Entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus.

PubMed

Liang, Jie; Wu, Weifei; Ru, Neng; Chen, Jianfeng

2017-01-01

The syrinx can occur in any region of the spinal cord and is common in cervical and/or thoracic region, and distributing along spinal cord is unusual, especially association with Chiari II malformation and scoliosis. To report a first case of entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus. The patient began to experience symptoms of bilateral hand weakness in adulthood. In this patient, MR imaging of the brain and spine showed syrinx along entire spine and hydrocephalus, cerebellar tonsillar herniation, and expansion of the fourth ventricle and posterior cranial fossa. The patient underwent operative treatment to prevent the progression of her neurological deficit. At 12 months' follow-up, the patient's neurological deficit remains stable with the scoliosis left untreated. Foramen magnum decompression, duraplasty and syrinx-shunting are effective methods even to CM II and entire syrinx.

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

PubMed

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

2015-07-01

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

Chiari-like Malformation.

PubMed

Loughin, Catherine A

2016-03-01

Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. Copyright © 2016 Elsevier Inc. All rights reserved.

Tethered cord in patients affected by anorectal malformations: a survey from the ARM-Net Consortium.

PubMed

Fanjul, María; Samuk, I; Bagolan, P; Leva, E; Sloots, C; Giné, C; Aminoff, D; Midrio, P

2017-08-01

The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%. Ninety-six agreed on screening all patients for TC regardless the type of ARM and 79% start screening at birth. Responses varied in TC definition and diagnostic tools. Fifty percent of respondents prefer ultrasound (US), 21% indicate either US or magnetic resonance (MRI) based on a pre-defined risk of presenting TC, and 21% perform both. Discrepancy exists in complementary test: 82% carry out urodynamic studies (UDS) and only 37% perform somatosensory-evoked potentials (SSEP). Prophylactic untethering is performed in only two centers (8%). Survey results support TC screening in all patients with ARM and conservative management of TC. There is discrepancy in the definition of TC, screening tools, and complementary test. Protocols should be developed to avoid such variability in management.

Poorly understood and often miscategorized congenital umbilical cord hernia: an alternative repair method.

PubMed

İnce, E; Temiz, A; Ezer, S S; Gezer, H Ö; Hiçsönmez, A

2017-06-01

Umbilical cord hernia is poorly understood and often miscategorized as "omphalocele minor". Careless clamping of the cord leads to iatrogenic gut injury in the situation of umbilical cord hernia. This study aimed to determine the characteristics and outcomes of umbilical cord hernias. We also highlight an alternative repair method for umbilical cord hernias. We recorded 15 cases of umbilical cord hernias over 10 years. The patients' data were retrospectively reviewed, and preoperative preparation of the newborn, gestational age, birth weight, other associated malformations, surgical technique used, enteral nutrition, and length of hospitalization were recorded. This study included 15 neonates with umbilical cord hernias. The mean gestational age at the time of referral was 38.2 ± 2.1 malformations, including agenesis of the right kidney, left kidney with a duplex system, coarctation of the aorta, ventricular septal defect, meningocele, club foot, and choanal atresia. Surgical exploration was carried out in all of the neonates and they underwent corrective surgery with good outcomes. In an umbilical cord hernia, the body folds develop normally and form the umbilical ring. The double purse-string technique is easy to apply and produces satisfactory cosmetic results in neonates with umbilical cord hernias.

Chiari III malformation: a comprehensive review of this enigmatic anomaly.

PubMed

Ivashchuk, Galyna; Loukas, Marios; Blount, Jeffrey P; Tubbs, R Shane; Oakes, W Jerry

2015-11-01

Chiari III is one of the rarest of the Chiari malformations and is characterized by a high cervical or low occipital encephalocele and osseous defect with or without spinal cord involvement and may include many of the anatomical characteristics seen in the Chiari II malformation. Herein, we provide a comprehensive review of this rare anomaly as well as a translation of Chiari's original description. We review all reported cases of Chiari III malformation found in the extant literature. Out of 57 reported cases of Chiari III malformation, encephaloceles were in a high cervical/low occipital position in 23, 8 were in a high cervical position, 17 were in low occipital position, and the position in 9 cases was not reported. The pathogenesis of Chiari III malformation remains unclear. The majority of patients have concomitant hydrocephalus. Brain parts occurring in the sac from the most to least common include the following: cerebellum, occipital lobe, and parietal lobe. The severity of symptoms is correlated with the amount of brain structures within the encephalocele. Neurologic functional outcomes have been varied and depend on the neurological status of the patient before surgery.

Cavalier King Charles Spaniels with Chiari-like malformation and Syringomyelia have increased variability of spatio-temporal gait characteristics.

PubMed

Olsen, Emil; Suiter, Emma Jane; Pfau, Thilo; McGonnell, Imelda M; Matiasek, Kaspar; Giejda, Anna; Volk, Holger Andreas

2017-06-06

Chiari-like malformation in the Cavalier King Charles Spaniel is a herniation of the cerebellum and brainstem into or through the foramen magnum. This condition predisposes to Syringomyelia; fluid filled syrinxes within the spinal cord. The resulting pathology in spinal cord and cerebellum create neuropathic pain and changes in gait. This study aims to quantify the changes in gait for Cavalier King Charles Spaniel with Chiari-like malformation and Syringomyelia. We compared Cavalier King Charles Spaniel with Chiari-like malformation with (n = 9) and without (n = 8) Syringomyelia to Border Terriers (n = 8). Two video cameras and manual tracking was used to quantify gait parameters. We found a significant increase in coefficient of variation for the spatio-temporal characteristics and ipsilateral distance between paws and a wider base of support in the thoracic limbs but not in the pelvic limbs for Cavalier King Charles Spaniels compared with the border terrier.

[Nuclear magnetic resonance of anorectal malformations and persistent postoperative fecal incontinence].

PubMed

de Agustín, J C; Alami, H; Lassaletta, L; Gámez, M; Fernández, A; Fraile, E; Alenda, J G; Rollán, V; Utrilla, J G

1992-07-01

We review our experience with Magnetic Resonance Imaging (MRI) in the evaluation of 6 patients showing anorectal malformation, and 4 more with persistent postoperative fecal incontinence. Preoperative sagittal, axial and coronal planes were studied with special consideration to the pelvic and vertebral structures. The excellent resolution of MRI allowed accurate identification of the pelvic musculature in all patients, including those with bizarre sacral abnormalities. MRI revealed structural anomalies not detected previously, such as teathering cord, intraspinal lipoma, presacral mass and renal malformation. In our institution, MRI has replaced the CT scan in the study of patients suffering of persistent fecal incontinence. In non operated on cases of anorectal malformations, MRI determines with extraordinary accuracy the location of the rectal atretic pouch, the actual pelvic muscular quality, and the detection of previously unsuspected associated anomalies.

Comparison of the scoliosis curve patterns and MRI syrinx cord characteristics of idiopathic syringomyelia versus Chiari I malformation.

PubMed

Zhu, Zezhang; Sha, Shifu; Chu, Winnie C C; Yan, Huang; Xie, Dingding; Liu, Zhen; Sun, Xu; Zhu, Weiguo; Cheng, Jack C Y; Qiu, Yong

2016-02-01

Although the more readily available MR imaging has brought about more incidental findings of idiopathic syringomyelia (IS), no published study has specifically addressed the clinical and imaging features of IS-associated scoliosis. Since IS and Chiari I malformation (CMI)-type syringomyelia are hypothesized to share a common underlying developmental pathomechanism, this study aimed to investigate the scoliosis curve patterns and MRI syrinx cord characteristics of patients with IS comparing with those seen in CMI. Sixty-one patients with scoliosis secondary to IS were identified and reviewed retrospectively. The curve pattern and specific curve features were recorded and compared with historic CMI controls. Location, size, and morphological appearance of the syrinx were systematically assessed on MR images. The maximal syrinx/cord ratio and rostrocaudal length of the syrinx in IS averaged 0.43 ± 0.16 (range 0.17-0.78) and 4.6 ± 2.5 (range 2-15) vertebral levels, respectively, both of which were smaller than those reported in CMI-type syringomyelia. Regarding the characteristics of IS-related scoliosis, sagittal profiles as well as the frequency of curve patterns and atypical features were all found to resemble those in patients with CMI (P > .05). Among the 47 individuals with a single thoracic curve, Fisher exact test revealed a significant correlation between curve convexity and the dominant side of deviated syrinx (83.3 % concordance rate, P = .021). In addition, apex of the thoracic curve trended toward being significantly correlated with the level of maximum expansion of the syrinx (P = .066). Radiological characteristics of scoliosis were found to be similar between idiopathic and CMI-type syrinx in both the coronal and sagittal planes, adding further evidence to the concept that these entities may be part of a spectrum of disease sharing a common pathophysiological mechanism. The thoracic spine in IS patients tended to be convex to the deviated side of

Spinal cord stress injury assessment (SCOSIA): clinical applications of mechanical modeling of the spinal cord and brainstem

NASA Astrophysics Data System (ADS)

Wong, Kenneth H.; Choi, Jae; Wilson, William; Berry, Joel; Henderson, Fraser C., Sr.

2009-02-01

Abnormal stretch and strain is a major cause of injury to the spinal cord and brainstem. Such forces can develop from age-related degeneration, congenital malformations, occupational exposure, or trauma such as sporting accidents, whiplash and blast injury. While current imaging technologies provide excellent morphology and anatomy of the spinal cord, there is no validated diagnostic tool to assess mechanical stresses exerted upon the spinal cord and brainstem. Furthermore, there is no current means to correlate these stress patterns with known spinal cord injuries and other clinical metrics such as neurological impairment. We have therefore developed the spinal cord stress injury assessment (SCOSIA) system, which uses imaging and finite element analysis to predict stretch injury. This system was tested on a small cohort of neurosurgery patients. Initial results show that the calculated stress values decreased following surgery, and that this decrease was accompanied by a significant decrease in neurological symptoms. Regression analysis identified modest correlations between stress values and clinical metrics. The strongest correlations were seen with the Brainstem Disability Index (BDI) and the Karnofsky Performance Score (KPS), whereas the weakest correlations were seen with the American Spinal Injury Association (ASIA) scale. SCOSIA therefore shows encouraging initial results and may have wide applicability to trauma and degenerative disease involving the spinal cord and brainstem.

Polychlorinated biphenyls in umbilical cord serum of newborns from Rio Grande do Sul state, Brazil.

PubMed

Mohr, Susana; Sifuentes dos Santos, Joice; Schwanz, Thiago Guilherme; Wagner, Roger; Mozzaquatro, Joseane Oliveira; Lorenzoni, Alessandra Scherer; Costabeber, Ijoni Hilda

2015-12-07

Polychlorinated biphenyls (PCBs) are food-chain contaminants that have been shown to contaminate foods worldwide. The newborn are exposed to these organochlorine compounds across the placenta and through breastfeeding. They are proven to be carcinogenic and may contribute to congenital malformation etiology. This study examined levels of five PCB congeners (28, 52, 138, 153 and 180) in umbilical cord serum samples from 148 newborns from Rio Grande do Sul state, Brazil. Serum concentrations of PCBs were analyzed by gas chromatography with electron capture detection and mass spectrometry. Levels of ∑PCBs ranged from 0.35 to 55.17 ng/ml in umbilical cord serum positive samples, and PCB 138 was the most prevalent congener. Only 7.4% of samples presented no PCB congener. Some PCB congener cord serum levels were related to the locale of the mothers' residence, smoking and drinking habits, fruit consumption, and congenital malformation. Copyright © 2015 Elsevier B.V. All rights reserved.

[Larsen syndrome: two reports of cases with spinal cord compromise].

PubMed

Martín Fernández-Mayoralas, D; Fernández-Jaén, A; Muñoz-Jareño, N; Calleja-Pérez, B; San Antonio-Arce, V; Martínez-Boniche, H

Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

Dlx5 Homeodomain: DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Proudfoot, Andrew; Axelrod, Herbert L.; Geralt, Michael

The Dlx5 homeodomain is a transcription factor related to the Drosophila Distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including Split Hand and Foot Malformation-1 (SHFM-1) in humans. Our characterization of a Dlx5 homeodomain–(CGACTAATTAGTCG) 2 complex by NMR spectroscopy paved the way for determination of its crystal structure at 1.85 Å resolution that enabled rationalization of the effects of disease-related mutations on the protein function. A remarkably subtle mutation, Q186H, is linked tomore » SHFM-1; this change likely affects affinity of DNA binding by disrupting water-mediated interactions with the DNA major groove. A more subtle effect is implicated for the Q178P mutation, which is not in direct contact with the DNA. Our data indicate that these mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and likely destabilize the formation of functional complexes.« less

Dlx5 Homeodomain: DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome

DOE PAGES

Proudfoot, Andrew; Axelrod, Herbert L.; Geralt, Michael; ...

2016-01-29

The Dlx5 homeodomain is a transcription factor related to the Drosophila Distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes, including Split Hand and Foot Malformation-1 (SHFM-1) in humans. Our characterization of a Dlx5 homeodomain–(CGACTAATTAGTCG) 2 complex by NMR spectroscopy paved the way for determination of its crystal structure at 1.85 Å resolution that enabled rationalization of the effects of disease-related mutations on the protein function. A remarkably subtle mutation, Q186H, is linked tomore » SHFM-1; this change likely affects affinity of DNA binding by disrupting water-mediated interactions with the DNA major groove. A more subtle effect is implicated for the Q178P mutation, which is not in direct contact with the DNA. Our data indicate that these mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and likely destabilize the formation of functional complexes.« less

Congenital dermal sinus tract of the spine: experience of 16 patients.

PubMed

Mete, Mesut; Umur, Ahmet Sukru; Duransoy, Yusuf Kurtuluş; Barutçuoğlu, Mustafa; Umur, Nurcan; Gurgen, Seren Gulsen; Selçuki, Mehmet

2014-10-01

Congenital dermal sinus tract is a rare entity which lined by epithelial cells and can end anywhere between subcutaneous planes to thecal sac. These tracts may be accompanied with other pathologies such as lipomyelomeningocele, myelomeningocele, split cord malformation, tethered cord, filum abnormality and inclusion tumors and treatment includes resection of tract with intradural exploration. The authors review their experience with 16 cases. Clinical, radiological appearance and treatment of these lesions discussed with literature review. © The Author(s) 2014.

Extreme umbilical cord lengths, cord knot and entanglement: Risk factors and risk of adverse outcomes, a population-based study

PubMed Central

Kessler, Jörg

2018-01-01

Objectives To determine risk factors for short and long umbilical cord, entanglement and knot. Explore their associated risks of adverse maternal and perinatal outcome, including risk of recurrence in a subsequent pregnancy. To provide population based gestational age and sex and parity specific reference ranges for cord length. Design Population based registry study. Setting Medical Birth Registry of Norway 1999–2013. Population All singleton births (gestational age>22weeks<45 weeks) (n = 856 300). Methods Descriptive statistics and odds ratios of risk factors for extreme cord length and adverse outcomes based on logistic regression adjusted for confounders. Main outcome measures Short or long cord (<10th or >90th percentile), cord knot and entanglement, adverse pregnancy outcomes including perinatal and intrauterine death. Results Increasing parity, maternal height and body mass index, and diabetes were associated with increased risk of a long cord. Large placental and birth weight, and fetal male sex were factors for a long cord, which again was associated with a doubled risk of intrauterine and perinatal death, and increased risk of adverse neonatal outcome. Anomalous cord insertion, female sex, and a small placenta were associated with a short cord, which was associated with increased risk of fetal malformations, placental complications, caesarean delivery, non-cephalic presentation, perinatal and intrauterine death. At term, cord knot was associated with a quadrupled risk of perinatal death. The combination of a cord knot and entanglement had a more than additive effect to the association to perinatal death. There was a more than doubled risk of recurrence of a long or short cord, knot and entanglement in a subsequent pregnancy of the same woman. Conclusion Cord length is influenced both by maternal and fetal factors, and there is increased risk of recurrence. Extreme cord length, entanglement and cord knot are associated with increased risk of adverse

Prenatal diagnosis of diastematomyelia.

PubMed

Sonigo-Cohen, Pascale; Schmit, Pierre; Zerah, Michel; Chat, Latifa; Simon, Isabelle; Aubry, Marie Cécile; Gonzales, Marie; Pierre-Kahn, Alain; Brunelle, Francis

2003-08-01

Diastematomyelia, also termed split cord malformation, is a form of occult spinal dysraphism characterized by a cleft in the spinal cord. Prenatal diagnosis of this anomaly is possible by ultrasonography (US), and fetal MRI can be used to diagnose the type of diastematomyelia precisely. Diastematomyelia can be isolated or associated with other dysraphisms, segmental anomalies of the vertebral bodies, or visceral malformations (horseshoe or ectopic kidney, utero-ovarian malformation, and anorectal malformation). We present three cases of fetal diastematomyelia investigated using a multimodal prenatal work-up (US, MRI, 3D-CT). The first case, detected at 20 weeks' gestation, had a lumbar meningocele. At 30 weeks' gestation, direct US visualization revealed the division of the spinal cord into two hemicords. This patient illustrates an isolated type II diastematomyelia with a favorable prognosis. The second case, detected at 22 weeks' gestation, presented with disorganization of bony process of the vertebral column with a midline echogenic bony spur, asymmetrical hemicords, and a foot malposition. Fetal MRI at 26 weeks' gestation and CT/3D reconstructed at 32 weeks' gestation confirmed a type I diastematomyelia with orthopedic malposition. The third case, detected at 22 weeks' gestation, presented with widening of the lumbar canal and scoliosis. Prenatal work-up (US, MRI) disclosed other visceral malformations (pelvic kidney), which led to the assumption of a complex polymalformative syndrome. The pregnancy was terminated. Fetopathologic examination disclosed even more visceral malformations (anal atresia and unicorn uterus).

Soft Tissue Repair with Easy-Accessible Autologous Newborn Placenta or Umbilical Cord Blood in Severe Malformations: A Primary Evaluation

PubMed Central

2017-01-01

Disrupted organogenesis leads to permanent malformations that may require surgical correction. Autologous tissue grafts may be needed in severe lack of orthotopic tissue but include donor site morbidity. The placenta is commonly discarded after birth and has a therapeutic potential. The aim of this study was to determine if the amnion from placenta or plasma rich of growth factors (PRGF) with mononuclear cells (MNC) from umbilical cord blood (UCB), collected noninvasively, could be used as bio-constructs for autologous transplantation as an easy-accessible no cell culture-required method. Human amnion and PRGF gel were isolated and kept in culture for up to 21 days with or without small intestine submucosa (SIS). The cells in the constructs showed a robust phenotype without induced increased proliferation (Ki67) or apoptosis (caspase 3), but the constructs showed decreased integrity of the amnion-epithelial layer at the end of culture. Amnion-residing cells in the SIS constructs expressed CD73 or pan-cytokeratin, and cells in the PRGF-SIS constructs expressed CD45 and CD34. This study shows that amnion and UCB are potential sources for production of autologous grafts in the correction of congenital soft tissue defects. The constructs can be made promptly after birth with minimal handling or cell expansion needed. PMID:29403534

Sleep disturbance: a forgotten syndrome in patients with Chiari I malformation.

PubMed

Ferré Masó, A; Poca, M A; de la Calzada, M D; Solana, E; Romero Tomás, O; Sahuquillo, J

2014-06-01

Chiari type I malformation (CM-I) is characterised by caudal ectopia of the cerebellar tonsils through the foramen magnum. This is associated with brain stem, high spinal cord, and cranial nerve compression phenomena. The most frequent symptoms are occipital headaches and dizziness. Less well-known symptoms are sleep disorders and nocturnal respiratory abnormalities. MEDLINE and information from patients evaluated at the Neurosurgery and Clinical Neurophysiology Departments at Hospital Universitario Vall d'Hebron. Review article based on data obtained from MEDLINE articles since 1966, using combinations of the following keywords: «Chiari malformation» or «Arnold-Chiari malformation» and «sleep apnea» or «sleep disorders». CM-I patients show a higher prevalence of sleep disorders than that observed in the general population. Some studies report a 50% prevalence of sleep apnea-hypopnea syndrome (SAHS), probably associated with sudden death in some cases. These results support analysing sleep respiratory parameters in theses patients. Identifying SAHS symptoms may help optimise treatment, thereby improving quality of life and prognosis. Copyright © 2010 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

Chiari Malformation

MedlinePlus

... Staying Safe Videos for Educators Search English Español Chiari Malformation KidsHealth / For Parents / Chiari Malformation What's in this ... balance problems, and other symptoms. What Is a Chiari Malformation? Normally, the cerebellum sits at the back of ...

Unusual Association: Cerebral Arteriovenous Malformation and Chiari Type I Malformation.

PubMed

Ogul, Hayri; Kantarci, Mecit

2017-06-01

Cerebral arteriovenous malformation (AVM) is a common type of cerebral vascular malformation. The imaging findings are enlarged vessels, thrombosed sinuses, and hemorrhage or gliosis on adjacent brain parenchyma. Magnetic resonance (MR) imaging can be used safely for diagnosis. Chiari type I malformation is characterized by a caudal descent of the cerebellar tonsil. Coincidence of cerebral AVM and Chiari type I malformation is very rare. In this paper, the authors report MR imaging findings of a patient with coincidence of cerebral AVM and Chiari type I malformation.

Congenital malformations induced by mescaline, lysergic acid diethylamide, and bromolysergic acid in the hamster.

PubMed

Geber, W F

1967-10-13

Malformations of the brain, spinal cord, liver, and other viscera; body edema; and localized hemorrhages were found in fetal hamsters from mothers injected subcutaneously with a single dose of mescaline, lysergic acid diethylamide, or 2-bromo-D lysergic acid diethylamide on the 8th day of pregnancy. In addition, all three drugs produced an increase in the percentages of small fetuses per litter, of resorptions, and of fetal mortality.

Amphibian malformations

USGS Publications Warehouse

,

1998-01-01

Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

Spinal Cord Lesions in Congenital Toxoplasmosis Demonstrated with Neuroimaging, Including Their Successful Treatment in an Adult.

PubMed

Burrowes, Delilah; Boyer, Kenneth; Swisher, Charles N; Noble, A Gwendolyn; Sautter, Mari; Heydemann, Peter; Rabiah, Peter; Lee, Daniel; McLeod, Rima

2012-03-01

Neuroimaging studies for persons in the National Collaborative Chicago-Based Congenital Toxoplasmosis Study (NCCCTS) with symptoms and signs referable to the spinal cord were reviewed. Three infants had symptomatic spinal cord lesions, another infant a Chiari malformation, and another infant a symptomatic peri-spinal cord lipoma. One patient had an unusual history of prolonged spinal cord symptoms presenting in middle age. Neuroimaging was used to establish her diagnosis and response to treatment. This 43 year-old woman with congenital toxoplasmosis developed progressive leg spasticity, weakness, numbness, difficulty walking, and decreased visual acuity and color vision without documented re-activation of her chorioretinal disease. At 52 years of age, spinal cord lesions in locations correlating with her symptoms and optic atrophy were diagnosed with 3 Tesla MRI scan. Treatment with pyrimethamine and sulfadiazine decreased her neurologic symptoms, improved her neurologic examination, and resolved her enhancing spinal cord lesions seen on MRI.

Occipital Neuralgia from C2 Cavernous Malformation

PubMed Central

Ha, Sang-woo; Choi, Jin-gyu; Son, Byung-chul

2018-01-01

A unique case is presented of chronic occipital neuralgia (ON) caused by cavernous malformation (CM) in the intramedullary C2 spinal cord and subsequent pain relief and remodeling of allodynic pain following dorsal root rhizotomy. A 53-year-old male presented with a 30-year history of chronic allodynic, paroxysmal lancinating pain in the greater and lesser occipital nerves. Typically, the pain was aggravated with neck extension and head movement. Magnetic resonance imaging showed a CM in the right posterolateral side of the intramedullary C2 cord. Considering potential risks associated with removal of the lesion, intradural C1-3 dorsal root rhizotomy with dentate ligament resection was performed. The paroxysmal lancinating pain of ON was significantly alleviated, and the remodeling of the extent of allodynic pain was noted after C1-3 dorsal root rhizotomy. These changes gradually occurred during the second postoperative month, and this effect was maintained for 24 months postoperatively. Significant reduction in chronic allodynic pain of secondary ON caused by cervicomedullary CM involving central sensitization in the trigeminocervical complex was observed with reduction of irritating, afferent input with C1-C3 dorsal root rhizotomy. PMID:29682056

Occipital Neuralgia from C2 Cavernous Malformation.

PubMed

Ha, Sang-Woo; Choi, Jin-Gyu; Son, Byung-Chul

2018-01-01

A unique case is presented of chronic occipital neuralgia (ON) caused by cavernous malformation (CM) in the intramedullary C2 spinal cord and subsequent pain relief and remodeling of allodynic pain following dorsal root rhizotomy. A 53-year-old male presented with a 30-year history of chronic allodynic, paroxysmal lancinating pain in the greater and lesser occipital nerves. Typically, the pain was aggravated with neck extension and head movement. Magnetic resonance imaging showed a CM in the right posterolateral side of the intramedullary C2 cord. Considering potential risks associated with removal of the lesion, intradural C1-3 dorsal root rhizotomy with dentate ligament resection was performed. The paroxysmal lancinating pain of ON was significantly alleviated, and the remodeling of the extent of allodynic pain was noted after C1-3 dorsal root rhizotomy. These changes gradually occurred during the second postoperative month, and this effect was maintained for 24 months postoperatively. Significant reduction in chronic allodynic pain of secondary ON caused by cervicomedullary CM involving central sensitization in the trigeminocervical complex was observed with reduction of irritating, afferent input with C1-C3 dorsal root rhizotomy.

The defense mechanism of splitting: developmental origins, effects on staff, recommendations for nursing care.

PubMed

Carser, D

1979-03-01

Splitting as a predominant defense mechanism is used by a large number of people. It is characterized by projection of good and bad qualities onto people in the environment and malformed ego functioning. Nurses need to understand the developmental origins, formation of ego deficits and defense mechanism of splitting so that they can care for these people. Effective nursing care is dependent on leadership which anticipates splitting, maintains a cohesive staff group and intervenes appropriately. Limit setting provides the most effective treatment modality as it supplies the missing internal function of the deficient ego. With this use of limit setting staff will prevent splitting and foster socially acceptable behavior. This will have a dual effect of beginning ego reconstruction and increasing self-esteem for the patient and treatment success for the staff.

Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation.

PubMed

Moore, Hannah E; Moore, Kevin R

2014-11-01

Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords "Chiari" and "Chiari 1" to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation

Crossed reciprocal inhibition evoked by electrical stimulation of the lamprey spinal cord.

PubMed

Fagerstedt, P; Zelenin, P V; Deliagina, T G; Orlovsky, G N; Grillner, S

2000-09-01

Activation of a motoneuron pool is often accompanied by inhibition of the antagonistic pool through a system of reciprocal inhibition between the two parts of the neuronal network controlling the antagonistic pools. In the present study, we describe the activity of such a system in the isolated spinal cord of the lamprey, when a tonic motor output is evoked by extracellular stimulation (0.5-1 s train of pulses, 20 Hz) of either end of the spinal cord. With two electrodes symmetrically positioned in relation to the midline, stimulation with either of them separately elicited prolonged (1-5 s) ipsilateral ventral root activity. Activity could be abolished by stronger, simultaneously applied, stimulation of the contralateral side of the cord, suggesting that reciprocal inhibition between hemisegments operates when a tonic motor output is generated. Simultaneous stimulation of both sides of the spinal cord with a single electrode with a large tip (300-400 microm in diameter), positioned over the anatomical midline, elicited inconsistent right-side, leftside, or bilateral ventral root responses. A minor displacement (10-20 microm) to the left or right from the midline resulted in activation of ipsilateral motoneurons, whereas the contralateral motoneurons were silent. These findings indicate that a small asymmetry in the excitatory drive to the left and right spinal hemisegments can be further amplified by reciprocal inhibition between the hemisegments. Longitudinal splitting of the spinal cord along the midline resulted in reduced reciprocal inhibition between the hemisegments separated by the lesion. The reduction was proportional to the extent of the split. The inhibition was abolished when the split reached nine segments in length. From these experiments, the longitudinal distribution of the commissural axons responsible for inhibition of contralateral motor output could be estimated.

Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management

PubMed Central

Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.

2010-01-01

Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension. PMID:20440631

RADIATION MALFORMATIONS BELONGING TO THE CYCLOPIA-ARRHINENCEPHALIA- OTECEPHALIA GROUP IN THE MOUSE FETUS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Marakami, U.; Kameyana, Y.; Majima, A.

1962-03-01

Pregnant mice on the 8.5th day of gestation were subjected to 200-r whole-body irradiation and the fetuses were examined on the l3th to l9th day of gestation. Incidence of fetal death (23.0%) was much higher than in the controls (8.2%1, and malformations of the nose, eyes, and ears cecurred in 32%. These malformations included alterations leading to a beaklike snout (19%), a univentricular telencephalon with cyclopia (6%), and forms transitional between these two (6%). These malformations were specific for irradiation on the 8.5th day of gestation; in previous studies they were not prominent when irradiation was carried out on themore » 8th, lOth, or llth day. During this most sensitive developmental stsge at 8.5 days, 3 to 5 brain vesicles are formed and the anterior neuropore is closed, which may account for the greater effect of teratogenic agents on the central nervous system at this time. Other abnormalities included exencephalia 12%), hydrocephalus (4%), microcephalia 10.7%), abnormally shaped head (5%), spinal cord anomalies (6%), eye anomalies (29%1, harelip and cleft palate (12%), tail abnormalities (6%), and thoraco- abdominal hernia (5%). (H.H.D.)« less

RADIATION MALFORMATIONS BELONGING TO THE CYCLOPIA-ARRHINECEPHALIA- OCTOCEPHALIA GROUP IN THE MOUSE FETUS

DOE Office of Scientific and Technical Information (OSTI.GOV)

Murakami, U.; Kameyama, Y.; Majima, A.

1962-03-01

Pregnant mice on the 8 1/2th day of gestation were subjected to 200 r whole-body irradiation and the fetuses were examined on the l3th to l9th day of gestation. Incidence of fetal death (23.0%) was much higher than in the controls (8.2%), and malformations of the nose, eyes, and ears occurred in 32%. These malformations included alterations leading to a beaklike snout (19%), a univentricular telencephalon with cyclopia (6%), and fomas transitional between these two (6%). These malformations were specific for irradiation on the 8 1/2th day of gestation. In previous studies they were not prominent when irradiation was carriedmore » out on the 8th, l0th, or llth day. During this most sensitive developmental stage at 8 1/2 days, 3 to 5 brain vesicles are formed and the anterior neuropore is closed, which may account for the greater effect of teratogenic agents on the central nervous system at this time. Other abnormalities included exencephalia (2%), hydrocephalus (4%), microcephalia (0.7%), abnormally shaped head (5%), spinal cord anomalies (6%), eye anomalies (29%), harelip and cleft palate (l2%), tail abnormalities (6%), and thoraco- abdominal hennia (5%). (H.H.D.)« less

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

PubMed Central

Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A.; Sykiotis, Gerasimos P.; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

2014-01-01

Purpose Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising CHH and SHFM. Methods We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions, and/or functional assays. Results We identified 8 probands with CHH with (n=3, Kallmann Syndrome) or without anosmia (n=5) and SHFM, 7 of whom (88%) harbor FGFR1 mutations: one individual is homozygous for p.V429E; six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, and p.L712P. All mutations were predicted to be loss-of-function by in silico analysis. Probands with FGFR1 mutations have severe GnRH deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was only observed in the patient with the homozygous p.V429E mutation; V429 maps to the FRS2α binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of FRS2α to FG FR 1 , thereby resulting in reduced MAPK signaling. Conclusion FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM, because the likelihood of a mutation increases from 10% in the general CHH population to 88%. PMID:25394172

A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

PubMed

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

2014-01-01

Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. © 2014 American College of Veterinary Radiology.

Distribution of syringomyelia along the entire spinal cord in clinically affected Cavalier King Charles Spaniels.

PubMed

Loderstedt, Shenja; Benigni, Livia; Chandler, Kate; Cardwell, Jacqueline M; Rusbridge, Clare; Lamb, Christopher R; Volk, Holger A

2011-12-01

Chiari-like malformation (CM) and syringomyelia (SM) is an important disease complex in the Cavalier King Charles Spaniel (CKCS) but data about the anatomical distribution of SM along the spinal cord are lacking in veterinary medicine. The objective of this study was to define the anatomic distribution of SM in CKCS clinically affected by CM/SM. Magnetic resonance imaging (MRI) of the brain and the entire spinal cord of 49 dogs was performed and different morphological parameters compared. Syrinx formation was present in the C1-C4 region and in other parts of the spinal cord. The maximal dorsoventral syrinx size can occur in any region of the spinal cord and the total syrinx size was positively correlated with age. Seventy-six per cent of CKCS with a cranial cervical syrinx also have a syrinx affecting more caudal spinal cord regions. MRI restricted to the cervical region may underestimate the extent of SM and the severity of the disease process in the majority of dogs. Copyright © 2010 Elsevier Ltd. All rights reserved.

Spinal dural arteriovenous fistulas: the most frequent vascular malformations of the spinal cord.

PubMed

Iglesias Gordo, J; Martínez García, R

Spinal dural arteriovenous fistulas are produced by direct communication between the arterial and venous systems of the spinal cord, causing hypertension in the latter with spinal cord dysfunction. It is a rare pathology with unknown etiology and non-specific clinical symptoms that usually results in a delayed diagnosis. Often radiologists are the first to guide the disease towards an adequate diagnosis. Characteristic findings can be seen through MR or MR angiography, and may even locate the fistula in a high percentage of cases, although the pathology must be confirmed by spinal angiography. There are two treatment modalities: endovascular and surgical therapy. Endovascular treatment has improved in recent years with the advantages of a less invasive approach and is therefore usually chosen as primary therapy. In this article we review the main clinical manifestations, imaging findings and treatment of this pathology. Copyright © 2017 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

[Polythelia and renal malformation].

PubMed

Jójárt, G; Seres, E

1992-07-12

The authors found 241 polythelia (5.86) among 4113 schoolchildren (aged 6-14 years). They investigated 236 of the 241 with ultrasound and found 10 renal malformations (4.24%). Among 280 controls with respiratory infection, accident or tonsillectomy they found 9 renal malformations (3.21%). With screening of 1635 neonates they found 66 with accessory nipples (4.05%). Two of the 66 had renal malformations (3.03%), while among the 1957 control neonates 37 had renal malformations (1.89%). In the hospital and ambulancy the authors found 106 polythelia, five of them had renal abnormalities (4.72%). The authors did not found association of polythelia and renal malformation with ultrasound investigation of 408 children with polythelia.

A regional survey of malformed frogs in Minnesota (USA) (Minnesota malformed frogs).

PubMed

Vandenlangenberg, Susan M; Canfield, Jeffrey T; Magner, Joseph A

2003-02-01

In late 1995, school children discovered malformed frogs in a south central Minnesota pond. Press coverage resulted in numerous citizen reports of frog malformation across Minnesota in 1996. After some initial site investigation, 3 affected frog sites and 4 nearby reference sites were selected for more detailed evaluation. Field biologists made 89 visits to study sites beginning spring 1997 through fall 1999 to examine the number and type of frog malformations. Over 5,100 Leopard frogs (Rana pipiens) were captured and examined at all study sites. Water elevations and associated littoral inundation were recorded from 1997-2000. Results indicate that malformation occurred at all study sites above historical background levels. Rana pipiens malformation across all sites over three seasons averaged 7.9% and ranged from 0 to 7% at reference sites and 4 to 23% at affected sites. At one northern Minnesota site, mink frog (Rana septentrionalis) malformation was 75% in 1998. A site characteristic common to the most affected sites was an elastic zone of littoral inundation. Climate driven hydrologic variation likely influenced water depth and associated breeding locations.

Vascular malformations: an update.

PubMed

Gloviczki, Peter; Duncan, Audra; Kalra, Manju; Oderich, Gustavo; Ricotta, Joseph; Bower, Thomas; McKusick, Michael; Bjarnason, Haraldur; Driscoll, David

2009-06-01

Vascular malformations occur as a result of an arrest in the development of the vascular system. The modified Hamburg classification distinguishes arterial, venous, arteriovenous, capillary, lymphatic, and mixed vascular malformations. Each malformation is further subdivided based on anatomy and on the time when arrest in development of the embryogenesis occurred; malformations can be truncular or extratruncular. Progress in the last decade in management has been significant because of improvements in open surgical procedures and perfection of percutaneous and hybrid endovascular interventions and devices, such as balloons, stents, and stent-grafts. There has been increasing use of embolization for the treatment of malformations with coils, other particles, glue, or with endovascular placement of occlusive plugs. Absolute alcohol, detergent liquids, or foam have been used for sclerotherapy with improved efficacy. The agents are delivered percutaneously or through a catheter placed either into the feeding arteries or the draining veins. This review aims to aid vascular and endovascular specialists in staying familiar with vascular malformations. These specialists need to be able to evaluate the patients, perform treatment if appropriate, or refer complex cases to multidisciplinary vascular malformation clinics and vascular centers.

Experimental studies on the tensile properties of human umbilical cords.

PubMed

Tantius, Britta; Rothschild, Markus A; Valter, Markus; Michael, Joern; Banaschak, Sibylle

2014-03-01

When tried in court, mothers accused of neonaticide may claim that the umbilical cord just broke during birth and the newborn child bled to death accordingly. To evaluate the possibility of a breakage of the umbilical cord is the goal of this work. Therefore 25 umbilical cords from neonates of both sexes born at term were stretched using an electrically operated material testing machine and the energy necessary to break them was measured. This experimental set-up equals a static strain, not a dynamic one. The maximum force endured (F max) ranged from 37.24 N to 150.04 N. The average force endured was 79.87 N with a standard deviation of 27.39. The elongation at break varied from 13.24% to a maximum of 119.93%. We found no relationship between the force endured and any of the following parameters: birth weight, pH of the venous umbilical blood, diameter of cord, free length under testing, duration of pregnancy or the mother's age. We performed a literature research and tried to define the circumstances in which a break is more likely to occur, these being malformations, entanglement or disease, e.g. inflammation. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Three-dimensional HDlive imaging of an umbilical cord cyst.

PubMed

Inubashiri, Eisuke; Nishiyama, Naomi; Tatedo, Sayuri; Minami, Hiina; Saitou, Atushi; Watanabe, Yukio; Sugawara, Masaki

2018-04-01

Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis. A case with an abnormal placental mass at 16 weeks and 5 days of gestation was observed in detail using HDlive. HDlive revealed very realistic images of the intrauterine abnormality: the oval lesion was smooth with regular contours and a homogenous wall at the site of cord insertion on the placenta. In addition, we confirmed the absent of umbilical cord, placental, and fetal structural anomalies. Here, we report a case wherein HDlive may have provided clinically valuable information for prenatal diagnosis of UCC and offered a potential advantage relative to the conventional US.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

PubMed

Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A; Sykiotis, Gerasimos P; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

2015-08-01

Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two. We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions and/or functional assays. We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM, seven of whom (88%) harbor FGFR1 mutations. Of these seven, one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin-releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2α binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2α to FGFR1, thereby resulting in reduced mitogen-activated protein kinase signaling. FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.

Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

PubMed

Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

2010-02-01

Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.

PubMed

Siddesh, Anjurani; Gupta, Geetika; Sharan, Ram; Agarwal, Meenal; Phadke, Shubha R

2017-04-01

Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings. This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings. Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%). Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

Surgical management of venous malformations.

PubMed

Loose, D A

2007-01-01

Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

Acute Presentation of Chiari I Malformation with Hemiparesis in a Pediatric Patient.

PubMed

Miranda, Stephen P; Kimmell, Kristopher T; Silberstein, Howard J

2016-01-01

Chiari I malformation (CM-I) is defined by cerebellar tonsillar herniation through the foramen magnum. Patients typically present with chronic complaints, including headache, dizziness, and numbness, although there are few reports in the literature of pediatric patients presenting acutely with neurological deficit caused by CM-I. We report a child who presented acutely with hemiparesis and magnetic resonance imaging findings consistent with CM-I and spinal cord edema. A 3-year old boy with normal development presented with difficulty walking and increased drooling. His mother stated he was running into objects and had balance issues for several days. Neurological examination showed ataxia with falling to the right after a few steps and weakness of the right arm and leg. His medical history was remarkable only for mild asthma, although he had recently been treated for an upper respiratory viral infection. Computed tomography of the head demonstrated no brainstem mass. Magnetic resonance imaging of the head and cervical spine showed tonsillar ectopia approximately 2 cm below the craniocervical junction with increased T2 signal in the spinal cord from C1 to C3 consistent with syringomyelia and cord edema. The patient underwent suboccipital craniectomy with removal of the posterior arch of C1 and dural patch graft. His postoperative course was unremarkable, with complete resolution of his symptoms at his 1-month follow-up visit. This case highlights an unusual presentation of CM-I with neurological deficit related to spinal cord edema, possibly precipitated by the "water-hammer" effect of this patient's coughing fits. Providers should be aware of the acute presentations of CM-I. Copyright © 2016 Elsevier Inc. All rights reserved.

Bendectin and human congenital malformations.

PubMed

Shiono, P H; Klebanoff, M A

1989-08-01

The relationship between Bendectin exposure during the first trimester of pregnancy and the occurrence of congenital malformations was prospectively studied in 31,564 newborns registered in the Northern California Kaiser Permanente Birth Defects Study. The odds ratio for any major malformation and Bendectin use was 1.0 (95% confidence interval 0.8-1.4). There were 58 categories of congenital malformations; three of them were statistically associated with Bendectin exposure (microcephaly--odds ratio = 5.3, 95% confidence interval = 1.8-15.6; congenital cataract--odds ratio = 5.3, 95% confidence interval = 1.2-24.3; lung malformations (ICD-8 codes 484.4-484.8)--odds ratio = 4.6, 95% confidence interval = 1.9-10.9). This is exactly the number of associations that would be expected by chance. An independent study (the Collaborative Perinatal Project) was used to determine whether vomiting during pregnancy in the absence of Bendectin use was associated with these three malformations. Two of the three (microcephaly and cataract) had strong positive associations with vomiting in the absence of Bendectin use. We conclude that there is no increase in the overall rate of major malformations after exposure to Bendectin and that the three associations found between Bendectin and individual malformations are unlikely to be causal.

Evidence that the notochord may be pivotal in the development of sacral and anorectal malformations.

PubMed

Qi, Bao Quan; Beasley, Spencer W; Frizelle, Francis A

2003-09-01

The notochord is known to organize normal development of central axial structures, such as the spinal cord, vertebral column, and anorectum, but its role in abnormal development of these organs has not been well documented. The current study has used Ethylenethiourea to induce anorectal malformations in fetal rats, allowing investigation of abnormalities of the notochord and their relationship to the axial structural abnormalities that occur. Timed-mated pregnant rats were fed Ethylenethiourea by gavage on gestational day 10. Their embryos were harvested on gestational days 13 to 16 and sectioned in either the transverse or sagittal plane. Sections were stained with H and E and examined serially. Anorectal malformations were identified in 29 of 34 embryos and neural tube defects in 24, ranging from an accessory neural tube to lumbo-sacral rachischisis. There was no tail or only a rudimentary tail in the majority of embryos. Abnormalities of the notochord in the lumbo-sacral area included ventro-dorsal branching, ventral deviation, and ectopic notochordal tissue. Most abnormal notochord branches and ectopic notochordal tissue were abnormally close to or in contact with the wall of the cloaca or neural tube. Given the known role of the notochord in controlling normal development, this study would suggest that abnormal notochord development may be pivotal in producing neural tube defects and anorectal malformations, possibly by altering sonic hedgehog signalling.

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

PubMed Central

Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.

2012-01-01

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM. PMID:27625812

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

PubMed

Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

2012-06-01

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

Diagnosis of Schmallenberg virus infection in malformed lambs and calves and first indications for virus clearance in the fetus.

PubMed

De Regge, Nick; van den Berg, Thierry; Georges, Laura; Cay, Brigitte

2013-03-23

Since mid-December 2011, samples from malformed lambs and calves are sent to CODA-CERVA in Belgium for diagnosis of Schmallenberg virus (SBV), a novel Orthobunyavirus that was first detected by researchers of the Friedrich-Loeffler-Institut (FLI, Germany) in German cattle in autumn 2011 and was later shown to be involved in congenital malformations in lambs, goat kids and calves. Surprisingly, by making use of real time RT-PCR (rRT-PCR) assays developed by the FLI, presence of SBV RNA could only be confirmed in part of the SBV suspected newborns examined. To investigate possible causes for non-confirmation by rRT-PCR, a comparative analysis between different organs and tissues (cerebrum, cerebellum, brain stem, spinal cord, thymus, spleen, lymph nodes, meconium) originating from respectively 90 and 81 malformed lambs and calves was undertaken. Furthermore, thoracic fluids of respectively 55 malformed lambs and calves were examined by a virus neutralization test (VNT) to evaluate the presence of neutralizing anti-SBV antibodies in these animals. Our results show that among the different organs tested by rRT-PCR, brain stem material is the most appropriate tissue for SBV detection while it could also be detected in all other tissues but to a more variable degree. The VNT test showed that 95% of the malformed lambs were positive for anti-SBV neutralizing antibodies while this was only the case for 44% of malformed calves. These immunological data suggest that a humoral immune response could assist in the clearance of SBV from the fetus during gestation and that SBV specific antibody testing should be considered together with rRT-PCR analysis for confirmation of SBV infection. Copyright © 2012 Elsevier B.V. All rights reserved.

Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

PubMed

Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

2016-01-01

We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts.

Brainstem and cerebellar cavernous malformations.

PubMed

Atwal, Gursant S; Sarris, Christina E; Spetzler, Robert F

2017-01-01

Cavernous malformations are vascular lesions that occur throughout the central nervous system, most commonly in the supratentorial location, with brainstem and cerebellar cavernous malformations occurring more rarely. Cavernous malformations are associated with developmental venous anomalies that occur sporadically or in familial form. Patients with a cavernous malformation can present with headaches, seizures, sensorimotor disturbances, or focal neurologic deficits based on the anatomic location of the lesion. Patients with infratentorial lesions present more commonly with a focal neurologic deficit. Cavernous malformations are increasingly discovered incidentally due to the increasing use of magnetic resonance imaging. Understanding the natural history of these lesions is essential to their management. Observation and surgical resection are both reasonable options in the treatment of patients with these lesions. The clinical presentation of the patient, the location of the lesion, and the surgical risk assessment all play critical roles in management decision-making. © 2017 Elsevier B.V. All rights reserved.

Congenital heart defects and extracardiac malformations.

PubMed

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

2013-06-01

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

Cerebellar and Brainstem Malformations.

PubMed

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

2016-08-01

The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of cerebellar and brainstem malformations has been shown. Familiarity with the spectrum of cerebellar and brainstem malformations and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. This article discusses cerebellar and brainstem malformations, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and recurrence. Copyright © 2016 Elsevier Inc. All rights reserved.

Pediatric neuroanesthesia. Arteriovenous malformations.

PubMed

Newfield, P; Hamid, R K

2001-06-01

Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures.

Is early cord clamping, delayed cord clamping or cord milking best?

PubMed

Vatansever, Binay; Demirel, Gamze; Ciler Eren, Elif; Erel, Ozcan; Neselioglu, Salim; Karavar, Hande Nur; Gundogdu, Semra; Ulfer, Gozde; Bahadir, Selcen; Tastekin, Ayhan

2018-04-01

To compare the antioxidant status of three cord clamping procedures (early clamping, delayed clamping and milking) by analyzing the thiol-disulfide balance. This randomized controlled study enrolled 189 term infants who were divided into three groups according to the cord clamping procedure: early clamping, delayed clamping and milking. Blood samples were collected from the umbilical arteries immediately after clamping, and the thiol/disulfide homeostasis was analyzed. The native and total thiol levels were significantly (p < .05) lower in the early cord clamping group compared with the other two groups. The disulfide/total thiol ratio was significantly (p = .026) lower in the delayed cord clamping and milking groups compared with the early clamping groups. Early cord clamping causes the production of more disulfide bonds and lower thiol levels, indicating that oxidation reactions are increased in the early cord clamping procedure compared with the delayed cord clamping and milking procedures. The oxidant capacity is greater with early cord clamping than with delayed clamping or cord milking. Delayed cord clamping or milking are beneficial in neonatal care, and we suggest that they be performed routinely in all deliveries.

Headache in children with Chiari I malformation.

PubMed

Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

2014-05-01

Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (<5 mm, N = 12), mild (5-9 mm, N = 27), and severe tonsillar ectopia (≥10 mm, N = 6), respectively. Twenty-four out of 33 (73%) cases with Chiari 1 malformation complained of headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

[Advances in congenital vertebral malformation caused by genomic copy number variation].

PubMed

Liu, Zhenlei; Wu, Nan; Wu, Zhihong; Zuo, Yuzhi; Qiu, Guixing

2016-04-01

Congenital vertebral malformation (CVM) is a congenital vertebral structural deformity caused by abnormal somitogenesis during embryonic development, of which the reason lies in gene mutation or abnormal regulation of the genes that coordinate somitogenesis during embryonic period. ICVAS had proposed a new classification algorithm for CVM, which facilitated exploration for its genetic etiology. Genomic Copy Number Variation (CNV) is a kind of DNA mutation, which is important for human evolution, phenotype polymorphism and diseases. Series of advances have been made on genetic causes of CVM, especially on CVM caused by CNV. CNVs of chromosome 16p11.2, 10q24.31, 17p11.2, 20p11, 22q11.2 and a few other regions are associated with CVM, indicating that gene dosage may play important roles in the development of the spinal cord.

[Focus on Dandy-Walker malformation].

PubMed

Klein, O; Pierre-Kahn, A

2006-09-01

The aim of this review is to summarize our knowledge about Dandy-Walker malformation (DWM) and introduce recent notions about its prognosis. DWM is a malformation associating hypoplasia of the vermis, pseudocystic fourth ventricle, upward displacement of the tentorium, torcular and lateral sinuses and anterio-posterior enlargement of the posterior fossa. It is frequently associated with genetic anomalies, brain malformations (anomalies of gyration, grey matter heterotopias, meningoceles, corpus callosum agenesis...) or systemic malformations (heart, orthopedic, intestinal, urogenital and facial anomalies). It is also part of many syndromes. Its rarity, the difficulty of its diagnosis, the fact that the malformation is mainly known through hospitalized patients, mainly from neurosurgical departments, have made its definition variable and prevents us from having an accurate knowledge of its natural history and prognosis. Hydrocephalus, so frequent in neurosurgical series that some have included it in the definition, is actually rare as has been seen in prenatal series. Treatment, when necessary, is still controversial, the main options remaining cyst fenestration, ventriculo- and/or cystoperitoneal shunts and more recently endoscopic third ventriculostomy. The prognosis, commonly said to be unpredictable, is actually foreseeable after scrutinous observation of the brain anatomy, and mainly of the vermis. A cerebellar vermis with three groups of lobes and two main fissures, as identified on MRI T2 sagittal views, not only has the greatest chance to not be associated with other malformation but also to have a favorable neurocognitive outcome. On the contrary, a deeply dysgenetic vermis with only two or one recognizable lobes is not only constantly associated with other brain malformation but also with poor prognosis. This is a recent advance that may be important for those involved in prenatal counselling.

Spectrum of Spinal Cord, Spinal Root, and Brain MRI Abnormalities in Congenital Zika Syndrome with and without Arthrogryposis.

PubMed

Aragao, M F V V; Brainer-Lima, A M; Holanda, A C; van der Linden, V; Vasco Aragão, L; Silva Júnior, M L M; Sarteschi, C; Petribu, N C L; Valença, M M

2017-05-01

Arthrogryposis is among the malformations of congenital Zika syndrome. Similar to the brain, there might exist a spectrum of spinal cord abnormalities. The purpose of this study was to explore and describe in detail the MR imaging features found in the spinal cords, nerve roots, and brains of children with congenital Zika syndrome with and without arthrogryposis. Twelve infants with congenital Zika syndrome (4 with arthrogryposis and 8 without) who had undergone brain and spinal cord MR imaging were retrospectively selected. Qualitative and quantitative analyses were performed and compared between groups. At visual inspection, both groups showed reduced thoracic spinal cord thickness: 75% (6/8) of the group without arthrogryposis and 100% (4/4) of the arthrogryposis group. However, the latter had the entire spinal cord reduced and more severely reduced conus medullaris anterior roots (respectively, P = .002 and .007). Quantitative differences were found for conus medullaris base and cervical and lumbar intumescences diameters (respectively, P = .008, .048, .008), with more prominent reduction in arthrogryposis. Periventricular calcifications were more frequent in infants with arthrogryposis ( P = .018). Most infants had some degree of spinal cord thickness reduction, predominant in the thoracic segment (without arthrogryposis) or in the entire spinal cord (with arthrogryposis). The conus medullaris anterior roots were reduced in both groups (thinner in arthrogryposis). A prominent anterior median fissure of the spinal cord was absent in infants without arthrogryposis. Brain stem hypoplasia was present in all infants with arthrogryposis, periventricular calcifications, in the majority, and polymicrogyria was absent. © 2017 by American Journal of Neuroradiology.

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

PubMed

Lezirovitz, Karina; Maestrelli, Sylvia Regina Pedrosa; Cotrim, Nelson Henderson; Otto, Paulo A; Pearson, Peter L; Mingroni-Netto, Regina Celia

2008-07-01

Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

A spinal thecal sac constriction model supports the theory that induced pressure gradients in the cord cause edema and cyst formation.

PubMed

Josephson, A; Greitz, D; Klason, T; Olson, L; Spenger, C

2001-03-01

Spinal cord cysts are a devastating condition that occur secondary to obstructions of the spinal canal, which may be caused by congenital malformations, trauma, spinal canal stenosis, tumors, meningitis, or arachnoiditis. A hypothesis that could explain how spinal cord cysts form in these situations has been presented recently. Therefore, a novel spinal thecal sac constriction model was implemented to test various aspects of this hypothesis. Thecal sac constriction was achieved by subjecting rats to an extradural silk ligature at the T8 spinal cord level. Rats with complete spinal cord transection served as a second model for comparison. The animals underwent high-resolution magnetic resonance imaging and histological analysis. Thecal sac constriction caused edema cranial and caudal to the ligation within 3 weeks, and cysts developed after 8 to 13 weeks. In contrast, cysts in rats with spinal cord transection were located predominantly in the cranial spinal cord. Histological sections of spinal cords confirmed the magnetic resonance imaging results. Magnetic resonance imaging provided the specific advantage of enabling characterization of events as they occurred repeatedly over time in the spinal cords of individual living animals. The spinal thecal sac constriction model proved useful for investigation of features of the cerebrospinal fluid pulse pressure theory. Edema and cyst distributions were in accordance with this theory. We conclude that induced intramedullary pressure gradients originating from the cerebrospinal fluid pulse pressure may underlie cyst formation in the vicinity of spinal canal obstructions and that cysts are preceded by edema.

Neuro-ophthalmology of type 1 Chiari malformation

PubMed Central

Shaikh, Aasef G.; Ghasia, Fatema F.

2016-01-01

Chiari malformation is a congenital deformity leading to herniation of cerebellar tonsils. Headache is a typical symptom of this condition, but patients with Chiari malformation often present with double vision and vertigo. Examination of eye movements in such patients often reveals nystagmus and strabismus. Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. We will review eye movement deficits that seen in patients with type 1 Chiari malformation. We will then discuss the underlying pathophysiology and therapeutic options for such deficits. PMID:26843890

A developmental classification of malformations of the brainstem.

PubMed

Barkovich, A James; Millen, Kathleen J; Dobyns, William B

2007-12-01

With advances in imaging and genetics, malformations of the brainstem are being more commonly identified. We describe and classify brainstem anomalies in 138 patients ascertained over a period of 10 years Magnetic resonance imaging studies and, where available, clinical records of the patients were retrospectively reviewed. Malformations were segregated according to magnetic resonance findings and classified when possible by embryological mechanisms The most common location for anomalies was the pons, which was involved in 114 patients. The midbrain was involved in 45 patients, whereas the medulla was involved in 14. In 53 patients, more than 1 region was affected (all 3 regions in 6 patients, midbrain and pons in 39, and medulla and pons in 8). The malformations were divided into four groups: (1) malformations with abnormal brainstem segmentation, (2) malformations with segmental hypoplasia, (3) postsegmentation malformations, and (4) malformations associated with abnormal cortical organization The malformations of the brainstem identified in this study were diverse and complex. This proposed classification organizes them into groupings based on known genetics and embryological events. Use of this system will help clinicians and scientists to better understand these disorders and, ultimately, to better counsel families of affected patients.

Associated malformations among infants with anophthalmia and microphthalmia.

PubMed

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

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Chiari I malformation with and without basilar invagination: a comparative study.

PubMed

Klekamp, Jörg

2015-04-01

Chiari I malformation is the most common craniocervical malformation. Its combination with basilar invagination in a significant proportion of patients is well established. This study presents surgical results for patients with Chiari I malformation with and without additional basilar invagination. Three hundred twenty-three patients underwent 350 operations between 1985 and 2013 (mean age 43 ± 16 years, mean history of symptoms 64 ± 94 months). The clinical courses were documented with a score system for individual neurological symptoms for short-term results after 3 and 12 months. Long-term outcomes were analyzed with Kaplan-Meier statistics. The mean follow-up was 53 ± 58 months (the means are expressed ± SD). Patients with (n = 46) or without (n = 277) basilar invagination in addition to Chiari I malformation were identified. Patients with invagination were separated into groups: those with (n = 31) and without (n = 15) ventral compression by the odontoid in the foramen magnum. Of the 350 operations, 313 dealt with the craniospinal pathology, 28 surgeries were undertaken for degenerative diseases of the cervical spine, 3 were performed for hydrocephalus, and 6 syrinx catheters were removed for cord tethering. All craniospinal operations included a foramen magnum decompression with arachnoid dissection, opening of the fourth ventricle, and a duraplasty. In patients without invagination, craniospinal instability was detected in 4 individuals, who required additional craniospinal fusion. In patients with invagination but without ventral compression, no stabilization was added to the decompression. In all patients with ventral compression, craniospinal stabilization was performed with the foramen magnum decompression, except for 4 patients with mild ventral compression early in the series who underwent posterior decompression only. Among those with ventral compression, 9 patients with caudal cranial nerve dysfunctions underwent a combination of transoral

Rare malformation of glans penis: arteriovenous malformation.

PubMed

Akin, Y; Sarac, M; Yucel, S

2013-01-01

Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

StackSplit - a plugin for multi-event shear wave splitting analyses in SplitLab

NASA Astrophysics Data System (ADS)

Grund, Michael

2017-04-01

The SplitLab package (Wüstefeld et al., Computers and Geosciences, 2008), written in MATLAB, is a powerful and widely used tool for analysing seismological shear wave splitting of single event measurements. However, in many cases, especially temporary station deployments close to seaside or for recordings affected by strong anthropogenic noise, only multi-event approaches provide stable and reliable splitting results. In order to extend the original SplitLab environment for such analyses, I present the StackSplit plugin that can easily be implemented within the well accepted main program. StackSplit grants easy access to several different analysis approaches within SplitLab, including a new multiple waveform based inversion method as well as the most established standard stacking procedures. The possibility to switch between different analysis approaches at any time allows the user for the most flexible processing of individual multi-event splitting measurements for a single recording station. Besides the provided functions of the plugin, no other external program is needed for the multi-event analyses since StackSplit performs within the available SplitLab structure.

[Lymphatic malformations in the head and neck area].

PubMed

Wiegand, S; Werner, J A

2016-02-01

Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies.

Dandy-Walker Malformation Presenting with Psychological Manifestations

PubMed Central

Dahanayake, Dulangi Maneksha Amerasinghe

2016-01-01

Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

Dandy-Walker Malformation Presenting with Psychological Manifestations.

PubMed

Rohanachandra, Yasodha Maheshi; Dahanayake, Dulangi Maneksha Amerasinghe; Wijetunge, Swarna

2016-01-01

Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.

StackSplit - a plugin for multi-event shear wave splitting analyses in SplitLab

NASA Astrophysics Data System (ADS)

Grund, Michael

2017-08-01

SplitLab is a powerful and widely used tool for analysing seismological shear wave splitting of single event measurements. However, in many cases, especially temporary station deployments close to the noisy seaside, ocean bottom or for recordings affected by strong anthropogenic noise, only multi-event approaches provide stable and reliable splitting results. In order to extend the original SplitLab environment for such analyses, I present the StackSplit plugin that can easily be implemented within the well accepted main program. StackSplit grants easy access to several different analysis approaches within SplitLab, including a new multiple waveform based inversion method as well as the most established standard stacking procedures. The possibility to switch between different analysis approaches at any time allows the user for the most flexible processing of individual multi-event splitting measurements for a single recording station. Besides the provided functions of the plugin, no other external program is needed for the multi-event analyses since StackSplit performs within the available SplitLab structure which is based on MATLAB. The effectiveness and use of this plugin is demonstrated with data examples of a long running seismological recording station in Finland.

Study of placenta of children born with congenital malformations.

PubMed

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

2003-01-01

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

Hydrocephalus in Dandy-Walker malformation.

PubMed

Spennato, Pietro; Mirone, Giuseppe; Nastro, Anna; Buonocore, Maria Consiglio; Ruggiero, Claudio; Trischitta, Vincenzo; Aliberti, Ferdinando; Cinalli, Giuseppe

2011-10-01

Even if the first description of Dandy-Walker dates back 1887, difficulty in the establishment of correct diagnosis, especially concerning differential diagnosis with other types of posterior fossa CSF collection, still persists. Further confusion is added by the inclusion, in some classification, of different malformations with different prognosis and therapeutic strategy under the same label of "Dandy-Walker". An extensive literature review concerning embryologic, etiologic, pathogenetic, clinical and neuroradiological aspects has been performed. Therapeutic options, prognosis and intellectual outcome are also reviewed. The correct interpretation of the modern neuroradiologic techniques, including CSF flow MR imaging, may help in identifying a "real" Dandy-Walker malformation. Among therapeutical strategies, single shunting (ventriculo-peritoneal or cyst-peritoneal shunts) appears effective in the control of both ventricle and cyst size. Endoscopic third ventriculostomy may be considered an acceptable alternative, especially in older children, with the aim to reduce the shunt-related problems. Prognosis and intellectual outcome mostly depend on the presence of associated malformations, the degree of vermian malformation and the adequate control of hydrocephalus.

Brain Malformations

MedlinePlus

Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

Biology of vascular malformations of the brain.

PubMed

Leblanc, Gabrielle G; Golanov, Eugene; Awad, Issam A; Young, William L

2009-12-01

This review discusses recent research on the genetic, molecular, cellular, and developmental mechanisms underlying the etiology of vascular malformations of the brain (VMBs), including cerebral cavernous malformation, sporadic brain arteriovenous malformation, and the arteriovenous malformations of hereditary hemorrhagic telangiectasia. Summary of Review- The identification of gene mutations and genetic risk factors associated with cerebral cavernous malformation, hereditary hemorrhagic telangiectasia, and sporadic arteriovenous malformation has enabled the development of animal models for these diseases and provided new insights into their etiology. All of the genes associated with VMBs to date have known or plausible roles in angiogenesis and vascular remodeling. Recent work suggests that the angiogenic process most severely disrupted by VMB gene mutation is that of vascular stabilization, the process whereby vascular endothelial cells form capillary tubes, strengthen their intercellular junctions, and recruit smooth muscle cells to the vessel wall. In addition, there is now good evidence that in some cases, cerebral cavernous malformation lesion formation involves a genetic 2-hit mechanism in which a germline mutation in one copy of a cerebral cavernous malformation gene is followed by a somatic mutation in the other copy. There is also increasing evidence that environmental second hits can produce lesions when there is a mutation to a single allele of a VMB gene. Recent findings begin to explain how mutations in VMB genes render vessels vulnerable to rupture when challenged with other inauspicious genetic or environmental factors and have suggested candidate therapeutics. Understanding of the cellular mechanisms of VMB formation and progression in humans has lagged behind that in animal models. New knowledge of lesion biology will spur new translational work. Several well-established clinical and genetic database efforts are already in place, and further

Experimental study of the embryogenesis of gastrointestinal duplication and enteric cyst.

PubMed

Emura, Takaki; Hashizume, Kohei; Asashima, Makoto

2003-05-01

The theory of gastrointestinal duplication and enteric cyst embryogenesis was verified by examining the developmental process of this experimentally induced anomaly. In Cynopus pyrrhogaster (amphibian) embryos (stage 18), the dorsal midline structures (including the neural plate and notochord) were split regionally to induce partial separation of the notochord and gut anlage endoderm herniation between the split elements of the notochord. Following this procedure, the embryonic development was traced morphologically and histologically. Control embryos were cultured without the procedure. Following the incubation and breeding period, gastrointestinal duplication and enteric cysts were observed with vertebral anomaly, spina bifida, split cord malformation and subcutaneous manifestations in the mature animals. The combination of anomalies that was observed in these experimental animals is consistent with that found in "split notochord syndrome." No abnormal morphology or histology was observed in the control group. The embryogenetic theory of gastrointestinal duplication and enteric cysts was thus verified by simulating the partial separation of the notochord, which induced split notochord syndrome in laboratory animals. The results indicate that gastrointestinal duplication and enteric cysts may arise through a process of herniation of the gut anlage endoderm between split elements of the notochord.

Arteriovenous Malformations

MedlinePlus

Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

Congenital malformations of the skull and meninges.

PubMed

Kanev, Paul M

2007-02-01

The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

Chiari I Malformation in Nephropathic Cystinosis

PubMed Central

Rao, Kavya I; Hesselink, John; Trauner, Doris A

2015-01-01

Objective To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. Study design Magnetic resonance imaging (MRI) scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years. Results Ten of 53 (18.9%) cystinosis patients had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx. Conclusions Children with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and MRI scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms. PMID:26265281

Caudal Duplication Syndrome: the Vital Role of a Multidisciplinary Approach and Staged Correction

PubMed Central

Samuk, Inbal; Levitt, Marc; Dlugy, Elena; Kravarusic, Dragan; Ben-Meir, David; Rajz, Gustavo; Konen, Osnat; Freud, Enrique

2015-01-01

Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved. The purpose of this report is to present the pathology, assessment, and management strategy of this complex case. PMID:28018799

Acquired Uterine Arteriovenous Malformation and Retained Placenta Increta.

PubMed

Roach, Michelle K; Thomassee, May S

2015-09-01

Uterine arteriovenous malformations are rare and have been reported to occur after uterine trauma (eg, surgery, gestational trophoblastic disease, malignancy). A 33-year-old woman, gravida 3 para 3, presented 4 weeks post-cesarean delivery with episodic profuse vaginal bleeding. Pelvic ultrasonography and magnetic resonance imaging revealed a left uterine arteriovenous malformation. After consideration of all treatment options, total laparoscopic hysterectomy was performed. Acquired uterine arteriovenous malformations and placental ingrowth into the myometrium are increasingly reported after surgical uterine procedures. This case of a postpartum patient with both uterine arteriovenous malformation and retained placenta increta suggests a correlation between the two complications.

Are Herniated Cerebellar Tonsils the Main Culprit of Chiari Malformation Type I Symptoms? The Brainstem Compression Hypothesis seems to be Re-Elucidated and Revised.

PubMed

Selcuki, Mehmet; Mete, Mesut; Selcuki, Deniz

2018-01-01

The Chiari Malformation I (CM I) and the tethered cord syndrome (TCS) are both congenital abnormalities whose mechanisms are still not fully understood. The association of CM I and TCS has been reported only a few times previously. This retrospective study included 7 patients who were diagnosed with CM I and TCS, managed by cutting of the filum terminale. The mean follow-up period was 21 months and 28 days. Although all patients underwent an untethering surgical procedure by cutting the filum terminale only, all patients reported significant early postsurgical resolution of CM I symptoms and symptoms related to TCS as well. Patients with symptomatic CM I, even if lumbar MRI is normal and the patient asymptomatic for TCS, may have tethered spinal cord at the same time. It seems it would be worthwhile to investigate CM I patients for occult TCS with spinal somatosensory evoked potentials.

Choledochal malformations: the Scottish experience.

PubMed

Yeung, Baldwin Po Man; Broadis, Emily; Maguire, Kirsty; Bradnock, Timothy J; Munro, Fraser D; Driver, Chris P; Haddock, Graham

2012-06-01

Excisional surgery for choledochal malformations in Scotland is currently performed in three specialist pediatric surgical centers using open or laparoscopic-assisted techniques. We reviewed the outcome of children who had excisional surgery in Scotland between 1992 and 2010. Case notes for all patients undergoing excisional surgery in any of the three specialist pediatric surgical centers in Scotland between 1992 and 2010 were retrospectively reviewed. A total of 25 patients were identified, with a female preponderance of 4:1. Of these, three patients (12%) were diagnosed by antenatal ultrasound scan. The commonest presenting symptoms were anorexia (56%), abdominal pain (52%), and jaundice (52%). Only 20% had the classical triad of abdominal pain, jaundice, and a palpable mass. Using the King's College Hospital classification, 14 patients had type 1 malformations, 8 had type 4 malformations, and 3 had type 2 malformations. Median age at operation was 2 years (range 35 days to 13.5 years). Two centers performed open excision while the third center used primarily a laparoscopic-assisted technique. Median follow-up was 2.1 years (range 30 days to 11.9 years). Three patients (12%) required repeat laparotomy. The wound infection rate was 8% (n=2). The recurrent cholangitis rate was 8% (n=2). There was one late death due to adhesive small bowel obstruction, 4 years after surgery. To date, no patient has developed biliary tree stones or liver failure. Choledochal malformation excisional surgery, either open or laparoscopic assisted, can be safely performed in appropriately equipped, pediatric surgical centers in Scotland by experienced pediatric surgeons. Copyright © 2012 by Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genetics Home Reference: megalencephaly-capillary malformation syndrome

MedlinePlus

... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of MCAP is ... Brain Malformations Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) Megalencephaly-capillary malformation syndrome ...

Dandy-Walker Malformation Presenting with Affective Symptoms.

PubMed

Batmaz, Mert; Balçik, Zeynep Ezgi; Özer, Ürün; Hamurişçi Yalçin, Burcu; Özen, Şakir

2017-09-01

Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been diagnosed with Dandy-Walker malformation in childhood. First complaints were attention deficiency, behavioral problems, learning difficulties; and manic and depressive episodes have occurred during follow-ups. He recently complained of decreased need for sleep, irritability, and increased speed of thought, and psychiatric examination was consistent with manic episode. Cranial computed tomography (CT) revealed bilateral ventriculomegaly, enlarged third and fourth ventricles with posterior fossa cyst, and cerebellar hypoplasia. His treatment included 30 mg/day aripiprazole, 1000 mg/day valproic acid, 200 mg/day quetiapine, 4 mg/day biperiden, and 100 mg/month paliperidone palmitate. Beside its traditional role in the regulation of coordination and motor functions, cerebellum is increasingly emphasized for its involvement in the mood regulation. Thus, as seen in Dandy-Walker malformation, cerebellar anomalies are suggested to play a role in the pathophysiology of mood disorders. Further studies are needed to better understand the relationship between mood disorders and cerebellum. Moreover, treatment options should be considered carefully in terms of resistance to treatment and potential side effects, for psychiatric disorders occurring in these

Congenital Vascular Malformation

MedlinePlus

... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

Computed tomography of congenital brain malformations

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sarwar, M.

1984-01-01

This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated.more » A description of CNS embryology is included as well.« less

Management of lymphatic malformations in children.

PubMed

Bagrodia, Naina; Defnet, Ann M; Kandel, Jessica J

2015-06-01

To review the literature on lymphatic malformations and to provide current opinion about the management of these lesions. Current treatment options include nonoperative management, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New therapies are emerging, including sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management centers on the patient's quality of life. Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, in addition to knowledge gained from clinical practice. A patient-centered approach should guide timing and modality of treatment. Continued study of lymphatic malformations will increase and solidify a treatment algorithm for these complicated lesions.

Update on the management of anorectal malformations.

PubMed

Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

2013-09-01

Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period.

Congenital malformations of human dermatoglyphs

PubMed Central

David, T. J.

1973-01-01

A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7 PMID:4693462

Engineered living blood vessels: functional endothelia generated from human umbilical cord-derived progenitors.

PubMed

Schmidt, Dörthe; Asmis, Lars M; Odermatt, Bernhard; Kelm, Jens; Breymann, Christian; Gössi, Matthias; Genoni, Michele; Zund, Gregor; Hoerstrup, Simon P

2006-10-01

Tissue-engineered living blood vessels (TEBV) with growth capacity represent a promising new option for the repair of congenital malformations. We investigate the functionality of TEBV with endothelia generated from human umbilical cord blood-derived endothelial progenitor cells. Tissue-engineered living blood vessels were generated from human umbilical cord-derived myofibroblasts seeded on biodegradable vascular scaffolds, followed by endothelialization with differentiated cord blood-derived endothelial progenitor cells. During in vitro maturation the TEBV were exposed to physiologic conditioning in a flow bioreactor. For functional assessment, a subgroup of TEBV was stimulated with tumor necrosis factor-alpha. Control vessels endothelialized with standard vascular endothelial cells were treated in parallel. Analysis of the TEBV included histology, immunohistochemistry, biochemistry (extracellular matrix analysis, DNA), and biomechanical testing. Endothelia were analyzed by flow cytometry and immunohistochemistry (CD31, von Willebrand factor, thrombomodulin, tissue factor, endothelial nitric oxide synthase). Histologically, a three-layered tissue organization of the TEBV analogous to native vessels was observed, and biochemistry revealed the major matrix constituents (collagen, proteoglycans) of blood vessels. Biomechanical properties (Young's modulus, 2.03 +/- 0.65 MPa) showed profiles resembling those of native tissue. Endothelial progenitor cells expressed typical endothelial cell markers CD31, von Willebrand factor, and endothelial nitric oxide synthase comparable to standard vascular endothelial cells. Stimulation with tumor necrosis factor-alpha resulted in physiologic upregulation of tissue factor and downregulation of thrombomodulin expression. These results indicate that TEBV with tissue architecture and functional endothelia similar to native blood vessels can be successfully generated from human umbilical cord progenitor cells. Thus, blood

Resection of a ventral intramedullary cervical spinal cord cavernous malformation through an anterior approach.

PubMed

Weil, Alexander G; Bhatia, Sanjiv

2014-09-01

Ventrally-located intramedullary cervical spinal cord cavernomas are rare entities in the pediatric population. Surgical access to these lesions is challenging. The authors present the complete resection of a symptomatic ventral cervical intramedullary cavernoma through an anterior approach in a 15-year-old boy. The lesion was accessed following left anterolateral dissection, C3-4 discectomy and C3/C4 partial corpectomy. The authors will discuss the rationale for intervening in this patient and for selecting this anterior approach over other approaches, such as the anterolateral, posterolateral or posterior approach. The steps, pitfalls and pearls of this surgical approach will be demonstrated in a detailed video. The video can be found here: http://youtu.be/-ARTp6g13hgs.

[Hemangiomas and vascular malformations of the head and neck].

PubMed

Hassmann-Poznańska, Elibieta; Kurzyna, Agnieszka

2006-01-01

This paper presents the review of current knowledge regarding vascular lesions of the head and neck. For many years the term hemangioma was used to describe all vascular lesions. Mulliken and Glowacki classified congenital vascular lesions and recognized two distinct entities, hemangiomas-vascular tumors and vascular malformations. Hemangiomas are usually not present at birth, proliferate during first year of life and then involute. They are composed of proliferating endothelial cells. Vascular malformations are always present at birth although not always apparent, increase slowly in size throughout whole life and never involute. They enlarge by hypertrophy of malformed vessels. Vascular malformations can be further subdivided according to the type of involved vessels as arterial, arteriovenous, venous, capillary or lymphatic. Accurate diagnosis of hemangiomas and vascular malformations remains a challenge for physicians. Although majority of hemangiomas are self limiting lesions some of them may develop complications such as; ulceration, airway obstruction, ophthalmic complications, psychosocial consequences. Segmental hemangiomas are associated with the risk of structural anomalies such as those that occur in PHACE syndrome. Clinical presentation and forms of treatment of various forms of vascular malformations are presented. Vascular malformations have to be treated according to their histopathology and location, as well as their hemodynamic features shown by radiological examinations.

Dandy-Walker malformation: analysis of 38 cases.

PubMed

Pascual-Castroviejo, I; Velez, A; Pascual-Pascual, S I; Roche, M C; Villarejo, F

1991-04-01

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 cases); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra- and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.

The presentation and management of complex female genital malformations.

PubMed

Acién, Pedro; Acién, Maribel

2016-01-01

Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

Slide tracheoplasty outcomes in children with congenital pulmonary malformations.

PubMed

DeMarcantonio, Michael A; Hart, Catherine K; Yang, Christina J; Tabangin, Meredith; Rutter, Michael J; Bryant, Roosevelt; Manning, Peter B; de Alarcón, Alessandro

2017-06-01

Evaluate and compare surgical outcomes of slide tracheoplasty for the treatment of congenital tracheal stenosis in children with and without pulmonary malformations. Retrospective chart review at a tertiary care pediatric medical center. We identified patients with tracheal stenosis who underwent slide tracheoplasty from 2001 to 2014, and a subset of these patients who were diagnosed with congenital pulmonary malformations. Hospital course and preoperative and postoperative complications were recorded. One hundred thirty patients (18 with pulmonary malformations, 112 with normal pulmonary anatomy) were included. Pulmonary malformations included unilateral pulmonary agenesis (61%) and hypoplasia (39%). Children with pulmonary malformations had a greater median age compared to their normal lung anatomy counterparts. Preoperatively, patients with pulmonary malformations more frequently required preoperative mechanical ventilation (55.6% vs. 21.3%, P = .007), extracorporeal membrane oxygenation (ECMO) (11% vs. 0.9%, P = .05), and tracheostomy (22.2% vs. 3.6%, P = .01). Postoperatively, patients with pulmonary malformations more frequently required mechanical ventilation >48 hours (78% vs. 37%, P =.005) and ECMO use (11% vs. 0.9%, P = .05). Pulmonary malformation patients and children with normal anatomy did not differ in terms of postoperative tracheostomy (16.7% vs. 4.4%, P > .05), dehiscence (6% vs. 0%, P > .05%), restenosis (11% vs. 6%, P > .05) or postoperative figure 8 deformity (6% vs. 3%, P > .05). Mortality, however, was significantly increased (22.2% vs. 3.6%, P = .01) in children with pulmonary malformations. Although slide tracheoplasty can be successfully performed in patients with abnormal pulmonary anatomy, surgeons and families should anticipate a more difficult postoperative course, with possible associated prolonged mechanical ventilation, ECMO use, and higher mortality than in children with tracheal stenosis alone. 4. Laryngoscope, 127:1283-1287, 2017

Head and neck vascular malformations: time-resolved MR projection angiography.

PubMed

Ziyeh, S; Schumacher, M; Strecker, R; Rössler, J; Hochmuth, A; Klisch, J

2003-10-01

Extracranial vascular anomalies can be divided into haemangiomas and vascular malformations. The latter can be subdivided on the basis of the predominant type of vascular channels. Separation of high- and low-flow vascular malformations is of clinical importance. We report preliminary observations on time-resolved magnetic resonance projection angiography (MRPA) of vascular malformations of the head and neck. We examined eight patients with vascular anomalies of the head and neck. On MRPA the time between the early arterial phase and enhancement of the malformation could be used to distinguish high- and low-flow lesions. High-flow arteriovenous malformations showed early, intense enhancement. Venous malformations were either not visible on MRPA or showed late enhancement of veins. One patient was examined after embolisation of an arteriovenous fistula of the mandible. Normal MRPA was taken to indicate absence of a residual lesion.

Chronic cerebral herniation in shunted Dandy-Walker malformation.

PubMed

Naidich, T P; Radkowski, M A; McLone, D G; Leestma, J

1986-02-01

A review of serial computed tomography (CT) scans of 25 patients with the Dandy-Walker malformation revealed six patients with chronic downward transincisural herniation of the cerebrum after shunt decompression of the posterior fossa cyst or malfunction of a lateral ventricular drainage catheter, or both. Chronic cerebral herniation was detected postmortem in a seventh patient with the Dandy-Walker malformation. The CT findings and autopsy appearance of this previously undescribed feature of shunted Dandy-Walker malformation are illustrated.

A case of pancreatic AV malformation in an elderly man.

PubMed

Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

2018-06-01

A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation.

PubMed

Voorbij, A M W Y; Meij, B P; van Bruggen, L W L; Grinwis, G C M; Stassen, Q E M; Kooistra, H S

2015-01-01

Canine pituitary dwarfism or combined pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. To evaluate the presence of atlanto-axial malformations in dogs with pituitary dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with pituitary dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, pituitary dwarfs should be monitored closely for neurological signs. Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of American College of Veterinary Internal Medicine.

Dandy-Walker Malformation Presenting with Affective Symptoms

PubMed Central

BATMAZ, Mert; BALÇIK, Zeynep Ezgi; ÖZER, Ürün; HAMURİŞÇİ YALÇIN, Burcu; ÖZEN, Şakir

2017-01-01

Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been diagnosed with Dandy-Walker malformation in childhood. First complaints were attention deficiency, behavioral problems, learning difficulties; and manic and depressive episodes have occurred during follow-ups. He recently complained of decreased need for sleep, irritability, and increased speed of thought, and psychiatric examination was consistent with manic episode. Cranial computed tomography (CT) revealed bilateral ventriculomegaly, enlarged third and fourth ventricles with posterior fossa cyst, and cerebellar hypoplasia. His treatment included 30 mg/day aripiprazole, 1000 mg/day valproic acid, 200 mg/day quetiapine, 4 mg/day biperiden, and 100 mg/month paliperidone palmitate. Beside its traditional role in the regulation of coordination and motor functions, cerebellum is increasingly emphasized for its involvement in the mood regulation. Thus, as seen in Dandy-Walker malformation, cerebellar anomalies are suggested to play a role in the pathophysiology of mood disorders. Further studies are needed to better understand the relationship between mood disorders and cerebellum. Moreover, treatment options should be considered carefully in terms of resistance to treatment and potential side effects, for psychiatric disorders occurring in these

Microsurgical Resection of Spinal Cord Hemangioblastoma: 2-Dimensional Operative Video.

PubMed

Pojskic, Mirza; Arnautovic, Kenan I

2018-05-18

This video demonstrates microsurgical resection of spinal cord hemangioblastoma. Hemangioblastomas are rare, benign, highly vascularized tumors classified as grade I according to World Health Organization classification systems. About 3% of all intramedullary tumors are hemangioblastomas.1,2 Spinal cord hemangioblastomas are either sporadic3,4 or manifestations of von Hippel-Lindau (VHL) disease in 20% to 45% of patients.5,6 A 30-year-old male presented with sudden onset urinary incontinence. Magnetic resonance imaging showed contrast enhancing intramedullary tumor with adjacent cyst in T11, and syringomyelia extending to C1. Surgical resection followed rules that apply to resection of arteriovascular malformations: coagulation of arterial feeders precedes the coagulation of the draining vein, which is preserved until the end of surgery.2,4,5,7,8 First, posterior midline myelotomy was performed and the tumor cyst was drained in order to develop a dissection plane. Following this, we continuously separated dorsal nerve roots from the tumor nodule using microsurgical technique. The key step in tumor resection is devascularization of the tumor, achievable in 2 ways.2,7,9-13 The circumferential detachment of the normal pia from the tumor pia is crucial in developing a plane of dissection. The coagulation and division of arterial feeders while preserving the drainage vein further devascularizes the tumor. Once the tumor mural nodule was detached from the spinal cord, the drainage vein was coagulated last and the tumor was removed. The patient fully recovered from his incontinence and was neurologically intact. Screening for VHL disease was negative. Written consent was obtained directly from the patient.

A developmental and genetic classification for midbrain-hindbrain malformations

PubMed Central

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale☆

PubMed Central

Milhorat, Thomas H.; Bolognese, Paolo A.; Nishikawa, Misao; Francomano, Clair A.; McDonnell, Nazli B.; Roonprapunt, Chan; Kula, Roger W.

2018-01-01

Objective The pathogenesis of CM-I is incompletely understood. We describe an association of CM-I and TCS that occurs in a subset of patients with normal size of the PCF. Methods The prevalence of TCS was determined in a consecutively accrued cohort of 2987 patients with CM-I and 289 patients with low-lying cerebellar tonsils (LLCT). Findings in 74 children and 244 adults undergoing SFT were reviewed retrospectively. Posterior cranial fossa size and volume were measured using reconstructed 2D computed tomographic scans and MR images. Results were compared to those in 155 age- and sex-matched healthy control individuals and 280 patients with generic CM-I. The relationships of neural and osseus structures at the CCJ and TLJ were investigated morphometrically on MR images. Intraoperative CDU was used to measure anatomical structures and CSF flow in the lumbar theca. Results Tethered cord syndrome was present in 408 patients with CM-I (14%) and 182 patients with LLCT (63%). In 318 patients undergoing SFT, there were no significant differences in the size or volume of the PCF as compared to healthy control individuals. Morphometric measurements demonstrated elongation of the brain stem (mean, 8.3 mm; P < .001), downward displacement of the medulla (mean, 4.6 mm; P < .001), and normal position of the CMD except in very young patients. Compared to patients with generic CM-I, the FM was significantly enlarged (P < .001). The FT was typically thin and taut (mean transverse diameter, 0.8 mm). After SFT, the cut ends of the FT distracted widely (mean, 41.7 mm) and CSF flow in the lumbar theca increased from a mean of 0.7 cm/s to a mean of 3.7 cm/s (P < .001). Symptoms were improved or resolved in 69 children (93%) and 203 adults (83%) and unchanged in 5 children (7%) and 39 adults (16%) and, worse, in 2 adults (1%) over a follow-up period of 6 to 27 months (mean, 16.1 months ± 4.6 SD). Magnetic resonance imaging 1 to 18 months after surgery (mean, 5.7 months ± 3.8 SD

Field guide to malformations of frogs and toads: with radiographic interpretations

USGS Publications Warehouse

Meteyer, Carol U.

2000-01-01

In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the

CONGENITAL HEART MALFORMATIONS IN NEWBORN BABIES WITH LOW BIRTH WEIGHT.

PubMed

Luca, Alina-Costina; Holoc, Andreea-Simona; Iordache, C

2015-01-01

Congenital heart malformations represent a public health problem, holding a significant percentage of the total of heart diseases. Beside the elevated frequency of the malformations, we also notice their occurrence in newborn babies with low birth weight, increasing, thus, the risk of complications and late therapeutic approach. The goal of the study was to highlight the general and particular aspects of cardiovascular malformations epidemiology in newborn babies with low weight at birth, the correlation of the malformations with implied genetic and environmental factors, assessing the complications and their procedures on the therapeutic management. Our study was performed on a group of 271 patients, hospitalized in the Department of Pediatric Cardiology of "Sf. Maria" Emergency Clinical Hospital for Children of Iasi, during January 2011-December 2013. The patients were assessed based on anamnesis, clinical, biological and imagistic exam. The study lot was divided according to the type of the structural defect: 95% of the patients were diagnosed with non-cyanogenic congenital heart malformations and 5% with cyanogenic congenital heart malformations. Regarding the patient's origin background, we notice an elevated frequency of the rural environment (71%). The incidence of the malformations was high in premature low birth weight (48%), followed by premature very low birth weight (22%). In evolution, congenital heart malformations often get more complicated heart failure, arterial hypertension and respiratory infections being most often met. Mortality was maximum in the first year of life, a third of the cases being associated with chromosomal malformations. Congenital heart malformations in newborn patients with low weight at birth represented an elevated percentage of 44.13% of the total of the cases hospitalized for cardiovascular diseases from the Department of Pediatric Cardiology of Iasi. Many cases were associated with other congenital malformations or

Abernethy malformation: a case report

PubMed Central

2012-01-01

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:22642663

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

PubMed

Ancot, Frédéric; Lemay, Philippe; Knowler, Susan P; Kennedy, Karen; Griffiths, Sandra; Cherubini, Giunio Bruto; Sykes, Jane; Mandigers, Paul J J; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha

2018-03-22

Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance. We identified six cranial T1-weighted sagittal MRI measurements that were associated to maximum transverse diameter of the syrinx cavity. Increased syrinx transverse diameter has been correlated previously with increased likelihood of behavioral signs of pain. We next conducted a whole genome association study of these traits in 65 Cavalier King Charles Spaniel (CKCS) dogs (33 controls, 32 with extreme phenotypes). Two loci on CFA22 and CFA26 were found to be significantly associated to two traits associated with a reduced volume and altered orientation of the caudal cranial fossa. Their reconstructed haplotypes defined two associated regions that harbor only two genes: PCDH17 on CFA22 and ZWINT on CFA26. PCDH17 codes for a cell adhesion molecule expressed specifically in the brain and spinal cord. ZWINT plays a role in chromosome segregation and its expression is increased with the onset of neuropathic pain. Targeted genomic sequencing of these regions identified respectively 37 and 339 SNPs with significantly associated P values. Genotyping of tagSNPs selected from these 2 candidate loci in an extended cohort of 461 CKCS (187 unaffected, 274 SM affected) identified 2 SNPs on CFA22 that were significantly associated to SM strengthening the candidacy of this locus in SM development. We identified 2 loci on CFA22 and CFA26 that contained only 2 genes, PCDH17 and ZWINT, significantly associated to two traits associated with syrinx transverse

Dandy-Walker malformation: a rare association with hypoparathyroidism.

PubMed

Coban, Dilek; Akin, Mustafa Ali; Kurtoglu, Selim; Oktem, Suat; Yikilmaz, Ali

2010-12-01

Dandy-Walker malformation is characterized by cystic dilatation of the fourth ventricle and an enlarged posterior cranial fossa with upward displacement of the tentorium, lateral sinuses, and torcular, with agenesis or hypoplasia of the cerebellar vermis. Dandy-Walker malformation occurs in approximately the 4th week of gestation and is associated with various abnormalities involving the cardiac, skeletal, genitourinary, and gastrointestinal systems. The parathyroid gland also forms in the 3rd and 4th gestational weeks. Reported here is the case of a male infant with Dandy-Walker malformation with ventricular and atrial septal defect, unilateral renal agenesis, and hypoparathyroidism. To our knowledge, this rare association with neural crest events during the development of Dandy-Walker malformation has not been reported previously. Crown Copyright © 2010. Published by Elsevier Inc. All rights reserved.

cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

PubMed Central

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

Anaesthetic management of a child with massive extracranial arteriovenous malformation

PubMed Central

Shamim, Faisal; Ullah, Hameed; Rehman, Azhar

2012-01-01

Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented. PMID:22345959

Contribution of Rare Copy Number Variants to Isolated Human Malformations

PubMed Central

Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

2012-01-01

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

Klippel-Feil syndrome and Dandy-Walker malformation.

PubMed

Karaman, A; Kahveci, H

2011-01-01

The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation.

Orofacial clinical features in Arnold Chiari type I malformation: A case series.

PubMed

de Arruda, José-Alcides; Figueiredo, Eugênia; Monteiro, João-Luiz; Barbosa, Livia-Mirelle; Rodrigues, Cleomar; Vasconcelos, Belmiro

2018-04-01

Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods. Mean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm. ACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words: Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

The Chiari 3 Malformation and a Systemic Review of the Literature.

PubMed

Young, Richard M; Shafa, Justin S; Myseros, John S

2015-01-01

Chiari type 3 is a rare hindbrain malformation that has been reported in the literature primarily as case reports and case series. Radiological, pathophysiological and surgical definitions of the malformation are inconsistent in the literature and subsequently can be confusing, and outcomes have also been uniformly poor. The definition of this rare malformation will be clarified through a case presentation. A retrospective review of prior publications in the PubMed and MEDLINE databases was performed looking for reports of 'Chiari 3 +/- malformation' and 'occipital encephalocele'. Relevant papers were reviewed and compiled into table format with associated descriptions of a Chiari type 3 malformation. A case illustration is presented with radiological and intraoperative imaging to reinforce and clarify the definition. Upon review of the prior publications in the detail of the descriptions and imaging associated with each article, there is a wide range of variability in the description of what is considered a Chiari 3 malformation. Occipital, occipitocervical and high cervical defects have all been described as Chiari 3 malformation. Our case illustration presents a patient with an occipitocervical encephalocele with neural elements, which is the classic and accepted definition of the Chiari 3 malformation. Chiari type 3 is a rare congenital malformation, and prior publications describing this developmental disorder have not demonstrated a consensus in its definition. In addition, outcomes have traditionally been reported as poor. This case illustration of a Chiari type 3 enforces the definition of an occipitocervical encephalocele with hindbrain herniation, and with proper management not all Chiari 3 malformation patients have bad outcomes. © 2015 S. Karger AG, Basel.

Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?

PubMed

Mooy, C M; Clark, B J; Lee, W R

1990-01-01

This clinicopathological report describes an unusual combination of axial corneal malformation and angiodysgenesis in the uvea, retina and optic nerve in three eyes. In each specimen there was hypocellularity in the posterior axial stroma, with corresponding loss of the corneal endothelium. The vascular malformation consisted of numerous telangiectatic endothelium-lined tubes with inconspicuous or absent media. One globe was obtained from a stillborn fetus (36 weeks) in which renal agenesis and a sireniform malformation (mermaid fetus) occurred in conjunction with a Fallot's tetralogy, pulmonary hypoplasia and atresia of the trachea and duodenum. Eyes with almost identical malformations were obtained from a 39-week female neonate who died after 5 h as a consequence of renal agenesis and pulmonary hypoplasia. This combination of ocular tissue malformations can be explained by embryological studies, which have shown that the corneal stroma and endothelium and the ocular periendothelial vascular tissues are derived from the neural crest.

Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report.

PubMed

Li, Hui; Ma, Zhi; Xie, Ying; Tian, Feng

The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hyperammonemia recurred 3 months later. The diagnosis of Abernethy malformation can be made easily, but the ideal patient management strategy has not yet been established. This is the first reported patient with recurrence of hyperammonemia after interventional treatment; we discuss the therapeutic options for Abernethy malformation.

Congenital extrahepatic portosystemic shunts (Abernethy malformation): a histopathologic evaluation.

PubMed

Lisovsky, Mikhail; Konstas, Angelos A; Misdraji, Joseph

2011-09-01

Congenital extrahepatic portosystemic shunt, also known as Abernethy malformation, is a rare malformation in which intestinal and splenic venous blood bypasses the liver and drains into systemic veins. Aside from the complete or near-complete absence of portal veins, other histologic features of Abernethy malformation have not been evaluated in the literature. The goal of this study was to detail the hepatic histopathology in 5 patients with Abernethy malformation diagnosed at our institution. Paraffin-embedded tissue sections from 1 explant, 2 liver tumor resections, and 2 liver biopsies were evaluated using hematoxylin and eosin stains, reticulin, elastic, and trichrome stains, and immunohistochemistry for D2-40. Histologic findings included absence of portal veins in small portal tracts, absent or hypoplastic portal veins in medium-sized and large-sized portal tracts, isolated capillaries and arterioles in the lobules, hypertrophy of hepatic artery branches, remodeling of the liver architecture, and nodular regenerative hyperplasia in 1 case. Two patients had hepatocellular carcinoma without cirrhosis, and 2 had focal nodular hyperplasia. In addition to loss of portal veins, Abernethy malformation is characterized by multiple abnormalities due to remodeling of the hepatic vasculature. Abernethy malformation may also be associated with hepatocellular carcinoma and focal nodular hyperplasia in some patients.

Neuroimaging of Dandy-Walker malformation: new concepts.

PubMed

Correa, Gustavo Gumz; Amaral, Lázaro Faria; Vedolin, Leonardo Modesti

2011-12-01

Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as syndromic malformations and congenital infections. Dandy-Walker malformation is associated with other central nervous system abnormalities, including dysgenesis of corpus callosum, ectopic brain tissue, holoprosencephaly, and neural tube defects. Hydrocephalus plays an important role in the development of symptoms and neurological outcome in patients with DWM, and the aim of surgical treatment is usually the control of hydrocephalus and the posterior fossa cyst. Imaging modalities, especially magnetic resonance imaging, are crucial for the diagnosis of DWM and distinguishing this disorder from other cystic posterior fossa lesions. Persistent Blake's cyst is seen as a retrocerebellar fluid collection with cerebrospinal fluid signal intensity and a median line communication with the fourth ventricle, commonly associated with hydrocephalus. Mega cisterna magna presents as an extraaxial fluid collection posteroinferior to an intact cerebellum. Retrocerebellar arachnoid cysts frequently compress the cerebellar hemispheres and the fourth ventricle. Patients with DWM show an enlarged posterior fossa filled with a cystic structure that communicates freely with the fourth ventricle and hypoplastic vermis. Comprehension of hindbrain embryology is of utmost importance for understanding the cerebellar malformations, including DWM, and other related entities.

[Coexistence of female sexual organ malformation and urinary tract anomalies].

PubMed

Rzymski, P; Szpakowska-Rzymska, I; el Yubi, R; Wilczak, M; Sajdak, S; Opala, T

2001-02-01

The aim of the study was to estimate the correlation between sexual organs and urinary tract malformation. The retrospective analysis of clinical data obtained from 50 patients with sexual organs anomalies diagnosed in the Academic Gynaecological Centre between 1992-1999 was performed. Material included 24 patients with the Meyer-Rokitansky-Küster-Hauser syndrome and 26 with other sexual organs' malformations. Frequency of urinary tract anomalies was 42%, 11 patients with Meyer-Rokitansky-Küster-Hauser syndrome and 11 with other malformations. The gravity of urinary tract anomalies showed no statistical significant difference dependent on the type and symmetry of genital malformation. Urinary tract anomalies were more frequent in cases of asymmetric genital malformation and the difference was statistically significant. Intravenous urography proofed to be more sensitive than ultrasonography in diagnosing urinary tract anomalies.

Ultrasound-guided high-intensity focused ultrasound ablation for treating uterine arteriovenous malformation.

PubMed

Yan, X; Zhao, C; Tian, C; Wen, S; He, X; Zhou, Y

2017-08-01

To explore HIFU treatment for uterine arteriovenous malformation. A case report. Gynaecological department in a university teaching hospital of China. A patient with uterine arteriovenous malformation. The diagnosis of uterine arteriovenous malformation was made through MRI. Ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation was performed. HIFU is effective in treating uterine arteriovenous malformation. The patient had reduction of the lesion volume and obvious symptom relief, without significant adverse effects. HIFU can be used as a new treatment option for uterine arteriovenous malformation. Ultrasound-guided high-intensity focused ultrasound ablation is effective in treating uterine arteriovenous malformation. © 2017 Royal College of Obstetricians and Gynaecologists.

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations

PubMed Central

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2016-01-01

Objective To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk for overall major congenital, cardiac, and central nervous system (CNS) malformations. Methods We used a cohort of completed pregnancies linked to liveborn infants derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. Results The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor–exposed was 5.9% versus 3.3% in the unexposed (unadjusted relative risk (RR), 1.82; 95% confidence interval (CI) 1.61 to 2.06), of cardiac malformations was 3.4% versus 1.2% (RR 2.95; 95% CI 2.50 to 3.47), and of CNS malformations was 0.27% versus 0.18% (RR 1.46; 95% CI 0.81 to 2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk for any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75 to 1.06) for overall malformations, 0.95 (95% CI 0.75 to 1.21) for cardiac malformations, and 0.54 (95% CI 0.26 to 1.11) for CNS malformations. Conclusions After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations. PMID:27926639

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations.

PubMed

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2017-01-01

To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor-exposed pregnancies was 5.9% compared with 3.3% in the unexposed (unadjusted relative risk, 1.82; 95% confidence interval [CI] 1.61-2.06), of cardiac malformations was 3.4% compared with 1.2% (relative risk 2.95, 95% CI 2.50-3.47), and of central nervous system malformations was 0.27% compared with 0.18% (relative risk 1.46, 95% CI 0.81-2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk of any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75-1.06) for overall malformations, 0.95 (95% CI 0.75-1.21) for cardiac malformations, and 0.54 (95% CI 0.26-1.11) for CNS malformations. After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations.

An open-label study to evaluate sildenafil for the treatment of lymphatic malformations.

PubMed

Danial, Christina; Tichy, Andrea L; Tariq, Umar; Swetman, Glenda L; Khuu, Phuong; Leung, Thomas H; Benjamin, Latanya; Teng, Joyce; Vasanawala, Shreyas S; Lane, Alfred T

2014-06-01

Lymphatic malformations can be challenging to treat. Mainstay interventions including surgery and sclerotherapy are invasive and can result in local recurrence and complications. We sought to assess the effect of 20 weeks of oral sildenafil on reducing lymphatic malformation volume and symptoms in children. Seven children (4 boys, 3 girls; ages 13-85 months) with lymphatic malformations were given oral sildenafil for 20 weeks in this open-label study. The volume of the lymphatic malformation was calculated blindly using magnetic resonance imaging performed before and after 20 weeks of sildenafil. Lymphatic malformations were assessed clinically on weeks 4, 12, 20, and 32. Both the physician and parents evaluated the lymphatic malformation in comparison with baseline. Four subjects had a lymphatic malformation volume decrease (1.0%-31.7%). In 2 subjects, despite a lymphatic malformation volume increase (1.1%-3.7%), clinical improvement was noted while on sildenafil. One subject had a 29.6% increase in lymphatic malformation volume and no therapeutic response. Lymphatic malformations of all 6 subjects who experienced a therapeutic response on sildenafil softened and became easily compressible. Adverse events were minimal. A randomized controlled trial will be necessary to verify the effects of sildenafil on lymphatic malformations. Sildenafil can reduce lymphatic malformation volume and symptoms in some children. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

The Hungarian congenital malformation monitoring system.

PubMed

Czeizel, A

1978-01-01

The Hungarian Congenital Malformation Monitor has been operating since 1973 in order to detect the temporal and regional clusters of 12 indicator congenital malformations as early as possible. This Monitor takes part in the International Clearinghouse for Birth Defects Monitoring System. Three continuously increasing trends were detected in 1973--1976. They may be connected with the more complete notifications, although the increase of limb reduction deformities are only partly explained by this factor. Transitional (quarterly) significant clusters were observed in the case of anencephaly (1974, IV), spina bifida (1974, II; and 1975, III; 1976, III), cleft lip +/- cleft palate (1974, III). The possibility of three technical biases (changes in diagnosis, notification and evaluation of the given congenital malformation) has to be excluded before accepting the fact of a real epidemic. Subsequently, a case-control epidemiological study by personal interviews and with matched controls has to be performed.

Progesterone receptors identified in vascular malformations of the head and neck.

PubMed

Duyka, Landon J; Fan, Chun Y; Coviello-Malle, Jean M; Buckmiller, Lisa; Suen, James Y

2009-10-01

To identify hormone receptors within vascular malformations (arteriovenous malformations [AVMs], venous malformations [VMs], and lymphatic malformations [LMs]) of the head and neck. Immunohistochemical staining for estrogen receptor (ER) and progesterone receptor (PR) was performed on archival vascular malformation tissue collected from both pediatric and adult patients. Tertiary referral center from 2006 to 2008. Twelve AVM, 10 VM, and eight LM specimens were stained for both ER and PR. Ten breast carcinoma specimens were used as controls, with the carcinoma cells serving as positive controls, and the endothelium and smooth muscle cells of the blood vessels serving as negative controls. Five normal supraglottic mucosal samples served as head and neck controls. The Fisher exact test was used for statistical analysis. Ten of the 12 (83%) AVM specimens stained diffusely positive for PR within the nuclei of the endothelium and smooth muscle of the malformed vessels (P < 0.0001). Five of the 10 (50%) VM specimens stained positive for PR (2 [20%] focal, 3 [30%] diffuse) within the nuclei of the endothelium and smooth muscle of the malformed vessels (P = 0.0325). Four of the eight (50%) LM specimens stained focally positive for PR within the nuclei of the endothelium of the malformed vessels (P = 0.0229). None of the vascular malformation specimens stained positive for ER. Our data suggest that PR, but not ER, is expressed in AVMs, VMs, and LMs of the head and neck.

Magnetic resonance imaging-based measures predictive of short-term surgical outcome in patients with Chiari malformation Type I: a pilot study.

PubMed

Alperin, Noam; Loftus, James Ryan; Bagci, Ahmet M; Lee, Sang H; Oliu, Carlos J; Shah, Ashish H; Green, Barth A

2017-01-01

OBJECTIVE This study identifies quantitative imaging-based measures in patients with Chiari malformation Type I (CM-I) that are associated with positive outcomes after suboccipital decompression with duraplasty. METHODS Fifteen patients in whom CM-I was newly diagnosed underwent MRI preoperatively and 3 months postoperatively. More than 20 previously described morphological and physiological parameters were derived to assess quantitatively the impact of surgery. Postsurgical clinical outcomes were assessed in 2 ways, based on resolution of the patient's chief complaint and using a modified Chicago Chiari Outcome Scale (CCOS). Statistical analyses were performed to identify measures that were different between the unfavorable- and favorable-outcome cohorts. Multivariate analysis was used to identify the strongest predictors of outcome. RESULTS The strongest physiological parameter predictive of outcome was the preoperative maximal cord displacement in the upper cervical region during the cardiac cycle, which was significantly larger in the favorable-outcome subcohorts for both outcome types (p < 0.05). Several hydrodynamic measures revealed significantly larger preoperative-to-postoperative changes in the favorable-outcome subcohort. Predictor sets for the chief-complaint classification included the cord displacement, percent venous drainage through the jugular veins, and normalized cerebral blood flow with 93.3% accuracy. Maximal cord displacement combined with intracranial volume change predicted outcome based on the modified CCOS classification with similar accuracy. CONCLUSIONS Tested physiological measures were stronger predictors of outcome than the morphological measures in patients with CM-I. Maximal cord displacement and intracranial volume change during the cardiac cycle together with a measure that reflects the cerebral venous drainage pathway emerged as likely predictors of decompression outcome in patients with CM-I.

Antipsychotic Use in Pregnancy and the Risk for Congenital Malformations

PubMed Central

Huybrechts, Krista F.; Hernández-Díaz, Sonia; Patorno, Elisabetta; Desai, Rishi J.; Mogun, Helen; Dejene, Sara Z.; Cohen, Jacqueline M.; Panchaud, Alice; Cohen, Lee; Bateman, Brian T.

2017-01-01

IMPORTANCE The frequency of antipsychotic (AP) use during pregnancy has approximately doubled during the last decade. However, little is known about their safety for the developing fetus, and concerns have been raised about a potential association with congenital malformations. OBJECTIVE To examine the risk for congenital malformations overall and cardiac malformations associated with first-trimester exposure to APs. DESIGN, SETTING, AND PARTICIPANTS This nationwide sample of 1 360 101 pregnant women enrolled in Medicaid with a live-born infant constituted the pregnancy cohort nested in the Medicaid Analytic Extract database, which included data from January 1, 2000, to December 31, 2010. Participants were enrolled in Medicaid from 3 months before their last menstrual period through at least 1 month after delivery. Relative risks (RRs) were estimated using generalized linear models with fine stratification on the propensity score to control for the underlying psychiatric disorders and other potential confounders. Data were analyzed during 2015. EXPOSURES Use of APs during the first trimester, the etiologically relevant period for organogenesis. MAIN OUTCOMES AND MEASURES Major congenital malformations overall and cardiac malformations identified during the first 90 days after delivery. RESULTS Of the 1 341 715 pregnancies that met inclusion criteria (mean [SD] age of women, 24.02 [5.77] years), 9258 (0.69%) filled at least 1 prescription for an atypical AP and 733 (0.05%) filled at least 1 prescription for a typical AP during the first trimester. Overall, 32.7 (95% CI, 32.4–33.0) per 1000 births not exposed to APs were diagnosed with congenital malformations compared with 44.5 (95% CI, 40.5–48.9) per 1000 births exposed to atypical and 38.2 (95% CI, 26.6–54.7) per 1000 births exposed to typical APs. Unadjusted analyses suggested an increased risk for malformations overall for atypical APs (RR, 1.36; 95% CI, 1.24–1.50) but not for typical APs (RR, 1.17; 95

Antipsychotic Use in Pregnancy and the Risk for Congenital Malformations.

PubMed

Huybrechts, Krista F; Hernández-Díaz, Sonia; Patorno, Elisabetta; Desai, Rishi J; Mogun, Helen; Dejene, Sara Z; Cohen, Jacqueline M; Panchaud, Alice; Cohen, Lee; Bateman, Brian T

2016-09-01

The frequency of antipsychotic (AP) use during pregnancy has approximately doubled during the last decade. However, little is known about their safety for the developing fetus, and concerns have been raised about a potential association with congenital malformations. To examine the risk for congenital malformations overall and cardiac malformations associated with first-trimester exposure to APs. This nationwide sample of 1 360 101 pregnant women enrolled in Medicaid with a live-born infant constituted the pregnancy cohort nested in the Medicaid Analytic Extract database, which included data from January 1, 2000, to December 31, 2010. Participants were enrolled in Medicaid from 3 months before their last menstrual period through at least 1 month after delivery. Relative risks (RRs) were estimated using generalized linear models with fine stratification on the propensity score to control for the underlying psychiatric disorders and other potential confounders. Data were analyzed during 2015. Use of APs during the first trimester, the etiologically relevant period for organogenesis. Major congenital malformations overall and cardiac malformations identified during the first 90 days after delivery. Of the 1 341 715 pregnancies that met inclusion criteria (mean [SD] age of women, 24.02 [5.77] years), 9258 (0.69%) filled at least 1 prescription for an atypical AP and 733 (0.05%) filled at least 1 prescription for a typical AP during the first trimester. Overall, 32.7 (95% CI, 32.4-33.0) per 1000 births not exposed to APs were diagnosed with congenital malformations compared with 44.5 (95% CI, 40.5-48.9) per 1000 births exposed to atypical and 38.2 (95% CI, 26.6-54.7) per 1000 births exposed to typical APs. Unadjusted analyses suggested an increased risk for malformations overall for atypical APs (RR, 1.36; 95% CI, 1.24-1.50) but not for typical APs (RR, 1.17; 95% CI, 0.81-1.68). After confounding adjustment, the RR was reduced to 1.05 (95% CI, 0.96-1.16) for

A prospective controlled study of sleep respiratory events in patients with craniovertebral junction malformation.

PubMed

Botelho, Ricardo Vieira; Bittencourt, Lia Rita Azeredo; Rotta, José Marcos; Tufik, Sergio

2003-12-01

Craniovertebral junction malformation (CVJM) or Chiari malformation in adults, with or without syringomyelia and basilar invagination, produces neuronal dysfunction of the brainstem, cerebellum, cranial nerves, and upper spinal cord. The respiratory center and some of its afferent and efferent components can be altered in these diseases. The authors studied patients with and without CVJM to determine whether this physical feature contributed to sleep disturbances. Respiratory manifestations during sleep were studied prospectively, by using whole-night polysomnography, in 32 symptomatic patients (CVJM group) and 16 healthy volunteers (control group). Patients with CVJM presented with more sleep disturbances (reports of snoring and apnea) than those in the control group. The apnea/hypopnea index values were higher in patients with CVJMs than in the control group (13 +/- 15 compared with 3 +/- 6; p = 0.007) and the rate of central sleep apneas was higher in the CVJM than in the control group (22 +/- 30 compared with 4 +/- 8%; p = 0.009). The apnea/hypopnea index was highest in the subgroup with basilar invagination than in the other subgroups. The central apneic episodes were more frequent in the patients with basilar invagination (35 +/- 40%; p = 0.001) and in those with syringomyelia (17.6 +/- 24.6%; p = 0.003) than in the control group (4 +/- 8%). Patients with symptomatic CVJM, especially those with basilar invagination, presented with more sleep respiratory compromise than did those in the control group. The incidence of sleep apnea/hypopnea syndrome is significantly higher in patients with CVJM.

Congenital malformations in offspring of women with a history of malignancy.

PubMed

Sabeti Rad, Zahra; Friberg, Britt; Henic, Emir; Rylander, Lars; Ståhl, Olof; Källén, Bengt; Lingman, Göran

2017-02-15

Survival after malignancy has increased and the question of risks, including risk for congenital malformations for the offspring of these women has become important. Data on congenital malformations in such offspring are limited. We compared congenital malformation in offspring, born 1994 to 2011 of women with a history of malignancy (at least 1 year before delivery) with all other offspring. Adjustment for confounders was mainly made by Mantel-Haenszel methodology. Data were obtained by linkage between Swedish national health registers. We identified 71,954 (4.1%) infants with congenital malformation, of which 47,081 (2.7%) were relatively severe (roughly corresponding to major malformation). Among 7284 infants to women with a history of malignancy 204 relatively severe malformations were found (2.8%; odds ratio [OR] = 1.04; 95% confidence interval [CI], 0.91-1.20). After in vitro fertilization, the risk of a relatively severe malformation was significantly increased in women without a history of malignancy (OR = 1.31; 95% CI, 1.24-1.38) and still more in women with such a history (risk ratio = 1.85; 95% CI, 1.08-2.97). However, there were no significant differences neither, for any malformations (OR = 1.04; 95% CI, 0.92-1.16) nor for relatively severe malformations (OR = 1.04; 95% CI, 0.91-1.20), when comparing offspring only after maternal history of malignancy. No general increase in malformation rate was found in infants born to women with a history of malignancy. A previously known increased risk after in vitro fertilization was verified and it is possible that this risk is further augmented among infants born of women with a history of malignancy. Birth Defects Research 109:224-233, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Type I Chiari malformation presenting central sleep apnea.

PubMed

Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

2014-04-01

Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

ERIC Educational Resources Information Center

ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

2009-01-01

A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

Congenital Malformations in River Buffalo (Bubalus bubalis)

PubMed Central

Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

2017-01-01

Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

Tethered Spinal Cord Syndrome

MedlinePlus

... the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the ... the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the ...

Concomitant intramedullary arteriovenous malformation and a vertebral hemangioma of cervical spine discovered by a pathologic fracture during bicycle accident.

PubMed

Ayhan, Selim; Palaoglu, Selcuk; Geyik, Serdar; Saatci, Isil; Onal, Mehmet Bulent

2015-01-01

Spinal intramedullary arteriovenous malformations are uncommon and a challenging type of neurosurgical entities. They are rarely located to cervical segment. On the other hand, although hemangiomas are relatively common bone tumors, cervical involvement is again rare and clinically significant ones are infrequent. A 14 year-old-male patient referred to an academic tertiary care unit and presented with neck pain and left hand weakness. Neurological examination revealed motor strength deficit at intrinsic muscles and hyperesthesia at the left hand. Furthermore the pathological reflexes were positive on the left hand side. Imaging studies showed compression fracture, lytic changes resembling a hemangioma at C7 vertebra, and also an intramedullary vascular pathology at C5-6 level which was shown to be an intradural-intramedullary arteriovenous malformation (AVM) on digital subtraction angiography. Based on neurological and radiological findings, the decision was to treat the patient. After embolization of the AVM, the neurological condition of the patient deteriorated and immediate MRI scan of the cervical spine revealed edema of the spinal cord at the C5-6 level. Thus an emergent surgery was performed and C5-6-7 laminectomies with C5-T2 posterior fixation and arthrodesis were implemented. A second stage operation was carried out as C7 corpectomy with a distractable titanium cage 2 weeks after initial surgery. A follow-up evaluation at five years revealed 4/5 motor strength on his left intrinsic hand muscles and mild hyperactive deep tendon reflexes. Imaging studies at the postoperative period showed stable placement of the construct and no evidence of contrast enhancement at the C5-6 level inside the spinal cord. A rare case of multiple pathologies affecting the cervical spine, coincidentally diagnosed after a pathological fracture during a bicycle accident as vertebral hemangioma and intradural-intramedullary AVM that was successfully treated with early detection

[Anatomy and malformations of the posterior cranial fossa].

PubMed

Struffert, T

2016-11-01

Many important structures are located in the confined space within the posterior cranial fossa. This article describes the main aspects of the anatomy. As a uniform classification of malformations of the posterior cranial fossa does not exist the main syndromes, such as Chiari malformations, zerebellar hypoplasia and dysplasia are discussed separately.

Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety.

PubMed

Teusch, Veronika I; Wohlgemuth, Walter A; Hammer, Simone; Piehler, Armin P; Müller-Wille, René; Goessmann, Holger; Uller, Wibke

2017-12-01

In the treatment of venous malformations, ethanol may be administered in a gelified form to increase local effects and reduce systemic ones. The purpose of this prospective study was to evaluate the efficacy and safety of a commercially available viscous ethanol gel in the treatment of venous malformations. Thirty-one patients (mean age, 23.4 years; age range, 6.6-46.5 years) with venous malformations were prospectively scheduled for two ethanol-gel sclerotherapy sessions. Venous malformations were located at the lower extremity (n = 18), the upper extremity (n = 9), and the face (n = 4). Questionnaires to assess pain, clinical examinations, professional photographs, and contrast-enhanced MRI of the venous malformations were performed before and after therapy to measure therapy-induced changes. Two experienced radiologists blinded to the examination date and clinical status compared photographs and MR images before and after treatment. A mean of 4.2 mL of ethanol gel were administered per session. The technical success rate was 100%. Clinical success, defined as improvement or resolution of symptoms, was noted in 81% of patients. Mean pain score decreased, and the difference was statistically significant (3.9 vs 3.1, p = 0.005). In 54 treatment sessions where follow-up was available, four minor complications occurred. Comparison of photographs and MR images before and after treatment showed improvement in 35% and 93% of patients, respectively. Ethanol gel is an effective and safe sclerosing agent in the treatment of venous malformations.

Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

PubMed

Raghunath, Azhwar; Perumal, Ekambaram

2018-01-01

The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

Neurodevelopmental Malformations of the Cerebellar Vermis in Genetically Engineered Rats.

PubMed

Ramos, Raddy L; Van Dine, Sarah E; Gilbert, Mary E; Leheste, Joerg R; Torres, German

2015-12-01

The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformations are almost exclusively found along the primary fissure and are indicative of deficits of neuronal migration during cerebellar development. In the present report, we test the prediction that genetically engineered rats on Sprague-Dawley or Long-Evans backgrounds will also exhibit the same cerebellar malformations. Consistent with our hypothesis, we found that three different transgenic lines on two different backgrounds had cerebellar malformations. Heterotopia in transgenic rats had identical cytoarchitecture as that observed in wild-type rats including altered morphology of Bergmann glia. In light of the possibility that heterotopia could affect results from behavioral studies, these data suggest that histological analyses be performed in studies of cerebellar function or development when using genetically engineered rats on these backgrounds in order to have more careful interpretation of experimental findings.

Imaging of head and neck venous malformations.

PubMed

Flis, Christine M; Connor, Stephen E

2005-10-01

Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team.

Amphibian malformations and body condition across an agricultural landscape of northwest Argentina.

PubMed

Guerra, Cecilia; Aráoz, Ezequiel

2016-09-26

Agricultural landscapes support large amphibian populations because they provide habitat for many species, although agriculture affects amphibians through various mechanisms. Pollution with agrochemicals is the major threat to amphibian populations after habitat loss, as chemicals alter the ecophysiology of amphibians, putting their health and survival at risk. We aimed to assess the effect of different environments, sites, width of forest buffers and sampling years on the health of amphibians, which was estimated through the prevalence of malformations and body condition. During 3 yr of pitfall trapping, we captured 4491 amphibians. The prevalence of malformations was higher in the croplands than in the forests, while the body condition was better within forests. The prevalence of malformations was higher in the narrower forest site than in the wider forest site. The prevalence of malformations and the body condition were higher in the third year. The prevalence of malformations differed by species. We found 11 types of malformation, which mainly affected limbs and were unilateral or bilaterally asymmetrical. Our results showed that the prevalence of malformations and body condition reflect different aspects of the health of amphibians and that forest individuals are healthier than those from croplands. The results also highlight the importance of spatial configuration besides the conservation of natural habitats to preserve healthy amphibians in agricultural landscapes. The types of malformation that we found suggest that agrochemicals could be an important cause of malformations.

Familial Aggregation of Chiari Malformation: Presentation, Pedigree, and Review of the Literature.

PubMed

Nagy, Laszlo; Mobley, James; Ray, Coby

2016-01-01

This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the transmission of Chiari malformation. The family reported in this study also has a significant incidence of Ehlers-Danlos. Three sisters, including a set of twins, presented with confirmed cases of Chiari malformation and four of the five children of the twin sisters presented with confirmed or suspected Chiari malformation. Of note, the non-twin sister has three children who are unaffected. This report provides further evidence for a shared loci between the Chiari malformation and Ehlers-Danlos.

Transverse Sinus Stenosis in Adult Patients With Chiari Malformation Type I

PubMed Central

Saindane, Amit M.; Bruce, Beau B.; Desai, Nilesh K.; Roller, Lauren A.; Newman, Nancy J.; Biousse, Valérie

2014-01-01

OBJECTIVE Transverse sinus stenosis is an imaging finding very highly associated with elevated intracranial pressure (ICP). Patients with the Chiari I malformation may potentially have elevated ICP due to impairment of CSF flow at the foramen magnum. This study evaluated whether patients with Chiari I malformation have transverse sinus stenosis and other imaging findings indicative of elevated ICP. MATERIALS AND METHODS Thirty patients with Chiari I malformation treated surgically and 76 control subjects were identified retrospectively. All control subjects and all patients with Chiari I malformation (preoperatively) underwent standardized contrast-enhanced brain MRI including a contrast-enhanced 3D T1-weighted sequence from which curved reformats of the transverse sinuses were generated. Two different readers blinded to the diagnosis then independently evaluated these curved reformats for severity of transverse sinus stenosis. Orbital and skull-base findings previously described in association with elevated ICP were also evaluated. Frequency of MRI findings between the two groups was compared. RESULTS Patients with Chiari I malformation had significantly greater frequency of unilateral or bilateral transverse sinus stenosis than did control subjects (p < 0.001). There was complete interreader agreement on presence or absence of transverse sinus stenosis by patient (κ = 1.0 [95% CI, 0.89–1.0]). Logistic regression analysis controlling for age, sex, and body mass index found that transverse sinus stenosis significantly predicted Chiari I malformation versus control status (odds ratio, 11.2 [95% CI, 2.1–59.0]; p = 0.004) but that no other features were significantly associated with the Chiari I malformation. Patients with Chiari I malformation who had transverse sinus stenosis had significantly greater pituitary flattening than did those without transverse sinus stenosis (p = 0.02). CONCLUSION Patients with Chiari I malformation have higher likelihood of trans

Transverse sinus stenosis in adult patients with Chiari malformation type I.

PubMed

Saindane, Amit M; Bruce, Beau B; Desai, Nilesh K; Roller, Lauren A; Newman, Nancy J; Biousse, Valérie

2014-10-01

Transverse sinus stenosis is an imaging finding very highly associated with elevated intracranial pressure (ICP). Patients with the Chiari I malformation may potentially have elevated ICP due to impairment of CSF flow at the foramen magnum. This study evaluated whether patients with Chiari I malformation have transverse sinus stenosis and other imaging findings indicative of elevated ICP. Thirty patients with Chiari I malformation treated surgically and 76 control subjects were identified retrospectively. All control subjects and all patients with Chiari I malformation (preoperatively) underwent standardized contrast-enhanced brain MRI including a contrast-enhanced 3D T1-weighted sequence from which curved reformats of the transverse sinuses were generated. Two different readers blinded to the diagnosis then independently evaluated these curved reformats for severity of transverse sinus stenosis. Orbital and skull-base findings previously described in association with elevated ICP were also evaluated. Frequency of MRI findings between the two groups was compared. Patients with Chiari I malformation had significantly greater frequency of unilateral or bilateral transverse sinus stenosis than did control subjects (p < 0.001). There was complete interreader agreement on presence or absence of transverse sinus stenosis by patient (κ = 1.0 [95% CI, 0.89-1.0]). Logistic regression analysis controlling for age, sex, and body mass index found that transverse sinus stenosis significantly predicted Chiari I malformation versus control status (odds ratio, 11.2 [95% CI, 2.1-59.0]; p = 0.004) but that no other features were significantly associated with the Chiari I malformation. Patients with Chiari I malformation who had transverse sinus stenosis had significantly greater pituitary flattening than did those without transverse sinus stenosis (p = 0.02). Patients with Chiari I malformation have higher likelihood of transverse sinus stenosis, which may reflect associated

Algebraic techniques for diagonalization of a split quaternion matrix in split quaternionic mechanics

DOE Office of Scientific and Technical Information (OSTI.GOV)

Jiang, Tongsong, E-mail: jiangtongsong@sina.com; Department of Mathematics, Heze University, Heze, Shandong 274015; Jiang, Ziwu

In the study of the relation between complexified classical and non-Hermitian quantum mechanics, physicists found that there are links to quaternionic and split quaternionic mechanics, and this leads to the possibility of employing algebraic techniques of split quaternions to tackle some problems in complexified classical and quantum mechanics. This paper, by means of real representation of a split quaternion matrix, studies the problem of diagonalization of a split quaternion matrix and gives algebraic techniques for diagonalization of split quaternion matrices in split quaternionic mechanics.

Life-threatening haemothorax: a rare presentation of pulmonary arteriovenous malformation.

PubMed

Kundu, Somenath; Mitra, Subhra; Mukherjee, Shubhasis; Chakravorty, Anushree

2010-11-01

Arteriovenous malformations of the lung are rare pulmonary vascular disorders which can suddenly lead to life threatening complications. Haemothorax due to rupture of a pulmonary arteriovenous malformation (PAVM) is very rare. We report here a case of a 39 year-old lady who presented with an acute onset of shortness of breath due to right-sided massive haemothorax and was subsequently detected to have pulmonary as well as cerebral arteriovenous malformation (CAVM).

Chiari Malformation

MedlinePlus

... symptoms may vary among individuals and may include: neck pain hearing or balance problems muscle weakness or numbness ... hands. Some individuals also have severe arm and neck pain. Tethered cord syndrome occurs when a child’s spinal ...

Trematode infection causes malformations and population effects in a declining New Zealand fish.

PubMed

Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

2010-03-01

1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered.

[Advances in genetics of congenital malformation of external and middle ear].

PubMed

Wang, Dayong; Wang, Qiuju

2013-05-01

Congenital malformation of external and middle ear is a common disease in ENT department, and the incidence of this disease is second only to cleft lip and palate in the whole congenital malformations of the head and face. The external and middle ear malformations may occur separately, or as an important ear symptom of the systemic syndrome. We systematically review and analysis the genetic research progress of congenital malformation of external and middle ear, which would be helpful to understand the mechanism of external and middle ear development, and to provide clues for the further discovery of new virulence genes.

Associations between petrol-station density and manganese and lead in the cord blood of newborns living in Taiwan.

PubMed

Lin, Ying-Ying; Guo, Yue-Liang Leon; Chen, Pau-Chung; Liu, Jyung-Hung; Wu, Hui-Chen; Hwang, Yaw-Huei

2011-02-01

Although the anti-knocking agents used in Taiwan do not contain manganese, there are relatively high concentrations of the element in diesel fuel. As such, there have been many concerns about the impact of exposure to diesel fuels on health. This study was conducted in Taiwan to investigate the relationship between the concentration of manganese in cord blood of Taiwanese newborns and the geographic density of petrol stations as a surrogate for determining manganese emissions from vehicular traffic. A total of 1526 full-term newborns without major congenital malformations were consecutively recruited from various medical facilities from May 2004 to July 2005. Questionnaires were completed by the newborns' mothers after delivery to collect information on demographic characteristics, medical history, living environment, and other factors. Cord blood samples were collected at birth and analyzed for manganese and lead using inductively coupled plasma mass spectrometry. The geographic density of petrol stations within a 10 km zone around each newborn's residence was calculated for 1343 newborns using the Arc9 Geographic Information System. The geometric means of cord blood manganese and lead concentrations were 47.0 μg/L (GSD=1.42) and 12.6 μg/L (GSD=1.76), respectively. After adjusting for potential confounding factors, including maternal age, and maternal education, the results of a multiple linear regression model indicated that the concentration of cord blood manganese increased monotonically with an increasing density of petrol stations. However, no such association was found for levels of lead in cord blood. Further smoothing spline model analysis indicated that a ten unit increment in petrol station density made cord blood manganese and lead levels change by factors of 1.0092 (95% CI: 1.0058, 1.0127) and 0.9994 (95% CI: 0.9890, 0.9998), respectively. This finding suggests that exposure to manganese-containing fuel from motor vehicles may result in elevated

Epilepsy surgery in patients with malformations of cortical development.

PubMed

Lüders, Hans; Schuele, Stephan U

2006-04-01

Patients with malformations of cortical development often suffer from intractable focal epilepsy. This review considers recent progress in the selection and seizure outcome of patients undergoing resective epilepsy surgery for this condition. Patients with malformations of cortical development restricted to part or even a whole hemisphere may be candidates for epilepsy surgery even when, due to microscopic malformations, magnetic resonance imaging shows no detectable lesion. Despite recent advances in structural and functional imaging, the majority of patients with this condition undergo invasive evaluation. Patients with focal cortical dysplasia, with and without a detectable lesion on magnetic resonance imaging, often have a favorable outcome with epilepsy surgery. The underlying pathological substrate seems to be a better predictor for surgical outcome in patients with focal cortical dysplasia than the presence of a lesion on magnetic resonance imaging. Epilepsy surgery can be offered in a highly selected subgroup of patients with unilateral nodular heterotopia. Seizures in hemimegalencephaly may respond favorably to hemispherectomy, although most children will continue to have seizures and significant functional impairments. Patients with focal epilepsy due to malformations of cortical development are often intractable to medical management. Resective epilepsy surgery can be beneficial, particularly for patients with focal cortical dysplasia and unilateral hemispheric malformations.

Dandy-Walker malformation: analysis of 19 cases.

PubMed

Alexiou, George A; Sfakianos, George; Prodromou, Neofytos

2010-02-01

Dandy-Walker malformation is a congenital disorder that involves the cerebellum and fourth ventricle. Regarding treatment, there is still controversy over the optimum surgical management. In the current study, we present 19 consecutive cases of Dandy-Walker malformation diagnosed between January 1992 and January 2008 that were treated in our institute. All patients presented with hydrocephalus at the time of diagnosis and were treated surgically. Combined drainage of the ventricular system and posterior fossa cyst, using a 3-way connector was performed in 5 patients. Posterior fossa cyst drainage alone was performed in 10 patients and the remaining 4 patients were treated by ventricular drainage alone. All patients improved after treatment. Dandy-Walker malformation is a developmental abnormality of the central nervous system associated with various brain and extracranial abnormalities. Surgical treatment remains controversial, whereas prognosis varies greatly according to the severity of syndrome and associated comorbidities.

Numerical modeling process of embolization arteriovenous malformation

NASA Astrophysics Data System (ADS)

Cherevko, A. A.; Gologush, T. S.; Petrenko, I. A.; Ostapenko, V. V.

2017-10-01

Cerebral arteriovenous malformation is a difficult, dangerous, and most frequently encountered vascular failure of development. It consists of vessels of very small diameter, which perform a discharge of blood from the artery to the vein. In this regard it can be adequately modeled using porous medium. Endovascular embolization of arteriovenous malformation is effective treatment of such pathologies. However, the danger of intraoperative rupture during embolization still exists. The purpose is to model this process and build an optimization algorithm for arteriovenous malformation embolization. To study the different embolization variants, the initial-boundary value problems, describing the process of embolization, were solved numerically by using a new modification of CABARET scheme. The essential moments of embolization process were modeled in our numerical experiments. This approach well reproduces the essential features of discontinuous two-phase flows, arising in the embolization problems. It can be used for further study on the process of embolization.

[Poland'syndrome and hand's malformations: about a clinic series of 37 patients].

PubMed

Foucras, L; Grolleau, J L; Chavoin, J P

2005-04-01

Poland's syndrome is a rare malformation which associates thoracic anomalies and anomalies of homolateral upper end. We wish to know the frequency of hand's malformations in this syndrome in our clinical experience. We have revised 37 patients who were seen initially for a thoracomammary anomaly. This clinical series from plastic surgery service of Toulouse has been revised to know the importance of hand's malformations. Hand's malformations in Poland's syndrome are rare in your study, they touch only 12% patients. We find only 4 malformations in 33 patients, four were lost. They were only females, we find three brachymesophalangies and a major form. Hand's malformations in Poland's syndrome are less frequent than classically. There is no parallelism between gravity of thoracic malformation and that one of upper end. In this series, we find only one case with syndactyly; originally, Poland's syndrome was named < Poland's syndactyly >. Finally, we think that we can talk about Poland's syndrome without anomaly of homolateral upper end, the major element is musculary agenesia of sternocostal pectoralis major. The search of homolateral upper end has to be systematic in front of suspicious of Poland's syndrome.

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in

PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. Onmore » follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.« less

Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

PubMed

Istek, Seref

2014-06-04

Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. 2014 BMJ Publishing Group Ltd.

Comparative transcriptomic analyses of normal and malformed flowers in sugar apple (Annona squamosa L.) to identify the differential expressed genes between normal and malformed flowers.

PubMed

Liu, Kaidong; Li, Haili; Li, Weijin; Zhong, Jundi; Chen, Yan; Shen, Chenjia; Yuan, Changchun

2017-10-23

Sugar apple (Annona squamosa L.), a popular fruit with high medicinal and nutritional properties, is widely cultivated in tropical South Asia and America. The malformed flower is a major cause for a reduction in production of sugar apple. However, little information is available on the differences between normal and malformed flowers of sugar apple. To gain a comprehensive perspective on the differences between normal and malformed flowers of sugar apple, cDNA libraries from normal and malformation flowers were prepared independently for Illumina sequencing. The data generated a total of 70,189,896 reads that were integrated and assembled into 55,097 unigenes with a mean length of 783 bp. A large number of differentially expressed genes (DEGs) were identified. Among these DEGs, 701 flower development-associated transcript factor encoding genes were included. Furthermore, a large number of flowering- and hormone-related DEGs were also identified, and most of these genes were down-regulated expressed in the malformation flowers. The expression levels of 15 selected genes were validated using quantitative-PCR. The contents of several endogenous hormones were measured. The malformed flowers displayed lower endogenous hormone levels compared to the normal flowers. The expression data as well as hormone levels in our study will serve as a comprehensive resource for investigating the regulation mechanism involved in floral organ development in sugar apple.

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cornelis, F., E-mail: francoiscornelis@hotmail.com; Neuville, A.; Labreze, C.

The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

Dynamic MRI for distinguishing high-flow from low-flow peripheral vascular malformations.

PubMed

Ohgiya, Yoshimitsu; Hashimoto, Toshi; Gokan, Takehiko; Watanabe, Shouji; Kuroda, Masayoshi; Hirose, Masanori; Matsui, Seishi; Nobusawa, Hiroshi; Kitanosono, Takashi; Munechika, Hirotsugu

2005-11-01

The purpose of our study was to assess the usefulness of dynamic MRI in distinguishing high-flow vascular malformations from low-flow vascular malformations, which do not need angiography for treatment. Between September 2001 and January 2003, 16 patients who underwent conventional and dynamic MRI had peripheral vascular malformations (six high- and 10 low-flow). The temporal resolution of dynamic MRI was 5 sec. Time intervals between beginning of enhancement of an arterial branch in the vicinity of a lesion in the same slice and the onset of enhancement in the lesion were calculated. We defined these time intervals as "artery-lesion enhancement time." Time intervals between the onset of enhancement in the lesion and the time of the maximal percentage of enhancement above baseline of the lesion within 120 sec were measured. We defined these time intervals as "contrast rise time" of the lesion. Diagnosis of the peripheral vascular malformations was based on angiographic or venographic findings. The mean artery-lesion enhancement time of the high-flow vascular malformations (3.3 sec [range, 0-5 sec]) was significantly shorter than that of the low-flow vascular malformations (8.8 sec [range, 0-20 sec]) (Mann-Whitney test, p < 0.05). The mean maximal lesion enhancement time of the high-flow vascular malformations (5.8 sec [range, 5-10 sec]) was significantly shorter than that of the low-flow vascular malformations (88.4 sec [range, 50-100 sec]) (Mann-Whitney test, p < 0.01). Dynamic MRI is useful for distinguishing high-flow from low-flow vascular malformations, especially when the contrast rise time of the lesion is measured.

Bad splits in bilateral sagittal split osteotomy: systematic review of fracture patterns.

PubMed

Steenen, S A; Becking, A G

2016-07-01

An unfavourable and unanticipated pattern of the mandibular sagittal split osteotomy is generally referred to as a 'bad split'. Few restorative techniques to manage the situation have been described. In this article, a classification of reported bad split pattern types is proposed and appropriate salvage procedures to manage the different types of undesired fracture are presented. A systematic review was undertaken, yielding a total of 33 studies published between 1971 and 2015. These reported a total of 458 cases of bad splits among 19,527 sagittal ramus osteotomies in 10,271 patients. The total reported incidence of bad split was 2.3% of sagittal splits. The most frequently encountered were buccal plate fractures of the proximal segment (types 1A-F) and lingual fractures of the distal segment (types 2A and 2B). Coronoid fractures (type 3) and condylar neck fractures (type 4) have seldom been reported. The various types of bad split may require different salvage approaches. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Chiari I malformation as part of the Floating-Harbor syndrome?

PubMed

Kurzbuch, Arthur R; Magdum, Shailendra

2016-12-01

We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

EPA Science Inventory

The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

Atlas Assimilation Patterns in Different Types of Adult Craniocervical Junction Malformations.

PubMed

Ferreira, Edson Dener Zandonadi; Botelho, Ricardo Vieira

2015-11-01

This is a cross-sectional analysis of resonance magnetic images of 111 patients with craniocervical malformations and those of normal subjects. To test the hypothesis that atlas assimilation is associated with basilar invagination (BI) and atlas's anterior arch assimilation is associated with craniocervical instability and type I BI. Atlas assimilation is the most common malformation in the craniocervical junction. This condition has been associated with craniocervical instability and BI in isolated cases. We evaluated midline Magnetic Resonance Images (MRIs) (and/or CT scans) from patients with craniocervical junction malformation and normal subjects. The patients were separated into 3 groups: Chiari type I malformation, BI type I, and type II. The atlas assimilations were classified according to their embryological origins as follows: posterior, anterior, and both arches assimilation. We studied the craniometric values of 111 subjects, 78 with craniocervical junction malformation and 33 without malformations. Of the 78 malformations, 51 patients had Chiari type I and 27 had BI, of whom 10 presented with type I and 17 with type II BI. In the Chiari group, 41 showed no assimilation of the atlas. In the type I BI group, all patients presented with anterior arch assimilation, either in isolation or associated with assimilation of the posterior arch. 63% of the patients with type II BI presented with posterior arch assimilation, either in isolation or associated with anterior arch assimilation. In the control group, no patients had atlas assimilation. Anterior atlas assimilation leads to type I BI. Posterior atlas assimilation more frequently leads to type II BI. Separation in terms of anterior versus posterior atlas assimilation reflects a more accurate understanding of the clinical and embryological differences in craniocervical junction malformations. N/A.

[Cerebrovenous orthostatic reactivity in pathology of the craniovertebral junction (Chiari malformation)].

PubMed

Shakhnovich, V A; Mitrofanova, E V; Shimanskiy, V N; Konovalov, N A; Shkarubo, A N

2015-01-01

Chiari malformation is characterized by herniation of the cerebellar tonsils into the foramen magnum, which leads to disturbance of CSF circulation through the craniovertebral junction. Orthostatic stress, which leads to the movement of SCF through the craniovertebral junction, is an adequate method to detect these disorders. It is accompanied by changes in the intracranial pressure, affecting the cerebrovenous orthostatic reactivity (CVOR), which is noninvasively assessed in patients with Chiari malformation. The study involved 35 patients with Chiari malformation (26 patients with Chiari I and 9 patients with Chiari II) aged 4 to 58 years (of them 12 males). Hydrocephalus was diagnosed in 4 examined patients and myelosyringosis was diagnosed in 6 patients. Transcranial Doppler sonography was used to record the venous blood flow in the tentorial sinus of the brain while changing body position on the fracture table from +90° to -30°. There is significant CVOR abnormality in most patients with Chiari malformation (more than 90%), which is characterized by either increased CVOR (sometimes 5-6-fold compared to the upper normal level (considerable hyperreactivity) or complete absence of any changes during the orthostatic load (areactivity). Before surgical treatment, CVOR of patients with Chiari malformation is often characterized by areactivity, as well as a moderate or significant hyperreactivity. After surgical treatment (decompression of the foramen magnum), patients with Chiari malformation demonstrate significant normalization of the craniovertebral volumetric ratios and CVOR if often characterized by normoreactivity (in 63%) or, more rarely, moderate hyperreactivity. The rate of venous blood flow in the tentorial sinus of the brain in patients with Chiari malformation can be increased before the surgery and normalizes after surgery. The high incidence of disturbance of CVOR (over 90%) in patients with Chiari malformation was revealed. After surgical treatment

Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

PubMed

Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

2011-11-01

One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, P<0.0001; hypospadias, P=0.0021; OFC, P=0.005; polydactyly, P=0.0867; syndactyly, P=0.1941; and accessory auricle anomaly, P=0.0011. The upward trend was as follows: CHD (P=0.0026), intestinal atresia/stenosis (P=0.0103), kidney malformations (P<0.0001), hypospadias (P=0.0021), OFC (P=0.005), and accessory auricle anomaly (P=0.0011). The incidence of hydrocephalus (P=0.0042) showed a downward trend. No statistical significant trend was found in anorectal malformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations

Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

PubMed

Mery, Carlos M; De León, Luis E; Rodriguez, J Rubén; Nieto, R Michael; Zhang, Wei; Adachi, Iki; Heinle, Jeffrey S; Kane, Lauren C; McKenzie, E Dean; Fraser, Charles D

2017-11-01

The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p < 0.001), longer intubation times (p = 0.002), and higher perioperative death (p = 0.015) than controls. There was a tendency for worse overall survival than controls, mainly explained by the higher risk of early death (p = 0.06). No difference was found in outcomes between patients with abdominal GI malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Recurrent High-Flow Arterio-Venous Malformation of the Thyroid Gland.

PubMed

Borchert, D H; Massmann, A; Kim, Y J; Bader, C A; Wolf, G; Eisele, R; Minko, P; Bücker, A; Glanemann, M

2015-09-01

Vascular malformations and hemangiomas of the thyroid gland are rare disorders. The first case of a patient with recurrent high-flow arterio-venous malformation of the right thyroid gland involving the right endolarynx is presented. In June 2013, a 42-year-old female patient presented to the surgical department with recurrent hoarseness and a soft, vibrating mass on the right side of her neck. In 1993, she underwent right subtotal hemithyroidectomy with embolization on the day before surgery for a high-flow arterio-venous malformation of the thyroid gland. Diagnostic work-up in 2013 demonstrated a complex recurrent high-flow arterio-venous malformation on the right side of her neck involving the endolarynx. Full function of the right vocal fold could not be ascertained. The lesion was embolized again and excised the following day. Intraoperative gross bleeding and scar tissue prevented visualization and monitoring of the recurrent laryngeal nerve. Gross bleeding was also noted on hemithyroidectomy after embolization in 1993. No therapy was needed for the endolaryngeal part of the lesion. Histology showed large arterio-venous malformations with thyroid tissue. She remains well without signs of recurrence 18 month later but with a definitive voice handicap. This is the first report of a recurrent high-flow arterio-venous malformation originally developing from the right thyroid gland involving the right endolarynx. Counseling, diagnostic, and therapeutic work-up of the patient was possible only with an interdisciplinary team. The endolaryngeal part of the hemangioma dried out after embolization and completion hemithyroidectomy. Her hoarseness has greatly improved but a definitive voice handicap remains. High-flow arterio-venous malformations of the thyroid gland are a rare disease, and recurrent lesions have not been reported. Interdisciplinary management of these patients is mandatory due to the complex nature of the underlying pathology. Recurrence might develop

Papilloedema due to Chiari I malformation

PubMed Central

Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S

2011-01-01

The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation. PMID:22675036

Defining anural malformations in the context of a developmental problem

USGS Publications Warehouse

Meteyer, C.U.; Cole, Rebecca A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

A proposal for classification of entities combining vascular malformations and deregulated growth.

PubMed

Oduber, Charlène E U; van der Horst, Chantal M A M; Sillevis Smitt, J Henk; Smeulders, Mark J C; Mendiratta, Vibhu; Harper, John I; van Steensel, Maurice A M; Hennekam, Raoul C M

2011-01-01

Agreement on terminology and nomenclature is fundamental and essential for effective exchange of information between clinicians and researchers. An adequate terminology to describe all patients showing vascular malformations combined with deregulated growth is at present not available. To propose a classification of patients with vascular malformations, not restricted to the face, and growth disturbances based on simple, clinically visible characteristics, on which clinicians and researchers can comment and which should eventually lead to an internationally accepted classification. Rooted in our joint experience we established a classification of vascular malformation not limited to the face, with growth disturbances. It is based on the nature and localization of the vascular malformations; the nature, localization and timing of growth disturbances; the nature of co-localization of the vascular malformations and growth disturbances; the presence or absence of other features. Subsequently a mixed (experienced and non-experienced) group of observers evaluated 146 patients (106 from the Netherlands; 40 from the UK) with vascular malformations and disturbed growth, using the classification. Inter-observer variability was assessed by estimating the Intra-Class Correlation (ICC) coefficient and its 95% confidence interval. We defined 6 subgroups within the group of entities with vascular malformation-deregulated growth. Scoring the patients using the proposed classification yielded a high inter-observer reproducibility (ICC varying between 0.747 and 0.895 for all levels of flow). The presently proposed classification was found to be reliable and easy to use for patients with vascular malformations with growth disturbances. We invite both clinicians and researchers to comment on the classification, in order to improve it further. This way we may obtain our final aim of an internationally accepted classification of patients, which should facilitate both clinical treatment

Evolution of congenital malformations of the umbilical-portal-hepatic venous system.

PubMed

Scalabre, Aurelien; Gorincour, Guillaume; Hery, Geraldine; Gamerre, Marc; Guys, Jean-Michel; de Lagausie, Pascal

2012-08-01

The objective of this study is to describe the evolution of 8 cases of congenital malformations of the umbilical-portal-hepatic venous system diagnosed before the first month of life. All cases of congenital malformation of the portal and hepatic venous system diagnosed prenatally or during the first month of life in our institution were systematically reviewed since November 2000. Clinical features, imaging, and anatomical findings were reviewed, focusing primarily on clinical and radiologic evolution. Eight cases of congenital malformation of the umbilical-portal-hepatic venous system were studied. Fifty percent of these malformations were diagnosed prenatally. We report 4 portosystemic shunts. Three involuted spontaneously, and the fourth one required surgical treatment. We report a variation of the usual anatomy of portal and hepatic veins that remained asymptomatic, an aneurysmal dilatation of a vitelline vein causing portal vein thrombosis that needed prompt surgical treatment with good result, a complex portal and hepatic venous malformation treated operatively, and a persistent right umbilical vein that remained asymptomatic. Prenatal diagnosis of malformations of the umbilical-portal-hepatic venous network is uncommon. Little is known about the postnatal prognosis. Clinical, biologic, and radiologic follow-up by ultrasonography is essential to distinguish pathologic situations from normal anatomical variants. Copyright © 2012 Elsevier Inc. All rights reserved.

Linking Brain Arteriovenous Malformations With Anorectal Hemorrhoids: A Clinical and Anatomical Review

PubMed Central

Cuoco, Joshua A.; Hoehmann, Christopher L.; Hitscherich, Kyle; Zakhary, Sherry M.; Leheste, Joerg R.

2017-01-01

ABSTRACT Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary‐coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease. We also propose that brain arteriovenous malformations might share certain signaling dimensions with those of anorectal hemorrhoids. This working hypothesis provides casual anchors from which to understand vascular diseases characterized by arteriovenous lesions with a hemorrhagic‐ or bleeding‐risk component. Anat Rec, 2017. © The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists. Anat Rec, 300:1973–1980, 2017. © 2017 The Authors. The Anatomical Record published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists. PMID:28696502

Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism.

PubMed

Pang, Chang Hwan; Lee, Soo Eon; Kim, Chi Heon; Chung, Chun Kee

2015-09-01

The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery.

Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism

PubMed Central

Pang, Chang Hwan; Kim, Chi Heon; Chung, Chun Kee

2015-01-01

The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery. PMID:26512271

Balloon-Occluded Retrograde Transvenous Embolization of a Pelvic Arteriovenous Malformation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke

1999-11-15

We successfully performed embolization therapy for a pelvic arteriovenous malformation by the retrograde transvenous approach using a liquid embolic material. This malformation was unique in that it had a single draining vein, which allowed this technique employing an occlusion balloon.

[Management of occult malformations at the lateral skull base].

PubMed

Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

2005-12-01

Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

The Dandy-Walker malformation. A review of 40 cases.

PubMed

Hirsch, J F; Pierre-Kahn, A; Renier, D; Sainte-Rose, C; Hoppe-Hirsch, E

1984-09-01

Forty cases of Dandy-Walker malformation referred to the Hôpital Necker Enfants-Malades between 1969 and 1982 have been reviewed. The incidence of the malformation in hydrocephalus was 2.4%. There was a slight, statistically insignificant, female prevalence. Hydrocephalus should not be included in the definition of the syndrome. In 80% of the cases, it was actually a post-natal complication of the malformation and most often developed within 3 months after birth. In 80% of the cases, a communication, although insufficient, was found between the dilated 4th ventricle and the subarachnoid space. Since this communication is probably established through the foramina of Luschka, the definition of the Dandy-Walker malformation should only include atresia of the foramen of Magendie. Associated brain and systemic malformations were numerous. Among facial anomalies, facial angiomas were found in 10% of our cases. The association of facial and cardiovascular anomalies favors the hypothesis that the onset of the malformation occurs between the formation and the migration of the cells of the neural crest (that is, between the 3rd and the 4th post-ovulatory week, earlier than previously thought). Except in selected patients, membrane excision has a high rate of failure and should be abandoned. Cyst-peritoneal shunting avoids the risk of an entrapped fourth ventricle and is presently the best surgical procedure. The overall mortality in this series was 12.5%. Intelligence quotients were over 80 in 60% of the patients. Other studies will be necessary to understand why the communication between the fourth ventricle and the subarachnoid spaces, sufficient in utero, usually becomes insufficient for a normal cerebrospinal fluid (CSF) circulation in the first months following birth. Two hypotheses are discussed: a change in CSF circulation, or bleeding in the dilated fourth ventricle during delivery.

Abernethy malformation with portal vein aneurysm in a child.

PubMed

Chandrashekhara, Sheragaru H; Bhalla, Ashu Seith; Gupta, Arun Kumar; Vikash, C S; Kabra, Susheel Kumar

2011-01-01

Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite.

Congenital malformations associated with assisted reproductive technology: a California statewide analysis.

PubMed

Kelley-Quon, Lorraine I; Tseng, Chi-Hong; Janzen, Carla; Shew, Stephen B

2013-06-01

Management of congenital malformations comprises a large part of pediatric surgical care. Despite increasing utilization of assisted reproductive technology (ART) and fertility-related services (FRS), associations with birth defects are poorly understood. Infants born after ART or FRS were identified from the California Linked Birth Cohort Dataset from 2006 to 2007 and compared to propensity matched infants conceived naturally. Factors associated with major congenital malformations were evaluated using Firth logistic regression. With a cohort of 4,795 infants born after ART and 46,025 naturally conceived matched controls, major congenital malformations were identified in 3,463 infants. Malformations were increased for ART infants (9.0% vs. 6.6%, p<0.001). After adjusting for infant and maternal factors, ART infants exhibited increased odds of major malformations overall (OR 1.25, 95% CI 1.12-1.39), specifically defects of the eye (OR 1.81, 95% CI 1.04-3.16), head and neck (OR 1.37, 95% CI 1.00-1.86), heart (OR 1.41, 95% CI 1.22-1.64), and genitourinary system (OR 1.40, 95% CI 1.09-1.82). The likelihood of birth defects was increased for multiples (OR 1.35, 95% CI 1.18-1.54) and not singletons. Odds of congenital malformation after FRS alone (n=1,749) were non-significant. ART contributes a significant risk of congenital malformation and may be more pronounced for multiples. Accurate counseling for parents considering ART and multidisciplinary coordination of care prior to delivery are warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

Urinary infection and malformations of urinary tract in infancy.

PubMed Central

Ring, E; Zobel, G

1988-01-01

One hundred and forty infants with their first urinary tract infections were studied and pronounced differences in age and sex were found. Two thirds of the patients had their first urinary tract infection during the first three months of life, and boys were significantly younger. There was a predominance of boys from 1-3 months old, but of girls thereafter. Obstructive uropathies occurred more often in boys, and during the first two months of life. The incidence of vesicoureteric reflux was similar for both sexes. Malformations recognised after urinary tract infections were compared with urinary tract malformations recognised prenatally. Fetal urinary tracts were evaluated in just over half of all pregnancies during the study period. Obstructive uropathies and multicystic dysplastic kidneys were more often diagnosed prenatally, and most refluxes were diagnosed after the urinary tract infection. In conclusion age and sex differences are common in urinary tract infection, and even though many urinary tract malformations were diagnosed prenatally this did not influence the high incidence of malformations recognised after urinary tract infection in infancy. PMID:3415299

[The case of completed pregnancy of the patient with Dandy-Walker malformation].

PubMed

Beliaeva, E V; Lapshina, L V; Shaposhnikova, E V; Molgachev, A A

2018-01-01

Dandy-Walker malformation is a rare disease of the central nervous system pathology (congenital malformations of the fossa cranii posterior). The key features of this syndrome are an enlargement of the fourth ventricle; complete absence of the cerebellar vermis, the posterior midline area of cerebellar cortex responsible for coordination of the axial musculature; and cyst formation near the internal base of the skull. Pregnant patients with Dandy-Walker malformation are at high risk and are managed by multidisciplinary teams including neurologists and obstetricians. We present a case report of full-term pregnancy and uncomplicated delivery in a women with Dandy-Walker malformation.

Classification and Current Management of Inner Ear Malformations.

PubMed

Sennaroğlu, Levent; Bajin, Münir Demir

2017-09-29

Morphologically congenital sensorineural hearing loss can be investigated under two categories. The majority of congenital hearing loss causes (80%) are membranous malformations. Here, the pathology involves inner ear hair cells. There is no gross bony abnormality and, therefore, in these cases high-resolution computerized tomography and magnetic resonance imaging of the temporal bone reveal normal findings. The remaining 20% have various malformations involving the bony labyrinth and, therefore, can be radiologically demonstrated by computerized tomography and magnetic resonance imaging. The latter group involves surgical challenges as well as problems in decision-making. Some cases may be managed by a hearing aid, others need cochlear implantation, and some cases are candidates for an auditory brainstem implantation (ABI). During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During surgery for inner ear malformations, the surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article, inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcomes after various implantation methods are closely related to the status of the cochlear nerve, and a practical classification of the cochlear nerve deficiency is also provided.

First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

PubMed

Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

2015-03-01

Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

Abernethy malformation with portal vein aneurysm in a child

PubMed Central

Chandrashekhara, Sheragaru H.; Bhalla, Ashu Seith; Gupta, Arun Kumar; Vikash, C. S.; Kabra, Susheel Kumar

2011-01-01

Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite. PMID:21430844

Angiotensin converting enzyme inhibitors and aortic arch obstructive malformations.

PubMed

Maliheh, Kadivar; Abdorrazagh, Kiani; Armen, Kocharian; Reza, Shabanian

2006-10-01

We describe two newborn infants with aortic arch obstructive malformations who became anuric after initiation of captopril. Since angiotensin converting enzyme inhibitors can alter renal blood flow by reduction in angiotensin II and blocking autoregulation phenomenon, it is important to use them with great caution in neonates with aortic arch obstructive malformations, while monitoring their renal function closely.

Association of Chiari malformation and vitamin B12 deficit in a family.

PubMed

Welsch, Melanie; Antes, Sebastian; Kiefer, Michael; Meyer, Sascha; Eymann, Regina

2013-07-01

A clear etiology of Chiari malformation is still lacking. Some associations between this disorder and genetical variations have been reported. Documented cases of familial Chiari malformation in three consecutive generations are rare. Furthermore, an association of Chiari disorder and vitamin B12 deficit has rarely been described in literature. In this study, three generations of a family suffering from Chiari 1 or Chiari 0 malformation have been examined with MRI, clinically and laboratory (hemograms). Chiari malformation could be confirmed in all presented patients: While the F2 generation (children: 1 × ♀, 1 × ♂) and the female F1 generation (mother and sister of mother) suffered from Chiari type 1, the male F0 generation showed Chiari 0 malformation. F0 and F1 generation further presented with syringomyelia (F0: C4-D1; F1: C4-D2). All patients except the grandfather (F0) underwent surgical posterior fossa decompression to relive successfully cerebellar and hydrocephalus associated progressing clinical symptoms. The hemograms of generation 1 and 2 revealed familial vitamin B12 deficit. A hereditary component is discussed in Chiari malformation, yet proved etiology is still lacking. As folic acid plays an important role in the development of the neural tube, vitamin B12 deficit might have some impact on the development of Chiari malformations.

Syringohydromyelia in Patients with Chiari I Malformation: A Retrospective Analysis.

PubMed

Gad, K A; Yousem, D M

2017-09-01

The association of syringohydromyelia with Chiari I malformation has a wide range, between 23% and 80% of cases in the current literature. In our experience, this range might be overestimated compared with our observations in clinical practice. Because there is an impact of Chiari I malformation-associated syringohydromyelia on morbidity and surgical intervention, its diagnosis is critical in this patient population. Identifying related variables on the basis of imaging would also help identify those patients at risk of syrinx formation during their course of disease. We performed a retrospective analysis of the MR imaging studies of 108 consecutive cases of Chiari I malformation. A multitude of factors associated with syrinx formation were investigated, including demographic, morphometric, osseous, and dynamic CSF flow evaluation. Thirty-nine of 108 (36.1%) patients with Chiari I malformation had syringohydromyelia. On the basis of receiver operating characteristic curve analysis, a skull base angle (nasion-sella-basion) of 135° was found to be a statistically significant classifier of patients with Chiari I malformation with or without syringohydromyelia. Craniocervical junction osseous anomalies (OR = 4.3, P = .001) and a skull base angle of >135° (OR = 4.8, P = .0006) were most predictive of syrinx formation. Pediatric patients (younger than 18 years of age) who developed syringohydromyelia were more likely to have associated skull base osseous anomalies than older individuals ( P = .01). Our findings support evidence of the role of foramen magnum blockage from osseous factors in the development of syringohydromyelia in patients with Chiari I malformation. © 2017 by American Journal of Neuroradiology.

Liquid nitrogen cryotherapy for lip mucous membrane venous malformation in infants.

PubMed

Zhang, Da-Ming; Wang, You-Yuan; Lin, Zhao-Yu; Yang, Zhao-Hui; Chen, Wei-Liang

2015-03-01

Lip mucous membrane venous malformations are common benign lesions in infants. This clinical study evaluates the efficacy and safety of liquid nitrogen cryotherapy used to treat this condition. A total of 84 pediatric patients undergoing liquid nitrogen cryotherapy for venous malformations involving the lips were reviewed, with 45 males and 39 females treated. The overall median age at mucous membrane venous malformation diagnosis was 5.6 months (range 2-18 months). The venous malformations involved the vermilion of the lower lip in 44 cases, the vermilion of the upper lip in 31 cases, and both vermilions in 9 cases. No complications due to anesthesia occurred. After a follow-up period of 2-38 months (mean 25 months), 65 lesions (77.4 %) were completely involuted, 14 lesions (16.7 %) were mostly involuted, and 5 lesions (5.9 %) were partially involuted; no lesions showed a minor amount of involution. Liquid nitrogen cryotherapy is an effective, simple, and safe management tool for mucous membrane venous malformations of the lip in infants.

Finite element simulation and experimental verification of steel cord extraction of steel cord conveyor belt splice

NASA Astrophysics Data System (ADS)

Li, X. G.; Long, X. Y.; Jiang, H. Q.; Long, H. B.

2018-05-01

The splice is the weakest part of the entire steel cord conveyor belt. And it occurs steel cord twitch fault frequently. If this fault cannot be dealt with timely and accurately, broken belt accidents would be occurred that affecting the safety of production seriously. In this paper, we investigate the steel cord pullout of the steel cord conveyor belt splice by using ABAQUS software. We selected the strength of steel cord conveyor belt ST630, the same as experiment sample in type specification. The finite element model consists of rubber, steel cord and failure unit. And the failure unit is used to simulate the bonding relationship between the steel cord and the rubber. Mooney-Rivlin hyper-elastic model for rubber was employed in the numerical simulations. The pullout force of length 50.0 mm single steel cord, on both sides of a single steel cord and on both sides of the double steel cords each impacted at steel cord conveyor belt splice were numerically computer and typical results obtained have been validated by experimental result. It shows that the relative error between simulation results and experimental results is within 10% and can be considered that the simulation model is reliable. A new method is provided for studying the steel cord twitch fault of the steel cord conveyor belt splice.

High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome: Brain Overgrowth Associated with HRAS Mutations as the Likely Cause of Structural Brain and Spinal Cord Abnormalities

PubMed Central

Gripp, Karen W.; Hopkins, Elisabeth; Doyle, Daniel; Dobyns, William B.

2010-01-01

Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic review we found absolute or relative macrocephaly (100%), ventriculomegaly (50%), and other abnormalities on brain and spinal cord imaging studies in 27/28 individuals. Posterior fossa crowding with cerebellar tonsillar herniation (CBTH) was noted in 27/28 (96%), and in 10/17 (59%) with serial studies posterior fossa crowding progressed. Sequelae of posterior fossa crowding and CBTH included hydrocephalus requiring shunt or ventriculostomy (25%), Chiari 1 malformation (32%) and syrinx formation (25%). Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly. Comparison of images obtained in young infants to subsequent studies demonstrated postnatal development of posterior fossa crowding. This process of evolving megalencephaly and cerebellar enlargement is in keeping with mouse model data, delineating abnormal genesis of neurons and glia, resulting in an increased number of astrocytes and enlarged brain volume. In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation. PMID:20425820

Brainstem cavernous malformations: anatomical, clinical, and surgical considerations.

PubMed

Giliberto, Giuliano; Lanzino, Desiree J; Diehn, Felix E; Factor, David; Flemming, Kelly D; Lanzino, Giuseppe

2010-09-01

Symptomatic brainstem cavernous malformations carry a high risk of permanent neurological deficit related to recurrent hemorrhage, which justifies aggressive management. Detailed knowledge of the microscopic and surface anatomy is important for understanding the clinical presentation, predicting possible surgical complications, and formulating an adequate surgical plan. In this article the authors review and illustrate the surgical and microscopic anatomy of the brainstem, provide anatomoclinical correlations, and illustrate a few clinical cases of cavernous malformations in the most common brainstem areas.

Isolated unilateral trismus as a presentation of Chiari malformation: case report.

PubMed

Feinberg, Michelle; Babington, Parker; Sood, Shawn; Keating, Robert

2016-05-01

The authors present a case of Chiari malformation manifesting as isolated trismus, describe the typical symptoms associated with Chiari malformation, and discuss the potential anatomical causes for this unique presentation. A 3-year-old boy presented with inability to open his jaw for 6 weeks with associated significant weight loss. The results of medical and radiological evaluation were negative except for Type I Chiari malformation with cerebellar tonsils 12 mm below the level of the foramen magnum. The patient underwent Chiari decompression surgery. Postoperatively, his ability to open his mouth was significantly improved, allowing resumption of a regular diet. Postoperative MRI revealed almost complete resolution of the syringobulbia. To the best of the authors' knowledge, this is the first reported case of isolated trismus from Chiari malformation with syringobulbia.

Chronic hypertension in pregnancy and the risk of congenital malformations: a cohort study.

PubMed

Bateman, Brian T; Huybrechts, Krista F; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Oberg, Anna S; Franklin, Jessica M; Mogun, Helen; Hernandez-Diaz, Sonia

2015-03-01

Chronic hypertension is a common medical condition in pregnancy. The purpose of the study was to examine the association between maternal chronic hypertension and the risk of congenital malformations in the offspring. We defined a cohort of 878,126 completed pregnancies linked to infant medical records using the Medicaid Analytic Extract. The risk of congenital malformations was compared between normotensive controls and those with treated and untreated chronic hypertension. Confounding was addressed using propensity score matching. After matching, compared with normotensive controls, pregnancies complicated by treated chronic hypertension were at increased risk of congenital malformations (odds ratio [OR], 1.3; 95% confidence interval [CI], 1.2-1.5), as were pregnancies with untreated chronic hypertension (OR 1.2; 95% CI, 1.1-1.3). In our analysis of organ-specific malformations, both treated and untreated chronic hypertension was associated with a significant increase in the risk of cardiac malformations (OR, 1.6; 95% CI, 1.4-1.9 and OR, 1.5; 95% CI, 1.3-1.7, respectively). These associations persisted across a range of sensitivity analyses. There is a similar increase in the risk of congenital malformations (particularly cardiac malformations) associated with treated and untreated chronic hypertension that is independent of measured confounders. Studies evaluating the teratogenic potential of antihypertensive medications must control for confounding by indication. Fetuses and neonates of mothers with chronic hypertension should be carefully evaluated for potential malformations, particularly cardiac defects. Copyright © 2015 Elsevier Inc. All rights reserved.

Modeling spinal cord biomechanics

NASA Astrophysics Data System (ADS)

Luna, Carlos; Shah, Sameer; Cohen, Avis; Aranda-Espinoza, Helim

2012-02-01

Regeneration after spinal cord injury is a serious health issue and there is no treatment for ailing patients. To understand regeneration of the spinal cord we used a system where regeneration occurs naturally, such as the lamprey. In this work, we analyzed the stress response of the spinal cord to tensile loading and obtained the mechanical properties of the cord both in vitro and in vivo. Physiological measurements showed that the spinal cord is pre-stressed to a strain of 10%, and during sinusoidal swimming, there is a local strain of 5% concentrated evenly at the mid-body and caudal sections. We found that the mechanical properties are homogeneous along the body and independent of the meninges. The mechanical behavior of the spinal cord can be characterized by a non-linear viscoelastic model, described by a modulus of 20 KPa for strains up to 15% and a modulus of 0.5 MPa for strains above 15%, in agreement with experimental data. However, this model does not offer a full understanding of the behavior of the spinal cord fibers. Using polymer physics we developed a model that relates the stress response as a function of the number of fibers.

Minimally Invasive Removal of an Intradural Cervical Tumor : Assessment of a Combined Split-Spinous Laminectomy and Quadrant Tube Retractor System Technique

PubMed Central

Kwak, Young-Seok; Cho, Dae-Chul; Kim, Young-Baeg

2012-01-01

Conventional laminectomy is the most popular technique for the complete removal of intradural spinal tumors. In particular, the central portion intramedullary tumor and large intradural extramedullary tumor often require a total laminectomy for the midline myelotomy, sufficient decompression, and adequate visualization. However, this technique has the disadvantages of a wide incision, extensive periosteal muscle dissection, and bony structural injury. Recently, split-spinous laminectomy and tubular retractor systems were found to decrease postoperative muscle injuries, skin incision size and discomfort. The combined technique of split-spinous laminectomy, using a quadrant tube retractor system allows for an excellent exposure of the tumor with minimal trauma of the surrounding tissue. We propose that this technique offers possible advantages over the traditional open tumor removal of the intradural spinal cord tumors, which covers one or two cervical levels and requires a total laminectomy. PMID:23133739

The archipelago of Fernando de Noronha: an intriguing malformed toad hotspot in South America.

PubMed

Toledo, Luís Felipe; Ribeiro, Ricardo S

2009-09-01

Malformed anurans raise concern among scientists, because deformities may relate to the recent global crisis among amphibian populations, although declining populations also may be associated with other causes (e.g., diseases, over-exploitation, and land use/land cover change). We examined a sample of toads (Rhinella jimi, Bufonidae) from an introduced population in the Archipelago of Fernando de Noronha, Brazil where malformations of anurans were thought to be high. Our sample of 159 specimens from the site revealed that 44.6% of all specimens had one or more malformations. Incidence of malformed toads on the mainland sites was substantially lower: 10.5% at Itamaracá, and 3.7% at Propriá. We describe the malformations observed, including six undescribed types of malformation of anurans, and we pose possible hypotheses to explain this high incidence of malformed toads. In addition to existing hypotheses, we suggest for the first time the hypothesis that lack of predation pressures contributes to numbers of malformed toads. We indicate the need of specific studies to understand the causes of malformations in the R. jimi population of Fernando de Noronha, which is thought to be extreme foci of malformed amphibians in the world. Our results may improve local conservation action plans as this is an alien population that may be affecting endemic fauna, and may affect populations in other parts of the world, because toad species of the genus Rhinella are recognized as exceptional colonizers. More importantly, unknown variables in these toads' environment are evidently affecting toads during development, which should be a concern for all species that inhabit the area, perhaps even humans.

Giant occipital meningocele in an 8-year-old child with Dandy-Walker malformation.

PubMed

Talamonti, Giuseppe; Picano, Marco; Debernardi, Alberto; Bolzon, Moreno; Teruzzi, Mario; D'Aliberti, Giuseppe

2011-01-01

The possibility of an association between Dandy-Walker malformation and occipital meningocele is well-known. However, just an overall number of about 40 cases have been previously reported. Giant occipital meningocele has been described only in three newborns. Incidence, pathology, clinical presentation, and proper management of this association are still poorly defined. An 8-year-old boy with Dandy-Walker malformation and giant (25 cm in diameter) occipital meningocele is presented. This boy was born without any apparent occipital mass and harbored no other significant malformations including hydrocephalus. On admission, he was neurologically intact and the giant occipital mass presented partially calcified cyst walls. Treatment consisted of the excision of the occipital malformation, cranioplasty, and cysto-peritoneal shunt. Outcome was excellent. To the best of our knowledge, among the few reported patients with Dandy-Walker malformation associated to occipital meningocele, this is the oldest one and the one with the largest occipital meningocele; he is unique with calcified walls of the occipital meningocele and the only one who survived the repair of the giant malformation. In Dandy-Walker malformation, occipital meningocele may develop and grow regardless of hydrocephalus. Giant size may be reached and the cyst may become calcified. Surgical repair may warrant favorable outcome.

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

PubMed

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A fuzzy system for helping medical diagnosis of malformations of cortical development.

PubMed

Alayón, Silvia; Robertson, Richard; Warfield, Simon K; Ruiz-Alzola, Juan

2007-06-01

Malformations of the cerebral cortex are recognized as a common cause of developmental delay, neurological deficits, mental retardation and epilepsy. Currently, the diagnosis of cerebral cortical malformations is based on a subjective interpretation of neuroimaging characteristics of the cerebral gray matter and underlying white matter. There is no automated system for aiding the observer in making the diagnosis of a cortical malformation. In this paper a fuzzy rule-based system is proposed as a solution for this problem. The system collects the available expert knowledge about cortical malformations and assists the medical observer in arriving at a correct diagnosis. Moreover, the system allows the study of the influence of the various factors that take part in the decision. The evaluation of the system has been carried out by comparing the automated diagnostic algorithm with known case examples of various malformations due to abnormal cortical organization. An exhaustive evaluation of the system by comparison with published cases and a ROC analysis is presented in the paper.

A Fuzzy System for Helping Medical Diagnosis of Malformations of Cortical Development

PubMed Central

Alayón, Silvia; Robertson, Richard; Warfield, Simon K.; Ruiz-Alzola, Juan

2007-01-01

Malformations of the cerebral cortex are recognized as a common cause of developmental delay, neurological deficits, mental retardation and epilepsy. Currently, the diagnosis of cerebral cortical malformations is based on a subjective interpretation of neuroimaging characteristics of the cerebral gray matter and underlying white matter. There is no automated system for aiding the observer in making the diagnosis of a cortical malformation. In this paper a fuzzy rule-based system is proposed as a solution for this problem. The system collects the available expert knowledge about cortical malformations and assists the medical observer in arriving at a correct diagnosis. Moreover, the system allows the study of the influence of the various factors that take part in the decision. The evaluation of the system has been carried out by comparing the automated diagnostic algorithm with known case examples of various malformations due to abnormal cortical organization. An exhaustive evaluation of the system by comparison with published cases and a ROC analysis is presented in the paper. PMID:17197247

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

PubMed Central

Runck, Laura A.; Method, Anna; Bischoff, Andrea; Levitt, Marc; Peña, Alberto; Collins, Margaret H.; Gupta, Anita; Shanmukhappa, Shiva; Wells, James M.; Guasch, Géraldine

2014-01-01

Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh) signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations in humans. Moreover

A late presentation of Dandy-Walker malformation and aortic coarctation.

PubMed

Venturini, Elio; Magni, Lucia; Pucci, Giovanna; Mazzinghi, Fabio

2017-05-01

The Dandy-Walker malformation is a rare anomaly of the posterior cranial fossa. Concomitant brain or systemic malformations are frequent and can influence the outcome. Associated cardiac congenital defects usually induce a poor prognosis. We report a case of a 58-yearold man with hydrocephalus, in whom Dandy-Walker malformation was diagnosed, for the first time, after the demonstration of aortic coarctation. This association is very rare and only a few cases have been described; moreover, to our knowledge, this is the first description of this incidence in a middle-aged patient. The characteristic of diseases and physiopathologic features are discussed, focusing attention on the rare and late clinical manifestations.

Genital malformations in newborns of female nickel-refinery workers.

PubMed

Vaktskjold, Arild; Talykova, Ljudmila Vasiljevna; Chashchin, Valerij Petrovitsj; Nieboer, Evert; Thomassen, Yngvar; Odland, Jon Oyvind

2006-02-01

This study investigated whether pregnant women employed in nickel-exposed work areas are at elevated risk of delivering a newborn with a genital malformation. In this register-based cohort study, data about pregnancy outcome and occupation were obtained using the Kola Birth Registry. Each record in the Registry was assigned a categorical nickel exposure rating according to the occupation the delivering woman had at the time of becoming pregnant, using, as guidelines, the water-soluble nickel subfraction of the inhalable aerosol fraction obtained by personal monitoring for nickel-refinery workers or the measured urinary nickel concentrations. The reference population comprised delivering women from Moncegorsk with a background exposure level. The association of the outcome with the assigned exposure ratings was analyzed in a logistic regression model, adjusted for parity, maternal malformation, exposure to solvents, and infection in early pregnancy. The odds ratio for nickel-exposed women delivering a newborn with a genital malformation was 0.81 [95% confidence interval (95% CI) 0.52-1.26], and that for an undescended testicle was 0.76 (95% CI 0.40-1.47). In this study no negative effect of maternal exposure to water-soluble nickel was found on the risk of delivering a newborn with malformations of the genital organs. The results should be interpreted with caution since there were few cases in the higher exposure groups. The findings do not exclude the possibility of an effect on the risk of other congenital malformations and adverse outcomes (including reduced fertility).

Simultaneous and sequential hemorrhage of multiple cerebral cavernous malformations: a case report.

PubMed

Louis, Nundia; Marsh, Robert

2016-02-09

The etiology of cerebral cavernous malformation hemorrhage is not well understood. Causative physiologic parameters preceding hemorrhagic cavernous malformation events are often not reported. We present a case of an individual with sequential simultaneous hemorrhages in multiple cerebral cavernous malformations with a new onset diagnosis of hypertension. A 42-year-old white man was admitted to our facility with worsening headache, left facial and tongue numbness, dizziness, diplopia, and elevated blood pressure. His past medical history was significant for new onset diagnosis of hypertension and chronic seasonal allergies. Serial imaging over the ensuing 8 days revealed sequential hemorrhagic lesions. He underwent suboccipital craniotomy for resection of the lesions located in the fourth ventricle and right cerebellum. One month after surgery, he had near complete resolution of his symptoms with mild residual vertigo but symptomatic chronic hypertension. Many studies have focused on genetic and inflammatory mechanisms contributing to cerebral cavernous malformation rupture, but few have reported on the potential of hemodynamic changes contributing to cerebral cavernous malformation rupture. Systemic blood pressure changes clearly have an effect on angioma pressures. When considering the histopathological features of cerebral cavernous malformation architecture, changes in arterial pressure could cause meaningful alterations in hemorrhage propensity and patterns.

Delayed Retroclival and Cervical Spinal Subdural Hematoma Complicated by Preexisting Chiari Malformation in Adult Trauma Patient.

PubMed

Nguyen, Ha Son; Choi, Hoon; Kurpad, Shekar; Soliman, Hesham

2017-09-01

Traumatic spinal subdural hematoma involving the retroclival region and upper cervical spine is a rare pathology. To our knowledge, there have only been 2 prior cases in an adult trauma patient. We describe a patient with preexisting Chiari 1 malformation, who recently sustained a unilateral type 1 occipital condyle fracture with associated disruption of the tectorial membrane and transverse ligament, which returned with a retroclival subdural hematoma extending down to C7, causing spinal cord compression and symptomatic obstructive hydrocephalus. A 30-year-old female sustained a motor vehicle collision. Computed tomography C spine revealed a type I occipital condyle fracture. Magnetic resonance imaging C spine demonstrated disruption of the tectorial membrane and avulsion of the transverse ligament at its attachment to the left C1 tubercle; moreover, there was a Chiari 1 malformation. The patient was neurologically intact. A halo was recommended, but the patient opted for an aspen collar with close management. She was discharged but returned 3 days later with apneic episodes, along with bradycardia and hypertension. She was promptly intubated. Computed tomography head showed interval ventricular enlargement. Magnetic resonance imaging C spine revealed a new ventral hematoma spanning the retroclival region to C7, most pronounced at C2-C3. On examination, she opened her eyes to pain, her pupils were equal and reactive, and she withdrew in all extremities. An external ventricular drain was emergently placed. She underwent a suboccipital craniectomy, C1-3 laminectomies, and occiput-C4 instrumented fusion. The dura was significantly tense, and no epidural hematoma was observed during lateral exploration. Postoperatively, she woke up well, exhibiting a nonfocal neurologic examination. A diagnostic angiogram was negative. She was extubated uneventfully, and the external ventricular drain was weaned off in 4 days. Traumatic spinal subdural hematoma involving both the

Brainstem cavernous malformations: Natural history versus surgical management.

PubMed

Walcott, Brian P; Choudhri, Omar; Lawton, Michael T

2016-10-01

While brainstem cavernous malformations were once considered inoperable, improvements in patient selection, surgical exposures, intraoperative MRI-guidance, MR tractography, and neurophysiologic monitoring have resulted in good outcomes in the majority of operated patients. In a consecutive series of 104 patients with brainstem cavernous malformations, only 14% of patients experienced cranial nerve or motor dysfunction that was worse at late follow-up, relative to their preoperative condition. Outcomes were predicted by several factors, including larger lesion size, lesions that crossed the midline, the presence of a developmental venous anomaly, older age, and greater time interval from lesion hemorrhage to surgery. The 14% of patients who experienced a persistent neurological deficit as a result of surgery, while substantial from any perspective, compares favorably with the risks of observation based on a recent meta-analysis. Curative resection is a safe and effective treatment for brainstem cavernous malformations that will prevent re-hemorrhage in symptomatic patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

Hepatoblastoma and Abernethy Malformation Type I: Case Report.

PubMed

Correa, Catalina; Luengas, Juan P; Howard, Scott C; Veintemilla, Galo

2017-03-01

A 2-year-old boy presented with pneumonia and an abdominal mass was noted incidentally. A right lobe hepatic mass classified as PRETEXT III and congenital absence of the portal vein with drainage of the superior mesenteric vein to the inferior vena cava (Abernethy malformation type I) were confirmed by computed tomography and angiography. After a clinical diagnosis of hepatoblastoma had been made, he was treated with 4 cycles of doxorubicin and cisplatin and hepatic arterial chemoembolization with doxorubicin, after which the tumor was classified as POSTEXT III. He underwent a right extended hepatic lobectomy with resection of the caudate lobe but died on postoperative day 4 due to hepatic failure. The Abernethy malformation type I is associated with the development of hepatic tumors, and the abnormal blood flow might predispose to hepatic failure after liver resection. Extensive study of the hepatic vasculature is warranted in patients with suspected malformations. Liver transplant could be considered in patients with congenital portosystemic shunt and malignant liver tumors.

Definitions and Anatomic Considerations in Chiari I Malformation and Associated Syringomyelia.

PubMed

Tubbs, R Shane

2015-10-01

Current understanding of the hindbrain hernias known as Chiari I malformations is based on more than 100 years of pathologic and clinical experience. Over time, the definition of this finding has been analyzed and altered. The term Chiari I malformation is currently used to describe tonsillar ectopia in a wide range of patients with varying embryonic derailments. This article discusses this malformation, its various definitions, and varied anatomic traits. In addition, the morphology of the commonly associated syringomyelia is reviewed. Copyright © 2015 Elsevier Inc. All rights reserved.

Assessment of environmental stressors potentially responsible for malformations in North American anuran amphibians.

PubMed

Ankley, Gerald T; Degitz, S J; Diamond, S A; Tietge, J E

2004-05-01

Several species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of malformations, predominantly of the hindlimb. Research concerning the potential causes of these malformations has focused extensively on three stressors: chemical contaminants, ultraviolet (UV) radiation, and parasitic trematodes. In this overview of recent work with each of these stressors, we assess their plausibility as contributors to the malformations observed in field-collected amphibians. There is as yet little evidence that chemical contaminants are responsible for the limb malformations. This includes chemicals, such as the pesticide methoprene, that could affect retinoid-signaling pathways that are critical to limb development. Exposure to UV radiation also seems to be an unlikely explanation for hindlimb malformations in amphibians. Although solar UV can cause hindlimb deficiencies in amphibians, a probabilistic assessment based on empirical dose-response and exposure data indicates that UV exposures sufficient to induce limb defects would be uncommon in most wetlands. Results of controlled studies conducted with some affected species and field-monitoring work suggest infection by digenetic trematodes as a promising explanation for the malformations observed in anurans collected from many field sites. Controlled experimentation with additional species and monitoring across a broader range of affected sites are required to assess fully the role of trematodes in relation to other stressors in causing limb malformations. If trematode infestations are indeed related to the recent increases in malformed amphibians, then the question remains as to what alterations in the environment might be causing changes in the distribution and abundance of the parasites.

Thermocouple split follower

DOEpatents

Howell, deceased, Louis J.

1980-01-01

Thermoelectric generator assembly accommodating differential thermal expansion between thermoelectric elements by means of a cylindrical split follower forming a slot and having internal spring loaded wedges that permit the split follower to open and close across the slot.

In vitro fertilization (IVF) in Sweden: risk for congenital malformations after different IVF methods.

PubMed

Källén, Bengt; Finnström, Orvar; Nygren, Karl Gösta; Olausson, Petra Otterblad

2005-03-01

The possible excess of congenital malformations in infants born after in vitro fertilization (IVF) has been much discussed in the literature, with controversial conclusions. This population based study is aimed at analyzing the presence of congenital malformations in a large group of infants born after IVF and to compare malformation risk both with that of all infants born and according to IVF method used. Infants born after IVF during the period 1982-2001 were ascertained from all IVF clinics in Sweden. The presence of congenital malformations was identified from three national health registers: the Swedish Medical Birth Register, the Swedish Registry of Congenital Malformations, and the Swedish Hospital Discharge Register. The IVF children were compared with all children born in Sweden during the same period and recorded in the Swedish Medical Birth Register. Among 16,280 IVF children (30% conceived after intracytoplasmatic sperm injection [ICSI]) a 42% excess of any congenital malformation was found, explainable by parental characteristics and in some cases by the high rate of multiple births. Among these children, 8% had a congenital malformation, and 5% had a relatively severe condition. For neural tube defects, choanal atresia, and alimentary tract atresia, an additional risk increase was seen. There was no difference in malformation rate according to IVF method except for an excess of hypospadias after ICSI. An increased risk for congenital malformations occurs after IVF, similar for the different IVF techniques used, and mainly a consequence of parental characteristics. A few specific conditions show an extra increase in risk. Copyright 2005 Wiley-Liss, Inc.

Unusual leg malformations in screech owls from a South Carolina Superfund site

USGS Publications Warehouse

Albers, P.H.; Hoffman, D.J.; Brisbin, I.L.

2001-01-01

In 1995, the discovery of leg malformations in several screech owl (Otis asio) nestlings and in their female parent at a Department of Energy (DOE) Superfund site in South Carolina prompted an investigation into the nature of the observed abnormalities. Surviving nestlings and the female parent were transferred to a captive screech owl breeding colony at the USGS Patuxent Wildlife Research Center, Laurel, MD. The malformed female parent and her offspring were each mated with normal owls from the colony for 3 yr. Matings of the malformed female produced five malformed and six normal owls; all owls produced by matings of normal offspring were normal. Malformed offspring were euthanized when it became apparent that their physical distress precluded survival under normal conditions of colony care. Euthanized owls were necropsied and examined for skeletal development. Detailed descriptions of eight malformed owls are presented. Results of the matings indicated that the leg malformations were caused by a genetic trait in the female parent that was heterozygous dominant. The characteristic was lethal except in occasional mild manifestations and resembled an extreme form of a dominant abnormality previously described for domestic fowl called duplicate polydactyly. Other reports of skeletal abnormalities in wild birds and potential environmental causes of genetic mutations at the DOE Super-fund site are presented. Other studies performed at the DOE Superfund site do not implicate elevated (above background) ionizing radiation from '37Cs, the dominant radio-nuclide where the owls were captured, as the cause of the mutation. The cause of this genetic abnormality remains unknown.

Clinical Characteristics of Patients Who Underwent Surgery for Genital Tract Malformations at Peking Union Medical College Hospital across 31 Years.

PubMed

Wang, Guang-Han; Zhu, Lan; Liu, Ai-Ming; Xu, Tao; Lang, Jing-He

2016-10-20

Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process. The average patient age was 27.6 ± 9.9 years. The average ages of patients who underwent surgery for uterine malformation and vaginal malformation were 31.9 ± 8.8 years and 24.7 ± 9.0 years, respectively; these ages differed significantly (P < 0.01). Among patients with genital tract malformation, the percentages of vaginal malformation, uterine malformation, vulva malformation, cervical malformation, and other malformations were 43.9%, 43.5%, 7.4%, 2.3%, and 2.8%, respectively. Among patients with uterine malformation, 34.5% underwent surgery for the genital tract malformation, whereas in patients with vaginal malformation, the proportion is 70.6%; the difference between the two groups was statistically significant (P < 0.01). The percentage of complications of the urinary system in patients with vaginal malformations was 10.2%, which was statistically significantly higher than that (5.3%) in patients with uterine malformations (P < 0.01). Compared to patients with uterine malformations, patients with vaginal malformations displayed more severe clinical symptoms, a younger surgical age, and a greater need for attention, early diagnosis, and treatment. Patients with genital tract malformations, particularly vaginal malformations, tend to have more complications of the urinary system and other malformations than patients with uterine malformations.

Spinal cord repair in MS

PubMed Central

Ciccarelli, O.; Altmann, D. R.; McLean, M. A.; Wheeler-Kingshott, C. A.; Wimpey, K.; Miller, D. H.; Thompson, A. J.

2010-01-01

Objective: To investigate the mechanisms of spinal cord repair and their relative contribution to clinical recovery in patients with multiple sclerosis (MS) after a cervical cord relapse, using spinal cord 1H-magnetic resonance spectroscopy (MRS) and volumetric imaging. Methods: Fourteen patients with MS and 13 controls underwent spinal cord imaging at baseline and at 1, 3, and 6 months. N-acetyl-aspartate (NAA) concentration, which reflects axonal count and metabolism in mitochondria, and the cord cross-sectional area, which indicates axonal count, were measured in the affected cervical region. Mixed effect linear regression models investigated the temporal evolution of these measures and their association with clinical changes. Ordinal logistic regressions identified predictors of recovery. Results: Patients who recovered showed a sustained increase in NAA after 1 month. In the whole patient group, a greater increase of NAA after 1 month was associated with greater recovery. Patients showed a significant decline in cord area during follow-up, which did not correlate with clinical changes. A worse recovery was predicted by a longer disease duration at study entry. Conclusions: The partial recovery of N-acetyl-aspartate levels after the acute event, which is concurrent with a decline in cord cross-sectional area, may be driven by increased axonal mitochondrial metabolism. This possible repair mechanism is associated with clinical recovery, and is less efficient in patients with longer disease duration. These insights into the mechanisms of spinal cord repair highlight the need to extend spinal cord magnetic resonance spectroscopy to other spinal cord disorders, and explore therapies that enhance recovery by modulating mitochondrial activity. GLOSSARY CI = confidence interval; EDSS = Expanded Disability Status Scale; FOV = field of view; MR = magnetic resonance; MRS = magnetic resonance spectroscopy; MS = multiple sclerosis; NAA = N-acetyl-aspartate; SC = spinal

Cerebral dominance for speech and handwriting of patients with cortical vascular malformations.

PubMed

Sass, K J; Buchanan, C P; Westerveld, M; Spencer, D D

1994-10-01

Lateralization of speech dominance was established using amobarbital for 22 patients with vascular malformations lateralized to the left cerebral hemisphere. Patients' histories were negative for clinically evident neurological events (e.g., seizures or hemorrhage) prior to adulthood. The vascular lesions were categorized as high flow arteriovenous malformations (AVMs) (n = 4), low flow AVMs (n = 6), cavernous hemangiomas (n = 10), or venous angiomas (n = 2) by reviewing angiographic findings and surgical pathology for those patients whose lesions were excised. Three of the malformations encroached upon primary language areas. The frequency of right hemisphere speech dominance was not significantly elevated in comparison with the normal population, even though the incidence of nonright-handedness was. Ninety-five percent of the patients were left hemisphere dominant for speech: only one patient, with a parietal lobe cavernous hemangioma, was found to be right hemisphere dominant for speech. This malformation did not involve the primary language areas. These findings suggest that vascular malformations do not affect speech dominance as readily as other neurological diseases, but frequently affect manual dominance.

Placenta previa and risk of major congenital malformations among singleton births in Finland.

PubMed

Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

2015-06-01

Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

[Venous and arteriovenous malformations in the head and neck region. Therapeutic options and challenges].

PubMed

Eivazi, B; Werner, J A

2014-01-01

Venous malformations are the prototype low-flow malformations in the head and neck region. Arteriovenous malformations (AVM) represent the main high-flow malformations. In recent years it has been possible to significantly optimize the therapeutic options for venous malformations. In addition to conventional surgery, laser treatment and sclerotherapy have become established techniques and the importance of embolization with new alcohol-based materials is increasing. AVM are progressive and destructive diseases. Therapy of choice is usually a combined treatment comprising embolization and surgical removal of the arteriovenous nidus. This curative approach is usually possible if diagnosis is made at an early stage. Incomplete embolization or sole ligation of the arterial supply causes progression. There is a clear need for improved therapeutic methods and pharmacotherapeutic approaches.

Hydromyelia

MedlinePlus

... children with hydrocephalus or birth defects such as Chiari Malformation II and Dandy-Walker syndrome. Syringomyelia, however, features ... primarily in adults, the majority of whom have Chiari Malformation type 1 or have experienced spinal cord trauma. ...

Syringomyelia

MedlinePlus

... which brain tissue protrudes into your spinal canal (Chiari malformation). Other causes of syringomyelia include spinal cord tumors, ... protrusion of brain tissue into your spinal canal (Chiari malformation), symptoms generally may begin between ages 25 and ...

Frontal Lobe Cavernous Malformations in Pediatric Patients: Clinical Features and Surgical Outcomes.

PubMed

Wang, Chengjun; Zhao, Meng; Wang, Jia; Wang, Shuo; Jiang, Zhongli; Zhao, Jizong

2018-01-01

The purpose of this study is to investigate the clinical manifestations, surgical treatment, and neurologic outcomes of frontal lobe cavernous malformations in children. A retrospective analysis of 23 pediatric frontal lobe cavernous malformation patients who underwent surgical treatment in Beijing Tiantan Hospital was performed. The case series included 16 boys and 7 girls. Gross total removal without surgical mortality was achieved in all patients. The mean follow-up period after surgery was 33.1 months. Two patients who left hospital with motor deficits gradually recovered after rehabilitative treatment, and other patients were considered to be in excellent clinical condition. For symptomatic frontal lobe cavernous malformations, neurosurgical management should be the treatment of choice. Conservative treatment may be warranted in asymptomatic frontal lobe cavernous malformations, especially the deep-seated or eloquently located cases.

Retraining the injured spinal cord

NASA Technical Reports Server (NTRS)

Edgerton, V. R.; Leon, R. D.; Harkema, S. J.; Hodgson, J. A.; London, N.; Reinkensmeyer, D. J.; Roy, R. R.; Talmadge, R. J.; Tillakaratne, N. J.; Timoszyk, W.;

Histologic change of arteriovenous malformations of the face and scalp after free flap transfer.

PubMed

Tark, K C; Chung, S

2000-07-01

In three patients with long-standing vascular malformations of the face and scalp, radial forearm free flaps were transferred after a near-total excision of the lesion. All patients had typical high-flow malformations with thrill and bruit. The onset and progression of the malformations were analyzed through clinical and histologic studies. After free flap transfer, the vascular malformations were followed up grossly and histologically for between 4 and 9 years. There was no recurrence of arteriovenous malformation after free flap transfer. The portion of the residual lesion adjacent to the transferred free flap disappeared, and the remaining discoloration also vanished grossly. Histologic comparison of immediate postoperative and 4-month postoperative specimens from the margin and residual lesion using Victoria blue staining showed that the typical preoperative findings for arteriovenous malformation-an intermingling of thick-walled vessels with abundant elastic fibers and thin-walled vessels without elastic fibers-had undergone change, resulting in the disappearance of the thick-walled vessels and leaving only homogeneous, thin-walled vasculature. The highly vascularized free flap, which does not contain abnormal fistulas, impacted the histologic change of the arteriovenous malformation by blocking the vicious cycle of ischemia and anatomic replacement of disfigured skin and subcutaneous tissues.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

PubMed

Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

2017-08-10

Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

Spinal cord injury with central cord syndrome from surfing.

PubMed

Steinfeld, Yaniv; Keren, Yaniv; Haddad, Elias

2018-01-01

Central cord syndrome (CCS) is an injury to the center of the spinal cord. It is well known as a hyperextension injury, but it has never been described as a surfing injury. Our report describes this injury in detail. A 35-year-old male novice surfer presented to the emergency department with acute tetraplegia following falling off his surfboard and hitting sea floor at a shallow beach break. He was rescued by a fellow surfer while floating in the sea and unable to raise his head above sea level. Upon arrival at the hospital, tetraplegia and sensory deficits were noted. Radiological investigations showed advanced spinal stenosis at C4-6 levels. T2 magnetic resonance imaging (MRI) demonstrated myelopathy at C5-C6 level. He was diagnosed as having central cord syndrome, treated conservatively, and regained near full neurologic recovery after a month of rehabilitation. Unique sport activities lead to unique injuries. It is important to accurately describe these injuries in order to create protective measures against them. Neurologic injuries in surfers are uncommon. With low-energy trauma, surfer's myelopathy is still the most common diagnosis, but central cord syndrome should be in the differential diagnosis.

Pathophysiological analyses of cortical malformation using gyrencephalic mammals

PubMed Central

Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

2015-01-01

One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

Optimal method for collection of umbilical cord blood: an Egyptian trial for a public cord blood bank.

PubMed

Bassiouny, M R; El-Chennawi, F; Mansour, A K; Yahia, S; Darwish, A

2015-06-01

Umbilical cord blood (UCB) contains stem cells and can be used as an alternative to bone marrow transplantation. Engraftment is dependent on the total nucleated cell (TNC) and CD34+ cell counts of the cord blood units. This study was designed to evaluate the effect of the method of collection of the UCB on the yield of the cord blood units. Informed consent was obtained from 100 eligible mothers for donation of cord blood. Both in utero and ex utero methods were used for collection. The cord blood volume was measured. The TNC and the CD34+ cell counts were enumerated. We have found that in utero collection gave significantly larger volumes of cord blood and higher TNC counts than ex utero collection. There was no significant difference between both methods regarding the CD34+ cell counts. This study revealed a significant correlation between the volume of the collected cord blood and both TNC and CD34+ cell counts. It is better to collect cord blood in utero before placental delivery to optimize the quality of the cord blood unit. © 2015 AABB.

Simultaneous Brain–Cervical Cord fMRI Reveals Intrinsic Spinal Cord Plasticity during Motor Sequence Learning

PubMed Central

Cohen-Adad, Julien; Marchand-Pauvert, Veronique; Benali, Habib; Doyon, Julien

2015-01-01

The spinal cord participates in the execution of skilled movements by translating high-level cerebral motor representations into musculotopic commands. Yet, the extent to which motor skill acquisition relies on intrinsic spinal cord processes remains unknown. To date, attempts to address this question were limited by difficulties in separating spinal local effects from supraspinal influences through traditional electrophysiological and neuroimaging methods. Here, for the first time, we provide evidence for local learning-induced plasticity in intact human spinal cord through simultaneous functional magnetic resonance imaging of the brain and spinal cord during motor sequence learning. Specifically, we show learning-related modulation of activity in the C6–C8 spinal region, which is independent from that of related supraspinal sensorimotor structures. Moreover, a brain–spinal cord functional connectivity analysis demonstrates that the initial linear relationship between the spinal cord and sensorimotor cortex gradually fades away over the course of motor sequence learning, while the connectivity between spinal activity and cerebellum gains strength. These data suggest that the spinal cord not only constitutes an active functional component of the human motor learning network but also contributes distinctively from the brain to the learning process. The present findings open new avenues for rehabilitation of patients with spinal cord injuries, as they demonstrate that this part of the central nervous system is much more plastic than assumed before. Yet, the neurophysiological mechanisms underlying this intrinsic functional plasticity in the spinal cord warrant further investigations. PMID:26125597

Simultaneous Brain-Cervical Cord fMRI Reveals Intrinsic Spinal Cord Plasticity during Motor Sequence Learning.

PubMed

Vahdat, Shahabeddin; Lungu, Ovidiu; Cohen-Adad, Julien; Marchand-Pauvert, Veronique; Benali, Habib; Doyon, Julien

2015-06-01

The spinal cord participates in the execution of skilled movements by translating high-level cerebral motor representations into musculotopic commands. Yet, the extent to which motor skill acquisition relies on intrinsic spinal cord processes remains unknown. To date, attempts to address this question were limited by difficulties in separating spinal local effects from supraspinal influences through traditional electrophysiological and neuroimaging methods. Here, for the first time, we provide evidence for local learning-induced plasticity in intact human spinal cord through simultaneous functional magnetic resonance imaging of the brain and spinal cord during motor sequence learning. Specifically, we show learning-related modulation of activity in the C6-C8 spinal region, which is independent from that of related supraspinal sensorimotor structures. Moreover, a brain-spinal cord functional connectivity analysis demonstrates that the initial linear relationship between the spinal cord and sensorimotor cortex gradually fades away over the course of motor sequence learning, while the connectivity between spinal activity and cerebellum gains strength. These data suggest that the spinal cord not only constitutes an active functional component of the human motor learning network but also contributes distinctively from the brain to the learning process. The present findings open new avenues for rehabilitation of patients with spinal cord injuries, as they demonstrate that this part of the central nervous system is much more plastic than assumed before. Yet, the neurophysiological mechanisms underlying this intrinsic functional plasticity in the spinal cord warrant further investigations.

Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation.

PubMed

Woitek, Ramona; Prayer, Daniela; Weber, Michael; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Schöpf, Veronika; Brugger, Peter C; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor

2016-05-01

This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm(2), 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p = .003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. • FA in the fetal midbrain is elevated in Chiari II malformations. • FA is not elevated in hydrocephalus and mild ventriculomegaly without Chiari II. • Measuring FA may help distinguish different causes for enlarged ventricles prenatally. • Elevated FA may aid in the diagnosis of open neural tube defects. • Elevated FA might contribute to stratification for prenatal surgery in Chiari II.

The Split-Brain Phenomenon Revisited: A Single Conscious Agent with Split Perception.

PubMed

Pinto, Yair; de Haan, Edward H F; Lamme, Victor A F

2017-11-01

The split-brain phenomenon is caused by the surgical severing of the corpus callosum, the main route of communication between the cerebral hemispheres. The classical view of this syndrome asserts that conscious unity is abolished. The left hemisphere consciously experiences and functions independently of the right hemisphere. This view is a cornerstone of current consciousness research. In this review, we first discuss the evidence for the classical view. We then propose an alternative, the 'conscious unity, split perception' model. This model asserts that a split brain produces one conscious agent who experiences two parallel, unintegrated streams of information. In addition to changing our view of the split-brain phenomenon, this new model also poses a serious challenge for current dominant theories of consciousness. Copyright © 2017 Elsevier Ltd. All rights reserved.

Vocal Cord Paralysis

MedlinePlus

... paralysis. Known causes may include: Injury to the vocal cord during surgery. Surgery on or near your neck or upper ... Factors that may increase your risk of developing vocal cord paralysis include: Undergoing throat or chest surgery. People who need surgery on their thyroid, throat ...

The history of female genital tract malformation classifications and proposal of an updated system.

PubMed

Acién, Pedro; Acién, Maribel I

2011-01-01

A correct classification of malformations of the female genital tract is essential to prevent unnecessary and inadequate surgical operations and to compare reproductive results. An ideal classification system should be based on aetiopathogenesis and should suggest the appropriate therapeutic strategy. We conducted a systematic review of relevant articles found in PubMed, Scopus, Scirus and ISI webknowledge, and analysis of historical collections of 'female genital malformations' and 'classifications'. Of 124 full-text articles assessed for eligibility, 64 were included because they contained original general, partial or modified classifications. All the existing classifications were analysed and grouped. The unification of terms and concepts was also analysed. Traditionally, malformations of the female genital tract have been catalogued and classified as Müllerian malformations due to agenesis, lack of fusion, the absence of resorption and lack of posterior development of the Müllerian ducts. The American Fertility Society classification of the late 1980s included seven basic groups of malformations also considering the Müllerian development and the relationship of the malformations to fertility. Other classifications are based on different aspects: functional, defects in vertical fusion, embryological or anatomical (Vagina, Cervix, Uterus, Adnex and Associated Malformation: VCUAM classification). However, an embryological-clinical classification system seems to be the most appropriate. Accepting the need for a new classification system of genitourinary malformations that considers the experience gained from the application of the current classification systems, the aetiopathogenesis and that also suggests the appropriate treatment, we proposed an update of our embryological-clinical classification as a new system with six groups of female genitourinary anomalies.

Triadic split-merge sampler

NASA Astrophysics Data System (ADS)

van Rossum, Anne C.; Lin, Hai Xiang; Dubbeldam, Johan; van der Herik, H. Jaap

2018-04-01

In machine vision typical heuristic methods to extract parameterized objects out of raw data points are the Hough transform and RANSAC. Bayesian models carry the promise to optimally extract such parameterized objects given a correct definition of the model and the type of noise at hand. A category of solvers for Bayesian models are Markov chain Monte Carlo methods. Naive implementations of MCMC methods suffer from slow convergence in machine vision due to the complexity of the parameter space. Towards this blocked Gibbs and split-merge samplers have been developed that assign multiple data points to clusters at once. In this paper we introduce a new split-merge sampler, the triadic split-merge sampler, that perform steps between two and three randomly chosen clusters. This has two advantages. First, it reduces the asymmetry between the split and merge steps. Second, it is able to propose a new cluster that is composed out of data points from two different clusters. Both advantages speed up convergence which we demonstrate on a line extraction problem. We show that the triadic split-merge sampler outperforms the conventional split-merge sampler. Although this new MCMC sampler is demonstrated in this machine vision context, its application extend to the very general domain of statistical inference.

Spine malformation complex in 3 diverse syndromic entities

PubMed Central

Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

2016-01-01

Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

Fifteen years of experience in the treatment of anorectal malformations.

PubMed

Julià, Victoria; Tarrado, Xavier; Prat, Jordi; Saura, Laura; Montaner, Albert; Castañón, Montserrrat; Ribó, Josep Maria

2010-02-01

To analyze our experience in the treatment of anorectal malformations (ARM) with the posterior sagittal anorectoplasty (PSARP), and our modifications through the last few years and the outcomes. We reviewed 107 cases divided into two groups: Former (F: 1994-2003) and Recent (R: 2004-2008). Type of ARM, associated anomalies, management and complications were noted. A telephone questionnaire regarding continence outcome was addressed to the 74 cases older than 3 years. According to the type of ARM, there were 53 perineal fistulas, 2 anal stenoses, 11 no fistulas, 12 rectourethral fistulas (5 rectobulbar and 7 rectoprostatic fistulas), 22 vestibular fistulas, 1 rectovesical fistulas and 6 cloacas. A total of 47 patients presented with 73 associated malformations. As much as 45 colostomies were performed, including 5 perineal fístulas, with 6 of 7 vestibular fístulas in group F and only 8 of 15 in group R. We had 19 complications of PSARP. The most frequent one was rectal mucosa prolapse in 14 (12F and 2R) and 2 wound infections (F). Continence was good in 62, poor in 3 and fair in 5. Seven out of eight children with poor or fair continence had associated malformations. All perineal fístulas can be managed without colostomy. Vestibular fístulas can be safely treated without colostomy in otherwise healthy patients without severe malformations. Overall, continence is good, and fair/poor results are related to associated malformations. Cumulative experience helps avoid colostomies and reduce complication and reoperation rates.

Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.

PubMed

Buell, Thomas J; Heiss, John D; Oldfield, Edward H

2015-10-01

This article summarizes the current understanding of the pathophysiology of the Chiari I malformation that is based on observations of the anatomy visualized by modern imaging with MRI and prospective studies of the physiology of patients before and after surgery. The pathogenesis of a Chiari I malformation of the cerebellar tonsils is grouped into 4 general mechanisms. Copyright © 2015 Elsevier Inc. All rights reserved.

Radiation-free quantification of head malformations in craniosynostosis patients from 3D photography

NASA Astrophysics Data System (ADS)

Tu, Liyun; Porras, Antonio R.; Oh, Albert; Lepore, Natasha; Mastromanolis, Manuel; Tsering, Deki; Paniagua, Beatriz; Enquobahrie, Andinet; Keating, Robert; Rogers, Gary F.; Linguraru, Marius George

2018-02-01

The evaluation of cranial malformations plays an essential role both in the early diagnosis and in the decision to perform surgical treatment for craniosynostosis. In clinical practice, both cranial shape and suture fusion are evaluated using CT images, which involve the use of harmful radiation on children. Three-dimensional (3D) photography offers noninvasive, radiation-free, and anesthetic-free evaluation of craniofacial morphology. The aim of this study is to develop an automated framework to objectively quantify cranial malformations in patients with craniosynostosis from 3D photography. We propose a new method that automatically extracts the cranial shape by identifying a set of landmarks from a 3D photograph. Specifically, it registers the 3D photograph of a patient to a reference template in which the position of the landmarks is known. Then, the method finds the closest cranial shape to that of the patient from a normative statistical shape multi-atlas built from 3D photographs of healthy cases, and uses it to quantify objectively cranial malformations. We calculated the cranial malformations on 17 craniosynostosis patients and we compared them with the malformations of the normative population used to build the multi-atlas. The average malformations of the craniosynostosis cases were 2.68 +/- 0.75 mm, which is significantly higher (p<0.001) than the average malformations of 1.70 +/- 0.41 mm obtained from the normative cases. Our approach can support the quantitative assessment of surgical procedures for cranial vault reconstruction without exposing pediatric patients to harmful radiation.

Antithyroid Drugs and Congenital Malformations: A Nationwide Korean Cohort Study.

PubMed

Seo, Gi Hyeon; Kim, Tae Hyuk; Chung, Jae Hoon

2018-03-20

Untreated or insufficiently treated Graves disease in pregnancy may pose risks to both mother and fetus. Antithyroid drugs (ATDs) are the treatment mainstay, but the potential teratogenic effect of these drugs has prompted clinicians to question the safe management of this vulnerable population. To examine the association between maternal prescriptions for ATDs and congenital malformations in live births. Nationwide cohort study. Korean National Health Insurance database. A cohort of 2 886 970 completed pregnancies linked to live-born infants in 2 210 253 women between 2008 and 2014. Maternal prescriptions for ATDs in the first trimester. The risk for overall and organ-specific congenital malformations in offspring, with logistic regression models used to control for potential confounders. 12 891 pregnancies (0.45%) were exposed to ATDs during the first trimester. The prevalence of malformations in exposed offspring was 7.27%, compared with 5.94% in offspring of women who were not prescribed ATDs during pregnancy (P < 0.001) (adjusted odds ratio, 1.19 [95% CI, 1.12 to 1.28]). Absolute increases in the prevalence of congenital malformations per 1000 live births were 8.81 cases (CI, 3.92 to 13.70 cases) for propylthiouracil alone, 17.05 cases (CI, 1.94 to 32.15 cases) for methimazole (MMI) alone, and 16.53 cases (CI, 4.73 to 28.32 cases) for propylthiouracil and MMI, compared with pregnancies without ATD prescriptions. In the MMI group, a high cumulative dose (>495 mg) during the first trimester was associated with an increased risk for malformations compared with a low dose (1 to 126 mg) (adjusted odds ratio, 1.87 [CI, 1.06 to 3.30]). The study used a prescription claims database to assess ATD exposure. Exposure to ATDs during the first trimester was associated with increased risk for congenital malformations, particularly for pregnancies in which women received prescriptions for MMI or both ATDs. None.

PP-4 ANORECTAL MALFORMATIONS: MOTILITY STUDIES AND RESPONSE TO BIOFEEDBACK THERAPY.

PubMed

Bigliardi, Roman N; Ditaranto, A; Reynoso, R; Vidal, J H; Messere, G; Toca, M; Silvestri, G; Ortiz, G; Noriega, S; Varela, A

2015-10-01

Anorectal malformations (ARM) are infrequent anatomic defects with a prevalence of 1 each 5000 alive newborns. Most of the patients repaired of this illness have some degree of constipation or fecal incontinence. There are few reports about manometric studies and biofeedback treatment in patients with anorectal malformations. To evaluate of our population's anorectal functionality late after surgery by anorectal manometry; To study the response to diet, toilet training, and/or biofeedback. Anorectal manometry was done in 39 patients with ARM and 35 of them received combinated treatment of diet, toilet training and biofeedback. Age: 6 to 17 years old. Mean age: 8.05 years. Descriptive study. From april 2004 to april 2015. 14 patients had high malformations(36%), 18 had low malformations(46%) and 7 had cloaca(18%). children over 6 years of age with anorectal malformation operated using Peña's technique (postsagittal anorectoplasty). patients with neurological disorders that do not non-compliant with study and treatment indications. Average resting pressure was 28 mmHg(High level 25,5 and Low level 29,8 mmHg), range between 7 and 51 mmHg. Squeezing pressure between 29 and 120 mmHg(mean:69mmHg). Combined treatment of diet, toilet training, and biofeedback was succesfull to get total continence in 22 patients (4 cloacas, 10 high malformations and 8 low malformations), partial continence in 6(all low) and without response in 3(1 low, 1 high and 1 cloaca); 2 patients archived continence only with toilet training and 2 were lost in follow up(T.Fisher: 0,1). In high ARM 8 had positive(+) rectoanal inhibitory reflex(RAIR) and 6 negative(¬). In cloacas it was (+) in 3, (¬) in 3 and doubtful in 1. In low ARM 15(+), 2 (¬) and 1 doubtful. Reflex was obtained with 20 to 60cc of air(mean 31,36). The RRAI duration was 10 to 17 seconds(mean: 13 seconds).From 22 total continent, RAIR was (+) in 13, (¬) in 7 and hazardous in 2. All 6 partially continent had (+) RAIR; and from 3

Cranial malformations in related white lions (Panthera leo krugeri).

PubMed

Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E

2010-11-01

White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions.

DETECTION OF FLUX EMERGENCE, SPLITTING, MERGING, AND CANCELLATION OF NETWORK FIELD. I. SPLITTING AND MERGING

DOE Office of Scientific and Technical Information (OSTI.GOV)

Iida, Y.; Yokoyama, T.; Hagenaar, H. J.

2012-06-20

Frequencies of magnetic patch processes on the supergranule boundary, namely, flux emergence, splitting, merging, and cancellation, are investigated through automatic detection. We use a set of line-of-sight magnetograms taken by the Solar Optical Telescope (SOT) on board the Hinode satellite. We found 1636 positive patches and 1637 negative patches in the data set, whose time duration is 3.5 hr and field of view is 112'' Multiplication-Sign 112''. The total numbers of magnetic processes are as follows: 493 positive and 482 negative splittings, 536 positive and 535 negative mergings, 86 cancellations, and 3 emergences. The total numbers of emergence and cancellationmore » are significantly smaller than those of splitting and merging. Further, the frequency dependence of the merging and splitting processes on the flux content are investigated. Merging has a weak dependence on the flux content with a power-law index of only 0.28. The timescale for splitting is found to be independent of the parent flux content before splitting, which corresponds to {approx}33 minutes. It is also found that patches split into any flux contents with the same probability. This splitting has a power-law distribution of the flux content with an index of -2 as a time-independent solution. These results support that the frequency distribution of the flux content in the analyzed flux range is rapidly maintained by merging and splitting, namely, surface processes. We suggest a model for frequency distributions of cancellation and emergence based on this idea.« less

Vocal cord dysfunction in children.

PubMed

Noyes, Blakeslee E; Kemp, James S

2007-06-01

Vocal cord dysfunction is characterised by paradoxical vocal cord adduction that occurs during inspiration, resulting in symptoms of dyspnoea, wheeze, chest or throat tightness and cough. Although the condition is well described in children and adults, confusion with asthma often triggers the use of an aggressive treatment regimen directed against asthma. The laryngoscopic demonstration of vocal cord adduction during inspiration has been considered the gold standard for the diagnosis of vocal cord dysfunction, but historical factors and pulmonary function findings may provide adequate clues to the correct diagnosis. Speech therapy, and in some cases psychological counselling, is often beneficial in this disorder. The natural course and prognosis of vocal cord dysfunction are still not well described in adults or children.

Banking on cord blood stem cells.

PubMed

Sullivan, Michael J

2008-07-01

Umbilical cord blood gifted to non-profit public cord blood banks is now routinely used as an alternative source of haematopoietic stem cells for allogeneic transplantation for children and adults with cancer, bone marrow failure syndromes, haemoglobinopathies and many genetic metabolic disorders. Because of the success and outcomes of public cord banking, many companies now provide private cord banking services. However, in the absence of any published transplant evidence to support autologous and non-directed family banking, commercial cord banks currently offer a superfluous service.

Color-coded perfusion analysis of CEUS for pre-interventional diagnosis of microvascularisation in cases of vascular malformations.

PubMed

Teusch, V I; Wohlgemuth, W A; Piehler, A P; Jung, E M

2014-01-01

Aim of our pilot study was the application of a contrast-enhanced color-coded ultrasound perfusion analysis in patients with vascular malformations to quantify microcirculatory alterations. 28 patients (16 female, 12 male, mean age 24.9 years) with high flow (n = 6) or slow-flow (n = 22) malformations were analyzed before intervention. An experienced examiner performed a color-coded Doppler sonography (CCDS) and a Power Doppler as well as a contrast-enhanced ultrasound after intravenous bolus injection of 1 - 2.4 ml of a second-generation ultrasound contrast medium (SonoVue®, Bracco, Milan). The contrast-enhanced examination was documented as a cine sequence over 60 s. The quantitative analysis based on color-coded contrast-enhanced ultrasound (CEUS) images included percentage peak enhancement (%peak), time to peak (TTP), area under the curve (AUC), and mean transit time (MTT). No side effects occurred after intravenous contrast injection. The mean %peak in arteriovenous malformations was almost twice as high as in slow-flow-malformations. The area under the curve was 4 times higher in arteriovenous malformations compared to the mean value of other malformations. The mean transit time was 1.4 times higher in high-flow-malformations compared to slow-flow-malformations. There was no difference regarding the time to peak between the different malformation types. The comparison between all vascular malformation and surrounding tissue showed statistically significant differences for all analyzed data (%peak, TTP, AUC, MTT; p < 0.01). High-flow and slow-flow vascular malformations had statistically significant differences in %peak (p < 0.01), AUC analysis (p < 0.01), and MTT (p < 0.05). Color-coded perfusion analysis of CEUS seems to be a promising technique for the dynamic assessment of microvasculature in vascular malformations.

Cord Blood Chimerism And Relapse After Haplo-Cord Transplantation

PubMed Central

van Besien, Koen; Koshy, Nebu; Gergis, Usama; Mayer, Sebastian; Cushing, Melissa; Rennert, Hannah; Slotky, Ronit; Mark, Tomer; Pearse, Roger; Rossi, Adriana; Phillips, Adrienne; Vasovic, Liljana; Ferrante, Rosanna; Hsu, Michael; Shore, Tsiporah

2018-01-01

Haplo-cord stem cell transplantation combines the infusion of CD34 selected hematopoietic progenitors from a haplo-identical donor with an umbilical cord blood graft from an unrelated donor and allows faster count recovery, with low rates of disease recurrence and chronic GVHD. But the contribution of the umbilical cord blood graft to long-term transplant outcome remains unclear. We analyzed 39 recipients of haplo-cord transplants with AML and MDS, engrafted and in remission at 2 months. Median age was 66 (18-72) and all had intermediate, high, or very high risk disease. Less than 20% UCB chimerism in the CD33 lineage was associated with an increased rate of disease recurrence (54% vs 11% P<0.0001) and decrease in one year progression-free (20% vs 55%, P=0.004) and overall survival (30% vs 62%, P=0.02). Less than 100% UCB chimerism in the CD3 lineage was associated with increase rate of disease recurrence (46% vs 12%, P=0.007) Persistent haplo-chimerism in the CD3 lineage was associated with an increased rate of disease recurrence (40% vs 15%, P=0.009) Chimerism did not predict for treatment related mortality. The cumulative incidence of acute GVHD by day 100 was 43%. The cumulative incidence of moderate/severe chronic GVHD was only 5%. Engraftment of the umbilical cord blood grafts provides powerful GVL effects which protect against disease recurrence and is associated with low risk of chronic GVHD. Engraftment of CD34 selected haplo-identical cells can lead to rapid development of circulating T-cells, but when these cells dominate, GVL-effects are limited and rates of disease recurrence are high. PMID:27333804

Directing Spinal Cord Plasticity: The Impact of Stretch Therapy on Functional Recovery after Spinal Cord Injury

DTIC Science & Technology

2015-10-01

AWARD NUMBER: W81XWH-12-1-0587 TITLE: Directing Spinal Cord Plasticity: The Impact of Stretch Therapy on Functional Recovery after Spinal Cord...3. DATES COVERED (From - To) 30Sep2014 - 29Sep2015 4. TITLE AND SUBTITLE Directing Spinal Cord Plasticity: The Impact of Stretch Therapy on...ABSTRACT Essentially all spinal cord injured patients receive stretching therapies beginning within the first few weeks post-injury. Despite this fact

Effect of 60Co gamma radiation on Biomphalaria glabrata (Mollusca, Gastropoda) embryos: mortality, malformation and hatching.

PubMed

Okazaki, K; Andrade Júnior, H F; Kawano, T

1996-08-01

A study was carried out on the radiosensitivity of Biomphalaria glabrata embryos submitted to doses of 5, 10, 15, 20 and 25 Gy of 60Co during the cleavage, blastula, gastrula, young trochophore and trochophore stages. Mortality, malformation and hatching were the parameters used to evaluate the damage induced by ionizing radiation. Estimated LD50 values (15 days) showed that the cleavage stage (4.3 Gy) was approximately four times more radiosensitive than the trochophore stage (17.0 Gy). Susceptibility to malformation induction was higher in the blastula, gastrula and young trochophore stages. Several types of morphogenetic malformations were observed, such as head malformations, exogastrulas, shell malformations, and embryos with everted stomodeum, with nonspecific malformations being the most frequent. The types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied. The dose of 15 Gy was sufficient to greatly reduce the number of hatching snails regardless of the embryonic stage irradiated. We conclude that the effect of 60Co gamma radiation on B. glabrata embryos presented a specific pattern.

Maternal Use of Opioids During Pregnancy and Congenital Malformations: A Systematic Review

PubMed Central

Lind, Jennifer N.; Interrante, Julia D.; Ailes, Elizabeth C.; Gilboa, Suzanne M.; Khan, Sara; Frey, Meghan T.; Dawson, April L.; Honein, Margaret A.; Dowling, Nicole F.; Razzaghi, Hilda; Creanga, Andreea A.; Broussard, Cheryl S.

2017-01-01

CONTEXT Opioid use and abuse have increased dramatically in recent years, particularly among women. OBJECTIVES We conducted a systematic review to evaluate the association between prenatal opioid use and congenital malformations. DATA SOURCES We searched Medline and Embase for studies published from 1946 to 2016 and reviewed reference lists to identify additional relevant studies. STUDY SELECTION We included studies that were full-text journal articles and reported the results of original epidemiologic research on prenatal opioid exposure and congenital malformations. We assessed study eligibility in multiple phases using a standardized, duplicate review process. DATA EXTRACTION Data on study characteristics, opioid exposure, timing of exposure during pregnancy, congenital malformations (collectively or as individual subtypes), length of follow-up, and main findings were extracted from eligible studies. RESULTS Of the 68 studies that met our inclusion criteria, 46 had an unexposed comparison group; of those, 30 performed statistical tests to measure associations between maternal opioid use during pregnancy and congenital malformations. Seventeen of these (10 of 12 case-control and 7 of 18 cohort studies) documented statistically significant positive associations. Among the case-control studies, associations with oral clefts and ventricular septal defects/atrial septal defects were the most frequently reported specific malformations. Among the cohort studies, clubfoot was the most frequently reported specific malformation. LIMITATIONS Variabilities in study design, poor study quality, and weaknesses with outcome and exposure measurement. CONCLUSIONS Uncertainty remains regarding the teratogenicity of opioids; a careful assessment of risks and benefits is warranted when considering opioid treatment for women of reproductive age. PMID:28562278

Patients with lymphatic malformations who receive the immunostimulant OK-432 experience excellent long-term outcomes.

PubMed

Ghaffarpour, N; Petrini, B; Svensson, L A; Boman, K; Wester, T; Claesson, G

2015-11-01

Sclerotherapy is the primary treatment for lymphatic malformations. The aim of this study was to evaluate the long-term outcome in patients with lymphatic malformations treated with the immunostimulant OK-432 as a sclerosant. Between 1998 and 2013, we enrolled 131 of 138 eligible patients treated with OK-432 for lymphatic malformations in a retrospective study. The malformations were categorised according to the International Society for the Study of Vascular Anomalies. The outcome was assessed with a clinical examination and a questionnaire. The lymphatic malformations were localised to the head/neck (60%), the trunk (20%) and the extremities (6%) or involved with more than one region (14%). Patients with microcystic (10%), macrocystic (21%) and mixed lymphatic malformations (69%) underwent a median number of three, two and two injection treatments, respectively. The median age at the first injection was 3.4 years. Good or excellent clinical outcomes were seen in 70% of the patients. The number of injections, previous treatment and lesion localisation, but not time to follow-up and cyst size, predicted the clinical outcome. OK-432 treatment resulted in a successful outcome in 70% of patients with lymphatic malformations. The long-term outcome was comparable to the short-term outcome. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

PubMed

Parsa, Cameron F; Robert, Matthieu P

2013-04-01

To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

Laser treatment of oral vascular malformations

NASA Astrophysics Data System (ADS)

Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

2014-01-01

Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

PubMed

Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

2017-03-01

Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

Editorial brain malformation surveillance in the Zika era

PubMed Central

Trevathan, Edwin

2016-01-01

The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

[Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

PubMed

Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

2016-01-01

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

Preoperative Embolization of Venous Malformations Using n-Butyl Cyanoacrylate.

PubMed

Uller, Wibke; El-Sobky, Sherif; Alomari, Ahmad I; Fishman, Steven J; Spencer, Samantha A; Taghinia, Amir H; Chaudry, Gulraiz

2018-05-01

The purpose of this study was to evaluate the safety and efficacy of preoperative percutaneous n-butyl cyanoacrylate (nBCA) embolization of venous malformations in children. Clinical data were retrospectively reviewed in children who underwent embolization using nBCA followed by resection of venous malformations. A total of 17 embolizations were performed in 14 patients (9 females, mean age: 5.5 years; median age: 3 years; range 0.1-16 years). The venous malformations involved the lower extremity and the knee joint (n = 7), the trunk (n = 4), head and neck (n = 2), and hand (n = 1). n-Butyl cyanoacrylate was diluted with iodized oil at a ratio of 1:3 to 1:5. The mean and median volume of nBCA per procedure were 2.1 and 2 mL, respectively (range: 0.5-8 mL). There were no complications associated with the procedures. The mean and median time between final embolization and resection were 3.6 and 2 days, respectively. All children underwent successful resection of the symptomatic lesions. The estimated mean and median blood loss were 75 and 50 mL, respectively (range: 5-350 mL). The postprocedure course was uneventful, the days to discharge ranged between 1 and 6 days (mean 3 days). Initial results suggest that preoperative percutaneous n-butyl cyanoacrylate embolization of venous malformations is safe and effective in children, with the potential for minimizing blood loss and inpatient stay.

Facial nerve mapping and monitoring in lymphatic malformation surgery.

PubMed

Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

2009-10-01

Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

Usher syndrome associated with a variant of Dandy-Walker malformation.

PubMed

Simsek, Tulay; Ozdamar, Yasemin; Simsek, Enver; Men, Gamze

2010-05-21

Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome. Copyright 2010, SLACK Incorporated.

Bad splits in bilateral sagittal split osteotomy: systematic review and meta-analysis of reported risk factors.

PubMed

Steenen, S A; van Wijk, A J; Becking, A G

2016-08-01

An unfavourable and unanticipated pattern of the bilateral sagittal split osteotomy (BSSO) is generally referred to as a 'bad split'. Patient factors predictive of a bad split reported in the literature are controversial. Suggested risk factors are reviewed in this article. A systematic review was undertaken, yielding a total of 30 studies published between 1971 and 2015 reporting the incidence of bad split and patient age, and/or surgical technique employed, and/or the presence of third molars. These included 22 retrospective cohort studies, six prospective cohort studies, one matched-pair analysis, and one case series. Spearman's rank correlation showed a statistically significant but weak correlation between increasing average age and increasing occurrence of bad splits in 18 studies (ρ=0.229; P<0.01). No comparative studies were found that assessed the incidence of bad split among the different splitting techniques. A meta-analysis pooling the effect sizes of seven cohort studies showed no significant difference in the incidence of bad split between cohorts of patients with third molars present and concomitantly removed during surgery, and patients in whom third molars were removed at least 6 months preoperatively (odds ratio 1.16, 95% confidence interval 0.73-1.85, Z=0.64, P=0.52). In summary, there is no robust evidence to date to show that any risk factor influences the incidence of bad split. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS

EPA Science Inventory

A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

Concentric Split Flow Filter

NASA Technical Reports Server (NTRS)

Stapleton, Thomas J. (Inventor)

2015-01-01

A concentric split flow filter may be configured to remove odor and/or bacteria from pumped air used to collect urine and fecal waste products. For instance, filter may be designed to effectively fill the volume that was previously considered wasted surrounding the transport tube of a waste management system. The concentric split flow filter may be configured to split the air flow, with substantially half of the air flow to be treated traveling through a first bed of filter media and substantially the other half of the air flow to be treated traveling through the second bed of filter media. This split flow design reduces the air velocity by 50%. In this way, the pressure drop of filter may be reduced by as much as a factor of 4 as compare to the conventional design.

Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs.

PubMed

Loeffler, I K; Stocum, D L; Fallon, J F; Meteyer, C U

2001-10-15

Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs

USGS Publications Warehouse

Loeffler, I.K.; Stocum, D.L.; Fallon, J.F.; Meteyer, C.U.

2001-01-01

Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

Experimental spinal cord trauma: a review of mechanically induced spinal cord injury in rat models.

PubMed

Abdullahi, Dauda; Annuar, Azlina Ahmad; Mohamad, Masro; Aziz, Izzuddin; Sanusi, Junedah

2017-01-01

It has been shown that animal spinal cord compression (using methods such as clips, balloons, spinal cord strapping, or calibrated forceps) mimics the persistent spinal canal occlusion that is common in human spinal cord injury (SCI). These methods can be used to investigate the effects of compression or to know the optimal timing of decompression (as duration of compression can affect the outcome of pathology) in acute SCI. Compression models involve prolonged cord compression and are distinct from contusion models, which apply only transient force to inflict an acute injury to the spinal cord. While the use of forceps to compress the spinal cord is a common choice due to it being inexpensive, it has not been critically assessed against the other methods to determine whether it is the best method to use. To date, there is no available review specifically focused on the current compression methods of inducing SCI in rats; thus, we performed a systematic and comprehensive publication search to identify studies on experimental spinalization in rat models, and this review discusses the advantages and limitations of each method.

In-vivo spinal cord deformation in flexion

NASA Astrophysics Data System (ADS)

Yuan, Qing; Dougherty, Lawrence; Margulies, Susan S.

1997-05-01

Traumatic mechanical loading of the head-neck complex results cervical spinal cord injury when the distortion of the cord is sufficient to produce functional or structural failure of the cord's neural and/or vascular components. Characterizing cervical spinal cord deformation during physiological loading conditions is an important step to defining a comprehensive injury threshold associated with acute spinal cord injury. In this study, in vivo quasi- static deformation of the cervical spinal cord during flexion of the neck in human volunteers was measured using magnetic resonance (MR) imaging of motion with spatial modulation of magnetization (SPAMM). A custom-designed device was built to guide the motion of the neck and enhance more reproducibility. the SPAMM pulse sequence labeled the tissue with a series of parallel tagging lines. A single- shot gradient-recalled-echo sequence was used to acquire the mid-sagittal image of the cervical spine. A comparison of the tagged line pattern in each MR reference and deformed image pair revealed the distortion of the spinal cord. The results showed the cervical spinal cord elongates during head flexion. The elongation experienced by the spinal cord varies linearly with head flexion, with the posterior surface of the cord stretching more than the anterior surface. The maximal elongation of the cord is about 12 percent of its original length.

Stomach arteriovenous malformation resected by laparoscopy-assisted surgery: A case report.

PubMed

Hotta, Masahiro; Yamamoto, Kazuhito; Cho, Kazumitsu; Takao, Yoshimune; Fukuoka, Takeshi; Uchida, Eiji

2016-05-01

Arteriovenous malformations of the stomach are an uncommon cause of upper GI bleeding. We report a case of stomach arteriovenous malformation in an 85-year-old Asian man who presented with massive hematemesis. Initial esophagogastroduodenoscopy did not detect this lesion, but contrast multi-detector CT confirmed GI bleeding. Multi-detector CT revealed a mass of blood vessels underlying the submucosa that arose from the right gastroepiploic artery. Repeat esophagogastroduodenoscopy showed that the lesion was a submucosal tumor with erosion and without active bleeding in the lower body of the stomach on the greater curvature. We performed partial gastrectomy via laparoscopy-assisted surgery. The histopathological diagnosis was arteriovenous malformation. © 2016 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.

Noninvasive Optical Monitoring of Spinal Cord Hemodynamics and Oxygenation after Acute Spinal Cord Injury

DTIC Science & Technology

2017-09-01

oxygen delivery and oxygen consumption . The oxygen portion of the Oxylite probe emits short pulses of blue LED light resulting in a fluorescent...Award Number: W81XWH-16-1-0602 TITLE: Noninvasive Optical Monitoring of Spinal Cord Hemodynamics and Oxygenation after Acute Spinal Cord Injury...COVERED 1 Sep 2016 - 31 Aug 2017 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Noninvasive Optical Monitoring of Spinal Cord Hemodynamics and Oxygenation

Neonatal arterial hypertension in nephro-urological malformations in a tertiary care hospital.

PubMed

Lanzarini, V V; Furusawa, E A; Sadeck, L; Leone, C R; Vaz, F A C; Koch, V H

2006-09-01

An increase in the survival of neonates with antenatal diagnosis of malformations was achieved by the recent technical advances in neonatal intensive care units. The aim of this article is to describe the experience with neonatal arterial hypertension, in newborns with nephro-urological malformations, in a tertiary care referral Nursery, in a period of 4 years. Newborn medical records from the Nursery Annex to the Maternity of Hospital das Clinicas, School of Medicine, University of Sao Paulo, with the diagnosis of nephro-urological malformations and systemic arterial hypertension (SAH) at hospital discharge, in a period from January 1999 to January 2003, were retrospectively analysed. Among 10.278 live newborns in the studied period, 15 (0.15%) newborns were compatible with our inclusion criteria. Of these 15 newborns, 12 (80%) were male and three were premature (20%). In relation to aetiology, 13 (87%) showed urological malformations, 1 (6%) chronic renal insufficiency secondary to kidney dysplasia and one (6%) autosomal recessive polycystic kidney disease. SAH control was achieved with monotherapy in eight patients (53%), five patients (33%) needed an association of two drugs (calcium-channel blocker and angiotensin converting enzyme (ACE) inhibitor), one child used three types of antihypertensive drugs (calcium-channel blocker, ACE inhibitor and hydrochlorothiazide) for pressoric control and one child's blood pressure (BP) was controlled exclusively by peritoneal dialysis. The incidence of nephro-urological malformations in our service during the studied period was 0.89%. SAH incidence among these newborns was 19%. Our data reinforce previous studies pointing to the necessity to consider children with nephro-urological malformations as a risk group for SAH, who should have the BP evaluated since the neonatal period.

Delayed clamping of the umbilical cord after delivery and implications for public cord blood banking.

PubMed

Allan, David S; Scrivens, Nicholas; Lawless, Tiffany; Mostert, Karen; Oppenheimer, Lawrence; Walker, Mark; Petraszko, Tanya; Elmoazzen, Heidi

2016-03-01

Public banking of umbilical cord blood units (CBUs) containing higher numbers of cells ensures timely engraftment after transplantation for increasing numbers of patients. Delayed clamping of the umbilical cord after birth may benefit some infants by preventing iron deficiency. Implications of delayed cord clamping for public cord blood banking remains unclear. CBUs collected by Canadian Blood Services at one collection site between November 1, 2014, and March 17, 2015, were analyzed. The delay in cord clamping after birth was timed and classified as "no delay," 20 to 60 seconds, more than 60 seconds, or more than 120 seconds. Of 367 collections, 100 reported no delay in clamping while clamping was delayed by 20 to 60 seconds (n = 69), more than 60 seconds (n = 98), or more than 120 seconds (n = 100) in the remaining cases. The mean volume and total nucleated cells (TNCs) in units with no delay in clamping were significantly greater than mean volumes for all categories of delayed clamping (Tukey's test, p < 0.05 for each comparison). The proportion of units with more than 1.5 × 10(9) TNCs was significantly reduced when clamping was delayed (p = 5.5 × 10(-8) ). The difference was most marked for cords that were clamped more than 120 seconds after delivery (6.2% compared with 39%). Delayed cord clamping greatly diminishes the volume and TNC count of units collected for a public cord blood bank. Creating an inventory of CBUs with high TNC content may take more time than expected. © 2015 AABB.

[Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice].

PubMed

Gu, Y; Hasegawa, T; Kim, H; Suzuki, I; Mori, T; Yamamoto, Y

2000-12-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2-(alpha-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level.

Evaluation of Mandibular Anatomy Associated With Bad Splits in Sagittal Split Ramus Osteotomy of Mandible.

PubMed

Wang, Tongyue; Han, Jeong Joon; Oh, Hee-Kyun; Park, Hong-Ju; Jung, Seunggon; Park, Yeong-Joon; Kook, Min-Suk

2016-07-01

This study aimed to identify risk factors associated with bad splits during sagittal split ramus osteotomy by using three-dimensional computed tomography. This study included 8 bad splits and 47 normal patients without bad splits. Mandibular anatomic parameters related to osteotomy line were measured. These included anteroposterior width of the ramus at level of lingula, distance between external oblique ridge and lingula, distance between sigmoid notch and inferior border of mandible, mandibular angle, distance between inferior outer surface of mandibular canal and inferior border of mandible under distal root of second molar (MCEM), buccolingual thickness of the ramus at level of lingula, and buccolingual thickness of the area just distal to first molar (BTM1) and second molar (BTM2). The incidence of bad splits in 625 sagittal split osteotomies was 1.28%. Compared with normal group, bad split group exhibited significantly thinner BTM2 and shorter sigmoid notch and inferior border of mandible (P <0.05). However, for BTM1 and buccolingual thickness of the ramus at level of lingula, there was no statistical difference between the 2 groups. Mandibular angle, anteroposterior width of the ramus at level of lingula, external oblique ridge and lingula, and MCEM were not significantly different between the groups. This study suggests that patients with shorter ramus and low thickness of the buccolingual alveolar region distal to the second molar had a higher risk of bad splits. These anatomic data may help surgeons to choose the safest surgical techniques and best osteotomy sites.

Management of chronic spinal cord dysfunction.

PubMed

Abrams, Gary M; Ganguly, Karunesh

2015-02-01

Both acute and chronic spinal cord disorders present multisystem management problems to the clinician. This article highlights key issues associated with chronic spinal cord dysfunction. Advances in symptomatic management for chronic spinal cord dysfunction include use of botulinum toxin to manage detrusor hyperreflexia, pregabalin for management of neuropathic pain, and intensive locomotor training for improved walking ability in incomplete spinal cord injuries. The care of spinal cord dysfunction has advanced significantly over the past 2 decades. Management and treatment of neurologic and non-neurologic complications of chronic myelopathies ensure that each patient will be able to maximize their functional independence and quality of life.

Maternal reproductive history and the risk of isolated congenital malformations.

PubMed

Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

2011-03-01

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

Computational modelling for the embolization of brain arteriovenous malformations.

PubMed

Orlowski, Piotr; Summers, Paul; Noble, J Alison; Byrne, James; Ventikos, Yiannis

2012-09-01

Treatment of arteriovenous malformations (AVMs) of the brain often requires the injection of a liquid embolic material to reduce blood flow through the malformation. The type of the liquid and the location of injection have to be carefully planned in a pre-operative manner. We introduce a new model of the interaction of liquid embolic materials with blood for the simulation of their propagation and solidification in the AVM. Solidification is mimicked by an increase of the material's viscosity. Propagation is modelled by using the concept of two-fluids modelling and that of scalar transport. The method is tested on digital phantoms and on one anatomically derived patient AVM case. Simulations showed that intuitive behaviour of the two-fluid system can be confirmed and that two types of glue propagation through the malformation can be reproduced. Distinction between the two types of propagation could be used to identify fistulous and plexiform compartments composing the AVM and to characterize the solidification of the embolic material in them. Copyright © 2011 IPEM. Published by Elsevier Ltd. All rights reserved.

Entropy Splitting and Numerical Dissipation

NASA Technical Reports Server (NTRS)

Yee, H. C.; Vinokur, M.; Djomehri, M. J.

1999-01-01

A rigorous stability estimate for arbitrary order of accuracy of spatial central difference schemes for initial-boundary value problems of nonlinear symmetrizable systems of hyperbolic conservation laws was established recently by Olsson and Oliger (1994) and Olsson (1995) and was applied to the two-dimensional compressible Euler equations for a perfect gas by Gerritsen and Olsson (1996) and Gerritsen (1996). The basic building block in developing the stability estimate is a generalized energy approach based on a special splitting of the flux derivative via a convex entropy function and certain homogeneous properties. Due to some of the unique properties of the compressible Euler equations for a perfect gas, the splitting resulted in the sum of a conservative portion and a non-conservative portion of the flux derivative. hereafter referred to as the "Entropy Splitting." There are several potential desirable attributes and side benefits of the entropy splitting for the compressible Euler equations that were not fully explored in Gerritsen and Olsson. The paper has several objectives. The first is to investigate the choice of the arbitrary parameter that determines the amount of splitting and its dependence on the type of physics of current interest to computational fluid dynamics. The second is to investigate in what manner the splitting affects the nonlinear stability of the central schemes for long time integrations of unsteady flows such as in nonlinear aeroacoustics and turbulence dynamics. If numerical dissipation indeed is needed to stabilize the central scheme, can the splitting help minimize the numerical dissipation compared to its un-split cousin? Extensive numerical study on the vortex preservation capability of the splitting in conjunction with central schemes for long time integrations will be presented. The third is to study the effect of the non-conservative proportion of splitting in obtaining the correct shock location for high speed complex shock

Discrepancy between the clinical and histopathologic diagnosis of soft tissue vascular malformations.

PubMed

Horbach, Sophie E R; Utami, Amalia M; Meijer-Jorna, Lorine B; Sillevis Smitt, J H; Spuls, Phyllis I; van der Horst, Chantal M A M; van der Wal, Allard C

2017-11-01

Soft tissue vascular malformations are generally diagnosed clinically, according to the International Society for the Study of Vascular Anomalies (ISSVA) classification. Diagnostic histopathologic examination is rarely performed. We sought to evaluate the validity of the current diagnostic workup without routinely performed diagnostic histopathology. We retrospectively determined whether there were discrepancies between clinical and histopathologic diagnoses of patients with clinically diagnosed vascular malformations undergoing therapeutic surgical resections in our center (2000-2015). Beforehand, a pathologist revised the histopathologic diagnoses according to the ISSVA classification. Clinical and histopathologic diagnoses were discrepant in 57% of 142 cases. In these cases, the pathologist indicated the diagnosis was not at all a vascular malformation (n = 24; 17%), a completely different type of vascular malformation (n = 26; 18%), or a partially different type with regard to the combination of vessel-types involved (n = 31; 22%). Possible factors associated with the discrepancies were both clinician-related (eg, diagnostic uncertainty) and pathology-related (eg, lack of immunostaining). Retrospective analysis of a subgroup of patients undergoing surgery. The large discrepancy between clinical and histopathologic diagnoses raises doubt about the validity of the current diagnostic workup for vascular malformations. Clear clinical and histopathologic diagnostic criteria might be essential for a uniform diagnosis. Copyright © 2017 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Chiari I malformation presenting as downbeat nystagmus: clinical presentation, diagnosis, and management.

PubMed

Goodwin, Denise; Halvorson, Ami R

2012-02-15

Chiari I malformation is a congenital, neurological condition that is characterized by defects of the skull base resulting in herniation of the cerebellum through the foramen magnum into the cervical spinal canal. Because the condition can result in visual symptoms, patients will often search for answers from their eye care providers; A 28-year-old Hispanic diabetic male with a 10-year history of nystagmus was referred to the neuro-ophthalmic disease clinic following the initiation of oscillopsia 1 year previous. Downbeat nystagmus, which worsened in right and down gaze, was evident. Cranial nerve testing was unremarkable, but the patient did report trouble with choking on food and drink. Neuroimaging revealed Chiari I malformation. The patient underwent a suboccipital craniectomy which resulted in lessened nystagmus and improved symptoms; The majority of patients with Chiari I malformation have an onset of symptoms in the second or third decade of life. Most commonly, a suboccipital headache that worsens with Valsalva maneuver is present. Visual symptoms include retro-orbital pain, flashing lights or floaters, blurred vision, photophobia, diplopia, transient vision loss, and peripheral vision loss. Objective evidence is often lacking in these patients; however, horizontal or vertical nystagmus is present in up to 45% of those with Chiari I malformation. Surgery has proven to be an effective and safe method to treat symptomatic Chiari I malformation. American Optometric Association.

Cord Blood Banking for Potential Future Transplantation.

PubMed

Shearer, William T; Lubin, Bertram H; Cairo, Mitchell S; Notarangelo, Luigi D

2017-11-01

This policy statement is intended to provide information to guide pediatricians, obstetricians, and other medical specialists and health care providers in responding to parents' questions about cord blood donation and banking as well as the types (public versus private) and quality of cord blood banks. Cord blood is an excellent source of stem cells for hematopoietic stem cell transplantation in children with some fatal diseases. Cord blood transplantation offers another method of definitive therapy for infants, children, and adults with certain hematologic malignancies, hemoglobinopathies, severe forms of T-lymphocyte and other immunodeficiencies, and metabolic diseases. The development of universal screening for severe immunodeficiency assay in a growing number of states is likely to increase the number of cord blood transplants. Both public and private cord blood banks worldwide hold hundreds of thousands of cord blood units designated for the treatment of fatal or debilitating illnesses. The procurement, characterization, and cryopreservation of cord blood is free for families who choose public banking. However, the family cost for private banking is significant and not covered by insurance, and the unit may never be used. Quality-assessment reviews by several national and international accrediting bodies show private cord blood banks to be underused for treatment, less regulated for quality control, and more expensive for the family than public cord blood banks. There is an unquestionable need to study the use of cord blood banking to make new and important alternative means of reconstituting the hematopoietic blood system in patients with malignancies and blood disorders and possibly regenerating tissue systems in the future. Recommendations regarding appropriate ethical and operational standards (including informed consent policies, financial disclosures, and conflict-of-interest policies) are provided for physicians, institutions, and organizations that

Hind limb malformations in free-living northern leopard frogs (Rana pipiens) from Maine, Minnesota, and Vermont suggest multiple etiologies

USGS Publications Warehouse

Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.

Proximity to Pollution Sources and Risk of Amphibian Limb Malformation

PubMed Central

Taylor, Brynn; Skelly, David; Demarchis, Livia K.; Slade, Martin D.; Galusha, Deron; Rabinowitz, Peter M.

2005-01-01

The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42–3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

Proximity to pollution sources and risk of amphibian limb malformation.

PubMed

Taylor, Brynn; Skelly, David; Demarchis, Livia K; Slade, Martin D; Galusha, Deron; Rabinowitz, Peter M

2005-11-01

The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42-3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem.

Noncoding copy-number variations are associated with congenital limb malformation.

PubMed

Flöttmann, Ricarda; Kragesteen, Bjørt K; Geuer, Sinje; Socha, Magdalena; Allou, Lila; Sowińska-Seidler, Anna; Bosquillon de Jarcy, Laure; Wagner, Johannes; Jamsheer, Aleksander; Oehl-Jaschkowitz, Barbara; Wittler, Lars; de Silva, Deepthi; Kurth, Ingo; Maya, Idit; Santos-Simarro, Fernando; Hülsemann, Wiebke; Klopocki, Eva; Mountford, Roger; Fryer, Alan; Borck, Guntram; Horn, Denise; Lapunzina, Pablo; Wilson, Meredith; Mascrez, Bénédicte; Duboule, Denis; Mundlos, Stefan; Spielmann, Malte

2017-10-12

PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of disease-associated CNVs in patients with congenital limb malformations that affect noncoding cis-regulatory sequences versus genes sensitive to gene dosage effects.MethodsWe applied high-resolution copy-number analysis to 340 unrelated individuals with isolated limb malformation. To investigate novel candidate CNVs, we re-engineered human CNVs in mice using clustered regularly interspaced short palindromic repeats (CRISPR)-based genome editing.ResultsOf the individuals studied, 10% harbored CNVs segregating with the phenotype in the affected families. We identified 31 CNVs previously associated with congenital limb malformations and four novel candidate CNVs. Most of the disease-associated CNVs (57%) affected the noncoding cis-regulatory genome, while only 43% included a known disease gene and were likely to result from gene dosage effects. In transgenic mice harboring four novel candidate CNVs, we observed altered gene expression in all cases, indicating that the CNVs had a regulatory effect either by changing the enhancer dosage or altering the topological associating domain architecture of the genome.ConclusionOur findings suggest that CNVs affecting noncoding regulatory elements are a major cause of congenital limb malformations.Genetics in Medicine advance online publication, 12 October 2017; doi:10.1038/gim.2017.154.

Vocal cord paralysis after aortic surgery.

PubMed

DiLisio, Ralph P; Mazzeffi, Michael A; Bodian, Carol A; Fischer, Gregory W

2013-06-01

The purpose of this study was to investigate variables associated with vocal cord paralysis during complex aortic procedures. A retrospective review. A tertiary care center. Four hundred ninety-eight patients who underwent aortic surgery between 2002 and 2007. Two groups were studied. Group A patients had procedures only involving their aortic root and/or ascending aorta. Group B patients had procedures only involving their aortic arch and/or descending aorta. The incidence of vocal cord paralysis was higher (7.26% v 0.8%) in group B patients (p < 0.0001). Increasing the duration of cardiopulmonary bypass time was associated with an increased risk of vocal cord paralysis and death in both groups A and B (p = 0.0002 and 0.002, respectively). Additionally, within group B, descending aneurysms emerged as an independent risk factor associated with vocal cord paralysis (p = 0.03). Length of stay was statistically significantly longer among group A patients who suffered vocal cord paralysis (p = 0.017) and trended toward significance in group B patients who suffered vocal cord paralysis (p = 0.059). The association between tracheostomy and vocal cord paralysis among group A patients reached statistical significance (p = 0.007) and trended toward significance in group B patients (p = 0.057). Increasing duration of cardiopulmonary bypass time was associated with a higher risk of vocal cord paralysis in patients undergoing aortic surgery. Additionally, within group B patients, descending aortic aneurysm was an independent risk factor associated with vocal cord paralysis. Most importantly, vocal cord paralysis appeared to have an association between an increased length of stay and tracheostomy among a select group of patients undergoing aortic surgery. Copyright © 2013 Elsevier Inc. All rights reserved.

Long-Term Follow-up After Embolization of Pulmonary Arteriovenous Malformations with Detachable Silicone Balloons

DOE Office of Scientific and Technical Information (OSTI.GOV)

Andersen, Poul Erik; Kjeldsen, Anette D.

2008-05-15

Long-term follow-up results after embolization of 13 pulmonary arteriovenous malformations in 10 patients by use of 14 detachable silicone balloons are given. Patients were followed for a mean of 99 months (range, 63-123 months) with chest x-rays and for a mean of 62 months (range, 3-101 months) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not available anymore, but use of these balloons for embolization of pulmonary arteriovenousmore » malformations has been shown to be a safe and precise method, with immediate occlusion of the feeding artery and with long-lasting occlusion, even though many balloons deflate with time, leaving a fibrotic scar replacing the pulmonary arteriovenous malformation. No case of recanalization has been discovered, and these results seem to justify a reduced number of controls of these balloon-embolized malformations.« less

Orbital venous malformation: percutaneous treatment using an electrolytically detachable fibred coil.

PubMed

Diolaiuti, Sara; Iizuka, Tateyuki; Schroth, Gerhard; Remonda, Luca; Laedrach, Kurt; El-Koussy, Marwan; Frueh, Beatrice E; Goldblum, David

2009-03-01

To report the efficacy of percutaneous treatment of an orbital venous malformation with an electrolytically detachable fibred coil. We report an instance of radiography-guided percutaneous treatment with an electrolytically detachable fibred coil in a 16-year-old boy with acute, spontaneous, painless proptosis on the left side, which progressed with time. Magnetic resonance imaging, angiography and orbitophlebography revealed a low-flow, intraorbital venous malformation. Percutaneous puncture and drainage were followed by a short remission. Following an acute recurrence, a single detachable fibred coil was deployed via a percutaneous approach under angiographic guidance. No radiological or clinical recurrences were observed over 4 years. Embolization of a deep orbital venous malformation with detachable fibred coils via a percutaneous approach can be highly effective, and may be considered before proceeding with open surgery.

Long-term psychosocial consequences of surgical congenital malformations.

PubMed

Diseth, Trond H; Emblem, Ragnhild

2017-10-01

Surgical congenital malformations often represent years of treatment, large number of hospital stays, treatment procedures, and long-term functional sequels affecting patients' psychosocial functioning. Both functional defects and psychosocial difficulties that occur commonly in childhood may pass through adolescence on to adulthood. This overview presents reports published over the past 3 decades to elucidate the long-term psychosocial consequences of surgical congenital malformations. Literature searches conducted on PubMed database revealed that less than 1% of all the records of surgical congenital malformations described long-term psychosocial consequences, but with diverse findings. This inconsistency may be due to methodological differences or deficiencies; especially in study design, patient sampling, and methods. Most of the studies revealed that the functional deficits may have great impact on patients' mental health, psychosocial functioning, and QoL; both short- and long-term negative consequences. Factors other than functional problems, e.g., repeated anesthesia, multiple hospitalization, traumatic treatment procedures, and parental dysfunctioning, may also predict long-term mental health and psychosocial functioning. Through multidisciplinary approach, pediatric surgeons should also be aware of deficits in emotional and psychosocial functioning. To achieve overall optimal psychosocial functioning, the challenge is to find a compromise between physically optimal treatment procedures and procedures that are not psychologically detrimental. Copyright © 2017. Published by Elsevier Inc.

Multispectral assessment of skin malformations using a modified video-microscope

NASA Astrophysics Data System (ADS)

Bekina, A.; Diebele, I.; Rubins, U.; Zaharans, J.; Derjabo, A.; Spigulis, J.

2012-10-01

A simplified method is proposed for alternative clinical diagnostics of skin malformations. A modified digital microscope, additionally equipped with a fourcolour LED (450 nm, 545 nm, 660 nm and 940 nm) subsequent illumination system, was applied for assessment of skin cancerous lesions and cutaneous inflammations. Multispectral image analysis was performed to map distributions of skin erythema index, bilirubin index, melanoma/nevus differentiation parameter, and fluorescence indicator. The skin malformation monitoring has shown that it is possible to differentiate melanoma from other pathologies.

Congenital malformations among babies born following letrozole or clomiphene for infertility treatment.

PubMed

Sharma, Sunita; Ghosh, Sanghamitra; Singh, Soma; Chakravarty, Astha; Ganesh, Ashalatha; Rajani, Shweta; Chakravarty, B N

2014-01-01

Clomiphene citrate (CC) is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations. To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment. A retrospective cohort study done at a tertiary infertility centre. A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied. Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9%) babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5%) and in 10 of 251 babies in the CC group (3.9%). There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment. Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for.

Twiddler's syndrome in spinal cord stimulation.

PubMed

Al-Mahfoudh, Rafid; Chan, Yuen; Chong, Hsu Pheen; Farah, Jibril Osman

2016-01-01

The aims are to present a case series of Twiddler's syndrome in spinal cord stimulators with analysis of the possible mechanism of this syndrome and discuss how this phenomenon can be prevented. Data were collected retrospectively between 2007 and 2013 for all patients presenting with failure of spinal cord stimulators. The diagnostic criterion for Twiddler's syndrome is radiological evidence of twisting of wires in the presence of failure of spinal cord stimulation. Our unit implants on average 110 spinal cord stimulators a year. Over the 5-year study period, all consecutive cases of spinal cord stimulation failure were studied. Three patients with Twiddler's syndrome were identified. Presentation ranged from 4 to 228 weeks after implantation. Imaging revealed repeated rotations and twisting of the wires of the spinal cord stimulators leading to hardware failure. To the best of our knowledge this is the first reported series of Twiddler's syndrome with implantable pulse generators (IPGs) for spinal cord stimulation. Hardware failure is not uncommon in spinal cord stimulation. Awareness and identification of Twiddler's syndrome may help prevent its occurrence and further revisions. This may be achieved by implanting the IPG in the lumbar region subcutaneously above the belt line. Psychological intervention may have a preventative role for those who are deemed at high risk of Twiddler's syndrome from initial psychological screening.

A new flux splitting scheme

NASA Technical Reports Server (NTRS)

Liou, Meng-Sing; Steffen, Christopher J., Jr.

1993-01-01

A new flux splitting scheme is proposed. The scheme is remarkably simple and yet its accuracy rivals and in some cases surpasses that of Roe's solver in the Euler and Navier-Stokes solutions performed in this study. The scheme is robust and converges as fast as the Roe splitting. An approximately defined cell-face advection Mach number is proposed using values from the two straddling cells via associated characteristic speeds. This interface Mach number is then used to determine the upwind extrapolation for the convective quantities. Accordingly, the name of the scheme is coined as Advection Upstream Splitting Method (AUSM). A new pressure splitting is introduced which is shown to behave successfully, yielding much smoother results than other existing pressure splittings. Of particular interest is the supersonic blunt body problem in which the Roe scheme gives anomalous solutions. The AUSM produces correct solutions without difficulty for a wide range of flow conditions as well as grids.

A new flux splitting scheme

NASA Technical Reports Server (NTRS)

Liou, Meng-Sing; Steffen, Christopher J., Jr.

1991-01-01

A new flux splitting scheme is proposed. The scheme is remarkably simple and yet its accuracy rivals and in some cases surpasses that of Roe's solver in the Euler and Navier-Stokes solutions performed in this study. The scheme is robust and converges as fast as the Roe splitting. An approximately defined cell-face advection Mach number is proposed using values from the two straddling cells via associated characteristic speeds. This interface Mach number is then used to determine the upwind extrapolation for the convective quantities. Accordingly, the name of the scheme is coined as Advection Upstream Splitting Method (AUSM). A new pressure splitting is introduced which is shown to behave successfully, yielding much smoother results than other existing pressure splittings. Of particular interest is the supersonic blunt body problem in which the Roe scheme gives anomalous solutions. The AUSM produces correct solutions without difficulty for a wide range of flow conditions as well as grids.

Umbilical Cord Blood: Information for Childbirth Educators

PubMed Central

Waller-Wise, Renece

2011-01-01

Umbilical cord blood was once thought of as a waste product. Now, years after the first successful umbilical cord blood transplant, more families seek information about whether or not to save their newborn’s cord blood. Childbirth educators may be one of the main sources that an expectant family depends on to gain more knowledge about cord blood banking in order to make an informed decision. Preserving umbilical cord blood in public banks is advisable for any family; however, it is recommended that expectant families only consider private cord blood banking when they have a relative with a known disorder that is treatable by stem cell transplants. The childbirth educator is encouraged to be well versed on the topic of cord blood banking, so that as questions from class participants arise, the topic can be explored and addressed appropriately. PMID:22211060

[The embolisation of venous malformations].

PubMed

Barbera, L; Fiedler, H-W; Krauss, M

2012-10-01

The treatment of congenital, vascular malformations is a challenge for physicians and patients. Although different therapeutic options have been described to date, their individual relevance has still to be defined. Â METHODS: We performed a retrospective study of 61 patients with a venous malformation (VM, mean age 22  years), who were referred to our depart-ment during the last 5 years. The size of the VM was larger than 5  cm in 41 patients (66 %). The lower extremities were involved in 45  cases (73 %). The most frequent clinical manifestations were recurrent swelling (80 %), pain (63 %), varicosis (60 %) and thrombophlebitis (39 %). MR angiography with venous sequences was always performed before treatment. Depending on the localisation and the extension of the VM, different techniques of embolisation were selected: foam sclerotherapy or application of synthetic glue by direct punction, coiling of pelvic veins or arterial embolisation with glue. 42  patients (69 %) underwent a procedure because of the complaints or the extension of the VM. An embolisation was performed in 25  patients with 65  interventional sessions. The most frequent technique was foam sclerotherapy (45 ×), followed by glue injection (13 ×), pelvic -venous coiling (6 ×) and arterial embolisation with glue (1 ×). Fifteen patients (60 %) reported a very good and 8  patients a marked improvement (32 %). In two cases there was no change of the complaints. The postinterventional complications were severe pain (n = 3) and skin/fat necrosis at the toe of one patient. The embolisation of venous malformations is an effective therapeutic tool. Different techniques can be used to address specific localisations and morphological patterns. The com-plication rate is very low when a step-by-step -approach is used, so that a repeat intervention is feasible. However, a more specific documentation of the post-interventional changes of the VM is needed

Newborn umbilical cord and skin care in Sylhet District, Bangladesh: Implications for promotion of umbilical cord cleansing with topical chlorhexidine

PubMed Central

Alam, Ashraful; Ali, Nabeel Ashraf; Sultana, Nighat; Mullany, Luke C.; Teela, Katherine C.; Khan, Nazib Uz Zaman; Baqui, Abdullah H.; Arifeen, Shams El; Mannan, Ishtiaq; Darmstadt, Gary L.; Winch, Peter J.

2010-01-01

Background Newborn cord care practices may directly contribute to infections, which account for a large proportion of the 4 million annual global neonatal deaths. This formative research study assessed current umbilical and skin care knowledge and practices for neonates in Sylhet, Bangladesh in preparation for a cluster-randomised trial of the impact of topical chlorhexidine cord cleansing on neonatal mortality and omphalitis. Methodology Unstructured interviews (n=60), structured observations (n=20), rating and ranking exercises (n=40), and household surveys (n=400) were conducted to elicit specific behaviours regarding newborn cord and skin care practices. These included hand-washing, skin and cord care at the time of birth, persons engaged in cord care, cord cutting practices, topical applications to the cord at the time of birth, wrapping/dressing of the cord stump, and use of skin-to-skin care. Results Ninety percent of deliveries occurred at home. The umbilical cord was almost always (98%) cut after delivery of the placenta, and cut by mothers in more than half the cases (57%). Substances were commonly (52%) applied to the stump after cord cutting; turmeric was the most common application (83%). Umbilical stump care revolved around bathing, skin massage with mustard oil, and heat massage on the umbilical stump. Forty-two percent of newborns were bathed on the day of birth. Mothers were the principal provider for skin and cord care during the neonatal period and 9% reported umbilical infections in their infants. Discussion Unhygienic cord care practices are prevalent in the study area. Efforts to promote hand washing, cord cutting with clean instruments, and avoiding unclean home applications to the cord may reduce exposure and improve neonatal outcomes. Such efforts should broadly target a range of caregivers, including mothers and other female household members. PMID:19057570

Optical signal splitting and chirping device modeling

NASA Astrophysics Data System (ADS)

Vinogradova, Irina L.; Andrianova, Anna V.; Meshkov, Ivan K.; Sultanov, Albert Kh.; Abdrakhmanova, Guzel I.; Grakhova, Elizaveta P.; Ishmyarov, Arsen A.; Yantilina, Liliya Z.; Kutlieva, Gulnaz R.

2017-04-01

This article examines the devices for optical signal splitting and chirping device modeling. Models with splitting and switching functions are taken into consideration. The described device for optical signal splitting and chirping represents interferential splitter with profiled mixer which provides allocation of correspondent spectral component from ultra wide band frequency diapason, and signal phase shift for aerial array (AA) directive diagram control. This paper proposes modeling for two types of devices for optical signal splitting and chirping: the interference-type optical signal splitting and chirping device and the long-distance-type optical signal splitting and chirping device.

Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation.

PubMed

Themistocleous, Marios; Giakoumettis, Dimitrios; Mitsios, Andreas; Anagnostopoulos, Christos; Kalyvas, Aristoteles; Koutsarnakis, Christos

2016-01-01

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present report we describe a case of cerebral abscess due to silent pulmonary arteriovenous malformation (AVM) in a young patient previously undiagnosed for hereditary hemorrhagic telangiectasia syndrome (HHT).

Bad split during bilateral sagittal split osteotomy of the mandible with separators: a retrospective study of 427 patients.

PubMed

Mensink, Gertjan; Verweij, Jop P; Frank, Michael D; Eelco Bergsma, J; Richard van Merkesteyn, J P

2013-09-01

An unfavourable fracture, known as a bad split, is a common operative complication in bilateral sagittal split osteotomy (BSSO). The reported incidence ranges from 0.5 to 5.5%/site. Since 1994 we have used sagittal splitters and separators instead of chisels for BSSO in our clinic in an attempt to prevent postoperative hypoaesthesia. Theoretically an increased percentage of bad splits could be expected with this technique. In this retrospective study we aimed to find out the incidence of bad splits associated with BSSO done with splitters and separators. We also assessed the risk factors for bad splits. The study group comprised 427 consecutive patients among whom the incidence of bad splits was 2.0%/site, which is well within the reported range. The only predictive factor for a bad split was the removal of third molars at the same time as BSSO. There was no significant association between bad splits and age, sex, class of occlusion, or the experience of the surgeon. We think that doing a BSSO with splitters and separators instead of chisels does not increase the risk of a bad split, and is therefore safe with predictable results. Copyright © 2012 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Reliable and fast volumetry of the lumbar spinal cord using cord image analyser (Cordial).

PubMed

Tsagkas, Charidimos; Altermatt, Anna; Bonati, Ulrike; Pezold, Simon; Reinhard, Julia; Amann, Michael; Cattin, Philippe; Wuerfel, Jens; Fischer, Dirk; Parmar, Katrin; Fischmann, Arne

2018-04-30

To validate the precision and accuracy of the semi-automated cord image analyser (Cordial) for lumbar spinal cord (SC) volumetry in 3D T1w MRI data of healthy controls (HC). 40 3D T1w images of 10 HC (w/m: 6/4; age range: 18-41 years) were acquired at one 3T-scanner in two MRI sessions (time interval 14.9±6.1 days). Each subject was scanned twice per session, allowing determination of test-retest reliability both in back-to-back (intra-session) and scan-rescan images (inter-session). Cordial was applied for lumbar cord segmentation twice per image by two raters, allowing for assessment of intra- and inter-rater reliability, and compared to a manual gold standard. While manually segmented volumes were larger (mean: 2028±245 mm 3 vs. Cordial: 1636±300 mm 3 , p<0.001), accuracy assessments between manually and semi-automatically segmented images showed a mean Dice-coefficient of 0.88±0.05. Calculation of within-subject coefficients of variation (COV) demonstrated high intra-session (1.22-1.86%), inter-session (1.26-1.84%), as well as intra-rater (1.73-1.83%) reproducibility. No significant difference was shown between intra- and inter-session reproducibility or between intra-rater reliabilities. Although inter-rater reproducibility (COV: 2.87%) was slightly lower compared to all other reproducibility measures, between rater consistency was very strong (intraclass correlation coefficient: 0.974). While under-estimating the lumbar SCV, Cordial still provides excellent inter- and intra-session reproducibility showing high potential for application in longitudinal trials. • Lumbar spinal cord segmentation using the semi-automated cord image analyser (Cordial) is feasible. • Lumbar spinal cord is 40-mm cord segment 60 mm above conus medullaris. • Cordial provides excellent inter- and intra-session reproducibility in lumbar spinal cord region. • Cordial shows high potential for application in longitudinal trials.

Trends over time in congenital malformations in live-born children conceived after assisted reproductive technology.

PubMed

Henningsen, Anna-Karina A; Bergh, Christina; Skjaerven, Rolv; Tiitinen, Aila; Wennerholm, Ulla-Britt; Romundstad, Liv B; Gissler, Mika; Opdahl, Signe; Nyboe Andersen, Anders; Lidegaard, Øjvind; Forman, Julie L; Pinborg, Anja

2018-07-01

Children born after assisted reproductive technology, particularly singletons, have been shown to have an increased risk of congenital malformations compared with children born after spontaneous conception. We wished to study whether there has been a change in the past 20 years in the risk of major congenital malformations in children conceived after assisted reproductive technology compared with children spontaneously conceived. Population-based cohort study including 90 201 assisted reproductive technology children and 482 552 children spontaneously conceived, born in Denmark, Finland, Norway and Sweden. Both singletons and twins born after in vitro fertilization, intracytoplasmatic sperm injection and frozen embryo transfer were included. Data on children were taken from when the national Nordic assisted reproductive technology registries were established until 2007. Multiple logistic regression analyses were used to estimate the risks and adjusted odds ratios for congenital malformations in four time periods: 1988-1992, 1993-1997, 1998-2002 and 2003-2007. Only major malformations were included. The absolute risk for singletons of being born with a major malformation was 3.4% among assisted reproductive technology children vs. 2.9% among children spontaneously conceived during the study period. The relative risk of being born with a major congenital malformation between all assisted reproductive technology children and children spontaneously conceived remained similar through all four time periods (p = 0.39). However, we found that over time the number of children diagnosed with a major malformation increased in both groups across all four time periods. When comparing children conceived after assisted reproductive technology and spontaneously conceived, the relative risk of being born with a major congenital malformation did not change during the study period. © 2018 Nordic Federation of Societies of Obstetrics and Gynecology.

Umbilical Cord Blood: Counselling, Collection, and Banking.

PubMed

Armson, B Anthony; Allan, David S; Casper, Robert F

2015-09-01

To review current evidence regarding umbilical cord blood counselling, collection, and banking and to provide guidelines for Canadian health care professionals regarding patient education, informed consent, procedural aspects, and options for cord blood banking in Canada. Selective or routine collection and banking of umbilical cord blood for future stem cell transplantation for autologous (self) or allogeneic (related or unrelated) treatment of malignant and non-malignant disorders in children and adults. Cord blood can be collected using in utero or ex utero techniques. Umbilical cord blood counselling, collection, and banking, education of health care professionals, indications for cord blood collection, short- and long-term risk and benefits, maternal and perinatal morbidity, parental satisfaction, and health care costs. Published literature was retrieved through searches of Medline and PubMed beginning in September 2013 using appropriate controlled MeSH vocabulary (fetal blood, pregnancy, transplantation, ethics) and key words (umbilical cord blood, banking, collection, pregnancy, transplantation, ethics, public, private). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date limits, but results were limited to English or French language materials. Searches were updated on a regular basis and incorporated in the guideline to September 2014. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Umbilical cord blood is a readily available source of hematopoetic stem cells used with increasing frequency as an alternative to

Fully Decomposable Split Graphs

NASA Astrophysics Data System (ADS)

Broersma, Hajo; Kratsch, Dieter; Woeginger, Gerhard J.

We discuss various questions around partitioning a split graph into connected parts. Our main result is a polynomial time algorithm that decides whether a given split graph is fully decomposable, i.e., whether it can be partitioned into connected parts of order α 1,α 2,...,α k for every α 1,α 2,...,α k summing up to the order of the graph. In contrast, we show that the decision problem whether a given split graph can be partitioned into connected parts of order α 1,α 2,...,α k for a given partition α 1,α 2,...,α k of the order of the graph, is NP-hard.

[Discussion of new classification of epididymal malformation in cryptorchidism of children].

PubMed

Zhang, Dian-Liang; Li, Zhen; Xie, Jia-Lun

2002-12-01

To discuss the new classification of epididymal malformation in cryptorchidism. One hundred and fifty-three boys who were two to four year old underwent orchidopexy for cryptorchidism and 144 hydroceles who were two to eight year old were enrolled into control. Based on the observation of the status between testis and epididymia, the length of epididymis and the configuration of epididymis as well as spermaduct, we divided epididymal malformations in cryptorchidism into three types. Type I: obstruction of sperm transport, including I A, I B and I C; Type II: possible obstruction of sperm transport, defined by II A and II B; Type III: no obstruction of sperm transport, classified into III A and III B. There were 47 (23.4%) out of 201 undescended testes with malformation of epididymides and 16 (10.3%) out of 155 testes in the control(P < 0.05). 11 of 48 cases of bilateral cryptorchidism had the same malformations, with 2 cases of type IB, 2 of IC, 1 of II A, 4 of III A and 2 of IV B underwent orchidopexy or orchiectomy. These data showed that the incidence of epididymal abnormalities in cryptorchidism was higher than that in the hydroceles and it's not essential to have orchiectomy unlimitedly to serious epididymal abnormalities.

Cranial Nerve Palsy after Onyx Embolization as a Treatment for Cerebral Vascular Malformation

PubMed Central

Lee, Jong Min; Whang, Kum; Cho, Sung Min; Kim, Jong Yeon; Oh, Ji Woong; Koo, Youn Moo; Hu, Chul; Pyen, Jinsoo

2017-01-01

The Onyx liquid embolic system is a relatively safe and commonly used treatment for vascular malformations, such as arteriovenous fistulas and arteriovenous malformations. However, studies on possible complications after Onyx embolization in patients with vascular malformations are limited, and the occurrence of cranial nerve palsy is occasionally reported. Here we report the progress of two different types of cranial nerve palsy that can occur after embolization. In both cases, Onyx embolization was performed to treat vascular malformations and ipsilateral oculomotor and facial nerve palsies were observed. Both patients were treated with steroids and exhibited symptom improvement after several months. The most common types of neuropathy that can occur after Onyx embolization are facial nerve palsy and trigeminal neuralgia. Although the mechanisms underlying these neuropathies are not clear, they may involve traction injuries sustained while extracting the microcatheter, mass effects resulting from thrombi and edema, or Onyx reflux into the vasa nervorum. In most cases, the neuropathy spontaneously resolves several months following the procedure. PMID:29159152

Cranial Nerve Palsy after Onyx Embolization as a Treatment for Cerebral Vascular Malformation.

PubMed

Lee, Jong Min; Whang, Kum; Cho, Sung Min; Kim, Jong Yeon; Oh, Ji Woong; Koo, Youn Moo; Hu, Chul; Pyen, Jinsoo; Choi, Jong Wook

2017-09-01

The Onyx liquid embolic system is a relatively safe and commonly used treatment for vascular malformations, such as arteriovenous fistulas and arteriovenous malformations. However, studies on possible complications after Onyx embolization in patients with vascular malformations are limited, and the occurrence of cranial nerve palsy is occasionally reported. Here we report the progress of two different types of cranial nerve palsy that can occur after embolization. In both cases, Onyx embolization was performed to treat vascular malformations and ipsilateral oculomotor and facial nerve palsies were observed. Both patients were treated with steroids and exhibited symptom improvement after several months. The most common types of neuropathy that can occur after Onyx embolization are facial nerve palsy and trigeminal neuralgia. Although the mechanisms underlying these neuropathies are not clear, they may involve traction injuries sustained while extracting the microcatheter, mass effects resulting from thrombi and edema, or Onyx reflux into the vasa nervorum. In most cases, the neuropathy spontaneously resolves several months following the procedure.

[The metabolic profilings study of serum and spinal cord from acute spinal cord injury rats ¹H NMR spectroscopy].

PubMed

Hu, Hua-Hui; Huang, Xiao-Long; Quan, Ren-Fu; Yang, Zong-Bao; Xu, Jing-Jing

2017-02-25

To establish the rat model of acute spinal cord injury, followed by aprimary study on this model with ¹H NMR based on metabonomics and to explore the metabonomics and biomarkers of spinal cord injury rat. Twenty eight-week-old adult male SD rats of clean grade, with body weight of (200±10) g, were divided into sham operation group and model group in accordance with the law of random numbers, and every group had 10 rats. The rats of sham operation group were operated without damaging the spinal cord, and rats of model group were made an animal model of spinal cord incomplete injury according to the modified Allen's method. According to BBB score to observate the motor function of rats on the 1th, 5th, and 7th days after surgery. Postoperative spinal cord tissue was collected in order to pathologic observation at the 7th day, and the metabolic profilings of serum and spinal cord from spinal cord injury rats were studied by ¹H NMR spectroscopy. The hindlimb motion of rats did not obviously change in sham operation group, there was no significant difference at each time point;and rats of model group occurred flaccid paralysis of both lower extremities, there was a significant difference at each time; there was significant differences between two groups at each time. Pathological results showed the spinal cord structure was normal with uniform innervation in shame group, while in model group, the spinal cord structure was mussy, and the neurons were decreased, with inflammatory cells and necrotic tissue. Analysis of metabonomics showed that concentration of very low density fat protein (VLDL), low density fat protein (LDL), glutamine, citric acid, dimethylglycine (DMG) in the serum and glutathione, 3-OH-butyrate, N-Acetyl-L-aspartic acid (NAA), glycerophosphocholine (GPC), glutamic acid, and ascorbate in spinal cord had significant changes( P <0.05). There are significant differences in metabolic profile from serum and spinal cord sample between model group and sham

Parasite (Ribeiroia ondatrae) infection linked to amphibian malformations in the western United States

USGS Publications Warehouse

Johnson, P.T.J.; Lunde, K.B.; Thurman, E.M.; Ritchie, E.G.; Wray, S.N.; Sutherland, D.R.; Kapfer, J.M.; Frest, T.J.; Bowerman, J.; Blaustein, A.R.

2002-01-01

Parasites and pathogens can influence the survivorship, behavior, and very structure of their host species. For example, experimental studies have shown that trematode parasites can cause high frequencies of severe limb malformations in amphibians. In a broad-scale field survey covering parts of California, Oregon, Washington, Idaho, and Montana, we examined relationships between the frequency and types of morphological abnormalities in amphibians and the abundance of trematode parasite infection, pH, concentrations of 61 pesticides, and levels of orthophosphate and total nitrate. We recorded severe malformations at frequencies ranging from 1% to 90% in nine amphibian species from 53 aquatic systems. Infection of larvae by the trematode Ribeiroia ondatrae was associated with, and functionally related to, higher frequencies of amphibian limb malformations than found in uninfected populations (≤5%). Parasites were concentrated around the basal tissue of hind limbs in infected anurans, and malformations associated with infection included skin webbings, supernumerary limbs and digits, and missing or malformed hind limbs. In the absence of Ribeiroia, amphibian populations exhibited low (0-5%) frequencies of abnormalities involving missing digits or distal portions of a hind limb. Species were affected differentially by the parasite, and Ambystoma macrodactylum, Hyla regilla, Rand aurora, R. luteiventris, and Taricha torosa typically exhibited the highest frequencies of abnormalities. None of the water-quality variables measured was associated with malformed amphibians, but aquatic snail hosts (Planorbella spp.) were significant predictors of the presence and abundance of Ribeiroia infection. Morphological comparisons of adult specimens of Ribeiroia collected from different sites and raised in experimental definitive hosts suggested that all samples represented the same species - R. ondatrae. These field results, coupled with experimental research on the effects of

7 CFR 51.2002 - Split shell.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 7 Agriculture 2 2011-01-01 2011-01-01 false Split shell. 51.2002 Section 51.2002 Agriculture... Standards for Grades of Filberts in the Shell 1 Definitions § 51.2002 Split shell. Split shell means a shell... of the shell, measured in the direction of the crack. ...

7 CFR 51.2002 - Split shell.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 7 Agriculture 2 2010-01-01 2010-01-01 false Split shell. 51.2002 Section 51.2002 Agriculture... Standards for Grades of Filberts in the Shell 1 Definitions § 51.2002 Split shell. Split shell means a shell... of the shell, measured in the direction of the crack. ...

Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

PubMed

Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

2015-12-01

Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

The possible association between exposure to air pollution and the risk for congenital malformations.

PubMed

Farhi, Adel; Boyko, Valentina; Almagor, Jonatan; Benenson, Itzhak; Segre, Enrico; Rudich, Yinon; Stern, Eli; Lerner-Geva, Liat

2014-11-01

Over the last decade, there is growing evidence that exposure to air pollution may be associated with increased risk for congenital malformations. To evaluate the possible association between exposures to air pollution during pregnancy and congenital malformations among infants born following spontaneously conceived (SC) pregnancies and assisted reproductive technology (ART) pregnancies. This is an historical cohort study comprising 216,730 infants: 207,825 SC infants and 8905 ART conceived infants, during the periods 1997-2004. Air pollution data including sulfur dioxide (SO2), particulate matter <10 µm (PM10), nitrogen oxides (NOx) and ozone (O3) were obtained from air monitoring stations database for the study period. Using a geographic information system (GIS) and the Kriging procedure, exposure to air pollution during the first trimester and the entire pregnancy was assessed for each woman according to her residential location. Logistic regression models with generalized estimating equation (GEE) approach were used to evaluate the adjusted risk for congenital malformations. In the study cohort increased concentrations of PM10 and NOx pollutants in the entire pregnancy were associated with slightly increased risk for congenital malformations: OR 1.06(95% CI, 1.01-1.11) for 10 µg/m(3) increase in PM10 and OR 1.03(95% CI, 1.01-1.04) for 10 ppb increase in NOx. Specific malformations were evident in the circulatory system (for PM10 and NOx exposure) and genital organs (for NOx exposure). SO2 and O3 pollutants were not significantly associated with increased risk for congenital malformations. In the ART group higher concentrations of SO2 and O3 in entire pregnancy were associated (although not significantly) with an increased risk for congenital malformations: OR 1.06(95% CI, 0.96-1.17) for 1 ppb increase in SO2 and OR 1.15(95% CI, 0.69-1.91) for 10 ppb increase in O3. Exposure to higher levels of PM10 and NOx during pregnancy was associated with an increased

Acute porphyria in a patient with Arnold Chiari malformation.

PubMed

Shen, Jianbin; O'Keefe, Kevin; Webb, Lisa B; DeGirolamo, Angela

2015-02-20

Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association.

Umbilical cord blood for unrelated bone marrow replacement; Asia bank and Japan cord blood bank network update.

PubMed

Mugishima, Hideo; Takahashi, Tuneo; Nagamura, Tokiko; Asano, Sigetaka; Saito, Hidehiko

2002-08-01

Cord blood offers many advantages including a high concentration of hematopoietic stem cells, a large number of potential donors, and ease of harvest. Furthermore, since there is no risk for either the mother or baby, few people refuse to donate. There is thought to be a low risk for virus contamination and also probably a low incidence and severity of GVHD. Cord blood can be obtained quickly without the assistance of a coordinator and one or 2 locus-mismatched HLA is usually acceptable. In Japan, there are 10 cord blood banks supported by the government. Between 1996 and June 2002, 9,500 units were registered with the Japan cord blood bank network (JCBBN). 630 units were delivered and most of these were transplanted. The status of registered cord blood units worldwide is shown. 59,081 units have been registered by NETCORD. The Japan cord blood bank network accounts for 13% of these units. I will discuss the Tokyo cord blood tank (TCBB). The bank at Tokyo, to which we belong, is one of the largest banks in Japan. We helped to establish Asia CORD in 2000 and have held annual conferences and meetings in Tokyo to exchange information. So far, China, Korea, Taiwan, Thailand, Viet Nam and Japan have participated. We accepted three trainees from the Ho Chi Minh City Blood Transfusion and Hematology Center for training in cord blood transplantation in May 2001. In January 2002, a patient with ALL received cord blood and was successfully engrafted at Ho Chi Minh City Blood Transfusion and Hematology Center. We present here the clinical outcome of these patients through Tokyo cord blood bank and Japan cord blood bank network. First, the number of CB units stored and registered at JCBBN and TCBB has increased rapidly over the past two years. Second, the survival rate of acute leukemia patients in release was significantly lower than that in patients in CR. Third, the engraftment rate in patients with metabolic disease (50%) was lower than that in patients with leukemia

Cool covered sky-splitting spectrum-splitting FK

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mohedano, Rubén; Chaves, Julio; Falicoff, Waqidi

2014-09-26

Placing a plane mirror between the primary lens and the receiver in a Fresnel Köhler (FK) concentrator gives birth to a quite different CPV system where all the high-tech components sit on a common plane, that of the primary lens panels. The idea enables not only a thinner device (a half of the original) but also a low cost 1-step manufacturing process for the optics, automatic alignment of primary and secondary lenses, and cell/wiring protection. The concept is also compatible with two different techniques to increase the module efficiency: spectrum splitting between a 3J and a BPC Silicon cell formore » better usage of Direct Normal Irradiance DNI, and sky splitting to harvest the energy of the diffuse radiation and higher energy production throughout the year. Simple calculations forecast the module would convert 45% of the DNI into electricity.« less

Annual trends in use of periconceptional folic acid and birth prevalence of major congenital malformations.

PubMed

Richard-Tremblay, Audrey-Ann; Sheehy, Odile; Bérard, Anick

2013-07-01

Recent evidence suggests that periconceptional folic acid use could not only prevent neural tube defects but also other malformations. The objectives of this study were to assess trends in dispensed high dose periconceptional folic acid (5 mg) and birth prevalence of major congenital malformations. The Quebec Pregnancy Registry, an administrative database with information on periconceptional prescribed medication and diagnostic codes was used to conduct this study. All pregnant women insured by the Quebec public drug plan between January 1(st) 1998 and December 31(st) 2008 were included. The exposure was defined as the use of high dose periconceptional folic acid 30 days before, and during the first 70 days of pregnancy. The outcome measured was the birth prevalence of major congenital malformations among live births. We identified 152,392 pregnancies and babies. The annual prevalence of high dose periconceptional folic acid use increased from 0.17% to 0.80% (p<0.05) during the study period; birth prevalence of congenital malformations increased by 15% (3.35% to 3.87%, p<0.05). More specifically, a 23% increase in the prevalence of cardiac malformation and 23% increase in musculoskeletal defects were observed, whereas there was no change in the prevalence of malformations of the nervous system. Although there was an increase in the use of periconceptional high dose folic acid over the past decade, there was no decrease in the prevalence of major congenital malformations. A limitation of this study is the absence of data on low dose folic acid use, available over the counter, in our administrative database.

Cellular Scaling Rules for Primate Spinal Cords

PubMed Central

Burish, Mark J.; Peebles, J. Klint; Baldwin, Mary K.; Tavares, Luciano; Kaas, Jon H.; Herculano-Houzel, Suzana

2010-01-01

The spinal cord can be considered a major sensorimotor interface between the body and the brain. How does the spinal cord scale with body and brain mass, and how are its numbers of neurons related to the number of neurons in the brain across species of different body and brain sizes? Here we determine the cellular composition of the spinal cord in eight primate species and find that its number of neurons varies as a linear function of cord length, and accompanies body mass raised to an exponent close to 1/3. This relationship suggests that the extension, mass and number of neurons that compose the spinal cord are related to body length, rather than to body mass or surface. Moreover, we show that although brain mass increases linearly with cord mass, the number of neurons in the brain increases with the number of neurons in the spinal cord raised to the power of 1.7. This faster addition of neurons to the brain than to the spinal cord is consistent with current views on how larger brains add complexity to the processing of environmental and somatic information. PMID:20926855

Separating the Laparoscopic Camera Cord From the Monopolar "Bovie" Cord Reduces Unintended Thermal Injury From Antenna Coupling: A Randomized Controlled Trial.

PubMed

Robinson, Thomas N; Jones, Edward L; Dunn, Christina L; Dunne, Bruce; Johnson, Elizabeth; Townsend, Nicole T; Paniccia, Alessandro; Stiegmann, Greg V

2015-06-01

The monopolar "Bovie" is used in virtually every laparoscopic operation. The active electrode and its cord emit radiofrequency energy that couples (or transfers) to nearby conductive material without direct contact. This phenomenon is increased when the active electrode cord is oriented parallel to another wire/cord. The parallel orientation of the "Bovie" and laparoscopic camera cords cause transfer of energy to the camera cord resulting in cutaneous burns at the camera trocar incision. We hypothesized that separating the active electrode/camera cords would reduce thermal injury occurring at the camera trocar incision in comparison to parallel oriented active electrode/camera cords. In this prospective, blinded, randomized controlled trial, patients undergoing standardized laparoscopic cholecystectomy were randomized to separated active electrode/camera cords or parallel oriented active electrode/camera cords. The primary outcome variable was thermal injury determined by histology from skin biopsied at the camera trocar incision. Eighty-four patients participated. Baseline demographics were similar in the groups for age, sex, preoperative diagnosis, operative time, and blood loss. Thermal injury at the camera trocar incision was lower in the separated versus parallel group (31% vs 57%; P = 0.027). Separation of the laparoscopic camera cord from the active electrode cord decreases thermal injury from antenna coupling at the camera trocar incision in comparison to the parallel orientation of these cords. Therefore, parallel orientation of these cords (an arrangement promoted by integrated operating rooms) should be abandoned. The findings of this study should influence the operating room setup for all laparoscopic cases.

Hemifacial spasm associated with type 1 Chiari malformation: a retrospective study of 13 cases.

PubMed

Li, Ning; Zhao, Wei-Guo; Pu, Chun-Hua; Yang, Wen-Lei

2017-04-01

Hemifacial spasm (HFS) associated with type 1 Chiari malformation is particularly uncommon and is limited to isolated case report. The aims of this study were to report the clinical correlates of patients who had simultaneously HFS and type 1 Chiari malformation and to present the outcome of these patients treated with microvascular decompression (MVD) surgery. We retrospectively evaluated 13 patients who had simultaneously HFS and type 1 Chiari malformation among 675 HFS patients. Clinical features and radiological findings were collected from each patient and analyzed. All these 13 patients were surgically treated with MVD through retro-mastoid microsurgical approach, and postoperative outcomes were evaluated. A review of literature about this association was also provided. In this study, the frequency of type 1 Chiari malformation in HFS patients was 1.9 %. The clinical profile of this series of patients did not differ from typical form of primary HFS. MVD achieved satisfactory results in 11 patients (85 %) in short- and long-term follow-up. There was no mortality or severe complication occurred postoperatively. Although rare, clinician should be aware of the association of HFS and type 1 Chiari malformation and consider MVD as an effective surgical management.

10 CFR 26.135 - Split specimens.

Code of Federal Regulations, 2011 CFR

2011-01-01

... 10 Energy 1 2011-01-01 2011-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee testing...

10 CFR 26.135 - Split specimens.

Code of Federal Regulations, 2010 CFR

2010-01-01

... 10 Energy 1 2010-01-01 2010-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee testing...

10 CFR 26.135 - Split specimens.

Code of Federal Regulations, 2013 CFR

2013-01-01

... 10 Energy 1 2013-01-01 2013-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee testing...

10 CFR 26.135 - Split specimens.

Code of Federal Regulations, 2014 CFR

2014-01-01

... 10 Energy 1 2014-01-01 2014-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee testing...

10 CFR 26.135 - Split specimens.

Code of Federal Regulations, 2012 CFR

2012-01-01

... 10 Energy 1 2012-01-01 2012-01-01 false Split specimens. 26.135 Section 26.135 Energy NUCLEAR REGULATORY COMMISSION FITNESS FOR DUTY PROGRAMS Licensee Testing Facilities § 26.135 Split specimens. (a) If the FFD program follows split-specimen procedures, as described in § 26.113, the licensee testing...

[Characteristics of pregnancy and delivery of fetuses affected by either central nervous system malformations or chromosomal abnormalities].

PubMed

Friedler, Jordana Mashiach; Mazor, Moshe; Shoham-Vardi, Ilana; Bashiri, Asher

2011-11-01

To determine whether fetuses affected by either chromosomal abnormalities or central nervous system (CNS) malformations are prone to complications during pregnancy and delivery. In this study, 320 singleton pregnancies with CNS malformations and 133 singleton pregnancies with chromosomal abnormaLities were compared with 149,112 singleton births without any known congenital anomalies. Exclusion criteria were: births with other congenital anomalies or malformations, pregnancies Lacking prenatal care and multiple pregnancies. Data was obtained using the computerized birth discharge records. The statistical analysis was performed with the SPSS package. There were no statistically significant differences in maternal age, ethnicity, uterine anomalies or parity. The ratio of general anesthesia was almost double in the study groups compared to the control group: 25% in the CNS malformation group (RR 2.617, CI 2.031-3.372) and 25.6% in the chromosomal abnormality group (RR 2.696, CI 1.825-3.982) and 11.3% in the control group (p < 0.001). There were nearly double cesarean sections (CS) rates in both study groups: 21.5% in the CNS malformation group, 20.3% in the chromosomal abnormaLity group and 12% in the control group. A logistic regression model that included previous CS, maLpresentation, non-reassuring fetal heart monitor (NRFHR) and presence of a malformation, concluded that the presence of a malformation was not an independent risk factor for CS. However, indirect causes, such as malpresentation (4.34 OR), were independently associated with the malformations. Fetuses affected by either CNS malformations or chromosomal abnormalities have a higher rate of pregnancy and delivery complications, including those which increase the risk of maternal morbidity and mortality.

Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

DOE Office of Scientific and Technical Information (OSTI.GOV)

McCafferty, Ian, E-mail: ian.mccafferty@uhb.nhs.uk

This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

Stem cell transplantation (cord blood transplants).

PubMed

Chao, Nelson J; Emerson, Stephen G; Weinberg, Kenneth I

2004-01-01

Allogeneic stem cell transplantation is an accepted treatment modality for selected malignant and non-malignant diseases. However, the ability to identify suitably matched related or unrelated donors can be difficult in some patients. Alternative sources of stem cells such as cord blood provide a readily available graft for such patients. Data accumulated over the past several years have demonstrated that the use of cord blood is an accepted source of stem cells for pediatric patients. Since the cell numbers of hematopoietic progenitors in cord blood is limited and the collection can occur only in a single occasion, its use in adult patients can be more problematic. Here, new developments in the use of cord blood for adults and studies aimed at expansion of cord blood cells and immune reconstitution are described. In Section I, Dr. Nelson Chao describes the early data in cord blood transplantation in adult patients. The patient outcomes are reviewed and analyzed for various factors such as cell dose, HLA typing, and patient selection that could have contributed to the final outcome of these adult patients. Myeloablative as well as nonmyeloablative approaches are presented. Discussion of the various benefits and risks are presented. More recent data from multiple single institutions as well as larger registry data comparisons are also provided. Analyses of these studies suggest methods to improve on the outcome. These newer data should lead to a logical progression in the use of cord blood cells in adult patients. In Section II, Dr. Stephen Emerson describes the historical efforts associated with expansion of hematopoietic stem cells, specifically with cord blood cells. These efforts to expand cord blood cells continue with novel methods. Moreover, a better understanding of stem cell biology and signaling is critical if we are to be able to effectively expand these cells for clinical use. An alternative, more direct, approach to expanding stem cells could be

Variable-Tension-Cord Suspension/Vibration-Isolation System

NASA Technical Reports Server (NTRS)

Villemarette, Mark L.; Boston, Joshua; RInks, Judith; Felice, Pat; Stein, Tim; Payne, Patrick

2006-01-01

A system for mechanical suspension and vibration isolation of a machine or instrument is based on the use of Kevlar (or equivalent aromatic polyamide) cord held in variable tension between the machine or instrument and a surrounding frame. The basic concept of such a tensioned-cord suspension system (including one in which the cords are made of aromatic polyamide fibers) is not new by itself; what is new here is the additional provision for adjusting the tension during operation to optimize vibration- isolation properties. In the original application for which this system was conceived, the objective is to suspend a reciprocating cryocooler aboard a space shuttle and to prevent both (1) transmission of launch vibrations to the cryocooler and (2) transmission of vibrations from the cryocooler to samples in a chamber cooled by the cryocooler. The basic mechanical principle of this system can also be expected to be applicable to a variety of other systems in which there are requirements for cord suspension and vibration isolation. The reciprocating cryocooler of the original application is a generally axisymmetric object, and the surrounding frame is a generally axisymmetric object with windows (see figure). Two cords are threaded into a spoke-like pattern between attachment rings on the cryocooler, holes in the cage, and cord-tension- adjusting assemblies. Initially, the cord tensions are adjusted to at least the level necessary to suspend the cryocooler against gravitation. Accelerometers for measuring vibrations are mounted (1) on the cold tip of the cryocooler and (2) adjacent to the cage, on a structure that supports the cage. During operation, a technician observes the accelerometer outputs on an oscilloscope while manually adjusting the cord tensions in an effort to minimize the amount of vibration transmitted to and/or from the cryocooler. A contemplated future version of the system would include a microprocessor-based control subsystem that would include cord

Umbilical cord cell banking-implications for the future

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gunning, Jennifer

2005-09-01

The first successful cord cell transplant to a sibling with Fanconi's anaemia took place 15 years ago. This proven utility of cord blood led to the establishment of cord blood banks both private and public and there are now nearly 100 cord blood banks worldwide. It is estimated that over 200,000 cord blood units (CBU) are held by the private sector and over 160,000 CBU are registered with the largest public cord blood registry. There is a tension between private cord blood banks, which store CBU for autologous or family use, and public banks, which store CBU for unrelated usemore » and the ethics of private cord blood storage has been questioned. But more general ethical questions also arise regarding ownership, consent, confidentiality, costs and quality standards and patenting. In looking at these ethical issues one also needs to look at potential future use of cord blood stem cells. Up until now cord cells have principally been used in the treatment of paediatric blood and immune disorders. Improvements in cell expansion technology will make CBU more appropriate also for treating adults with such disorders. However, it has also been demonstrated that cord blood stem cells have the capacity to differentiate into other types of cells, neuronal, bone, epithelial and muscle which would have a future role to play in cell therapy and regenerative medicine.« less

Split spline screw

NASA Technical Reports Server (NTRS)

Vranish, John M. (Inventor)

1993-01-01

A split spline screw type payload fastener assembly, including three identical male and female type split spline sections, is discussed. The male spline sections are formed on the head of a male type spline driver. Each of the split male type spline sections has an outwardly projecting load baring segment including a convex upper surface which is adapted to engage a complementary concave surface of a female spline receptor in the form of a hollow bolt head. Additionally, the male spline section also includes a horizontal spline releasing segment and a spline tightening segment below each load bearing segment. The spline tightening segment consists of a vertical web of constant thickness. The web has at least one flat vertical wall surface which is designed to contact a generally flat vertically extending wall surface tab of the bolt head. Mutual interlocking and unlocking of the male and female splines results upon clockwise and counter clockwise turning of the driver element.

[Expansive suboccipital cranioplasty in Chiari 1 malformation (a case report and technical notes)].

PubMed

Korshunov, A E; Kushel', Yu V

In this case report, we describe the use of expansive suboccipital cranioplasty in Chiari-1 malformation. The technique improves the efficacy and safety of treatment for Chiari-1 malformation. The technique can be used as an adjunct treatment together with any variant of posterior fossa decompression, including duroplasty and extradural decompression.

Vibrational quenching of excitonic splittings in H-bonded molecular dimers: The electronic Davydov splittings cannot match experiment

NASA Astrophysics Data System (ADS)

Ottiger, Philipp; Leutwyler, Samuel; Köppel, Horst

2012-05-01

The S1/S2 state exciton splittings of symmetric doubly hydrogen-bonded gas-phase dimers provide spectroscopic benchmarks for the excited-state electronic couplings between UV chromophores. These have important implications for electronic energy transfer in multichromophoric systems ranging from photosynthetic light-harvesting antennae to photosynthetic reaction centers, conjugated polymers, molecular crystals, and nucleic acids. We provide laser spectroscopic data on the S1/S2 excitonic splitting Δexp of the doubly H-bonded o-cyanophenol (oCP) dimer and compare to the splittings of the dimers of (2-aminopyridine)2, [(2AP)2], (2-pyridone)2, [(2PY)2], (benzoic acid)2, [(BZA)2], and (benzonitrile)2, [(BN)2]. The experimental S1/S2 excitonic splittings are Δexp = 16.4 cm-1 for (oCP)2, 11.5 cm-1 for (2AP)2, 43.5 cm-1 for (2PY)2, and <1 cm-1 for (BZA)2. In contrast, the vertical S1/S2 energy gaps Δcalc calculated by the approximate second-order coupled cluster (CC2) method for the same dimers are 10-40 times larger than the Δexp values. The qualitative failure of this and other ab initio methods to reproduce the exciton splitting Δexp arises from the Born-Oppenheimer (BO) approximation, which implicitly assumes the strong-coupling case and cannot be employed to evaluate excitonic splittings of systems that are in the weak-coupling limit. Given typical H-bond distances and oscillator strengths, the majority of H-bonded dimers lie in the weak-coupling limit. In this case, the monomer electronic-vibrational coupling upon electronic excitation must be accounted for; the excitonic splittings arise between the vibronic (and not the electronic) transitions. The discrepancy between the BO-based splittings Δcalc and the much smaller experimental Δexp values is resolved by taking into account the quenching of the BO splitting by the intramolecular vibronic coupling in the monomer S1 ← S0 excitation. The vibrational quenching factors Γ for the five dimers (oCP)2, (2AP)2

Lung Ultrasound Findings in Congenital Pulmonary Airway Malformation.

PubMed

Yousef, Nadya; Mokhtari, Mostafa; Durand, Philippe; Raimondi, Francesco; Migliaro, Fiorella; Letourneau, Alexandra; Tissières, Pierre; De Luca, Daniele

2018-05-01

 Congenital pulmonary airway malformation (CPAM) is a group of rare congenital malformations of the lung and airways. Lung ultrasound (LU) is increasingly used to diagnose neonatal respiratory diseases since it is quick, easy to learn, and radiation-free, but no formal data exist for congenital lung malformations. We aimed to describe LU findings in CPAM neonates needing neonatal intensive care unit (NICU) admission and to compare them with a control population.  A retrospective review of CPAM cases from three tertiary academic NICUs over 3 years (2014-2016) identified five patients with CPAM who had undergone LU examination. LU was compared with chest radiograms and computed tomography (CT) scans that were used as references.  CPAM lesions were easily identified and corresponded well with CT scans; they varied from a single large cystic lesion, multiple hypoechoic lesions, and/or consolidation. The first two LU findings have not been described in other respiratory conditions and were not found in controls.  We provide the first description of LU findings in neonates with CPAM. LU may be used to confirm antenatally diagnosed CPAM and to suspect CPAM in infants with respiratory distress if cystic lung lesions are revealed. Further studies are necessary to define the place of LU in the management of CPAM. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Classification of Newborn Ear Malformations and their Treatment with the EarWell Infant Ear Correction System.

PubMed

Daniali, Lily N; Rezzadeh, Kameron; Shell, Cheryl; Trovato, Matthew; Ha, Richard; Byrd, H Steve

2017-03-01

A single practice's treatment protocol and outcomes following molding therapy on newborn ear deformations and malformations with the EarWell Infant Ear Correction System were reviewed. A classification system for grading the severity of constricted ear malformations was created on the basis of anatomical findings. A retrospective chart/photograph review of a consecutive series of infants treated with the EarWell System from 2011 to 2014 was undertaken. The infants were placed in either deformation or malformation groups. Three classes of malformation were identified. Data regarding treatment induction, duration of treatment, and quality of outcome were collected for all study patients. One hundred seventy-five infant ear malformations and 303 infant ear deformities were treated with the EarWell System. The average age at initiation of treatment was 12 days; the mean duration of treatment was 37 days. An average of six office visits was required. Treated malformations included constricted ears [172 ears (98 percent)] and cryptotia [three ears (2 percent)]. Cup ear (34 ears) was considered a constricted malformation, in contrast to the prominent ear deformity. Constricted ears were assigned to one of three classes, with each subsequent class indicating increasing severity: class I, 77 ears (45 percent); class II, 81 ears (47 percent); and class III, 14 ears (8 percent). Molding therapy with the EarWell System reduced the severity by an average of 1.2 points (p < 0.01). Complications included minor superficial excoriations and abrasions. The EarWell System was shown to be effective in eliminating or reducing the need for surgery in all but the most severe malformations. Therapeutic, IV.

Outcome of excision of megarectum in children with anorectal malformation.

PubMed

Keshtgar, Alireza S; Ward, Harry C; Richards, Catherine; Clayden, Graham S

2007-01-01

Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome. We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores. Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean. Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal

Operative management of brainstem cavernous malformations.

PubMed

Asaad, Wael F; Walcott, Brian P; Nahed, Brian V; Ogilvy, Christopher S

2010-09-01

Brainstem cavernous malformations (CMs) are complex lesions associated with hemorrhage and neurological deficit. In this review, the authors describe the anatomical nuances relating to the operative techniques for these challenging lesions. The resection of brainstem CMs in properly selected patients has been demonstrated to reduce the risk of rehemorrhage and can be achieved relatively safely in experienced hands.

Family-directed umbilical cord blood banking

PubMed Central

Gluckman, Eliane; Ruggeri, Annalisa; Rocha, Vanderson; Baudoux, Etienne; Boo, Michael; Kurtzberg, Joanne; Welte, Kathy; Navarrete, Cristina; van Walraven, Suzanna M.

2011-01-01

Umbilical cord blood transplantation from HLA-identical siblings provides good results in children. These results support targeted efforts to bank family cord blood units that can be used for a sibling diagnosed with a disease which can be cured by allogeneic hematopoietic stem cell transplantation or for research that investigates the use of allogeneic or autologous cord blood cells. Over 500 patients transplanted with related cord blood units have been reported to the Eurocord registry with a 4-year overall survival of 91% for patients with non-malignant diseases and 56% for patients with malignant diseases. Main hematologic indications in children are leukemia, hemoglobinopathies or inherited hematologic, immunological or metabolic disorders. However, family-directed cord blood banking is not widely promoted; many cord blood units used in sibling transplantation have been obtained from private banks that do not meet the necessary criteria required to store these units. Marketing by private banks who predominantly store autologous cord blood units has created public confusion. There are very few current validated indications for autologous storage but some new indications might appear in the future. Little effort is devoted to provide unbiased information and to educate the public as to the distinction between the different types of banking, economic models and standards involved in such programs. In order to provide a better service for families in need, directed-family cord blood banking activities should be encouraged and closely monitored with common standards, and better information on current and future indications should be made available. PMID:21750089

Family-directed umbilical cord blood banking.

PubMed

Gluckman, Eliane; Ruggeri, Annalisa; Rocha, Vanderson; Baudoux, Etienne; Boo, Michael; Kurtzberg, Joanne; Welte, Kathy; Navarrete, Cristina; van Walraven, Suzanna M

2011-11-01

Umbilical cord blood transplantation from HLA-identical siblings provides good results in children. These results support targeted efforts to bank family cord blood units that can be used for a sibling diagnosed with a disease which can be cured by allogeneic hematopoietic stem cell transplantation or for research that investigates the use of allogeneic or autologous cord blood cells. Over 500 patients transplanted with related cord blood units have been reported to the Eurocord registry with a 4-year overall survival of 91% for patients with non-malignant diseases and 56% for patients with malignant diseases. Main hematologic indications in children are leukemia, hemoglobinopathies or inherited hematologic, immunological or metabolic disorders. However, family-directed cord blood banking is not widely promoted; many cord blood units used in sibling transplantation have been obtained from private banks that do not meet the necessary criteria required to store these units. Marketing by private banks who predominantly store autologous cord blood units has created public confusion. There are very few current validated indications for autologous storage but some new indications might appear in the future. Little effort is devoted to provide unbiased information and to educate the public as to the distinction between the different types of banking, economic models and standards involved in such programs. In order to provide a better service for families in need, directed-family cord blood banking activities should be encouraged and closely monitored with common standards, and better information on current and future indications should be made available.

First evidence of ethylene production by Fusarium mangiferae associated with mango malformation

PubMed Central

Ansari, Mohammad Wahid; Shukla, Alok; Pant, Ramesh Chandra; Tuteja, Narendra

2013-01-01

Malformation is arguably the most crucial disease of mango (Mangifera indica L.) at present. It is receiving great attention not only because of its widespread and destructive nature but also because of its etiology and control is not absolutely understood. Recently, Fusarium mangiferae is found to be associated with mango malformation disease. There are indications that stress ethylene production could be involved in the disease. Here we have shown the first direct evidence of production of ethylene in pure culture of F. mangiferae obtained from mango. The study also revealed that all the isolates dissected from mango acquire morphological features of F. mangiferae showing most similarity to the features of species with accepted standard features. The isolates of F. mangiferae from mango were observed to produce ethylene in significant amounts, ranging from 9.28–13.66 n mol/g dry wt/day. The findings presented here suggest that F. mangiferae could contribute to the malformation of mango by producing ethylene and probably stimulating stress ethylene production in malformed tissue of mango. Ethylene might be produced through 2-oxoglutarate-dependent oxygenase-type ethylene-forming-enzyme (EFE) pathway in Fusarium sp, which needs to be investigated. PMID:23221756

First evidence of ethylene production by Fusarium mangiferae associated with mango malformation.

PubMed

Ansari, Mohammad Wahid; Shukla, Alok; Pant, Ramesh Chandra; Tuteja, Narendra

2013-01-01

Malformation is arguably the most crucial disease of mango (Mangifera indica L.) at present. It is receiving great attention not only because of its widespread and destructive nature but also because of its etiology and control is not absolutely understood. Recently, Fusarium mangiferae is found to be associated with mango malformation disease. There are indications that stress ethylene production could be involved in the disease. Here we have shown the first direct evidence of production of ethylene in pure culture of F. mangiferae obtained from mango. The study also revealed that all the isolates dissected from mango acquire morphological features of F. mangiferae showing most similarity to the features of species with accepted standard features. The isolates of F. mangiferae from mango were observed to produce ethylene in significant amounts, ranging from 9.28-13.66 n mol/g dry wt/day. The findings presented here suggest that F. mangiferae could contribute to the malformation of mango by producing ethylene and probably stimulating stress ethylene production in malformed tissue of mango. Ethylene might be produced through 2-oxoglutarate-dependent oxygenase-type ethylene-forming-enzyme (EFE) pathway in Fusarium sp, which needs to be investigated.

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations.

PubMed

Holschneider, Alexander; Hutson, John; Peña, Albert; Beket, Elhamy; Chatterjee, Subir; Coran, Arnold; Davies, Michael; Georgeson, Keith; Grosfeld, Jay; Gupta, Devendra; Iwai, Naomi; Kluth, Dieter; Martucciello, Giuseppe; Moore, Samuel; Rintala, Risto; Smith, E Durham; Sripathi, D V; Stephens, Douglas; Sen, Sudipta; Ure, Benno; Grasshoff, Sabine; Boemers, Thomas; Murphy, Feilin; Söylet, Yunus; Dübbers, Martin; Kunst, Marc

2005-10-01

Anorectal malformations (ARM) are common congenital anomalies seen throughout the world. Comparison of outcome data has been hindered because of confusion related to classification and assessment systems. The goals of the Krinkenbeck Conference on ARM was to develop standards for an International Classification of ARM based on a modification of fistula type and adding rare and regional variants, and design a system for comparable follow up studies. Lesions were classified into major clinical groups based on the fistula location (perineal, recto-urethral, recto-vesical, vestibular), cloacal lesions, those with no fistula and anal stenosis. Rare and regional variants included pouch colon, rectal atresia or stenosis, rectovaginal fistula, H-fistula and others. Groups would be analyzed according to the type of procedure performed stratified for confounding associated conditions such as sacral anomalies and tethered cord. A standard method for postoperative assessment of continence was determined. A new International diagnostic classification system, operative groupings and a method of postoperative assessment of continence was developed by consensus of a large contingent of participants experienced in the management of patients with ARM. These methods should allow for a common standardization of diagnosis and comparing postoperative results.

Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

PubMed

Haricharan, R N; Nawaz, M; Bettolli, M; Ferretti, E

2014-01-01

Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations.

Living with Spinal Cord Injury

MedlinePlus

... With Spinal Cord Injury A spinal cord injury (SCI) can result from trauma, such as a motor ... these injuries occur in men. A person with SCI typically has some paralysis and decreased or loss ...

Umbilical cord care in newborns

MedlinePlus

... the stump clean with gauze and water only. Sponge bathe the rest of your baby, as well. ... Neonatal care - umbilical cord Images Umbilical cord healing Sponge bath References Carlo WA, Ambalavanan N. The umbilicus. ...

Transplantation of canine umbilical cord blood-derived mesenchymal stem cells in experimentally induced spinal cord injured dogs.

PubMed

Lim, Ji Hey; Byeon, Ye Eun; Ryu, Hak Hyun; Jeong, Yun Hyeok; Lee, Young Won; Kim, Wan Hee; Kang, Kyung Sun; Kweon, Oh Kyeong

2007-09-01

This study was to determine the effects of allogenic umbilical cord blood (UCB)-derived mesenchymal stem cells (MSCs) and recombinant methionyl human granulocyte colony-stimulating factor (rmhGCSF) on a canine spinal cord injury model after balloon compression at the first lumbar vertebra. Twenty-five adult mongrel dogs were assigned to five groups according to treatment after a spinal cord injury: no treatment (CN); saline treatment (CP); rmhGCSF treatment (G); UCB-MSCs treatment (UCB-MSC); co-treatment (UCBG). The UCBMSCs isolated from cord blood of canine fetuses were prepared as 10(6) cells/150 microl saline. The UCB-MSCs were directly injected into the injured site of the spinal cord and rmhGCSF was administered subcutaneously 1 week after the induction of spinal cord injury. The Olby score, magnetic resonance imaging, somatosensory evoked potentials and histopathological examinations were used to evaluate the functional recovery after transplantation. The Olby scores of all groups were zero at the 0-week evaluation. At 2 week after the transplantation, the Olby scores in the groups with the UCB-MSC and UCBG were significantly higher than in the CN and CP groups. However, there were no significant differences between the UCB-MSC and UCBG groups, and between the CN and CP groups. These comparisons remained stable at 4 and 8 week after transplantation. There was significant improvement in the nerve conduction velocity based on the somatosensory evoked potentials. In addition, a distinct structural consistency of the nerve cell bodies was noted in the lesion of the spinal cord of the UCB-MSC and UCBG groups. These results suggest that transplantation of the UCB-MSCs resulted in recovery of nerve function in dogs with a spinal cord injury and may be considered as a therapeutic modality for spinal cord injury.

Transplantation of canine umbilical cord blood-derived mesenchymal stem cells in experimentally induced spinal cord injured dogs

PubMed Central

Lim, Ji-Hey; Byeon, Ye-Eun; Ryu, Hak-Hyun; Jeong, Yun-Hyeok; Lee, Young-Won; Kim, Wan Hee

2007-01-01

This study was to determine the effects of allogenic umbilical cord blood (UCB)-derived mesenchymal stem cells (MSCs) and recombinant methionyl human granulocyte colony-stimulating factor (rmhGCSF) on a canine spinal cord injury model after balloon compression at the first lumbar vertebra. Twenty-five adult mongrel dogs were assigned to five groups according to treatment after a spinal cord injury: no treatment (CN); saline treatment (CP); rmhGCSF treatment (G); UCB-MSCs treatment (UCB-MSC); co-treatment (UCBG). The UCB-MSCs isolated from cord blood of canine fetuses were prepared as 106 cells/150 µl saline. The UCB-MSCs were directly injected into the injured site of the spinal cord and rmhGCSF was administered subcutaneously 1 week after the induction of spinal cord injury. The Olby score, magnetic resonance imaging, somatosensory evoked potentials and histopathological examinations were used to evaluate the functional recovery after transplantation. The Olby scores of all groups were zero at the 0-week evaluation. At 2 week after the transplantation, the Olby scores in the groups with the UCB-MSC and UCBG were significantly higher than in the CN and CP groups. However, there were no significant differences between the UCB-MSC and UCBG groups, and between the CN and CP groups. These comparisons remained stable at 4 and 8 week after transplantation. There was significant improvement in the nerve conduction velocity based on the somatosensory evoked potentials. In addition, a distinct structural consistency of the nerve cell bodies was noted in the lesion of the spinal cord of the UCB-MSC and UCBG groups. These results suggest that transplantation of the UCB-MSCs resulted in recovery of nerve function in dogs with a spinal cord injury and may be considered as a therapeutic modality for spinal cord injury. PMID:17679775

Pulmonary hypertensive crisis following ethanol sclerotherapy for a complex vascular malformation.

PubMed

Cordero-Schmidt, G; Wallenstein, M B; Ozen, M; Shah, N A; Jackson, E; Hovsepian, D M; Palma, J P

2014-09-01

Anhydrous ethanol is a commonly used sclerotic agent for treating vascular malformations. We describe the case of a full-term 15-day-old female with a complex venolymphatic malformation involving the face and orbit. During treatment of the lesion with ethanol sclerotherapy, she suffered acute pulmonary hypertensive crisis. We discuss the pathophysiology of pulmonary hypertension related to ethanol sclerotherapy, and propose that hemolysis plays a significant role. Recommendations for evaluation, monitoring and management of this complication are also discussed.

Neuropeptide Y in human spinal cord.

PubMed

Allen, J M; Gibson, S J; Adrian, T E; Polak, J M; Bloom, S R

1984-08-06

The distribution of a newly described peptide, neuropeptide Y (NPY) within the human spinal cord has been determined using radioimmunoassay and immunocytochemistry. Higher concentrations were found in the lumbar (49.9 +/- 6.8 pmol/g) and sacral (47.0 +/- 10.6 pmol/g) regions than in the cervical (27.6 +/- 2.7 pmol/g) and thoracic spinal cord (33.8 +/- 5.3 pmol/g). Immunocytochemistry revealed numerous nerve fibers containing NPY in the spinal cord; these were particularly concentrated in the substantia gelatinosa of the dorsal horn. In the ventral spinal cord NPY-containing nerves were sparse becoming more abundant in lumbosacral segments.

Diagnostic value of neuro-ophthalmological signs in cases of Chiari I malformation.

PubMed

Bekerman, Inessa; Sigal, Tal; Kimiagar, Itzhak; Almer, Zina Evy; Vaiman, Michael

2016-12-01

Our purpose was to evaluate the diagnostic value of measuring diameters of optic nerve sheath (ONSD), presence/absence of papilledema, tortuosity of the optic nerve, flattening of the posterior sclera, and intraocular protrusion of the prelaminar optic nerve for intracranial pressure assessment in cases of Chiari I malformation. In a retrospective study, MRI data of 37 consecutive pediatric patients with Chiari malformation and data of 400 patients without intracranial pathology were compared and analyzed. ONSDs were measured at the point where the ophthalmic artery crosses the optic nerve (anatomical landmark). The correlation analysis was performed with clinical findings, gender, age, papilledema, and other neuro-ophthalmological findings. ONSD was enlarged in 38 % of cases of Chiari malformation. The enlargement was bilateral, no correlation with age or gender was found (p = 0.67 and p = 0.76, respectively). The presence of papilledema was detected in 19 % of cases presenting less valuable diagnostic sign if compared with ONSD. The tortuosity of the optic nerve was found in 22 % of cases, but in three patients, it was unilateral. All patients with enlarged ONSD and other neuro-ophthalmological signs present were treated surgically, while most of the patients without these signs (20/23) were treated conservatively. In majority of pediatric cases of Chiari malformation, the ONSD is not enlarged and other neuro-ophthalmological signs are not present. Detecting the enlarged ONSD and other neuro-ophthalmological signs in cases of Chiari malformation may indicate the elevated intracranial pressure and necessity for urgent surgical intervention.

[Intestinal polyp of the umbilical cord].

PubMed

Guschmann, M; Janda, J; Wenzelides, K; Vogel, M

2002-02-01

The morphology, pathogenesis, complications and differential diagnosis of an intestinal polyp of the umbilical cord are presented. The polyp were detected postnatal on the umbilical cord in an healthy male newborn. The presents of intestinal tissue upon the umbilical cord ist possible about the persistence from remnants of the ductus omphalomesentericus with prolapse and differentiation of the intestinal cells. The ductus omphalomesentericus is a tubular structure, a communication between the developing embryonic gut and the yolk sac, forming during the early embryonic life. Obliteration of the omphalomesenteric duct is usually complete by the 10(th) week of gestation. Various portions of the duct may persist, however, giving rise to polyps, fistulas or cysts of the umbilical cord with potentially dangerous clinical consequences. Other tumors of the umbilical cord are myxoma, angioma and teratoma are differential diagnosis.

Cyclical vomiting syndrome secondary to a Chiari I malformation-a case report.

PubMed

White, William L; Bagga, Veejay; Campbell, David I; Hart, Anthony R; Ushewokunze, Shungu

2017-12-01

Cyclical vomiting syndrome is a disorder characterised by recurrent episodes of profuse vomiting. There are no cases in the literature on the management of children with presenting with cyclical vomiting syndrome and a Chiari malformation type I. We report the case of a 12-year-old child diagnosed with cyclical vomiting syndrome and a Chiari malformation type I. The patient received symptomatic relief following a craniocervical decompression.

Relationship between mandibular anatomy and the occurrence of a bad split upon sagittal split osteotomy.

PubMed

Aarabi, Mohammadali; Tabrizi, Reza; Hekmat, Mina; Shahidi, Shoaleh; Puzesh, Ayatollah

2014-12-01

A bad split is a troublesome complication of the sagittal split osteotomy (SSO). The aim of this study was to evaluate the relation between the occurrence of a bad split and mandibular anatomy in SSO using cone-beam computed tomography. The authors designed a cohort retrospective study. Forty-eight patients (96 SSO sites) were studied. The buccolingual thickness of the retromandibular area (BLR), the buccolingual thickness of the ramus at the level of the lingula (BLTR), the height of the mandible from the alveolar crest to the inferior border of the mandible, (ACIB), the distance between the sigmoid notch and the inferior border of the mandible (SIBM), and the anteroposterior width of the ramus (APWR) were measured. The independent t test was applied to compare anatomic measurements between the group with and the group without bad splits. The receiver operating characteristic (ROC) test was used to find a cutoff point in anatomic size for various parts of the mandible related to the occurrence of bad splits. The mean SIBM was 47.05±6.33 mm in group 1 (with bad splits) versus 40.66±2.44 mm in group 2 (without bad splits; P=.01). The mean BLTR was 5.74±1.11 mm in group 1 versus 3.19±0.55 mm in group 2 (P=.04). The mean BLR was 14.98±2.78 mm in group 1 versus 11.21±1.29 mm in group 2 (P=.001). No statistically significant difference was found for APWR and ACIB between the 2 groups. The ROC test showed cutoff points of 10.17 mm for BLR, 36.69 mm for SIBM, and 4.06 mm for BLTR. This study showed that certain mandibular anatomic differences can increase the risk of a bad split during SSO surgery. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

SplitRacer - a new Semi-Automatic Tool to Quantify And Interpret Teleseismic Shear-Wave Splitting

NASA Astrophysics Data System (ADS)

Reiss, M. C.; Rumpker, G.

2017-12-01

We have developed a semi-automatic, MATLAB-based GUI to combine standard seismological tasks such as the analysis and interpretation of teleseismic shear-wave splitting. Shear-wave splitting analysis is widely used to infer seismic anisotropy, which can be interpreted in terms of lattice-preferred orientation of mantle minerals, shape-preferred orientation caused by fluid-filled cracks or alternating layers. Seismic anisotropy provides a unique link between directly observable surface structures and the more elusive dynamic processes in the mantle below. Thus, resolving the seismic anisotropy of the lithosphere/asthenosphere is of particular importance for geodynamic modeling and interpretations. The increasing number of seismic stations from temporary experiments and permanent installations creates a new basis for comprehensive studies of seismic anisotropy world-wide. However, the increasingly large data sets pose new challenges for the rapid and reliably analysis of teleseismic waveforms and for the interpretation of the measurements. Well-established routines and programs are available but are often impractical for analyzing large data sets from hundreds of stations. Additionally, shear wave splitting results are seldom evaluated using the same well-defined quality criteria which may complicate comparison with results from different studies. SplitRacer has been designed to overcome these challenges by incorporation of the following processing steps: i) downloading of waveform data from multiple stations in mseed-format using FDSNWS tools; ii) automated initial screening and categorizing of XKS-waveforms using a pre-set SNR-threshold; iii) particle-motion analysis of selected phases at longer periods to detect and correct for sensor misalignment; iv) splitting analysis of selected phases based on transverse-energy minimization for multiple, randomly-selected, relevant time windows; v) one and two-layer joint-splitting analysis for all phases at one station by

Initial evaluation of developmental malformation as an end point in mixture toxicity hazard assessment for aquatic vertebrates

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dawson, D.A.; Wilke, T.S.

1991-04-01

The joint toxic action of three binary mixtures was determined for the embryo malformation endpoint of the aquatic FETAX (frog embryo teratogenesis assay: Xenopus) test system. Osteolathyrogenic compounds and short-chain carboxylic acids, representing separate, distinct modes of action for induction of malformation, were selected for testing in 96-hr, static-renewal tests. Three mixtures were tested for each combination, with each combination being tested on three separate occasions. Using toxic unit analysis, the combination of osteolathyrogens and the combination of carboxylic acids produced strictly additive (concentration addition) rates of malformation, while the combination of an osteolathyrogen and a carboxylic acid was less-than-additivemore » (response addition) for induction of malformation. Therefore, developmental malformation may have value as an endpoint in mixture toxicity hazard assessment.« less

Are congenital malformations more frequent in fetuses with intrahepatic persistent right umbilical vein? A comparative study.

PubMed

Adiego-Calvo, Ignacio; Saviron-Cornudella, Ricardo; Martinez-Payo, Cristina; Rubio-Aranda, Encarna; Sancho-Sauco, Javier; Cisneros-Gimeno, Ana Isabel; Perez-Perez, Pilar; Lerma-Puertas, Diego; Whyte-Orozco, Jaime

2016-12-01

Persistent right umbilical vein (PRUV) is a vascular anomaly where the right umbilical vein remains as the only conduit that returns oxygenated blood to the fetus. It has classically been described as associated with numerous defects. We distinguish the intrahepatic variant (better prognosis) and the extrahepatic variant (associated with worse prognosis). The objective of this study was to compare rates of congenital malformations in fetuses with intrahepatic PRUV (I-PRUV) versus singleton pregnancies without risk factors. A multicenter, crossover design, comparative study was performed between 2003 and 2013 on fetuses diagnosed with I-PRUV (n=56), and singleton pregnancies without congenital malformation risk factors (n=4050). Fifty-six cases of I-PRUV were diagnosed (incidence 1:770). A statistically significant association between I-PRUV and the presence of congenital malformations (odds ratio 4.321; 95% confidence interval 2.15-8.69) was found. This positive association was only observed with genitourinary malformations (odds ratio 3.038; 95% confidence interval 1.08-8.56). Our rate of malformations associated with I-PRUV (17.9%) is similar to previously published rates. I-PRUV has shown a significant increase in the rate of associated malformations, although this association has only been found to be statistically significant in the genitourinary system. Noteworthy is the fact that this comparative study has not pointed to a significant increase in the congenital heart malformation rate. Diagnosis of isolated I-PRUV does not carry a worse prognosis. Copyright © 2016. Published by Elsevier B.V.

Gastrointestinal system malformations in children are associated with congenital heart defects.

PubMed

Orün, Utku Arman; Bilici, Meki; Demirçeken, Fulya G; Tosun, Mahya; Ocal, Burhan; Cavuşoğlu, Yusuf Hakan; Erdoğan, Derya; Senocak, Filiz; Karademir, Selmin

2011-03-01

To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

PubMed

Vivanti, Alexandre; Ozanne, Augustin; Grondin, Cynthia; Saliou, Guillaume; Quevarec, Loic; Maurey, Helène; Aubourg, Patrick; Benachi, Alexandra; Gut, Marta; Gut, Ivo; Martinovic, Jelena; Sénat, Marie Victoire; Tawk, Marcel; Melki, Judith

2018-04-01

See Meschia (doi:10.1093/brain/awy066) for a scientific commentary on this article.Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools. Knockdown of ephb4 in zebrafish embryos leads to specific anomalies of dorsal cranial vessels including the dorsal longitudinal vein, which is the orthologue of the median prosencephalic vein and the embryonic precursor of the vein of Galen. This model allowed us to investigate EPHB4 loss-of-function mutations in this disease by the ability to rescue the brain vascular defect in knockdown zebrafish co-injected with wild-type, but not truncated EPHB4, mimicking the p.His191Alafs mutation. Our data showed that in both species, loss of function mutations of EPHB4 result in specific and similar brain vascular development anomalies. Recently, EPHB4 germline mutations have been reported in non-immune hydrops fetalis and in cutaneous capillary malformation-arteriovenous malformation. Here, we show that EPHB4 mutations are also responsible for vein of Galen aneurysmal malformation, indicating that heterozygous germline mutations of EPHB4 result in a large clinical spectrum. The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. Endovascular

Spine malformation complex in 3 diverse syndromic entities: Case reports.

PubMed

Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

2016-12-01

Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis.

Embolization with Gamma Knife Radiosurgery of Giant Intracranial Arteriovenous Malformations.

PubMed

Chun, Dong Hyun; Kim, Moo Seong; Kim, Sung Tae; Paeng, Sung Hwa; Jeong, Hae Woong; Lee, Won Hee

2016-01-01

Giant arteriovenous malformations (i.e., those greater than 6 cm maximum diameter or volume > 33 cc) are difficult to treat and often carry higher treatment morbidity and mortality rates. In our study, we reviewed the angiographic results and clinical outcomes for 11 patients with giant arteriovenous malformations who were treated between 1994 and 2012. The patients selected included 9 males (82%) and 2 females (18%). Their presenting symptoms were hemorrhage (n=2; 18%), seizure (n=7; 64%), and headache (n=2; 12%). Nine patients were Spetzler-Martin Grade III, 2 were Spetzler-Martin Grade IV. The mean arteriovenous malformation volume was 41 cc (33-52 cc). The mean age of the patients was 45.1 years (24-57 years) and the mean radiation dose delivered to the margin of the nidus was 14.2 Gy. Ten patients received pre-Gamma Knife radiosurgery embolization and Gamma Knife radiosurgery, 1 patient received pre-Gamma Knife radiosurgery embolization and Gamma Knife radiosurgery twice and the interval between Gamma Knife radiosurgeries was 3 months. The complete obliteration rate following Gamma Knife radiosurgery was 36%, subtotal obliteration ( > 70% decreased size of nidus) was 36%, and partial obliteration was 28%. One patient experienced a small hemorrhage after embolization. Combined embolization and Gamma Knife radiosurgery showed successful obliteration of the arteriovenous malformation nidus. The use of embolization to initially reduce nidus size followed by Gamma Knife radiosurgery improves the treatment results. Repeated Gamma Knife radiosurgery should be a treatment option when there is a small nidus remnant.

Malignant spinal cord compression in cancer patients may be mimicked by a primary spinal cord tumour.

PubMed

Mohammadianpanah, M; Vasei, M; Mosalaei, A; Omidvari, S; Ahmadloo, N

2006-12-01

Although it is quite rare, second primary neoplasms in cancer patients may present with the signs and symptoms of malignant spinal cord compression. Primary spinal cord tumours in the cancer patients may be deceptive and considered as the recurrent first cancer. Therefore, it should be precisely differentiated and appropriately managed. We report such a case of intramedullary ependymoma of the cervical spinal cord mimicking metatstatic recurrent lymphoma and causing cord compression. A 50-year-old man developed intramedullary ependymoma of the cervical spinal cord 1.5 years following chemoradiation for Waldeyer's ring lymphoma. He presented with a 2-month history of neck pain, progressive upper- and lower-extremity numbness and weakness, and bowel and bladder dysfunction. Magnetic resonance imaging revealed an intramedullary expansive lesion extending from C4 to C6 levels of the cervical spinal cord. The clinical and radiological findings were suggestive of malignant process. A comprehensive investigation failed to detect another site of disease. He underwent operation, and the tumour was subtotally resected. The patient's neurological deficits improved subsequently. The development of the intramedullary ependymoma following treating lymphoma has not been reported. We describe the clinical, radiological and pathological findings of this case and review the literature.

Acquired Chiari I Malformation with Syringomyelia Secondary to Colloid Cyst with Hydrocephalus-Case Report and Review of Literature.

PubMed

Thotakura, Amit Kumar; Marabathina, Nageswara R

2017-12-01

Acquired Chiari malformation and associated syringomyelia have been previously described following lumbar puncture/drainage, lumboperitoneal shunts, and spontaneous cerebrospinal fluid leakage. In addition to these etiologies, space-occupying lesions such as meningiomas, epidermoid cysts, medulloblastomas, and arachnoid cysts are rare causes of acquired Chiari malformation and syringomyelia. We report a rare case of colloid cyst with hydrocephalus causing secondary Chiari malformation with syringomyelia. A 58-year-old lady presented with neck pain and difficulty in walking and numbness of all 4 limbs of 1-year duration. Diagnostics with magnetic resonance imaging of the head and the cervical spine were done in the referring hospital. The patients was then referred with the diagnosis of colloid cyst with hydrocephalus and Chiari malformation 1 with cervicodorsal syringomyelia. She underwent colloid cyst excision through the transcallosal approach. Postoperatively the patient showed improvement in her symptomatology. Magnetic resonance imaging of the brain and cervical spine at 6 months' follow-up showed resolved Chiari malformation and resolving syrinx. Colloid cyst with hydrocephalus is a rare cause of secondary Chiari malformation with syringomyelia. Surgical management of the underlying lesion improves acquired Chiari malformation and associated syringomyelia. Copyright © 2017 Elsevier Inc. All rights reserved.

Single-stage excision of localized head and neck venous malformations using preoperative glue embolization.

PubMed

Tieu, David D; Ghodke, Basavaraj V; Vo, Nghia J; Perkins, Jonathan A

2013-04-01

Describe single-stage removal of head and neck venous malformations using percutaneous embolization with n-butyl cyanoacrylate (n-BCA) glue prior to surgical resection. Case series with chart review. Tertiary-care pediatric hospital. A total of 169 venous malformations were identified between 2000 and 2012, and 102 (60.1%) were in the head and neck. Thirty-five of 102 (34.3%) were observed, 56 of 102 (54.9%) had invasive therapy, and 11 of 102 (10.8%) underwent n-BCA embolization and surgery ("GES procedure"). The median age of the glue embolization and surgery cohort was 14 years (range, 6-19), and 7 of 11 (63.6%) were female. Treated venous malformations involved the oral cavity/tongue (4/11; 36.4%) and parotid/face (7/11; 63.6%). During facial lesion excision, intraoperative facial nerve monitoring was used. All surgical sites (11/11) were closed primarily. No patient in this cohort had any posttreatment nerve deficits, dysarthria, and dysphagia or lesion persistence. Localized venous malformations can be treated with preoperative percutaneous embolization with n-BCA glue followed by surgical excision. This technique, with selective motor nerve monitoring, appears safe and allows for complete venous malformation removal with limited nerve dissection, to allow maximal tissue and functional preservation.

Reduced intensity haplo plus single cord transplant compared to double cord transplant: improved engraftment and graft-versus-host disease-free, relapse-free survival

PubMed Central

van Besien, Koen; Hari, Parameswaran; Zhang, Mei-Jie; Liu, Hong-Tao; Stock, Wendy; Godley, Lucy; Odenike, Olatoyosi; Larson, Richard; Bishop, Michael; Wickrema, Amittha; Gergis, Usama; Mayer, Sebastian; Shore, Tsiporah; Tsai, Stephanie; Rhodes, Joanna; Cushing, Melissa M.; Korman, Sandra; Artz, Andrew

2016-01-01

Umbilical cord blood stem cell transplants are commonly used in adults lacking HLA-identical donors. Delays in hematopoietic recovery contribute to mortality and morbidity. To hasten recovery, we used co-infusion of progenitor cells from a partially matched related donor and from an umbilical cord blood graft (haplo-cord transplant). Here we compared the outcomes of haplo-cord and double-cord transplants. A total of 97 adults underwent reduced intensity conditioning followed by haplo-cord transplant and 193 patients received reduced intensity conditioning followed by double umbilical cord blood transplantation. Patients in the haplo-cord group were more often from minority groups and had more advanced malignancy. Haplo-cord recipients received fludarabine-melphalan-anti-thymocyte globulin. Double umbilical cord blood recipients received fludarabine-cyclophosphamide and low-dose total body irradiation. In a multivariate analysis, haplo-cord had faster neutrophil (HR=1.42, P=0.007) and platelet (HR=2.54, P<0.0001) recovery, lower risk of grade II–IV acute graft-versus-host disease (HR=0.26, P<0.0001) and chronic graft-versus-host disease (HR=0.06, P<0.0001). Haplo-cord was associated with decreased risk of relapse (HR 0.48, P=0.001). Graft-versus-host disease-free, relapse-free survival was superior with haplo-cord (HR 0.63, P=0.002) but not overall survival (HR=0.97, P=0.85). Haplo-cord transplantation using fludarabine-melphalan-thymoglobulin conditioning hastens hematopoietic recovery with a lower risk of relapse relative to double umbilical cord blood transplantation using the commonly used fludarabine-cyclophosphamide-low-dose total body irradiation conditioning. Graft-versus-host disease-free and relapse-free survival is significantly improved. Haplo-cord is a readily available graft source that improves outcomes and access to transplant for those lacking HLA-matched donors. Trials registered at clinicaltrials.gov identifiers 00943800 and 01810588. PMID

Topologically preserving straightening of spinal cord MRI.

PubMed

De Leener, Benjamin; Mangeat, Gabriel; Dupont, Sara; Martin, Allan R; Callot, Virginie; Stikov, Nikola; Fehlings, Michael G; Cohen-Adad, Julien

2017-10-01

To propose a robust and accurate method for straightening magnetic resonance (MR) images of the spinal cord, based on spinal cord segmentation, that preserves spinal cord topology and that works for any MRI contrast, in a context of spinal cord template-based analysis. The spinal cord curvature was computed using an iterative Non-Uniform Rational B-Spline (NURBS) approximation. Forward and inverse deformation fields for straightening were computed by solving analytically the straightening equations for each image voxel. Computational speed-up was accomplished by solving all voxel equation systems as one single system. Straightening accuracy (mean and maximum distance from straight line), computational time, and robustness to spinal cord length was evaluated using the proposed and the standard straightening method (label-based spline deformation) on 3T T 2 - and T 1 -weighted images from 57 healthy subjects and 33 patients with spinal cord compression due to degenerative cervical myelopathy (DCM). The proposed algorithm was more accurate, more robust, and faster than the standard method (mean distance = 0.80 vs. 0.83 mm, maximum distance = 1.49 vs. 1.78 mm, time = 71 vs. 174 sec for the healthy population and mean distance = 0.65 vs. 0.68 mm, maximum distance = 1.28 vs. 1.55 mm, time = 32 vs. 60 sec for the DCM population). A novel image straightening method that enables template-based analysis of quantitative spinal cord MRI data is introduced. This algorithm works for any MRI contrast and was validated on healthy and patient populations. The presented method is implemented in the Spinal Cord Toolbox, an open-source software for processing spinal cord MRI data. 1 Technical Efficacy: Stage 1 J. Magn. Reson. Imaging 2017;46:1209-1219. © 2017 International Society for Magnetic Resonance in Medicine.

[The genetic background for the eye malformations anophthalmia and microphthalmia].

PubMed

Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

2012-03-12

Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

The Chiari 3.5 malformation: a review of the only reported case.

PubMed

Fisahn, Christian; Shoja, Mohammadali M; Turgut, Mehmet; Oskouian, Rod J; Oakes, W Jerry; Tubbs, R Shane

2016-12-01

In 1894, Giuseppe Muscatello described what we believe to be the only case of an occipitocervical encephalocele with a communication to the stomach. This case and its history and context compared to the Chiari 3 malformation as described 3 years earlier by Hans Chiari are presented. Based on the uniqueness of this case, we propose the term Chiari 3.5 malformation be used to describe its anatomical derailment.

Are Ducted Mini-Splits Worth It?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Winkler, Jonathan M; Maguire, Jeffrey B; Metzger, Cheryn E.

Ducted mini-split heat pumps are gaining popularity in some regions of the country due to their energy-efficient specifications and their ability to be hidden from sight. Although product and install costs are typically higher than the ductless mini-split heat pumps, this technology is well worth the premium for some homeowners who do not like to see an indoor unit in their living area. Due to the interest in this technology by local utilities and homeowners, the Bonneville Power Administration (BPA) has funded the Pacific Northwest National Laboratory (PNNL) and the National Renewable Energy Laboratory (NREL) to develop capabilities within themore » Building Energy Optimization (BEopt) tool to model ducted mini-split heat pumps. After the fundamental capabilities were added, energy-use results could be compared to other technologies that were already in BEopt, such as zonal electric resistance heat, central air source heat pumps, and ductless mini-split heat pumps. Each of these technologies was then compared using five prototype configurations in three different BPA heating zones to determine how the ducted mini-split technology would perform under different scenarios. The result of this project was a set of EnergyPlus models representing the various prototype configurations in each climate zone. Overall, the ducted mini-split heat pumps saved about 33-60% compared to zonal electric resistance heat (with window AC systems modeled in the summer). The results also showed that the ducted mini-split systems used about 4% more energy than the ductless mini-split systems, which saved about 37-64% compared to electric zonal heat (depending on the prototype and climate).« less

Prevalence of skeletal and eye malformations in frogs from north-central United States: estimations based on collections from randomly selected sites.

PubMed

Schoff, Patrick K; Johnson, Catherine M; Schotthoefer, Anna M; Murphy, Joseph E; Lieske, Camilla; Cole, Rebecca A; Johnson, Lucinda B; Beasley, Val R

2003-07-01

Skeletal malformation rates for several frog species were determined in a set of randomly selected wetlands in the north-central USA over three consecutive years. In 1998, 62 sites yielded 389 metamorphic frogs, nine (2.3%) of which had skeletal or eye malformations. A subset of the original sites was surveyed in the following 2 yr. In 1999, 1,085 metamorphic frogs were collected from 36 sites and 17 (1.6%) had skeletal or eye malformations, while in 2000, examination of 1,131 metamorphs yielded 16 (1.4%) with skeletal or eye malformations. Hindlimb malformations predominated in all three years, but other abnormalities, involving forelimb, eye, and pelvis were also found. Northern leopard frogs (Rana pipiens) constituted the majority of collected metamorphs as well as most of the malformed specimens. However, malformations were also noted in mink frogs (R. septentrionalis), wood frogs (R. sylvatica), and gray tree frogs (Hyla spp.). The malformed specimens were found in clustered sites in all three years but the cluster locations were not the same in any year. The malformation rates reported here are higher than the 0.3% rate determined for metamorphic frogs collected from similar sites in Minnesota in the 1960s, and thus, appear to represent an elevation of an earlier baseline malformation rate.

Prevalence of skeletal and eye malformations in frogs from north-central United States: estimations based on collections from randomly selected sites

USGS Publications Warehouse

Schoff, P.K.; Johnson, C.M.; Schotthoefer, A.M.; Murphy, J.E.; Lieske, C.; Cole, Rebecca A.; Johnson, L.B.; Beasley, V.R.

2003-01-01

Skeletal malformation rates for several frog species were determined in a set of randomly selected wetlands in the north-central USA over three consecutive years. In 1998, 62 sites yielded 389 metamorphic frogs, nine (2.3%) of which had skeletal or eye malformations. A subset of the original sites was surveyed in the following 2 yr. In 1999, 1,085 metamorphic frogs were collected from 36 sites and 17 (1.6%) had skeletal or eye malformations, while in 2000, examination of 1,131 metamorphs yielded 16 (1.4%) with skeletal or eye malformations. Hindlimb malformations predominated in all three years, but other abnormalities, involving forelimb, eye, and pelvis were also found. Northern leopard frogs (Rana pipiens) constituted the majority of collected metamorphs as well as most of the malformed specimens. However, malformations were also noted in mink frogs (R. septentrionalis), wood frogs (R. sylvatica), and gray tree frogs (Hyla spp.). The malformed specimens were found in clustered sites in all three years but the cluster locations were not the same in any year. The malformation rates reported here are higher than the 0.3% rate determined for metamorphic frogs collected from similar sites in Minnesota in the 1960s, and thus, appear to represent an elevation of an earlier baseline malformation rate.

TMD splitting functions in [Formula: see text] factorization: the real contribution to the gluon-to-gluon splitting.

PubMed

Hentschinski, M; Kusina, A; Kutak, K; Serino, M

2018-01-01

We calculate the transverse momentum dependent gluon-to-gluon splitting function within [Formula: see text]-factorization, generalizing the framework employed in the calculation of the quark splitting functions in Hautmann et al. (Nucl Phys B 865:54-66, arXiv:1205.1759, 2012), Gituliar et al. (JHEP 01:181, arXiv:1511.08439, 2016), Hentschinski et al. (Phys Rev D 94(11):114013, arXiv:1607.01507, 2016) and demonstrate at the same time the consistency of the extended formalism with previous results. While existing versions of [Formula: see text] factorized evolution equations contain already a gluon-to-gluon splitting function i.e. the leading order Balitsky-Fadin-Kuraev-Lipatov (BFKL) kernel or the Ciafaloni-Catani-Fiorani-Marchesini (CCFM) kernel, the obtained splitting function has the important property that it reduces both to the leading order BFKL kernel in the high energy limit, to the Dokshitzer-Gribov-Lipatov-Altarelli-Parisi (DGLAP) gluon-to-gluon splitting function in the collinear limit as well as to the CCFM kernel in the soft limit. At the same time we demonstrate that this splitting kernel can be obtained from a direct calculation of the QCD Feynman diagrams, based on a combined implementation of the Curci-Furmanski-Petronzio formalism for the calculation of the collinear splitting functions and the framework of high energy factorization.

Anthropogenic noise causes body malformations and delays development in marine larvae

PubMed Central

de Soto, Natacha Aguilar; Delorme, Natali; Atkins, John; Howard, Sunkita; Williams, James; Johnson, Mark

2013-01-01

Understanding the impact of noise on marine fauna at the population level requires knowledge about the vulnerability of different life-stages. Here we provide the first evidence that noise exposure during larval development produces body malformations in marine invertebrates. Scallop larvae exposed to playbacks of seismic pulses showed significant developmental delays and 46% developed body abnormalities. Similar effects were observed in all independent samples exposed to noise while no malformations were found in the control groups (4881 larvae examined). Malformations appeared in the D-veliger larval phase, perhaps due to the cumulative exposure attained by this stage or to a greater vulnerability of D-veliger to sound-mediated physiological or mechanical stress. Such strong impacts suggest that abnormalities and growth delays may also result from lower sound levels or discrete exposures during the D-stage, increasing the potential for routinely-occurring anthropogenic noise sources to affect recruitment of wild scallop larvae in natural stocks. PMID:24088868

The rectourogenital connection in anorectal malformations is an ectopic anal canal.

PubMed

Rintala, R; Lindahl, H; Sariola, H; Rapola, J; Louhimo, I

1990-06-01

Histological investigation of the rectal blind pouch and rectourogenital or rectoperineal connection was performed in 10 patients with high or intermediate anorectal malformations. Nine of the patients underwent postoperative manometric evaluation. In nine of the 10 patients, transitional epithelium typical of the normal anal canal could be found in the distal rectum or rectal end of the fistulous connection. The zone of transitional epithelium was aganglionic and showed abnormally strong acetylcholinesterase reaction. A positive rectoanal inhibitory reflex was found manometrically in all cases in which the distal rectal pouch was utilized in the reconstruction of the anal canal. The slow pressure wave activity of the reconstructed anal canal was characteristic of a normal anal canal. The manometric evidence strongly suggests that there is a functional internal sphincter in high and intermediate anorectal malformations. The present study shows that in anorectal malformations the distal rectal pouch with the fistulous connection is actually an ectopic anal canal.

Severe malformations of eelpout (Zoarces viviparus) fry are induced by maternal estrogenic exposure during early embryogenesis.

PubMed

Morthorst, Jane E; Korsgaard, Bodil; Bjerregaard, Poul

2016-02-01

Pregnant eelpout were exposed via the water to known endocrine disrupting compounds (EDCs) to clarify if EDCs could be causing the increased eelpout fry malformation frequencies observed in coastal areas receiving high anthropogenic input. The presence of a teratogenic window for estrogen-induced malformations was also investigated by starting the exposure at different times during eelpout pregnancy. Both 17α-ethinylestradiol (EE2) (17.8 ng/L) and pyrene (0.5 μg/L) significantly increased fry malformation frequency whereas 4-t-octylphenol (4-t-OP) up to 14.3 μg/L did not. Vitellogenin was significantly induced by EE2 (5.7 and 17.8 ng/L) but not by 4-t-OP and pyrene. A critical period for estrogen-induced fry malformations was identified and closed between 14 and 22 days post fertilization (dpf). Exposure to 17β-estradiol (E2) between 0 and 14 dpf caused severe malformations and severity increased the closer exposure start was to fertilization, whereas malformations were absent by exposure starting later than 14 dpf. Data on ovarian fluid volume and larval length supported the suggested teratogenic window. Larval mortality also increased when exposure started right after fertilization. Copyright © 2015 Elsevier Ltd. All rights reserved.

Comparing the effect of topical application of human milk and dry cord care on umbilical cord separation time in healthy newborn infants.

PubMed

Aghamohammadi, Azar; Zafari, Mandana; Moslemi, Leila

2012-06-01

Comparing the effect of topical human milk application and dry cord care on cord separation time. This research was a randomized clinical trial study on 130 singleton and mature newborns. Newborns were placed randomly in groups of topical application of human milk and dry cord care. The umbilical separation time was compared in the two groups. Data was analyzed by SPSS software. Independent Samples t-Test, χ(2), Fisher were used in this study. Median time of cord separation in human milk application group (150.95±28.68 hours) was significantly shorter than dry cord care group (180.93±37.42 hours) (P<0.001). Topical application of human milk on the remaining part of the cord reduces the cord separation time and it can be used as an easy, cheap and non invasive way for cord care.

Particulate photocatalysts for overall water splitting

NASA Astrophysics Data System (ADS)

Chen, Shanshan; Takata, Tsuyoshi; Domen, Kazunari

2017-10-01

The conversion of solar energy to chemical energy is a promising way of generating renewable energy. Hydrogen production by means of water splitting over semiconductor photocatalysts is a simple, cost-effective approach to large-scale solar hydrogen synthesis. Since the discovery of the Honda-Fujishima effect, considerable progress has been made in this field, and numerous photocatalytic materials and water-splitting systems have been developed. In this Review, we summarize existing water-splitting systems based on particulate photocatalysts, focusing on the main components: light-harvesting semiconductors and co-catalysts. The essential design principles of the materials employed for overall water-splitting systems based on one-step and two-step photoexcitation are also discussed, concentrating on three elementary processes: photoabsorption, charge transfer and surface catalytic reactions. Finally, we outline challenges and potential advances associated with solar water splitting by particulate photocatalysts for future commercial applications.

Transplantation of Ex Vivo Expanded Umbilical Cord Blood (NiCord) Decreases Early Infection and Hospitalization.

PubMed

Anand, Sarah; Thomas, Samantha; Hyslop, Terry; Adcock, Janet; Corbet, Kelly; Gasparetto, Cristina; Lopez, Richard; Long, Gwynn D; Morris, Ashley K; Rizzieri, David A; Sullivan, Keith M; Sung, Anthony D; Sarantopoulos, Stefanie; Chao, Nelson J; Horwitz, Mitchell E

2017-07-01

Delayed hematopoietic recovery contributes to increased infection risk following umbilical cord blood (UCB) transplantation. In a Phase 1 study, adult recipients of UCB stem cells cultured ex vivo for 3 weeks with nicotinamide (NiCord) had earlier median neutrophil recovery compared with historical controls. To evaluate the impact of faster neutrophil recovery on clinically relevant early outcomes, we reviewed infection episodes and hospitalization during the first 100 days in an enlarged cohort of 18 NiCord recipients compared with 86 standard UCB recipients at our institution. The median time to neutrophil engraftment was shorter in NiCord recipients compared with standard UCB recipients (12.5 days versus 26 days; P < .001). Compared with standard UCB recipients, NiCord recipients had a significantly reduced risk for total infection (RR, 0.69; P = .01), grade 2-3 (moderate to severe) infection (RR, 0.36; P < .001), bacterial infection (RR, 0.39; P = .003), and grade 2-3 bacterial infection (RR, 0.21; P = .003) by Poisson regression analysis; this effect persisted after adjustment for age, disease stage, and grade II-IV acute GVHD. NiCord recipients also had significantly more time out of the hospital in the first 100 days post-transplantation after adjustment for age and Karnofsky Performance Status (69.9 days versus 49.7 days; P = .005). Overall, transplantation of NiCord was associated with faster neutrophil engraftment, fewer total and bacterial infections, and shorter hospitalization in the first 100 days compared with standard UCB transplantation. In conclusion, rapid hematopoietic recovery from an ex vivo expanded UCB transplantation approach is associated with early clinical benefit. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

Spinal cord injury arising in anaesthesia practice.

PubMed

Hewson, D W; Bedforth, N M; Hardman, J G

2018-01-01

Spinal cord injury arising during anaesthetic practice is a rare event, but one that carries a significant burden in terms of morbidity and mortality. In this article, we will review the pathophysiology of spinal cord injury. We will then discuss injuries relating to patient position, spinal cord hypoperfusion and neuraxial techniques. The most serious causes of spinal cord injury - vertebral canal haematoma, spinal epidural abscess, meningitis and adhesive arachnoiditis - will be discussed in turn. For each condition, we draw attention to practical, evidence-based measures clinicians can undertake to reduce their incidence, or mitigate their severity. Finally, we will discuss transient neurological symptoms. Some cases of spinal cord injury during anaesthesia can be ascribed to anaesthesia itself, arising as a direct consequence of its conduct. The injury to a spinal nerve root by inaccurate and/or incautious needling during spinal anaesthesia is an obvious example. But in many cases, spinal cord injury during anaesthesia is not caused by, related to, or even associated with, the conduct of the anaesthetic. Surgical factors, whether direct (e.g. spinal nerve root damage due to incorrect pedicle screw placement) or indirect (e.g. cord ischaemia following aortic surgery) are responsible for a significant proportion of spinal cord injuries that occur concurrently with the delivery of regional or general anaesthesia. © 2018 The Association of Anaesthetists of Great Britain and Ireland.

On split regular Hom-Lie superalgebras

NASA Astrophysics Data System (ADS)

Albuquerque, Helena; Barreiro, Elisabete; Calderón, A. J.; Sánchez, José M.

2018-06-01

We introduce the class of split regular Hom-Lie superalgebras as the natural extension of the one of split Hom-Lie algebras and Lie superalgebras, and study its structure by showing that an arbitrary split regular Hom-Lie superalgebra L is of the form L = U +∑jIj with U a linear subspace of a maximal abelian graded subalgebra H and any Ij a well described (split) ideal of L satisfying [Ij ,Ik ] = 0 if j ≠ k. Under certain conditions, the simplicity of L is characterized and it is shown that L is the direct sum of the family of its simple ideals.

[Application of 1% lauromacrogol in the treatment of facial refractory hemangioma and vascular malformations].

PubMed

Wang, Yin; Zhu, Fei; Ning, Jin-long; Li, Xiao-jing; Liu, Ye

2012-11-01

To investigate the clinical effect of 1% lauromacrogol for the treatment of facial refractory hemangioma and vascular malformation. From Sept 2009 to Nov 2011, 55 patients (20 male, 35 female, 1 month to 30 years) with different types of facial hemangiorwa and vascular malformation about 1.0 cm x (0. 5-5.0) cm x 10.0 cm in size, underwent 1% lauromacrogol intratumor injection therapy. Generally, the injection dose, concentration, frequency were determined by the age of the patients, the volume and depth of the lesion. The dose was limited to 10 mg every time. The injection interval is 14 weeks. After followed up for 3-16 months, 41 cases were cured, 9 cases were greatly improved, and 5 were partially improved. Skin necrosis happened in only 2 cases. Lauromacrogol is safe, simple and effective as a sderosing agent for the treatment of facial refractory hemangioma and vascular malformation. It provides a new and alternative way for the treatment of facial refractory hemangioma and vascular malformation.

Nannoplankton malformation during the Paleocene-Eocene Thermal Maximum and its paleoecological and paleoceanographic significance

USGS Publications Warehouse

Bralower, Timothy J.; Self-Trail, Jean

2016-01-01

The Paleocene-Eocene Thermal Maximum (PETM) is characterized by a transient group of nannoplankton, belonging to the genus Discoaster. Our investigation of expanded shelf sections provides unprecedented detail of the morphology and phylogeny of the transient Discoasterduring the PETM and their relationship with environmental change. We observe a much larger range of morphological variation than previously documented suggesting that the taxa belonged to a plexus of highly gradational morphotypes rather than individual species. We propose that the plexus represents malformed ecophenotypes of a single species that migrated to a deep photic zone refuge during the height of PETM warming and eutrophication. Anomalously, high rates of organic matter remineralization characterized these depths during the event and led to lower saturation levels, which caused malformation. The proposed mechanism explains the co-occurrence of malformed Discoaster with pristine species that grew in the upper photic zone; moreover, it illuminates why malformation is a rare phenomenon in the paleontological record.

Nannoplankton malformation during the Paleocene-Eocene Thermal Maximum and its paleoecological and paleoceanographic significance

NASA Astrophysics Data System (ADS)

Bralower, Timothy J.; Self-Trail, Jean M.

2016-10-01

The Paleocene-Eocene Thermal Maximum (PETM) is characterized by a transient group of nannoplankton, belonging to the genus Discoaster. Our investigation of expanded shelf sections provides unprecedented detail of the morphology and phylogeny of the transient Discoaster during the PETM and their relationship with environmental change. We observe a much larger range of morphological variation than previously documented suggesting that the taxa belonged to a plexus of highly gradational morphotypes rather than individual species. We propose that the plexus represents malformed ecophenotypes of a single species that migrated to a deep photic zone refuge during the height of PETM warming and eutrophication. Anomalously, high rates of organic matter remineralization characterized these depths during the event and led to lower saturation levels, which caused malformation. The proposed mechanism explains the co-occurrence of malformed Discoaster with pristine species that grew in the upper photic zone; moreover, it illuminates why malformation is a rare phenomenon in the paleontological record.

Arteriovenous malformation of the external ear: a clinical assessment with a scoping review of the literature.

PubMed

Kim, Shin Hye; Han, Seung Hoon; Song, Yoonjae; Park, Chang Sik; Song, Jae-Jin

Auricular Arteriovenous Malformation of the external ear is a rarely encountered disease; in particular, arteriovenous malformation arising from the auricle, with spontaneous bleeding, has seldom been reported. In the current study, we report an unusual case of late-onset auricular arteriovenous malformation originating from the posterior auricular artery that was confirmed by computed tomographic angiography. The case was successfully managed by pre-surgical intravascular embolization followed by total lesion excision. Prompted by this case, we also present a scoping review of the literature. A case of a 60 year-old man with right auricular arteriovenous malformation treated in our tertiary care center, and 52 patients with auricular arteriovenous malformation described in 10 case reports and a retrospective review are presented. Auricular arteriovenous malformation can manifest as swelling of the ear, pulsatile tinnitus, pain, and/or bleeding. On physical examination, a pulsatile swelling and/or a tender mass is evident. When arteriovenous malformation is suspected, the lesions should be visualized using imaging modalities that optimally detect vascular lesions, and managed via embolization, mass excision, or auricular resection. Effectiveness of the various diagnostic methods used and the treatment outcomes were analyzed. Various imaging modalities including Doppler sonography, computed tomographic angiography, magnetic resonance angiography, and/or transfemoral cerebral angiography were used to diagnose 38 cases reported in the literature. In another 15 cases, no imaging was performed; treatment was determined solely by physical examination and auscultation. Of the total of 53 cases, 12 were not treated (their symptoms were merely observed) whereas 20 underwent therapeutic embolization. In total, 32 patients, including 1 patient who was not treated and 10 with persistent or aggravated arteriovenous malformation after previous embolization, underwent mass

Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

PubMed Central

2011-01-01

Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin) to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease. PMID:21933407

Foramen magnum decompression for Chiari I malformation: a procedure not to be underestimated.

PubMed

Duddy, John Charles; Allcutt, David; Crimmins, Darach; O'Brien, David; O'Brien, Donncha Finbarr; Rawluk, Daniel; Sattar, Mohammed Taufiq; Young, Steven; Caird, John

2014-06-01

Chiari I malformation may be treated with foramen magnum decompression (FMD). We aim to describe the symptoms with which patients initially present, and to determine the number and type of complications occurring after FMD for Chiari I malformation. Retrospective review of medical records for patients who had FMD performed for Chiari I malformation between January 2009 and December 2011. Post-operative outcomes were recorded and analysed. Patient demographic details and other relevant medical conditions were also noted. Between January 2009 and December 2011, 54 FMDs were performed for Chiari I malformation. Among them, 40(74%) patients were female and 14 patients (26%) were male. The majority of patients (42.6%) were aged 16-39 years and 24.07% of patients were children aged < 16 years. A total of 30(55.6%) patients had documented evidence of a syrinx pre-operatively. 18(33.3%) patients developed complications. Nine of these developed multiple complications while nine had a single problem. One mortality was reported. Ten (18.5%) patients developed hydrocephalus requiring shunting. Two patients developed subdural collections requiring evacuation associated with hydrocephalus. Six (11.1%) patients developed post-operative infections: two CNS infections; one wound infection; and three other infections. FMD for Chiari I malformation is a procedure which carries risk. In particular, the risk of developing post-operative hydrocephalus requiring permanent shunting is relatively high. ICP monitoring prior to FMD may be required to definitively rule out raised intracranial pressure.

[A case of vocal cord contact granuloma after vocal cord polyp surgery].

PubMed

Qiu, Zhili; Jiang, Xiaoping; Yuan, Xiaodong

2016-01-01

The vocal cord polyp is easy to relapse after surgery, but if the patient has recurrence in a short term, it is necessary to consider it as postoperative vocal cord contact granuloma. If the patients with contact granuloma after surgical treatment had severe impact on the pronunciation, it is necessary to be operated and confirmed by pathology and given the treatment of acid suppression, in order to avoid postoperative recurrence.

Cough-Associated Changes in CSF Flow in Chiari I Malformation Evaluated by Real-Time MRI.

PubMed

Bhadelia, R A; Patz, S; Heilman, C; Khatami, D; Kasper, E; Zhao, Y; Madan, N

2016-05-01

Invasive pressure studies have suggested that CSF flow across the foramen magnum may transiently decrease after coughing in patients with symptomatic Chiari I malformation. The purpose of this exploratory study was to demonstrate this phenomenon noninvasively by assessing CSF flow response to coughing in symptomatic patients with Chiari I malformation by using MR pencil beam imaging and to compare the response with that in healthy participants. Eight symptomatic patients with Chiari I malformation and 6 healthy participants were studied by using MR pencil beam imaging with a temporal resolution of ∼50 ms. Patients and healthy participants were scanned for 90 seconds (without cardiac gating) to continuously record cardiac cycle-related CSF flow waveforms in real-time during resting, coughing, and postcoughing periods. CSF flow waveform amplitude, CSF stroke volume, and CSF flow rate (CSF Flow Rate = CSF Stroke Volume × Heart Rate) in the resting and immediate postcoughing periods were determined and compared between patients and healthy participants. There was no significant difference in CSF flow waveform amplitude, CSF stroke volume, and the CSF flow rate between patients with Chiari I malformation and healthy participants during rest. However, immediately after coughing, a significant decrease in CSF flow waveform amplitude (P < .001), CSF stroke volume (P = .001), and CSF flow rate (P = .001) was observed in patients with Chiari I malformation but not in the healthy participants. Real-time MR imaging noninvasively showed a transient decrease in CSF flow across the foramen magnum after coughing in symptomatic patients with Chiari I malformation, a phenomenon not seen in healthy participants. Our results provide preliminary evidence that the physiology-based imaging method used here has the potential to be an objective clinical test to differentiate symptomatic from asymptomatic patients with Chiari I malformation. © 2016 by American Journal of Neuroradiology.

Embolization as the treatment for a life-threatening mandibular arteriovenous malformation.

PubMed

Loureiro, Caio Cesar de Souza; Falchet, Paula Cristina Felix; Gavranich, João; Lobo Leandro, Luiz Fernando

2010-03-01

Mandibular arteriovenous malformation is a severe vascular pathological condition that may lead to life-threatening hemorrhages. In child and teenaged patients, a conservative treatment is preferred to avoid profuse blood loss and/or mutilating alterations in the still-growing patients' face. The aim of this article was to present a case of an 11-year-old boy with an arteriovenous malformation involving the left mandible and treated by means of endovascular embolization with direct lesional delivery of N-butyl-cyanoacrylate glue through transfemoral catheterization.

Umbilical Cord Care in the Newborn Infant.

PubMed

Stewart, Dan; Benitz, William

2016-09-01

Postpartum infections remain a leading cause of neonatal morbidity and mortality worldwide. A high percentage of these infections may stem from bacterial colonization of the umbilicus, because cord care practices vary in reflection of cultural traditions within communities and disparities in health care practices globally. After birth, the devitalized umbilical cord often proves to be an ideal substrate for bacterial growth and also provides direct access to the bloodstream of the neonate. Bacterial colonization of the cord not infrequently leads to omphalitis and associated thrombophlebitis, cellulitis, or necrotizing fasciitis. Various topical substances continue to be used for cord care around the world to mitigate the risk of serious infection. More recently, particularly in high-resource countries, the treatment paradigm has shifted toward dry umbilical cord care. This clinical report reviews the evidence underlying recommendations for care of the umbilical cord in different clinical settings. Copyright © 2016 by the American Academy of Pediatrics.

Ethanol sclerotherapy of head and neck venous malformations

PubMed Central

Orlando, José Luiz; Caldas, José Guilherme Mendes Pereira; Campos, Heloisa Galvão do Amaral; Nishinari, Kenji; Krutman, Mariana; Wolosker, Nelson

2014-01-01

ABSTRACT Objective: This retrospective study evaluated the results of sclerotherapy with low doses of ethanol for treatment of head and neck venous malformations. Methods: We treated 51 patients, 37 females. Median age was 23 years. Patients were treated with percutaneous intralesional injection of alcohol every two weeks and followed up prospectively for a median period of 18 months. Most lesions affected the face and cosmetic disfigurement was the most frequent complaint. Results: We performed a median of 7 sessions of sclerotherapy. Complete resolution or improvement was observed in 48 patients presented. Five cases of small skin ulceration, two cases of hyperpigmentation and two of paresthesia were documented; all of them were treated conservatively. Conclusion: Percutaneous sclerotherapy with low doses of ethanol is a safe and effective treatment modality for venous malformations affecting the head and neck. PMID:25003923

An algorithm for the split-feasibility problems with application to the split-equality problem.

PubMed

Chuang, Chih-Sheng; Chen, Chi-Ming

2017-01-01

In this paper, we study the split-feasibility problem in Hilbert spaces by using the projected reflected gradient algorithm. As applications, we study the convex linear inverse problem and the split-equality problem in Hilbert spaces, and we give new algorithms for these problems. Finally, numerical results are given for our main results.

Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation.

PubMed

Lee, Hee Chang; Choi, Jung Won; Lee, Ji Yeoun; Phi, Ji Hoon; Kim, Seung-Ki; Cho, Byung-Kyu; Wang, Kyu-Chang

2017-04-01

Dandy-Walker malformation (DWM) is a congenital brain anomaly characterized by dysgenesis of the cerebellar vermis and the presence of a posterior fossa cyst. The association of syringomyelia with DWM is extremely rare. A 10-year-old patient who was diagnosed with DWM in infancy presented with progressive scoliosis and fecal incontinence. He had been treated with cystoventriculoperitoneal shunting with a Y-connection during infancy, which was followed by a revision 6 years later. During the revision surgery, intraventricular bleeding occurred and was managed conservatively. Imaging studies for the current visit revealed syringomyelia along the cervicothoracic spinal cord and a membranous structure around the cervicomedullary junction. Phase-contrast cine magnetic resonance imaging (MRI) revealed disturbed cerebrospinal fluid (CSF) flow across the membrane. We excised the arachnoid web that was tethering the brainstem and blocking CSF flow. Postoperatively, the patient experienced symptom relief, and the follow-up imaging study demonstrated a dramatic decrease in the size of the syringomyelia. We suggest that syrinx formation in this patient was possibly caused by disturbed CSF flow and tethering of the brainstem. We experienced an unusual case of DWM with syringomyelia which was caused by an arachnoid web blocking CSF flow and tethering the brainstem. The arachnoid web seems to be formed by previous bleeding which occurred at the time of shunt revision. After excision of the arachnoid web, the patient showed good outcome.

Induction of mortality and malformation in Xenopus laevis embryos by water sources associated with field frog deformities.

PubMed

Burkhart, J G; Helgen, J C; Fort, D J; Gallagher, K; Bowers, D; Propst, T L; Gernes, M; Magner, J; Shelby, M D; Lucier, G

1998-12-01

Water samples from several ponds in Minnesota were evaluated for their capacity to induce malformations in embryos of Xenopus laevis. The FETAX assay was used to assess the occurrence of malformations following a 96-hr period of exposure to water samples. These studies were conducted following reports of high incidences of malformation in natural populations of frogs in Minnesota wetlands. The purpose of these studies was to determine if a biologically active agent(s) was present in the waters and could be detected using the FETAX assay. Water samples from ponds with high incidences of frog malformations (affected sites), along with water samples from ponds with unaffected frog populations (reference sites), were studied. Initial experiments clearly showed that water from affected sites induced mortality and malformation in Xenopus embryos, while water from reference sites had little or no effect. Induction of malformation was dose dependent and highly reproducible, both with stored samples and with samples taken at different times throughout the summer. The biological activity of the samples was reduced or eliminated when samples were passed through activated carbon. Limited evidence from these samples indicates that the causal factor(s) is not an infectious organism nor are ion concentrations or metals responsible for the effects observed. Results do indicate that the water matrix has a significant effect on the severity of toxicity. Based on the FETAX results and the occurrence of frog malformations observed in the field, these studies suggest that water in the affected sites contains one or more unknown agents that induce developmental abnormalities in Xenopus. These same factors may contribute to the increased incidence of malformation in native species.

Macrocystic lymphatic malformation in the pulmonary parenchyma.

PubMed

Schulman, Joshua M; Christison-Lagay, Emily R; Kozakewich, Harry P W; Boiselle, Phillip M; Burrows, Patricia E; Fox, Victor L; Fishman, Steven J

2009-05-01

We present a young girl with a diffuse, macrocystic lymphatic malformation with associated venous dilation involving the left lower pulmonary lobe and mediastinum. Recurrent hemoptysis necessitated left lower lobectomy. This is the first reported case of a macrocystic lymphatic lesion with venous anomalies located within the parenchyma of the lung.

Lake States Pulpwood Production Plummets 413,000 Cords, 1968

Treesearch

James E. Blyth

1969-01-01

This twenty-third annual report shows that the 1968 Lake States pulpwood output dropped to about 3 1/2 million cords from about 4 million cords in 1967. Michigan's roundwood harvest dropped 198,000 cords in 1968, while the Wisconsin and Minnesota harvests each fell more than 125,000 cords. Pulpwood receipts fell 1/2 million cords below the 1967 level in...

Part 1: recognizing neonatal spinal cord injury.

PubMed

Brand, M Colleen

2006-02-01

Neonatal spinal cord injury can occur in utero, as well as after either a difficult delivery or a nontraumatic delivery. Spinal cord injury can also be related to invasive nursery procedures or underlying neonatal pathology. Early clinical signs of spinal cord injury that has occurred in utero or at delivery includes severe respiratory compromise and profound hypotonia. Knowledge of risk factors and awareness of symptoms is required for early recognition and appropriate treatment. This article reviews the embryological development of the spinal column highlighting mechanisms of injury and identifying underlying factors that increase the risk of spinal cord injury in newborns. Signs and symptoms of injury, cervical spine immobilization, and the differential diagnosis are discussed. Nursing implications, general prognosis, and research in spinal cord injury are provided.

Clinical Use and Patentability of Cord Blood

PubMed

Cavusoglu, Turker; Kilic, Kubilay Dogan; Yigitturk, Gurkan; Tomruk, Canberk; Turgut, Mehmet; Uyanikgil, Yigit

2018-03-14

The blood in the umbilical cord that provides the connection between mother and fetus during pregnancy is called cord blood. The blood of umbilical cord which is usually got rid of following birth, is a very rich stem cell source. Cord blood collection gives no harm to the mother and baby. Besides, its allogeneic and au-tologous usage, the most important disadvantage is that the number of cells is insufficient in adults. Today, it is predominantly used for therapeutic purposes for many diseases. The aim of this review is giving a detailed information about groups of stem cells in cord blood and determining the point of clinical use. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

M-Split: A Graphical User Interface to Analyze Multilayered Anisotropy from Shear Wave Splitting

NASA Astrophysics Data System (ADS)

Abgarmi, Bizhan; Ozacar, A. Arda

2017-04-01

Shear wave splitting analysis are commonly used to infer deep anisotropic structure. For simple cases, obtained delay times and fast-axis orientations are averaged from reliable results to define anisotropy beneath recording seismic stations. However, splitting parameters show systematic variations with back azimuth in the presence of complex anisotropy and cannot be represented by average time delay and fast axis orientation. Previous researchers had identified anisotropic complexities at different tectonic settings and applied various approaches to model them. Most commonly, such complexities are modeled by using multiple anisotropic layers with priori constraints from geologic data. In this study, a graphical user interface called M-Split is developed to easily process and model multilayered anisotropy with capabilities to properly address the inherited non-uniqueness. M-Split program runs user defined grid searches through the model parameter space for two-layer anisotropy using formulation of Silver and Savage (1994) and creates sensitivity contour plots to locate local maximas and analyze all possible models with parameter tradeoffs. In order to minimize model ambiguity and identify the robust model parameters, various misfit calculation procedures are also developed and embedded to M-Split which can be used depending on the quality of the observations and their back-azimuthal coverage. Case studies carried out to evaluate the reliability of the program using real noisy data and for this purpose stations from two different networks are utilized. First seismic network is the Kandilli Observatory and Earthquake research institute (KOERI) which includes long term running permanent stations and second network comprises seismic stations deployed temporary as part of the "Continental Dynamics-Central Anatolian Tectonics (CD-CAT)" project funded by NSF. It is also worth to note that M-Split is designed as open source program which can be modified by users for

Testosterone Plus Finasteride Treatment After Spinal Cord Injury

ClinicalTrials.gov

2018-05-16

Spinal Cord Injury; Spinal Cord Injuries; Trauma, Nervous System; Wounds and Injuries; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Genital Diseases, Male

MICROCOMPUTED TOMOGRAPHIC, MORPHOMETRIC, AND HISTOPATHOLOGIC ASSESSMENT OF CONGENITAL BONE MALFORMATIONS IN TWO NEOTROPICAL VIPERIDS.

PubMed

de Carvalho, Marcelo Pires Nogueira; Sant'Anna, Sávio Stefanini; Grego, Kathleen Fernandes; de Campos Fonseca-Pinto, Ana Carolina Brandão; Lorigados, Carla Aparecida Batista; Queiroz-Hazarbassanov, Nicolle Gilda Teixeira; Catão-Dias, José Luiz

2017-10-01

Congenital malformations have been reported in all classes of vertebrates and may be a determinant of life span and survival. In reptiles, the incidence of congenital malformations can be associated with genetic and environmental causes, including pollution. The characterization of pathological processes involved in the development of congenital malformations of bone in snakes is rare in the literature, but is of great relevance in the field of reptile conservation and environmental health. We describe congenital bone lesions in 50 newborn jararaca (Bothrops jararaca) and 26 South American rattlesnakes (Crotalus durissus terrificus) born from wild-caught pregnant females in Southeastern Brazil. Lesions were evaluated by morphometric quantitative analysis, x-ray microtomography, and histopathologic descriptive analysis. Morphometric analysis showed that jararaca presented more severe axial lesions (kyphosis, scoliosis, and kyphoscoliosis) than rattlesnakes. Female rattlesnakes presented more severe axial lesions than did males. In rattlesnakes, spinal deformities were more frequently diagnosed in the caudal segment of the body. We present x-ray microtomographic assessments and images of malformed snakes (n=9) and characterized novel malformations, such as the agenesis of frontal, parietal, and supraoccipital bones in a jararaca specimen. Histopathologic findings included vertebral body fusion, myositis, coagulation necrosis, and disorganization of periaxial muscle fibers. The new methods and results presented in this study will be useful and informative for future research in pathology, teratology, embryology, and ecotoxicology in snakes.

Dandy-Walker Malformation: is the 'tail sign' the key sign?

PubMed

Bernardo, Silvia; Vinci, Valeria; Saldari, Matteo; Servadei, Francesca; Silvestri, Evelina; Giancotti, Antonella; Aliberti, Camilla; Porpora, Maria Grazia; Triulzi, Fabio; Rizzo, Giuseppe; Catalano, Carlo; Manganaro, Lucia

2015-12-01

The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walker malformation. A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. Magnetic resonance imaging diagnosed 15/31 cases of Dandy-Walker malformation, 6/31 of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg syndrome, 1/31 of Blake pouch cyst and 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, fetal MRI after the 30th week or postnatal MRI; the follow-up depended on the maternal decision to terminate or continue pregnancy. In our review study, we found the presence of the 'tail sign'; this sign was visible only in Dandy-Walker malformation and Walker-Warburg syndrome. The 'tail sign' could be helpful in the difficult differential diagnosis between Dandy-Walker, vermian malrotation, vermian hypoplasia and vermian partial agenesis. © 2015 John Wiley & Sons, Ltd.

12 CFR 7.2023 - Reverse stock splits.

Code of Federal Regulations, 2010 CFR

2010-01-01

... Corporate Practices § 7.2023 Reverse stock splits. (a) Authority to engage in reverse stock splits. A national bank may engage in a reverse stock split if the transaction serves a legitimate corporate purpose and provides adequate dissenting shareholders' rights. (b) Legitimate corporate purpose. Examples of...

Adaptation mechanism of interlimb coordination in human split-belt treadmill walking through learning of foot contact timing: a robotics study

PubMed Central

Fujiki, Soichiro; Aoi, Shinya; Funato, Tetsuro; Tomita, Nozomi; Senda, Kei; Tsuchiya, Kazuo

2015-01-01

Human walking behaviour adaptation strategies have previously been examined using split-belt treadmills, which have two parallel independently controlled belts. In such human split-belt treadmill walking, two types of adaptations have been identified: early and late. Early-type adaptations appear as rapid changes in interlimb and intralimb coordination activities when the belt speeds of the treadmill change between tied (same speed for both belts) and split-belt (different speeds for each belt) configurations. By contrast, late-type adaptations occur after the early-type adaptations as a gradual change and only involve interlimb coordination. Furthermore, interlimb coordination shows after-effects that are related to these adaptations. It has been suggested that these adaptations are governed primarily by the spinal cord and cerebellum, but the underlying mechanism remains unclear. Because various physiological findings suggest that foot contact timing is crucial to adaptive locomotion, this paper reports on the development of a two-layered control model for walking composed of spinal and cerebellar models, and on its use as the focus of our control model. The spinal model generates rhythmic motor commands using an oscillator network based on a central pattern generator and modulates the commands formulated in immediate response to foot contact, while the cerebellar model modifies motor commands through learning based on error information related to differences between the predicted and actual foot contact timings of each leg. We investigated adaptive behaviour and its mechanism by split-belt treadmill walking experiments using both computer simulations and an experimental bipedal robot. Our results showed that the robot exhibited rapid changes in interlimb and intralimb coordination that were similar to the early-type adaptations observed in humans. In addition, despite the lack of direct interlimb coordination control, gradual changes and after-effects in the

Adaptation mechanism of interlimb coordination in human split-belt treadmill walking through learning of foot contact timing: a robotics study.

PubMed

Fujiki, Soichiro; Aoi, Shinya; Funato, Tetsuro; Tomita, Nozomi; Senda, Kei; Tsuchiya, Kazuo

2015-09-06

Human walking behaviour adaptation strategies have previously been examined using split-belt treadmills, which have two parallel independently controlled belts. In such human split-belt treadmill walking, two types of adaptations have been identified: early and late. Early-type adaptations appear as rapid changes in interlimb and intralimb coordination activities when the belt speeds of the treadmill change between tied (same speed for both belts) and split-belt (different speeds for each belt) configurations. By contrast, late-type adaptations occur after the early-type adaptations as a gradual change and only involve interlimb coordination. Furthermore, interlimb coordination shows after-effects that are related to these adaptations. It has been suggested that these adaptations are governed primarily by the spinal cord and cerebellum, but the underlying mechanism remains unclear. Because various physiological findings suggest that foot contact timing is crucial to adaptive locomotion, this paper reports on the development of a two-layered control model for walking composed of spinal and cerebellar models, and on its use as the focus of our control model. The spinal model generates rhythmic motor commands using an oscillator network based on a central pattern generator and modulates the commands formulated in immediate response to foot contact, while the cerebellar model modifies motor commands through learning based on error information related to differences between the predicted and actual foot contact timings of each leg. We investigated adaptive behaviour and its mechanism by split-belt treadmill walking experiments using both computer simulations and an experimental bipedal robot. Our results showed that the robot exhibited rapid changes in interlimb and intralimb coordination that were similar to the early-type adaptations observed in humans. In addition, despite the lack of direct interlimb coordination control, gradual changes and after-effects in the

[Macro- and microscopic systematization of cerebral cortex malformations in children].

PubMed

Milovanov, A P; Milovanova, O A

2011-01-01

For the first time in pediatric pathologicoanatomic practice the complete systematization of cerebral cortex malformations is represented. Organ, macroscopic forms: microencephaly, macroencephaly, micropolygyria, pachygyria, schizencephaly, porencephaly, lissencephaly. Histic microdysgenesis of cortex: type I includes isolated abnormalities such as radial (IA) and tangential (I B) subtypes of cortical dislamination; type II includes sublocal cortical dislamination with immature dysmorphic neurons (II A) and balloon cells (II B); type III are the combination focal cortical dysplasia with tuberous sclerosis of the hippocampus (III A), tumors (III B) and malformations of vessels, traumatic and hypoxic disorders (III C). Band heterotopias. Subependimal nodular heterotopias. Tuberous sclerosis. Cellular typification of cortical dysplasia: immature neurons and balloon cells.

[Type I Chiari malformation associated with cerebellar atrophy. Case report].

PubMed

Moscote-Salazar, Luis Rafael; Calderón-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Lee-Aguirre, Ángel; Alcalá-Cerra, Gabriel

2017-01-01

Chiari malformation is characterized by caudal displacement of the cerebellar tonsils that penetrate into the spinal canal through the foramen magnum, achieving reach the atlas or axis. trunk and any drop of the fourth ventricle is observed. Typically is seen in young adults. In some cases scoliosis and Syringomyelic cavities may occur. The authors present (as far as they know) the first case in the literature with long term follow-up, of a caucasian woman with an unusual form of cerebellar atrophy and Chiari Type I malformation, suffering from weakness in his upper and lower extremities with rapidly progression. The patient was successfully treated with suboccipital decompression and C1 laminectomy.

Umbilical cord blood: a guide for primary care physicians.

PubMed

Martin, Paul L; Kurtzberg, Joanne; Hesse, Brett

2011-09-15

Umbilical cord blood stem cell transplants are used to treat a variety of oncologic, genetic, hematologic, and immunodeficiency disorders. Physicians have an important role in educating, counseling, and offering umbilical cord blood donation and storage options to patients. Parents may donate their infant's cord blood to a public bank, pay to store it in a private bank, or have it discarded. The federal government and many state governments have passed laws and issued regulations regarding umbilical cord blood, and some states require physicians to discuss cord blood options with pregnant women. Five prominent medical organizations have published recommendations about cord blood donation and storage. Current guidelines recommend donation of umbilical cord blood to public banks when possible, or storage through the Related Donor Cord Blood Program when a sibling has a disease that may require a stem cell transplant. Experts do not currently recommend private banking for unidentified possible future use. Step-by-step guidance and electronic resources are available to physicians whose patients are considering saving or donating their infant's umbilical cord blood.

Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

PubMed Central

Tarani, Luigi; Del Balzo, Francesca; Costantino, Francesco; Properzi, Enrico; D’Eufemia, Patrizia; Liberati, Natascia; Spalice, Alberto

2010-01-01

Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation. PMID:21589844

Split-liver transplantation. The Paul Brousse policy.

PubMed Central

Azoulay, D; Astarcioglu, I; Bismuth, H; Castaing, D; Majno, P; Adam, R; Johann, M

1996-01-01

OBJECTIVE: The authors objective is to report their recent experience with split-liver transplantation, focusing on the results and the impact on organ shortage. SUMMARY BACKGROUND DATA: There is an insufficient number of organs for liver transplantation. Split-liver transplantation is a method to increase the number of grafts, but the procedure is slow to gain wide acceptance because of its complexity and the poor results reported in previous series. METHODS: During the year 1995, the authors split 20 of 83 transplantable livers allocated to the authors' center, generating 40 grafts: 23 were transplanted locally and 17 were given to partner centers. During the same period, the authors accepted four split-liver grafts proposed to them by other centers. Overall, 27 split-liver transplantations were done in the authors' unit, accounting for 30% of the 90 transplants performed in 1995. RESULTS: One-year patient and graft survival rates for split-liver transplantation were 79.4% and 78.5%, respectively. Arterial and biliary complications rates were 15% and 22%, respectively, with none leading to graft loss. Primary nonfunction occurred in one case (4%). By splitting 24 of 87 transplantable livers (4 of which were in partner units), a total of 111 transplantations were performed, increasing graft availability by 28%. CONCLUSIONS: Split-liver transplantation is achieving graft and patient survival rates similar to that of whole liver transplantation despite a higher incidence of complications, which could become less frequent as experience is gained with this procedure. A wider acceptance of split-liver transplantation could markedly increase the supply of liver grafts. Images Figure 1. PMID:8968228

Induction of mortality and malformation in Xenopus laevis embryos by water sources associated with field frog deformities.

PubMed Central

Burkhart, J G; Helgen, J C; Fort, D J; Gallagher, K; Bowers, D; Propst, T L; Gernes, M; Magner, J; Shelby, M D; Lucier, G

1998-01-01

Water samples from several ponds in Minnesota were evaluated for their capacity to induce malformations in embryos of Xenopus laevis. The FETAX assay was used to assess the occurrence of malformations following a 96-hr period of exposure to water samples. These studies were conducted following reports of high incidences of malformation in natural populations of frogs in Minnesota wetlands. The purpose of these studies was to determine if a biologically active agent(s) was present in the waters and could be detected using the FETAX assay. Water samples from ponds with high incidences of frog malformations (affected sites), along with water samples from ponds with unaffected frog populations (reference sites), were studied. Initial experiments clearly showed that water from affected sites induced mortality and malformation in Xenopus embryos, while water from reference sites had little or no effect. Induction of malformation was dose dependent and highly reproducible, both with stored samples and with samples taken at different times throughout the summer. The biological activity of the samples was reduced or eliminated when samples were passed through activated carbon. Limited evidence from these samples indicates that the causal factor(s) is not an infectious organism nor are ion concentrations or metals responsible for the effects observed. Results do indicate that the water matrix has a significant effect on the severity of toxicity. Based on the FETAX results and the occurrence of frog malformations observed in the field, these studies suggest that water in the affected sites contains one or more unknown agents that induce developmental abnormalities in Xenopus. These same factors may contribute to the increased incidence of malformation in native species. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 PMID:9831545

Revisiting the segmental organization of the human spinal cord.

PubMed

Leijnse, J N; D'Herde, K

2016-09-01

In classic anatomic atlases, the spinal cord is standardly represented in its anatomical form with symmetrically emerging anterior and posterior roots, which at the level of the intervertebral foramen combine into the spinal nerves. The parts of the cord delimited by the boundaries of the roots are called segments or myelomeres. Associated with their regular repetitive appearance is the notion that the cord is segmentally organized. This segmental view is reinforced by clinical practice. Spinal cord roots innervate specific body parts. The level of cord trauma is diagnosed by the de-innervation symptoms of these parts. However, systemically, the case for a segmentally organized cord is not so clear. To date, developmental and genetic research points to a regionally rather than a segmentally organized cord. In the present study, to what degree the fila radicularia are segmentally implanted along the cord was investigated. The research hypothesis was that if the fila radicularia were non-segmentally implanted at the cord surface, it would be unlikely that the internal neuron stratum would be segmented. The visual segmented aspect of the myelomeres would then be the consequence of the necessary bundling of axons towards the vertebral foramen as the only exits of the vertebral canal, rather than of an underlying segment organization of the cord itself. To investigate the research hypothesis, the fila radicularia in the cervical-upper thoracic part of five spinal cords were detached from their spinal nerves and dissected in detail. The principal research question was if the fila radicularia are separated from their spinal nerves and dissected from their connective tissues up to the cord, would it be possible to reconstruct the original spinal segments from the morphology and interspaces of the fila? The dissections revealed that the anterior fila radicularia emerge from the cord at regular regionally modulated interspaces without systematic segmental delineations. The

A descriptive model for a multidisciplinary unit for colorectal and pelvic malformations.

PubMed

Vilanova-Sanchez, Alejandra; Halleran, Devin R; Reck-Burneo, Carlos A; Gasior, Alessandra C; Weaver, Laura; Fisher, Meghan; Wagner, Andrea; Nash, Onnalisa; Booth, Kristina; Peters, Kaleigh; Williams, Charae; Brown, Sarah Mayer; Lu, Peter; Fuchs, Molly; Diefenbach, Karen; Leonard, Jeffrey R; Hewitt, Geri; McCracken, Kate; Di Lorenzo, Carlo; Wood, Richard J; Levitt, Marc A

2018-04-19

Patients with anorectal malformations (ARM), Hirschsprung disease (HD), and colonic motility disorders often require care from specialists across a variety of fields, including colorectal surgery, urology, gynecology, and GI motility. We sought to describe the process of creating a collaborative process for the care of these complex patients. We developed a model of a devoted center for these conditions that includes physicians, psychologists, social workers, nurses, and advanced practice nurses. Our weekly planning strategy includes a meeting with representatives of all specialties to review all patients prior to evaluation in our multidisciplinary clinic, followed by combined exams under anesthesia or surgical intervention as needed. There are 31 people working directly in the Center at present. From the Center's start in 2014 until 2017, 1258 patients were cared for from all 50 United States and 62 countries. 360 patients had an ARM (110 had a cloacal malformation, 11 had cloacal exstrophy), 223 presented with HD, 71 had a spinal malformation or injury causing neurogenic bowel, 321 had severe functional constipation or colonic dysmotility, and 162 had other diagnoses including familial polyposis, Crohn's disease, or ulcerative colitis. We have had 170 multidisciplinary meetings, 170 multispecialty outpatient, and 52 nurse practitioner clinics. In our bowel management program we have seen a total of 514 patients in 36 sessions. This is the first report describing the design of a multidisciplinary team approach for patients with colorectal and complex pelvic malformations. We found that approaching these patients in a collaborative way allows for combined medical and surgical decisions with many providers simultaneously, facilitates therapy, and can potentially improve patient outcomes. We hope that this model will help establish new-devoted centers in other locations to encourage centralized care for these rare malformations. IV. Copyright © 2018. Published by

Epidemiology and Outcome of Major Congenital Malformations in a Large German County.

PubMed

Wittekindt, Boris; Schloesser, Rolf; Doberschuetz, Nora; Salzmann-Manrique, Emilia; Grossmann, Jasmin; Misselwitz, Bjoern; Rolle, Udo

2018-05-01

 Congenital malformations are associated with substantial neonatal morbidity and mortality. Furthermore, only sparse data are available on the modalities of care provided to and the associated clinical outcomes in affected neonates. In this study, we focused on five malformations that require surgery during the neonatal period: duodenal stenosis and atresia (DA), gastroschisis (GA), omphalocele (OM), congenital diaphragmatic herniation (CDH), and esophageal atresia (EA).  We reviewed the Hessian neonatal registry (2010-2015) to identify records including the ICD-10 (International Classification of Diseases, Tenth Edition) codes for the aforementioned diagnoses and identified 283 patients who were affected by at least one of these conditions. Multiple regression analyses were performed to further identify risk factors for mortality and extended length of hospital stay.  The incidence rates per 10,000 live births and inhospital mortality rates were as follows: DA: 1.79 and 3.6%; GA: 1.79 and 1.8%; OM: 1.60 and 24%; CDH: 1.32 and 27.5%; and EA: 2.67 and 11.1%, respectively. Thirty-three percent of the patients had not been born in a perinatal center in which corrective surgeries were performed. The following risk factors were significantly associated with early mortality: trisomy 13 and 18, congenital heart defects, prematurity, and high-risk malformations (OM and CDH). The predictors of length of stay were as follows: gestational age, number of additional malformations, and treatment in the center with the highest patient volume.  Epidemiology and outcome of major congenital malformations in Hesse, Germany, are comparable to previously published data. In addition, our data revealed a volume-outcome association with regard to the length of hospital stay. Georg Thieme Verlag KG Stuttgart · New York.

Precision aligned split V-block

DOEpatents

George, Irwin S.

1984-01-01

A precision aligned split V-block for holding a workpiece during a milling operation having an expandable frame for allowing various sized workpieces to be accommodated, is easily secured directly to the mill table and having key lugs in one base of the split V-block that assures constant alignment.

Effect of gamma irradiation on the properties of tyre cords

NASA Astrophysics Data System (ADS)

Aytaç, Ayşe; Şen, Murat; Deniz, Veli; Güven, Olgun

2007-12-01

Gamma irradiation of high tenacity Nylon 6.6 (Ny 66) and polyester (PET) tyre cords was investigated. The untreated and treated tyre cords with different twist levels were irradiated at different dose rates in air. The effects of irradiation on both Ny 66 and PET cords were not found to be depending on the twist levels of the cords. The changes in the mechanical and thermal properties with absorbed dose at two different dose rates were measured. The mechanical properties were observed to deteriorate with increasing dose for Ny 66 cords, whereas remained almost unchanged for PET cords both in greige and dipped forms. Hot shrinkage value for the greige Ny 66 cords was found to be improved, i.e. decreased. This decrease was much lower for greige PET than Ny 66 cords. It is concluded that PET cord has higher radiation resistance than Ny 66 cord and the effects of high energy irradiation on tyre cords have to be taken into consideration during tyre design if pre-vulcanization with high energy radiation is to be applied.

Mixed chimerism and split tolerance

PubMed Central

Al-Adra, David P.

2011-01-01

Establishing hematopoietic mixed chimerism can lead to donor-specific tolerance to transplanted organs and may eliminate the need for long-term immunosuppressive therapy, while also preventing chronic rejection. In this review, we discuss central and peripheral mechanisms of chimerism induced tolerance. However, even in the long-lasting presence of a donor organ or donor hematopoietic cells, some allogeneic tissues from the same donor can be rejected; a phenomenon known as split tolerance. With the current goal of creating mixed chimeras using clinically feasible amounts of donor bone marrow and with minimal conditioning, split tolerance may become more prevalent and its mechanisms need to be explored. Some predisposing factors that may increase the likelihood of split tolerance are immunogenicity of the graft, certain donor-recipient combinations, prior sensitization, location and type of graft and minimal conditioning chimerism induction protocols. Additionally, split tolerance may occur due to a differential susceptibility of various types of tissues to rejection. The mechanisms involved in a tissue’s differential susceptibility to rejection include the presence of polymorphic tissue-specific antigens and variable sensitivity to indirect pathway effector mechanisms. Finally, we review the clinical attempts at allograft tolerance through the induction of chimerism; studies that are revealing the complex relationship between chimerism and tolerance. This relationship often displays split tolerance, and further research into its mechanisms is warranted. PMID:22509425

Defining Ebstein's malformation using three-dimensional echocardiography.

PubMed

Vettukattil, Joseph J; Bharucha, Tara; Anderson, Robert H

2007-12-01

Ebstein's malformation is difficult to visualise, for both the echocardiographer and the surgeon. The essence of the problem in Ebstein's malformation is the deviation of the hingepoints of the leaflets towards the junctions of the inlet and apical trabecular parts of the right ventricle. Three-dimensional echocardiography offers new insights into the morphology and function of malformed valves, and allows elucidation of all the features. It allows clear visualisation of the valve leaflets, showing the precise morphology of the valve leaflets, the extent of their formation, the level of their attachment, and their degree of coaptation. Visualisation of the mechanism of regurgitation or stenosis is possible, as is more accurate quantification of the regurgitant jet or jets. Subchordal apparatus may be seen more clearly using three-dimensional echocardiography, and their functional anatomy understood. The multiplanar review modality allows examination of the three-dimensional data set even in patients with sub-optimal echocardiographic imaging. Previously, much of this information could only be well-understood at the time of surgery or post mortem, meaning that the majority of the specimens fully examined were at the poorly functioning end of the spectrum. This information is of use in furthering our understanding of this complex lesion as it functions in vivo, and demonstrating which anatomical pathology is significant in producing functional and physiological consequences. It is also of use for the clinician in selecting which patients are amenable to surgical intervention, for either single or biventricular repair, and for the surgeon in planning how to approach the operation. Correlation between three-dimensional echocardiographic findings and surgical findings has already been established, but the effect of this enhanced anatomical knowledge on surgical planning and surgical outcome requires further investigation.

[Port wine stains or capillary malformations: surgical treatment].

PubMed

Berwald, C; Salazard, B; Bardot, J; Casanova, D; Magalon, G

2006-01-01

Capillary malformations do not demand mostly any therapeutics. For aesthetic reasons, family or child can demand a treatment to ease even to remove the unsightly character of the lesion. In this context, the means employees must be simple and not engender aftereffects more unaesthetic than the lesion. The pulsed dye laser fulfils perfectly this conditions by improving the color of the lesion without touching the texture of the skin. However it's a treatment requiring many sessions over 2-3 years. Surgery keeps an interest for the treatment of capillary malformations resistant to laser (in particular on the limbs) or to treat soft tissues hyperplasia met in certain cervicofacial locations. The surgery uses the whole techniques of plastic surgery classified from the most simple to the most complicated: excision-suture in one time or iterative, excision and coverage by a skin graft, use of skin expansion techniques with local flaps.

Behavioral effects of congenital ventromedial prefrontal cortex malformation

PubMed Central

2011-01-01

Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

A series of parapharyngeal glial heterotopia mimicking lymphatic malformation.

PubMed

Haloob, Nora; Pepper, Christopher; Hartley, Benjamin

2015-12-01

Otolaryngologists will most frequently encounter extra-cranial glial tissue within the nasal cavity, where it is known as a 'nasal glioma', and may communicate with the dura. However, glial tissue can also present extra-nasally in the form of a neck mass with no intracranial connection. In these rare cases, they can present soon after birth as an enlarging neck mass, causing compressive symptoms with airway obstruction and feeding difficulties. In this way, it is often initially misdiagnosed as a more common lesion such as a lymphatic malformation, teratoma, branchial anomaly or vascular malformation. As with many congenital head and neck masses, offering the most the appropriate management relies heavily on radiological imaging and, where possible, histopathology from a diagnostic biopsy. Once the diagnosis of extra-nasal glial heterotopia has been confirmed, the gold standard management is complete surgical excision. We review three cases of extra-nasal glial heterotopia presenting to our institution over an eleven year period as a large neck mass, which mimicked other congenital neck lumps, and discuss them in the context of those in the literature. We highlight how their clinical and radiological features can easily be confused with lymphatic malformations, and the potential implications of misdiagnosis. Raising awareness of this diagnostic confusion will highlight the need for management of these cases within an appropriate paediatric multidisciplinary setting. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Endoscopic laterofixation in bilateral vocal cords paralysis in children.

PubMed

Lidia, Zawadzka-Glos; Magdalena, Frackiewicz; Mieczyslaw, Chmielik

2010-06-01

Vocal cords paralysis is the second most frequent cause of laryngeal stridor in children. Symptoms of congenital vocal cords paralysis can occur shortly after birth or later. Vocal cords paralysis can be unilateral or bilateral. Symptoms of unilateral paralysis include hoarse weeping or stridor during a deep inhalation. In children unilateral vocal cords paralysis often retreats spontaneously or can be completely compensated. Children with bilateral vocal cords paralysis present mainly breathing disorders while phonation is normal. Symptoms are different, starting from complete occlusion of respiratory tracts and ending on small symptoms connected with the lack of effort tolerance. When symptoms are severe, patients from this group require a tracheotomy. The lack of restoration of normal function of vocal cords or lack of complete compensation and maintenance of symptoms are an indication for surgical treatment. The aim of this study is to present results of the treatment of bilateral vocal cords paralysis in children using the endoscopic method of laterofixation of vocal cords. In the Pediatric ENT Department between 1998 and 2009 sixty four children with dyspnoea and/or phonation disorders caused by vocal cords paralysis were treated. In ten cases laterofixation of vocal cords was performed, in most cases with good result. In this article the authors present the method of endoscopic laterofixation and achieved results. Endoscopic laterofixation of vocal cords in children is a safe and an easy method of surgical treatment of bilateral vocal cords paralysis. This method can be used as a first and often as a one stage treatment of vocal cords paralysis. In some cases this procedure is insufficient and has to be completed with other methods. Copyright (c) 2010 Elsevier Ireland Ltd. All rights reserved.

The impact of congenital cardiovascular malformations on the assessment and surgical management of infants with cleft lip and/or palate.

PubMed

Harry, Brian L; TeBockhorst, Seth; Deleyiannis, Frederic W-B

2013-05-01

The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. A single-institution retrospective study of 329 consecutive cleft patients was performed. Cardiovascular malformations were categorized according to involvement of cardiac septa, vasculature, and valves. Their impact on the need for cardiac surgery, timing of cleft repair, need for subacute bacterial endocarditis (SBE) prophylaxis, and the perioperative experience was evaluated. Ten percent (33/329) of cleft patients had a cardiovascular malformation, and 3% underwent cardiac surgery prior to cleft repair. Malformations of the septa, vasculature, and valves were present in 9%, 6%, and 2% of cleft infants, respectively. Murmur as a sign of structural cardiovascular disease was 79% sensitive and 97% specific. Cleft palate repair was delayed by 2 months in patients with a cardiovascular malformation (P = .001). Subacute bacterial endocarditis prophylaxis was recommended, not recommended, or not specified by cardiology in 18%, 33%, and 48% of cleft patients with a cardiovascular malformation, respectively. Postoperative stay and surgical complications were not associated with cardiovascular malformation. Even in the absence of a murmur, echocardiographic screening should be considered in infants with nonspecific signs of cardiovascular disease. Greater awareness of the guidelines for SBE prophylaxis is needed. Most cleft patients with a cardiovascular malformation do not require cardiac surgery and do not experience an increased rate of complications associated with cleft surgery.

Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation.

PubMed

Azukizawa, Takayuki; Yamamoto, Masahito; Narumiya, Seirou; Takano, Tomoyuki

2013-04-01

We report a 1-year-old girl with oral-facial-digital syndrome type 1 with multiple malformations of the oral cavity, face, digits, and central nervous system, including agenesis of the corpus callosum, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres. This child also had a hypothalamic hamartoma and a Dandy-Walker malformation, which have not been reported previously. The clinical features, including cerebral malformations, in several types of oral-facial-digital syndrome, overlap with each other. Further accumulation of new case reports and identification of new genetic mutations in oral-facial-digital syndrome may provide novel and important insights into the genetic mechanisms of this syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

Quantitative Analysis of Chiari-Like Malformation and Syringomyelia in the Griffon Bruxellois Dog

PubMed Central

Knowler, Susan P.; McFadyen, Angus K.; Freeman, Courtenay; Kent, Marc; Platt, Simon R.; Kibar, Zoha; Rusbridge, Clare

2014-01-01

This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes. PMID:24533070

Prospective long-term follow up of children with anorectal malformation: growth and development until 5years of age.

PubMed

van den Hondel, Desiree; Sloots, Cornelius E J; Gischler, Saskia J; Meeussen, Conny J H M; Wijnen, Rene M H; IJsselstijn, Hanneke

2013-04-01

To evaluate growth and development in children with anorectal malformations and to analyze effects of type of malformation and comorbidities. Non-syndromal children with anorectal malformations were prospectively evaluated at 0.5, 1, 2, and 5 years. Biometrics were obtained at all visits. Mental and psychomotor function development was determined. 108 children (59% male) were included. 49% had a high malformation, and 46% had ≥ 1 additional major comorbidity. All growth parameters were below the norm at all ages (p<0.01), irrespective of type of malformation. Children with ≥ 1 additional major anomaly had lower height at all ages; at 5 years, mean (95% CI) height was -1.83 (-2.7 to -1.1) and -0.70 (-1.3 to -0.1) in children with and without comorbidities, respectively (p=0.019). Mental development was normal, irrespective of the type of malformation or comorbidities. Motor development was delayed at all ages. At 5 years, motor development (n=30) was normal in 70%, borderline in 23%, and 7% had definitive motor problems (p=0.043). Non-syndromal children with anorectal malformations are at risk for growth impairment, especially those with additional major comorbidity. Mental development is normal. Motor development is slightly impaired. Supportive care should focus on growth, dietary management, and motor development besides defecation problems. Copyright © 2013 Elsevier Inc. All rights reserved.

A rare case of non-surgical vocal cord paralysis: Vocal cord hematoma.

PubMed

Arıkan, Akif Enes; Teksöz, Serkan; Bilgin, İsmail Ahmet; Tarhan, Özge; Özyeğin, Ateş

2017-01-01

Although vocal cord paralysis (VCP) following thyroidectomy is primarily associated with surgical trauma, it is not the sole etiology. Vocal cord paralysis following thyroidectomy can be caused by a vocal cord hematoma with an incidence of 1.4% due to direct injury during orotracheal intubation. In this article, we present a case of VCP caused by vocal cord hematoma. A 32-year-old male patient who has been receiving propylthiouracil treatment for toxic multinodular goiter since 10 years was admitted to our hospital to be operated because of persisting complaints. The patient was hospitalized for sutureless thyroidectomy after he became euthyroid. Preoperative fiberoptic laryngoscopy performed by the ear, nose, and throat department revealed bilaterally motile vocal folds and a completely open airway. Patient underwent sutureless total thyroidectomy with a vessel sealing device (Ligasure TM LF1212, Covidien, CO), and a minivac drainage system was placed in the thyroid lodge. On the morning of the first postoperative day, 50 mL of serosanguinous fluid was drained. The patient's voice was normal, and there was no ecchymosis. Postoperative fiberoptic laryngoscopy revealed a hematoma near the right vocal fold and paralysis of the right vocal fold; however, the airway was open. It should be kept in mind that VCP is not solely due to surgery but can also result from intubation, as observed in this case.

A rare case of non-surgical vocal cord paralysis: Vocal cord hematoma

PubMed Central

Arıkan, Akif Enes; Teksöz, Serkan; Bilgin, İsmail Ahmet; Tarhan, Özge; Özyeğin, Ateş

2017-01-01

Although vocal cord paralysis (VCP) following thyroidectomy is primarily associated with surgical trauma, it is not the sole etiology. Vocal cord paralysis following thyroidectomy can be caused by a vocal cord hematoma with an incidence of 1.4% due to direct injury during orotracheal intubation. In this article, we present a case of VCP caused by vocal cord hematoma. A 32-year-old male patient who has been receiving propylthiouracil treatment for toxic multinodular goiter since 10 years was admitted to our hospital to be operated because of persisting complaints. The patient was hospitalized for sutureless thyroidectomy after he became euthyroid. Preoperative fiberoptic laryngoscopy performed by the ear, nose, and throat department revealed bilaterally motile vocal folds and a completely open airway. Patient underwent sutureless total thyroidectomy with a vessel sealing device (LigasureTM LF1212, Covidien, CO), and a minivac drainage system was placed in the thyroid lodge. On the morning of the first postoperative day, 50 mL of serosanguinous fluid was drained. The patient’s voice was normal, and there was no ecchymosis. Postoperative fiberoptic laryngoscopy revealed a hematoma near the right vocal fold and paralysis of the right vocal fold; however, the airway was open. It should be kept in mind that VCP is not solely due to surgery but can also result from intubation, as observed in this case. PMID:29260141

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

PubMed

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Chiari I malformation with underlying pseudotumor cerebri: Poor symptom relief following posterior decompression surgery.

PubMed

Alnemari, Ahmed; Mansour, Tarek R; Gregory, Stephanie; Miller, William K; Buehler, Mark; Gaudin, Daniel

2017-01-01


 Pseudotumor cerebri (PTC) patients exhibit clear clinical signs and symptoms of higher intracranial pressure (ICP) without ventricular enlargement or mass lesions. The clinical picture of patients with PTC can sometimes be similar to that of Chiari Malformation type I (CMI). There is some evidence that Chiari I malformation and PTC may coexist, which raises the question of whether PTC is an idiopathic disease or a complication of posterior decompression surgery-treatment of choice for Chiari I malformation. A retrospective review of electronic medical records of patients diagnosed with PTC at the University of Toledo Medical Center (UTMC) was performed. The objective was to determine whether PTC patients had a concurrent diagnosis of Chiari I malformation and whether the diagnosis of PTC occurred before or after posterior decompression surgery. Out of the 8 eligible patient medical records reviewed, 5 patients diagnosed with PTC had undergone posterior decompression surgery for Chiari I malformation at anywhere from several days to three years prior to being diagnosed with PTC. The diagnosis of PTC was based on temporary symptomatic relief following lumbar puncture which also showed elevated CSF opening pressures. Finally, a VP shunt was placed in each of the 5 patients to relieve the elevated intracranial pressure which resulted in the complete resolution of the patients' symptoms. Our study focuses on patients who were diagnosed with and treated for CMI then reported back to the clinic within several days to three years complaining of symptoms of headache. Upon re-presenting to the clinic, a CSF flow study was performed which showed normal flow of CSF. Then, these patients underwent a lumbar puncture which demonstrated an elevated opening pressure (and ICP) and a temporary relief of the headache with lumbar drainage. A VP shunt was placed for each patient to treat for PTC, and the patients' headaches were relieved. This study suggests that the presence of

Spinal cord injury - Symptoms and causes

MedlinePlus

... are the leading cause of spinal cord injuries, accounting for almost half of new spinal cord injuries ... address these problems if they affect you. Respiratory system. Your injury may make it more difficult to ...

Pharmaceutical counselling about different types of tablet-splitting methods based on the results of weighing tests and mechanical development of splitting devices.

PubMed

Somogyi, O; Meskó, A; Csorba, L; Szabó, P; Zelkó, R

2017-08-30

The division of tablets and adequate methods of splitting them are a complex problem in all sectors of health care. Although tablet-splitting is often required, this procedure can be difficult for patients. Four tablets were investigated with different external features (shape, score-line, film-coat and size). The influencing effect of these features and the splitting methods was investigated according to the precision and "weight loss" of splitting techniques. All four types of tablets were halved by four methods: by hand, with a kitchen knife, with an original manufactured splitting device and with a modified tablet splitter based on a self-developed mechanical model. The mechanical parameters (harness and friability) of the products were measured during the study. The "weight loss" and precision of splitting methods were determined and compared by statistical analysis. On the basis of the results, the external features (geometry), the mechanical parameters of tablets and the mechanical structure of splitting devices can influence the "weight loss" and precision of tablet-splitting. Accordingly, a new decision-making scheme was developed for the selection of splitting methods. In addition, the skills of patients and the specialties of therapy should be considered so that pharmaceutical counselling can be more effective regarding tablet-splitting. Copyright © 2017 Elsevier B.V. All rights reserved.

Congenital Malformations of the Central Nervous System in Rural Western Honduras: A 6-Year Report on Trends.

PubMed

Estevez-Ordonez, Dagoberto; Dewan, Michael C; Feldman, Michael J; Montalvan-Sanchez, Eleazar E; Montalvan-Sanchez, Daniela M; Rodriguez-Murillo, Aida A; Urrutia-Argueta, Samuel A; Cherry, Charlotte B; Morgan, Douglas R; Alvarez-Rodriguez, Roberto; Bonfield, Christopher M

2017-11-01

Central nervous system (CNS) malformations, including neural tube defects (NTDs), are the second most common type of birth defects worldwide and are major causes of childhood disability and mortality. We report the first analysis of birth prevalence in Western Honduras of CNS malformations including NTDs over 6 consecutive years. Data from all patients with congenital CNS malformations and total live births for the period 2010-2015 were obtained through institution and regional registries from all 3 public referral hospitals in Western Honduras, representing 67 municipalities. Cases were identified using the International Classification of Diseases, Tenth Revision CNS malformation codes. Birth prevalence was calculated as cases per 10,000 live births. From 123,903 live births, 275 cases of CNS malformations were identified (54% females, 58% NTDs). Six-year birth prevalence of CNS malformations was 13.9-31.1. Spina bifida variants and anencephaly represented 80% and 19% of reported NTDs, respectively. Total 6-year prevalence of NTDs in Western Honduras was 7.0-17.4 over years studied. In 6 municipalities, average prevalence was >30 (maximum 49.0). This is the first study reporting disease burden of CNS malformations in Western Honduras. The nationwide birth prevalence of NTDs in rural Honduras may have decreased since the implementation of prenatal health policies in 2005. However, we identified regions with unexpectedly elevated prevalence, indicating high regional prevalence that could be targeted for improved preventive efforts, ultimately decreasing the burden of these conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

PubMed

Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

2018-06-01

Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

A transpubic approach for reconstructive surgery of genitourinary injuries and congenital malformations.

PubMed

Kaliciński, Z H; Bokwa, T; Perdzyński, W; Zarzycka-Szcerbowska, E; Harnik, M; Rybałko, W

1997-09-01

Four children were operated on by the transpubic approach for injury to the vagina or urethra and to correct malformations within the pelvis minor. One boy had posttraumatic stricture of the urethra, and a girl presented with disruption of the urethra and vagina. One of two boys who had congenital malformations was treated for epispadias and incontinence; the other for a large urethral diverticulum caused by anal atresia. Total reconstruction was achieved, and no complications of symphysis restoration were observed.

Coiling of a vulvar arterio-venous malformation.