degenerative arthritis(19 hips,36.5%).Also discussed is the difference between residual deformities of the femoral head necrosis and Legg-Perthes disease, as well as their mechanism,pathological development after avascular necrosis,and the characters of the residual deformities in the 4 types of avascular necrosis of the femoral head.Several surgical procedures to improve the residual deformities are also described.%@@ 近年来随着治疗先天性髋脱位的日益增加,股骨头缺血性坏死(以下简称头坏死)的并发症也不断增多,确认和处理其后遗畸形已成为临床研究的重要课题.




    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  1. [Congenital galactosaemia: an unusual presentation].

    Marcoux, M O; Laporte-Turpin, E; Alberge, C; Fournie-Gardini, E; Castex, M P; Rolland, M; Brivet, M; Broue, P


    Congenital galactosaemia reveals usually in the second and third weeks of life with a severe liver dysfunction. We report on a case of congenital galactosaemia with, on the one hand, an early onset liver failure, without any free interval, and on the other hand, an hemophagocytic syndrome as a severe secondary outbreak with pulmonary haemorrhage. Appropriate diet led to normalisation of liver function. Hemophagocytosis, probably linked to an associated Klebsiella Pneumoniae sepsis, had a favourable outcome after antibiotic and corticosteroid therapy.

  2. An Outbreak of Late-Term Abortions, Premature Births, and Congenital Deformities Associated with a Bovine Viral Diarrhea Virus 1 Subtype b that Induces Thrombocytopenia

    Bovine viral diarrhea virus (BVDV) genotype 1 subtype b caused an outbreak of premature births, late term abortions, brachygnathism, growth retardation, brain deformities and rare other skeletal deformities in Holstein calves born to first calf heifers on one dairy. Experimental challenge of three,...

  3. Congenital Hypothyroidism

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

  4. The Relationship Between the Severity of Deformities and Lung Function in Congenital Pectus Excavatum%先天性漏斗胸患者胸廓畸形程度与肺功能变化的研究

    张雯; 李传伟; 褚志刚; 高红玲; 李为民


    目的 探讨先天性漏斗胸患者肺功能变化与胸廓畸形程度的关系.方法纳入四川大学华西医院2008年1月至2010年7月期间65例患者胸部CT及肺功能检查资料,进行回顾性分析.结果先天性漏斗胸患者的肺功能各指标除PEF、FEF50、FEF75、BR轻度下降,RV、RV/TLC、Raw增高外,其余指标均在正常范围内.比较不同畸形程度的患者发现FEF75随胸廓畸形程度越重降低越多且超出正常范围,虽然FEV1、FEF25-75、VC也会因胸廓畸形程度越重降低越多,但仍在正常范围内.结论先天性漏斗胸轻、中度患者肺功能检测多为正常,重度患者有轻度下降.%Objective To investigate the relationship between the severity of deformities and lung function in patients with congenital pectus excavatum. Methods Hie spiral CT and respiratory function data of 65 surgically corrected pectus excavatum patients during January 2008 and July 2010 were collected and retrospectively reviewed. Results Peak expiratory flow ( PEF) , forced expiratory flow at 50% ( FEF^ ) , FEF73 ,and breathing reserve ratio ( BR) were decreased while residual volume ( RV) , residual volume to total lung capacity ratio (RV/TLC ) ,and airway resistance ( Raw) were increased. The FEF7S increased with the severity of deformities. Forced expiratory volume in 1 second (FEV,) .forced expiratory flow at 25% to 75% of forced vital capacity (FEF^s) ,and vital capacity (VC) increased with the severity of deformities too,but still in the normal range. Conclusion The lung function is relatively normal in the patients with mild to moderate congenital pectus excavatum, and only decreased mildly in severe cases.

  5. 选择性腕掌部肌力平衡术治疗脑瘫手部畸形%Muscle balance operation for the treatment of spastic cerebral palsy of hand deformity

    孙立泉; 于嘉智; 刘涛


      目的:探讨痉挛性脑瘫手部畸形的手术改进方法,最大限度改善患儿手部的正常功能。方法:采取患儿手部本身原有软组织的肌腱滑行延长和肌内延长方法,达到伸屈腕肌力的平衡恢复手的基本功能位。结果:2006~2011年收治24例手畸形患儿,术后随访1~4年,效果良好,无复发,家长满意。结论:肌力平衡术治疗痉挛性脑瘫手部畸形适合4岁以上并且能主动配合功能锻炼的4岁以上患儿,手足徐动型不排除在指征之外。%Objective: To study the effect of Improved surgery methods of spastic cerebral palsy in children with hand deformity , which may improve hand function maximatily. Methods:24 infants with hand deformity, who attended our hospital from 2006 to 2011, were treated by surgical methods of autologous tendon gliding extended and intramuscular lengthening,with a purpose of muscle strength balance of wrist and hand basic function recovery. Results:All of the infants had good effect after treatment, and none of the babies had recurrence, which were followed up for 1-4 years. Conclusion:Muscle balance operation for the treatment of spastic cerebral palsy of hand deformity were suitable for patients who were more than 4years old and could take the initiative to cooperate with functional exercise. Athetosis was not excluded from the indications.

  6. Congenital hemifacial hyperplasia

    S A Deshingkar


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

  7. Proposal of new category for congenital unilateral upper limb muscular hypertrophy.

    Takka, Semih; Doi, Kazuteru; Hattori, Yasunori; Kitajima, Izuru; Sano, Kazufumi


    According to congenital anomalies of the hand and forearm classifications, the common characteristic of overgrowth problems is the skeletal overgrowth of part or all of the hand. Congenital unilateral muscular hypertrophy of the upper extremity has been classified under the overgrowth (gigantism) problems as whole-limb hemihypertrophy. The common characteristic of overgrowth problems is the skeletal overgrowth of part or all of the hand, which is not prominent in these patients. Only 15 cases with this anomaly have been reported since 1962. These patients have abnormal muscles with hypertrophic appearance and changed tendon to muscle length ratio. This type of muscular hypertrophy shows an increase in the number of fibers in transverse section, as also seen in multiply innervated muscles like the sartorius and gracilis in humans. Although this phenomenon has a mosaic type distribution, there is no progression of the muscular hypertrophy during growth period. Hand deformities are not due to a part of progression of the disease but result of imbalance of the extrinsic and intrinsic muscles. The evolutionary changes of skeletal muscles should be investigated to explain this congenital phenomenon and might be classified in a different entity from the present categories.

  8. 帕金森病手足纹状体畸形的研究进展%Advances in the Study of Striatal Deformities of the Hand and Foot in Parkinson Disease



    帕金森病可出现手足畸形,称之为"纹状体手、足",一般多出现于病程晚期,但部分患者在病程初期也可以出现.由于此种畸形的表现较复杂,易误诊为其他疾病,如类风湿性关节炎、骨关节病、运动神经元病等,应引起临床医师的重视.现就帕金森病纹状体手足的临床表现、可能的发病机制、流行病学及治疗等方面的研究进展进行综述.%Deformities of the hand and foot are abnormal postures commonly seen in patients with advanced Parkinson disease,which can also present in the early stages in some patients,called " striatal hand" and " striatal foot". Because of their complicated clinical presentation, the deformities are often misdiagnosed as other diseases such as rheumatoid arthritis,orthopaedic problems,and upper-motorneuron syndromes. Here is to make a review on the clinical features of these deformities,possible pathogenesis, epidemiology, and the treatment.

  9. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

    Borochowitz, Z; Langer, L O; Gruber, H E; Lachman, R; Katznelson, M B; Rimoin, D L


    We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

  10. Microtia Combined With Split Sole of Feet, Deformed Middle Fingers and Café -au-lait Spots on the Trunk: A New Association.

    Yu, Yan; Hu, Jintian; Liu, Tun; Cao, Yilin; Zhang, Qingguo


    Microtia is a spectrum of congenital deformities. Approximately, half of the patients are associated with hemifacial microtia. The birth rate of microtia ranges from 2 per 10,000 to 17.4 per 10,000. Microtia and limb deformities sometimes occurred simultaneously as described in the literature. In this report, the patient was found to be with unilateral microtia combined with bilateral split sole of feet, deformed middle fingers on both hands, and café-au-lait spots on the trunk. Despite a thorough literature search, the authors could not achieve a satisfactory diagnosis for the current case with respect to the type of anomalies seen in the case.

  11. [Congenital thrombophilia].

    Kojima, Tetsuhito


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

  12. Congenital Myopathy

    ... evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline ...

  13. Congenital syphilis

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

  14. Application of Vibrant Soundbridge (VSB)in patients with congenital deformation of middle and outer ears%振动声桥在先天性中外耳畸形患者的应用

    邹艺辉; 李佳楠; 陈爱婷; 戴朴; 韩东一; 刘会占; 杨仕明


    Objective To report application of the Vibrant Soundbridge (VSB) in patients with congenital deformation of the middle and outer ears and investigate its indications for this patient population. Method Four patients with congenital deformation of middle and outer ears underwent VSB implantation. All were male (aged 3-18 years, average 13.5 years) and operated on the left side., Malformation was bilateral in 3 patients and unilateral in 1 patient. Surgical techniques were modified to accommodate each patient' s unique conditions. The middle ear space was approached via the facial recess in 3 patients and through a post-facial nerve route in 1 patient. The VSB implant was connected to either the stapes (2 cases) or the round window (2 cases). Pure tone and speech audiometry results and daily communication before and after VSB activation were compared. Results The operations were successful in all patients, with no complications. The patient communication level improved significantly after VSB activation. Average air conduction pure tone threshold or conditioned reflex audiometry improved by 35dB in the 0.25-4 kHz range from 69 dB HL before VSB activation to 34 dB HL after. In quiet, the sentence recognition rate at 65 dB SPL went up to 86% from 0% without VSB for patients with bilateral deformation and remained at 100% for the patient with unilateral deformity. However, for the latter patient, the rate improved to 20% from 0% without VSB in noise (-8 dB SNR). Conclusion VSB is a good solution for improving hearing in patients with congenital deformation of middle and outer ears. Operation can be completed and good results can be achieved even in patients with unique conditions.%目的 报道振动声桥在先天性中外耳畸形患者(尤其有特殊情况者)的应用,探索其在该类患者的适应症.方法 对4例先天性中外耳畸形患者行振动声桥植入术,均为男性,年龄3-18岁(平均13.5岁),3例双耳畸形,1例单耳畸形,均为左侧植

  15. Hand to hand.

    Bedell, Susanna E; Graboys, Thomas B


    Examination of the hands has the potential to transform the encounter between physician and patient. Taking the hands conveys a sense of warmth and connectedness and is a means to communicate the physician's mindfulness. The hands can focus the examination on the individual patient as a complete human being, and not merely a disease or a collection of symptoms. The hands provide readily accessible information that may not be available through other evaluations, and they offer clues to a patient's physical and mental health. Commonplace observations, such as those revealed in the hands, can unravel medical mysteries and provide profound clinical insights.


    D. Tave


    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.

  17. Evaluation on the virtual CT endotoscope for the diagnosis of ossicular chain lesions accompanied with congenital aural deformity%虚拟CT耳镜对先天性耳畸形听骨链病变的诊断价值

    蒋立新; 涂博; 罗冬


    目的 通过虚拟CT耳镜观察,探讨其对先天性耳畸形听骨链病变的诊断价值.方法 对30例(43耳)先天性耳畸形患者,高分辨率CT扫描获取病变部位的原始图像数据,经三维重建后,以虚拟CT耳镜方式观察听骨链病变情况,然后与手术探查结果对比分析.结果 虚拟CT耳镜清楚显示发育不全的听小骨及畸形听骨链状态,其中外耳道闭锁21例(30耳),包括锤骨发育不全18耳,砧骨发育不全13耳,锤砧骨缺如3耳,镫骨畸形13耳,镫骨缺如4耳,锤砧关节畸形融合20耳,砧镫关节畸形融合7耳,砧镫关节软组织连接2耳;9例(13耳)单纯性中耳畸形,其中锤骨头与砧骨体包埋在上鼓室内上壁2耳,锤骨头与上鼓室壁骨性连接3耳,锤骨柄远端与鼓环骨性连接1耳,砧骨长脚发育不全4耳,镫骨异位1耳,镫上结构缺如3耳,其中前庭窗闭锁1耳,镫上结构畸形2耳.31耳行手术治疗,术前虚拟CT耳镜观察与术中探查听骨链异常基本符合.结论 虚拟CT耳镜清楚显示先天性耳畸形听骨链异常结构,为术前明确诊断和确立手术方式提供可靠的影像学依据.%Objective To investigate the value of virtual CT endotoscope for the diagnosis of ossicular chain lesions accompanied with congenital aural deformity. Methods Thirty cases (43 ears) with congenital aural deformity were undergone high resolution CT scanning to collect the original image data from the focus in middle ear, followed by 3-dimensional reconstruction to process these images for evaluating the possibly presented lesions with the ossicular chain. Then, a comparative analysis was made on the virtual CT endotoscopic findings in a correlative consideration with that actually found during the operation on the ossicular chain lesions. Results 30 ears were aural atresia which contained malleus hypoplasia in 18 ears, incus hypoplasia in 13 ears, malleus and incus absence in 3 ears, stapes abnormity in 13 ears, stapes absence in

  18. Congenital intestinal lymphangiectasia

    Popović Dušan Đ.


    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.

  19. "X"成形术及术后手部近侧指间关节屈曲挛缩畸形的康复治疗%" X" plastic operation and postoperative rehabilitative treatment of hand proximal interphalangeal joint flexion contraction deformity

    杨国华; 安宇; 马勇胜; 贾断峰; 邹中芳


    Background:The contraction deformity of hand proximal interphalangeal joint flexion often occurs after different injury of palmar digital skin,which has effections on hand functions in different extent(varying degrees) and brings many difficults to patients in their life and work.And marked effect are achieved when " X" plastic operation and postoperative recovery therapy are put into use.

  20. Nuevo enfoque en el tratamiento quirúrgico de las fisuras labiales congénitas New approchment to the surgical treatment of congenital cleft lip deformities

    P. Rossell-Perry


    Full Text Available Las fisuras labiales son variadas en su forma de presentación y su tratamiento requiere de una descripción detallada de su morfología y de una cirugía individualizada. La mayoría de centros en el mundo utilizan una sola técnica o modificaciones de ésta para tratar las diferentes formas de fisura labial. Durante nuestros primeros años de experiencia tratamos las diferentes formas de fisura labial con una sola técnica quirúrgica (Millard para la unilateral y Mulliken para la bilateral con buenos y malos resultados. Este panorama nos llevó a clasificar las fisuras labiales y a plantear una nueva estrategia para su tratamiento quirúrgico, de manera más individualizada. El propósito del presente estudio es comparar los resultados quirúrgicos obtenidos en el tratamiento de las fisuras labiales con 2 protocolos diferentes. Realizamos un estudio analítico comparativo de un protocolo A, utilizando una sola técnica para tratar las diferentes formas de fisura labial, y de un protocolo B, utilizando diferentes técnicas de acuerdo a la clasificación propuesta, en base al número de malos resultados obtenidos con cada uno de ellos. Para establecer el tipo de resultado obtenido se realizaron medidas antropométricas en ambos lados del labio operado antes de la cirugía palatina que se lleva a cabo bajo anestesia general. Observamos diferencias significativas en el número de malos resultados entre ambos protocolos, a favor del protocolo B (p: 0.0001 y p: 0.002. Concluimos que fue posible observar un menor número de malos resultados con la aplicación del protocolo B (protocolo individualizado para el tratamiento de la fisura labial uni y bilateral, mostrando la eficacia de la clasificación propuesta y de las técnicas empleadas. Estas conclusiones avalan los aportes propuestos en este artículo con la nueva clasificación y técnicas descritas.The cleft lip deformities present in a wide spectrum of variation and their treatment requires a

  1. Hands-on Virtual Clay

    Pihuit, Adeline; Kry, Paul; Cani, Marie-Paule


    poster; International audience; This paper presents a new interaction system designed for hands-on 3D shape modeling and deformation through natural hand gestures. Our system is made of a Phantom haptic device coupled with a deformable foam ball that supports pressure sensors. These sensors detect forces exerted by the user's fingertips, and are used to control the configuration of a compliant virtual hand that is modeling soft virtual clay. During interaction, the user is provided both passi...

  2. [Congenital epulis].

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


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

  3. Congenital amusias.

    Tillmann, B; Albouy, P; Caclin, A


    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."

  4. Congenital and perinatal cytomegalovirus infection

    Chun Soo Kim


    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.

  5. Congenital Scoliosis (Mini-review).

    Weiss, Hans-Rudolf; Moramarco, Marc


    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  6. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    ... from Nemours: Your Nails MalaCards: nail disorder nonsyndromic congenital 10 Merck Manual Consumer Version: Deformities, Dystrophies, and Discoloration of the Nails Orphanet: Autosomal recessive nail dysplasia Patient Support and Advocacy Resources (1 link) British ...

  7. Physiotherapy management of an infant with Bilateral Congenital ...

    Physiotherapy management of an infant with Bilateral Congenital Talipes Equino varus. ... deformity Conclusion: There is need for more enlightenment on the importance of early referral of CTEV cases for Physiotherapy care. ... Article Metrics.

  8. [Congenital hydrocephalus].

    Malagón-Valdez, J


    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  9. Isolated congenital palatal fistula without submucous cleft palate.

    Karacan, Mehmet; Olgun, Haşim; Tan, Onder; Caner, Ibrahim


    Congenital fistula of the palate is a rare deformity. It has been generally associated with cleft palate. Treatment of cleft palate is surgical intervention. We present a child with congenital fistula of palate that was not associated with submucous cleft and closed spontaneously at 18 months.

  10. [Congenital aniridia].

    Chiruţa, Daria; Stan, Cristina


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

  11. Congenital Hydrocephalus.

    Estey, Chelsie M


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

  12. Congenital Thrombocytopenia



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

  13. Congenital diplopodia

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


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

  14. [Congenital ranula].

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


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

  15. Poland综合征手部畸形的临床分型及治疗策略%Clinical classification and treatment strategy of the hand deformity in Poland syndrome

    田文; 薛云皓; 刘春玲; 赵俊会; 田光磊; 李淳; 侯春梅; 杨勇; 刘波; 朱瑾; 王凌宇


    目的 总结和探讨Poland综合征手部畸形的临床形态学特征及治疗策略.方法 回顾总结2000年2月至2011年8月由我科诊治的Poland综合征患者63例,系统归纳其手部畸形的形态学特点,依据畸形手形态受影响的程度进行分型,分为典型型和其他型两大类,典型型分为Ⅰ、Ⅱ、Ⅲ、Ⅳ、Ⅴ型,其他型分为Ⅰ、Ⅱ、Ⅲ型.并总结不同类型Poland综合征畸形手的生长发育、手指并连、X线片表现、合并畸形及功能损害等特点.根据上述分型,对其中56例进行外科治疗,并对各个类型的畸形手的治疗策略进行总结和归纳.结果 术后对所有手术治疗患者进行随访,时间为6~18个月,平均10.5个月.分指成功率达100%,手术后主要残留指蹼粘连和瘢痕挛缩等问题.除并指外的其他畸形,如短指、缺指、肢体短小、乳房发育不良等,目前仍无法有效治疗手段.结论 Poland综合征畸形手形态学改变复杂、多样化,本研究对Poland综合征手畸形的分型,基本反映了Poland综合征手部畸形的形态学改变特点,依据此分型对畸形手进行手术治疗,获得一定的临床效果,伴发畸形仍需进一步治疗.%Objective To review and analyze the clinical morphologic characteristics of the hand deformity in Poland syndrome,and establish a new classification system and treatment strategy. Methods Sixty-three cases with Poland syndrome treated by the authors between February 2000 and August 2011 were evaluated retrospectively.The clinical morphologic characteristics of the hand deformity were systemically analyzed.Based on the severity degree of morphologic deformity,the Poland hand was classified into typical type and atypical type.Typical type was sub-classified into type Ⅰ,type Ⅱ,type Ⅲ,type Ⅳ and type Ⅴ,and atypical type was sub-classified into type Ⅰ,type Ⅱ and type Ⅲ.The deformed hands in each type were also summarized with respect to growth and

  16. Intraobserver and Interobserver Reliability of the Oberg-Manske-Tonkin (OMT) Classification: Establishing a Registry on Congenital Upper Limb Differences.

    Bae, Donald S; Canizares, Maria F; Miller, Patricia E; Roberts, Summer; Vuillermin, Carley; Wall, Lindley B; Waters, Peter M; Goldfarb, Charles A


    The purpose of this investigation was to determine the reliability of the Oberg-Manske-Tonkin (OMT) classification system applied to patients enrolled in a prospective, multicenter cohort study of congenital upper limb differences. Our hypothesis was that the OMT classification would exhibit high intraobserver and interobserver reliability and thus would be an appropriate tool for the new Congenital Upper Limb Differences registry. Four pediatric hand surgeons independently reviewed the medical records, clinical photographs, and radiographs of 60 randomly selected patients previously enrolled in the Congenital Upper Limb Differences registry. Patient's information was summarized and shared electronically (PowerPoint). Each rater classified each congenital anomaly according to the OMT classification system. Responses were recorded using a web-based data capture tool (REDCap). Three weeks later, the surgeons repeated the process. Intraobserver reliability for each rater was assessed using Fleiss' κ. Interobserver reliability was assessed using percent exact agreement (when all 4 raters were in agreement) as well as Fleiss' κ. Using the OMT classification, intraobserver reliability for the 4 pediatric hand surgeons showed almost perfect agreement, with κ values in the range of 0.89 to 0.93. Interobserver reliability demonstrated substantial agreement, with κ value of 0.79 (95% confidence interval, 0.77-0.82) in the first reading and 0.80 (95% confidence interval, 0.77-0.83) in the second reading. The highest possible agreement (κ=1) was seen for the following diagnoses: congenital dislocation of radial head (OMT I.A.2.v), Madelung deformity (I.A.2.vii), radial polydactyly (I.B.2.iii), triphalangeal thumb (I.B.2.iv), Kirner deformity (, and osteochondromatosis (3.B.4.i). The OMT classification of congenital upper limb differences exhibits substantial to almost perfect intraobserver and interobserver reliability among pediatric hand surgeons at different

  17. Congenital symbrachydactyly: outcomes of surgical treatment in 120 webs

    LI Wen-jun; ZHAO Jun-hui; TIAN Wen; TIAN Guang-lei


    Background Symbrachydactyly is defined as a combination of short fingers with syndactyly.There are few published reports estimating the incidence of symbrachydactyly.The aim of this study was to investigate the clinical features and the outcome of surgical treatment for congenital symbrachydactyly.Methods One hundred and twenty webs of thirty-four patients of symbrachydactyly were involved in the study.The sex ratio was 21 males/13 females.The age ranged from 1 year to 8 years,average 2.6 years.Four cases had both hands involved and 30 patients had one hand involvement.Release of the syndactylous digits webs were completed by one surgical procedure in 14 cases and more than one surgical procedure in 20 cases; 3 to 6 months between the procedures.In the meantime,some of the associated hand deformities were treated.Results Postoperative follow-up time was 10 to 18 months,average 12 months.All the fingers involved in this study were separated successfully.However,6 fingers had scar tissue contracture and 8 had web scar adhesion.All complications needed further surgical treatment.Parents of 94.1% of the patients were satisfied with the overall function of the hand,and 76.5% were satisfied with the cosmetic appearance of hand.Conclusions The combination of syndactyly and brachydactyly is the main clinical feature in symbrachydactyly.Separation of the digital webs can greatly improve the function of the hand.However,more work needs to be done to improve the cosmetic appearance of the hand.

  18. Experience of combined therapy on treating cicatrical deformity caused by pediatric hand bums%小儿手烧伤后瘢痕畸形的综合治疗经验

    桂国庆; 姚玉婷; 付建华; 文辉才


    Objective To summarize the experience of combined therapy of surgery and recovery on treating 56 cases of cicatrical deformity caused by pediatric hand burns in early time. Methods From August 2006 to December 2010,56 cases (67 hands) caused by pediatric hand burns after 2 ~6 months were entered the trial.AII of the patients were performed under the general anesthesia with tracheal intubation. Using scar release or removal and skin graft; using Z-plasty or V-Y flap transfer or advance and flap transfer.AII the patients were conducting rehabilitation training to resist scar contracture after operation. Results The all of grafting skin had survival in 38 cases: there was little excoriation on the grafting skin in 10 casessThe edge of grafting skin had craking and part of grafting skin were necrosis in 6 cases. After the medicine treatment.the wound was healed. A majority of the grafting skin was infection and necrosis,which was needed planting again in 2 cases. By rehabilitation training after 6 months of operation.the function of hands was superior in 18cases (20 hands),we!l in 25cases (30 hands),better in 7cases (9 hands) and bad in 6 cases (8 hands). Conclusion When treating pediatric hand bums,treatment time,intraoperative details and early rehabilitation exercise have great effect on postoperation effects.%目的:总结56例小儿手烧伤后及早进行瘢痕畸形修复的综合治疗经验.方法:2006年8月~ 2010年12月对56例(67只手)烧伤后2~6个月手畸形患儿,在气管插管全身麻醉下手术,采用瘢痕松解或切除植皮、局部“Z”成形或“V-Y”皮瓣转移推进、皮瓣修复.术后即进行抗瘢痕挛缩的康复训练.结果:38例患儿移植皮片全部存活;10例患儿移植皮片表皮有少许脱落;6例患儿移植皮片切口边缘有开裂、部分皮片坏死,经换药后愈合;2例患儿移植皮片大部分感染坏死,需再次行植皮手术.术后经过6个月康复锻炼后,手部功能优18例(20


    Venkatram Reddy


    Full Text Available Congenital radial dysplasia, also referred to as radial club hand , means deficiency along the preaxial or radial side of the extremity. It ranges from hypoplasia of the thumb to variou s degrees of radial hypoplasia. We present one such rare case of type 4 congenital unilateral isolated radial dysplasia with carpel anomaly , reported to our department in SVS medical C ollege, Mahabubanagar, Telangana state

  20. Congenital syphilis

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


    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%)

  1. Congenital hypoaldosteronism.

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


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

  2. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    LI Yang; XIONG Wan-lin; SHI Bing


    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  3. Bilateral congenital choanal atresia and osteoma of ethmoid sinus with supernumerary nostril: a case report and review of the literature

    Li Xue-zhong


    Full Text Available Abstract Introduction Congenital choanal atresia is a relatively rare deformity, especially bilateral congenital choanal atresia. We report a case of bilateral congenital choanal atresia in a 22-year-old Chinese man, who was also diagnosed with congenital right accessory nasal deformity, osteoma of his left ethmoid sinus and congenital keratoleukoma of his right eye. Case presentation A 22-year-old Chinese man presented with mouth breathing, sleep snoring and difficult feeding after birth, with no olfactory sensation. Three-dimensional computed tomography revealed bilateral choanal atresia and a high density bony shadow in his left ethmoid sinus that extended to his left frontal sinus. Conclusions Choanal atresia is often accompanied by other congenital abnormalities. To the best of our knowledge, this is the first report of choanal atresia accompanied by congenital accessory nasal deformity and congenital keratoleukoma.

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

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


    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

  5. Hand Anatomy

    ... Z Videos Infographics Symptom Picker Anatomy Bones Joints Muscles Nerves Vessels Tendons About Hand Surgery What is a Hand Surgeon? What is a Hand Therapist? Media Find a Hand Surgeon Home Anatomy Bones Joints Muscles Nerves Vessels Tendons Anatomy The upper extremity is ...

  6. Android Hands

    Vlachos, Evgenios; Schärfe, Henrik


    . On such occasions, android and humanoid hand models should have similar structure, functions, and performance as the human hand. In this paper we present the anatomy, and the key functionalities of the human hand followed by a literature review on android/humanoid hands for grasping and manipulating objects...

  7. Epidemiology of Congenital Upper Limb Anomalies in a Midwest United States Population: An Assessment Using the OMT Classification

    Goldfarb, Charles A.; Wall, Lindley B.; Bohn, Deborah C.; Moen, Patrick; Van Heest, Ann E.


    Purpose To examine the relative presentation frequency of children with upper limb congenital anomalies at 3 Midwestern referral centers using the Oberg, Manske, and Tonkin (OMT) classification and to assess the utility of this new classification system. Methods 641 individuals with 653 congenital upper extremity anomalies were identified at 3 hospitals in 2 large metropolitan areas during a 1-year interval. Patients were identified prospectively and the specific upper extremity anomaly and any associated syndromes were confirmed using medical records and radiographs. We applied the OMT classification that categorizes anomalies using a dysmorphology outline as malformations, dysplasias, deformations, and syndromes, and assessed its utility and ease of use. Results There were 480 extremities (74%) with a limb malformation including 184 involving the entire limb. Arthrogryposis was the most common of these (53 extremities). Anomalies affecting only the hand plate accounted for 62% (296) of the malformations. Of these, radial polydactyly (15%) was the most common specific anomaly, followed by symbrachydactyly (13%) and cleft hand (11%). Dysplasias were noted in 86 extremities; 55 of these were multiple hereditary exostoses. There were 87 extremities with deformations and 58 of these were trigger digits. A total of 98 children had a syndrome or association. Constriction ring sequence was most common. The OMT was straightforward to use and most anomalies could be easily assigned. There were a few conditions, such as Madelung deformity and symbrachydactyly, that would benefit from clarification on how to best classify them. Conclusions Malformations were the most common congenital anomalies in the 653 upper extremities evaluated over a 1-year period at 3 institutions. We were able to classify all individuals using the OMT classification system. PMID:25534840

  8. Space Deformations, Surface Deformations and the Opportunities In-Between

    Daniel Cohen-Or


    In recent years we have witnessed a large interest in surface deformation techniques. This has been a reaction that can be attributed to the ability to develop techniques which are detail-preserving. Space deformation techniques, on the other hand, received less attention, but nevertheless they have many advantages over surface-based techniques. This paper explores the potential of these two approaches to deformation and discusses the opportunities that the fusion of the two may lead to.

  9. 胎儿肢体及手足畸形产前超声诊断及图像分析%The ultrasonographic diagnosis and imaging analysis of fetal deformities in limbs hands and feet

    李国政; 庄松岩; 李智瑶; 刘增强; 韩立波


    筛查方法,采用连续顺序追踪超声法辅以三维超声系统扫查,可减少胎儿肢体畸形的漏诊。%Objective To summarize the sonographic features of fetal limb deformity. Methods Systematic continuous sequence approach (SCSA) was performed with two-dimensional and three-dimensional ultrasonography(USG) in 28 383 fetuses to observe the fetal limb development, posture abnormality and other accompanied malformations. Compared with the pathological and radiological findings, the characteristics of fetal limb deformity on USG were summarized. Results Among 28 383 fetuses prenatal ultrasound detected 207 cases of fetal malformations (0.7%, 207/28 383) including 29 cases of limb deformities (14%, 29/207). In the 29 cases, there were osteogenesis imperfecta in 2 cases, syndactyly in 1 case, cleft hand deformities in 1 case, uncifom hand in 1 case, clubfoot deformity in 12 cases, cleft foot in 1 case, micromelia in 4 cases, limb body wall complex in 1 case, forearm defect in 2 cases, and radius absence in 4 cases. Chromosome karyotype analysis was conducted in 7/29 cases, of which 6 cases were normal and 1 case was trisomy-13 with syndactyly. In addition, the fetal limb deformities were found at 17-19 weeks of gestation in 4 cases, at 20-24 weeks in 23 cases, and at 25-33 weeks in 2 cases. In summary, 27/29 cases were identiifed at 17-24 weeks of gestation. Conclusions Prenatal ultrasound is the ifrst-choice method for screening of fetal limb deformity. The detection rate of limb deformity could be greatly improved by using SCSA method with the supplement of 3D ultrasound.

  10. Congenital cloaca

    Rintala, Risto J.


    Persistent cloaca remains a challenge for pediatric surgeons and urologists. Reconstructive surgery of cloacal malformations aims to repair the anorectum, urinary tract, and genital organs, and achieve fecal and urinary continence as well as functional genital tract capable for sexual activity and pregnancy. Unfortunately, even in most experienced hands these goals are not always accomplished. The endpoint of the functional development of bowel, urinary, and genital functions is the completio...

  11. Congenital Heart Disease in Adults

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

  12. Ulnar club hand surgical outcome: a 14 years study in Imam Khomeini hospital

    Espandar R.


    Full Text Available Background: Ulnar club hand (ulnar deficiency is a rare congenital disorder of the upper extremity. In the Flatt series among 2758 congenital disorders of upper extremity only 28 cases of ulnar deficiency were reported. Due to its rarity and variations in presentation current data in the management of the deformity is very limited. Here we present our experience and results in comparing management of ulnar deficiency.Methods: We include all of the ulnar club hand patients (five boys and one girl with seven involved extremities from 1993 to 2006. After recognizing the type of deformity the classic management approach was performed that was splinting in corrective position until six months of age and then anlage resection. Syndactyly release was done in appropriate age according to involved rays, other operations for restoration of apposition was done after 18 months of age. Two of our patients were neglected, the first one was a 12 years old boy without any ulnar deviation but with syndactyly of the remaining rays and the other was a 32 years old male with severe ulnar deviation and partial syndactyly who is a skillful worker. We determined the effect of anlage resection on ulnar deviation of the wrist and restoration of opposition and syndactyly release on function of the limb.Results: In short term follow up, anlage resection was effective in prevention and correction of ulnar deviation, however the deformity was partially recurred later. Surprisingly, the function of the limb was not significantly affected with the extent of the deformity. On the other hand, the operations used for opposition of the thumb like first metacarpal rotational osteotomies and tendon transfers for powerful opposition, were more effective in the hand and also limb function compared with anlage resection alone.  Conclusions: Due to our observation of the neglected cases, the most important factor in the function of the hand is the function of the thumb, thus we

  13. Congenital pachygyria

    Jing-xia HU


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

  14. Congenital platelet function defects

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

  15. Congenital heart disease

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

  16. Hand Fractures

    ... Z Videos Infographics Symptom Picker Anatomy Bones Joints Muscles Nerves Vessels Tendons About Hand Surgery What is a Hand Surgeon? What is ... serve as a framework. This framework supports the muscles that make the wrist ... When one of these hand bones is broken (fractured), it can prevent you ...




    Full Text Available Congenital pseudoarthosis of tibia is a rare condition. The incidence ranges from 1:140000 to 1:250000. 50 % to 90 % of the cases show association with neurofibromatosis stigmata including skin and osseous lesions. It is usually associated with a dysplastic segment of bone, which undergoes fracture after a trivial trauma or spontaneously. This fracture then goes into non-healing leading to pseudoarthosis. It is a difficult condition to treat and may be associated with complications. Treatment is mainly surgical, aiming at fracture union and maintaining limb length. This is a case report of a 6 year old boy, who presented with progressive deformity of right leg. He was diagnosed with congenital pseudoarthosis and treated accordingly with multiple osteotomies, bone grafting, intramedullary nailing and stabilization with ilizarao external fixator followed by cast immobilization. On follow up deformity was corrected and union was achieved.

  18. Evaluation of congenital heart disease by magnetic resonance imaging

    Roos, A. de; Roest, A.A.W. [Department of Radiology, Leiden University Medical Center (Netherlands)


    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.)

  19. Hand Eczema

    Coenraads, Pieter-Jan


    A 33-year-old woman presents with redness of the hands and reports the intermittent occurrence of tiny vesicles, scaling, and fissuring, accompanied by itching on the palms, fingers, and dorsal sides of the hands. She has two young children and works as a nurse in a nearby hospital. She has a histor

  20. Advantages of intramedullar fixation in treatment of congenital tibial pseudoarthrosis--a case report.

    Kirin, Ivan; Jurisić, Davor; Mokrović, Hrvoje; Salem, Osman; Zamolo, Gordana; Kovacević, Miljenko


    This report describes a case of a 29-year old patient with congenital pseudoarthrosis of the distal tibia previously treated unsuccessfully by a conventional surgical method. Tibial congenital pseudoarthrosis is a rare disease characterized by segmental osseous weakness resulting in deformation of the bone and spontaneous fractures which progresses to a tibial nonunion. In our case we used intramedullary stabilization with bone grafting and six month after operation congenital pseudarthrosis of the tibia healed.

  1. [Hand involvement in systemic sclerosis].

    Mouthon, Luc


    Hand involvement is very common in patients with systemic sclerosis and represents an important tool for the early diagnosis of the disease. Vascular involvement of the hands is at the forefront of systemic sclerosis, with Raynaud's phenomenon, which may be complicated by digital ulcers, digital necrosis causing pain, infection and significant disability. Joint inflammation can also be disabling and causes the occurrence of contractures and deformities resulting in a marked hand disability. Skin sclerosis involving fingers and hands leads to the occurrence of pain and functional impairment. Hand involvement contributes to 75 % of global disability in patients with systemic sclerosis. Only a comprehensive care, taking into account the vascular, skin and joint manifestations, including physical therapy if needed can improve hand function in patients with systemic sclerosis.

  2. Congenital right hemidiaphragmatic agenesis

    Bilal Mirza; Zahid Bashir; Afzal Sheikh


    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right...

  3. Genetics of congenital hypothyroidism

    Park, S.; Chatterjee, V


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

  4. Genetics Home Reference: congenital hypothyroidism

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

  5. What Are Congenital Heart Defects?

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

  6. Hand eczema.

    Agarwal, Uma Shankar; Besarwal, Raj Kumar; Gupta, Rahul; Agarwal, Puneet; Napalia, Sheetal


    Hand eczema is often a chronic, multifactorial disease. It is usually related to occupational or routine household activities. Exact etiology of the disease is difficult to determine. It may become severe enough and disabling to many of patients in course of time. An estimated 2-10% of population is likely to develop hand eczema at some point of time during life. It appears to be the most common occupational skin disease, comprising 9-35% of all occupational diseases and up to 80% or more of all occupational contact dermatitis. So, it becomes important to find the exact etiology and classification of the disease and to use the appropriate preventive and treatment measures. Despite its importance in the dermatological practice, very few Indian studies have been done till date to investigate the epidemiological trends, etiology, and treatment options for hand eczema. In this review, we tried to find the etiology, epidemiology, and available treatment modalities for chronic hand eczema patients.

  7. Congenital Ulnar Drift in a Surgeon

    Desirae McKee


    Full Text Available Windblown hand is a term used in many instances to describe ulnar deviations of the fingers with or without other malformations. In 1994 Wood reviewed all of the descriptions of cases of windblown hand and pointed out how many variants of congenital ulnar drift there are, suggesting that the many variations seen may all belong to a larger type of arthrogryposis. While the most common cause of ulnar deviation of the fingers is rheumatoid arthritis, it can also be caused by other conditions such as windblown hand or Jaccoud’s arthropathy. While most hand surgeons are familiar with presentations of congenital ulnar drift, few of them are knowledgeable about Jaccoud’s arthropathy as this is usually discussed within medical communities such as Rheumatology. We present a case of a surgeon who has had noticeable ulnar deviation of the digits at the level of the metacarpophalangeal joint since his early 20s. We propose that the current case is a demonstration of a type of windblown hand that has some hereditary component but is not immediately obvious at birth and presents physically more like Jaccoud’s arthropathy than traditional windblown hand.

  8. 内耳不完全分隔Ⅱ型畸形并自发性脑脊液耳漏的 CT、MRI 诊断价值%CT and MRI diagnostic value of the congenital inner ear malformation incomplete partition type Ⅱdeformity combined with spontaneous CSF otorrhea

    董燕; 董季平; 杨军乐; 杨想春; 党珊; 刘润


    目的:探讨先天性内耳不完全分隔Ⅱ型畸形(Mondini 畸形)并脑脊液耳漏的高分辨 CT(HRCT)及 MRI 诊断价值。方法回顾性分析本院3例先天性内耳不完全分隔Ⅱ型畸形合并脑脊液耳漏,同时并发反复发作脑膜炎患者的影像学资料,包括HRCT 多平面重组(MPR)、曲面重组(CPR)图像及 MR 内耳水成像图像,观察病变侧内、中耳各解剖结构的形态,总结分析本病的临床及影像学特征。结果1例患者双侧发病,伴半规管发育不全,蜗水管扩大。2例患者为单侧发病,其中1例合并同侧面神经管发育不良。3例患者均有镫骨底板菲薄,内听道底缺损。结论内耳不完全分隔Ⅱ型畸形合并脑脊液耳漏,并发脑膜炎时, HRCT 及后处理、MR 检查可显示内耳、中耳精细的解剖结构,并清晰显示瘘口情况,对该病的诊断具有重要价值。%Objective To discuss the diagnostic value of high resolution computed tomography (HRCT)and MRI in the congenital inner ear malformation incomplete partition type Ⅱ deformity(Mondini deformity)combined with spontaneous cerebrospinal fluid (CSF)otorrhea.Methods The imaging data including the multiplanar reformation(MPR)images of HRCT,curved planar reforma-tion(CPR)images and MR hydrography images in three patients complicated with recurrent meningitis were retrospectively ana-lyzed.The anatomic changes of the inner ear and middle ear on the affected side were observed,the clinical and imaging features of this disease were summarized.Results One patient had bilateral incidence of the incompletely separated inner ear,combined with semicircular canal dysplasia and cochlear pipe dilation.Two patients had unilateral onset,one of them had concurrent facial nerve ca-nal dysplasia.Humble stapes floor and the defect of the bottom of the internal auditory canal were seen in all the three patients.Con-clusion HRCT with post-processing technology,and MRI have great

  9. Congenital Insensitivity to Pain

    Praveen Kumar B,


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

  10. Key aspects congenital infection

    Yu. V. Lobzin


    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.

  11. [Complex diagnosis of congenital cranial dysostosis in children].

    Iakubov, R K; Azimov, M I


    Ten patients (aged 3-15 years) with congenital cranial dysostosis were examined by a pediatrician, geneticist, gastroenterologist, neuropathologist, ophthalmologist, endocrinologist, and orthopaedist. In addition to the clinical signs characteristic of hereditary multiple developmental defects, the study revealed changes in the jaws and temporomandibular joint and local factors promoting the progress of deformations of the jaws. Manifest and inapparent pathological changes and dysfunctions in gastrointestinal organs were paralleled by dysfunctions of the central and autonomic nervous systems, risk of maxillofacial and general deformations, and signs of congenital disorders in calcium, lactic acid, and pyridoxine metabolism. The results necessitate analyses of the blood and urine and development of new methods for the diagnosis of congenital cranial dysostosis and improvement of methods for the correction of this condition.

  12. [Hand infections].

    Schiele, Philippe; Le Nen, Dominique


    Superficial and deep hand infections are frequent in general medical practice. Clinical examination is a crucial step for an adapted provided care. Most of the time, surgery is the only way to heal infections. However, in some cases (like bites), empiric antibiotherapy is first indicated to limit infection. Staphyloccocus aureus as well as Group Beta Streptococcus are the most frequently pathogenes associated with hand infections. Methicillin resistant S. Aureus must always be considered in the diagnoses. Whatever treatment is provided, clinical assessement must be repeated within two days. An early adaquated treatment prevent functional complications and in some cases death of the patients.

  13. Contracture deformity

    Deformity - contracture ... Contracture can be caused by any of the following: Brain and nervous system disorders, such as cerebral ... Follow your health care provider's instructions for treating contracture at home. Treatments may include: Doing exercises and ...

  14. Hand eczema

    Uma Shankar Agarwal


    Full Text Available Hand eczema is often a chronic, multifactorial disease. It is usually related to occupational or routine household activities. Exact etiology of the disease is difficult to determine. It may become severe enough and disabling to many of patients in course of time. An estimated 2-10% of population is likely to develop hand eczema at some point of time during life. It appears to be the most common occupational skin disease, comprising 9-35% of all occupational diseases and up to 80% or more of all occupational contact dermatitis. So, it becomes important to find the exact etiology and classification of the disease and to use the appropriate preventive and treatment measures. Despite its importance in the dermatological practice, very few Indian studies have been done till date to investigate the epidemiological trends, etiology, and treatment options for hand eczema. In this review, we tried to find the etiology, epidemiology, and available treatment modalities for chronic hand eczema patients.

  15. Hand Osteoblastoma

    M. Farzan


    Full Text Available Background and Aim: Osteoblastoma is one of the rarest primary bone tumors. Although, small bones of the hands and feet are the third most common location for this tumor, the hand involvement is very rare and few case observations were published in the English-language literature. Materials and Methods: In this study, we report five cases of benign osteoblastoma of the hand, 3 in metacarpals and two in phalanxes. The clinical feature is not specific. The severe nocturnal, salicylate-responsive pain is not present in patients with osteoblastoma. The pain is dull, persistent and less localized. The clinical course is usually long and there is often symptoms for months before medical attention are sought. Swelling is a more persistent finding in osteoblastoma of the hand that we found in all of our patients. The radiologic findings are indistinctive, so preoperative diagnosis based on X-ray appearance is difficult. In all of our 5 cases, we fail to consider osteoblastoma as primary diagnosis. Pathologically, osteoblastoma consisting of a well-vascularized connective tissue stroma in which there is active production of osteoid and primitive woven bone. Treatment depends on the stage and localization of the tumor. Curettage and bone grafting is sufficient in stage 1 or stage 2, but in stage 3 wide resection is necessary for prevention of recurrence. Osteosarcoma is the most important differential diagnosis that may lead to inappropriate operation.

  16. Hand eczema

    Ibler, K.S.; Jemec, G.B.E.; Flyvholm, M.-A.


    /materials/methods. A survey of 3181 healthcare workers was performed. Data were analysed with logistic regression. Data on sick leave and notification to the authorities were obtained. Results. The response rate was 71% (2274 of 3181). The 1-year prevalence of hand eczema was 21%, and was positively associated with atopic...

  17. Magic Hands


    THE two most amazing things on the planet may well be the human brain and human hands. When they work together, the results can be enchanting. At an international folk art fair held recently in Beijing, artisans and masters from Japan, India, Switzerland, Peru, South

  18. Congenital short pancreas

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


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

  19. Congenital symmastia revisited

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


    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....

  20. Rhinoplasty: congenital deficiencies of the alar cartilage.

    Kosins, Aaron M; Daniel, Rollin K; Sajjadian, Ali; Helms, Jill


    Congenital deficiencies of the alar cartilages are rare and often visible at birth but can occasionally present later. The authors review the anatomical development and discuss the incidence and treatment of congenital defects within the alar cartilages seen in rhinoplasty cases. The charts of 869 consecutive patients who underwent open rhinoplasty were retrospectively reviewed, and 8 cases of congenital defects of the alar cartilage within the middle crura were identified. Intraoperative photographs were taken of the alar deformities, and each patient underwent surgical correction. To simplify analysis, a classification of the defects was developed. A division was a cleft in the continuity of the alar cartilage with the 2 ends separate. A gap was a true absence of cartilage ranging from 1 to 4 mm, which can be accurately assessed in unilateral cases. A segmental loss was a defect greater than 4 mm. The 8 cases of deformity could be classified as 4 divisions, 3 gaps, and 1 segmental loss. None of the patients had a history of prior nasal trauma or nasal surgery. Six patients were women and 2 patients were men. In all cases, adequate projection and stability were achieved with a columellar strut. Asymmetry was minimized through concealer or tip grafts. There were no complications. Surgeons performing rhinoplasty surgery will encounter and should be prepared to deal with unexpected congenital defects of the alar cartilage. These defects within the middle crura will require stabilization with a columellar strut and, often, coverage with a concealer tip graft. We speculate that the cause of these defects is a disruption of the hedgehog signals that may arrest the condensation or block the differentiation of the underlying neural crest cells.

  1. Genetics Home Reference: Leber congenital amaurosis

    ... amaurosis, Leber congenital congenital amaurosis of retinal origin congenital retinal blindness CRB dysgenesis neuroepithelialis retinae hereditary epithelial dysplasia of retina hereditary retinal aplasia heredoretinopathia congenitalis LCA ...

  2. Congenital orbital teratoma

    Shereen Aiyub


    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.

  3. Congenital Ocular Motor Apraxia

    J Gordon Millichap


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

  4. Congenital Adrenal Hyperplasia

    Speiser, Phyllis W


    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group...

  5. Congenital cutis laxa

    Acharya K


    Full Text Available A 16 days old male baby had congenital cutis laxa without family history. He had redundant and lax skin all over the body with slanting of the palpebral fissures medially and broad nasal root.

  6. Congenital lobar emphysema

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


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

  7. Congenital tracheobiliary fistula.

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


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

  8. Congenital adrenal hyperplasia

    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  9. Surgical and conservative treatment of patients with congenital scoliosis: α search for long-term results

    Weiss Hans-Rudolf


    Full Text Available Abstract Background In view of the limited data available on the conservative treatment of patients with congenital scoliosis (CS, early surgery is suggested in mild cases with formation failures. Patients with segmentation failures will not benefit from conservative treatment. The purpose of this review is to identify the mid- or long-term results of spinal fusion surgery in patients with congenital scoliosis. Methods Retrospective and prospective studies were included, reporting on the outcome of surgery in patients with congenital scoliosis. Studies concerning a small numbers of cases treated conservatively were included too. We analyzed mid-term (5 to 7 years and long-term results (7 years or more, both as regards the maintenance of the correction of scoliosis and the safety of instrumentation, the early and late complications of surgery and their effect on quality of life. Results A small number of studies of surgically treated patients were found, contained follow-up periods of 4-6 years that in the most cases, skeletal maturity was not yet reached, and few with follow-up of 36-44 years. The results of bracing in children with congenital scoliosis, mainly in cases with failure of formation, were also studied. Discussion Spinal surgery in patients with congenital scoliosis is regarded in short as a safe procedure and should be performed. On the other hand, early and late complications are also described, concerning not only intraoperative and immediate postoperative problems, but also the safety and efficacy of the spinal instrumentation and the possibility of developing neurological disorders and the long-term effect these may have on both lung function and the quality of life of children. Conclusions Few cases indicate the long-term results of surgical techniques, in the natural progression of scoliosis. Similarly, few cases have been reported on the influence of conservative treatment. In conclusion, patients with segmentation failures

  10. Surgical and conservative treatment of patients with congenital scoliosis: α search for long-term results


    Background In view of the limited data available on the conservative treatment of patients with congenital scoliosis (CS), early surgery is suggested in mild cases with formation failures. Patients with segmentation failures will not benefit from conservative treatment. The purpose of this review is to identify the mid- or long-term results of spinal fusion surgery in patients with congenital scoliosis. Methods Retrospective and prospective studies were included, reporting on the outcome of surgery in patients with congenital scoliosis. Studies concerning a small numbers of cases treated conservatively were included too. We analyzed mid-term (5 to 7 years) and long-term results (7 years or more), both as regards the maintenance of the correction of scoliosis and the safety of instrumentation, the early and late complications of surgery and their effect on quality of life. Results A small number of studies of surgically treated patients were found, contained follow-up periods of 4-6 years that in the most cases, skeletal maturity was not yet reached, and few with follow-up of 36-44 years. The results of bracing in children with congenital scoliosis, mainly in cases with failure of formation, were also studied. Discussion Spinal surgery in patients with congenital scoliosis is regarded in short as a safe procedure and should be performed. On the other hand, early and late complications are also described, concerning not only intraoperative and immediate postoperative problems, but also the safety and efficacy of the spinal instrumentation and the possibility of developing neurological disorders and the long-term effect these may have on both lung function and the quality of life of children. Conclusions Few cases indicate the long-term results of surgical techniques, in the natural progression of scoliosis. Similarly, few cases have been reported on the influence of conservative treatment. In conclusion, patients with segmentation failures should be treated

  11. Congenital imprinting disorders

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


    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...... (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...

  12. Application of VEPTR in the treatment of patients with congenital scoliosis associated with thoracic deformity%纵向可延长钛金属肋骨假体技术治疗先天性脊柱侧弯合并胸廓畸形

    陈博昌; 冯林; 王志刚; 徐蕴岚


    功效和并发症尚待观察.%Objective To explore the experience in the treatment of congenital scoliosis associat ed with thoracic deformity by using VEPTR technique.Methods Five cases suffering congenital scoliosis associated with thoracic deformity were included in the study.There were three males and two females with the average age of 8.3 years(ranging from 4.7 to 12.2 years).All cases had spinal deformity since born and got progressive deterioration.Of the 5 patients,4 had no operation history,while one had accepted sublaminar wire binding in the curve segment of spine.All cases appeared runty and unahie to keep balance.The patients' bodies were prone to fall down to the convex side of spine.All cases had obviously poor pulmonary function.Compared with the normal children with the same age and stature,average VCMAX of the 5 patients was only 32.8%(24.8%~48.1%)and MVV was 34.51%(20.8%~54.4%).Thoracic spine had mixed unsegmental deformities and maldifferenciation.Three cases had the malformation of costodesis in the concavity side of spine.Average Cobb's angle of pa tients before operations was 77.6°(63°~106°).Spine rotation(SR),thoracic rotation(TR)and posture hemithoracic symmetry ratio(PHSR)bv CT scan measurement were respectively 19.6°(11.4°~26.8°);61.4°(34.2°~77.2°)and 2.4°(1.2°~3.4°).No abnorrnal findings were noted bv the MRI scanning.Operations were performed under cord monitoring and all patients underwent one-stage operation.Three cases who had costodesis underwent opening-wedge thoracostomy.Parietal pleura in 4 cases ruptured during operations,but visceral pleura remained perfect.Each patient had one rib-to rib and one rib-to-spine titanium rib.Results All cases were followed up for 12 to 18 months with the average period of 14 months.Twice instrumental lengthenings were performed on the 5 patients,who got obvious improvement of body balance,expending of thorax and lengthening of spine.Average height of patients increased

  13. Deformation microstructures

    Hansen, N.; Huang, X.; Hughes, D.A.


    Microstructural characterization and modeling has shown that a variety of metals deformed by different thermomechanical processes follows a general path of grain subdivision, by dislocation boundaries and high angle boundaries. This subdivision has been observed to very small structural scales...... of the order of 10 nm, produced by deformation under large sliding loads. Limits to the evolution of microstructural parameters during monotonic loading have been investigated based on a characterization by transmission electron microscopy. Such limits have been observed at an equivalent strain of about 10...

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

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


    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.

  15. Haglund's Deformity

    ... to follow the surgeon’s instructions for postsurgical care. Prevention To help prevent a recurrence of Haglund’s deformity: wear appropriate shoes; avoid shoes with a rigid heel back use arch supports or orthotic devices perform stretching exercises to prevent the Achilles tendon from tightening ...

  16. Reconstruction of External Auditory Meatus (Re-EAMs) and Tympanoplasty for、Patients with Congenital Deformation of the Middle and Outer Ears%先天性中外耳畸形外耳道再造与鼓室成形术

    邹艺辉; 杨仕明; 戴朴; 韩维举; 韩东一


    Objective To explore the hearing improvement after reconstruction of external auditory meatus (Re-EAMs) and tympanoplasty for patients with congenital deformation of the middle and outer ears, and provide reference for later treat⁃ment to these kinds of patients. Methods a retrospective analysis of 41 cases (41 ears) with preoperative and postoperative hearing findings undergone Re-EAMs and tympanoplasty patients with congenital deformation of the middle and outer ears in General Hospital of PLA during 2006.7-2012.12. Results The methods for operations were Ossicular chain loosening 41.5%(17/41),Porp implantation 46.3%(19/41), Torp implantation 7.3%(3/41) and inner ear fenestration 4.9%(2/41),with average air conduction hearing threshold pre-and post-operation for 0.5k、1k、2k、4k (58 dB/53dB),(64 dB/52dB),(73 dB/73dB)and (62 dB/46dB)respectively. Conclusion Hearing improvement is not obvious after ossicular chain loosening and Torp implan⁃tation, while significant for Porp implantation and inner ear fenestration, but can’t reach the normal hearing threshold level.%目的:探索先天性中外耳畸形患者耳道再造与鼓室成形术后听力改善情况,为此类患者方案选择提供参考。方法回顾性分析2006年6月~2012年12月我们进行外耳道再造与鼓室成形患者中有术前术后听力的41例(41耳)的情况。结果手术采用听骨链松解41.5%(17/41),Porp植入46.3%(19/41),Torp植入7.3%(3/41),内耳开窗4.9%(2/41)。术前术后0.5k、1k、2k、4k平均气导听阈值分别为(58 dB/53dB),(64 dB/52dB),(73 dB/73dB),(62 dB/46dB).结论听骨链松解与Torp植入术后听力改善不明显,Porp植入和内耳开窗术后听力有明显改善,但未能达到正常听阈水平。

  17. 人工髋节治疗大龄先天性髋关节脱位股骨侧处理要点%Strategy of Implantation of Femoral Stem to Correct Deformity of Femur in Treatment of Congenital Hip Dislocation with Total Hip Arthroplasty

    张峡; 郝勇; 周跃; 任先军; 初同伟


    目的 分析大龄先天性髋关节脱位患者股骨侧病理变化特点,探讨置人股骨柄的难点,总结应用人工髓关节治疗大龄先天性髋关节脱时股骨柄置人应遵循的一般原则.方法 应用人工髋关节置换术治疗37例大龄先天性脆关节脱位,术前行影像学检查,评估患者股骨上段畸形的部位、类型及程度.术前及术后对患者髋关节功能行Hams评分,分析手术疗效.结果 术后随访3-38个月,平均19个月,股骨上段旋转畸形得到矫正,股骨假体无一侧松动及下沉,所有截骨处均获得骨性愈合,术后1例脱位,Hams评分由术前的(54±2.61)分增加至随访时的(87.24±5.62)分(P <0.01).结论 大龄先天性髋关节脱位患者股骨上段发育差,股骨及髓腔变小、变直,股骨上段于股骨小粗隆下方发生外旋,股骨柄与股骨髓腔达到牢固压配固定的同时,还要注意充分矫正股骨上段旋转畸形.如股骨颈前倾角大于25°,应行股骨小粗隆下方旋转截骨,必要时选用长柄增加固定有效性,促进截骨处骨折愈合.术前有手术史、脱位程度高及部分腰椎柔韧性较差的患者,需行股骨缩短术,以防术后出现难以矫正的肢体假长.%Objective To analyze the characteristics of the femoral deformity and the possible difficulties encountered in the implantation of femoral stem in the treatment of congenital hip dislocation patient with total hip arthroplasty. Methods Thirty seven patients with congenital hip dislocation were treated by total hip arthroplasty between February 2004 and April 2007. Femur deformities were fully evaluated before operations. Dysplastic femurs had shorter necks and smaller, straighter canals. The primary deformity of the dysplastic femur was rotation, which arised within the diaphysis between the lesser trochanter. Results All of the hips were followed up for 3~38 months.Osteotomy of the femur were all get united. There were no loosening of the femoral

  18. Genetics of Congenital Cataract.

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


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

  19. Adults with Congenital Heart Defects

    ... Disease Venous Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Aug 29,2017 ... the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with ...

  20. Congenital tracheobronchial stenosis.

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J


    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Congenital cataract screening

    Zhale Rajavi


    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.

  2. Congenital Syphilis: literature review

    Eduardo Chaida Sonda


    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.

  3. Congenital right hemidiaphragmatic agenesis

    Bilal Mirza


    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  4. Congenital right hemidiaphragmatic agenesis.

    Mirza, Bilal; Bashir, Zahid; Sheikh, Afzal


    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  5. Nitrofurantoin and congenital abnormalities

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


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

  6. Congenital Cataract Screening

    Rajavi, Zhale; Sabbaghi, Hamideh


    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  7. Congenital Heart Defects (For Parents)

    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  8. Congenital Abdominal Wall Defects

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


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

  9. Congenital Toxoplasmosis: A Review.

    Hampton, Marissa Martinez


    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  10. Congenital preduodenal portal vein

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)


    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  11. Ullrich Congenital Muscular Dystrophy

    Goknur Haliloglu


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

  12. Ullrich Congenital Muscular Dystrophy

    Goknur Haliloglu


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

  13. Congenital heart disease


    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  14. Congenital laryngeal anomalies,

    Michael J. Rutter


    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.

  15. Occurrence of radial club hand in children with different syndromes

    Наталья Валерьевна Авдейчик


    Full Text Available Aim. Clinical analysis of congenital radial club hand as part of some genetic syndromes as well as the optimization of methods of non-surgical and surgical treatment of patients with this pathology. Material and Methods. From 2007 to 2014, we conducted a survey of 170 children with congenital radial club hand. Among them, 32 patients were diagnosed (18.8% with different syndromes. We assessed the degree to which the radius was underdeveloped among this group of patients as well as the management features of patients according to various comorbidities. Results. The assessment identified Holt-Oram syndrome in 17 children (nine boys and eight girls; 53.1% and TAR-syndrome in nine children (four boys and five girls; 28.1%. VACTERL syndrome was detected in four male patients (12.5% and Nagera syndrome was observed in two children (one boy and one girl; 6.25%. Surgical treatment of radial club hand in patients with genetic syndromes is the same as that of the patients with isolated congenital radial club hand: a single- or two-stage correction of the hand relative to the ulna with subsequent reconstruction of the rays of the hand. The duration of treatment of such patients did not significantly differ compared to the patients with isolated congenital radial club hand. Conclusion. Congenital radial club hand, identified as part of genetic syndromes, requires a comprehensive examination to diagnose comorbidities, observation, and treatment by specialists to determine the optimal age for surgical correction of the existing strain of the upper limb.

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

    Nebil Yesiloglu


    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

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

    Nebil Yesiloglu; Hakan Sirinoglu; Gokhan Temiz


    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

  18. Avoiding unfavorable results in postburn contracture hand

    Bhattacharya, Sameek


    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

  19. Avoiding unfavorable results in postburn contracture hand

    Sameek Bhattacharya


    Full Text Available 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.

  20. Pseudoamblyopia in Congenital Cyclotropia

    Antonio Frattolillo


    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.”

  1. Identification of congenital deafblindness

    Dammeyer, Jesper Herup


    the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  2. Congenital Erythropoietic Porphyria (CEP)

    ... gov Website: References JOURNAL ARTICLES Christiansen AL, Aagaard L, Krag A, Rasmussen ... homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic ... a Doctor Clinical Studies Porphyria featured Television and Other Media AIP ...

  3. Congenital cutis laxa

    Pavithran K


    Full Text Available A case of congenital cutis laxa is reported in a male infant. Heavy wrinkles on the forehead, ectropion of the lower eyelids and sagging of the skin of the cheeks and chin gave the appearance of ar, old man. In spite of extensive skin involvement, the general health of the child remained unaffected.

  4. Giant Congenital Melanocytic Nevus

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn


    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  5. Congenital Heart Information Network

    ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  6. Congenital contractural arachnodactyly.

    Bjerkreim, I; Skogland, L B; Trygstad, O


    Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.

  7. Congenital heart disease


    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  8. Congenital Absence of Tibia

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee


    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  9. Congenital Lumbar Hernia

    Sanjay Sharma


    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  10. Echocardiographic evaluation of right ventricular function in congenital heart disease

    Yiu-fai Cheung


    Objective This review aims to provide an overview of conventional and novel indices used in clinical and research arenas for evaluation of right ventricular (RV) function in congenital heart diseases with a dual-chambered circulation.Data sources Articles cited in this review were selected using PubMed search of publications in English with no date limits.The search terms included "echocardiography","right ventricle","RV function","cardiac function",and "congenital heart disease".Key references were also searched for additional publications.Study selection Articles related to description of echocardiographic techniques in the evaluation of subpulmonary or systemic RV function and their applications in congenital cardiac malformations were retrieved and reviewed.Results Three approaches have been used to evaluate subpulmonary and systemic RV function:(1) assessment of changes in RV size in the cardiac cycle,(2) determination of Doppler-derived velocities and systolic and diastolic time intervals,and (3) quantification of myocardial velocities and deformation.Conclusions Conventional and novel echocardiographic techniques enable the evaluation of subpulmonary and systemic RV function.Novel echocardiographic techniques have further allowed quantification of RV volumes and direct interrogation of myocardial deformation.These new techniques show promise in a more comprehensive evaluation beyond "eye-bailing" of RV function in the growing population of adolescent and adult congenital heart patients.

  11. Congenitally corrected transposition

    Debich-Spicer Diane


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

  12. Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula.

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


    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. Histopathological examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity.

  13. Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula

    Teo, Harvey E.L.; Peh, Wilfred C.G. [KK Women' s and Children' s Hospital, Department of Diagnostic Imaging, 100 Bukit Timah Road (Singapore); Akhilesh, M. [KK Women' s and Children' s Hospital, Department of Pathology, 100 Bukit Timah Road (Singapore); Tan, S.B. [Singapore General Hospital, Department of Orthopaedic Surgery, Outram Road (Singapore); Ishida, T. [Kanto Medical Center, Department of Pathology, Tokyo (Japan)


    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.)

  14. Neuropathic osteoarthropathy in a patient with congenital insensitivity to pain.

    Mobini, Maryam; Javadzadeh, Ali; Forghanizadeh, Jafar


    This report describes a 23-year-old man who presented with multiple joint deformities as a consequence of multiple painless intra-articular fractures.Blood counts, biochemistry, and nerve conduction velocity were all normal. X-ray studies showed joint destruction in hips, elbows and knees.We concluded that he is a case of congenital insensitivity to pain culminating in multiple charcot joints.

  15. 后路全脊椎截骨治疗严重僵硬性先天性脊柱畸形神经系统并发症及其危险因素分析%Neurological complications of posterior vertebral column resection for severe rigid congenital spinal deformities

    张涛; 陶惠人; 黄景辉; 李涛; 沈超; 陈博; 陈向波; 杨卫周; 刘明


    目的 探讨后路全脊椎截骨治疗严重僵硬性先天性脊柱畸形的神经系统并发症及其危险因素.方法 收集2007年6月至2012年11月在第四军医大学西京医院接受后路全脊椎截骨治疗的88例严重僵硬性先天性脊柱畸形患者的临床资料,男性39例,女性49例,年龄6~46岁,平均16.9岁.测量患者术前、术后及随访时Cobb角、平衡情况,记录手术情况、神经系统并发症及随访情况等.对患者的年龄、Cobb角、手术时间、体重指数、肺功能、出血比、截骨部位、固定椎体数、切除椎体数、使用cage/钛网情况、术前神经功能状况、畸形类型、合并椎管内畸形情况进行单因素分析,对有意义的因素进行多因素Logistic回归分析.结果 所有患者平均随访42个月(19 ~ 83个月),平均切除椎体1.3个(1~3个),平均手术时间502 min(165 ~ 880 min),平均出血量2 238 ml(100 ~11 500 ml),平均出血比69.3%(9% ~299%).冠状位Cobb角由术前平均93.6°矫正至22.2°,末次随访22.9°,矫形率76.8%.冠状位失衡(绝对值)由术前平均2.5 cm减少至1.3 cm.矢状位Cobb角由术前平均88.2°矫正至28.7°,末次随访29.2°,矢状位Cobb角平均减少59.0°.矢状位失衡(绝对值)由术前平均3.1 cm减少至1.2 cm.发生神经系统并发症12例(13.6%).手术时间≥480 min、肺功能异常、出血比>50%、T7~T9截骨及术前神经功能异常患者神经系统并发症发生率较高(P=0.046,0.000,0.000,0.033,0.043).结论 后路全脊椎截骨治疗严重脊柱畸形疗效显著,肺功能异常、出血比>50%是发生神经系统并发症的高危因素.%Objective To analyze the risk factors of neurological complications of posterior vertebral column resection in the treatment of severe rigid congenital spinal deformities.Methods The clinical data of 88 patients with severe rigid congenital spinal deformities who underwent PVCR in Department Of Orthopaedics


    David Neubauer


    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.

  17. Autobiographic narratives of congenital blind people

    Maria Elisa Caputo Ferreira


    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.

  18. Congenital Pouch Colon

    Vivek Gharpure


    Full Text Available Face The Examiner:QUESTIONS1. What are the diagnostic features of congenital pouch colon (CPC?Ans: A male patient with CPC often have a wide colovesical fistula and present with anorectal malformation and meconuria; on plain abdominal film, a single large bowel loop occupying more than 50% of the abdominal cavity is also a diagnostic sign. Girls (persistent cloaca/vestibular fistula/anteriorly placed anus etc. often present late with intractable constipation or multiple episodes of enterocolitis and persistent abdominal distension with common cloaca or anterior ectopic anus/ rectovestibular fistula. The congenital pouch colon can be identified as replacement of a part or entire colon in the configuration of pouch that lacks taenia coli, haustrations, appendices epiploicae, abnormal blood supply and a wide fistula with genitourinary system in a patient of anorectal malformation.

  19. Fetal congenital lobar emphysema.

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi


    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  20. Congenital lipodystrophies and dyslipidemias.

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


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

  1. Congenital diaphramatic hernia

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)


    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  2. Congenital alopecia universalis

    Vicente de Jesús Alvarez Yabor


    Full Text Available Congenital alopecia universalis is a type of infrequent recessive autosomal alopecia caused by genetic mutations; it is characterized by the total or localized absence of hair due to any birth disorder. This is a case of a 4-year-old female patient born with total absence of hair, both her scalp and whole body; she received medical treatment without satisfactory results. All the investigations were within normal limits, the differential diagnosis was ruled out through the analysis of family medical history and not showing alterations in bone or teeth structure, as well as normal sweating; the final diagnosis was confirmed through a scalp biopsy that revealed dermis with rudimentary sebaceous glands, immature and scarce hair follicles and corneous plugs compatible with congenital alopecia universalis without associated defects. The patient is treated and followed in dermatology and psychology consultations. The clinical situation has not been resolved to the moment.

  3. Ullrich Congenital Muscular Dystrophy


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

  4. A case of Fabry's disease with congenital agammaglobulinemia.

    Lee, Ki-Yeol; Jeon, Su-Young; Hong, Jin-Woo; Kim, Sung-Eun; Song, Ki-Hoon; Kim, Young-Hun; Kim, Ki-Ho


    Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.

  5. Intrauterine Tobacco Smoke Exposure and Congenital Heart Defects.

    Forest, Sharron; Priest, Sandra


    Tobacco use and second-hand smoke exposure during pregnancy are linked to a host of deleterious effects on the pregnancy, fetus, and infant. Health outcomes improve when women quit smoking at any time during the pregnancy. However, the developing heart is vulnerable to noxious stimuli in the early weeks of fetal development, a time when many women are not aware of being pregnant. Congenital heart defects are the most common birth defects. Research shows an association between maternal tobacco exposure, both active and passive, and congenital heart defects. This article presents recent evidence supporting the association between intrauterine cigarette smoke exposure in the periconceptional period and congenital heart defects and discusses clinical implications for practice for perinatal and neonatal nurses.

  6. Congenital syphilis, still a reality.

    Gupta, Rajat; Vora, Rita V


    Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. Even one case of congenital syphilis is a sentinel public health event, since timely diagnosis and treatment of syphilis infected pregnant woman should prevent transmission almost entirely. Here, we are reporting a case of early symptomatic congenital syphilis presented with severe desquamating papulosquamous lesions over multiple body parts along with erosive lesions around oral cavity and nostrils.

  7. Congenital agenesis of seminal vesicle

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang


    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  8. Early detection of congenital syphilis

    Nagalakshmi Chowdhary


    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.

  9. Genetics Home Reference: critical congenital heart disease

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

  10. Genetics Home Reference: congenital diaphragmatic hernia

    ... Home Health Conditions congenital diaphragmatic hernia congenital diaphragmatic hernia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, ...


    José Antonio Mancuso Filho

    Full Text Available ABSTRACT Objective: This study aimed to determine whether surgery leads to changes in sagittal balance in patients with congenital scoliosis. Methods: We retrospectively reviewed all cases of scoliosis operated in a tertiary hospital between January 2009 and January 2013. In all cases the deformity in the coronal and sagittal planes, kyphosis, and lordosis were measured, using the Cobb method, and spinopelvic parameters: pelvic incidence (PI, sacral slope (SS, and pelvic tilt (PT. Results A hundred and eleven medical records were analyzed, but the sample resulted in 10 patients, six of whom were females (60%. The average age was 13.4 years. In the comparative analysis between pre and postoperative, only the coronal deformity (12.37; CI 95% [7.88-16.86]; p<0.001, the sagittal deformity (12.71; CI 95% [4.21-21.22]; p=0.011, and the lumbar lordosis (9.9; CI 95% [0.38-19.42]; p=0.043 showed significant change. Conclusion: There was no change in the spinopelvic parameters of patients with congenital scoliosis undergoing surgery at IOF-FMUSP between 2009 and 2013; however, it was observed decrease in lumbar lordosis, and deformity angle in the sagittal and coronal planes.

  12. Hand Dominance and Common Hand Conditions.

    Lutsky, Kevin; Kim, Nayoung; Medina, Juana; Maltenfort, Mitchell; Beredjiklian, Pedro K


    The goals of this study were to (1) assess how frequently patients present for evaluation of common hand disorders in relation to hand dominance and (2) evaluate the effect of hand dominance on function in patients with these conditions. The authors hypothesized that (1) the majority of patients who seek evaluation would have a condition that affects the dominant hand, and (2) disability scores would be worse if the dominant hand is involved. They retrospectively reviewed the records of consecutive patients who presented for treatment to their institution with unilateral symptoms of 5 common disorders of the hand: carpal tunnel syndrome (CTS), de Quervain's tenosynovitis (DEQ), lateral epicondylitis (LE), hand osteoarthritis (OA), and trigger finger (TF). The authors assessed the effect of diagnosis and hand dominance on Disabilities of the Arm, Shoulder and Hand (DASH) scores. The study group comprised 1029 patients (379 men and 650 women) with a mean age of 59.5 years. Ninety percent were right-hand dominant. The dominant and nondominant hands were affected with relatively equal frequency for CTS, DEQ, OA, and TF (range, 45%-53%). Patients with LE had a significantly higher incidence of dominant hand involvement. Men had lower DASH scores than women by an average of 7.9 points, and DASH scores were significantly but slightly higher for the overall group (3.2 points) when the dominant side was affected. Men with LE and women with TF and OA had significantly higher DASH scores when their dominant extremity was affected. Common hand disorders such as CTS, DEQ, OA, and TF affect the dominant and nondominant hands in roughly equivalent proportions, whereas LE is more common on the dominant side. Dominant hand involvement results in significantly worse DASH scores, although the magnitude of this is relatively small. Women have significantly higher DASH scores than men for the conditions evaluated. [Orthopedics. 2016; 39(3):e444-e448.].

  13. Congenital distal humeral dysplasia: a case report

    Joseph, Benjamin; Varghese, Renjit A. [Department of Orthopaedics, Kasturba Medical College, Manipal 576119, Karnataka State (India)


    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.)

  14. Cochlear implantation in congenital cochlear abnormalities.

    Ahmad, R L; Lokman, S


    Many children have benefited from cochlear implant device including those with congenital malformation of the inner ear. The results reported in children with malformed cochlea are very encouraging. We describe 2 cases of Mondini's malformation with severe sensorineural hearing loss. Cochlear implantation was performed and both of them underwent post-implantation speech rehabilitation. Post-implantation, both of them were noted to respond to external sound. But the second case developed facial twitching a few months after the device was switched on. It is important to evaluate the severity of the inner ear deformity and the other associated anomalies in pre-implantation radiological assessment in order to identify the problem that may complicate the surgery and subsequent patient management.




    Full Text Available BACKGROUND : Majority of congenitally deaf children are at risk of cardiac abnormalities in the form of long QT syndrome which could be due to an intracardiac abnormality or autonomic dysfunction. Altered sympathetic/parasympathetic balance as a result of the absence of auditory stimuli on the autonomic nervous system results in lower mean heart rate in congenitally deaf children. OBJECTIVES: To evaluate whether the cardiovascular autonomic functions are altered in congenitally deaf children. MATERIALS AND METHODS: 30 congenitally deaf children aged between 14 - 18 yrs and 30 age matched controls were included for the study. Parasympathetic activity was assessed by observing the heart rate changes to immediate standing from lying down position, heart rate changes during deep breathing and heart rate changes during valsalva maneuver. Sympathetic activity was assessed by observing blood pressure changes on immediate standing from lying down position and blood pressure changes during sustained hand grip. RESULTS: The results of the present study showed statistically significant decrease in the systolic blood pressure in response to immediate standing among congenitally deaf children suggestive of sympathetic imbalance and an early stage of autonomic dysfunction.

  16. Molecular and Genetic Studies of Congenital Myopathies


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

  17. Treatment of congenital clubfoot using Ponseti method

    Alceu José Fornari Gomes Chueire


    Full Text Available ABSTRACT OBJECTIVE: To quantitatively and qualitatively analyze the results from treatment of congenital clubfoot with a mean follow-up of 4.6 years. METHODS: 26 patients who underwent treatment by means of the Ponseti method were analyzed (total of 39 feet. The mean age at the start of the treatment was 5.65 months. The mean length of the follow-up subsequent to tenotomy of the Achilles tendon was 4.6 years. Patients with secondary clubfoot were excluded. Epidemiological data, radiographic measurements on the Kite angle and data from a satisfaction questionnaire and the Laaveg questionnaire were analyzed. RESULTS: Among the 26 patients treated, one presented recurrence of the deformity and had to return to the beginning of the treatment. The mean score from the questionnaire and physical examination was 89.76 points, and this result was considered good. 99% of the patients responded that their feet never hurt or hurt only upon great activity; 88% said that their feet did not limit their activities; and 96% said that they were very satisfied or satisfied with the results from the treatment. The mean Kite angle in anteroposterior view was 28.14° and it was 26.11° in lateral view. CONCLUSION: Treatment for idiopathic congenital clubfoot by means of the Ponseti method brings better results together with less soft-tissue injury, thus confirming the effectiveness and good reproducibility of this method.

  18. Congenital subtalar dislocation--a case report.

    Saini, Raghav; Dhillon, M S; Gill, S S


    Congenital dislocation of the subtalar joint is one of the rarest forms of presentation of a calcaneo-valgus foot. We report the second case of this type published; an 18-month female child aged was seen with calcaneo-valgus deformity of left foot since birth. She was walking over the medial malleolus and medial border of foot. Radiographs and 3D CT scan of the left foot confirmed the diagnosis of a congenital subtalar dislocation. Surgical correction was achieved through a posterolateral incision, and the reduced joint was fixed with a k-wires for 6 weeks; the foot was immobilized in below knee cast for another 6 weeks, and an ankle foot orthosis was used for another 3 years. At 3 years post-surgical follow up, the child has a plantigrade foot with no functional impairment. Follow up radiographs and 3D CT scan confirmed the maintenance of well aligned talo-calcaneal joint. This type of dislocation should be considered in the differential diagnosis of calcaneo-valgus foot; a clear understanding of the pathology, a precise operative reduction, and long-term use of orthosis results in a favourable outcome.

  19. Congenital fiber type disproportion--30 years on.

    Clarke, Nigel F; North, Kathryn N


    Thirty years ago, M. H. Brooke coined the term "congenital fiber type disproportion" (CFTD) to describe 12 children who had clinical features of a congenital myopathy and relative type 1 fiber hypotrophy on muscle biopsy. It is now clear that this histological pattern can accompany a wide range of neurological disorders, leading to disillusionment with CFTD as a distinct nosological entity. To determine whether the CFTD has clinical utility as a diagnostic entity, we have reviewed the literature for cases of type 1 fiber hypotrophy and have used strict exclusion criteria to identify 67 cases of CFTD. Most patients presented at birth with weakness and hypotonia, had normal intelligence, and followed a static or improving clinical course. In 43% of families, more than 1 individual was affected. Failure to thrive was common and 25% of patients had contractures or spinal deformities. Bulbar weakness and ophthalmoplegia were less common and cardiac involvement was rare. Twenty-five percent followed a severe course and 10% had died at the time of reporting, all from respiratory failure. Ophthalmoplegia and facial and bulbar weakness were significantly associated with a poorer prognosis. The relatively homogeneous phenotype supports the retention of CFTD as a distinct diagnostic entity and familial occurrence suggests a genetic basis. Regarding the diagnosis of CFTD, we found no strong evidence that the minimum difference between type 1 and type 2 fiber sizes should be increased from 12% to 25%. We also list the other reported causes of relative type 1 fiber hypotrophy to aid their exclusion from CFTD.

  20. Avaliação tomográfica do posicionamento de parafusos pediculares em deformidades na coluna torácica e lombar introduzidos com base na técnica "free hand" Evaluación tomográfica de la colocación de tornillos pediculares en deformidades de la columna torácica y lumbar, introducidos con base en la técnica "free hand" Tomographic evaluation of the placement of pedicle screws used in deformities of the thoracic and lumbar spine based on the "free hand" technique

    Dante Bernardes Giubilei


    ículo, 244 (86% de los parafusos fueron colocados entre las corticales o apenas las tocaron. Lesión cortical lateral se observó en 16 tornillos y lesión cortical medial en 13 tornillos. Fue mayor el número de violaciones torácicas. CONCLUSIÓN: El uso de tornillos pediculares en la instrumentación de las vértebras torácicas y lumbares en la escoliosis demostró ser seguro y eficaz cuando se aplican a diferentes niveles con la técnica de "free hand''. En las vértebras torácicas, las violaciones de la cortical pedicular fueron más frecuentes, pero sin poner en peligro la estabilidad de la fijación y sin dañar estructuras neurales, vasculares y viscerales.OBJECTIVE: To evaluate the placement of pedicle screws in the vertebrae of the thoracic and lumbar spine in patients with scoliosis using the"free hand" technique. METHODS: Evaluation of CT scans of 284 pedicle screws in 15 patients (seven men and eight women aged between 12 and 39 years (mean 16.7 years with scoliosis. The screws were inserted from T2 to S1 for the following conditions: two congenital scoliosis and 13 neuromuscular, to evaluate the placement of screws in relation to the walls of pedicles. RESULTS: Regarding the cortical pedicle screws, 244 (86% were positioned between the cortical or just touching it. Lateral cortical lesion was seen in 16 screws and medial cortex lesion in 13 screws, being greater the number of violations in the thoracic vertebrae. CONCLUSION: The use of pedicle screw instrumentation in thoracic and lumbar vertebrae for scoliosis proved safe and effective when applied to different levels with the "free hand" technique. In the thoracic vertebrae, the pedicular cortical violations were more frequent, but did not impair the stability of fixation and did not injure the neural, vascular and visceral structures.

  1. Hand Hygiene Saves Lives

    Full Text Available ... children, parents, and public health professionals. More > Hand Hygiene Saves Lives (5:10) Recommend on Facebook Tweet Share Compartir Hand Hygiene Saves Lives Hand Hygiene Saves Lives Transcript [28 KB, 2 pages] High ...

  2. Hand Hygiene Saves Lives

    Full Text Available ... including, children, parents, and public health professionals. More > Hand Hygiene Saves Lives (5:10) Recommend on Facebook Tweet Share Compartir Hand Hygiene Saves Lives Hand Hygiene Saves Lives Transcript [28 KB, 2 pages] High ...

  3. Hand Hygiene Saves Lives

    ... including, children, parents, and public health professionals. More > Hand Hygiene Saves Lives (5:10) Recommend on Facebook Tweet Share Compartir Hand Hygiene Saves Lives Hand Hygiene Saves Lives Transcript [28 KB, 2 pages] High ...

  4. Guideline Implementation: Hand Hygiene.

    Goldberg, Judith L


    Performing proper hand hygiene and surgical hand antisepsis is essential to reducing the rates of health care-associated infections, including surgical site infections. The updated AORN "Guideline for hand hygiene" provides guidance on hand hygiene and surgical hand antisepsis, the wearing of fingernail polish and artificial nails, proper skin care to prevent dermatitis, the wearing of jewelry, hand hygiene product selection, and quality assurance and performance improvement considerations. This article focuses on key points of the guideline to help perioperative personnel make informed decisions about hand hygiene and surgical hand antisepsis. The key points address the necessity of keeping fingernails and skin healthy, not wearing jewelry on the hands or wrists in the perioperative area, properly performing hand hygiene and surgical hand antisepsis, and involving patients and visitors in hand hygiene initiatives. Perioperative RNs should review the complete guideline for additional information and for guidance when writing and updating policies and procedures.

  5. Prevalence of Congenital Malformations

    Akhavan Karbasi Sedighah


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

  6. Effects of systematic rehabilitation training and mental intervention on the prevention of scar deformities of deep hand burn%系统性康复训练及心理干预预防手部深度烧伤后瘢痕畸形的效果

    何柳; 朱文君


    Objective To apply and evaluate the effects systematic rehabilitation training on patients with scar deformity after the deep hand burn and carry out mental intervention. Methods A total of 66 patients with scar deformity after the deep hand burn were randomly admitted to either observation group ( n=33 ) or control group (n=33). Statistical software was used for random number method. The patients of control group adopted routine treatment nursing measures and the patients of observation group received early prevention and treatment measures, and psychological intervention. We compared and analyzed the two groups of patients with rehabilitation, psychological status and satisfaction and so on. Results The patients in the observation group were better in hand function rehabilitation, excellent in 17 cases, good in 12 cases and poor in 4 cases comparing with control group, in 33 cases of the control group, it was excellent in 7 cases, good in 10 cases and poor in 16 cases(P<0. 01). The average SF-36 score of the observation group was (81. 37 ± 4. 71), and that of the control group was (69.46 ±4.53), and the patient satisfaction of the observation group was higher(P<0. 05). Conclusions Systematic training can benefit the recovery of hand deep burn while mental intervention can promote patients′ psychological health, so this kind of patients should be taken positive treatment interventions combined with mental intervention in clinic.%目的:对手部深度烧伤后瘢痕畸形的患者采取系统性的康复训练,并加以心理干预,评价其效果。方法随机选取解放军总医院第一附属医院手部深度烧伤且瘢痕畸形患者66例,应用统计软件取随机数法将其均分为两组,其中33例患者作为观察组,采取早期预防和治疗措施,并加以心理干预;另外33例患者作为对照组,对其仅采取常规诊疗和护理措施。对比分析两组患者的康复情况、心理状态及满意度等。结果

  7. Congenital Diaphragmatic Hernia

    Tovar Juan A


    Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

  8. Congenital erythropoietic porphyria

    Wen-Hao Lee


    Full Text Available Congenital erythropoietic porphyria (CEP, or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase, the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood’s lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC and a porphyrin profile compatible with CEP.

  9. Surgery for Congenital Cataract

    David Yorston FRCS FRCOphth


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

  10. Congenital familial hypertonia.

    DeLuca, Carl F; Cashore, William J


    1. This complex of symptoms appears to be congenital, familial, and hereditary. It is apparently transmitted by a dominant gene, probably on chromosome 5. 2. Hypertonicity with rigidity of all voluntary muscles usually presents at birth. 3. Feeding problems are due to dysphagia or laryngospasm associated with aspiration and dyspnea. 4. Respiratory problems are characterized by apneic episodes due to muscle spasm. 5. Prolonged episodes of muscular rigidity secondary to sudden stimuli result in frequent falls, characteristically en bloc, like a statue. 6. Continuous electromyographic activity even at rest (with absence of fasciculations) improves after intravenous diazepam.

  11. Systemic congenital lymphangiomatosis

    Ligia Maria Suppo de Souza

    Full Text Available Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

  12. Nonclassic Congenital Adrenal Hyperplasia

    Selma Feldman Witchel


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

  13. Congenital acute megakaryocytic leukemia

    N B Mathur


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

  14. Congenital granular cell epulis.

    Conrad, Rachel; Perez, Mia C N


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

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

    Yannick eBleyenheuft


    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.

  16. Congenital nystagmus and negative electroretinography

    Roussi M


    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

  17. Dupuytren Contracture in a Patient with Congenital Camptodactyly and Incidental Carpal Tunnel Syndrome

    S Mahendran


    Full Text Available Dupuytren contracture is commonly seen in northern European populations but not in Asians. Even more rare is a presentation of flexion deformity of fingers involving two different pathologies with incidental carpal tunnel syndrome in the same patient. We report herein a case of Dupuytren contracture with congenital camptodactyly and unilateral carpal tunnel syndrome.

  18. Congenital peritoneal encapsulation

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


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

  19. Congenital extrahepatic portosystemic shunts

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


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

  20. [Genetics of congenital deafness].

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia


    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  1. Congenital nephrotic syndrome

    Claudia Fanni


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

  2. Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.

    Moghbeli, Meysam; Maleknejad, Mahmood; Arabi, Azadeh; Abbaszadegan, Mohammad Reza


    Porphyrias are rare metabolic hereditary diseases originating from defects in specific enzymes involved in the heme biosynthesis pathway. Congenital erythropoietic porphyria (CEP) is the rarest autosomal recessive porphyria resulting from a deficiency of uroporphyrinogen III cosynthase (UROS), the fourth enzyme in heme biosynthesis. CEP leads to an excessive production and accumulation of type Ι porphyrins in bone marrow, skin and several other tissues. Clinical manifestations are presented in childhood with severe cutaneous photosensitivity, blistering, scarring and deformation of the hands and the loss of eyebrows and eyelashes. Less than 200 cases of CEP have been reported to date. Four CEP patients and their family members were studied for the first time in Iran. A missense mutation in the UROS gene was identified in this family. A, T to C change at nucleotide 34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in these 4 patients and heterozygous state in their parents. Our data from the Iranian population emphasizes the importance of codon 237 alone, given the rarity of this disease. This fact can be taken into consideration in the mutational analysis of UROS. This work emphasizes the advantages of molecular genetic techniques as diagnostic tools for the detection of clinically asymptomatic heterozygous mutation carriers as well as CEP within families.


    Rubi Saikia


    Full Text Available BACKGROUND Congenital external ear malformations like Microtia, Anotia, Preauricular skin tags, etc. cause severe psychological problems in children. If accompanied with atresia of the external auditory canal and the middle ear; hearing loss, developmental delays are also associated with such malformations. AIM The aim of the present study is to evaluate the commonly occurring congenital external ear defects in this part of India. MATERIALS AND METHODS This study was undertaken in patients attending the Plastic Surgery OPD at Assam Medical College Hospital and Smile Train Centre at Srishti Hospitals and Research Centre at Dibrugarh, Assam, from July 2013 to July 2016. We did an analysis of 25 patients with visibly noticeable external ear deformities and recorded the findings as per proforma and took photographs. RESULTS Among the 25 cases, 9 (36% were males and 16 (64% were females. The most common congenital anomaly that we found was microtia 7 (28%. Of these, 1 (4% was isolated microtia and 6 (24% were associated with hemifacial microsomia. The second common finding was preauricular skin tags 5 (20%. 3 of the microtia cases also presented with external auditory canal atresia and hearing loss. CONCLUSION Congenital anomalies of the external ear can seriously change a child’s personality. Proper diagnosis and treatment of such cases will definitely reduce the possible psychological, physical and financial problems of the patient and family as most of them are surgically correctable.

  4. Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

    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


    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

  5. Posterior release and spinal wedge osteotomy for congenital thoracolumbar hemivertebra with severe rigid kyphoscoliosis deformity%后路松解楔形截骨矫治先天性胸腰段半椎体并重度僵硬性脊柱侧后凸畸形

    李海江; 李超; 付青松; 周宇; 赵刚; 于海洋


    侧后凸畸形安全有效,选择TV作为LIV可以减少融合节段.%Objective:To evaluate the early clinical outcome of posterior release and spinal wedge osteotomy for congenital thoracolumbar hemivertebra with severe rigid kyphoscoliosis deformity and to discuss the selection of fusion and fixation.Method:From April 2007 to March 2010,11 patients suffering from congenital thoracolumbar hemivertebra complicated with severe rigid kyphoscoliosis were reviewed retrospectively.There were 4 males and 7 females with an average age of 17.1 years (range, 14-22 years).All hemivertebrae were single fully segmented,which were sited in Til in 3 cases,T12 in 4 cases,LI in 1 case and L2 in 3 cases.The mean preoperative scoliosis Cobb angle was 94.4°(range,82°-125°).The mean scoliosis flexibility was 24.8% (range, 17.4%-28.9% ).The mean preoperative kyphosis Cobb angle was 101.1° (range,72°-145° ).The mean distance from C7 plumb line to middle sacral line was 2.9cm(range,1.5-5.5cm).All cases underwent posterior release and spinal wedge osteotomy,and the touched vertebrae (TV) (defined as the most cephalad vertebrae touched by central sacrum vertical line) were regarded as the lowest instrumented vertebrae(LTV).l case with tethered spinal cord and diastematomyelia underwent tethered spinal cord release plus the above-mentioned procedure. Result: All the patients underwent the operation successfully.An average of 3.0 thoracic vertebra release was performed.The average surgical time was 7.7 hours (5.5-10.0 hours),and the average blood loss was 3500ml(1000-7000ml).There was no neurological deficit.l patient suffered from left pleura tearing during capitulum costae resection complicated with hemopneumothoraxes who was treated by chest cavity closed drainage alone and recovered completely after 2 weeks. 1 patient suffered from screw perforating back skin, that was resolved by taking out the screw 3 months later.Immediately after operation,the mean scoliosis Cobb angle was 28

  6. Use dependent limb dominence and somatosensory evoked potentials (SEPs in the congenitally blind

    Dayananda Giriyappa


    Full Text Available Background and purpose: Vision has been considered as the dominant modality in the human multi-sensory perception of the surroundings. The congenitally blind individuals use cortical areas that are normally reserved for vision during Braille reading. Use-dependent reorganization and neural plasticity changes occur as a consequence of many events, including the normal development and maturation of the organism, the acquisition of new skills. The research was designed to study the effect of blindness on SEPs in the dominant hand (Braille reading hand compared to the non dominant (non Braille reading hand in the congenitally blind. Material and methods: SEPs were recorded in 15 Braille reading congenitally blind females and compared with 15 age matched normal sighted females following right and left index finger stimulation. Latency and amplitudes of SEP waveforms (N9, N13, and N20 were measured. Results: The SEP-N20 amplitude was significantly increased in the congenitally blind (p < 0.0001 for right index finger and p < 0.005 for left index finger. There is a very large effect of blindness (3.11 on right index finger. Conclusions: The congenitally blind individuals have larger N20 amplitude, which is suggestive of greater somatosensory cortical activity. Effect of blindness and Braille reading skills is greater on SEPs recorded from the dominant and preferred hand. A varied contribution from Basic mechanisms in plasticity like neurogenesis, activity-dependent synaptic and neuronal plasticity may be involved.

  7. Congenital dislocation of the hip. A review.

    Sherk, H H; Pasquariello, P S; Watters, W C


    Congenital dislocation of the hip usually results from capsular stretching caused by fetal malposition and crouching late in the third trimester. Early recognition of hip dislocation or instability soon after birth permits prompt treatment. Ortolani's and Barlow's maneuvers, respectively, reduce into and displace from the acetabulum a femoral head that is insecurely contained therein. The diagnosis of CDH in the first month of life usually depends on these clinical components of the physical examination of the newborn, because similar device, in this age group can usually maintain the displaced hip in sufficient flexion and abduction to permit reduction and normal development. By 3 months of age, the nuclei of the pelvis and upper femur have ossified enough to permit radiologic diagnosis of CDH. Problems related to treatment increase as the child grows older. In infants up to 6 months of age, closed methods with a harness usually succeed. Beyond 6 months, the soft tissues shorten and prevent easy reduction. These patients almost always require pre-reduction traction. An adductor tenotomy also facilitates reduction and apparently lessens compressive forces on the femoral head, an important consideration in preventing avascular necrosis of the head. Children over 1 year old develop bony changes, such as excessive femoral valgus and anteversion and deformity of the acetabulum. Treatment in these patients requires realignment of bony deformities with femoral or pelvic osteotomies in addition to the measures noted previously. The gentleness and high success rate of early treatment make early diagnosis of CDH an important consideration in infants and newborns.

  8. Congenital hypothyroidism: current perspectives

    Dayal D


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

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

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


    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

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

    Hisaoka, Masanori; Hashimoto, Hiroshi [Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Ohguri, Takayuki [Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Department of Radiology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Aoki, Takatoshi [Department of Radiology, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan); Okamoto, Sumika; Ishida, Tsuyoshi [Department of Pathology, NTT MC Kanto Medical Center, Tokyo (Japan); Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka [Department of Orthopedic Surgery, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Fukuoka (Japan)


    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.)

  11. Congenital Goitre in Goats

    A. H. Cheema, A. Shakoor and A. H. Shahzad


    Full Text Available One full-term, dead foetus was successfully removed from a 5-year old, crossbred black and white goat. The goat was stall-fed with green fodder and it delivered two dead foetuses in the previous pregnancy. The foetus had a large swelling in the cranio-ventral neck region. Upon cutting skin, the swelling revealed extremely enlarged thyroid gland having two asymmetrical lobes with the right lobe was 8.10 x 15.0 cm and the left 5.5 x 8.6 cm in size. The skin was devoid of hair, pale-white and thickened with myxedema. Histologically, the enlarged thyroid consisted of colloid goitre and the lungs were oedematous. This case of congenital goitre was unusual and differed from the reported cases in two aspects viz 1 the two lobes were enlarged but unequal and 2 histologically goitre was colloid instead of usual hyperplastic type.

  12. Congenital pyriform aperture stenosis

    Osovsky, Micky [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel); Rabin Medical Center, Department of Neonatology, Schneider Children' s Medical Center of Israel, Beilinson Campus, Petah Tikvah (Israel); Aizer-Danon, Anat; Horev, Gadi [Schneider Pediatric Hospital, Department of Pediatric Radiology, Petach Tikvah (Israel); Sirota, Lea [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel)


    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  13. Characterizing congenital amusia.

    Stewart, Lauren


    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  14. Congenital hypothyroidism: Screening dilemma

    Meena P Desai


    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  15. Innovative technique for correction of the congenital lop ear.

    Ho, K; Boorer, C; Khan, U; Deva, A; Chang, L


    Congenital lop ear is a deformity affecting the upper third of the ear. It is characterised by varying degrees of lidding of the helix, reduction in the fossa triangularis, scapha compression, reduction or absence of the superior crus of the antihelix and an associated reduction in vertical height of the external ear. Reported strategies for the surgical correction of this deformity include simple excision of the excess overhanging cartilage, radial cartilage incisions of the helix to reverse its memory, various cartilage grafts from the surrounding ear or rib to strut or fill the defect, and mastoid hitching stitches to reinforce the repair. We present a novel technique using a reversed conchal cartilage graft to strut the deformed antihelix. The memory of the reversed conchal cartilage is used to correct lidding of the superior helix and obviates the need for intrinsic cartilage modification or excision. We have found a good aesthetic and structural result in a patient with bilateral congenital lop ear with 12 months follow up.

  16. Congenital heart defects and medical imaging.

    Gehin, Connie; Ragsdale, Lisa


    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

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

    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

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

    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

  19. Types of Congenital Heart Defects

    ... heart develops. Examples of Simple Congenital Heart Defects Holes in the Heart (Septal Defects) The septum is ... Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG CONTACT US National Institutes of Health ...

  20. Sprengel's Deformity Associated with Musculoskeletal Dysfunctions and Renal Anomalies: A Case Report

    Mohammad Hossein Kariminasab


    Full Text Available Background. Sprengel's deformity is a rare congenital anomaly of the shoulder girdle. The deformity is due to failure of descent of the scapula in intrauterine life. Case Presentation. We report a case of unilateral Sprengel's deformity associated with several other musculoskeletal and renal disorders consisting of absence of pectoralis major, weakness of trapezius and serratus anterior muscles, one kidney agenesis, and severe hydronephrosis of the other kidney in a 7-year-old boy. Conclusion. Sprengel's deformity can be associated with other musculoskeletal abnormalities and it is much more than a cosmetic problem.

  1. [Congenital Adrenal Hyperplasia in Adults].

    Vrbíková, Jana


    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  2. Congenital bronchoesophageal fistula in adults

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


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

  3. Deformations of crystal frameworks

    Borcea, Ciprian S


    We apply our deformation theory of periodic bar-and-joint frameworks to tetrahedral crystal structures. The deformation space is investigated in detail for frameworks modelled on quartz, cristobalite and tridymite.

  4. Deformed General Relativity

    Bojowald, Martin


    Deformed special relativity is embedded in deformed general relativity using the methods of canonical relativity and loop quantum gravity. Phase-space dependent deformations of symmetry algebras then appear, which in some regimes can be rewritten as non-linear Poincare algebras with momentum-dependent deformations of commutators between boosts and time translations. In contrast to deformed special relativity, the deformations are derived for generators with an unambiguous physical role, following from the relationship between canonical constraints of gravity with stress-energy components. The original deformation does not appear in momentum space and does not give rise to non-locality issues or problems with macroscopic objects. Contact with deformed special relativity may help to test loop quantum gravity or restrict its quantization ambiguities.

  5. Hand Hygiene Saves Lives

    Full Text Available ... public health professionals. More > Hand Hygiene Saves Lives (5:10) Recommend on Facebook Tweet Share Compartir Hand ... High resolution [22.9 MB] Open Captioned [14.5 MB] Request a higher resolution file Copy the ...

  6. Hand Hygiene Saves Lives

    Full Text Available ... future Salt Matters: Preserving Choice, Protecting Health More Information Hand Hygiene Clean Hands Basics Send Us Feedback ... 2013 Page last updated: November 22, 2013 Content source: Centers for Disease Control and Prevention Page maintained ...

  7. Hand Hygiene Saves Lives

    Full Text Available ... 22.9 MB] Open Captioned [14.5 MB] Request a higher resolution file Copy the code below ... future Salt Matters: Preserving Choice, Protecting Health More Information Hand Hygiene Clean Hands Basics Send Us Feedback ...

  8. Arthritis of the Hand

    .org Arthritis of the Hand Page ( 1 ) The hand and wrist have multiple small joints that work together to ... a shoelace. When the joints are affected by arthritis, activities of daily living can be difficult. Arthritis ...

  9. Hand Hygiene Saves Lives

    Full Text Available ... Tricky Treats Hygiene Fight Germs. Wash Your Hands! Go with the Flow Hand Hygiene Saves Lives Wash ... Wes Studi: Signs (:30) Traveler’s Health Way to Go Way to Go: Many Healthy Returns (4:00) ...

  10. [Ultrasonographic diagnosis of polyhydramnios and its association with congenital malformations].

    Romero Gutierrez, G; Fuentes Paramo, H; Membrila Alfaro, E; Vargas Huerta, M


    We carried out a prospective study at the Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social, in León, Guanajuato in order to evaluate the association between polyhydramnios and fetal congenital anomalies. 200 women were included, 100 with polyhydramnios and 100 with normal amniotic fluid (control group). The diagnosis of polyhydramnios was made with ultrasound scanning using maximum vertical pocket technique and amniotic fluid index. The patients with polyhydramnios had an average maximum vertical pocket of 9.3 centimeters and amniotic fluid index of 27.0 centimeters. In patients with polyhydramnios 24 cases of congenital malformations were found, and none in patients with normal amniotic fluid (P < 0.01). The most common fetal anomalies were: esophageal atresia (25%), anencephaly (21%) and ductus arteriosus (21%). There were six perinatal deaths in the group of patients with polyhydramnios, five of them had congenital abnormalities, on the other hand in the control group there were no perinatal deaths (P < 0.01). Owing to the signifficative association between polyhydramnios and congenital anomalies, we suggest to reinforce the ultrasound evaluation in order to detect these abnormalities and to offer an early treatment and therefore a better prognosis to the fetus.

  11. [Numerical variants and congenital fusions of carpal bones].

    Senecail, B; Perruez, H; Colin, D


    The number of carpal bones may be increased or decreased by the fact of anatomical variants or true congenital anomalies. Numerical increment arises from additional or from split bones. Over twenty accessory carpal bones have been described but the commonest are the os centrale carpi, the os radiale externum, the triangular bone and the styloideum bone. Additional carpal bones usually result from a failure of fusion of their ossification centers. A congenital origin is not clearly established for all these ossicles. The scaphoid and lunate may split into two or three bones and several cases of bipartite hamulus of the hamatum have been reported. A carpus with only seven bones results from the congenital absence of a normal bone, which mainly affects the scaphoid, lunate and triquetrum, or from a synostosis between two carpal bones, usually the lunate and triquetrum. Congenital fusions originate from an absence of joint cavitation into the embryo and chondrification of the joint interzone. Numerical carpal variants are uncommon as independent entities but occur with a relative high frequency in association with complex malformations of the hand. These anomalies are detectable on plain radiographs of the wrist, but CT-scan and MR-Imaging are useful to differentiate bipartite and accessory bones from carpal fractures or posttraumatic injuries, carpal fusions having to be distinguished from bony ankylosis.

  12. Pectus excavatum, pectus carinatum and other forms of thoracic deformities

    Saxena Amulya


    Full Text Available This review article covers the spectrum of congenital thoracic wall deformities along with their historical background. Willital′s classification divides these deformities into 11 types - funnel chest (4 types, pigeon chest (4 types, and combination of funnel and pigeon chest, chest wall aplasia and cleft sternum. Records of patients at our center comprised 90% depression deformities, 6% protrusion deformities, 3% combined depression-protrusion deformities and 1% other forms. Mild forms of abnormalities warrant the wait- and-watch approach during the first 4-5 years. The deformities manifest primarily during the pubertal spurt often with rapid progression with subjective complaints like dyspnea, cardiac dysthesia, limited work performance and secondary changes. Operative correction in young adults is more favorable in mild cases. The Willital technique has been the standard technique for the correction of pectus excavatum, pectus carinatum and other combined forms of deformities at our center with excellent long term results. The Nuss procedure and the Pectus Less Invasive Extrapleural Repair (PLIER technique for pectus excavatum and pectus carinatum have also been described in this article. Surgical correction for Poland′s syndrome is reserved for patients with severe aplasia of the ribs with major depression deformity. Sternal defects including various types of ectopia cordis are discussed. Even after surgical correction, there is significant reduction in the total capacity and inspiratory vital capacity of the lungs, probably a result of the decreased compliance of the chest wall. However, the efficiency of breathing at maximal exercise improves significantly after operation.

  13. Hands in Systemic Disease

    ... Z Videos Infographics Symptom Picker Anatomy Bones Joints Muscles Nerves Vessels Tendons About Hand Surgery What is a Hand Surgeon? What is ... nerves, skin and skin-related tissues, bones, and ... a systemic diseases. The hands may show changes noticed by the patient or ...

  14. Robotic hand and fingers

    Salisbury, Curt Michael; Dullea, Kevin J.


    Technologies pertaining to a robotic hand are described herein. The robotic hand includes one or more fingers releasably attached to a robotic hand frame. The fingers can abduct and adduct as well as flex and tense. The fingers are releasably attached to the frame by magnets that allow for the fingers to detach from the frame when excess force is applied to the fingers.

  15. Hand Hygiene Saves Lives

    Full Text Available ... Matters: Preserving Choice, Protecting Health (4:30) Salt Matters: Preserving Choice, Protecting Health (2:00) Tricky Treats Hygiene Fight Germs. Wash Your Hands! Go with the Flow Hand Hygiene Saves Lives Wash Your Hands Physical Activity Knees Lifted High Making Health Easier: Active ...

  16. A systematic review of distraction osteogenesis in hand surgery: what are the benefits, complication rates, and duration of treatment?

    Kempton, Steve J; McCarthy, James E; Afifi, Ahmed M


    This work analyzes the utility of distraction osteogenesis as a surgical option for the management of acquired and traumatic hand deformities through a systematic review of the published literature. A PubMed search for articles reporting results of distraction osteogenesis in the hand was performed. Data collected included age, sex, cause, bone distracted, latency period, distraction rate, consolidation period, treatment time, length gained, and complications. Proportion data variables were compared using the chi-square test. A meta-analysis was also performed to assess the size effect of variables on complication development. Thirty articles (424 distractions) met inclusion criteria. The average length gained from distraction was 2.2 cm; the average total treatment time was 116 days; the average complication rate was 26.4 percent. Proportion analysis, including all articles, showed that congenital cause had significantly fewer complications compared with traumatic cause (p = 0.0129). A lower complication rate in pediatric patients compared with adults approached but did not reach significance (p = 0.0507). Studies that underwent meta-analysis, including only articles comparing both variables of interest, were homogeneous (I 0.05 and symmetric funnel plot). None of the variables analyzed by meta-analysis had a significant odds ratio for complication development (p > 0.05). Despite distinct advantages, distraction osteogenesis is associated with a long duration of treatment and high complication rates, particularly in adults and in posttraumatic reconstruction. Therapeutic, IV.




    Full Text Available Development of foetus is a complex chain of events, millions of factors affect it. The rapid decline in the infant mortality & morbidity in the developed countries has focused the attention of pediatricians on the problems of congenital malformations. It is impossible to know all the factors at this juncture. But so far we have come to know some factors responsible for these congenital malformations. A study was done to detect various craniofacial congenital anomalies in Malwa region (M.P. with the aim to know various etiological factors and to emphasize importance of early treatment to prevent disfigurement and functional defects; 120 patients with craniofacial congenital anomalies attending government and private hospitals of the Indore city during the period of 01/06/2009 to 31/12/2010 were taken for the study. These patients were examined for different craniofacial congenital anomalies. A detailed history and examination was carried out to evaluate relationship of sex, religion, socioeconomic status, environmental factors, maternal age, parity, occupation of parents with various craniofacial anomalies. We detected various craniofacial congenital anomalies ranging from cleft lip and palate, ear deformities, macrostoma, nose deformities, ptosis, facial nerve paralysis and vascular malformations. Most common anomaly was cleft lip and palate followed by haemangioma, hairy naevus, ear deformities and ptosis. These anomalies were significantly high in children belonging to low socioeconomic group. Exposure of pregnant mothers to agricultural chemicals and smoking were other significant factors. This study also shows that incidence of cleft lip and palate was relatively high in children who were born to mothers having age less than 20 years.

  18. Reconstruction of a postraumatic radial club hand with a free fibular osteoseptocutaneous flap and Sauve-Kapandji procedure-A case report.

    Horta, Ricardo; Nascimento, Ricardo; Silva, Alvaro; Pinto, Rui; Negrão, Pedro; São-Simão, Ricardo; Carvalho, Jorge; Santos Silva, Marta; Amarante, Jose


    Radial club hand may be congenital or acquired; radial deviation of the hand is usually found, associated with palmar flexion-pronation and treatment of severe forms of radial club hand is often difficult. Here we present a case of reconstruction of a severe postraumatic radial club hand with a free fibular osteoseptocutaneous flap and Sauve-Kapandji procedure in a 28-year-old man. The patient had a radial deviation of the wrist and right upper limb shortening as a result of an infected pseudarthrosis of the radius. This deformity was reconstructed with a free fibular osteoseptocutaneous flap associated to arthrodesis of the distal radioulnar joint and an ulnar resection osteotomy proximal to the arthrodesis in order to restore rotation of the forearm (Sauvé-Kapandji procedure). The flap fully survived and no complications were seen in the early postoperative period at both recipient and donor sites. Radius alignment was restored. At 5-month follow-up, the skeleton was healed. There was minimal osteopenia at the distal radial segment. Wrist extension was 48 degrees, flexion 24 degrees, and pronation-supination was 58-0-48 degrees, with full finger flexion. The patient could hold a 4 kg dumbbell with the elbow flexed without discomfort. His DASH score-Disabilities of the Arm, Shoulder, and Hand Questionnaire was 15.83. Combined free fibular osteoseptocutaneous flap and Sauve-Kapandji procedure may be considered in severe forms of postraumatic radial club hand, however, further data are necessary. © 2016 Wiley Periodicals, Inc. Microsurgery 36:593-597, 2016. © 2016 Wiley Periodicals, Inc.

  19. New Technologies for Surgery of the Congenital Cardiac Defect

    David Kalfa


    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.

  20. [Surgical management of the adult spastic hand].

    Allieu, Y


    The adult spastic hand, of varying causes, but dominated by vascular hemiplegia and brain damage, associates motor disorders and problems of tonus. The variety of forms of brain damage explains the wealth and diversity of the symptoms. These symptoms, often the most serious along with cognitive disorders, justify the expression "central neurological hand". Each case is an individual one. The effect on the hands may be unilateral or bilateral with spasticity involving the fingers/thumb/wrist. The clinical evaluation leading to a decision tree must take into account spasticity, retraction and paralysis, for each muscle. When completed by anesthetic motor blocks, spasticity and/or retraction, damage to extrinsic and/or intrinsic muscles of the fingers may be differentiated. This repeated multidisciplinary evaluation makes it possible to distinguish between "non functional hands", "functional hands" and "potentially functional hands". In the first instance, surgery can only improve the esthetic aspect or facilitate nursing. In the second instance, correcting spasticity may improve function. The treatment of spasticity is based on inhibiting spasticity (by injecting botulinum toxin or surgical motor hyponeurotisation) and reinforcing the non-spastic antagonist muscles via tendon transfer or tenodesis. Surgery is indicated to correct muscular retraction and deformities. The functional indications are highly selective and their limited results only allow a "supporting hand" to be constructed at best. The non-functional indications lead to a codified intervention whose results will greatly improve the management of these patients.

  1. Congenital Diaphragmatic Hernia


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

  2. Congenital parotid fistula

    Shiggaon Natasha


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

  3. Congenital hypothyroidism in neonates

    Aneela Anjum


    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  4. Congenital hyperthyroidism: autopsy report

    Lima Marcus Aurelho de


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

  5. Congenital pulmonary lymphangiectasia

    Campisi Corradino


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

  6. Congenital Short QT Syndrome

    Charles Antzelevitch


    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  7. Congenital Progressive Mutilating Hemangioma

    Anastasiya Chokoeva


    Full Text Available A 73-year-old male patient was admitted with symptoms of decompensated cardiac and pulmonary insufficiency with long-lasting history. A tumor-like formation was observed within the clinical examination, covering the whole skin of the nose, paranasal region of the left part of the face, as well as the upper and lower left eyelids. The lesion was with yellow to brownish surface and dark-reddish to violet discolored peripheral area, composed of nodular formations, smooth central surface and firm texture on palpation. The histopathological examination verified the diagnosis of hemangioma, which had been congenital, regarding the patient’s history, treated surgically about 50 years ago, with signs of recurrence. The presented patient had been treated surgically at the age of 20, without medical evidence of the type of the performed excision. The recurrence occurs almost 50 years later, at the age of 78. To the best of our knowledge, this is the first reported recurrence of infantile hemangioma, treated surgically almost 50 years ago.

  8. [Congenital cataract: general review].

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L


    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  9. [Congenital aortic stenosis].

    Yamaguchi, M


    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  10. Planispheric multiplanar reformatted CT: a new method for evaluation of paediatric congenital spine abnormalities

    Menten, Renaud; Saint-Martin, Christine; Clapuyt, Philippe [Saint Luc University Hospital, Department of Paediatric Radiology, Brussels (Belgium); Mousny, Maryline [Saint Luc University Hospital, Department of Paediatric Orthopaedics, Brussels (Belgium)


    We describe an original reconstruction method for spine CT performed in four patients with single or multiple congenital spine abnormalities. Conventional radiographic imaging is at the forefront of diagnosis and follow-up of congenital scoliosis, but is frequently difficult to interpret. Three-dimensional CT reconstruction facilitates visualization of complex anatomic structures, but does not give a reliable assessment of failures of segmentation. Mental three-dimensional reconstruction of the information displayed by classical multiplanar reformatted CT remains difficult. Planispheric reformatted imaging allows the visualization of all deformities in a single plane. (orig.)

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

    Geoffray, Anne; Leloutre, Beatrice; Albertario, Marco; Bechard-Sevette, Nancy [Fondation Lenval Children' s Hospital, Department of Pediatric Imaging, Nice (France); Clement, Jean-Luc [Fondation Lenval Children' s Hospital, Department of Orthopedic and Spine Surgery, Nice (France)


    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.)

  12. Deformable Nanolaminate Optics

    Olivier, S S; Papavasiliou, A P; Barbee, T W; Miles, R R; Walton, C C; Cohn, M B; Chang, K


    We are developing a new class of deformable optic based on electrostatic actuation of nanolaminate foils. These foils are engineered at the atomic level to provide optimal opto-mechanical properties, including surface quality, strength and stiffness, for a wide range of deformable optics. We are combining these foils, developed at Lawrence Livermore National Laboratory (LLNL), with commercial metal processing techniques to produce prototype deformable optics with aperture sizes up to 10 cm and actuator spacing from 1 mm to 1 cm and with a range of surface deformation designed to be as much as 10 microns. The existing capability for producing nanolaminate foils at LLNL, coupled with the commercial metal processing techniques being used, enable the potential production of these deformable optics with aperture sizes of over 1 m, and much larger deformable optics could potentially be produced by tiling multiple deformable segments. In addition, based on the fabrication processes being used, deformable nanolaminate optics could potentially be produced with areal densities of less than 1 kg per square m for applications in which lightweight deformable optics are desirable, and deformable nanolaminate optics could potentially be fabricated with intrinsically curved surfaces, including aspheric shapes. We will describe the basic principles of these devices, and we will present details of the design, fabrication and characterization of the prototype deformable nanolaminate optics that have been developed to date. We will also discuss the possibilities for future work on scaling these devices to larger sizes and developing both devices with lower areal densities and devices with curved surfaces.

  13. Post septorhinoplasty custom-made unilateral nasal stent for nasal cleft deformity

    Manu Rathee; Mohaneesh Bhoria; Priyanka Boora


    Context: Nasal cleft deformity is a complicated problem. Utilization of nasal stent in post septorhinoplastyaims at establishing and maintaining airway patency, tissue position, and reduces tissue contracture after surgery. Case Report: A 16-year-old female patient presented with history of surgical reconstruction of congenital cleft lip and cleft palate with secondary septorhinoplasty of nasal cleft deformity. Patient was referred for nasal stent 1 week after septorhinoplasty. This case repo...

  14. Hand Injuries and Disorders

    ... the wrist, often making your fingers feel numb Injuries that result in fractures, ruptured ligaments and dislocations ... deformity Tendinitis - irritation of the tendons Disorders and injuries of your fingers and thumb

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

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


    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 targ

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

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


    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

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

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


    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

  18. Genetics Home Reference: congenital dyserythropoietic anemia

    ... 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 ...

  19. Genetics Home Reference: congenital leptin deficiency

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  20. Five Facts about Congenital Heart Defects

    ... Button Past Emails CDC Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Congenital heart defects are the most common types of birth defects. ...

  1. Genetic Counseling for Congenital Heart Defects

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  2. Hand eczema classification

    Diepgen, T L; Andersen, Klaus Ejner; Brandao, F M;


    Summary Background Hand eczema is a long-lasting disease with a high prevalence in the background population. The disease has severe, negative effects on quality of life and sometimes on social status. Epidemiological studies have identified risk factors for onset and prognosis, but treatment...... of the disease is rarely evidence based, and a classification system for different subdiagnoses of hand eczema is not agreed upon. Randomized controlled trials investigating the treatment of hand eczema are called for. For this, as well as for clinical purposes, a generally accepted classification system...... for hand eczema is needed. Objectives The present study attempts to characterize subdiagnoses of hand eczema with respect to basic demographics, medical history and morphology. Methods Clinical data from 416 patients with hand eczema from 10 European patch test clinics were assessed. Results...

  3. Cerebral palsy and congenital malformations

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


    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...

  4. Paternal transmission of congenital myotonic dystrophy.

    Bergoffen, J; Kant, J.; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H


    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counsell...

  5. Hand deburring guide

    Gillespie, L.K.


    Appropriate hand deburring techniques have always been difficult to define because of the infinite variety of part shapes, sizes, materials, and burr conditions. This guide, however, has been prepared to assist those responsible for hand deburring. The purpose of the guide is to define Bendix Kansas City burr specifications and inspection practices; to define the results of practical tests on hand deburring; to define some typical in-house practices; and to define the in-house tools available for this work.

  6. The alien hand syndrome

    Panikkath, Deepa; Mojumder, Deb; Nugent, Kenneth


    A 77-year-old woman presented with the complaint of observing her left hand moving without her knowledge while watching television. Her left hand stroked her face and hair as if somebody was controlling it. These movements lasted only half an hour but on recovery, she had left hemiparesis. Alien hand syndrome as the presentation of cardioembolic stroke is extremely rare but can be terrifying to patients. PMID:24982566

  7. Grasping without sight: insights from the congenitally blind.

    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.


    Anastasia Viktorovna Sarapulova


    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.

  9. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

    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


    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

  10. Hand Hygiene: An Update.

    Bolon, Maureen K


    The medical field has long recognized the importance of hand hygiene in preventing health care-associated infections, yet studies indicate that this important task is performed only 40% of the time. Health care workers cite several barriers to optimal performance of hand hygiene, but the time required to perform this task is foremost among them. Introduction of alcohol-based hand rubs, bundled interventions, and incorporation of technologies designed to monitor and promote hand hygiene all represent promising advances in this field. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. [Optimizing surgical hand disinfection].

    Kampf, G; Kramer, A; Rotter, M; Widmer, A


    For more than 110 years hands of surgeons have been treated before a surgical procedure in order to reduce the bacterial density. The kind and duration of treatment, however, has changed significantly over time. Recent scientific evidence suggests a few changes with the aim to optimize both the efficacy and the dermal tolerance. Aim of this article is the presentation and discussion of new insights in surgical hand disinfection. A hand wash should be performed before the first disinfection of a day, ideally at least 10 min before the beginning of the disinfection as it has been shown that a 1 min hand wash significantly increases skin hydration for up to 10 min. The application time may be as short as 1.5 min depending on the type of hand rub. Hands and forearms should be kept wet with the hand rub for the recommended application time in any case. A specific rub-in procedure according to EN 12791 has been found to be suitable in order to avoid untreated skin areas. The alcohol-based hand rub should have a proven excellent dermal tolerance in order to ensure appropriate compliance. Considering these elements in clinical practice can have a significant impact to optimize the high quality of surgical hand disinfection for prevention of surgical site infections.

  12. Lessons learned from study of congenital hip disease in adults

    Hartofilakidis, George; Lampropoulou-Adamidou, Kalliopi


    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. PMID:28032030

  13. Hereditary congenital unilateral deafness : A new disorder?

    Dikkers, FG; Verheij, JBGM; van Mechelen, M


    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral d

  14. Signs and Symptoms of Congenital Heart Defects

    ... Twitter. What Are the Signs and Symptoms of Congenital Heart Defects? Many congenital heart defects cause few or no signs and symptoms. A ... lips, and fingernails) Fatigue (tiredness) Poor blood circulation Congenital heart defects don't cause chest pain or other painful ...

  15. Care and Treatment for Congenital Heart Defects

    ... Thromboembolism Aortic Aneurysm More Care and Treatment for Congenital Heart Defects Updated:Oct 26,2015 Not all people with ... supports you in your pursuit of heart health. Congenital Heart Defects • Home • About Congenital Heart Defects • The Impact of ...

  16. [Congenital lumbar hernia and bilateral renal agenesis].

    Barrero Candau, R; Garrido Morales, M


    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  17. Schinzel-Giedion syndrome and congenital megacalyces.

    Herman, T E; Sweetser, D A; McAlister, W H; Dowton, S B


    The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

  18. MRI of congenital urethroperineal fistula

    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)


    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.)

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

    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 nor

  20. Congenital syphilis surveillance

    Antonella Marangoni


    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  1. Sprengel's deformity and spinal dysraphism : connecting the shoulder and the spine

    van Aalst, J.; Vles, J. S. H.; Cuppen, I.; Sival, D. A.; Niks, E. H.; Van Rhijn, L. W.; Van Steensel, M. A. M.; Cornips, E. M. J.

    Sprengel's deformity, a rare congenital malformation of the scapula, may be observed in combination with spinal dysraphism. The co-occurrence of these malformations suggests an unknown shared etiology. Therefore, we reviewed the medical records of eight children presenting with both malformations

  2. -Deformed nonlinear maps

    Ramaswamy Jaganathan; Sudeshna Sinha


    Motivated by studies on -deformed physical systems related to quantum group structures, and by the elements of Tsallis statistical mechanics, the concept of -deformed nonlinear maps is introduced. As a specific example, a -deformation procedure is applied to the logistic map. Compared to the canonical logistic map, the resulting family of -logistic maps is shown to have a wider spectrum of interesting behaviours, including the co-existence of attractors – a phenomenon rare in one-dimensional maps.

  3. Alar Rim Deformities.

    Totonchi, Ali; Guyuron, Bahman


    The alar rim plays an important role in nasal harmony. Alar rim flaws are common following the initial rhinoplasty. Classification of the deformities helps with diagnosis and successful surgical correction. Diagnosis of the deformity requires careful observation of the computerized or life-sized photographs. Techniques for treatment of these deformities can easily be learned with attention to detail. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Congenital anomalies in Primorsky region.

    Kiku, P; Voronin, S; Golokhvast, K


    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

  5. [Hand surgery training].

    Moutet, F; Haloua, J P


    Training of the hand surgeon HAND SURGEON A CONCEPT: The hand surgeon is supposed to be in charge of all the hand lesions regarding, skeleton, muscles, tendons, nerves and vessels. He has to be able to insure reparation and coverage of all of them. So he is involved in all the structures, which insure integrity and function of the hand. PURPOSE AND WAYS OF TRAINING: To obtain the asked ability, the hand surgeon training has to be global and sustained by two underlying surgical specialities: orthopedic surgery and plastic and reconstructive surgery. From 2000 after many years of dealings, a Right to the Title in Hand Surgery was born. This Right to the Title wants to be the formal recognition of the specific training of the hand surgeon. For the well-recognized ancient hand surgeons they need to be confirmed by one's peers. Now a day the hand surgeon has to satisfy to this specific training: Passed the complete training and exam of the Orthopedic or Plastic surgery board. Spent at least 6 months as resident in the other underlying specialty. Passed a microsurgery examination. Passed one of the four national Hand Surgery diplomas (DIU/Inter-Universitary Diploma). The examinations have been harmonized. A common formation is delivered regarding hand surgery, the way of examination is the same and the formation is 2 years long. The final exam is presented in front of board of examiners where a teacher of one of the other three national diplomas is present. Spent at least 2 years in a formative hand surgery unit, listed by the French College of Hand Surgeons, as senior surgeon. Those requirements are heavy to assume and need a heavy personal involvement. That seems to be necessary to have an ability level as high as possible. Emergency surgery practice is absolutely necessary in this training. All the 17 university formative hand surgery units listed by the French College of Hand Surgeons are members of the FESUM (European Federation of the Emergency Hand Units

  6. Congenital torticollis in association with craniosynostosis.

    Raco, A; Raimondi, A J; De Ponte, F S; Brunelli, A; Bristot, R; Bottini, D J; Ianetti, G


    The incidence of congenital torticollis in association with plagiocephaly is 1 in 300 newborns, with the torticollis resulting from pathologically sustained contraction of the sternocleidomastoid. Such conditions as facial asymmetries, craniovertebral anomalies, cervical hemivertebra, and mono- or polydysostoses may also be associated with torticollis diagnosed during the neonatal period. With particular reference to synostotic (coronal and/or lambdoidal) plagiocephaly, a clear distinction is made in this paper between posterior neurocranial flattening secondary to the sustained rotation of the skull resulting from torticollis and that seen in synostotic plagiocephaly. The rarity of torticollis with sustained contraction of the sternocleidomastoid muscle relative to the frequency of occipital-parietal flattening in newborn kept in the supine position has not been discussed in the literature and is therefore of clinical importance. In light of the fact that the prognosis and, consequently, the treatment plan vary directly with the presence or absence of synostoses, clinical evaluation also includes cephalometrics, plain skull X-rays, and CT imaging. If the torticollis is associated with neurocranial deformity but synostosis is absent, cervical traction and physiotherapy resolve the symptoms. When, however, the clinical picture is complicated by synostotic plagiocephaly, corrective surgery is necessary, though cervical traction and physiotherapy are essential to provide early and complete cure of the torticollis.

  7. Fluctuations as stochastic deformation

    Kazinski, P. O.


    A notion of stochastic deformation is introduced and the corresponding algebraic deformation procedure is developed. This procedure is analogous to the deformation of an algebra of observables like deformation quantization, but for an imaginary deformation parameter (the Planck constant). This method is demonstrated on diverse relativistic and nonrelativistic models with finite and infinite degrees of freedom. It is shown that under stochastic deformation the model of a nonrelativistic particle interacting with the electromagnetic field on a curved background passes into the stochastic model described by the Fokker-Planck equation with the diffusion tensor being the inverse metric tensor. The first stochastic correction to the Newton equations for this system is found. The Klein-Kramers equation is also derived as the stochastic deformation of a certain classical model. Relativistic generalizations of the Fokker-Planck and Klein-Kramers equations are obtained by applying the procedure of stochastic deformation to appropriate relativistic classical models. The analog of the Fokker-Planck equation associated with the stochastic Lorentz-Dirac equation is derived too. The stochastic deformation of the models of a free scalar field and an electromagnetic field is investigated. It turns out that in the latter case the obtained stochastic model describes a fluctuating electromagnetic field in a transparent medium.

  8. Deformed discrete symmetries

    Arzano, Michele; Kowalski-Glikman, Jerzy


    We construct discrete symmetry transformations for deformed relativistic kinematics based on group valued momenta. We focus on the specific example of κ-deformations of the Poincaré algebra with associated momenta living on (a sub-manifold of) de Sitter space. Our approach relies on the description of quantum states constructed from deformed kinematics and the observable charges associated with them. The results we present provide the first step towards the analysis of experimental bounds on the deformation parameter κ to be derived via precision measurements of discrete symmetries and CPT.

  9. Experience of prevention and treatment of deep burn of hand%手部深度烧伤后畸形防治体会

    邢晓萍; 苏永涛; 牛先明; 吕陟


    @@ INTRODUCTION How to prevent hand deformity caused by burn, restore appearanceand working ability has been alwaya the main problem, the follow-ing is the report about causes of deformity and experience of pre-vention and treatment.

  10. Wash Your Hands

    ... don't have soap and clean, running water? Washing hands with soap and water is the best way to get rid of germs in most situations. If soap and water are not available, use an alcohol-based hand sanitizer [423 KB] that contains at least 60% alcohol. ...

  11. Pneumatically actuated hand tool

    Cool, J.C.; Rijnsaardt, K.A.


    Abstract of NL 9401195 (A) Pneumatically actuated hand tool for carrying out a mechanical operation, provided with an exchangeable gas cartridge in which the gas which is required for pneumatic actuation is stored. More particularly, the hand tool is provided with at least one pneumatic motor, at



    We studied the long-term sequelae of hand injuries as a result of playing volleyball. In a retrospective study, 226 patients with injuries of the hand who were seen over a 5-year period at our Trauma Department, were investigated. Females accounted for 66 % of all injuries. The mean age was 26

  13. Hand measuring eqipment

    De Chiffre, Leonardo

    This note is used in connection with a 3 x 2 hours laboratory exercise as a part of the course GEOMETRICAL METROLOGY AND MACHINE TESTING. The laboratory includes a demonstration of a series of hand measuring tools as well as a number of exercises, illustrating the use of hand measuring equipment...




    We studied the long-term sequelae of hand injuries as a result of playing volleyball. In a retrospective study, 226 patients with injuries of the hand who were seen over a 5-year period at our Trauma Department, were investigated. Females accounted for 66 % of all injuries. The mean age was 26 years

  15. Hand Hygiene: When and How

    ... handrub? How to handwash? RUB HANDS FOR HAND HYGIENE! WASH HANDS WHEN VISIBLY SOILED Duration of the entire procedure: ... from its use. When? YOUR 5 MOMENTS FOR HAND HYGIENE 1 BEFORETOUCHINGA PATIENT 2 B P ECFLOER R ...

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

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


    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.

  17. Oral pathology case: congenital epulides

    Amorim, J.


    A one month-old girl was referred to our department due a neoformation of the mandible. The excisional biopsy of the lesion revealed a congenital epulides of the newborn. This is an uncommon lesion, easy to diagnose, as it has a typical appearance and localisation. Surgical treatment is the option, namely when it impairs feeding, swallowing or breathing.

  18. [Genetics of congenital heart diseases].

    Bonnet, Damien


    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.

  19. Oral pathology case: congenital epulides

    Amorim, J


    A one month-old girl was referred to our department due a neoformation of the mandible. The excisional biopsy of the lesion revealed a congenital epulides of the newborn. This is an uncommon lesion, easy to diagnose, as it has a typical appearance and localisation. Surgical treatment is the option, namely when it impairs feeding, swallowing or breathing.

  20. Prenatal diagnosis of congenital diseases

    M.F. Niermeijer (Martinus)


    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  1. Congenital dacryocystocele: prenatal MRI findings

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


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

  2. Embryology of congenital diaphragmatic hernia.

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


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

  3. Congenital Chagas disease: an update.

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre


    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  4. Congenital Chagas disease: an update

    Yves Carlier


    Full Text Available Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.


    A. A. Mukhamadeev


    Full Text Available There were treated 48 patients (adolescents and adults with severe congenital clubfoot in Saratov Research Institute of Traumatology and Orthopedics. 43 patients had the age ranged from 16 to 30, 5 patients had the age over 30. 19 patients had bilateral clubfoot, 29 patients had unilateral clubfoot including 19 on right side and 10 left side. To improve treatment results and to prevent deformity recurrence we developed two-staged surgery for congenital clubfoot treatment in adults. Cartilages of talo-navicular, talo-calcanean, cuneo-talar joints are deleted and deformity is corrected with external fixator on I stage. Surgeon performs external fixator resetting, autobone grafting of these joints with compressive arthrodesis on second stage. This method results in full foot reconstruction, good functional outcome, full weight-bearing and improves patient life’s quality.

  6. A rare cervical dystonia mimic in adults: congenital muscular torticollis (fibromatosis colli, a follow-up

    Mehmet Can Uluer


    Full Text Available Neglected or undiagnosed congenital muscular torticollis (CMT in adults is quite rare, although it is the third most common congenital deformity in the newborn [1]. When left untreated at an early age, deficits in lateral and rotational range of motion can occur along with irreversible facial and skeletal deformities that develop over time. Subtle cases can go unnoticed until early adulthood, with predominant fibrotic replacement in the sternocleidomastoid (SCM making physical therapy and chemodenervation mostly ineffective. Surgical intervention, in these cases, can prove effective in alleviating pain, improving function and cosmesis [2].We report an update on a previously reported case, misdiagnosed as cervical dystonia, which had undergone partial myectomy of the anterior belly of the SCM with some relief of symptoms but not total resolution after the correct diagnosis of fibromatosis colli [3].

  7. Intracrystalline deformation of calcite

    de Bresser, Hans


    It is well established from observations on natural calcite tectonites that intracrystalline plastic mechanisms are important during the deformation of calcite rocks in nature. In this thesis, new data are presented on fundamental aspects of deformation behaviour of calcite under conditions where 'd

  8. Resurgent deformation quantisation

    Garay, Mauricio, E-mail: [Institut für Mathematik, FB 08 Physik, Mathematik und Informatik, Johannes Gutenberg-Universität, 55099 Mainz (Germany); Goursac, Axel de, E-mail: [Chargé de Recherche au F.R.S.-FNRS, IRMP, Université Catholique de Louvain, Chemin du Cyclotron, 2, B-1348 Louvain-la-Neuve (Belgium); Straten, Duco van, E-mail: [Institut für Mathematik, FB 08 Physik, Mathematik und Informatik, Johannes Gutenberg-Universität, 55099 Mainz (Germany)


    We construct a version of the complex Heisenberg algebra based on the idea of endless analytic continuation. The algebra would be large enough to capture quantum effects that escape ordinary formal deformation quantisation. -- Highlights: •We construct resurgent deformation quantisation. •We give integral formulæ. •We compute examples which show that hypergeometric functions appear naturally in quantum computations.

  9. Congenital tibial dysplasia with lateral bowing and duplication of hallux: case presentations.

    Beck, Jennifer J; Altiok, Haluk


    This article reports on two children with congenital unilateral tibial dysplasia with lateral bowing with no associated sagittal plane deformity. In both cases, it is associated with ipsilateral duplication of the hallux. Long-term follow-up of the patients showed spontaneous, almost complete resolution of the bowing without progressing into fracture or pseudoarthrosis. Leg length discrepancy appeared to be the only orthopedic sequela related to this phenomenon.

  10. Congenital infiltrating lipomatosis of the face with enlargement of the ipsilateral cerebellar hemisphere

    Eric Gous


    Full Text Available Congenital infiltrating lipomatosis of the face (CILF is a rare disorder in which overgrowth of fatty tissue with infiltration of underlying structures leads to craniofacial deformities and asymmetry. Imaging plays an important role in the diagnosis, surgical planning and evaluation of underlying structures. To our knowledge, our case is the first to describe CILF associated with isolated enlargement of a cerebellar hemisphere in the absence of an enlarged ipsilateral cerebral hemisphere (hemimegalencephaly.

  11. Progress and perspective of TBX6 gene in congenital vertebral malformations

    Chen, Weisheng; Liu, Jiaqi; Yuan, Dongtang; Zuo, Yuzhi; Liu, Zhenlei; Liu, Sen; Zhu, Qiankun; Qiu, Guixing; Huang, Shishu; Giampietro, Philip F.; Zhang, Feng; Wu, Nan; Wu, Zhihong


    Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX...

  12. Congenital Malformations of the Inner Ear: Case Series and Review of the Literature.

    Piromchai, Patorn; Kasemsiri, Pornthep; Thanawirattananit, Panida; Yimtae, Kwanchanok


    Patients with craniofacial anomalies often present to doctors due to their noticeable disfigurement and are routinely assessed by otolaryngologists for hearing evaluation. However, small percentage of craniofacial anomaly patients may present with delayed speech though they may not have initial obvious external deformation. The objective of case series is to identify the congenital inner ear malformation. The series of clinical presentation, physical examination, investigations, treatments and follow-up results were demonstrated followed by the discussion.

  13. Deformations of Superconformal Theories

    Cordova, Clay; Intriligator, Kenneth


    We classify possible supersymmetry-preserving relevant, marginal, and irrelevant deformations of unitary superconformal theories in $d \\geq 3$ dimensions. Our method only relies on symmetries and unitarity. Hence, the results are model independent and do not require a Lagrangian description. Two unifying themes emerge: first, many theories admit deformations that reside in multiplets together with conserved currents. Such deformations can lead to modifications of the supersymmetry algebra by central and non-central charges. Second, many theories with a sufficient amount of supersymmetry do not admit relevant or marginal deformations, and some admit neither. The classification is complicated by the fact that short superconformal multiplets display a rich variety of sporadic phenomena, including supersymmetric deformations that reside in the middle of a multiplet. We illustrate our results with examples in diverse dimensions. In particular, we explain how the classification of irrelevant supersymmetric deformat...

  14. Massey products and deformations

    Fuchs, D; Fuchs, Dmitry; Lang, Lynelle


    The classical deformation theory of Lie algebras involves different kinds of Massey products of cohomology classes. Even the condition of extendibility of an infinitesimal deformation to a formal one-parameter deformation of a Lie algebra involves Massey powers of two dimensional cohomology classes which are not powers in the usual definition of Massey products in the cohomology of a differential graded Lie algebra. In the case of deformations with other local bases, one deals with other, more specific Massey products. In the present work a construction of generalized Massey products is given, depending on an arbitrary graded commutative, associative algebra. In terms of these products, the above condition of extendibility is generalized to deformations with arbitrary local bases. Dually, a construction of generalized Massey products on the cohomology of a differential graded commutative associative algebra depends on a nilpotent graded Lie algebra. For example, the classical Massey products correspond to the...

  15. Deformation mechanisms in experimentally deformed Boom Clay

    Desbois, Guillaume; Schuck, Bernhard; Urai, Janos


    Bulk mechanical and transport properties of reference claystones for deep disposal of radioactive waste have been investigated since many years but little is known about microscale deformation mechanisms because accessing the relevant microstructure in these soft, very fine-grained, low permeable and low porous materials remains difficult. Recent development of ion beam polishing methods to prepare high quality damage free surfaces for scanning electron microscope (SEM) is opening new fields of microstructural investigation in claystones towards a better understanding of the deformation behavior transitional between rocks and soils. We present results of Boom Clay deformed in a triaxial cell in a consolidated - undrained test at a confining pressure of 0.375 MPa (i.e. close to natural value), with σ1 perpendicular to the bedding. Experiments stopped at 20 % strain. As a first approximation, the plasticity of the sample can be described by a Mohr-Coulomb type failure envelope with a coefficient of cohesion C = 0.117 MPa and an internal friction angle ϕ = 18.7°. After deformation test, the bulk sample shows a shear zone at an angle of about 35° from the vertical with an offset of about 5 mm. We used the "Lamipeel" method that allows producing a permanent absolutely plane and large size etched micro relief-replica in order to localize and to document the shear zone at the scale of the deformed core. High-resolution imaging of microstructures was mostly done by using the BIB-SEM method on key-regions identified after the "Lamipeel" method. Detailed BIB-SEM investigations of shear zones show the following: the boundaries between the shear zone and the host rock are sharp, clay aggregates and clastic grains are strongly reoriented parallel to the shear direction, and the porosity is significantly reduced in the shear zone and the grain size is smaller in the shear zone than in the host rock but there is no evidence for broken grains. Comparison of microstructures

  16. Hand2 Function in Second Heart Field Progenitors is Essential for Cardiogenesis

    Tsuchihashi, Takatoshi; Maeda, Jun; Shin, Chong; Ivey, Kathryn N.; Black, Brian; Olson, Eric N.; Yamagishi, Hiroyuki; Srivastava, Deepak


    Cardiogenesis involves the contributions of multiple progenitor pools, including mesoderm-derived cardiac progenitors known as the first and second heart fields. Disruption of genetic pathways regulating individual subsets of cardiac progenitors likely underlies many forms of human cardiac malformations. Hand2 is a member of the basic helix loop helix (bHLH) family of transcription factors and is expressed in numerous cell lineages that contribute to the developing heart. However, the early embryonic lethality of Hand2-null mice has precluded lineage-specific study of its function in myocardial progenitors. Here, we generated and used a floxed allele of Hand2 to ablate its expression in specific cardiac cell populations at defined developmental points. We found that Hand2 expression within the mesoderm-derived second heart field progenitors was required for their survival and deletion in this domain recapitulated the complete Hand2-null phenotype. Loss of Hand2 at later stages of development and in restricted domains of the second heart field revealed a spectrum of cardiac anomalies resembling forms of human congenital heart disease. Molecular analyses of Hand2 mutant cells revealed several genes by which Hand2 may influence expansion of the cardiac progenitors. These findings demonstrate that Hand2 is essential for survival of second heart field progenitors and that the graded loss of Hand2 function in this cardiac progenitor pool can cause a spectrum of congenital heart malformation. PMID:21185281

  17. Congenital skull indentation: a case report and review of the literature


    Congenital depressions of the skull are rare in Western countries. The majority relate to obstetric trauma at delivery. We present a case of a congenital depression of a neonate's skull not relating to obstetric trauma. The child had an ovoid indentation behind the right coronal suture in the temperoparietal region. This skull depression was thought to relate to the position of her right hand in utero. We report her management, neuro-imaging and outcome on follow-up. A literature review is gi...

  18. The effect of vertical expandable prosthetic titanium rib on growth in congenital scoliosis

    Mehmet Bulent Balioglu


    Full Text Available Aims: In the treatment of thoracic insufficiency syndrome, the main aim is to maintain spinal and thoracic growth in order to continue respiratory functions. Vertical expandable prosthetic titanium rib (VEPTR device application is a method of choice especially in the congenital cases with a thoracic deformity. In our study, we evaluated the effect of VEPTR on growth in congenital scoliosis. Materials and Methods: Four female patients in whom VEPTR was applied were retrospectively evaluated. Anteroposterior (AP and lateral Cobb angles that were measured preoperatively and during the last control, space available for lung (SAL, T1-S1 and T1-T12 distances, coronal and sagittal balances were compared. Results: Four female patients in whom VEPTR was applied were retrospectively evaluated. AP and lateral Cobb angles that were measured preoperatively and during the last control, SAL, T1-S1, and T1-T12 distances, coronal and sagittal balances were compared. Conclusions: VEPTR may provide a good correction, and we observed a growth in the spine height and SAL following the treatment of congenital deformities. Long-term, multicenter, prospective studies that compare the spinal height, respiratory functions, the severity of the deformity, and the spinal balance are required in order to evaluate the efficacy of VEPTR.

  19. About Hand Surgery

    ... us eat, dress, write, earn a living, create art and do many other activities. To accomplish these ... 2009 American Society for Surgery of the Hand. Definition developed by ASSH Council. Other Links CME Mission ...

  20. Osteoarthritis of the Hand

    ... Therapist? Media Find a Hand Surgeon Home Anatomy Osteoarthritis Email to a friend * required fields From * To * ... for those with osteoarthritis. TREATMENT The Diagnosis of Osteoarthritis When diagnosing osteoarthritis, your doctor will ask you ...

  1. Stiffness in the Hand

    ... include: Arthritis Fractures Dislocations Bad sprains Tendon and muscle injuries Evaluating Hand Stiffness Your doctor will ask when the stiffness ... scan. CAUSES SIGNS AND ... stretching exercises for the joints and muscles to help loosen them. Different types of splints ...

  2. Hand Hygiene Saves Lives

    Full Text Available ... captioning. Videos are prepared for different audiences including, children, parents, and public health professionals. More > Hand Hygiene ... captioning. Videos are prepared for different audiences including, children, parents, and public health professionals. More > File Formats ...

  3. Hand Hygiene Saves Lives

    Full Text Available ... get more than a million infections in the hospital while being treated for something else. The best ... reminding healthcare providers to practice hand hygiene in hospitals and other healthcare facilities. Release Date: 8/4/ ...

  4. Hand Hygiene Saves Lives

    Full Text Available ... To Health (4:17) Vital Signs High Blood Pressure Spanish Diseases & Conditions Hablemos de la Influenza Influenza ... Videos are prepared for different audiences including, children, parents, and public health professionals. More > Hand Hygiene Saves ...

  5. Hand Hygiene Saves Lives

    Full Text Available ... Lives shows how patients can play an active role in reminding healthcare providers to practice hand hygiene ... Director for Communication, Division of News and Electronic Media Email Recommend Tweet YouTube Instagram Listen Watch RSS ...

  6. Hand Hygiene Saves Lives

    Full Text Available ... Please Parents Want To Do What′s Best The Obesity Epidemic Outbreaks CDC: Protecting Americans through Global Health ... captioning. Videos are prepared for different audiences including, children, parents, and public health professionals. More > Hand Hygiene ...

  7. Hand lotion poisoning

    ... lotion or cream can be harmful if swallowed: Dimethicone Mineral oil Paraffins (waxes) Petrolatum Various alcohols Where ... Hand cream poisoning References Caraccio TR, McFee RB. Cosmetics and toilet articles. In: Shannon MW, Borron SW, ...

  8. Second Hand Smoke: Danger

    ... What's this? Submit Button Past Emails Second Hand Smoke: Danger! Recommend on Facebook Tweet Share Compartir Make ... the United States are still exposed to secondhand smoke, even though cigarette smoking rates are dropping and ...

  9. Mind the hand

    Davidsen, Jacob; Christiansen, Ellen Tove


    , to construct and problem solve, and to show and imitate. The analyses show how a space emerges from the interaction between the children and the touchscreen, and how their hand movements reveal intelligence-as-action. Three situations with three different pairs were analysed to explore how children use......Apart from touching the screen, what is the role of the hands for children collaborating around touchscreens? Based on embodied and multimodal interaction analysis of 8- and 9-year old pairs collaborating around touchscreens, we conclude that children use their hands to constrain and control access...... their hands in activities around touchscreens, focusing in particular on how they collaborate. The analysis presented here is part of a research study on the use of touchscreens in children’s embodied and multimodal collaborative learning activities in their everyday classrooms. The general aim of the study...

  10. Hand Hygiene Saves Lives

    Full Text Available ... Thinking The Value of Systems Thinking (10:09) Systems Mapping: The Basics ... how patients can play an active role in reminding healthcare providers to practice hand hygiene in hospitals and ...

  11. Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin


    The Smith-Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome.This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases.The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction.Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation.

  12. Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification.

    Ekblom, Anna Gerber; Laurell, Tobias; Arner, Marianne


    To investigate the epidemiology of congenital upper limb anomalies (CULA) based on the newly proposed Oberg, Manske, and Tonkin (OMT) classification, to compare this classification with the International Federation of Societies for Surgery of the Hand (IFSSH) classification, and to provide incidence rates of the different CULA. In this study, the same 562 individuals with a CULA who were analyzed in a previous epidemiologic study based on the IFSSH classification were reclassified according to the OMT classification. All children identified with CULA and born in Stockholm County between January 1, 1997 and December 31, 2007 were included in the study. During the period there were 261,914 live births in Stockholm County, and the population of Stockholm County was 1,949,516 inhabitants at the end of the period. From medical records and available radiographs, all cases were analyzed regarding type of CULA, sex, affected side, associated nonhand anomalies, and occurrence among relatives. Individuals with right and left side anomalies belonging to different OMT subgroups were counted as 2 anomalies; thus, the material consisted of 577 CULA in 562 children. It was possible to organize all CULA into the OMT classification. The largest main category was malformations (429 cases), followed by deformations (124 cases), dysplasias (10 cases), and syndromes (14 cases). We present the relation between the IFSSH and OMT classifications, elucidate difficulties within the OMT classification, and propose additions to the classification. This study confirms that the OMT classification is useful and accurate, but also points out difficulties. With further refinements, we regard the OMT classification as a needed and appropriate replacement for the IFSSH classification. Diagnostic III. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  13. The Spherical Deformation Model

    Hobolth, Asgar


    Miller et al. (1994) describe a model for representing spatial objects with no obvious landmarks. Each object is represented by a global translation and a normal deformation of a sphere. The normal deformation is defined via the orthonormal spherical-harmonic basis. In this paper we analyse...... the spherical deformation model in detail and describe how it may be used to summarize the shape of star-shaped three-dimensional objects with few parameters. It is of interest to make statistical inference about the three-dimensional shape parameters from continuous observations of the surface and from...

  14. Calcaneo-valgus deformity.

    Evans, D


    A discussion of the essential deformity in calcaneo-valgus feet develops a theme originally put forward in 1961 on the relapsed club foot (Evans 1961). Whereas in the normal foot the medial and lateral columns are about equal in length, in talipes equino-varus the lateral column is longer and in calcaneo-valgus shorter than the medial column. The suggestion is that in the treatment of both deformities the length of the columns be made equal. A method is described of treating calcaneo-valgus deformity by inserting cortical bone grafts taken from the tibia to elongate the anterior end of the calcaneus.

  15. Congenital absence of uterine cervix

    Selvaraj Ravi Lakshmy


    Full Text Available Cervical agenesis or dysgenesis is an extremely rare congenital anomaly. Patients with congenital absence of the cervix present with primary amenorrhea and infertility. Though it poses a diagnostic challenge to the clinician, correct diagnosis prior to surgery is possible with the help of ultrasound. Early diagnosis offers significant advantages in patient care and effective presurgical planning. This case report reviews two cases of cervical agenesis diagnosed with the help of ultrasound and later confirmed with the help of MRI. Ultrasonography is the modality of choice to define the internal genital anatomy and helps us to classify the level of obstruction or aplasia in obstructive uterine anomalies. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3634-3636

  16. Congenital myotonia in related kittens.

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


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

  17. [Radiological evaluation of congenital tumors].

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


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

  18. Congenital syphilis: The continuing scourge.

    Agrawal, Prachi G; Joshi, Rajesh; Kharkar, Vidya D; Bhaskar, M V


    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy.

  19. Congenital Absence of the Pericardium.

    Lopez, David; Asher, Craig R

    Congenital absence of the pericardium (CAP) is one of the rarest cardiac congenital anomalies. It can occur as a complete absence of the entire pericardium, absence of the right or left portion of the pericardium or a partial, foramen-like defect of the right or left pericardium. While the majority of cases are clinically silent, multiple reports associate CAP with symptomatic presentation. The most feared complication of CAP is sudden death due to cardiac strangulation across a partial defect of the left pericardium. Given its rare occurrence, most clinicians and imaging specialists will have little experience with this condition and may fail to recognize it on thoracic or cardiac studies. Thus, the purpose of this review is to highlight the common clinical and multimodality imaging features associated with this anomaly and suggest a management algorithm. Copyright © 2016. Published by Elsevier Inc.

  20. Prenatal education for congenital toxoplasmosis.

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


    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

  1. [Congenital ranula in a newborn].

    Bernhard, M K; Hückel, D; Hamala, D


    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  2. Hands of early primates.

    Boyer, Doug M; Yapuncich, Gabriel S; Chester, Stephen G B; Bloch, Jonathan I; Godinot, Marc


    Questions surrounding the origin and early evolution of primates continue to be the subject of debate. Though anatomy of the skull and inferred dietary shifts are often the focus, detailed studies of postcrania and inferred locomotor capabilities can also provide crucial data that advance understanding of transitions in early primate evolution. In particular, the hand skeleton includes characteristics thought to reflect foraging, locomotion, and posture. Here we review what is known about the early evolution of primate hands from a comparative perspective that incorporates data from the fossil record. Additionally, we provide new comparative data and documentation of skeletal morphology for Paleogene plesiadapiforms, notharctines, cercamoniines, adapines, and omomyiforms. Finally, we discuss implications of these data for understanding locomotor transitions during the origin and early evolutionary history of primates. Known plesiadapiform species cannot be differentiated from extant primates based on either intrinsic hand proportions or hand-to-body size proportions. Nonetheless, the presence of claws and a different metacarpophalangeal [corrected] joint form in plesiadapiforms indicate different grasping mechanics. Notharctines and cercamoniines have intrinsic hand proportions with extremely elongated proximal phalanges and digit rays relative to metacarpals, resembling tarsiers and galagos. But their hand-to-body size proportions are typical of many extant primates (unlike those of tarsiers, and possibly Teilhardina, which have extremely large hands). Non-adapine adapiforms and omomyids exhibit additional carpal features suggesting more limited dorsiflexion, greater ulnar deviation, and a more habitually divergent pollex than observed plesiadapiforms. Together, features differentiating adapiforms and omomyiforms from plesiadapiforms indicate increased reliance on vertical prehensile-clinging and grasp-leaping, possibly in combination with predatory behaviors in

  3. Congenital hypopituitarism and renal failure

    Gaurav Atreja


    Full Text Available Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly. He developed renal failure due to initial cardiovascular compromise related to hypotension but recovered quickly with standard management. Magnetic resonance imaging revealed absent stalk of anterior pituitary.

  4. Congenital deficiency of factor VII.

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S


    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  5. Laboratory Diagnosis of Congenital Toxoplasmosis


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

  6. Clinicobacteriological Significance in Congenital Dacryocystitis

    Bhavna Raina, Sudhir Bhagotra


    Full Text Available In the present study, 37 eyes of 30 congenital dacryocystitis patients (7 bilateral were studied, out ofwhich 60% of patients were male and 40% female. Gram positive cocci constituted the major bacterialisolate (56.7% with Streptococcus pneumoniae (27.9% predominating. Most effective antibiotics againstthe commonest organism Streptococcus pneumoniae were Tobramycin and Gentamycin showing 100%effectivity. Staphylococcus albus 17.4% was the most common normal conjunctival commensal isolated.


    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari,Miguel; Prado, José Carlos Lopes; Santili, Cláudio


    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with ac...

  8. MRI multiplanar reconstruction in the assessment of congenital talipes equinovarus

    Wang Chen [Department of Diagnostic Radiology, Uppsala University Hospital, Uppsala (Sweden)]|[Department of Diagnostic Radiology, Uppsala Univ. (Sweden); Petursdottir, S.; Rehnberg, L. [Department of Orthopaedics, Uppsala University Hospital, Uppsala (Sweden); Leifsdottir, I. [Department of Diagnostic Radiology, Uppsala University Hospital, Uppsala (Sweden); Ahlstroem, H.


    Background. Magnetic resonance imaging (MRI) has been shown to be a useful tool in the evaluation of the complex deformities which are present in congenital talipes equinovarus (clubfoot). Objective. To evaluate MRI with the multiplanar reconstruction (MPR) technique as a new method for assessment of clubfoot. Materials and methods. Seven infants with 11 clubfeet were studied by using three-dimensional gradient-echo MR sequences. MPR was performed from the acquired image data in orthogonal, single and double oblique planes to demonstrate the complex deformities in clubfoot. Three angles (talar body-neck angle, talocalcaneal left-right angle and the talocalcaneal superior-inferior angle) were defined for measuring the medial angulation of the talar neck and the rotation of the calcaneus in relation to the talus. Results. The method clearly demonstrated the pathological anatomy of the clubfeet, especially the talonavicular articulations. Dislocation of the navicular bone was observed in 9 of the 11 feet. The angle measurements were easily conducted with MPR, and these angles differed considerably among the patients. Conclusions. The information provided by this method is useful for classification of the severity of clubfoot deformities. (orig.) With 5 figs., 1 tab., 16 refs.

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

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


    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.




    Full Text Available INTRODUCTION: Idiopathic congenital talipes equinovarus (CTEV, a congenital deformity that has plagued the medical profession and society before the days of Hippocrates. Most of the orthopedic surgeons are now of the opinion that the initial treatment of clubfoot should be non-operative. Many different method of non- surgical treatment are being used with reported success rate from 15 to 90%. Sir Ignatio Ponseti a leading advocate of conservative treatment of clubfoot by serial casting achieves excellent result if instituted early. The present study, therefore, has been undertaken to determine the treatment outcomes of patients treated with ponseti casting technique and establish if results produced by ponseti method is reproducible. AIMS OF STUDY: 1. To study and evaluate the Ponseti method of treatment of congenital talipes equinovarus. 2. To obtain a painless, plantigrade, pliable, cosmetically and functionally acceptable foot. MATERIALS AND METHODS: The study was conducted in the Department of Orthopedics, Hindu rao hospitals between July2009 to nov2010. A total of 30 feet of 25 patients were included in the study between the age of 1week to 6 months. INCLUSION CRITERIA Children with virgin idiopathic clubfoot in the age group of 1week to 6 months. EXCLUSION CRITERIA: a. Secondary clubfoot. b. Those that has already treated by other than Ponseti method. c. children with age 6 months. Clinical assessment Quantification of various components of clubfoot deformity using the Pirani score. RESULTS: In the present study with 25 patients with 30 feet, total duration of our study was 16 months. With average follow up of 11 months. ranges from 6 to 15months, 1 patient with bilateral clubfoot lost in follow up, 4 were shifted to surgical treatment the cause being, severe deformity and noncompliance to conservative technique. Of the remaining 20 patient with 24 feet where treated by ponseti method and the clinical results were assessed and compared

  11. Syndromes with congenital brittle bones

    Plotkin Horacio


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

  12. Congenital Portosystemic Shunt: Our Experience

    Tiziana Timpanaro


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

  13. Hand Models Emerge in China



    CHINESE women have now discovered that beautiful hands are realizable assets. A new career invites those with shapely hands: that of hand model. This nascent profession has great prospects, as images involving hands are essential in the advertising business for promotion of such products as jewelry, watches and cell phones. Certain film stars also employ standins for hand close-ups.

  14. Congenital Zika syndrome with arthrogryposis: retrospective case series study

    Filho, Epitacio Leite Rolim; Lins, Otavio Gomes; Aragão, Maria de Fátima Viana Vasco; Brainer-Lima, Alessandra Mertens; Cruz, Danielle Di Cavalcanti Sousa; Rocha, Maria Angela Wanderley; Sobral da Silva, Paula Fabiana; Carvalho, Maria Durce Costa Gomes; do Amaral, Fernando José; Gomes, Joelma Arruda; Ribeiro de Medeiros, Igor Colaço; Ventura, Camila V; Ramos, Regina Coeli


    Objective To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. Design Retrospective case series study. Setting Association for Assistance of Disabled Children, Pernambuco state, Brazil. Participants Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. Main outcome measures Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. Results The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. Conclusions Congenital Zika syndrome should be added to the differential diagnosis of congenital

  15. Major congenital anomalies in a Danish region

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


    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......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......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  16. Hand eczema: An update

    Chembolli Lakshmi


    Full Text Available Eczema, the commonest disorders afflicting the hands, is also the commonest occupational skin disease (OSD. In the dermatology outpatient departments, only the severe cases are diagnosed since patients rarely report with early hand dermatitis. Mild forms are picked up only during occupational screening. Hand eczema (HE can evolve into a chronic condition with persistent disease even after avoiding contact with the incriminated allergen / irritant. The important risk factors for hand eczema are atopy (especially the presence of dermatitis, wet work, and contact allergy. The higher prevalence in women as compared to men in most studies is related to environmental factors and is mainly applicable to younger women in their twenties. Preventive measures play a very important role in therapy as they enable the affected individuals to retain their employment and livelihood. This article reviews established preventive and therapeutic options and newer drugs like alitretinoin in hand eczema with a mention on the etiology and morphology. Identifying the etiological factors is of paramount importance as avoiding or minimizing these factors play an important role in treatment.

  17. Extremely deformable structures


    Recently, a new research stimulus has derived from the observation that soft structures, such as biological systems, but also rubber and gel, may work in a post critical regime, where elastic elements are subject to extreme deformations, though still exhibiting excellent mechanical performances. This is the realm of ‘extreme mechanics’, to which this book is addressed. The possibility of exploiting highly deformable structures opens new and unexpected technological possibilities. In particular, the challenge is the design of deformable and bi-stable mechanisms which can reach superior mechanical performances and can have a strong impact on several high-tech applications, including stretchable electronics, nanotube serpentines, deployable structures for aerospace engineering, cable deployment in the ocean, but also sensors and flexible actuators and vibration absorbers. Readers are introduced to a variety of interrelated topics involving the mechanics of extremely deformable structures, with emphasis on ...

  18. Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine.

    van Aalst, J; Vles, J S H; Cuppen, I; Sival, D A; Niks, E H; Van Rhijn, L W; Van Steensel, M A M; Cornips, E M J


    Sprengel's deformity, a rare congenital malformation of the scapula, may be observed in combination with spinal dysraphism. The co-occurrence of these malformations suggests an unknown shared etiology. Therefore, we reviewed the medical records of eight children presenting with both malformations and performed a review of the literature. Databases from four university medical centers were searched for children presenting between 1992 and 2012 with spinal dysraphism and a Sprengel's deformity. The combination of spinal dysraphism and Sprengel's deformity is rare, and is associated with segmentation defects of the spine and ribs. Although the etiology of both spinal dysraphism and Sprengel's deformity remains unclear, all deformities of the spine, ribs, and shoulder might result from a common genetic defect affecting somitogenesis.

  19. Recent advancements in prosthetic hand technology.

    Saikia, Angana; Mazumdar, Sushmi; Sahai, Nitin; Paul, Sudip; Bhatia, Dinesh; Verma, Suresh; Rohilla, Punit Kumar


    Recently, significant advances over the past decade have been made in robotics, artificial intelligence and other cognitive related fields, allowing development of highly sophisticated bio-mimetic robotics systems. In addition, enormous number of robots have been designed and assembled by explicitly realising their biological oriented behaviours. To enhance skill behaviours and adequate grasping abilities in these devices, a new phase of dexterous hands has been developed recently with bio-mimetically oriented and bio-inspired functionalities. The aim in writing this review paper is to present a detailed insight towards the development of the bio-mimetic based dexterous robotic multi-fingered artificial hand. An "ideal" upper limb prosthesis should be perceived as a part of their natural body by the amputee and should replicate sensory-motor capabilities of the amputated limb. Upper-limb amputations are most often the result of sudden trauma to the body, although they also can be caused by malignancy, congenital deficiencies and vascular diseases. This paper discusses the different bio-mimetic approaches using a framework that permits for a common description of biological and technical based hand manipulation behaviour. In particular, the review focuses on a number of developments in the inspired robotic systems. In conclusion, the study found that a huge amount of research efforts in terms of kinematics, dynamics, modelling and control methodologies are being put in to improve the present hand technology, thereby providing more functionality to the prosthetic limb of the amputee. This would improve their quality-of-life and help in performing activities of daily living (ADL) tasks with comparative ease in the near future.

  20. Pain hypersensitivity in congenital blindness is associated with faster central processing of C-fibre input

    Slimani, H.; Plaghki, L.; Ptito, M.


    Background We have recently shown that visual deprivation from birth exacerbates responses to painful thermal stimuli. However, the mechanisms underlying pain hypersensitivity in congenital blindness are unclear. Methods To study the contribution of Aδ- and C-fibres in pain perception, we measured...... thresholds and response times to selective C- and Aδ-fibre activation in congenitally blind, late blind and normally sighted participants. Ultrafast constant-temperature heat pulses were delivered to the hand with a CO2 laser using an interleaved adaptive double staircase procedure. Participants were...... instructed to respond as quickly as possible when detecting a laser-induced sensation. We used a 650 ms cut-off criterion to distinguish fast Aδ- from slow C-fibre–mediated sensations. Results Congenitally blind participants showed significantly faster reaction times to C- but not to Aδ...

  1. Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis

    Korenburg, J.R. (University of California, Los Angeles (United States)); Bradley, C.; Disteche, C.M. (University of Washington, Seattle (United States))


    Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, and increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. The authors now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an 'overlap' region for the facial and some of the skeletal features. They report the clinical, cytogenetic, and molecular analysis of two patients. These studies provide the molecular basis for the construction of a DS phenotypic map and focus the search for genes responsible for the physical features, congenital heart disease, and duodenal stenosis of DS.

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

    Nabati, Maryam; Bagheri, Babak; Habibi, Valiolla


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

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

    Gholamhossein Ghaffarpour


    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.

  4. Deformations of singularities

    Stevens, Jan


    These notes deal with deformation theory of complex analytic singularities and related objects. The first part treats general theory. The central notion is that of versal deformation in several variants. The theory is developed both in an abstract way and in a concrete way suitable for computations. The second part deals with more specific problems, specially on curves and surfaces. Smoothings of singularities are the main concern. Examples are spread throughout the text.

  5. Diffeomorphic Statistical Deformation Models

    Hansen, Michael Sass; Hansen, Mads/Fogtman; Larsen, Rasmus


    In this paper we present a new method for constructing diffeomorphic statistical deformation models in arbitrary dimensional images with a nonlinear generative model and a linear parameter space. Our deformation model is a modified version of the diffeomorphic model introduced by Cootes et al. Th...... with ground truth in form of manual expert annotations, and compared to Cootes's model. We anticipate applications in unconstrained diffeomorphic synthesis of images, e.g. for tracking, segmentation, registration or classification purposes....

  6. Deformation in nanocrystalline metals

    Helena Van Swygenhoven; Julia R. Weertman


    It is now possible to synthesize polycrystalline metals made up of grains that average less than 100 nm in size. Such nanocrystalline metals contain a significant volume fraction of interfacial regions separated by nearly perfect crystals. The small sizes involved limit the conventional operation of dislocation sources and thus a fundamental question arises: how do these materials deform plastically? We review the current views on deformation mechanisms in nanocrystalline, face-centered cubic...

  7. Congenital pseudoarthrosis associated with venous malformation

    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)


    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.)

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

    Munteanu, M


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

  9. Congenital Pseudoarthrosis of the Tibia: Case Reports

    Mehmet Bulut


    Full Text Available Congenital pseudoarthrosis of the tibia is rarely seen disease which is very difficult to treat. Congenital pseudoarthrosis of the tibia is frequently seen together with neurofibromatosis. Especially according to Boyd classification, type II and V are in the high risk group. In this study, we presented the treatment result of the three years old male patient with type V congenital pseudoarthrosis of the tibia.

  10. Post-surgical dentofacial deformities and dental treatment needs in cleft-lip-palate children: A clinical study

    V Krishna Priya; J Sharada Reddy; Ramakrishna, Y.; C Pujita Reddy


    Background: Cleft lip and palate is a common congenital defect. It is one of the most common facial deformities occurring in major racial and ethnic groups. Aims: The aim of the present study was to record the post-surgical dentofacial deformities in operated cleft lip and palate children, as well as to assess the multitude and magnitude of their dental and other related problems so as to formulate an appropriate treatment plan for complete oral rehabilitation of these children. Materials and...

  11. Development and Congenital Anomalies of the Pancreas

    Hiroyuki Tadokoro


    Full Text Available Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryogenesis. There are many theories in the etiology of congenital anomalies of the pancreas. We review pancreas development in humans and other vertebrates. In addition, we attempt to clarify how developmental failure is related to congenital pancreatic anomalies.

  12. History of the Congenital Heart Surgeons' Society.

    Mavroudis, Constantine; Williams, William G


    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society. © The Author(s) 2015.

  13. Congenital pseudoarthrosis of the clavicle with bifurcation

    Narender Kumar Magu


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

  14. Three-Fingered Robot Hand

    Ruoff, C. F.; Salisbury, J. K.


    Mechanical joints and tendons resemble human hand. Robot hand has three "human-like" fingers. "Thumb" at top. Rounded tips of fingers covered with resilient material provides high friction for griping. Hand potential as prosthesis for humans.

  15. Challenges Faced by Parents of Children with Congenital Heart Disease

    ... Challenges Faced by Parents of Children with Congenital Heart Disease Page Content ​​​The first thing most parents want ... common and expected. About Congenital Heart Defects Congenital Heart Disease (CHD) is the most common type of birth ...

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

    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.


    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

  17. Comparison of surgical hand scrub and alcohol surgical hand rub on reducing hand microbial burden.

    Ghorbani, Azam; Shahrokhi, Akram; Soltani, Zahra; Molapour, Azam; Shafikhani, Mahin


    This study was performed to compare the effects of two hand decontamination methods on the microbial burden of operating room staff hands. The surgical hand washing methods compared were a traditional surgical hand scrub using a povidone iodine solution, and a social wash using a liquid non-antibacterial soap followed by the application of an alcoholic hand rub.

  18. Congenital Ocular Dystopia from Orbitofrontal Bone Dysplasia.

    Swanson, Jordan W; Bartlett, Scott P


    Several patients with ocular dystopia and craniofacial differences have been found to have orbital dysplasia and a frontal bone defect. This deformity is characteristically different from differential diagnoses of encephalocele, sphenoid dysplasia, craniofacial dysostoses, or atypical clefting. The authors retrospectively reviewed the craniofacial registries of two pediatric centers for patients presenting with ocular dystopia or orbitofrontal anomalies between 2000 and 2014. The features and treatment of these patients were analyzed. Four patients with congenital orbitofrontal bone dysplasia were identified, three with unilateral and one with bilateral frontal bone defects. Clinical signs of hypoglobus and vertical ocular dystopia of an average of 5.0 mm on the affected side were noted shortly after birth. The transversely oriented bony defect had an average surface area of 3.9 cm in unilateral cases and 10.7 cm in bilateral cases. Patients showed a characteristic orbital vertical elongation with an average orbital height-to-width ratio of 1.30-in excess of the average normal 1.14 by 14 percent-and inferior rim displacement. Cranial contour demonstrated frontal bossing and borderline dolichocephaly. Fronto-orbital reconstruction was performed in three patients, using cranial bone grafting to obliterate the orbital roof defect and elevate the orbital floor, which was successful in reducing ocular dystopia and preserving vision in each patient. One patient followed for 11 years postoperatively has a durable result with no surgical revision. Orbitofrontal bone dysplasia has not been previously reported, and includes a frontal bone defect and ocular dystopia. Single-stage fronto-orbital reconstruction appears to adequately correct it. Therapeutic, IV.

  19. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule


    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  20. Wash Your Hands


    This video shows kids how to properly wash their hands, one of the most important steps we can take to avoid getting sick and spreading germs to others.  Created: 3/8/2010 by Centers for Disease Control and Prevention (CDC).   Date Released: 3/8/2010.

  1. Hand Hygiene Saves Lives

    Full Text Available ... practice hand hygiene in hospitals and other healthcare facilities. Release Date: 8/4/2010 Source: Healthcare-associated ... choose "Save target as…", save file in desired location. Firefox/Chrome: Right-click on the link, choose " ...

  2. Hand Hygiene Saves Lives

    Full Text Available ... CDC-TV videos cover a variety of health, safety and preparedness topics and include closed-captioning. Videos are prepared for different audiences including, children, parents, and public health professionals. More > Hand Hygiene Saves Lives (5:10) Recommend on Facebook Tweet ...

  3. De hand van Huizinga

    Huizinga, Johan


    De hand van Huizinga bevat een nieuwe selectie van de belangrijkste essays uit het omvangrijke oeuvre van de wereldberoemde Nederlandse historicus Johan Huizinga. Deze essays en studies zijn geselecteerd op basis van de diverse disciplines waarmee Huizinga zich bezighield - van de Middeleeuwen tot

  4. Shanghai Hand Puppet Tcoupe


    PUPPETRY n ancient artform, has had difficulties ca-tering to children’s aesthet-ic needs and perceptions.ShanghaiHand Puppet Troupe has,however,successfully reached children audi-ences with its new science fictlonpiece,Nuozha Meets the Inhabitants of Tai star.

  5. Hands-On Hydrology

    Mathews, Catherine E.; Monroe, Louise Nelson


    A professional school and university collaboration enables elementary students and their teachers to explore hydrology concepts and realize the beneficial functions of wetlands. Hands-on experiences involve young students in determining water quality at field sites after laying the groundwork with activities related to the hydrologic cycle,…

  6. Passive hand prostheses.

    Soltanian, Hooman; de Bese, Genevieve; Beasley, Robert W


    For many mangled hands, appropriately designed passive prostheses now available, alone or in conjunction with surgical reconstruction, can offer the best available improvement, provided they are of high quality and backed by prompt and reliable after-delivery services. Invariably, there is improvement in physical capability along with restoration of good social presentation.

  7. Put Your Hands Together


    In this podcast, learn how to help stop the spread of infection and stay healthy. It's easy when you 'Put Your Hands Together.'.  Created: 3/24/2011 by National Center for Preparedness, Detection, and Control of Infectious Diseases (NCPDCID) and National Center for Zoonotic, Vector-Borne, and Enteric Diseases (NCZVED).   Date Released: 3/24/2011.

  8. Man and his hand

    J.C.H.M. van der Meulen (Jacques)


    textabstractIntroduction: In a world where mechanisation and automation have led to a devaluation of skilled manual work, and where only certain press and publicity media doubt the superiority of the mind, the following operating-theatre dialogue is refreshing: Surgeon: The surgeon's hands are his f

  9. Hands-On Hydrology

    Mathews, Catherine E.; Monroe, Louise Nelson


    A professional school and university collaboration enables elementary students and their teachers to explore hydrology concepts and realize the beneficial functions of wetlands. Hands-on experiences involve young students in determining water quality at field sites after laying the groundwork with activities related to the hydrologic cycle,…

  10. Rotationally Actuated Prosthetic Hand

    Norton, William E.; Belcher, Jewell G., Jr.; Carden, James R.; Vest, Thomas W.


    Prosthetic hand attached to end of remaining part of forearm and to upper arm just above elbow. Pincerlike fingers pushed apart to degree depending on rotation of forearm. Simpler in design, simpler to operate, weighs less, and takes up less space.

  11. Deformation quantization of principal bundles

    Aschieri, Paolo


    We outline how Drinfeld twist deformation techniques can be applied to the deformation quantization of principal bundles into noncommutative principal bundles, and more in general to the deformation of Hopf-Galois extensions. First we twist deform the structure group in a quantum group, and this leads to a deformation of the fibers of the principal bundle. Next we twist deform a subgroup of the group of authomorphisms of the principal bundle, and this leads to a noncommutative base space. Considering both deformations we obtain noncommutative principal bundles with noncommutative fiber and base space as well.

  12. Congenital defects of pericardium: case reports and review of literature.

    Cuccuini, Matteo; Lisi, Francesca; Consoli, Arturo; Mancini, Sara; Bellino, Valentina; Galanti, Giorgio; Capaccioli, Leonardo


    Pericardial defects are a rare condition, generally asymptomatic, due to failure in development of pericardial sac. They are difficult to detect, particularly the complete absence of the pericardium. At present magnetic resonance imaging (MRI) is considered the best performing exam and it could be the first choice in the diagnosis of agenesia of the pericardium. A comprehensive review of dedicated books and PubMed literature was performed and three clinical cases have been analyzed. We report three cases, one with partial and two with total agenesia of the left pericardium, seen at our Institute and diagnosed at MRI as unexpected findings. The diagnosis of a congenital defect of the pericardium is challenging, even for expert radiologists, because this kind of deformity does not provide specific clinical nor conventional radiology findings. Nowadays, the most effective instrument for a certain diagnosis is MRI, interlocked with electrocardiography.

  13. Congenital quadricuspid aortic valve: analysis of 11 surgical cases

    TANG Yang-feng; XU Ji-bin; HAN Lin; LU Fang-lin; LANG Xi-long; SONG Zhi-gang; XU Zhi-yun


    Background Congenital quadricuspid aortic valve is rarely seen during aortic valve replacement (AVR).The diagnosis and treatment of the disease were reported in 11 cases.Methods Eleven patients (nine men and two women,mean age 33.4 years) with quadricuspid aortic valve were retrospectively evaluated.Medical records,echocardiograms and surgical treatment were reviewed.Results In accordance with the Hurwitz and Roberts classification,the patients were classified as type A (n=2),type B (n=7),type F (n=1) and type G (n=1).Three patients were associated with other heart diseases,including infective endocarditis and mitral prolaps,left superior vena cava,aortic aneurysm.All had aortic regurgitation (AR) except two with aortic stenosis (AS),detected by color-flow Doppler echocardiography.The congenital quadricuspid aortic valve deformity in seven patients was diagnosed by echocardiography.All patients underwent successful aortic valve replacement.Conclusion Quadricuspid aortic valve is a rare cause of aortic insufficiency,while echocardiography plays an important role in diagnosing the disease.Aortic valve replacement is the major therapy for the disease.

  14. Treatment of Congenital Absence of the Mammary Gland

    Masaki Yazawa


    Full Text Available Breast reconstruction for breast deformity is significant not only for esthetic purposes but also from a psychological perspective. There have been a few reports on treatment of congenital simple absence of the mammary gland. For patients in puberty, even if they are in the middle of the growth phase, breast reconstruction is very important for the mental quality of life. In our two cases of congenital absence of unilateral mammary gland, breast reconstruction with a tissue expander worked well in terms of esthetic results and the psychological condition of the young patients. In our institute, operative indications are as follows: (1 a girl over 15 years old (this age is selected as breast growth can be determined at this time, (2 no endocrine-related disorders, (3 preoperative examination of breast MRI or US showing the absence or significant hypoplasia of mammary gland, and (4 a wish for breast reconstruction by the patient herself. For patients in the middle of the growth phase, silicone breast implant does not require a donor site and is easily adjustable in terms of volume to match the growth of the breast on the unaffected side by exchanging the silicone breast implant. Therefore, silicone breast implant is a better procedure than skin flaps with their accompanying large donor sites.

  15. Congenital inner ear malformations without sensorineural hearing loss.

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru


    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.

  16. All Madelung deformities are not endocrine

    Ajay Kumar


    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.

  17. Deprivation-related and use-dependent plasticity go hand in hand.

    Makin, Tamar R; Cramer, Alona O; Scholz, Jan; Hahamy, Avital; Henderson Slater, David; Tracey, Irene; Johansen-Berg, Heidi


    Arm-amputation involves two powerful drivers for brain plasticity-sensory deprivation and altered use. However, research has largely focused on sensory deprivation and maladaptive change. Here we show that adaptive patterns of limb usage after amputation drive cortical plasticity. We report that individuals with congenital or acquired limb-absence vary in whether they preferentially use their intact hand or residual arm in daily activities. Using fMRI, we show that the deprived sensorimotor cortex is employed by whichever limb individuals are over-using. Individuals from either group that rely more on their intact hands (and report less frequent residual arm usage) showed increased intact hand representation in the deprived cortex, and increased white matter fractional anisotropy underlying the deprived cortex, irrespective of the age at which deprivation occurred. Our results demonstrate how experience-driven plasticity in the human brain can transcend boundaries that have been thought to limit reorganisation after sensory deprivation in adults. DOI:

  18. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

    Tominaga, Kayo; Hayashi, Yukiko K; Goto, Kanako; Minami, Narihiro; Noguchi, Satoru; Nonaka, Ikuya; Miki, Tetsuro; Nishino, Ichizo


    Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.

  19. [Surgical treatment of the rheumatoid hand].

    Kénési, C


    In rheumatoid arthritis, involvement of the hand is serious, frequent and occurs early. It reaches synovial sheets, articular or tendinous, and causes painful and invalidating deformities. Our experience, based on 537 operations of the hand, indicates that reconstructive surgery can be practised at all levels. For the wrist, inferior radio ulnar arthrodesis strengthens the articulation and eradicates pain when performed in the early stage. Segmentar resection of ulnar diaphysis ensures the conservation of "prono- supination". In the case of destruction or luxation of the wrist, a choice has to be made between prosthesis and arthrodesis. We tend to prefer the latter which confers a strong, painless and definitive articulation. Ulnar deviation of metacarpo-phalangeal articulations of long fingers can be corrected by ligamentar or tendinous plasties. But the results are not always durable and they cannot be used when the articulations are destroyed. In that case prostheses have to be implanted. Swanson's silastic implants enable to straighten the fingers and to suppress pain but ensure a limited mobility. Likewise, interphalangeal deviations generally call for implants or arthrodeses. Trapezo-metacarpal or phalangeo-metacarpal deformities of the thumb are stabilised by arthrodeses, ensuring a strong and painless prehension. In conclusion, reconstructive surgery allows many possibilities but its results are often incomplete. It is therefore advisable to perform synovectomy as early as possible before the occurrence of deformities. Surgical synovectomy competes with isotopic, chemical or corticoid synoviosthesis. But at tendinous level, synovectomy alone should be used, since it gives excellent results. Even though rehabilitation after synovectomies is not always easy, we hope that it will prevent the occurrence of articular or tendinous destruction for many years.

  20. Idiopathic erythermalgia: a congenital disorder.

    Michiels, J J; van Joost, T; Vuzevski, V D


    Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.

  1. Endocrine disruptors and congenital anomalies

    Mônica Rittler


    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  2. Laboratory Diagnosis of Congenital Toxoplasmosis.

    Pomares, Christelle; Montoya, Jose G


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

  3. Congenital Diverticular Disease of the Entire Colon

    A. Patel


    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.

  4. Bilateral population receptive fields in congenital hemihydranencephaly

    Fracasso, Alessio; Koenraads, Yvonne; Porro, Giorgio L.; Dumoulin, Serge O.


    Purpose: Congenital hemihydranencephaly (HH) is a very rare disorder characterised by prenatal near-complete unilateral loss of the cerebral cortex. We investigated a patient affected by congenital right HH whose visual field extended significantly into the both visual hemifields, suggesting a reorg

  5. Congenital Plasmodium falciparum Malaria in Washington, DC.

    Del Castillo, Melissa; Szymanski, Ann Marie; Slovin, Ariella; Wong, Edward C C; DeBiasi, Roberta L


    Congenital malaria is rare in the United States, but is an important diagnosis to consider when evaluating febrile infants. Herein, we describe a case of congenital Plasmodium falciparum malaria in a 2-week-old infant born in the United States to a mother who had emigrated from Nigeria 3 months before delivery. © The American Society of Tropical Medicine and Hygiene.

  6. Multiple congenital defects in a newborn foal

    J.F. Silva


    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  7. Mortality in adult congenital heart disease

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.


    Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality pre

  8. Mortality in adult congenital heart disease

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)


    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regressio

  9. Congenital rubella syndrome and delayed manifestations

    Dammeyer, Jesper Herup


    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....

  10. Mortality in adult congenital heart disease

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)


    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's

  11. Mortality in adult congenital heart disease.

    Verheugt, C.L.; Uiterwaal, C.S.; Velde, E.T. van der; Meijboom, F.J.; Pieper, P.G.; Dijk, A.P.J. van; Vliegen, H.W.; Grobbee, D.E.; Mulder, B.J.


    AIMS: Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. METHODS AND RESULTS: The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was

  12. Deformable Simplicial Complexes

    Misztal, Marek Krzysztof

    In this dissertation we present a novel method for deformable interface tracking in 2D and 3D|deformable simplicial complexes (DSC). Deformable interfaces are used in several applications, such as fluid simulation, image analysis, reconstruction or structural optimization. In the DSC method......, the interface (curve in 2D; surface in 3D) is represented explicitly as a piecewise linear curve or surface. However, the domain is also subject to discretization: triangulation in 2D; tetrahedralization in 3D. This way, the interface can be alternatively represented as a set of edges/triangles separating...... demonstrate those strengths in several applications. In particular, a novel, DSC-based fluid dynamics solver has been developed during the PhD project. A special feature of this solver is that due to the fact that DSC maintains an explicit interface representation, surface tension is more easily dealt with...

  13. Autogenous Deformation of Concrete

    Autogenous deformation of concrete can be defined as the free deformation of sealed concrete at a constant temperature. A number of observed problems with early age cracking of high-performance concretes can be attributed to this phenomenon. During the last 10 years , this has led to an increased...... focus on autogenous deformation both within concrete practice and concrete research. Since 1996 the interest has been significant enough to hold international, yearly conferences entirely devoted to this subject. The papers in this publication were presented at two consecutive half-day sessions...... at the American Concrete Institute’s Fall Convention in Phoenix, Arizona, October 29, 2002. All papers have been reviewed according to ACI rules. This publication, as well as the sessions, was sponsored by ACI committee 236, Material Science of Concrete. The 12 presentations from 8 different countries indicate...

  14. Autogenous Deformation of Concrete

    Autogenous deformation of concrete can be defined as the free deformation of sealed concrete at a constant temperature. A number of observed problems with early age cracking of high-performance concretes can be attributed to this phenomenon. During the last 10 years , this has led to an increased...... focus on autogenous deformation both within concrete practice and concrete research. Since 1996 the interest has been significant enough to hold international, yearly conferences entirely devoted to this subject. The papers in this publication were presented at two consecutive half-day sessions...... at the American Concrete Institute’s Fall Convention in Phoenix, Arizona, October 29, 2002. All papers have been reviewed according to ACI rules. This publication, as well as the sessions, was sponsored by ACI committee 236, Material Science of Concrete. The 12 presentations from 8 different countries indicate...

  15. Post-laminectomy deformities

    Fabiano Stumpf Lutz


    Full Text Available Objective: To present the deformities and evaluate the results of their treatment. Methods: Retrospective study of patients with deformity following surgical access to the spinal canal. Fifteen patients who met the inclusion criteria were included. Patients without complete data in medical records were excluded. Results: Fourteen patients underwent surgical treatment and one patient received conservative treatment with vest type TLSO. The average angle of kyphosis correction was 87° preoperatively to 38° postoperatively, while the associated scoliosis correction was 69° preoperatively to 23° postoperatively. Conclusions: The prevention of deformity should be emphasized to avoid laminectomy alone, while laminoplasty should be the procedure of choice for canal access in surgeries where there is no need for resection of the posterior elements.

  16. Deformation of C isotopes

    Kanada-Enyo, Y


    Systematic analysis of the deformations of proton and neutron densities in even-even C isotopes was done based on the method of antisymmetrized molecular dynamics. The $E2$ transition strength was discussed in relation to the deformation. We analyze the $B(E2;2^+_1\\to 0^+_1)$ in $^{16}$C, which has been recently measured to be abnormally small. The results suggest the difference of the deformations between proton and neutron densities in the neutron-rich C isotopes. It was found that stable proton structure in C isotopes plays an important role in the enhancement the neutron skin structure as well as in the systematics of $B(E2)$ in the neutron-rich C.

  17. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

    Aten, E.; Hollander, N. den; Ruivenkamp, C.; Knijnenburg, J.; Bokhoven, J.H.L.M. van; Dunnen, J. den; Breuning, M.


    Congenital limb malformations are the second most common birth defects observed in infants. Split hand foot malformation (SHFM), also known as central ray deficiency, ectrodactyly and cleft hand/foot, occurs isolated or in combination with other malformations. We report on a male patient with SHFM,

  18. [Orthopedic aspects of congenital insensitivity to pain].

    Bronfen, C; Bensahel, H; Teule, J G


    The congenital insensitivity to pain regroups some rare diseases which are mainly 5: congenital insensitivity to pain; congenital sensitive neuropathies; distal sensitive neuropathies; Riley-Day syndrome or hereditary dysautonomia; at last, miscellaneous troubles. Three different cases are reported in children: true congenital insensitivity to pain; hereditary dysautonomia or Riley-Day syndrome; congenital insensitivity to pain localised to a lower limb joined to amniotic disease and abnormality of this limb. The orthopedic symptoms (osteomyelitis, arthropathies as Charcot type, dislocations, fractures) lead often to diagnosis and they are an important step of the prognosis. Scoliosis seems to be frequent in this disease. The orthopedic and surgical treatment, according to each localization, is difficult and must emphasize the prevention of bones and joints injuries.

  19. Hand chemical burns.

    Robinson, Elliot P; Chhabra, A Bobby


    There is a vast and ever-expanding variety of potentially harmful chemicals in the military, industrial, and domestic landscape. Chemical burns make up a small proportion of all skin burns, yet they can cause substantial morbidity and mortality. Additionally, the hand and upper extremity are the most frequently involved parts of the body in chemical burns, and therefore these injuries may lead to severe temporary or permanent loss of function. Despite this fact, discussion of the care of these injuries is sparse in the hand surgery literature. Although most chemical burns require only first response and wound care, some require the attention of a specialist for surgical debridement and, occasionally, skin coverage and reconstruction. Exposure to certain chemicals carries the risk of substantial systemic toxicity and even mortality. Understanding the difference between thermal and chemical burns, as well as special considerations for specific compounds, will improve patient treatment outcomes.

  20. Alien Hand Syndrome.

    Hassan, Anhar; Josephs, Keith A


    Alien hand syndrome (AHS) is a rare disorder of involuntary limb movement together with a sense of loss of limb ownership. It most commonly affects the hand, but can occur in the leg. The anterior (frontal, callosal) and posterior variants are recognized, with distinguishing clinical features and anatomical lesions. Initial descriptions were attributed to stroke and neurosurgical operations, but neurodegenerative causes are now recognized as most common. Structural and functional imaging and clinical studies have implicated the supplementary motor area, pre-supplementary motor area, and their network connections in the frontal variant of AHS, and the inferior parietal lobule and connections in the posterior variant. Several theories are proposed to explain the pathophysiology. Herein, we review the literature to update advances in the understanding of the classification, pathophysiology, etiology, and treatment of AHS.

  1. Bilateral congenital absence of anterior cruciate ligaments associated with the scoliosis and hip dysplasia: a case report and review of the literature

    HU Jun; DU Shi-xin; HUANG Zhong-lian; XIA Xue


    @@ Congenital absence of the cruciate ligaments is an extremely rare condition with a prevalence of 0.017 per 1000 live births.~1 Niebauer and King~2 first reported this disease in 1960, and after that, similar cases have been reported. These cases are usually associated with other deformities of the knee joint, such as the joint dislocation, absence of the tibial intercondylar eminence, deformity of the meniscus, dysplasia of the distal femur, etc.~3 However, its association with multiple congenital abnormalities in other areas of the body has been rarely reported. Here, we report a patient with congenital deficiency of bilateral anterior cruciate ligaments associated with scoliosis and hip dysplasia, together with the result of four years follow-up along with a literature review.

  2. Deformation in nanocrystalline metals

    Helena Van Swygenhoven


    Full Text Available It is now possible to synthesize polycrystalline metals made up of grains that average less than 100 nm in size. Such nanocrystalline metals contain a significant volume fraction of interfacial regions separated by nearly perfect crystals. The small sizes involved limit the conventional operation of dislocation sources and thus a fundamental question arises: how do these materials deform plastically? We review the current views on deformation mechanisms in nanocrystalline, face-centered cubic metals based on insights gained by atomistic computer simulations. These insights are discussed with reference to recent striking experimental observations that can be compared with predictions made by the simulations.

  3. Heat treatment deformations

    Bavaro, A. (Soliveri SpA, Caravaggio (Italy))


    Types and causes of heat treatement derived isotropic and anisotropic dilatancies in ferrous materials are reviewed. The concepts are developed in such a way as to allow extension to all materials exhibiting martensitic tempering behaviour. This paper intends to illustrate the basic processes of dimensional variations undergone by the materials under heat treatments. The parametric analysis includes an analysis of the interactions amongst the parameters themselves. The relative importance of each parameter is assessed in order to determine methods to attenuate deformation action. Simplified examples are offered to provide technicians explanations as to why specific deformations occur and indications on improved materials working techniques.

  4. Persistent reduction in left ventricular strain using two-dimensional speckle-tracking echocardiography after balloon valvuloplasty in children with congenital valvular aortic stenosis.

    Marcus, K.A.; Korte, C.L. de; Feuth, T.; Thijssen, J.M.; Oort, A.M. van; Tanke, R.B.; Kapusta, L.


    BACKGROUND: The aim of this study was to investige serial changes of myocardial deformation using two-dimensional speckle-tracking echocardiographic (2DSTE) imaging in children undergoing balloon valvuloplasty for congenital valvular aortic stenosis (VAS). METHODS: Thirty-seven children with isolate

  5. Tying the Manager's Hands

    Foss, Kirsten; Foss, Nicolai Juul; Vázquez-Vicente, Xosé H.


    AbstractWe discuss and empirically examine a firm-level equivalent of the ancient problem of `tying the King's hands,' namely how to maximize managerial intervention for `good cause,' while avoiding intervention for `bad cause.' Managers may opportunistically intervene when such intervention...... produces private benefits. Overall firm performance is harmed as a result, because opportunistic managerial intervention harms employee motivation. The central point of the paper is that various mechanisms and factors, such as managers staking their personal reputation, employees controlling important...

  6. Pediatric hand treadmill injuries.

    Banever, Gregory T; Moriarty, Kevin P; Sachs, Barry F; Courtney, Richard A; Konefal, Stanley H; Barbeau, Lori


    The great popularity of physical fitness in modern society has brought many pieces of exercise equipment into our homes for convenience and privacy. This trend has come with an increasing rate of injuries to children who curiously touch moving parts, including treadmill belts. Experience with a recent series of treadmill contact burns to children's hands is described in this article. A retrospective chart review at a tertiary referral center from June 1998 until June 2001 found six children sustaining hand burns from treadmills. The patients' ages at presentation ranged from 15 to 45 months (average of 31 months, three boys and three girls). All injuries occurred in the home while a parent was using the treadmill. Burns involved the palmar aspect of the hand, mostly confined to the fingers, and the severity ranged from partialto full-thickness burns. All patients were initially managed with collagenase and bacitracin zinc/polymyxin B powder dressings to second- and third-degree burns, along with splinting and range-of-motion exercises. Two patients required skin grafting at 2 weeks and 2 months for full-thickness tissue loss and tight joint contracture, respectively. At an average follow-up of 12 months, all patients had full range of motion and no physical limitation. The rate of children injured by exercise equipment is expected to increase. Friction burns to the hands remain a concern, although early recognition and appropriate management are associated with excellent functional outcomes. Protective modification of exercise machines seems to be the best approach to eliminating these injuries.

  7. Hand Hygiene Saves Lives

    Full Text Available ... Vital Signs Vital Signs – Presión Arterial Alta Other Languages Arabic احصل على التطعيم لتجنب الحصبة French Faites- ... captioning. Videos are prepared for different audiences including, children, parents, and public health professionals. More > Hand Hygiene ...

  8. Compact Dexterous Robotic Hand

    Lovchik, Christopher Scott (Inventor); Diftler, Myron A. (Inventor)


    A compact robotic hand includes a palm housing, a wrist section, and a forearm section. The palm housing supports a plurality of fingers and one or more movable palm members that cooperate with the fingers to grasp and/or release an object. Each flexible finger comprises a plurality of hingedly connected segments, including a proximal segment pivotally connected to the palm housing. The proximal finger segment includes at least one groove defining first and second cam surfaces for engagement with a cable. A plurality of lead screw assemblies each carried by the palm housing are supplied with power from a flexible shaft rotated by an actuator and output linear motion to a cable move a finger. The cable is secured within a respective groove and enables each finger to move between an opened and closed position. A decoupling assembly pivotally connected to a proximal finger segment enables a cable connected thereto to control movement of an intermediate and distal finger segment independent of movement of the proximal finger segment. The dexterous robotic hand closely resembles the function of a human hand yet is light weight and capable of grasping both heavy and light objects with a high degree of precision.

  9. [Congenital malformations: care or predict?].

    Pellerin, D


    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  10. [Costs of hand emergencies].

    Raimbeau, G


    In France at the present time, there is no comprehensive registry of hand injuries. Three types of occurrences; motor vehicle accidents, work accidents, and accidents incident to activities of daily living, are covered by different types of insurance. It is the individual insurance companies, payers of the indemnification, who maintain registries of these accidents. Statistics on work accidents are very detailed and consistent, but they are oriented toward risk management. The aggregate cost of traumatic injuries to the hand is not known. Only large financial institutions are equipped to determine appropriate preventive measures and to establish premium rates based on loss experience. In 2001, hand injuries accounted for 27% of work accidents causing loss of work of at least 1 day. About 29.8% of these work accidents caused permanent partial impairment. About 17.7% of total days lost and 18.2% of the total costs of permanent impairment were due to hand injuries. In the system of compensation for work accidents, there is a major difference in the cost according to the severity of the impairment. If the permanent impairment is equal to or less than 9%, a lump sum payment is made, but if the permanent impairment is over 9%, the worker receives regular payments for the rest of his life. In 2000, the average cost of a work injury with partial permanent impairment of over 9% was [symbol: see text] 85,405, while the average cost of a lump sum settlement was only [symbol: see text] 1479, a ratio of 57 to 1. The compensation costs represent 80% of the cost of work accidents, while the cost of treatment, including all providers and institutions, makes up only 20% of the cost. Compensation for sequelae of accidents in the course of daily life is new for the insurance companies, although these accidents are frequent and often cause significant repercussions in the professional lives of victims because of the loss of hand function. Provision of optimal treatment for these

  11. Surgical advances for congenital ear malformation%先天性小耳畸形手术治疗进展



    Congenital ear malformation is caused by developmental abnormalities of the first and second branchial arch. Congenital ear malformation is performance ear hypoplasia and smaller than normal size, often accompanied by external auditory canal atresia and middle ear deformities. Surgery is the main treatment for congenital microtia. This article mainly reviewed the progress on auricle reconstruction, auditory rehabilitation and other surgical treatment.%先天性小耳畸形是由第一鳃弓和第二鳃弓发育异常引起的,为耳郭发育不全且较正常者为小,常伴有外耳道闭锁、中耳畸形.手术治疗是小耳畸形治疗的最主要手段,本文就小耳畸形耳郭成形术、听力重建以及相关手术进展做一综述.

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

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


    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.

  13. Implicit familiarity processing in congenital prosopagnosia.

    Avidan, Galia; Behrmann, Marlene


    A particularly interesting and somewhat puzzling finding in the face-processing literature is that, despite the absence of overt recognition of most faces, many patients with acquired prosopagnosia (AP) exhibit evidence of intact covert face recognition of the very same faces. This phenomenon has important implications for the understanding of the mechanism underlying AP and, by extension, the mechanism underlying normal face processing. Here, we set out to examine whether individuals with congenital prosopagnosia (CP) exhibit a similar dissociation between overt and covert face recognition. We first confirmed that all six of our CP individuals were significantly impaired in face recognition in comparison with controls. Participants then completed a matching task with both famous and unknown faces in which they decided whether two consecutive images have the same identity or not. Critically, the level of face familiarity was orthogonal to the task at hand and this enabled us to examine whether the familiarity of a face enhanced identity matching, a finding which would implicate implicit face processing. As expected, the CP individuals were slower and less accurate than the control participants. More importantly, like the controls, the CP individuals were faster and more accurate at matching famous compared with unknown faces. Also, for both groups, matching performance on unrecognized famous faces fell at an intermediate level between performance on explicitly recognized famous faces and faces which are unknown. These results provide the first solid evidence for the existence of implicit familiarity processing in CP and suggest that, despite the marked impairment in explicit face recognition, these individuals still have some familiarity representation which manifests in the form of covert recognition. We discuss possible models to account for the apparent dissociation of overt and covert face processing in CPR.

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

    Mukesh Tiwari


    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

  15. Total Knee Arthroplasty in a Patient with Neglected Congenital Patellar Dislocation

    Emrah Kovalak


    Full Text Available Congenital patellar dislocation is a rare deformity and late presentation is usually with knee osteoarthritis. Total knee arthroplasty (TKA is also a treatment choice of this rare pathology. There are few cases reported gonarthrosis with congenital patellar dislocation treated with TKA. And there are some contradictions in the written literature. This article presents a case of a 55 years old woman who had left knee pain for 8 years that was worsened in last 2 years with gonarthrosis and congenital patellar dislocation treated by cruciate retaining TKA with proximal and distal patellar alignment without patellar resurfacing. At the final follow-up after 1 year ROM was 5°-100°. There was no patellar maltracking or instability. The Knee Society score and functional scores were 55 and 15 preoperatively, improved to 83 and 55 respectively at the postoperative period. Congenital patella dislocation with gonarthrosis is hard to manage by TKA, but it can be handled with a good pre-operative planning with meticulous attention.

  16. Performance Comparison Between FEDERICA Hand and LARM Hand

    Giuseppe Carbone


    Full Text Available This paper describes two robotic hands that have been developed at University Federico II of Naples and at the University of Cassino. FEDERICA Hand and LARM Hand are described in terms of design and operational features. In particular, careful attention is paid to the differences between the above-mentioned hands in terms of transmission systems. FEDERICA Hand uses tendons and pulleys to drive phalanxes, while LARM Hand uses cross four-bar linkages. Results of experimental tests are reported to show how key design issues affect each robotic hand’s performance.

  17. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA

    Mehran KARIMI


    Full Text Available How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA. Iran J Child Neurol 2012; 6(3: 45-48. Congenital insensitivity to pain and anhidrosis (CIPA or hereditary sensoryautonomic neuropathies type IV (HSAN type IV is an extremely rare autosomalrecessive disorder initially described by Swanson in 1963.We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran.The symptoms included recurrent episodes of hyperthermia and unexplainedfever that began in early infancy, anhidrosis (inability to sweat, profound lossof pain sensitivity, neurodevelopmental delay, unconscious self-mutilation offingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painfulfracture and joint deformities in the right ankle. Tearing, deep tendon reflexesand motor and sensory nerve action potentials were normal.Prenatal screening is the sole accessible option to prevent the birth of anaffected child as no cure is available. Early recognition of CIPA patients and itsorthopedic complications, prevention of accidental injuries, regular visual andeye follow-up and specific dental management could be useful in the reductionof frequency and severity of complications. ReferencesNagasako EM, Oaklander AL, Dworkin RH.Congenital insensitivity to pain: an update. Pain 2003 Feb;101(3:213-9.Swanson AG. Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings.Arch Neurol 1963 Mar;8:299-306.Dave N, Sonawane A, Chanolkar S. Hereditary sensoryautonomic neuropathy and anaesthesia - a case report.Indian J Anaesth 2007;51(6:528-30.Sasnur AH, Sasnur PA, Ghaus-Ul RS.Congenital insensitivity to pain and anhidrosis. Indian J Orthop 2011May-Jun;45(3:269-71.Lin YP, Su YN, Weng WC, Lee WT. Novel neurotrophictyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J Child Neurol 2010 Dec;25(12:1548-51.Eslamian

  18. Marginally Deformed Starobinsky Gravity

    Codello, A.; Joergensen, J.; Sannino, Francesco


    We show that quantum-induced marginal deformations of the Starobinsky gravitational action of the form $R^{2(1 -\\alpha)}$, with $R$ the Ricci scalar and $\\alpha$ a positive parameter, smaller than one half, can account for the recent experimental observations by BICEP2 of primordial tensor modes....

  19. Deformed diffusion and generalized Laplacian for directed networks

    Fanuel, Michaël


    A diffusion equation on a complex network is usually implemented with the help of the combinatorial Laplacian which incorporates information about the network structure. In this paper, a deformed diffusion equation on directed networks, governed by a generalized Laplacian, is introduced within a framework of discrete differential forms, closely related to combinatorial Hodge theory. Edge directions are incorporated with the help of an edge flow $1$-form, whose deforming impact is controlled by a coupling constant. Hence, information about the community structure is encoded in the dominant modes in the long time limit. On the one hand, for a small deformation of the combinatorial Laplacian, the dominant modes of the deformed diffusion allow to uncover community structures which are only encoded in the edge directions. We show that the dynamics distinguishes two categories of nodes, i.e. the nodes with a majority of outgoing links from the nodes with a majority of incoming links. Furthermore, the categorization...

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

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


    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.

  1. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

    Mohamed Abdel Megied Abo El-Magd


    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

  2. Back to basics: hand hygiene and surgical hand antisepsis.

    Spruce, Lisa


    Health care-associated infections (HAIs) are a significant issue in the United States and throughout the world, but following proper hand hygiene practices is the most effective and least expensive way to prevent HAIs. Hand hygiene is inexpensive and protects patients and health care personnel alike. The four general types of hand hygiene that should be performed in the perioperative environment are washing hands that are visibly soiled, hand hygiene using alcohol-based products, surgical hand scrubs, and surgical hand scrubs using an alcohol-based surgical hand rub product. Barriers to proper hand hygiene may include not thinking about it, forgetting, skin irritation, a lack of role models, or a lack of a safety culture. One strategy for improving hand hygiene practices is monitoring hand hygiene as part of a quality improvement project, but the most important aspect for perioperative team members is to set an example for other team members by following proper hand hygiene practices and reminding each other to perform hand hygiene.

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

    Jitka Rychtarikova


    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.

  4. Management of Hand Burns

    Fatih Irmak


    Full Text Available Objective: The hand is one of the most frequently affected body parts by burn injuries with a rate of 80% among all burn wounds. Early and effective treatment ensures the best chance of survival as well as a good functional prognosis. The aim of this study was to determine the epidemiology, variation, relationship between etiology and hospital stay, clinical features, and management of hand burns. Material and Methods: This retrospective study was conducted the University of Health Sciences; Şişli Hamidiye Etfal Application and Research Center, Departmant of Plastic, Reconstructive and Aesthetic Surgery and the Intensive Burn Care Unit between April 2009 and April 2014. Burns were assessed based on etiology, anatomical location, percentage of total body surface area affected, and depth of injury. Treatment was categorized as conservative, elective operative, or urgent operative. Results: In the study period, 788 patients were admitted to our Burn Unit. Of these, 240 were females (30.5% and 548 were males (69.5%. The most common type of burn injury in this study was thermal injury (695 cases; 88.2%, followed by electrical injury (67 cases; 8.5%, and chemical, frictional or unknown injuries (26 cases; 3.3%. Majority (more than 85% of the patients had second-degree burns, and some had third-degree burns. Conclusions: Burns commonly affect the hands, and many functional problems may develop if appropriate basic treatments are neglected. The best treatment for burns is prevention. Appropriate indoor arrangement and simple but effective measures that can be taken at home can significantly reduce burn trauma exposure.

  5. Angiographic analysis of congenital mitral stenosis

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


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

  6. Congenital thoracic lordosis and scoliosis in a cat.

    Lee, Maris S; Taylor, Jim; Lefbom, Bonnie


    A 10-week-old domestic shorthair kitten was referred for intermittent episodes of dyspnea, cyanosis and a suspected congenital thoracic anomaly. Physical examination showed an obvious palpable concavity in the caudal thoracic spine. Thoracic radiographs showed severe caudal thoracic lordosis from T5 to T13 with a Cobb angle of -77°, a centroid lordosis angle of -68°, a vertebral index of 6.3 and a flattened sternum. Severe loss of vital capacity was suspected and surgical correction of the thoracic deformity was to be performed in two separate stages, the first being surgical ventral distraction on the sternum to increase thoracic volume and rigid fixation with an external splint. The second stage, if required, would be surgical correction of the spinal deformity to also increase thoracic volume. The initial stage of surgery was performed and postoperative radiographs showed a vertebral index of 10.3. The kitten suffered a left sided pneumothorax in recovery and died from cardiorespiratory arrest despite immediate pleural drainage and cardiopulmonary resuscitation. Treatment recommendations that may benefit future case management are discussed. © ISFM and AAFP 2014.

  7. Congenital pseudarthrosis of the tibia: Management and complications

    Hitesh Shah


    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.

  8. Deformed Algebras and Generalizations of Independence on Deformed Exponential Families

    Hiroshi Matsuzoe


    Full Text Available A deformed exponential family is a generalization of exponential families. Since the useful classes of power law tailed distributions are described by the deformed exponential families, they are important objects in the theory of complex systems. Though the deformed exponential families are defined by deformed exponential functions, these functions do not satisfy the law of exponents in general. The deformed algebras have been introduced based on the deformed exponential functions. In this paper, after summarizing such deformed algebraic structures, it is clarified how deformed algebras work on deformed exponential families. In fact, deformed algebras cause generalization of expectations. The three kinds of expectations for random variables are introduced in this paper, and it is discussed why these generalized expectations are natural from the viewpoint of information geometry. In addition, deformed algebras cause generalization of independences. Whereas it is difficult to check the well-definedness of deformed independence in general, the κ-independence is always well-defined on κ-exponential families. This is one of advantages of κ-exponential families in complex systems. Consequently, we can well generalize the maximum likelihood method for the κ-exponential family from the viewpoint of information geometry.

  9. Deformation of chlorite in naturally deformed low-grade rocks

    Bons, A.J.


    The intracrystalline deformation of chlorite in naturally deformed low-grade rocks was investigated with transmission electron microscopy (TEM). As in other phyllosilicates, the deformation of chlorite is dominated by the (001) slip plane. Slip along this plane is very easy through the generation an

  10. Hand grip strength

    Frederiksen, Henrik; Gaist, David; Petersen, Hans Christian


    in life is a major problem in terms of prevalence, morbidity, functional limitations, and quality of life. It is therefore of interest to find a phenotype reflecting physical functioning which has a relatively high heritability and which can be measured in large samples. Hand grip strength is known......-55%). A powerful design to detect genes associated with a phenotype is obtained using the extreme discordant and concordant sib pairs, of whom 28 and 77 dizygotic twin pairs, respectively, were found in this study. Hence grip strength is a suitable phenotype for identifying genetic variants of importance to mid...

  11. Cinematic Motion by Hand

    Graca, Marina Estela


    if we could ascertain a specific ontology for animation within technology that would explain how its marginality is rooted to its essence at least in one of its forms? In this paper I will try to argue that, by overwhelming the cinematic technical standard workings with their hand, authors exposed its...... functional scheme to contingency, thus opening the production process to new unpredictable expressive and communicative possibilities. I will attempt to explain how this corresponds to a renewed way of comprehending technology by, simultaneously, revealing the human reality it contains and physiologically...

  12. Control of Grasp and Manipulation by Soft Fingers with 3-Dimensional Deformation

    Nakashima, Akira; Shibata, Takeshi; Hayakawa, Yoshikazu

    In this paper, we consider control of grasp and manipulation of an object in a 3-dimensional space by a 3-fingered hand robot with soft finger tips. We firstly propose a 3-dimensional deformation model of a hemispherical soft finger tip and verify its relevance by experimental data. Second, we consider the contact kinematics and derive the dynamical equations of the fingers and the object where the 3-dimensional deformation is considered. For the system, we thirdly propose a method to regulate the object and the internal force with the information of the hand, the object and the deformation. A simulation result is presented to show the effectiveness of the control method.

  13. In Situ Observation of Small-Scale Deformation in a Lead-Free Solder Alloy

    Sun, Yong; Liang, Jin; Xu, Zhi-Hui; Wang, Guofeng; Li, Xiaodong


    In situ observation of the local, small-scale deformation behavior of a Sn-Ag-Cu (SAC387) alloy under extremely small strain rates was realized using a custom-designed mechanical testing stage integrated with atomic force microscopy (AFM) and optical microscopy. Grain boundary sliding (GBS) hand in hand with grain boundary decohesion (GBD) is the dominant mechanism in the early stage of deformation (<8.0% local strain) while intragranular slip bands are observed in the large-strain regime for the dendritic microstructure at room temperature. The deformation mechanisms of SAC387 are discussed in detail with reference to its microstructural constituents and mechanical properties.

  14. Post septorhinoplasty custom-made unilateral nasal stent for nasal cleft deformity

    Manu Rathee


    Full Text Available Context: Nasal cleft deformity is a complicated problem. Utilization of nasal stent in post septorhinoplastyaims at establishing and maintaining airway patency, tissue position, and reduces tissue contracture after surgery. Case Report: A 16-year-old female patient presented with history of surgical reconstruction of congenital cleft lip and cleft palate with secondary septorhinoplasty of nasal cleft deformity. Patient was referred for nasal stent 1 week after septorhinoplasty. This case report provides a novel technique for fabrication of esthetic nasal stent after postseptorhinoplasty for secondary cleft nose deformity correction. Conclusion: This case report presents a simple, convenient technique for nasal stent fabrication for prevention of restenosis for cleft nose deformity post secondary septorhinoplasty. Provision of nasal stent allows breathing, maintains esthetics, comfort, nasal patency, and contour with minimal discomfort.

  15. Diagnostic value of echocardiography in isolated congenital unilateral lung agenesis combined with different anomalies: Two rare cases in children.

    He, Huan; Sun, Feifei; Ren, Weidong; Wang, Yonghuai; Xu, Shu


    Unilateral lung agenesis, a rare congenital deformity, is secondary to abnormal embryonic development, leading to a shift of the mediastinum and remaining lung. In our case reports, we describe the diagnostic courses of two pediatric patients with unilateral lung agenesis admitted to our hospital in 2014. We present and compare the findings in transthoracic echocardiography with that in CT. Echocardiography played a pivotal role in revealing pulmonary deformities and leading to the diagnosis. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:514-517, 2016.

  16. Postural deformities in Parkinson's disease

    Doherty, K.M.; Warrenburg, B.P.C. van de; Peralta, M.C.; Silveira-Moriyama, L.; Azulay, J.P.; Gershanik, O.S.; Bloem, B.R.


    Postural deformities are frequent and disabling complications of Parkinson's disease (PD) and atypical parkinsonism. These deformities include camptocormia, antecollis, Pisa syndrome, and scoliosis. Recognition of specific postural syndromes might have differential diagnostic value in patients prese

  17. Nonperturbative effects in deformation quantization

    Periwal, V


    The Cattaneo-Felder path integral form of the perturbative Kontsevich deformation quantization formula is used to explicitly demonstrate the existence of nonperturbative corrections to na\\"\\i ve deformation quantization.

  18. Unilateral straight hair and congenital horner syndrome.

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A


    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

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

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


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

  20. Right congenital pleuro-peritoneal hiatus hernia

    Sankar DK


    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.