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Sample records for congenital constriction band

  1. Amniotic constriction bands

    Science.gov (United States)

    ... of function of an arm or a leg. Congenital bands affecting the hand often cause the most problems. Alternative Names Pseudo-ainhum; Streeter dysplasia; Amniotic band sequence; Amniotic constriction bands; Constriction band ...

  2. A rare combination of amniotic constriction band with osteogenesis imperfecta.

    Science.gov (United States)

    Shah, Krupa Hitesh; Shah, Hitesh

    2015-11-11

    Amniotic constriction bands and osteogenesis imperfecta are disorders arising from a collagen defect. We report a rare association of amniotic bands with osteogenesis imperfecta in a child. The child was born with multiple amniotic bands involving the right leg, both hands and both feet. Multiple fractures of long bones of lower limbs occurred in childhood due to trivial trauma. Deformities of the femur and tibia due to malunion with osteopenia and blue sclerae were present. The patient was treated with z plasty of constriction band of the right tibia and bisphosphonate for osteogenesis imperfecta. This rare association of both collagen diseases may provide further insight for the pathogenesis of these diseases.

  3. Endoscopic release of limb constriction rings in utero.

    Science.gov (United States)

    Ronderos-Dumit, D; Briceño, F; Navarro, H; Sanchez, N

    2006-01-01

    Amniotic band syndrome is a sporadic condition that may result in constriction bands, amputation and multiple craniofacial, visceral and body wall defects. It occurs in 1/1,200 to 1/15,000 live births. Most cases present with multiple congenital anomalies that are incompatible with life. A small group of fetuses shows isolated limb constrictions that may cause severe limb dysfunction or limb amputation if left untreated. Successful in utero surgical lyses of constriction rings have been reported. We report a case of constriction amniotic bands involving both legs and compromising blood flow to the distal extremity. The constriction ring was successfully released by a minimally invasive endoscopic surgical technique avoiding severe limb dysfunction or foot amputation.

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

    Science.gov (United States)

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

    2013-05-01

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

  5. Diagnosis and Treatment of Small Bowel Strangulation Due To Congenital Band: Three Cases of Congenital Band in Adults Lacking a History of Trauma or Surgery

    Science.gov (United States)

    Nicolas, Gregory; Kfoury, Tony; Shimlati, Rasha; Koury, Elliott; Tohme, Maroon; Gharios, Elie; Wakim, Raja

    2016-01-01

    Case series Patients: Male, 33 • Male, 18 • Male, 19 Final Diagnosis: Congenital band causing a small bowel obstruction Symptoms: Progressive abdominal pain that eventually becomes excessive Medication: — Clinical Procedure: Laparoscopic band removal Specialty: Surgery Objective: Rare disease Background: Among the causes of constipation are bands and adhesions that lead to obstructions at different points in the intestinal tract. These can occur as a consequence of healing following surgery or trauma. However, an entity known as congenital band exists where a band is present from birth. Here we report three such cases of adults with symptoms of intestinal obstruction, in whom a congenital band was discovered through exploratory laparoscopy. Case Reports: All three of these patients presented lacking a history of any abdominal trauma or previous abdominal surgeries, a fact that is often used to exclude an adhesion as a differential. All three recovered quickly and had relief of their symptoms following surgical intervention. Conclusions: Bands and adhesions are common surgical causes of small bowel obstruction, leading to symptoms such as nausea, vomiting, constipation, and obstipation. These bands almost always result from a prior abdominal surgery or from a recent abdominal trauma. The three cases presented here show a far more unusual picture of a band, one that is congenitally present, as there was an absence of such a history. This is significant because clinical suspicion of a band is often very low due to a lack of distinguishing clinical and diagnostic features, and when the past history is negative. PMID:27713389

  6. Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.

    Science.gov (United States)

    Temtamy, Samia A; Aglan, Mona S; Ashour, Adel M; El-Badry, Tarek H

    2010-01-01

    In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies.

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

    NARCIS (Netherlands)

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

    2003-01-01

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

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

    NARCIS (Netherlands)

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

    2003-01-01

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

  9. Sigmoid volvulus in 16-year-old boy with an associated anomalous congenital band.

    Science.gov (United States)

    Albert, Ann A; Nolan, Tracy L; Weidner, Bryan C

    2013-11-01

    Sigmoid volvulus, a condition generally seen in debilitated elderly patients, is extremely rare in the pediatric age group. Frequent predisposing conditions that accompany pediatric sigmoid volvulus include intestinal malrotation, omphalomesenteric abnormalities, Hirschsprung's disease, imperforate anus and chronic constipation. A 16-year-old previously healthy African American male presented with a 12 hour history of sudden onset abdominal pain and intractable vomiting. CT was consistent with sigmoid volvulus. A contrast enema did not reduce the volvulus, but it was colonoscopically reduced. Patient condition initially improved after colonoscopy, but he again became distended with abdominal pain, so he was taken to the operating room. On exploratory laparotomy, a band was discovered where the mesenteries of the sigmoid and small bowel adhered and created a narrow fixation point around which the sigmoid twisted. A sigmoidectomy with primary anastomosis was performed. The diagnosis of sigmoid volvulus may be more difficult in children, with barium enema being the most consistently helpful. Seventy percent of cases do not involve an associated congenital problem, suggesting that some pediatric patients may have congenital redundancy of the sigmoid colon and elongation of its mesentery. The congenital band found in our patient was another potential anatomic factor that led to sigmoid volvulus. Pediatric surgeons, accustomed to unusual problems in children, may thus encounter a condition generally found in the debilitated elderly patient.

  10. Familial ainhum: A case report of multiple toe involvement in a father and son, staging of ainhum with insight into different types of constricting bands

    Directory of Open Access Journals (Sweden)

    B T Priya

    2015-01-01

    Full Text Available Ainhum, also known as dactylolysis spontanea, is a painful constriction of the base of the fifth toe, frequently followed by spontaneous amputation a few years later. The disease is often symmetrical on both the feet, but, occasionally, other toes are also affected and rarely the distal phalanx of the fifth finger. Pseudoainhum is a similar condition that occurs as a secondary event resulting from certain hereditary and nonhereditary diseases that lead to annular constriction of digits. We hereby present a case of familial ainhum in father and son with multiple toes affected, autoamputation, and more involvement of fourth toe than the fifth toe, which is a very rare finding.

  11. Familial ainhum: a case report of multiple toe involvement in a father and son, staging of ainhum with insight into different types of constricting bands.

    Science.gov (United States)

    Priya, Bt; Suganthy, Rajakumari R; Manimegalai, M; Krishnaveni, A

    2015-01-01

    Ainhum, also known as dactylolysis spontanea, is a painful constriction of the base of the fifth toe, frequently followed by spontaneous amputation a few years later. The disease is often symmetrical on both the feet, but, occasionally, other toes are also affected and rarely the distal phalanx of the fifth finger. Pseudoainhum is a similar condition that occurs as a secondary event resulting from certain hereditary and nonhereditary diseases that lead to annular constriction of digits. We hereby present a case of familial ainhum in father and son with multiple toes affected, autoamputation, and more involvement of fourth toe than the fifth toe, which is a very rare finding.

  12. Preventing misdiagnosis in amniotic band sequence: a case report

    OpenAIRE

    Cristiane Rúbia Ferreira; Cibelle Freitas Pinto Lima; Ana Maria Andrello Gonçalves Pereira de Melo

    2013-01-01

    Amniotic band sequence (ABS) is an uncommon and heterogeneous congenital disorder caused by entrapment of fetal parts by fibrous amniotic bands, causing distinctive structural abnormalities involving limbs, trunk, and craniofacial regions. The incidence ranges between 1/1200 and 1/15,000 live births, but is higher in stillbirths and previable fetuses. The intrinsic theory attributes the constriction band syndrome as an inherent development defect of embryogenesis while the extrinsic theory pr...

  13. Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum.

    Science.gov (United States)

    Maruyama, Koichi; Okumura, A; Negoro, T; Watanabe, K

    2010-06-01

    The simultaneous appearance of congenital infiltrating lipomatosis of the face that causes facial hemihypertrophy and ipsilateral hemimegalencephaly is extremely rare. We report a 4-year-old boy with congenital facial asymmetry and infantile-onset epilepsy. Magnetic resonance imaging (MRI) results led to the diagnosis of infiltrating lipomatosis of the face; the diagnosis was confirmed on the basis of the results of pathological examinations. Additionally, brain MRI revealed ipsilateral hemimegalencephaly, associated with band heterotopia and the hemihypertrophy of the ipsilateral brainstem and cerebellum. He had no nevi or other skin abnormalities suggesting neurocutaneous syndrome. His seizures were so intractable that they necessitated functional hemispherectomy. The lipomatous lesion was successfully resected without relapse. Psychomotor delay and left hemiplegia were observed at the last follow-up. © Georg Thieme Verlag KG Stuttgart · New York.

  14. Hydralazine-induced constrictive pericarditis

    NARCIS (Netherlands)

    Franssen, CFC; ElGamal, MIH; Gans, ROB; Hoorntje, SJ

    1996-01-01

    A 59-year-old man was diagnosed as having constrictive pericarditis 17 months after a typical hydralazine-induced autoimmune syndrome, This late complication of hydralazine has been reported only once. Ten years later the patient was found to have anti-neutrophil cytoplasmic antibodies directed agai

  15. Classification of the pattern of intrauterine amputations of the upper limb in constriction ring syndrome.

    Science.gov (United States)

    Al-Qattan, M M

    2000-06-01

    Twenty patients with congenital upper limb amputations caused by constriction rings were reviewed to classify the pattern of these amputations. In the 20 patients studied, 31 upper limbs had congenital amputations. The pattern of amputation was classified into three types. Proximal upper limb amputation was considered type I and was only seen in one limb. The most common pattern of amputation was digital amputation associated with "coning" or "superimposition" of the digits (type II) and was seen in 20 hands. Type II amputations were subclassified according to the involvement of all, ulnar, radial, or central digits by the constriction ring. In type III amputations (N = 10 limbs), there was no associated coning or superimposition of the digits. This type of amputation was subclassified into type IIIA (multiple-digit amputations within the same hand) and type III B (single-digit amputation). Associated anomalies are reviewed and the pathogenesis of constriction rings is discussed.

  16. [Amniotic band sequence and bilateral choanal atresia: a case report].

    Science.gov (United States)

    Del Toro-Valero, Azucena; Estrada-De la Fuente, Alejandro; Velázquez Santana, Héctor; Glicerio González, Jorge; Navarro Meza, María Cristina; Ortega-Hinojosa, Lilia; López-Cardona, María Guadalupe

    2011-08-01

    Amniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fingers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknown and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached finding, and review possible causes of SBA and associated alterations.

  17. MR imaging in congenital lower limb deformities

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

    1996-06-01

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

  18. Preventing misdiagnosis in amniotic band sequence: a case report

    Directory of Open Access Journals (Sweden)

    Cristiane Rúbia Ferreira

    2013-03-01

    Full Text Available Amniotic band sequence (ABS is an uncommon and heterogeneous congenital disorder caused by entrapment of fetal parts by fibrous amniotic bands, causing distinctive structural abnormalities involving limbs, trunk, and craniofacial regions. The incidence ranges between 1/1200 and 1/15,000 live births, but is higher in stillbirths and previable fetuses. The intrinsic theory attributes the constriction band syndrome as an inherent development defect of embryogenesis while the extrinsic theory proposes that an early amnion rupture is responsible for the adherent bands. It is also suggested that amputations and constriction rings might be due to vascular disturbances. Anomalies resulting from amniotic bands are quite variable and sometimes may simulate chromosomal abnormalities. The authors report a case of a 36-week-gestation male neonate who lived for 29 hours after a vaginal delivery with an Apgar score of 8/9/9. The mother was primipara, and the prenatal was uneventful except for two episodes of urinary tract infections. The newborn examination depicted multiple anomalies characterized by exencephaly, bilateral labial cleft with distorted nostrils and palate cleft. There was also facial skin tag band, exophthalmos with hypoplasia of the eyelids. The limbs showed distal amputation of the fingers in both hands and feet, oligodactyly associated with syndactyly in the left foot, ring constriction in the right leg, the presence of right hyperextension, and clubfoot. The upper limbs showed length discrepancies. Karyotype analysis was normal at 46 XY. The authors conclude that the recognition of the malformations secondary to ABS is important in genetic counseling to prevent misdiagnosis between chromosomal and secondary disruption disorders.

  19. The role of gamma-band activity in the representation of faces: reduced activity in the fusiform face area in congenital prosopagnosia.

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    Christian Dobel

    Full Text Available BACKGROUND: Congenital prosopagnosia (CP describes an impairment in face processing that is presumably present from birth. The neuronal correlates of this dysfunction are still under debate. In the current paper, we investigate high-frequent oscillatory activity in response to faces in persons with CP. Such neuronal activity is thought to reflect higher-level representations for faces. METHODOLOGY: Source localization of induced Gamma-Band Responses (iGBR measured by magnetoencephalography (MEG was used to establish the origin of oscillatory activity in response to famous and unknown faces which were presented in upright and inverted orientation. Persons suffering from congenital prosopagnosia (CP were compared to matched controls. PRINCIPAL FINDINGS: Corroborating earlier research, both groups revealed amplified iGBR in response to upright compared to inverted faces predominately in a time interval between 170 and 330 ms and in a frequency range from 50-100 Hz. Oscillatory activity upon known faces was smaller in comparison to unknown faces, suggesting a "sharpening" effect reflecting more efficient processing for familiar stimuli. These effects were seen in a wide cortical network encompassing temporal and parietal areas involved in the disambiguation of homogenous stimuli such as faces, and in the retrieval of semantic information. Importantly, participants suffering from CP displayed a strongly reduced iGBR in the left fusiform area compared to control participants. CONCLUSIONS: In sum, these data stress the crucial role of oscillatory activity for face representation and demonstrate the involvement of a distributed occipito-temporo-parietal network in generating iGBR. This study also provides the first evidence that persons suffering from an agnosia actually display reduced gamma band activity. Finally, the results argue strongly against the view that oscillatory activity is a mere epiphenomenon brought fourth by rapid eye-movements (micro

  20. Gas arc constriction for plasma arc welding

    Science.gov (United States)

    McGee, William F. (Inventor); Rybicki, Daniel J. (Inventor)

    1994-01-01

    A welding torch for plasma arc welding apparatus has an inert gas applied circumferentially about the arc column externally of the constricting nozzle so as to apply a constricting force on the arc after it has exited the nozzle orifice and downstream of the auxiliary shielding gas. The constricting inert gas is supplied to a plenum chamber about the body of the torch and exits through a series of circumferentially disposed orifices in an annular wall forming a closure at the forward end of the constricting gas plenum chamber. The constricting force of the circumferential gas flow about the arc concentrates and focuses the arc column into a more narrow and dense column of energy after exiting the nozzle orifice so that the arc better retains its energy density prior to contacting the workpiece.

  1. 'End-stage' heart failure therapy: potential lessons from congenital heart disease: from pulmonary artery banding and interatrial communication to parallel circulation.

    Science.gov (United States)

    Schranz, Dietmar; Akintuerk, Hakan; Voelkel, Norbert F

    2017-02-15

    The final therapy of 'end-stage heart failure' is orthotopic heart, lung or heart-lung transplantation. However, these options are not available for many patients worldwide. Therefore, novel therapeutical strategies are needed. Based on pathophysiological insights regarding (1) the long-term impact of an obstructive pulmonary outflow tract in neonates with congenitally corrected transposition of the great arteries, (2) the importance of a restrictive versus a non-restrictive atrial septum in neonates born with a borderline left ventricle and (3) the significance of both, a patent foramen ovale and/or open ductus arteriosus for survival of newborns with persistent pulmonary hypertension, the current review introduces some therapeutical strategies that may be applicable to selected patients with heart failure. These strategies include (1) reversible pulmonary artery banding in left ventricular-dilated cardiomyopathy with preserved right ventricular function, (2) the creation of restrictive interatrial communication to treat diastolic (systolic) heart failure, (3) atrioseptostomy or reverse Potts shunt in pulmonary arterial hypertension and (4) return to a fetal, parallel circulation by combining atrioseptostomy and reversed Potts shunt with or without placement of a bilateral pulmonary artery banding. While still being experimental, it is hoped that the procedures presented in the current overview will inspire future novel therapeutic strategies that may be applicable to selected patients with heart failure. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  2. Novel Model of Pulmonary Artery Banding Leading to Right Heart Failure in Rats

    OpenAIRE

    Masataka Hirata; Daiki Ousaka; Sadahiko Arai; Michihiro Okuyama; Suguru Tarui; Junko Kobayashi; Shingo Kasahara; Shunji Sano

    2015-01-01

    Background. Congenital heart diseases often involve chronic pressure overload of the right ventricle (RV) which is a major cause of RV dysfunction. Pulmonary artery (PA) banding has been used to produce animal models of RV dysfunction. We have devised a new and easier method of constricting the PA and compared it directly with the partial ligation method. Methods. Eight-week-old male Sprague-Dawley rats (240–260 g) were divided into three groups: sham operation, partial pulmonary artery ligat...

  3. Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case

    Directory of Open Access Journals (Sweden)

    Carolina Cortez-Ortega

    2017-01-01

    Full Text Available Amniotic Band Syndrome (ABS is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate.

  4. Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case

    Science.gov (United States)

    Cortez-Ortega, Carolina; Flores-Velázquez, Joselín; Ruiz-Rodríguez, Socorro; Noyola-Frías, Miguel Ángel; Santos-Díaz, Miguel Ángel

    2017-01-01

    Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate. PMID:28246561

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

    Science.gov (United States)

    Kroes, H Y; Pals, G; van Essen, A J

    2003-03-01

    A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an esophageal atresia and hydrocephaly. Protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. However, DNA analysis of the COL3A1 gene revealed a pathogenic mutation (388G-->T) in both the mother and the son. The possible relationship between the observed congenital anomalies and EDS IV are discussed. We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis. Copyright Blackwell Munksgaard, 2003

  6. Therapeutic Method of Congenital Talipe Equino Varus Complicated With Same Lateral Leg Distal Circular Constriction Band%先天性马蹄内翻足合并同侧小腿远端环状束带的治疗

    Institute of Scientific and Technical Information of China (English)

    刘宏; 梅海波; 唐进; 刘昆; 刘喜平

    2005-01-01

    目的探讨先天性马蹄内翻足合并小腿环状束带的治疗方法.方法对7例患儿共12足进行手术治疗,马蹄内翻足的矫治均采用改良Turco手术,根据环状束带的严重程度确定手术方法.结果Ⅰ期手术治疗4例共7足,5足临床效果满意;伤口皮肤裂开2足,并且出现足畸形反弹.分期手术3例共5足,1例双足畸形先行马蹄内翻足矫治,结果出现束带部位伤口裂开,足的矫正效果回弹;另3足先行环状束带松解,2足临床效果满意,1足尚未行Ⅱ期马蹄内翻足矫治.结论对于Ⅰ型和Ⅱ型环状束带可Ⅰ期手术治疗,手术后应进行高压氧治疗;Ⅲ型环状束带应该分期手术,先进行环状束带松解,再进行马蹄内翻足矫治.

  7. Intrasaccadic perception triggers pupillary constriction

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    Sebastiaan Mathôt

    2015-08-01

    Full Text Available It is commonly believed that vision is impaired during saccadic eye movements. However, here we report that some visual stimuli are clearly visible during saccades, and trigger a constriction of the eye’s pupil. Participants viewed sinusoid gratings that changed polarity 150 times per second (every 6.67 ms. At this rate of flicker, the gratings were perceived as homogeneous surfaces while participants fixated. However, the flickering gratings contained ambiguous motion: rightward and leftward motion for vertical gratings; upward and downward motion for horizontal gratings. When participants made a saccade perpendicular to the gratings’ orientation (e.g., a leftward saccade for a vertical grating, the eye’s peak velocity matched the gratings’ motion. As a result, the retinal image was approximately stable for a brief moment during the saccade, and this gave rise to an intrasaccadic percept: A normally invisible stimulus became visible when eye velocity was maximal. Our results confirm and extend previous studies by demonstrating intrasaccadic perception using a reflexive measure (pupillometry that does not rely on subjective report. Our results further show that intrasaccadic perception affects all stages of visual processing, from the pupillary response to visual awareness.

  8. Pressure Change in an Arterial Constriction

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    Mungan, Carl E.

    2015-01-01

    Consider the following ConcepTest. A platelet is drifting with the blood flowing through a horizontal artery. As the platelet enters a constriction, does the blood pressure increase, decrease, or stay the same?

  9. Constrictive Pericarditis: A Challenging Diagnosis in Paediatrics

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    Mariana Faustino

    2015-01-01

    Full Text Available Constrictive pericarditis is an uncommon disease in children, usually difficult to diagnose. We present the case of a 14-year-old boy with a previous history of tuberculosis and right heart failure, in whom constrictive pericarditis was diagnosed. The case highlights the need to integrate all information, including clinical data, noninvasive cardiac imaging, and even invasive hemodynamic evaluation when required, in order to establish the correct diagnosis and proceed to surgical treatment.

  10. Hour glass constriction in advanced carpal tunnel syndrome

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    Mohammad Dehghani

    2013-01-01

    Conclusion: We recommend epineurolysis for mild to moderate constriction and also end-to-end repair may be needed if extensive and severe constriction was found. It means that if we manage mild to moderate constriction sooner, it can prevent the need for further surgical procedure because of sever constriction.

  11. Congenital Hypothyroidism

    Science.gov (United States)

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

  12. Nanoscale constrictions in superconducting coplanar waveguide resonators

    Energy Technology Data Exchange (ETDEWEB)

    Jenkins, Mark David; Naether, Uta; Ciria, Miguel; Zueco, David; Luis, Fernando, E-mail: fluis@unizar.es [Instituto de Ciencia de Materiales de Aragón, CSIC—Universidad de Zaragoza, 50009 Zaragoza (Spain); Departamento de Física de la Materia Condensada, Universidad de Zaragoza, 50009 Zaragoza (Spain); Sesé, Javier [Instituto de Nanociencia de Aragón, Universidad de Zaragoza, E-50009 Zaragoza (Spain); Departamento de Física de la Materia Condensada, Universidad de Zaragoza, 50009 Zaragoza (Spain); Atkinson, James; Barco, Enrique del [Department of Physics, University of Central Florida, Orlando, Florida 32816 (United States); Sánchez-Azqueta, Carlos [Dpto. de Ingeniería Electrónica y Telecomunicaciones, Universidad de Zaragoza, 50009 Zaragoza (Spain); Majer, Johannes [Vienna Center for Quantum Science and Technology, Atominstitut, TU Wien, 1020 Vienna (Austria)

    2014-10-20

    We report on the design, fabrication, and characterization of superconducting coplanar waveguide resonators with nanoscopic constrictions. By reducing the size of the center line down to 50 nm, the radio frequency currents are concentrated and the magnetic field in its vicinity is increased. The device characteristics are only slightly modified by the constrictions, with changes in resonance frequency lower than 1% and internal quality factors of the same order of magnitude as the original ones. These devices could enable the achievement of higher couplings to small magnetic samples or even to single molecular spins and have applications in circuit quantum electrodynamics, quantum computing, and electron paramagnetic resonance.

  13. Constrictive Pericarditis Associated with Atypical Antipsychotics

    Directory of Open Access Journals (Sweden)

    Kuan-chin Jean Chen

    2012-01-01

    Full Text Available We report the successful surgical intervention in a case of constrictive pericarditis after long-term use of atypical antipsychotics. Pericarditis developed in our patient with a longstanding history of schizophrenia treated with atypical antipsychotics. Pericardiectomy was undertaken, and the patient's presenting symptom of shortness of breath resolved subsequently with an uneventful postoperative course.

  14. Pregnancy complicating irradiation-induced constrictive pericarditis

    Energy Technology Data Exchange (ETDEWEB)

    Bakri, Younes N.; Martan, Ahmed; Amri, Aladin (King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia). Dept. of Obstetrics and Gynecology); Amri, M. (King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia). Dept. of Cardiovascular Diseases)

    1992-01-01

    A case is reported of a 24 year-old primigravida who had severe effusive constrictive pericarditis secondary to mediastinal irradiation following chemotherapy for Hodgkins disease. Pregnancy was threatened by serious maternal cardiovascular complications and a non-viable fetus was born spontaneously and prematurely. Patient was completely asymptomatic before pregnancy. (au).

  15. Follow-up of vacuum and nonvacuum constriction devices as treatments for erectile dysfunction.

    Science.gov (United States)

    Schuetz-Mueller, D; Tiefer, L; Melman, A

    1995-01-01

    Of 20 men evaluated for erectile dysfunction (ED) for whom vacuum erection devices or constriction bands were recommended, only four experienced improvement of their erectile function by using the specific suggested method. Although use of a simple constriction band mechanism (e.g., a rubber band wound tightly around the penis) for men with brief erectile capacity has been described as a viable treatment, only one of five men who tried using it achieved any success. Three of six men who used a vacuum erection device were helped by it, particularly the men who suffered from only partial ED. Most patients did not follow through with the recommended treatment and stopped sexual activity, or belatedly returned for intracavernosal injections. The interviews revealed the pervasive influence of shame and demoralization regarding erectile problems, the importance of evaluation and treatment follow-up, and the necessity for careful, explicit, extensive, and concrete explanations and instructions regarding treatment options.

  16. Vowel constrictions are recoverable from formants.

    Science.gov (United States)

    Iskarous, Khalil

    2010-07-01

    The area function of the vocal tract in all of its spatial detail is not directly computable from the speech signal. But is partial, yet phonetically distinctive, information about articulation recoverable from the acoustic signal that arrives at the listener's ear? The answer to this question is important for phonetics, because various theories of speech perception predict different answers. Some theories assume that recovery of articulatory information must be possible, while others assume that it is impossible. However, neither type of theory provides firm evidence showing that distinctive articulatory information is or is not extractable from the acoustic signal. The present study focuses on vowel gestures and examines whether linguistically significant information, such as the constriction location, constriction degree, and rounding, is contained in the speech signal, and whether such information is recoverable from formant parameters. Perturbation theory and linear prediction were combined, in a manner similar to that in Mokhtari (1998) [Mokhtari, P. (1998). An acoustic-phonetic and articulatory study of speech-speaker dichotomy. Doctoral dissertation, University of New South Wales], to assess the accuracy of recovery of information about vowel constrictions. Distinctive constriction information estimated from the speech signal for ten American English vowels were compared to the constriction information derived from simultaneously collected X-ray microbeam articulatory data for 39 speakers [Westbury (1994). Xray microbeam speech production database user's handbook. University of Wisconsin, Madison, WI]. The recovery of distinctive articulatory information relies on a novel technique that uses formant frequencies and amplitudes, and does not depend on a principal components analysis of the articulatory data, as do most other inversion techniques. These results provide evidence that distinctive articulatory information for vowels can be recovered from the

  17. Transient Constrictive Pericarditis: Current Diagnostic and Therapeutic Strategies.

    Science.gov (United States)

    Gentry, James; Klein, Allan L; Jellis, Christine L

    2016-05-01

    Transient constrictive pericarditis is increasingly recognized as a distinct sub-type of constrictive pericarditis. The underlying pathophysiology typically relates to impaired pericardial distensibility, associated with acute or sub-acute inflammation, rather than the fibrosis or calcification often seen in chronic pericardial constriction. Accordingly, patients may present clinically with concomitant features of pericarditis and constrictive physiology. Non-invasive multimodality imaging is advocated for diagnosis of transient constrictive pericarditis. Echocardiography remains the mainstay for initial evaluation of the dynamic features of constriction. However, cardiac magnetic resonance imaging can provide complimentary functional information, with the addition of dedicated sequences to assess for active pericardial edema and inflammation. Although transient pericardial constriction can spontaneously resolve, institution of anti-inflammatory therapy may hasten resolution or even prevent progression to chronic pericardial constriction. Non-steroidal anti-inflammatory agents remain the initial treatment of choice, with subsequent consideration of colchicine, steroids, and other immune-modulating agents in more refractory cases.

  18. Constrictive pericarditis in a renal transplant recipient with tuberculosis.

    Science.gov (United States)

    Sreejith, P; Kuthe, S; Jha, V; Kohli, H S; Rathi, M; Gupta, K L; Sakhuja, V

    2010-07-01

    Tuberculosis is a common cause of pericarditis in the developing countries and constrictive pericarditis is a serious sequel. There are only three cases of constrictive pericarditis in kidney transplant recipients previously reported in literature. Here, we report a case of constrictive pericarditis developing in a renal transplant recipient while on antituberculous therapy for tuberculous pleural effusion.

  19. Amniotic band syndrome (ABS): can something be done during pregnancy in African poor countries? Three cases and review of the literature.

    Science.gov (United States)

    Mian, D B; Nguessan, K L P; Aissi, G; Boni, S

    2014-01-01

    Amniotic band syndrome (ABS) is a fetal congenital malformation, affecting mainly the limbs, but also the craniofacial area and internal organs. Two mains pathogenic mechanisms are proposed in its genesis. Firstly the early amnion rupture (exogenous theory) leading to fibrous bands, which wrap up the fetal body; secondly, the endogenous theory privileges vascular origin, mesoblastic strings not being a causal agent. The authors believe that the second theory explain the occurrence of ABS. The outcome of the disease during pregnancy depends on the gravity of the malformations. Interruption of the pregnancy is usually proposed when diagnosis of severe craniofacial and visceral abnormalities is confirmed. Whereas minor limb defects can be repaired with postnatal surgery. In case of an isolated amniotic band with a constricted limb, in utero lysis of the band can be considered to avoid a natural amputation. In an African country, such treatment is not possible as far as the antenatal diagnosis.

  20. Congenital Hypothyroidism

    Science.gov (United States)

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

  1. Imaging features of constrictive pericarditis: beyond pericardial thickening

    Energy Technology Data Exchange (ETDEWEB)

    Napolitano, G.; Pressacco, J.; Paquet, E. [Dept. of Radiology, Montreal Heart Inst., Montreal, Quebec (Canada)], E-mail: napolitanog@hotmail.com

    2009-02-15

    Constrictive pericarditis is caused by adhesions between the visceral and parietal layers of the pericardium and progressive pericardial fibrosis that restricts diastolic filling of the heart. Later on, the thickened pericardium may calcify. Despite a better understanding of the pathophysiologic basis of the imaging findings in constrictive pericarditis and the recent advent of magnetic resonance imaging (MRI) technology, which has dramatically improved the visualization of the pericardium, the diagnosis of constrictive pericarditis remains a challenge in many cases. In patients with clinical suspicion of underlying constrictive pericarditis, the most important radiologic diagnostic feature is abnormal pericardial thickening, which can be shown readily by computed tomography (CT) and especially by MRI, and is highly suggestive of constrictive pericarditis. Nevertheless, a thickened pericardium does not always indicate constrictive pericarditis. Furthermore, constrictive pericarditis can occur without pericardial thickening. (author)

  2. Modified constriction particle swarm optimization algorithm

    Institute of Scientific and Technical Information of China (English)

    Zhe Zhang; Limin Jia; Yong Qin

    2015-01-01

    To deal with the demerits of constriction particle swarm optimization (CPSO), such as relapsing into local optima, slow convergence velocity, a modified CPSO algorithm is proposed by improving the velocity update formula of CPSO. The random ve-locity operator from local optima to global optima is added into the velocity update formula of CPSO to accelerate the convergence speed of the particles to the global optima and reduce the likeli-hood of being trapped into local optima. Final y the convergence of the algorithm is verified by calculation examples.

  3. Futility of pericardiectomy for postirradiation constrictive pericarditis

    Energy Technology Data Exchange (ETDEWEB)

    Ni, Y.; von Segesser, L.K.; Turina, M. (University Hospital, Zuerich (Switzerland))

    1990-03-01

    Two patients underwent pericardiectomy for postirradiation constrictive pericarditis. Both had received radiotherapy (more than 6,000 rads) for treatment of Hodgkin's disease 17 (patient 2) and 20 years (patient 1) earlier. At the time of operation, the patients were in New York Heart Association functional class III-IV or IV. Preoperative catheterization showed the following pressures for patients 1 and 2, respectively: right atrial, 30 and 14 mm Hg; right ventricular end-diastolic, 28 and 14 mm Hg; wedge, 29 and 13 mm Hg; and left ventricular end-diastolic, 27 and 14 mm Hg. Complete epicardiectomy and pericardiectomy was attempted in both patients. However, hospital mortality was 100%; patient 1 died of multiorgan failure after six days, and patient 2 died of biventricular failure after 3 months. A review of the literature revealed 44 cases of pericardiectomy for postirradiation constrictive pericarditis and a late survival rate of less than 50%. The poor results in these patients compared with patients having pericardiectomy for other reasons seem to be due mainly to the various kinds of radiation-induced damage to the heart as a whole, including untimely coronary artery disease, myocardial fibrosis, atrioventricular conduction disturbances, and valve dysfunction, with the result that complete relief by epicardiectomy and pericardiectomy may not be technically feasible. 13 references.

  4. Constrictive pericarditis following mediastinal radiation therapy

    Energy Technology Data Exchange (ETDEWEB)

    Coffee, M.A.; Hamman, J.L.

    1977-02-01

    In recent years, an increasing number of patients with neoplastic disease have received aggressive radiation therapy to the mediastinum. Following this therapy as many as 30% of patients develop pericarditis with effusion, which may later severely compromise cardiovascular function because of constriction and/or tamponade. In a retrospective study, Martin et al found either transient or persistent pericardial effusion in 24 of 81 patients with Hodgkin's disease, Stages I-III B, who underwent upper mantle radiation. Five of the 24 patients eventually required pericardiectomy for signs and symptoms of cardiac tamponade. Most of the retrospective studies of heart disease following radiation therapy demonstrate an increased incidence of cardiac involvement following high doses (over 4000 rads) to the mediastinum; however, acute pericarditis, restrictive disease, and even myocardial infarctions have occurred with a total dose of less than 4000 rads.

  5. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

    Directory of Open Access Journals (Sweden)

    A. Shahla

    2008-06-01

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

  6. Maxillary first premolars: I. Morphology of the apical constriction

    Institute of Scientific and Technical Information of China (English)

    Daming Wu; Younong Wu; Ming Hu

    2009-01-01

    Objective: To investigated the apical constriction morphology of maxillary first premolars in the Chinese population. Methods: Eighty recently extracted human maxillary first premolars from a native Chinese population were used. The number and shape of apical constrictions were recorded under a dental operating microscope (DOM) at 12.5X2.5 magnification. After access preparation, a new K-file was inserted into the canal until the tip of the file was just seen at the apical constriction under the DOM. The teeth with files in the canals were X-rayed from a mesiodistal direction using a direct digital radiography (DDR) system, and the distance between the file tip and the center of radiographic apex was directly measured from the computer screen using DDR measurement software. Results: The percentage of teeth with an apical constriction was 78.5% (102/130). The most common apical constriction shapes were oval (55.9%) and round (35.3%). The mean distance between the apical constriction and the anatomical tip of the root was 0.61 mm, and 84.3% (86/102) were within 1 mm. Conclusion: The most common shape of an apical constriction was oval or round, and the distance to the apex was mostly within 1 mm, indicating that root canal therapy should stop 1 mm from the radiographic apex.

  7. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

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

  8. Congenital Myopathy

    Science.gov (United States)

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

  9. Congenital syphilis

    Science.gov (United States)

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

  10. Constricted Canals: A New Strategy to Overcome This Challenge

    Directory of Open Access Journals (Sweden)

    Ricardo Machado

    2014-01-01

    Full Text Available Negotiation of constricted canals can be a challenge during endodontic treatment. Over the years, several strategies have been presented in order to overcome the difficulties imposed by this anatomical feature. This paper presents three cases using a different protocol from that recommended by the manufacturer of the Protaper System in order to facilitate the negotiation of constricted canals. These cases suggest that the modified protocol shown is able to perform the shaping process with less resistance, reducing the risk of instrument separation and performing an effective process to reach the apical thirds in constricted canals.

  11. Penile constriction injury: An experience of four cases

    Directory of Open Access Journals (Sweden)

    Ajit Somaji Sawant

    2016-01-01

    Full Text Available Penile injury due to constriction by a foreign object is a rare known complication, commonly seen in pediatric age group. We report four cases of penile constriction injury in adults due to various foreign objects and different indications. Between October 2014 and March 2016, four patients (mean age 42.5 years presented with penile constriction injury with duration at presentation ranging from 18 h to 2 months. One patient had complete transection of the corpus and penile urethra. Three patients were managed successfully with daily dressings followed by split-skin grafting in one patient. One patient required delayed primary suturing after the resolution of local edema. The outcome was satisfactory in all patients with retained erectile function. Early medical attention and management is the key to success in penile constriction injury cases and to avoid complications and morbidity. Prompt removal can be challenging in cases of metal foreign bodies.

  12. Wall shear stress estimates in coronary artery constrictions

    Science.gov (United States)

    Back, L. H.; Crawford, D. W.

    1992-01-01

    Wall shear stress estimates from laminar boundary layer theory were found to agree fairly well with the magnitude of shear stress levels along coronary artery constrictions obtained from solutions of the Navier Stokes equations for both steady and pulsatile flow. The relatively simple method can be used for in vivo estimates of wall shear stress in constrictions by using a vessel shape function determined from a coronary angiogram, along with a knowledge of the flow rate.

  13. The Relationship Between Pharyngeal Constriction and Post-swallow Residue.

    Science.gov (United States)

    Stokely, Shauna L; Peladeau-Pigeon, Melanie; Leigh, Chelsea; Molfenter, Sonja M; Steele, Catriona M

    2015-06-01

    Pharyngeal constriction has been proposed as a parameter that may distinguish functional from impaired swallows. We employed anatomically normalized pixel-based measures of pharyngeal area at maximum constriction, and the ratio of this measure to area at rest, and explored the association between these measures and post-swallow residue using the normalized residue ratio scale (NRRS). Videofluoroscopy data for 5 ml boluses of 22 % (w/v) liquid barium were analyzed from 20 healthy young adults and 40 patients with suspected neurogenic dysphagia. The frames of maximum pharyngeal constriction and post-swallow hyoid rest were extracted. Pixel-based measures of pharyngeal area were made using ImageJ and size-normalized using the squared C2-C4 vertebral distance as a reference scalar. Post-swallow residue and the areas of the vallecular and pyriform sinus spaces were measured on the hyoid rest frame to calculate the NRRSv and NRRSp. The dataset was divided into swallows with residue within or exceeding the upper confidence interval boundary seen in the healthy participants. Mixed model repeated measures ANOVAs were used to compare pharyngeal area (rest, constriction) and the pharyngeal constriction ratio, between individuals with and without residue. Measures of pharyngeal area at maximum constriction were significantly larger (i.e., less constricted, p = 0.000) in individuals with post-swallow residue in either the valleculae or the pyriform sinus. These results support the idea that interventions targeted toward improving pharyngeal constriction have the potential to be effective in reducing post-swallow residue.

  14. Constriction and septation during cell division in caulobacters.

    Science.gov (United States)

    Poindexter, J S; Hagenzieker, J G

    1981-07-01

    Morphogenesis of the division site in caulobacters had been described as constrictive in Caulobacter spp. and septate in Asticcacaulis excentricus. However, subsequent studies of other gram-negative genera had implied that constrictive division was an artefact resulting from inadequate preservation of septa; exploration of alternatives to osmium fixation, particularly with aldehydes, was recommended. In this study, the appearance of sectioned division sites was reinvestigated in caulobacter cells prepared by 20 different procedures varying with respect to fixation agents, media, schedules, and temperatures, to dehydrating agents, and to embedding resins. Three types of division site morphogenesis were observed: constriction in C. bacteroides and C. crescentus, partial septation in C. leidyi, and complete, undivided septation in A. excentricus and A. biprosthecum. The anatomy of the division site depended on the bacterial strain, not on the method of preparation of the cells for sectioning. These studies confirm the earlier observations on osmium-fixed caulobacter cells and lead to the general conclusion that gram-negative bacteria with tapered poles probably divide by constriction, whereas septation results in blunt cell poles. A pattern of spiral, rather than circular, insertion of new envelope subunits at the cell equator is proposed as a basic developmental difference between constrictive and septate fission in gram-negative bacteria. Since caulobacter prosthecae can develop as extensions of tapered poles formed by constriction, whereas subpolar or lateral prosthecae occur in species with blunt poles resulting from septation, the site of formation of a thick septum appears unsuitable as a site of subsequent envelope outgrowth.

  15. 5-year series of constricted (lop and cup) ear corrections: development of the mastoid hitch as an adjunctive technique.

    Science.gov (United States)

    Horlock, N; Grobbelaar, A O; Gault, D T

    1998-12-01

    Despite the multitude of corrective procedures described, adequate surgical correction of the congenital constricted ear remains a challenge. The maintenance of the shape and elevation of the reconstructed upper neohelix poses a particular problem. In the present series, experiences with lop ear correction utilizing standard techniques and the use of the mastoid hitch as a useful adjunct to these procedures are described. A total of 19 ears were reconstructed. There were three type 1, eight type 2a, seven type 2b, and one type 3 deformities (Tanzer classification). A graded sequence of procedures was adopted. Mild deformities were corrected by cartilage scoring techniques; a V-Y advancement of the helical root was added for moderate deformities. Cartilage expansion by a banner flap was required for more severe deformities. A mastoid hitch, whereby the refashioned upper neohelix is sutured to the mastoid fascia, should be used as an adjunct to these procedures to maintain helical elevation and prevent recurrence. Severe type 3 deformities may require autologous auricular reconstruction. Mean follow-up time was 1 year. There were six excellent, seven good, four fair, and two poor results. Two patients who had not had mastoid hitch procedures developed a recurrence of the lop deformity. Adequate surgical correction of constricted ear deformities requires a variety of surgical techniques. The mastoid hitch being used for constricted ear correction has not been described elsewhere. The mastoid hitch is a useful adjunctive procedure that may be used effectively in combination with other procedures.

  16. [Congenital epulis].

    Science.gov (United States)

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

    2009-01-01

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

  17. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

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

  18. Dynamics of droplet entrapment in a constricted microchannel

    Science.gov (United States)

    Nekouei, Mehdi; Bithi, Swastika; Vanapalli, Siva

    2016-11-01

    Droplet migration and clogging in confined geometries is a problem of fundamental importance in oil recovery and droplet microfluidics. A confined droplet flowing through a conduit can either be arrested at the constriction or squeeze through it. The dynamics of the trapped and squeezed states are expected to depend on capillary number, drop size, viscosity ratio. Although there have been a number of studies on the dynamics of droplets passing through a constriction, investigations of dynamics of trapped droplets in constricted microchannels is lacking. In this work, we performed three-dimensional simulations of droplet trapping and squeezing process in a constricted microchannel. We also conducted experiments to validate the key results of the simulations. We investigated the impact of different system parameters on the onset of droplet immobilization at the constriction. We found that the continuous phase flows through the corners of the droplet, i.e. gutter flows to play an important role in determining the transition between trapping and squeezing. Therefore we evaluated the effect of different system parameters on gutter flows and found that the hydrodynamic resistance of gutters depends on the viscosity, size and confinement of the droplet.

  19. Z-ring Structure and Constriction Dynamics in E. coli

    Directory of Open Access Journals (Sweden)

    Pramod Kumar

    2017-09-01

    Full Text Available The Z-ring plays a central role in bacterial division. It consists of FtsZ filaments, but the way these reorganize in the ring-like structure during septation remains largely unknown. Here, we measure the effective constriction dynamics of the ring. Using an oscillating optical trap, we can switch individual rod-shaped E. coli cells between horizontal and vertical orientations. In the vertical orientation, the fluorescent Z-ring image appears as a symmetric circular structure that renders itself to quantitative analysis. In the horizontal orientation, we use phase-contrast imaging to determine the extent of the cell constriction and obtain the effective time of division. We find evidence that the Z-ring constricts at a faster rate than the cell envelope such that its radial width (inwards from the cytoplasmic membrane grows during septation. In this respect, our results differ from those recently obtained using photoactivated localization microscopy (PALM where the radial width of the Z-ring was found to be approximately constant as the ring constricts. A possible reason for the different behavior of the constricting Z-rings could be the significant difference in the corresponding cell growth rates.

  20. Granular flow over inclined channels with constrictions

    Science.gov (United States)

    Tunuguntla, Deepak; Weinhart, Thomas; Thornton, Anthony; Bokhove, Onno

    2013-04-01

    Study of granular flows down inclined channels is essential in understanding the dynamics of natural grain flows like landslides and snow avalanches. As a stepping stone, dry granular flow over an inclined channel with a localised constriction is investigated using both continuum methods and particle simulations. Initially, depth-averaged equations of motion (Savage & Hutter 1989) containing an unknown friction law are considered. The shallow-layer model for granular flows is closed with a friction law obtained from particle simulations of steady flows (Weinhart et al. 2012) undertaken in the open source package Mercury DPM (Mercury 2010). The closed two-dimensional (2D) shallow-layer model is then width-averaged to obtain a novel one-dimensional (1D) model which is an extension of the one for water flows through contraction (Akers & Bokhove 2008). Different flow states are predicted by this novel one-dimensional theory. Flow regimes with distinct flow states are determined as a function of upstream channel Froude number, F, and channel width ratio, Bc. The latter being the ratio of the channel exit width and upstream channel width. Existence of multiple steady states is predicted in a certain regime of F - Bc parameter plane which is in agreement with experiments previously undertaken by (Akers & Bokhove 2008) and for granular flows (Vreman et al. 2007). Furthermore, the 1D model is verified by solving the 2D shallow granular equations using an open source discontinuous Galerkin finite element package hpGEM (Pesch et al. 2007). For supercritical flows i.e. F > 1 the 1D asymptotics holds although the two-dimensional oblique granular jumps largely vary across the converging channel. This computationally efficient closed 1D model is validated by comparing it to the computationally more expensiveaa three-dimensional particle simulations. Finally, we aim to present a quasi-steady particle simulation of inclined flow through two rectangular blocks separated by a gap

  1. Fractional charge and spin states in topological insulator constrictions

    Science.gov (United States)

    Klinovaja, Jelena; Loss, Daniel

    2015-09-01

    We theoretically investigate the properties of two-dimensional topological insulator constrictions both in the integer and fractional regimes. In the presence of a perpendicular magnetic field, the constriction functions as a spin filter with near-perfect efficiency and can be switched by electric fields only. Domain walls between different topological phases can be created in the constriction as an interface between tunneling, magnetic fields, charge density wave, or electron-electron interaction dominated regions. These domain walls host non-Abelian bound states with fractional charge and spin and result in degenerate ground states with parafermions. If a proximity gap is induced bound states give rise to an exotic Josephson current with 8 π periodicity.

  2. Long-evolution ascites in a patient with constrictive pericarditis.

    Science.gov (United States)

    Domingos Nunes, Gonçalo Filipe; Fatela, Narcisa; Ramalho, Fernando

    2016-06-01

    Constrictive pericarditis (CP) is an uncommon disease resulting from chronic pericardial inflammation, fibrosis and calcification. Once there are atypical forms of presentation, with subtle or nonexistent cardiorespiratory symptoms, diagnosis may be challenging and difficult. Recurrent ascites in patients with congestive hepatopathy due to constrictive pericarditis is common and, in most cases, reversible after pericardiectomy. Nevertheless, development of persistent liver dysfunction may be a long-term complication. The present work describes a 23 years old man with growth delay, dyspnoea and long evolution ascites, whose exhaustive etiological investigation led to diagnosis. Afterwards the patient underwent elective surgery with symptom and general condition improvement. Ascites differential diagnosis and its association with constrictive pericarditis are briefly reviewed in this article.

  3. On transport in quantum Hall systems with constrictions

    Science.gov (United States)

    Lal, S.

    2007-10-01

    We study edge transport in a simple model of a constricted quantum Hall system with a lowered local filling factor. The current backscattered from the constriction is explained from a matching of the properties of the edge-current excitations in the constriction (ν2) and bulk (ν1) regions. We develop a hydrodynamic theory for bosonic edge modes inspired by this model, finding that a competition between two tunneling process, related by a quasiparticle-quasihole symmetry, determines the fate of the low-bias transmission conductance. A novel generalisation of the Kane-Fisher quantum impurity model is found, describing transitions from a weak-coupling theory at partial transmission to strong-coupling theories for perfect transmission and reflection as well as a new symmetry dictated fixed point. These results provide satisfactory explanations for recent experimental results at filling factors of 1/3 and 1.

  4. Size, but not experience, affects the ontogeny of constriction performance in ball pythons (Python regius).

    Science.gov (United States)

    Penning, David A; Dartez, Schuyler F

    2016-03-01

    Constriction is a prey-immobilization technique used by many snakes and is hypothesized to have been important to the evolution and diversification of snakes. However, very few studies have examined the factors that affect constriction performance. We investigated constriction performance in ball pythons (Python regius) by evaluating how peak constriction pressure is affected by snake size, sex, and experience. In one experiment, we tested the ontogenetic scaling of constriction performance and found that snake diameter was the only significant factor determining peak constriction pressure. The number of loops applied in a coil and its interaction with snake diameter did not significantly affect constriction performance. Constriction performance in ball pythons scaled differently than in other snakes that have been studied, and medium to large ball pythons are capable of exerting significantly higher pressures than those shown to cause circulatory arrest in prey. In a second experiment, we tested the effects of experience on constriction performance in hatchling ball pythons over 10 feeding events. By allowing snakes in one test group to gain constriction experience, and manually feeding snakes under sedation in another test group, we showed that experience did not affect constriction performance. During their final (10th) feedings, all pythons constricted similarly and with sufficiently high pressures to kill prey rapidly. At the end of the 10 feeding trials, snakes that were allowed to constrict were significantly smaller than their non-constricting counterparts.

  5. Tidal and subtidal hydrodynamics and energetics in a constricted estuary

    Science.gov (United States)

    Zarzuelo, Carmen; López-Ruiz, Alejandro; Díez-Minguito, Manuel; Ortega-Sánchez, Miguel

    2017-02-01

    The dynamics of coastal plain estuaries are mainly associated with variable tidal forcing and local winds in combination with bathymetric complexity and coastline irregularity. Specific features, such as constricted areas, can potentially affect and energize the hydrodynamics of these types of systems. Particularly, tidal range and tidal currents can be significantly amplified where the incoming tidal wave becomes constricted. In this work, the impact of a narrow constriction on a mesotidal estuary was analysed at tidal and subtidal time scales. Tidal hydrodynamics, energy fluxes and energy dissipation were determined for the entire Cádiz Bay (southwestern Spain) using the Delft3D numerical model. Field observations were used to analyse tidal propagation and energy dissipation along the bay constriction and to calibrate and test the numerical model. The results indicate that the presence of the constriction transformed and distorted the tide and increased the tidal range and flow velocities along the channel, with implications on energy dissipation. The tidal currents were oriented along-channel at the central part of the constriction, although abrupt bathymetric changes at the channel inner boundary provoked a sudden rotation of the flow. Although the energy fluxes were higher for spring tides and were strongly influenced by winds, the energy dissipation was controlled by bed shear stresses and vertical dispersion. The significance of this energy dissipation was that it destabilized the water column, which resulted in a weakly stratified system with implications on water quality. At a subtidal scale, the residual water volume exchange was the result of the combined effects of the neap/spring tides, wind and waves, whereas tides were dominant at the tidal scale.

  6. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

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

  7. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

  8. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

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

  9. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

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

  10. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-11-01

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

  11. [Congenital ranula].

    Science.gov (United States)

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

    2010-01-01

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

  12. Multidisciplinary emergent removal of a metal penoscrotal constriction device

    LENUS (Irish Health Repository)

    Nason, GJ

    2017-03-01

    Strangulation of the genital organs is a rare presentation to the emergency department which requires urgent intervention to avoid long term complications. Penoscrotal constriction devices are either used for autoerotic stimulus or to increase sexual performance by maintaining an erection for a longer period. We report a case of a man who presented with penile strangulation following the application of a titanium penoscrotal constriction ring during sexual intercourse seven hours previously. The Fire Brigade department attended with an electric operated angle grinder to facilitate removal of the ring as standard medical equipment (orthopaedic saws, bolt and bone cutters) were insufficient. Fully functional recovery was achieved.

  13. Bacterial growth and motility in sub-micron constrictions

    NARCIS (Netherlands)

    Männik, J.; Driessen, R.; Galajda, P.; Keymer, J.E.; Dekker, C.

    2009-01-01

    In many naturally occurring habitats, bacteria live in micrometer-size confined spaces. Although bacterial growth and motility in such constrictions is of great interest to fields as varied as soil microbiology, water purification, and biomedical research, quantitative studies of the effects of conf

  14. Theoretical study on the constricted flow phenomena in arteries

    Science.gov (United States)

    Sen, S.; Chakravarty, S.

    2012-12-01

    The present study is dealt with the constricted flow characteristics of blood in arteries by making use of an appropriate mathematical model. The constricted artery experiences the generated wall shear stress due to flow disturbances in the presence of constriction. The disturbed flow in the stenosed arterial segment causes malfunction of the cardiovascular system leading to serious health problems in the form of heart attack and stroke. The flowing blood contained in the stenosed artery is considered to be non-Newtonian while the flow is treated to be two-dimensional. The present pursuit also accounts for the motion of the arterial wall and its effect on local fluid mechanics. The flow analysis applies the time-dependent, two-dimensional incompressible nonlinear Navier-Stokes equations for non-Newtonian fluid representing blood. An extensive quantitative analysis presented at the end of the paper based on large scale numerical computations of the quantities of major physiological significance enables one to estimate the constricted flow characteristics in the arterial system under consideration which deviates significantly from that of normal physiological flow conditions.

  15. Clustering of microscopic particles in constricted blood flow

    Science.gov (United States)

    Bächer, Christian; Schrack, Lukas; Gekle, Stephan

    2017-01-01

    A mixed suspension of red blood cells (RBCs) and microparticles flows through a cylindrical channel with a constriction mimicking a stenosed blood vessel. Our three-dimensional Lattice-Boltzmann simulations show that the RBCs are depleted right ahead of and after the constriction. Although the RBC mean concentration (hematocrit) is 16.5% or 23.7%, their axial concentration profile is very similar to that of isolated tracer particles flowing along the central axis. Most importantly, however, we find that the stiff microparticles exhibit the opposite behavior. Arriving on a marginated position near the channel wall, they can pass through the constriction only if they find a suitable gap to dip into the dense plug of RBCs occupying the channel center. This leads to a prolonged dwell time and, as a consequence, to a pronounced increase in microparticle concentration right in front of the constriction. For biochemically active particles such as drug delivery agents or activated platelets this clustering may have important physiological consequences, e.g., for the formation of microthrombi.

  16. Clustering of microscopic particles in constricted blood flow

    CERN Document Server

    Bächer, Christian; Gekle, Stephan

    2016-01-01

    A mixed suspension of red blood cells (RBCs) and microparticles flows through a cylindrical channel with a constriction mimicking a stenosed blood vessel. Our three-dimensional Lattice-Boltzmann simulations show that the RBCs are depleted right ahead and after the constriction. Although the RBC mean concentration (hematocrit) is 16.5% or 23.7%, their axial concentration profile is very similar to that of isolated tracer particles flowing along the central axis. Most importantly, however, we find that the stiff microparticles exhibit the opposite behavior. Arriving on a marginated position near the channel wall, they can pass through the constriction only if they find a suitable gap to dip into the dense plug of RBCs occupying the channel center. This leads to a prolonged dwell time and, as a consequence, to a pronounced increase in microparticle concentration right in front of the constriction. For biochemically active particles such as drug delivery agents or activated platelets this clustering may lead to p...

  17. Atypical Presentation of Constrictive Pericarditis in a Holstein Heifer

    Directory of Open Access Journals (Sweden)

    Mohamed M. Elhanafy

    2012-01-01

    Full Text Available The field diagnosis of constrictive pericardial effusion is often established on the pertinent pathognomonic physical examination findings, but the condition cannot be ruled out based on absence of these cardinal signs. Constrictive pericardial effusion is not always manifested by bilateral jugular venous distention and pulsation, brisket edema, and muffled heart sounds, all of which are considered the key points in the field diagnosis of pericardial effusion and hardware disease. This case will also document that the outcomes of hematology, serum biochemistry panels, and blood gas analysis can be totally inconsistent with passive venous congestion and constrictive pericardial effusion in cattle. Chest radiographic findings revealed radio dense, wire-like objects; the findings were suggestive but not conclusive for pericardial or pleural effusions, due to indistinguishable diaphragmatic outline and cardiopulmonary silhouette. Cardiac ultrasonography was found to be an excellent paraclinical diagnostic procedure for cases that potentially have traumatic pericarditis and constrictive pericardial effusion. Ultrasound-guided pericardiocentesis was also a valuable diagnostic aid in establishing a definitive diagnosis.

  18. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

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

    1983-12-15

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

  19. Congenital hypoaldosteronism.

    Science.gov (United States)

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

    2008-08-01

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

  20. Embryo as an active granular fluid: stress-coordinated cellular constriction chains

    Science.gov (United States)

    Holcomb, Michael; Gao, Guo-Jie; Thomas, Jeffrey; Blawzdziewicz, Jerzy

    2016-11-01

    Mechanical stress plays an intricate role in gene expression in individual cells and sculpting of developing tissues. Motivated by our observation of the cellular constriction chains (CCCs) during the initial phase of ventral furrow formation in the Drosophila melanogaster embryo, we propose an active granular fluid (AGF) model that provides valuable insights into cellular coordination in the apical constriction process. In our model, cells are treated as circular particles connected by a predefined force network, and they undergo a random constriction process in which the particle constriction probability P is a function of the stress exerted on the particle by its neighbors. We find that when P favors tensile stress, constricted particles tend to form chain-like structures. In contrast, constricted particles tend to form compact clusters when P favors compression. A remarkable similarity of constricted-particle chains and CCCs observed in vivo provides indirect evidence that tensile-stress feedback coordinates the apical constriction activity.

  1. Nanoplough-constrictions on thin YBCO films made with atomic force microscopy.

    Science.gov (United States)

    Elkaseh, A A O; Büttner, U; Meincken, M; Hardie, G L; Srinivasu, V V; Perold, W J

    2007-09-01

    Utilizing atomic force microscope (AFM) with a diamond tip, we were able to successfully plough nano-constrictions on epitaxially grown YBa2Cu3O(7-x) thin films deposited on MgO substrates. The thickness, width, and length of the obtained constrictions were in the range of a few 100 nm. Furthermore, we managed to produce a new S-type constriction, of which the dimensions are easier to control than for conventional constrictions.

  2. Permeability Description by Characteristic Length, Tortuosity, Constriction and Porosity

    CERN Document Server

    Berg, Carl Fredrik

    2015-01-01

    In this article we investigate the permeability of a porous medium as given in Darcy's law. The permeability is described by an effective hydraulic pore radius in the porous medium, the fluctuation in local hydraulic pore radii, the length of streamlines, and the fractional volume conducting flow. The effective hydraulic pore radius is related to a characteristic hydraulic length, the fluctuation in local hydraulic radii is related to a constriction factor, the length of streamlines is characterized by a tortuosity, and the fractional volume conducting flow from inlet to outlet is described by an effective porosity. The characteristic length, the constriction factor, the tortuosity and the effective porosity are thus intrinsic descriptors of the pore structure relative to direction. We show that the combined effect of our pore structure description fully describes the permeability of a porous medium. The theory is applied to idealized porous media, where it reproduces Darcy's law for fluid flow derived from t...

  3. Expansion of Severely Constricted Visual Field Using Google Glass.

    Science.gov (United States)

    Trese, Matthew G J; Khan, Naheed W; Branham, Kari; Conroy, Erin Brown; Moroi, Sayoko E

    2016-05-01

    Google Glass (Google, Mountain View, CA) is a wearable technology with a computer and camera mounted on an eyeglass frame. The camera captures wide-angle video and projects it onto a prism located in the right superior temporal quadrant of the wearer's visual field. The authors present a case of an individual who used Google Glass' video projection feature to expand his severely constricted right visual field. This patient reported improved ambulatory navigation. Using Google Glass, the patient's peripheral vision, measured using Goldmann kinetic perimetry, expanded impressively. Based on these preliminary results, the authors propose further characterization on the potential utility of such head-mount display technology as a tool to improve the lives of patients with severely constricted visual fields. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:486-489.].

  4. The plastid-dividing machinery: formation, constriction and fission.

    Science.gov (United States)

    Yoshida, Yamato; Miyagishima, Shin-ya; Kuroiwa, Haruko; Kuroiwa, Tsuneyoshi

    2012-12-01

    Plastids divide by constriction of the plastid-dividing (PD) machinery, which encircles the division site. The PD machinery consists of the stromal inner machinery which includes the inner PD and filamenting temperature-sensitive mutant Z (FtsZ) rings and the cytosolic outer machinery which includes the outer PD and dynamin rings. The major constituent of the PD machinery is the outer PD ring, which consists of a bundle of polyglucan filaments. In addition, recent proteomic studies suggest that the PD machinery contains additional proteins that have not been characterized. The PD machinery forms from the inside to the outside of the plastid. The constriction seems to occur by sliding of the polyglucan filaments of the outer PD ring, aided by dynamin. The final fission of the plastid is probably promoted by the 'pinchase' activity of dynamin.

  5. History dependence of vital capacity in constricted lungs

    OpenAIRE

    Olson, Thomas P.; Wilson, Theodore A.; Johnson, Bruce D.; Hyatt, Robert E.

    2010-01-01

    Measurements of dynamic force-length behavior of maximally activated strips of smooth muscle during oscillatory length changes show that force decreases well below the isometric force during the shortening phase of the oscillation. The magnitude of the decrease depends on the rate of shortening; for slower shortening, the decrease is smaller and force is larger. Modeling of expiratory flow, based on these data, predicts that vital capacity in constricted lungs depends on the rate of expiratio...

  6. History dependence of vital capacity in constricted lungs.

    Science.gov (United States)

    Olson, Thomas P; Wilson, Theodore A; Johnson, Bruce D; Hyatt, Robert E

    2010-07-01

    Measurements of dynamic force-length behavior of maximally activated strips of smooth muscle during oscillatory length changes show that force decreases well below the isometric force during the shortening phase of the oscillation. The magnitude of the decrease depends on the rate of shortening; for slower shortening, the decrease is smaller and force is larger. Modeling of expiratory flow, based on these data, predicts that vital capacity in constricted lungs depends on the rate of expiration. In maximally constricted lungs, forced vital capacity (FVC) is predicted to be 16% smaller than control, and vital capacity for a very slow expiration (SVC), 31% less than control. These predictions were tested by measuring FVC and SVC in constricted normal subjects. In the first group of 9 subjects, four maneuvers were made following the delivery of two doses of methacholine in the order: SVC, FVC, FVC, SVC. In a second group of 11 subjects, two maneuvers were performed at each dose in the order: FVC, SVC. At the highest dose of methacholine, FVC for both trials in group 1 and for the one trial in group 2 were all approximately 13% less than control, a slightly smaller decrease than predicted. SVC for the 1st trial in group 1 was 27% less than control, also slightly smaller than predicted. The difference between FVC and SVC for this trial, 13%, was close to the predicted difference of 15%. However, SVC for the 2nd trial in group 1 (preceded by 3 vital capacity maneuvers) and for group 2 (preceded by 1) were no different from FVC. We conclude that vital capacity in constricted lungs depends on the dynamic force-length properties of smooth muscle and that the history dependence of the dynamic properties of smooth muscle is more complicated than has been inferred from oscillatory force-length behavior.

  7. Eggshell calcification of the heart in constrictive pericarditis

    Institute of Scientific and Technical Information of China (English)

    Rajesh; Vijayvergiya; Ramalingam; Vadivelu; Sachin; Mahajan; Sandeep; S; Rana; Manphool; Singhal

    2015-01-01

    Constrictive pericarditis(CP) is an inflammatory disease of pericardium. Pericardial calcification in X-ray provides a clue for the diagnosis of CP. An extensive "eggshell" type of calcification is rarely seen in CP. We hereby report a case of CP with eggshell calcification of pericardium, encircling whole of the heart. A need for multimodality imaging and hemodynamic assessment followed by surgical pericardiectomy is discussed.

  8. Role of calcium in the constriction of isolated cerebral arteries

    Energy Technology Data Exchange (ETDEWEB)

    Wendling, W.W.

    1987-01-01

    Calcium entry blockers (CEB) have been used in the experimental treatment or prevention of many cerebrovascular disorders including stroke, post-ischemic hypoperfusion after cardiac arrest, cerebral vasospasm after subarachnoid hemorrhage, and migraine headache. However, the mechanism of action of these drugs on the cerebral circulation is poorly understood. This study examined the effects of calcium antagonists, Ca/sup 2 +/-deficient solutions, and vasocostrictors on cerebrovascular tone and /sup 45/Ca fluxes, to determine the role of calcium in cerebral arterial constriction. A Scatchard plot of /sup 45/Ca binding to BMCA showed that Ca/sup 2 +/ was bound at either low or high affinity binding sties. The four vasoconstrictors (potassium, serotonin, PGF/sub 2 ..cap alpha../, or SQ-26,655) each increased low affinity /sup 45/Ca uptake into BMCA. The results demonstrate that: (1) Potassium and serotonin constrict BMCA mainly by promoting Ca/sup 2 +/ influx through CEB-sensitive channels; (2) PGF/sub 2 ..cap alpha../ and SQ-26,655 constrict BMCA in part by promoting Ca/sup 2 +/ influx through CEB-sensitive channels, and in part by releasing Ca/sup 2 +/ from depletable internal stores; (3) The major action of CEB on BMCA is to block vasoconstrictor-induced Ca/sup 2 +/ uptake through both potential-operated (K/sup +/-stimulated) and receptor-operated channels.

  9. Radial structure of the constricted positive column: Modeling and experiment

    Science.gov (United States)

    Golubovskii, Yu.; Kalanov, D.; Maiorov, V.

    2017-08-01

    We present a detailed self-consistent model of a positive column in argon glow discharge at moderate pressures and currents. This model describes the discharge transition between diffuse and constricted states. The model includes an extensive set of plasma chemical reactions and equation for inhomogeneous gas heating. The nonequilibrium behavior of an electron distribution function is also considered. One of the main features of the model is an accurate treatment of radiation trapping by solving the Holstein-Biberman equation directly. Influence of the radiation trapping on macroscopic parameters of the constricted positive column is studied. We propose a method for solving a boundary-value problem, including particle and energy balance equations for electrons, ground state atoms, atomic and molecular ions, and excited species. Unlike traditional solution approaches for similar systems, the method provides continuous Z- and S-shaped characteristics of discharge parameters, describing hysteresis in transition between diffuse and constricted discharge regimes. Performed experiments include measurements of volt-ampere characteristics and spectroscopic study of radial density profiles of excited atoms by measuring line emission and absorption, and electrons by measuring bremsstrahlung intensity. The role of resonance radiation trapping in spatial redistribution of 1 s and 2 p states of argon is demonstrated. Results of modeling are compared to the experimental data.

  10. Characterization of superconducting nanowire single-photon detector with artificial constrictions

    Directory of Open Access Journals (Sweden)

    Ling Zhang

    2014-06-01

    Full Text Available Statistical studies on the performance of different superconducting nanowire single-photon detectors (SNSPDs on one chip suggested that random constrictions existed in the nanowire that were barely registered by scanning electron microscopy. With the aid of advanced e-beam lithography, artificial geometric constrictions were fabricated on SNSPDs as well as single nanowires. In this way, we studied the influence of artificial constrictions on SNSPDs in a straight forward manner. By introducing artificial constrictions with different wire widths in single nanowires, we concluded that the dark counts of SNSPDs originate from a single constriction. Further introducing artificial constrictions in SNSPDs, we studied the relationship between detection efficiency and kinetic inductance and the bias current, confirming the hypothesis that constrictions exist in SNSPDs.

  11. Congenital Heart Disease in Adults

    Science.gov (United States)

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

  12. MANAGEMENT OF STREETER’S DYSPLASIA OF LOWER LIMB BY MODIFIED TECHNIQUE OF SINGLE STAGE DOUBLE LAYER SUTURING

    Directory of Open Access Journals (Sweden)

    Mani Kumar

    2015-08-01

    Full Text Available Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Single - stage, circumferential excision with Z - plasty transposition flaps has been demonstrated to be an effective treatment for congenital constriction bands of the extremities. We report a case of congenital constriction bands in the lower limb of a child managed surgically by modified technique of circumf erential subcutaneous fat advancement flaps and Z - plasties

  13. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

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

  14. Congenital platelet function defects

    Science.gov (United States)

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

  15. Congenital heart disease

    Science.gov (United States)

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

  16. Ring cycle for dilating and constricting the nuclear pore.

    Science.gov (United States)

    Solmaz, Sozanne R; Blobel, Günter; Melcák, Ivo

    2013-04-09

    We recently showed that the three "channel" nucleoporins, Nup54, Nup58, and Nup62, interact with each other through only four distinct sites and established the crystal structures of the two resulting "interactomes," Nup54•Nup58 and Nup54•Nup62. We also reported instability of the Nup54•Nup58 interactome and previously determined the atomic structure of the relevant Nup58 segment by itself, demonstrating that it forms a twofold symmetric tetramer. Here, we report the crystal structure of the relevant free Nup54 segment and show that it forms a tetrameric, helical bundle that is structurally "conditioned" for instability by a central patch of polar hydrogen-bonded residues. Integrating these data with our previously reported results, we propose a "ring cycle" for dilating and constricting the nuclear pore. In essence, three homooligomeric rings, one consisting of eight modules of Nup58 tetramers, and two, each consisting of eight modules of Nup54 tetramers, are stacked in midplane and characterize a constricted pore of 10- to 20-nm diameter. In going to the dilated state, segments of one Nup58 and two Nup54 tetrameric modules reassort into a dodecameric module, eight of which form a single, heterooligomeric midplane ring, which is flexible in a diameter range of 40-50 nm. The ring cycle would be regulated by phenylalanine-glycine regions ("FG repeats") of channel nups. Akin to ligand-gated channels, the dilated state of the midplane ring may be stabilized by binding of [cargo•transport-factor] complexes to FG repeats, thereby linking the ratio of constricted to dilated nuclear pores to cellular transport need.

  17. Rolie-Poly fluid flowing through constrictions: Two distinct instabilities

    KAUST Repository

    Reis, T.

    2013-05-01

    Elastic instabilities of entangled polymer melts are common in industrial processes but the physics responsible is not well understood. We present a numerical linear stability study of a molecular based constitutive model which grants us physical insight into the underlying mechanics involved. Two constriction flows are considered - one shear dominated, the other extension dominated - and two distinct instabilities are found. The influence of the molecular structure and the behaviour of the polymer dynamics are investigated and in both cases chain relaxation and orientation play a crucial role. This suggests a molecular-based physical interpretation of the underlying mechanisms responsible for flow instabilities. © 2013 Elsevier B.V.

  18. Apical domain polarization localizes actin-myosin activity to drive ratchet-like apical constriction

    OpenAIRE

    Mason, Frank M.; Tworoger, Michael; Martin, Adam C.

    2013-01-01

    Apical constriction promotes epithelia folding, which changes tissue architecture. During Drosophila gastrulation, mesoderm cells exhibit repeated contractile pulses that are stabilized such that cells apically constrict like a ratchet. The transcription factor Twist is required to stabilize cell shape, however it is unknown how Twist spatially coordinates downstream signals to prevent cell relaxation. We find that during constriction, Rho-associated kinase (Rok) is polarized to the middle of...

  19. Eye movement and pupil size constriction under discomfort glare.

    Science.gov (United States)

    Lin, Yandan; Fotios, Steve; Wei, Minchen; Liu, Yihong; Guo, Weihong; Sun, Yaojie

    2015-01-29

    Involuntary physiological responses offer an alternative means to psychophysical procedures for objectively evaluating discomfort glare. This study examined eye movement and pupil size responses to glare discomfort using new approaches to analysis: relative pupil size and speed of eye movement. Participants evaluated glare discomfort using the standard de Boer rating scale under various conditions manipulated to influence glare discomfort. Eye movement was recorded using an electro-oculogram (EOG), and pupil size was recorded using Tobii glasses. Ten young (mean age: 24.5 years old) and 10 senior (mean age: 61 years old) participants were recruited for this experiment. Subjective evaluation of glare discomfort was highly correlated with eye movement (multiple correlation coefficient [R(2)] of >0.94, P < 0.001) and pupil constriction (R(2) = 0.38, P < 0.001). Severe glare discomfort increased the speed of eye movement and caused larger pupil constriction. Larger variations of eye movement were found among seniors. The two physiological responses studied here to characterize discomfort glare under various lighting conditions had significant correlation with the subjective evaluation. The correlation between discomfort glare and physiological responses suggests an objective way to characterize and evaluate discomfort glare that may overcome the problems of conventional subjective evaluation. It also offers an explanation as to why long-term exposure to discomfort glare leads to visual fatigue and eyestrain. Copyright 2015 The Association for Research in Vision and Ophthalmology, Inc.

  20. Motion of an elastic capsule in a constricted microchannel

    CERN Document Server

    Touchard, Antoine; Zhu, Lailai; Brandt, Luca

    2014-01-01

    We study the motion of an elastic capsule through a microchannel characterized by a localized constriction. We consider a capsule with a stress-free spherical shape and impose its steady state configuration in an infinitely long straight channel as the initial condition for our calculations. We report how the capsule deformation, velocity, retention time, and maximum stress of the membrane are affected by the capillary number, Ca, and the constriction shape. We estimate the deformation by measuring the variation of the three-dimensional surface area and a series of alternative quantities easier to extract from experiments. These are the Taylor parameter, the perimeter and the area of the capsule in the spanwise plane. We find that the perimeter is the quantity that reproduces the behavior of the three-dimensional surface area the best. We observe that, in general, area-deformation correlated quantities grow linearly with Ca, while velocity-correlated quantities saturate for large Ca but display a steeper incr...

  1. Tuberculous constrictive pericarditis complicated with tuberculous mediastinitis - case report.

    Science.gov (United States)

    Man, Milena Adina; NiŢu, Mimi Floarea; Strâmbu, Lelia; Florescu, Cristina; Streba, Costin Teodor; Trofor, Antigona Carmen

    2016-01-01

    Constrictive pericarditis is a rare and severe disease. A 37-year-old patient was admitted in the hospital for dyspnea, precordial pain, right-sided cardiac failure. Chest X-ray showed cardiac enlargement and an opacity suggestive for pleural effusion. Echocardiography revealed an adhesive-effusive-constrictive pericarditis, a very thickened pericardium and bilateral pleural effusion. After a pericardiectomy done to restore cardiac compensation and to identify etiological factors, a tuberculous pericarditis (TBP) was diagnosed. After surgery and starting anti-TB treatment, the patient presented altered clinical status, dyspnea, dry cough, fever and delayed callus formation at sternum level. Thoracic scan revealed mediastinal air collections, pericarditis and pleurisy. Thus, the TBP diagnosis was extended to mediastinal TB and anti-TB therapy was continued. After four months of treatment, another thoracic scan showed disappearance of the mediastinal air-leakage bubbles, multiple new micronodules in both lungs and lymph nodes of up to 15 mm; also increasing pericardial and pleural effusions. This case was interpreted as a TB treatment failure situation. A retreatment regimen was started, resulting in a slow favorable outcome. Pericardial TB is a rare condition, usually with delayed diagnosis and poor treatment benefits. Whenever possible, earlier diagnostic can contribute to better management of these cases.

  2. Dynamics of single inclusions in channels with constrictions in the acoustic field

    Science.gov (United States)

    Maksimov, A. Yu.; Gubaidullin, A. A.

    2016-10-01

    The process of mobilization of viscous droplets, trapped in the channel with a sinusoidal constriction under the influence of an external acoustic field have been studied. The dependence of the amplitude of acoustic impact from the frequency has been found. The problem of the free longitudinal oscillations of a droplet in the absence of viscous friction forces in the channels with the constrictions was considered. The influence of surface tension, droplet volume and shape of constrictions on the natural frequency of the longitudinal oscillations of a droplet pinned at the constriction of the capillary were studied.

  3. Application of Computational Physics: Blood Vessel Constrictions and Medical Infuses

    CERN Document Server

    Suprijadi,; Subekti, Petrus; Viridi, Sparisoma

    2013-01-01

    Application of computation in many fields are growing fast in last two decades. Increasing on computation performance helps researchers to understand natural phenomena in many fields of science and technology including in life sciences. Computational fluid dynamic is one of numerical methods which is very popular used to describe those phenomena. In this paper we propose moving particle semi-implicit (MPS) and molecular dynamics (MD) to describe different phenomena in blood vessel. The effect of increasing the blood pressure on vessel wall will be calculate using MD methods, while the two fluid blending dynamics will be discussed using MPS. Result from the first phenomenon shows that around 80% of constriction on blood vessel make blood vessel increase and will start to leak on vessel wall, while from the second phenomenon the result shows the visualization of two fluids mixture (drugs and blood) influenced by ratio of drugs debit to blood debit. Keywords: molecular dynamic, blood vessel, fluid dynamic, movin...

  4. [Diagnostic difficulties in a case of constricted tubular visual field].

    Science.gov (United States)

    Dogaru, Oana-Mihaela; Rusu, Monica; Hâncu, Dacia; Horvath, Kárin

    2013-01-01

    In the paper below we present the clinical case of a 48 year old female with various symptoms associated with functional visual disturbance -constricted tubular visual fields, wich lasts from 6 years; the extensive clinical and paraclinical ophthalmological investigations ruled out the presence of an organic disorder. In the present, we suspect a diagnosis of hysteria, still uncertain, wich represented over time a big challenge in psychology and ophthalmology. The mechanisms and reasons for hysteria are still not clear and it could represent a fascinating research theme. The tunnel, spiral or star-shaped visual fields are specific findings in hysteria for patients who present visual disturbance. The question of whether or not a patient with hysterical visual impairment can or cannot "see" is still unresolved.

  5. Satiety and eating patterns in two species of constricting snakes

    DEFF Research Database (Denmark)

    Nielsen, Torben T.; Jacobsen, Lars Magnus W.; Wang, Tobias

    2011-01-01

    Satiety has been studied extensively in mammals, birds and fish but very little information exists on reptiles. Here we investigate time-dependent satiation in two species of constricting snakes, ball pythons (Python regius) and yellow anacondas (Eunectes notaeus). Satiation was shown to depend...... on both fasting time and prey size. In the ball pythons fed with mice of a relative prey mass RPM (mass of the prey/mass of the snake×100) of 15%, we observed a satiety response that developed between 6 and 12h after feeding, but after 24h pythons regained their appetite. With an RPM of 10% the pythons...... a significant decrease in handling time between the first and the second prey and a positive correlation between handling time and the mass of the snake....

  6. Resistance coefficient during ice slurry flow through pipe sudden constriction

    Directory of Open Access Journals (Sweden)

    Ł. Mika

    2010-07-01

    Full Text Available Due to the adverse environmental effects of some commonly-used refrigerants, efforts are still underway to find new cooling mediumsthat would be safer to the ozone layer and would not increase the greenhouse effect. Ice slurry as a new ecological coolant suits theprocesses requiring the preservation of constant and equal temperature in the cooling process of the full section of the cooled solid. Thanks to that, ice slurry can find a wide potential application in such branches of industry, as heat treatment, materials engineering, or foundry. In this paper, flow systems which are commonly used in fittings elements such as diameter’s reductions in ice slurry pipelines, are experimentally investigated. In the study reported in this paper, the consideration was given to the specific features of the slurry flow in which the flow qualities depend mainly on the volume fraction of solid particles. The results of the experimental studies on the flow resistance, presented herein, enabled to determine the resistance coefficient during the ice slurry flow through the pipe sudden constriction. The volume fraction of solid particles in the slurry ranged from 5 to 30%. The recommended and non-recommended range of the Reynolds number for the ice slurry flow through the pipe sudden constriction were presented in this paper. The experimental studies were conducted on a few variants of the most common reductions of copper pipes. Further studies on the determination of the resistance coefficient in the remaining fittings elements of the pipeline were recommended in the paper as well as the further theoretical studies intended to determine the theoretical relations to calculate the resistance coefficient in all the fittings elements in the pipeline (on the basis of the experimental studies and to elaborate the calculation pattern of the entire ice slurry system.

  7. Electrical transport through constrictions in the charge-density wave conductor NbSe3

    NARCIS (Netherlands)

    O´Neill, K.; Slot, E.; Thorne, R.; Van der Zant, H.

    2005-01-01

    We have investigated the electrical transport properties of insulating and metallic constrictions of dimensions 100nm-10_m in the charge-density wave (CDW) conductor NbSe3. The constrictions are made in a variety of ways: focused ion beam, reactive ion etching through a resist mask, and in a mechani

  8. A new method for correcting type I and type II constricted (cup and lop) ears.

    Science.gov (United States)

    Xiaogeng, Hu; Hongxing, Zhuang; Qinghua, Yang; Haiyue, Jiang; Yanyong, Zhao

    2006-01-01

    Tanzer suggested the term "constricted ear," denoting a spectrum of deformities limited to the superior third of the ear. Tanzer classified the constricted ear into three types. Type I ears have involvement of the helix, which usually is flattened. Type II ears show involvement of both the helix and the scapha. With type III ears, the auricle is rolled into a nearly tubular form that some authors regard as a form of microtia. The authors' new method for correcting the constricted ear varies in accordance with the diverse degree of deformity. The new method was used to correct constricted ears through a one-stage operation in eight type I cases. For the remaining six type 2 cases, the methods were combined with composite grafting. Most of the patients were satisfied with the final results. Therefore, the authors conclude that their approach is suitable for the treatment of type I and type II constricted ears.

  9. Congenital right hemidiaphragmatic agenesis

    OpenAIRE

    Bilal Mirza; Zahid Bashir; Afzal Sheikh

    2012-01-01

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

  10. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

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

  11. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

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

  12. What Are Congenital Heart Defects?

    Science.gov (United States)

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

  13. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

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

  14. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

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

    2017-01-01

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

  15. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

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

  16. Constriction velocities of renal afferent and efferent arterioles of mice are not related to SMB expression.

    Science.gov (United States)

    Patzak, Andreas; Petzhold, Daria; Wronski, Thomas; Martinka, Peter; Babu, Gopal J; Periasamy, Muthu; Haase, Hannelore; Morano, Ingo

    2005-12-01

    Constriction of renal arterioles contributes significantly to the control of perfusion and glomerular filtration. Afferent but not efferent arterioles express smooth muscle myosin heavy chain B (SMB) (with a 5'-insert of seven amino acids). The aim of the present study was to investigate (1) the constriction characteristics of afferent and efferent arterioles under physiologic load and (2) whether expression of SMB may causally contribute to these constriction characteristics. We compared constriction parameters [constriction amplitude, maximal rate of constriction velocity ("dc/dt(max)"), and time to half-maximal constriction (t(1/2)) of in vitro perfused renal afferent and efferent arterioles of wild-type (smb(+/+)] and homozygous SMB knockout [smb(-/-)] mice upon stimulation with angiotensin II (Ang II) (10(-8) mol/L) and potassium chloride (KCl) (100 mmol/L). SMB expression was investigated by double-labeling immunofluorescence. Contraction amplitude and dc/dt(max) of mouse afferent arterioles upon Ang II stimulation were significantly greater compared to efferent arterioles. However, constriction amplitudes, dc/dt(max), and t(1/2) of afferent as well as efferent arterioles upon Ang II stimulation were similar in smb(+/+) and smb(-/-) mice. Constriction amplitudes upon KCl stimulation of afferent arterioles were similar in both smb(+/+) and smb(-/-) mice. Furthermore, KCl-induced dc/dt(max) and t(1/2) of afferent arterioles were similar in both smb(+/+) and smb(-/-) mice. SMB expression could be detected in afferent but not efferent arterioles in smb(+/+) mice. No SMB expression in either arteriole could be observed in smb(-/-) mice. Our results suggest that the presence of different alternatively 5'-spliced smooth muscle-myosin heavy chain (SM-MHC) isoforms does not dominate the different contractile features of physiologically loaded renal afferent or efferent arterioles.

  17. Modeling Of Blood Vessel Constriction In 2-D Case Using Molecular Dynamics Method

    CERN Document Server

    Rendi, Mohamad; Viridi, Sparisoma

    2013-01-01

    Blood vessel constriction is simulated with particle-based method using a molecular dynamics authoring software known as Molecular Workbench (WM). Blood flow and vessel wall, the only components considered in constructing a blood vessel, are all represented in particle form with interaction potentials: Lennard-Jones potential, push-pull spring potential, and bending spring potential. Influence of medium or blood plasma is accommodated in plasma viscosity through Stokes drag force. It has been observed that pressure p is increased as constriction c is increased. Leakage of blood vessel starts at 80 % constriction, which shows existence of maximum pressure that can be overcome by vessel wall.

  18. Sodium hydrosulfide relieves neuropathic pain in chronic constriction injured rats.

    Science.gov (United States)

    Lin, Jian-Qing; Luo, Hui-Qin; Lin, Cai-Zhu; Chen, Jin-Zhuan; Lin, Xian-Zhong

    2014-01-01

    Aberrant neuronal activity in injured peripheral nerves is believed to be an important factor in the development of neuropathic pain (NPP). Channel protein pCREB of that activity has been shown to mitigate the onset of associated molecular events in the nervous system, and sodium hydrosulfide (NaHS) could inhibit the expression of pCREB. However, whether NaHS could relieve the pain, it needs further experimental research. Furthermore, the clinical potential that NaHS was used to relieve pain was limited so it would be required. To address these issues, the rats of sciatic nerve chronic constriction injury (CCI) were given intraperitoneal injection of NaHS containing hydrogen sulfide (H2S). The experimental results showed that NaHS inhibited the reduction of paw withdrawal thermal latency (PWTL), mechanical withdrawal threshold (MWT), and the level of pCREB in CCI rats in a dose-dependent manner and they were greatly decreased in NaHSM group (P < 0.05). NaHS alleviates chronic neuropathic pain by inhibiting expression of pCREB in the spinal cord of Sprague-Dawley rats.

  19. Sodium Hydrosulfide Relieves Neuropathic Pain in Chronic Constriction Injured Rats

    Directory of Open Access Journals (Sweden)

    Jian-qing Lin

    2014-01-01

    Full Text Available Aberrant neuronal activity in injured peripheral nerves is believed to be an important factor in the development of neuropathic pain (NPP. Channel protein pCREB of that activity has been shown to mitigate the onset of associated molecular events in the nervous system, and sodium hydrosulfide (NaHS could inhibit the expression of pCREB. However, whether NaHS could relieve the pain, it needs further experimental research. Furthermore, the clinical potential that NaHS was used to relieve pain was limited so it would be required. To address these issues, the rats of sciatic nerve chronic constriction injury (CCI were given intraperitoneal injection of NaHS containing hydrogen sulfide (H2S. The experimental results showed that NaHS inhibited the reduction of paw withdrawal thermal latency (PWTL, mechanical withdrawal threshold (MWT, and the level of pCREB in CCI rats in a dose-dependent manner and they were greatly decreased in NaHSM group (P < 0.05. NaHS alleviates chronic neuropathic pain by inhibiting expression of pCREB in the spinal cord of Sprague-Dawley rats.

  20. Suspended particle transport through constriction channel with Brownian motion

    Science.gov (United States)

    Hanasaki, Itsuo; Walther, Jens H.

    2017-08-01

    It is well known that translocation events of a polymer or rod through pores or narrower parts of micro- and nanochannels have a stochastic nature due to the Brownian motion. However, it is not clear whether the objects of interest need to have a larger size than the entrance to exhibit the deviation from the dynamics of the surrounding fluid. We show by numerical analysis that the particle injection into the narrower part of the channel is affected by thermal fluctuation, where the particles have spherical symmetry and are smaller than the height of the constriction. The Péclet number (Pe) is the order parameter that governs the phenomena, which clarifies the spatio-temporal significance of Brownian motion compared to hydrodynamics. Furthermore, we find that there exists an optimal condition of Pe to attain the highest flow rate of particles relative to the dispersant fluid flow. Our finding is important in science and technology from nanopore DNA sequencers and lab-on-a-chip devices to filtration by porous materials and chromatography.

  1. Inhaled corticosteroids stabilize constrictive bronchiolitis after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Bashoura, L; Gupta, S; Jain, A; Couriel, D R; Komanduri, K V; Eapen, G A; Safdar, A; Broglio, K R; Adachi, R; Dickey, B F

    2008-01-01

    Post transplantation constrictive bronchiolitis (PTCB) is the most common pulmonary complication among long-term survivors of allogeneic hematopoietic stem cell transplantation (HSCT). It is a late manifestation of GVHD. Its treatment with high-dose systemic corticosteroids and other immunosuppressive regimens is associated with multiple side effects. Topical corticosteroids are used for the treatment of other manifestations of GVHD to minimize these side effects. We conducted a retrospective analysis of a series of adult patients to evaluate the efficacy of high-dose inhaled corticosteroids in the treatment of PTCB. Seventeen patients with new-onset airflow obstruction were diagnosed with PTCB. Their forced expiratory volume in 1 s (FEV1) declined from a median of 84% (range, 56-119) before HSCT to 53% (26-82) after HSCT. All patients received inhaled fluticasone propionate 500-940 microg two times daily. Symptoms of airway obstruction improved and FEV1 stabilized 3-6 months after treatment. We conclude that high-dose inhaled corticosteroids may be effective in the treatment of PTCB and propose a plausible mechanism of its action. A prospective evaluation of its efficacy is warranted.

  2. Indications, Results and Mortality of Pulmonary Artery Banding Procedure: a Brief Review and Five- year Experiences

    OpenAIRE

    Hamid Hoseinikhah; Aliasghar Moeinipour; Ahmadreza Zarifian; Mohammad Sobhan Sheikh Andalibi; Yasamin Moeinipour; Mohammad Abbassi Teshnisi; Abbas Bahreini

    2016-01-01

    Background Pulmonary artery banding (PAB) is a technique of palliative surgical therapy used by congenital heart surgeons as a staged approach to operative correction of congenital heart defects. Materials and Methods We report 5- year experiences from January 2011 to January 2016 of Imam Reza Hospital center (a tertiary referral hospital in Mashhad city, North East of Iran) that consist of 50 patients with congenital heart disease with left to right shunt that pulmonary artery banding proced...

  3. The big squeeze: scaling of constriction pressure in two of the world's largest snakes, Python reticulatus and Python molurus bivittatus.

    Science.gov (United States)

    Penning, David A; Dartez, Schuyler F; Moon, Brad R

    2015-11-01

    Snakes are important predators that have radiated throughout many ecosystems, and constriction was important in their radiation. Constrictors immobilize and kill prey by using body loops to exert pressure on their prey. Despite its importance, little is known about constriction performance or its full effects on prey. We studied the scaling of constriction performance in two species of giant pythons (Python reticulatus and Python molurus bivittatus) and propose a new mechanism of prey death by constriction. In both species, peak constriction pressure increased significantly with snake diameter. These and other constrictors can exert pressures dramatically higher than their prey's blood pressure, suggesting that constriction can stop circulatory function and perhaps kill prey rapidly by over-pressurizing the brain and disrupting neural function. We propose the latter 'red-out effect' as another possible mechanism of prey death from constriction. These effects may be important to recognize and treat properly in rare cases when constrictors injure humans.

  4. Re-examining Archie's law: Conductance description by tortuosity and constriction

    CERN Document Server

    Berg, Carl Fredrik

    2015-01-01

    In this article we investigate the electrical conductance of an insulating porous medium (e.g., a sedimentary rock) filled with an electrolyte (e.g., brine), usually described using the Archie cementation exponent. We show how the electrical conductance depends on changes in the drift velocity and the length of the electric field lines, in addition to the porosity and the conductance of the electrolyte. We characterized the length of the electric field lines by a tortuosity and the changes in drift velocity by a constriction factor. Both the tortuosity and the constriction factor are descriptors of the pore microstructure. We define a conductance reduction factor to measure the local contributions of the pore microstructure to the global conductance. It is shown that the global conductance reduction factor is the product of the tortuosity squared divided by the constriction factor, thereby proving that the combined effect of tortuosity and constriction, in addition to the porosity and conductance of the elect...

  5. Apical constriction: themes and variations on a cellular mechanism driving morphogenesis.

    Science.gov (United States)

    Martin, Adam C; Goldstein, Bob

    2014-05-01

    Apical constriction is a cell shape change that promotes tissue remodeling in a variety of homeostatic and developmental contexts, including gastrulation in many organisms and neural tube formation in vertebrates. In recent years, progress has been made towards understanding how the distinct cell biological processes that together drive apical constriction are coordinated. These processes include the contraction of actin-myosin networks, which generates force, and the attachment of actin networks to cell-cell junctions, which allows forces to be transmitted between cells. Different cell types regulate contractility and adhesion in unique ways, resulting in apical constriction with varying dynamics and subcellular organizations, as well as a variety of resulting tissue shape changes. Understanding both the common themes and the variations in apical constriction mechanisms promises to provide insight into the mechanics that underlie tissue morphogenesis.

  6. Quantifying Compressibility and Slip in Multiparticle Collision (MPC Flow Through a Local Constriction

    Directory of Open Access Journals (Sweden)

    Tahmina Akhter

    2014-01-01

    Full Text Available The flow of a compressible fluid with slip through a cylinder with an asymmetric local constriction has been considered both numerically, as well as analytically. For the numerical work, a particle-based method whose dynamics is governed by the multiparticle collision (MPC rule has been used together with a generalized boundary condition that allows for slip at the wall. Since it is well known that an MPC system corresponds to an ideal gas and behaves like a compressible, viscous flow on average, an approximate analytical solution has been derived from the compressible Navier–Stokes equations of motion coupled to an ideal gas equation of state using the Karman–Pohlhausen method. The constriction is assumed to have a polynomial form, and the location of maximum constriction is varied throughout the constricted portion of the cylinder. Results for centerline densities and centerline velocities have been compared for various Reynolds numbers, Mach numbers, wall slip values and flow geometries.

  7. Congenital short pancreas

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

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

  8. Congenital symmastia revisited

    DEFF Research Database (Denmark)

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

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  9. Quantitative visualization of asymmetric gas flow in constricted microchannels by using pressure-sensitive paint

    Science.gov (United States)

    Huang, Chih-Yung; Chen, Ying-Hsuan; Wan, Shaw-An; Wang, Yu-Chuan

    2016-10-01

    Asymmetric flow in constricted microchannel devices was quantitatively investigated using a pressure-sensitive paint (PSP) technique. For microchannel devices with constriction ratios of 2 : 1 and 5 : 1, detailed pressure maps for the region around the constriction structure were obtained and enabled visualization of the flow field. Symmetric flow was observed in the microchannel device with a constriction ratio of 2 : 1 at the Reynolds number range 2-165. In the microchannel with a constriction ratio of 5 : 1, a deflected flow pattern was clearly identified from PSP measurements at Reynolds numbers exceeding 107. Furthermore, PSP measurements showed a pressure difference of up to 2.5 kPa between the two lateral locations corresponding to y  =  ±0.15 W (W is the microchannel width) downstream of the constriction at a Reynolds number of 279. The pressure difference resulted from asymmetric bifurcation of the flow.

  10. Prevalence, hemodynamics, and cytokine profile of effusive-constrictive pericarditis in patients with tuberculous pericardial effusion.

    Directory of Open Access Journals (Sweden)

    Mpiko Ntsekhe

    Full Text Available BACKGROUND: Effusive constrictive pericarditis (ECP is visceral constriction in conjunction with compressive pericardial effusion. The prevalence of proven tuberculous ECP is unknown. Whilst ECP is distinguished from effusive disease on hemodynamic grounds, it is unknown whether effusive-constrictive physiology has a distinct cytokine profile. We conducted a prospective study of prevalence and cytokine profile of effusive-constrictive disease in patients with tuberculous pericardial effusion. METHODS: From July 2006 through July 2009, the prevalence of ECP and serum and pericardial levels of inflammatory cytokines were determined in adults with tuberculous pericardial effusion. The diagnosis of ECP was made by combined pericardiocentesis and cardiac catheterization. RESULTS: Of 91 patients evaluated, 68 had tuberculous pericarditis. The 36/68 patients (52.9%; 95% confidence interval [CI]: 41.2-65.4 with ECP were younger (29 versus 37 years, P=0.02, had a higher pre-pericardiocentesis right atrial pressure (17.0 versus 10.0 mmHg, P 15 mmHg (odds ratio [OR] = 48, 95%CI: 8.7-265; P 200 pg/ml (OR=10, 95%CI: 1.1, 93; P=0.04 were independently associated with ECP. CONCLUSION: Effusive-constrictive disease occurs in half of cases of tuberculous pericardial effusion, and is characterized by greater elevation in the pre-pericardiocentesis right atrial pressure and pericardial and serum IL-10 levels compared to patients with effusive non-constrictive tuberculous pericarditis.

  11. Apical constriction initiates new bud formation during monopodial branching of the embryonic chicken lung

    Science.gov (United States)

    Kim, Hye Young; Varner, Victor D.; Nelson, Celeste M.

    2013-01-01

    Branching morphogenesis sculpts the airway epithelium of the lung into a tree-like structure to conduct air and promote gas exchange after birth. In the avian lung, a series of buds emerges from the dorsal surface of the primary bronchus via monopodial branching to form the conducting airways; anatomically, these buds are similar to those formed by domain branching in the mammalian lung. Here, we show that monopodial branching is initiated by apical constriction of the airway epithelium, and not by differential cell proliferation, using computational modeling and quantitative imaging of embryonic chicken lung explants. Both filamentous actin and phosphorylated myosin light chain were enriched at the apical surface of the airway epithelium during monopodial branching. Consistently, inhibiting actomyosin contractility prevented apical constriction and blocked branch initiation. Although cell proliferation was enhanced along the dorsal and ventral aspects of the primary bronchus, especially before branch formation, inhibiting proliferation had no effect on the initiation of branches. To test whether the physical forces from apical constriction alone are sufficient to drive the formation of new buds, we constructed a nonlinear, three-dimensional finite element model of the airway epithelium and used it to simulate apical constriction and proliferation in the primary bronchus. Our results suggest that, consistent with the experimental results, apical constriction is sufficient to drive the early stages of monopodial branching whereas cell proliferation is dispensable. We propose that initial folding of the airway epithelium is driven primarily by apical constriction during monopodial branching of the avian lung. PMID:23824575

  12. Genetics Home Reference: Leber congenital amaurosis

    Science.gov (United States)

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

  13. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

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

  14. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

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

  15. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    Speiser, Phyllis W

    2015-01-01

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

  16. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Acharya K

    1996-01-01

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

  17. Congenital lobar emphysema

    Science.gov (United States)

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

    2016-01-01

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

  18. Congenital tracheobiliary fistula.

    NARCIS (Netherlands)

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

    2010-01-01

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

  19. Congenital adrenal hyperplasia

    Science.gov (United States)

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

  20. Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients.

    Science.gov (United States)

    Hong, Haifa; Xia, Yu; Sun, Yanjun; Ye, Lincai; Liu, Jinfen; Bai, Jie; Zhang, Haibo

    2015-04-01

    Patency of the ductus arteriosus (DA) after birth is essential in ductal-dependent congenital heart disease. The Na(+)/Ca(2+) exchanger (NCX) has been demonstrated to play a key role in regulating vascular tone. The potassium-dependent Na(+)/Ca(2+) exchanger (NCKX) is a related family of NCX depending on the K(+) gradients which triggers DA constriction. The present study investigated the comparative expression of NCX and NCKX between a constricted DA and patent DA in human ductal-dependant congenital heart disease. Human DAs, which were patent (n = 10, age = 20.2 ± 4.3 days) or constricted (n = 10, age = 18.3 ± 3.9 days), were excised during surgery from neonates with ductal-dependent congenital heart disease. Western blotting analysis, real-time quantitative polymerase chain reaction analysis and immunofluorescence studies were performed to detect the protein and mRNA levels of NCX1, NCKX3, and NCKX4. The expressions of NCX1 and NCKX4 were significantly higher in the patent DA group at both the protein and mRNA levels, and expression was localized to the smooth muscle layer. These findings indicate that NCX1 and NCKX4 are up-regulated in human postnatal patent DAs and may represent potential therapeutic targets for maintaining DA patency in ductal-dependent congenital heart disease.

  1. Congenital imprinting disorders

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  2. Genetics of Congenital Cataract.

    Science.gov (United States)

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

    2016-01-01

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

  3. Ascending aortic constriction in rats for creation of pressure overload cardiac hypertrophy model.

    Science.gov (United States)

    Gs, Ajith Kumar; Raj, Binil; Santhosh, Kumar S; Sanjay, G; Kartha, Chandrasekharan Cheranellore

    2014-06-29

    Ascending aortic constriction is the most common and successful surgical model for creating pressure overload induced cardiac hypertrophy and heart failure. Here, we describe a detailed surgical procedure for creating pressure overload and cardiac hypertrophy in rats by constriction of the ascending aorta using a small metallic clip. After anesthesia, the trachea is intubated by inserting a cannula through a half way incision made between two cartilage rings of trachea. Then a skin incision is made at the level of the second intercostal space on the left chest wall and muscle layers are cleared to locate the ascending portion of aorta. The ascending aorta is constricted to 50-60% of its original diameter by application of a small sized titanium clip. Following aortic constriction, the second and third ribs are approximated with prolene sutures. The tracheal cannula is removed once spontaneous breathing was re-established. The animal is allowed to recover on the heating pad by gradually lowering anesthesia. The intensity of pressure overload created by constriction of the ascending aorta is determined by recording the pressure gradient using trans-thoracic two dimensional Doppler-echocardiography. Overall this protocol is useful to study the remodeling events and contractile properties of the heart during the gradual onset and progression from compensated cardiac hypertrophy to heart failure stage.

  4. Baclofen reversed thermal place preference in rats with chronic constriction injury.

    Science.gov (United States)

    Salte, K; Lea, G; Franek, M; Vaculin, S

    2016-06-20

    Chronic constriction injury to the sciatic nerve was used as an animal model of neuropathic pain. Instead of frequently used reflex-based tests we used an operant thermal place preference test to evaluate signs of neuropathic pain and the effect of baclofen administration in rats with neuropathy. Chronic constriction injury was induced by four loose ligations of the sciatic nerve. Thermal place preference (45 °C vs. 22 °C and 45 °C vs. 11 °C) was measured after the ligation and after the administration of baclofen in sham and experimental rats. Rats with the chronic constriction injury spent significantly less time on the colder plate compared to sham operated animals at the combination 45 °C vs. 11 °C. After administration of baclofen (10 mg/kg s.c.), the aversion to the colder plate in rats with chronic constriction injury disappeared. At the combination 45 °C vs. 22 °C, no difference in time spent on colder and/or warmer plate was found between sham and experimental animals. These findings show the importance of cold allodynia evaluation in rats with chronic constriction injury and the effectiveness of baclofen in this neuropathic pain model.

  5. Modeling the dynamics of airway constriction: effects of agonist transport and binding.

    Science.gov (United States)

    Amin, Samir D; Majumdar, Arnab; Frey, Urs; Suki, Béla

    2010-08-01

    Recent advances have revealed that during exogenous airway challenge, airway diameters cannot be adequately predicted by their initial diameters. Furthermore, airway diameters can also vary greatly in time on scales shorter than a breath. To better understand these phenomena, we developed a multiscale model that allowed us to simulate aerosol challenge in the airways during ventilation. The model incorporates agonist-receptor binding kinetics to govern the temporal response of airway smooth muscle contraction on individual airway segments, which, together with airway wall mechanics, determines local airway caliber. Global agonist transport and deposition are coupled with pressure-driven flow, linking local airway constrictions with global flow dynamics. During the course of challenge, airway constriction alters the flow pattern, redistributing the agonist to less constricted regions. This results in a negative feedback that may be a protective property of the normal lung. As a consequence, repetitive challenge can cause spatial constriction patterns to evolve in time, resulting in a loss of predictability of airway diameters. Additionally, the model offers new insights into several phenomena including the intra- and interbreath dynamics of airway constriction throughout the tree structure.

  6. Constriction of current lines for a porous electrode and effect on electrolyte resistance

    Energy Technology Data Exchange (ETDEWEB)

    Van Heuveln, F.H.; Burgers, A.R.; Bouwmeester, H.J.M.

    1998-04-01

    The electrodes generally considered for use in a Solid Oxide Fuel Cell (SOFC) consist of a porous structure on top of a dense electrolyte. The porous electrode may be viewed as a mesh of point contacts. Neglecting oxygen transport through the electrode material, the electrode reaction is confined to the three-phase boundary zone located at the perimeter of the point contacts. This results in a constriction of the current lines in the electrolyte. The associated increase of the apparent electrolyte resistance is referred to as the constriction resistance. In this study, the constriction resistance was calculated for a conducting ring-like geometry of the point contact using a finite element method. The ring mimics the actual three-phase-boundary (tpb) area. An empirical relation was derived for the constriction resistance. The width of the ring and the distance between nearest-neighbour rings were varied in the calculations. The numerical results are compared with those obtained for a circular contact and with experimental data for the constriction resistance of porous strontium-doped LaMnO3 electrodes on stabilised zirconia. 10 refs.

  7. Adults with Congenital Heart Defects

    Science.gov (United States)

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

  8. Congenital tracheobronchial stenosis.

    Science.gov (United States)

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

    2016-06-01

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

  9. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

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

  10. Congenital Syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-06-01

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

  11. Congenital right hemidiaphragmatic agenesis

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2012-01-01

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

  12. Congenital right hemidiaphragmatic agenesis.

    Science.gov (United States)

    Mirza, Bilal; Bashir, Zahid; Sheikh, Afzal

    2012-01-01

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

  13. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

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

    2001-01-01

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

  14. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

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

  15. Congenital Heart Defects (For Parents)

    Science.gov (United States)

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

  16. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  17. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    Hampton, Marissa Martinez

    2015-01-01

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

  18. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

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

    1991-03-15

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

  19. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

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

  20. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

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

  1. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

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

  2. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  3. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

    Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

  4. Apical domain polarization localizes actin-myosin activity to drive ratchet-like apical constriction.

    Science.gov (United States)

    Mason, Frank M; Tworoger, Michael; Martin, Adam C

    2013-08-01

    Apical constriction promotes epithelia folding, which changes tissue architecture. During Drosophila gastrulation, mesoderm cells exhibit repeated contractile pulses that are stabilized such that cells apically constrict like a ratchet. The transcription factor Twist is required to stabilize cell shape. However, it is unknown how Twist spatially coordinates downstream signals to prevent cell relaxation. We find that during constriction, Rho-associated kinase (Rok) is polarized to the middle of the apical domain (medioapical cortex), separate from adherens junctions. Rok recruits or stabilizes medioapical myosin II (Myo-II), which contracts dynamic medioapical actin cables. The formin Diaphanous mediates apical actin assembly to suppress medioapical E-cadherin localization and form stable connections between the medioapical contractile network and adherens junctions. Twist is not required for apical Rok recruitment, but instead polarizes Rok medioapically. Therefore, Twist establishes radial cell polarity of Rok/Myo-II and E-cadherin and promotes medioapical actin assembly in mesoderm cells to stabilize cell shape fluctuations.

  5. Oil-in-water emulsions flow through constricted micro-capillarities

    Energy Technology Data Exchange (ETDEWEB)

    Castillo, Oswaldo Robles; Carvalho, Marcio da Silveira [Pontificia Universidade Catolica do Rio de Janeiro (PUC-Rio), RJ (Brazil). Dept. of Mechanical Engineering

    2010-07-01

    The effect of the oil concentration and the drop size distribution on the characteristics of the flow of an emulsion through a constricted capillary was experimentally analyzed and quantified by the ratio of the pressure drop of the continuous phase flow to the pressure drop of the emulsion flow, at the same flow rate. The results confirm that the ratio between the capillary constriction diameter and the oil drop size is one of the most important parameters for this flow. For large oil drop size emulsions, the deformation of the drop as it flows through the constriction leads to a high extra pressure drop at low capillary numbers. For small oil drop size emulsions, the extra pressure drop is a function of the viscosity ratio and the disperse phase concentration. (author)

  6. Analysis of the trajectory of a sphere moving through a geometric constriction

    CERN Document Server

    Risbud, Sumedh R; Frechette, Joelle; Drazer, German

    2013-01-01

    We present a numerical study of the effect of inertia on suspended particles moving through a geometric constriction to understand the behavior of particles in analogous microfluidic settings, such as pinched flow fractionation devices. The particles are driven by a constant force in a quiescent fluid, and the constriction (the pinching gap) corresponds to the space between a plane wall and a second, fixed sphere of the same size (the obstacle). The results show that, due to the effect of inertia and geometric constriction (individual or combined) the particles attain smaller surface-to-surface separations from the obstacle. We then relate the minimum surface-to-surface separation to the effect that the short-range repulsive non-hydrodynamic interactions (such as solid-solid contact due to surface roughness, electrostatic double layer repulsion, etc.) would have on the particle trajectories. In particular, using a simple hard-core repulsive potential model for such interactions, we infer that the particles wo...

  7. Revisiting the Nelson-Morfey scaling law for flow noise from duct constrictions

    Science.gov (United States)

    Kårekull, Oscar; Efraimsson, Gunilla; Åbom, Mats

    2015-11-01

    The semi-empirical scaling law by Nelson and Morfey [1] predicts the noise generation from constrictions in ducts with low Mach number flows. The results presented here demonstrate that the original model loses accuracy for constrictions of high pressure loss. A generalization based on a momentum flux assumption of the dipole forces is suggested and is evaluated against measurement results for orifice geometries of higher pressure loss than earlier evaluated. A prediction model including constrictions at flow duct terminations is also suggested. Improved accuracy for the predictions of the new model is found for orifice geometries of high pressure loss inside and at the end of ducts. The extended model is finally evaluated by measurements on a regular ventilation air terminal device.

  8. Nitric oxide alterations following acute ductal constriction in the fetal lamb: a role for superoxide.

    Science.gov (United States)

    Hsu, Jong-Hau; Oishi, Peter; Wiseman, Dean A; Hou, Yali; Chikovani, Omar; Datar, Sanjeev; Sajti, Eniko; Johengen, Michael J; Harmon, Cynthia; Black, Stephen M; Fineman, Jeffrey R

    2010-06-01

    Acute partial compression of the fetal ductus arteriosus (DA) results in an initial abrupt increase in pulmonary blood flow (PBF), which is followed by a significant reduction in PBF to baseline values over the ensuing 2-4 h. We have previously demonstrated that this potent vasoconstricting response is due, in part, to an endothelin-1 (ET-1)-mediated decrease in nitric oxide synthase (NOS) activity. In addition, in vitro data demonstrate that ET-1 increases superoxide levels in pulmonary arterial smooth muscle cells and that oxidative stress alters NOS activity. Therefore, the objectives of this study were to determine the potential role of superoxide in the alterations of hemodynamics and NOS activity following acute ductal constriction in the late-gestation fetal lamb. Eighteen anesthetized near-term fetal lambs were instrumented, and a lung biopsy was performed. After a 48-h recovery, acute constriction of the DA was performed by inflating a vascular occluder. Polyethylene glycol-superoxide dismutase (PEG-SOD; 1,000-1,500 units/kg, n = 7) or PEG-alone (vehicle control group, n = 5) was injected into the pulmonary artery before ductal constriction. Six animals had a sham operation. In PEG-alone-treated lambs, acute ductal constriction rapidly decreased pulmonary vascular resistance (PVR) by 88%. However, by 4 h, PVR returned to preconstriction baseline. This vasoconstriction was associated with an increase in lung superoxide levels (82%), a decrease in total NOS activity (50%), and an increase in P-eNOS-Thr495 (52%) (P < 0.05). PEG-SOD prevented the increase of superoxide after ductal constriction, attenuated the vasoconstriction, preserved NOS activity, and increased P-eNOS Ser1177 (307%, P < 0.05). Sham procedure induced no changes. These data suggest that an acute decrease in NOS activity that is mediated, in part, by increased superoxide levels, and alterations in the phosphorylation status of the endothelial NOS isoform, underlie the pulmonary vascular

  9. Mechanotransduction in mechanically coupled pulsating cells: transition to collective constriction and mesoderm invagination simulation

    Science.gov (United States)

    Driquez, Benjamin; Bouclet, Adrien; Farge, Emmanuel

    2011-12-01

    Embryonic differentiation and morphogenesis require the coordination of the cascades of gene product expression with the morphogenetic sequence of development. The influence of mechanical deformations driven by morphogenetic movements on biochemical activities was recently revealed by the existence of mechanotransduction processes in development, involving both gene transcription and protein behaviour. In the early Drosophila embryo, apical stabilization of Myosin-II leading to mesoderm invagination at the onset of gastrulation was proposed to be triggered in response to the activation of the Fog mechanotransduction pathway by the Snail-dependent active mechanical oscillations of cell apex sizes. Here we simulate the mesoderm as mechanically coupled cells, with pulsatile forces of constriction at the cell level mimicking Snail-dependent active fluctuations of apexes. We define a critical apex diameter triggering active constriction that mimics the activation of the Fog mechanotransduction pathway leading to cell constriction. We find that collective movements trigger the dynamical transition to constriction predicting the experimental dynamics of mesoderm cell apex size decrease with a modulus of contractility four times higher than the passive modulus of elastic deformation of the cells. The contraction wave is activated in a pulsation frequency-dependent process, and propagates at multicellular scales through local cell-cell mechanical interactions. By reproducing the pattern of Snail and Fog gene product protein expression in a simulation of ventral cells, the model phenocopies the pattern of Myo-II apical stabilization, and the dynamic pattern of constriction that initiates along a central sub-domain of the mesoderm. We propose that multicellular mechanical collective effects couple with mechanotransduction biochemical mechanisms to trigger the transition of collective coordinated constriction, through a mechano-genetic process ensuring efficient and regular

  10. Numerical simulation of passage of a neutrophil through a rectangular channel with a moderate constriction.

    Directory of Open Access Journals (Sweden)

    Atsushi Shirai

    Full Text Available The authors have previously presented a mathematical model to predict transit time of a neutrophil through an alveolar capillary segment which was modeled as an axisymmetric arc-shaped constriction settled in a cylindrical straight pipe to investigate the influence of entrance curvature of a capillary on passage of the cell. The axially asymmetric cross section of a capillary also influences the transit time because it requires three-dimensional deformation of a cell when it passes through the capillary and could lead to plasma leakage between the cell surface and the capillary wall. In this study, a rectangular channel was introduced, the side walls of which were moderately constricted, as a representative of axially asymmetric capillaries. Dependence of transit time of a neutrophil passing through the constriction on the constriction geometry, i.e., channel height, throat width and curvature radius of the constriction, was numerically investigated, the transit time being compared with that through the axisymmetric model. It was found that the transit time is dominated by the throat hydraulic diameter and curvature radius of the constriction and that the throat aspect ratio little affects the transit time with a certain limitation, indicating that if an appropriate curvature radius is chosen, such a rectangular channel model can be substituted for an axisymmetric capillary model having the same throat hydraulic diameter in terms of the transit time by choosing an appropriate curvature radius. Thus, microchannels fabricated by the photolithography technique, whose cross section is generally rectangular, are expected to be applicable to in vitro model experiments of neutrophil retention and passage in the alveolar capillaries.

  11. Mechanotransduction in mechanically coupled pulsating cells: transition to collective constriction and mesoderm invagination simulation.

    Science.gov (United States)

    Driquez, Benjamin; Bouclet, Adrien; Farge, Emmanuel

    2011-12-01

    Embryonic differentiation and morphogenesis require the coordination of the cascades of gene product expression with the morphogenetic sequence of development. The influence of mechanical deformations driven by morphogenetic movements on biochemical activities was recently revealed by the existence of mechanotransduction processes in development, involving both gene transcription and protein behaviour. In the early Drosophila embryo, apical stabilization of Myosin-II leading to mesoderm invagination at the onset of gastrulation was proposed to be triggered in response to the activation of the Fog mechanotransduction pathway by the Snail-dependent active mechanical oscillations of cell apex sizes. Here we simulate the mesoderm as mechanically coupled cells, with pulsatile forces of constriction at the cell level mimicking Snail-dependent active fluctuations of apexes. We define a critical apex diameter triggering active constriction that mimics the activation of the Fog mechanotransduction pathway leading to cell constriction. We find that collective movements trigger the dynamical transition to constriction predicting the experimental dynamics of mesoderm cell apex size decrease with a modulus of contractility four times higher than the passive modulus of elastic deformation of the cells. The contraction wave is activated in a pulsation frequency-dependent process, and propagates at multicellular scales through local cell-cell mechanical interactions. By reproducing the pattern of Snail and Fog gene product protein expression in a simulation of ventral cells, the model phenocopies the pattern of Myo-II apical stabilization, and the dynamic pattern of constriction that initiates along a central sub-domain of the mesoderm. We propose that multicellular mechanical collective effects couple with mechanotransduction biochemical mechanisms to trigger the transition of collective coordinated constriction, through a mechano-genetic process ensuring efficient and regular

  12. Gas-dynamic disturbances created by surface dielectric barrier discharge in the constricted mode

    Science.gov (United States)

    Moralev, I.; Boytsov, S.; Kazansky, P.; Bityurin, V.

    2014-05-01

    Three-dimensional structure of the gas-dynamic disturbances, created by surface dielectric barrier discharge in a constricted (saturated) mode, was analyzed simultaneously with the discharge morphology. Discharge was created in the still air under normal conditions. Flow visualization was performed by shadowgraphy and stereo-PIV technique. The wall-normal jets with the origins located in between the positions of the constricted filaments are found. Velocity magnitude in the wall-normal direction is comparable with the tangential component. Flow structure is similar to the one created by the serpentine actuator.

  13. Densely calcified tuberculous constrictive pericarditis with concurrent active pulmonary tuberculosis infection

    Directory of Open Access Journals (Sweden)

    S Laudari

    2015-07-01

    Full Text Available Though pulmonary tuberculosis is a common chronic infection in the developing countries like Nepal, the incidence of tubercular constrictive pericarditis is very low. Here we report a patient of active pulmonary tuberculosis with sputum positive for acid fast bacilli along with densely calcified constrictive pericarditis which has been reported as a very rare presentation in the literature.DOI: http://dx.doi.org/10.3126/jcmsn.v10i2.12955 Journal of College of Medical Sciences-Nepal, 2014, Vol.10(2; 41-43

  14. Simulation Research of Magnetic Constriction Effect and Controlling by Axial Magnetic Field of Vacuum Arc

    Institute of Scientific and Technical Information of China (English)

    王立军; 贾申利; 史宗谦; 荣命哲

    2005-01-01

    Based on magnetohydrodynamic (MHD) model of vacuum arc, the computer simulation of vacuum arc was carried out in this paper. In the MHD model, mass conservation equation,momentum conservation equations, energy conservation equations, generalized ohm's law and Maxwell equation were considered. MHD equations were calculated by numerical method, and the distribution of vacuum arc plasma parameters and current density were obtained. Simulation results showed that the magnetic constriction effect of vacuum arc is primarily caused by the Hall effect. In addition, the inhibition of axial magnetic field (AMF) on constriction of vacuum arc was calculated and analyzed.

  15. Pseudoamblyopia in Congenital Cyclotropia

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    Antonio Frattolillo

    2017-01-01

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

  16. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

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

  17. Congenital Erythropoietic Porphyria (CEP)

    Science.gov (United States)

    ... gov Website: http://www2.niddk.nih.gov/ References JOURNAL ARTICLES Christiansen AL, Aagaard L, Krag A, Rasmussen ... homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic ... a Doctor Clinical Studies Porphyria featured Television and Other Media AIP ...

  18. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Pavithran K

    1992-01-01

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

  19. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  20. Congenital Heart Information Network

    Science.gov (United States)

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

  1. Congenital contractural arachnodactyly.

    Science.gov (United States)

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

    1976-06-01

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

  2. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

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

  3. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

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

    2002-10-01

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

  4. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

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

  5. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

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

  6. Four-terminal magnetoresistance of a two-dimensional electron-gas constriction in the ballistic regime

    NARCIS (Netherlands)

    Houten, H. van; Beenakker, C.W.J.; Loosdrecht, P.H.M. van; Thornton, T.J.; Ahmed, H.; Pepper, M.; Foxon, C.T.; Harris, J.J.

    1988-01-01

    A novel negative magnetoresistance effect is found in four-terminal measurements of the voltage drop across a short constriction of variable width in a high-mobility two-dimensional electron gas. The effect is interpreted as the suppression by a magnetic field of the geometrical constriction resista

  7. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    DEFF Research Database (Denmark)

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K.

    2012-01-01

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high‐resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub‐band 8p23.1. We confirm a regio...

  8. Ameliorative potential of Ocimum sanctum in chronic constriction injury-induced neuropathic pain in rats

    Directory of Open Access Journals (Sweden)

    GURPREET KAUR

    2015-03-01

    Full Text Available The present study was designed to investigate the ameliorative potential of Ocimumsanctum and its saponin rich fraction in chronic constriction injury-induced neuropathic pain in rats. The chronic constriction injury was induced by placing four loose ligatures around the sciatic nerve, proximal to its trifurcation. The mechanical hyperalgesia, cold allodynia, paw heat hyperalgesia and cold tail hyperalgesia were assessed by performing the pinprick, acetone, hot plate and cold tail immersion tests, respectively. Biochemically, the tissue thio-barbituric acid reactive species, super-oxide anion content (markers of oxidative stress and total calcium levels were measured. Chronic constriction injury was associated with the development of mechanical hyperalgesia, cold allodynia, heat and cold hyperalgesia along with an increase in oxidative stress and calcium levels. However, administration of Ocimumsanctum (100 and 200 mg/kg p.o. and its saponin rich fraction (100 and 200 mg/kg p.o. for 14 days significantly attenuated chronic constriction injury-induced neuropathic pain as well as decrease the oxidative stress and calcium levels. It may be concluded that saponin rich fraction of Ocimum sanctum has ameliorative potential in attenuating painful neuropathic state, which may be attributed to a decrease in oxidative stress and calcium levels.

  9. Alteration of cardiac ACE2/Mas expression and cardiac remodelling in rats with aortic constriction.

    Science.gov (United States)

    Zhang, Yanling; Li, Bing; Wang, Bingxiangi; Zhang, Jingjun; Wu, Junyan; Morgan, Trefor

    2014-12-31

    The recent discovery of the new components of the renin-angiotensin system (RAS) suggests the importance of the maintenance of cardiovascular structure and functions. To assess the role of the angiotensin-converting enzyme 2 (ACE2)-Mas receptor axis in the regulation of cardiac structure and function, the present work investigated the expression of ACE2 and Mas receptor in the heart in the cardiac remodeling that occurs in aortic constricted rats. Partial abdominal aortic ligation was carried out in Sprague-Dawley rats. Angiotensin AT1 receptor blockade and ACE inhibition were achieved by losartan and enalapril treatment, respectively. Results showed that aortic constriction increased left ventricular hypertrophy, fibrosis, mean arterial pressure (MAP), plasma renin activity (PRA) and cardiac ACE levels, but decreased the expression of cardiac ACE2 and Mas receptor. Losartan treatment significantly decreased MAP, left ventricle hypertrophy (LVH), fibrosis, and increased cardiac ACE2 and Mas expression. Enalapril also improved the cardiac parameters with a rise in cardiac ACE2, but did not change the Mas level. In conclusion, aortic constriction results in cardiac hypertrophy, fibrosis and a rise of cardiac ACE expression. Both AT1 receptor blocker and ACE inhibitor play a cardioprotective role in aortic constriction. However, AT1 receptor blocker particularly promotes cardiac ACE2 and Mas receptor levels. ACE inhibitor is associated with the inhibition of ACE and normalization of cardiac ACE2 activity.

  10. Coordination of peptidoglycan synthesis and outer membrane constriction during Escherichia coli cell division

    NARCIS (Netherlands)

    Gray, A.N.; Egan, A.J.F.; van 't Veer, I.L.; Verheul, J.; Colavin, A.; Koumoutsi, A.; Biboy, J.; Altelaar, A.F.M.; Damen, M.J.; Huang, K.C.; Simorre, J.P.; Breukink, E.; den Blaauwen, T.; Typas, A.; Gross, C.A.; Vollmer, W.

    2015-01-01

    To maintain cellular structure and integrity during division, Gram-negative bacteria must carefully coordinate constriction of a tripartite cell envelope of inner membrane, peptidoglycan (PG), and outer membrane (OM). It has remained enigmatic how this is accomplished. Here, we show that envelope ma

  11. Does pupil constriction under blue and green monochromatic light exposure change with age?

    Science.gov (United States)

    Daneault, Véronique; Vandewalle, Gilles; Hébert, Marc; Teikari, Petteri; Mure, Ludovic S; Doyon, Julien; Gronfier, Claude; Cooper, Howard M; Dumont, Marie; Carrier, Julie

    2012-06-01

    Many nonvisual functions are regulated by light through a photoreceptive system involving melanopsin-expressing retinal ganglion cells that are maximally sensitive to blue light. Several studies have suggested that the ability of light to modulate circadian entrainment and to induce acute effects on melatonin secretion, subjective alertness, and gene expression decreases during aging, particularly for blue light. This could contribute to the documented changes in sleep and circadian regulatory processes with aging. However, age-related modification in the impact of light on steady-state pupil constriction, which regulates the amount of light reaching the retina, is not demonstrated. We measured pupil size in 16 young (22.8±4 years) and 14 older (61±4.4 years) healthy subjects during 45-second exposures to blue (480 nm) and green (550 nm) monochromatic lights at low (7×10(12) photons/cm2/s), medium (3×10(13) photons/cm2/s), and high (10(14) photons/cm2/s) irradiance levels. Results showed that young subjects had consistently larger pupils than older subjects for dark adaptation and during all light exposures. Steady-state pupil constriction was greater under blue than green light exposure in both age groups and increased with increasing irradiance. Surprisingly, when expressed in relation to baseline pupil size, no significant age-related differences were observed in pupil constriction. The observed reduction in pupil size in older individuals, both in darkness and during light exposure, may reduce retinal illumination and consequently affect nonvisual responses to light. The absence of a significant difference between age groups for relative steady-state pupil constriction suggests that other factors such as tonic, sympathetic control of pupil dilation, rather than light sensitivity per se, account for the observed age difference in pupil size regulation. Compared to other nonvisual functions, the light sensitivity of steady-state pupil constriction appears to

  12. Does pupil constriction under blue and green monochromatic light exposure change with age?

    Science.gov (United States)

    Daneault, Véronique; Vandewalle, Gilles; Hébert, Marc; Teikari, Petteri; Mure, Ludovic S.; Doyon, Julien; Gronfier, Claude; Cooper, Howard M.; Dumont, Marie; Carrier, Julie

    2017-01-01

    Many non-visual functions are regulated by light through a photoreceptive system involving melanopsin-expressing retinal ganglion cells that are maximally sensitive to blue light. Several studies have suggested that the ability of light to modulate circadian entrainment and to induce acute effects on melatonin secretion, subjective alertness and gene expression, decreases during aging, particularly for blue light. This could contribute to the documented changes in sleep and circadian regulatory processes with aging. However, age-related modification in the impact of light on steady-state pupil constriction, which regulates the amount of light reaching the retina, is not demonstrated. We measured pupil size in 16 young (22.8±4y) and 14 older (61±4.4y) healthy subjects during 45s exposures to blue (480nm) and green (550nm) monochromatic lights at low (7×1012 photons/cm2/s), medium (3×1013 photons/cm2/s), and high (1014 photons/cm2/s) irradiance levels. Results showed that young subjects had consistently larger pupils than older subjects, for dark adaptation and during all light exposures. Steady-state pupil constriction was greater under blue than green light exposure in both age groups and increased with increasing irradiance. Surprisingly, when expressed in relation to baseline pupil size, no significant age-related differences were observed in pupil constriction. The observed reduction in pupil size in older individuals, both in darkness and during light exposure, may reduce retinal illumination and consequently affect non-visual responses to light. The absence of a significant difference between age groups for relative steady-state pupil constriction suggests that other factors such as tonic, sympathetic control of pupil dilation, rather than light sensitivity per se, account for the observed age difference in pupil size regulation. Compared to other nonvisual functions, the light sensitivity of steady-state pupil constriction appears to remain relatively

  13. Congenital Pouch Colon

    Directory of Open Access Journals (Sweden)

    Vivek Gharpure

    2012-07-01

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

  14. Fetal congenital lobar emphysema.

    Science.gov (United States)

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

    2007-03-01

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

  15. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

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

    2014-09-01

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

  16. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

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

  17. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

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

  18. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-01-15

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

  19. Congenital alopecia universalis

    Directory of Open Access Journals (Sweden)

    Vicente de Jesús Alvarez Yabor

    2015-11-01

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

  20. Band Together!

    Science.gov (United States)

    Olson, Cathy Applefeld

    2011-01-01

    After nearly a decade as band director at St. James High School in St. James, Missouri, Derek Limback knows that the key to building a successful program is putting the program itself above everything else. Limback strives to augment not only his students' musical prowess, but also their leadership skills. Key to his philosophy is instilling a…

  1. Congenital scoliosis - Quo vadis?

    Directory of Open Access Journals (Sweden)

    Debnath Ujjwal

    2010-01-01

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

  2. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    2011-01-01

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

  3. [Gangrene of the penis due to strangulation by a rubber band: a case report].

    Science.gov (United States)

    Sasaki, Yutaro; Oda, Shinpei; Fujikata, Shiro; Tanimoto, Shuji; Kan, Masaharu

    2014-03-01

    We report a case of strangulation of the penis by a rubber band. A 79-year-old man placed a rubber band tightly around the corona of his glans penis in order to prevent urinary incontinence. After five days, he was taken to our hospital in an ambulance for high temperature and general malaise. We found the rubber band and removed it immediately. Gangrene of the penis continued and he did not recover from sepsis, so we performed partial penectomy. After the operation, he completely recovered. Penile strangulation using a soft constricting object such as a rubber band might result in severe complications and we should be careful.

  4. Congenital syphilis, still a reality.

    Science.gov (United States)

    Gupta, Rajat; Vora, Rita V

    2013-01-01

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

  5. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

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

    2005-01-01

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

  6. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

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

  7. Duodenal Obstruction from Congenital Bands: An Unusual Cause of Pancreatitis

    Directory of Open Access Journals (Sweden)

    JD Just

    1996-01-01

    Full Text Available Acute pancreatitis in children has many different causes. An unusual case of pancreatitis is presented, along with a review of some of the factors associated with pancreatitis in children. The probable pathogenesis of pancreatitis in this case is also discussed.

  8. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

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

  9. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

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

  10. Protein patterns of brush-border fragments in congenital lactose malabsorption and in specific hypolactasia of the adult.

    Science.gov (United States)

    Freiburghaus, A U; Schmitz, J; Schindler, M; Rotthauwe, H W; Kuitunen, P; Launiala, K; Hadorn, B

    1976-05-06

    Brush-border membrane proteins of the small-bowel mucosa were separated on polyacrylamide gels from intestinal biopsy specimens obtained from four children with congenital lactose malabsorption and from two adults with specific hypolactasia. In three patients with the congenital type of lactase deficiency the protein band corresponding to brush-border lactase was reduced in intensity, but was never completely absent. No difference in gel patterns was detected when this pattern in congenital deficiency was compared to that obtained from the two patients with adult-type selective hypolactasia. In one patient with congenital lactose malabsorption the protein band corresponding to lactase activity was not detectable. The findings suggest that the mechanisms leading to low lactase activity in the congenital and adult forms of lactose intolerance are similar.

  11. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2016-12-08

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

  12. The Karyotypes,C-banding Patterns and AgNORs of Epinephelus malabaricus

    Institute of Scientific and Technical Information of China (English)

    Zou Jixing(邹记兴); Hu Chaoqun; Xiang Wenzhou; Yu Qixing; Zhou Fei

    2004-01-01

    The chromosome specimens of Epinephelus malabaricus (Bloch & Schneider, 1801) are obtained from metaphase of kindney cell by vivi-injection of PHA and culture of colchicines, hypatoic-air drying technique, and then by studying their Giemsa stain, C-bands and AgNORs. The results are as follows: (1)E. malabaricus has a diploid chromosome number of 48 and its karyotype formula is 48t, NF=48, sex chromosome is not found. (2) There is a pair of chromosomes with secondary constriction near the centromere of chromosome t24. (3) 1~4 nucleoli appear in the nucleus of interphase, 55% nuclei has 1 nucleolus and only 2% for 4 nucleoli. (4) AgNORs appear in the chromosome t24 of 50% metaphase, sometimes in the chromosome t5, but not in other chromosomes. (5) The AgNORs polymorphisms are individually specific, 1~4 pairs of the number, and the frequency of 4 AgNORs are lowest. (6) The secondary constrictions and positive C-bands are coincident, close to the centromere of the chromosome, and mass constrictive heterochromatins appear in that region. (7) All the centromeres of chromosomes are darkly stained C-bands, and the whole arm of chromosome t24 and its centromere are same positive C-bands. (8) The evolutive regulation of the karyotype and the developing mechanism of AgNORs and C-bands are discussed.

  13. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

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

  14. Imaging coherent transport in chemical vapor deposition graphene wide constriction by scanning gate microscopy

    Energy Technology Data Exchange (ETDEWEB)

    Chuang, Chiashain; Matsunaga, Masahiro; Ochiai, Yuichi; Aoki, Nobuyuki, E-mail: n-aoki@faculty.chiba-u.jp, E-mail: ctliang@phys.ntu.edu.tw [Graduate School of Advanced Integration Science, Chiba University, Chiba 263-8522 (Japan); Liu, Fan-Hung [Graduate Institute of Applied Physics, National Taiwan University, Taipei 106, Taiwan (China); Woo, Tak-Pong [Department of Physics, National Taiwan University, Taipei 106, Taiwan (China); Lin, Li-Hung [Department of Electrophysics, National Chiayi University, Chiayi 600, Taiwan (China); Oto, Kenichi [Graduate School of Science, Chiba University, Chiba 263-8522 (Japan); Liang, Chi-Te, E-mail: n-aoki@faculty.chiba-u.jp, E-mail: ctliang@phys.ntu.edu.tw [Graduate Institute of Applied Physics, National Taiwan University, Taipei 106, Taiwan (China); Department of Physics, National Taiwan University, Taipei 106, Taiwan (China)

    2016-03-21

    We use a scanning gate microscopy to perturb coherent transport in chemical vapor deposition (CVD) graphene wide constriction. Particularly, we observe conductance oscillations in the wide constriction region (W ∼ 800 nm) characterized by spatial conductance variations, which imply formation of the nanometer-scale ring structure due to the merged domains and intrinsic grain boundaries. Moreover, additional hot charges from high current can suppress the coherent transport, suggesting that the hot carriers with a wide spreading kinetic energy could easily tunnel merged domains and intrinsic grain boundaries in CVD-grown graphene due to the heating effect, a great advantage for applications in graphene-based interference-type nano-electronics.

  15. An optofluidic constriction chip for monitoring metastatic potential and drug response of cancer cells.

    Science.gov (United States)

    Martinez Vazquez, R; Nava, G; Veglione, M; Yang, T; Bragheri, F; Minzioni, P; Bianchi, E; Di Tano, M; Chiodi, I; Osellame, R; Mondello, C; Cristiani, I

    2015-04-01

    Cellular mechanical properties constitute good markers to characterize tumor cells, to study cell population heterogeneity and to highlight the effect of drug treatments. In this work, we describe the fabrication and validation of an integrated optofluidic chip capable of analyzing cellular deformability on the basis of the pressure gradient needed to push a cell through a narrow constriction. We demonstrate the ability of the chip to discriminate between tumorigenic and metastatic breast cancer cells (MCF7 and MDA-MB231) and between human melanoma cells with different metastatic potential (A375P and A375MC2). Moreover, we show that this chip allows highlighting the effect of drugs interfering with microtubule organization (paclitaxel, combretastatin A-4 and nocodazole) on cancer cells, which leads to changes in the pressure-gradient required to push cells through the constriction. Our single-cell microfluidic device for mechanical evaluation is compact and easy to use, allowing for an extensive use in different laboratory environments.

  16. The effect of gradually constricted channel on the I-V characteristics of graphene sheets

    Science.gov (United States)

    Zanella, Fernando; Nobrega, K. Z.; Dartora, C. A.

    2016-10-01

    Ideal graphene is a gapless semiconductor consisting of a single layer of carbon atoms regularly arranged in a honeycomb lattice having infinite spatial extent in the (x,y)-plane, in which electrons behave as Dirac massless fermions. Even neglecting interactions with the anchoring substrate, a graphene sheet in real world has finite extent, leading to distinctive features in the conductivity of a given sample. In this letter we study the effect of a gradual channel constriction in graphene nanoribbons on their I-V characteristics, using non-equilibrium Green's function formalism. The constriction width and the border cutting angle are the main parameters to be varied. We found that transmission through the channel is considerably affected by these parameters, presenting sharp peaks at specific energies, which can be attributed to a resonance due to the tuning of energy eigenvalues.

  17. Non-Hodgkin’s Lymphoma Presenting as Constrictive Pericarditis: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Maryam Nabati

    2016-10-01

    Full Text Available Constrictive pericarditis (CP is an uncommon post inflammatory disorder. It is described as pericardial thickening, myocardial constriction, and impaired diastolic filling. The most common etiologies are idiopathy, mediastinal radiotherapy, and prior cardiac surgery. Less common etiologies include viral infections, collagen vascular disorders, renal failure, sarcoidosis, tuberculosis, and blunt chest trauma. CP can less commonly be caused by malignancy. We report a very rare case of non-Hodgkin’s lymphoma (NHL presenting twice with attacks of decompensated heart failure. Echocardiography revealed that CP was responsible for the patient's symptoms as the first manifestation of NHL. Chest computed tomography scan and biopsy findings were compatible with the diagnosis of NHL. The patient received R-CHOP (cyclophosphamide, hydroxydaunorubicin, Oncovin®, and prednisone or prednisolone, combined with the monoclonal antibody rituximab chemotherapy. Three months later, there was significant improvement in the patient’s symptoms and considerable decrease in pericardial thickness.

  18. Receptor mechanisms of PAF mediated lymphatic constriction in the canine forelimb

    Directory of Open Access Journals (Sweden)

    D. E. Dobbins

    1992-01-01

    Full Text Available Platelet activating factor (PAF is a potent inflammatory lipid. In this study we assessed the ability of PAF to impact lymphatic vessel function by altering prenodal lymphatic resistance. Intralymphatic PAF (7.47 × 10−6, 7.47 × 10−5 and 7.47 × 10−4 M increased lymphatic perfusion pressure at the two highest infusion rates. PAF mediated lymphatic constriction was not altered by the intra-arterial infusion of phentolamine but was blocked by the intra-arterial infusion of the PAF receptor antagonist WEB 2170. These data indicate that in addition to PAF's effects on microvascular permeability, this agent may also impact the ability of the lymphatics to transport fluid through alterations in lymphatic smooth muscle tone. PAF mediated lymphatic constriction is not mediated by α-receptors but rather through PAF receptor mediated mechanism.

  19. Influence of constricted air distribution on NOx emissions in pulverized coal combustion boiler

    Institute of Scientific and Technical Information of China (English)

    WEI Feng(魏风); ZHANG Jun-ying(张军营); TANG Bi-guang(唐必光); ZHENG Chu-guang(郑楚光)

    2003-01-01

    This paper reports a field testing of full scale PCC (Pulverized Coal Combustion) boiler study into the influence of constricted air distribution on NOx emissions at unit 3 (125 MW power units, 420 t/h boiler) of Guixi power station, Jiangxi and puts forward the methods to decrease NOx emissions and the principle of boiler operation and regulation through analyzing NOx emissions state under real running condition. Based on boiler constricted air distribution, the experiment mainly tested the influence of primary air, excessive air, boiler load and milling sets (tertiary air) on NOx emissions and found its influence characteristics. A degraded bituminous coal is simply adopted to avoid the test results from other factors.

  20. Two-dimensional speckle tracking cardiac mechanics and constrictive pericarditis: systematic review.

    Science.gov (United States)

    Madeira, Marta; Teixeira, Rogério; Costa, Marco; Gonçalves, Lino; Klein, Allan L

    2016-10-01

    Transthoracic echocardiography has a pivotal role in the diagnosis of constrictive pericarditis (CP). In addition to the classic M-mode, two-dimensional and Doppler indices, newer methodologies designed to evaluate myocardial mechanics, such as two-dimensional speckle tracking echocardiography (2DSTE), provide additional diagnostic and clinical information in the context of CP. Research has demonstrated that cardiac mechanics can improve echocardiographic diagnostic accuracy of CP and aid in differentiating between constrictive and restrictive ventricular physiology. 2DSTE can also be used to assess the success of pericardiectomy and its impact on atrial and ventricular mechanics. In the course of this review, we describe cardiac mechanics in patients with CP and summarize the influence of pericardiectomy on atrial and ventricular mechanics assessed using 2DSTE.

  1. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

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

  2. Congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Wen-Hao Lee

    2012-06-01

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

  3. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

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

  4. Congenital familial hypertonia.

    Science.gov (United States)

    DeLuca, Carl F; Cashore, William J

    2002-09-01

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

  5. Systemic congenital lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Suppo de Souza

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

  6. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

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

  7. Congenital acute megakaryocytic leukemia

    Directory of Open Access Journals (Sweden)

    N B Mathur

    2011-01-01

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

  8. Congenital granular cell epulis.

    Science.gov (United States)

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

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

  9. Diaphragm arterioles are less responsive to alpha1- adrenergic constriction than gastrocnemius arterioles.

    Science.gov (United States)

    Aaker, Aaron; Laughlin, M H

    2002-05-01

    The sympathetic nervous system has greater influence on vascular resistance in low-oxidative, fast-twitch skeletal muscle than in high-oxidative skeletal muscle (17). The purpose of this study was to test the hypothesis that arterioles isolated from low-oxidative, fast-twitch skeletal muscle [the white portion of gastrocnemius (WG)] possess greater responsiveness to adrenergic constriction than arterioles isolated from high-oxidative skeletal muscle [red portion of the gastrocnemius muscle (RG) and diaphragm (Dia)]. Second-order arterioles (2As) were isolated from WG, RG, and Dia of rats and reactivity examined in vitro. Results reveal that Dia 2As constrict less to norepinephrine (NE) (10(-9) to 10 (-4) M) than 2As from RG and WG, which exhibited similar NE-induced constrictions. This difference was not endothelium dependent, because responses of denuded 2As were similar to those of intact arterioles. The blunted NE-induced constrictor response of Dia 2As appears to be the result of differences in alpha1-receptor effects because 1) arterioles from Dia also responded less to selective alpha1-receptor stimulation with phenylephrine than RG and WG arterioles; 2) arterioles from Dia, RG, and WG dilated similarly to isoproterenol (10(-9) to 10(-4) M) and did not respond to selective alpha2-receptor stimulation with UK-14304; and 3) endothelin-1 produced similar constriction in 2As from Dia, RG, and WG. We conclude that differences in oxidative capacity and/or fiber type composition of muscle tissue do not explain different NE responsiveness of Dia 2As compared with 2As from gastrocnemius muscle. Differences in alpha1-adrenergic constrictor responsiveness among arterioles in skeletal muscle may contribute to nonuniform muscle blood flow responses observed during exercise and serve to maintain blood flow to Dia during exercise-induced increases in sympathetic nerve activity.

  10. Mechanism of anti-inflammatory action of glucocorticoids: re-evaluation of vascular constriction hypothesis.

    OpenAIRE

    1981-01-01

    1 The question whether constriction of local vessels is essential for the anti-inflammatory action of glucocorticoids in carrageenin-induced granulomatous inflammation was studied. 2 The vasodilator prostaglandin E1 injection into the granuloma pouch fluid increased the exudation of plasma protein into the granuloma tissue. 3 Noradrenaline significantly reduced plasma exudation, possibly through alpha-adrenoceptor stimulation. 4 Cortisol and dexamethasone in doses sufficient to inhibit vascul...

  11. Mechanical roles of apical constriction, cell elongation, and cell migration during neural tube formation in Xenopus.

    Science.gov (United States)

    Inoue, Yasuhiro; Suzuki, Makoto; Watanabe, Tadashi; Yasue, Naoko; Tateo, Itsuki; Adachi, Taiji; Ueno, Naoto

    2016-12-01

    Neural tube closure is an important and necessary process during the development of the central nervous system. The formation of the neural tube structure from a flat sheet of neural epithelium requires several cell morphogenetic events and tissue dynamics to account for the mechanics of tissue deformation. Cell elongation changes cuboidal cells into columnar cells, and apical constriction then causes them to adopt apically narrow, wedge-like shapes. In addition, the neural plate in Xenopus is stratified, and the non-neural cells in the deep layer (deep cells) pull the overlying superficial cells, eventually bringing the two layers of cells to the midline. Thus, neural tube closure appears to be a complex event in which these three physical events are considered to play key mechanical roles. To test whether these three physical events are mechanically sufficient to drive neural tube formation, we employed a three-dimensional vertex model and used it to simulate the process of neural tube closure. The results suggest that apical constriction cued the bending of the neural plate by pursing the circumference of the apical surface of the neural cells. Neural cell elongation in concert with apical constriction further narrowed the apical surface of the cells and drove the rapid folding of the neural plate, but was insufficient for complete neural tube closure. Migration of the deep cells provided the additional tissue deformation necessary for closure. To validate the model, apical constriction and cell elongation were inhibited in Xenopus laevis embryos. The resulting cell and tissue shapes resembled the corresponding simulation results.

  12. Intrauterine ductus arteriosus constriction: analysis of a historic cohort of 20 cases

    Directory of Open Access Journals (Sweden)

    Luchese Stelamaris

    2003-01-01

    Full Text Available OBJECTIVE: To describe the relative incidence, presentation, and evolvement of fetuses with early ductus constriction. METHODS: Twenty fetal echocardiograms indicating ductus constriction were reviewed in a population of 7000 pregnants. RESULTS: The cases were divided into group A (related to maternal use of cyclooxygenase inhibitors [n=7] and group B (idiopathics [n=13]. Mean gestational age was 32.5±3.1 (27-38 weeks and maternal age was 28.2±8.5 (17-42 years. Mean systolic velocity in the ductus was 2.22±0.34 (1.66-2.81 m/s, diastolic velocity 0.79±0.28 (0.45-1.5 m/s, and pulsatility index 1.33±0.36 (0.52-1.83. Two cases of ductal occlusion were noted. In 65% of the cases, an increase occurred in the right cavities; in 90% of the cases, tricuspid or pulmonary regurgitation, or both, occurred, with functional pulmonary atresia in 1 case. Diastolic velocity was greater in group A (1.13±0.33 than in group B (0.68±0.15 (P=0.008. The other data were similar in the 2 groups. The evolvement was not favorable in 4 patients from group B, including 1 death and 2 cases of persistent pulmonary hypertension. CONCLUSION: The high incidence of idiopathic constriction of the ductus arteriosus suggests that its diagnosis is underestimated and that many cases of persistence of fetal circulation in newborns may be related to constriction of the ductus arteriosus not diagnosed during intrauterine life. Group B had a lower severity but a risk of an unfavorable evolvement, suggesting a distinct alteration.

  13. Endothelial Nitric Oxide Mediates Caffeine Antagonism of Alcohol-Induced Cerebral Artery Constriction.

    Science.gov (United States)

    Chang, Jennifer; Fedinec, Alexander L; Kuntamallappanavar, Guruprasad; Leffler, Charles W; Bukiya, Anna N; Dopico, Alex M

    2016-01-01

    Despite preventive education, the combined consumption of alcohol and caffeine (particularly from "energy drinks") continues to rise. Physiologic perturbations by separate intake of ethanol and caffeine have been widely documented. However, the biologic actions of the alcohol-caffeine combination and their underlying subcellular mechanisms have been scarcely studied. Using intravital microscopy on a closed-cranial window and isolated, pressurized vessels, we investigated the in vivo and in vitro action of ethanol-caffeine mixtures on cerebral arteries from rats and mice, widely recognized models to address cerebrovascular pathophysiology and pharmacology. Caffeine at concentrations found in human circulation after ingestion of one to two cups of coffee (10 µM) antagonized the endothelium-independent constriction of cerebral arteries evoked by ethanol concentrations found in blood during moderate-heavy alcohol intoxication (40-70 mM). Caffeine antagonism against alcohol was similar whether evaluated in vivo or in vitro, suggesting independence of systemic factors and drug metabolism, but required a functional endothelium. Moreover, caffeine protection against alcohol increased nitric oxide (NO•) levels over those found in the presence of ethanol alone, disappeared upon blocking NO• synthase, and could not be detected in pressurized cerebral arteries from endothelial nitric-oxide synthase knockout (eNOS(-/-)) mice. Finally, incubation of de-endothelialized cerebral arteries with the NO• donor sodium nitroprusside (10 µM) fully restored the protective effect of caffeine. This study demonstrates for the first time that caffeine antagonizes ethanol-induced cerebral artery constriction and identifies endothelial NO• as the critical caffeine effector on smooth muscle targets. Conceivably, situations that perturb endothelial function and/or NO• availability will critically alter caffeine antagonism of alcohol-induced cerebrovascular constriction without

  14. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

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

  15. Intestinal flora changes in a mouse model of transverse aortic constriction

    Directory of Open Access Journals (Sweden)

    Xian-jie ZHOU

    2016-10-01

    Full Text Available Objective  To investigate intestinal microbiota changes of model mice with transverse aortic constriction (TAC to find a new target point for preventing and treating cardiovascular disease. Methods  Twelve C57BL/6 mice were randomly divided into TAC model group (group TN and control group (group N of 6 mice each. The group TN received minimally invasive surgery for ligating the aorta to make its constriction to the appropriate degree, while the group N received same operation but no constriction. Faecal samples were collected 22 days after the treatment. Intestinal flora were determined by 16S rDNA pyrosequencing and bioinformatics clustering analysis were performed with software of Quantitative Insights into Microbial Ecology. Results  A higher abundance of Parabacteroides and a lower abundances of Lactobacillaceae, Lactobacillus and Cocleatum were present in TAC mice compared with the controls. Conclusion  Intestinal flora changes would take place in the TAC mice. Intestinal flora may be a potential target for prevention and treatment of cardiovascular diseases, but further validation should be performed to verify the relationship between those intestinal flora changes and disease progression in animal models. DOI: 10.11855/j.issn.0577-7402.2016.10.04

  16. Chirality dependent pinning and depinning of magnetic vortex domain walls at nano-constrictions

    Science.gov (United States)

    Mohanan P, Vineeth; Kumar, P. S. Anil

    2017-01-01

    The implementation of magnetic domain wall (DW) based memory and logic devices critically depend on the control over DW assisted magnetization reversal processes. Here we investigate the magnetization reversal by DW injection, pinning and depinning at a geometrical constriction in permalloy nanowire (NW) driven by external in-plane magnetic field, using local electrical probes. The observations of two distinct depinning field values are identified with the help of micromagnetic simulations, as being due to vortex DWs of different chiralities. Statistical analysis gave an estimate of chirality dependent pinning probability of DWs at this constriction. The stochastic nature of the DW based reversal driven by magnetic field is revealed here. The asymmetry in the depinning field of the DWs to move to either side of constriction indicates the asymmetric nature of the barrier potential seen by the DWs. The results demonstrate the difficulties in achieving deterministic switching behavior of DW assisted reversal, and provide a platform to understand the main bottlenecks in the technological implementation of DWs.

  17. Biventricular Failure due to Stress Cardiomyopathy after Pericardiectomy for Constrictive Pericarditis

    Directory of Open Access Journals (Sweden)

    Elliott M. Groves

    2013-01-01

    Full Text Available Importance. Constrictive pericarditis is a rare clinical entity that frequently necessitates surgical intervention. Here we present a case of biventricular failure due to stress cardiomyopathy after pericardiectomy. This is an extremely rare complication that is not well described and does not have a definitive mechanism. Observations. A 40-year-old Ecuadorian woman who was found to have constrictive pericarditis due to Mycobacterium tuberculosis infection was referred to our institution. The presence of constrictive pericarditis was confirmed by echocardiography, computed tomography, magnetic resonance imaging, and cardiac catheterization. Following pericardiectomy, the patient developed biventricular failure consistent with stress cardiomyopathy (Takotsubo cardiomyopathy, based on the echocardiographic assessment of the ventricles, which demonstrated an akinetic apex and hyperactive base in both ventricles, the absence of significant epicardial coronary atherosclerosis, and prompt normalization of the cardiac function after intensive medical therapy. Conclusions and Relevance. Biventricular failure in the form of stress cardiomyopathy after pericardiectomy in the manner presented here has not been previously described in the literature. While postulations as to the cause of single ventricle dysfunction have been described, the exact mechanism is unclear and current theories do not explain the clinical features in this case of stress cardiomyopathy after pericardiectomy.

  18. Comparison of turbulent models in the case of a constricted tube

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    Elcner Jakub

    2017-01-01

    Full Text Available The validation of a proper solution is an indispensable phase of every numerical simulation. Nowadays, many turbulent models are available, whose application leads to slightly different solution of flow behaviour depending on the boundary conditions of a specific problem. It is essential to select the proper turbulence model appropriate for the given situation. The aim of this study is to select the most suitable two-equation eddy-viscosity model, which can be further used during calculations of airflow in human airways. For this purpose, geometry of a constricted tube with well-documented experimental measurements was chosen. The flow in the constricted tube was calculated using Spallart-Almaras, k-omega, k-epsilon and SST model approach using commercial software. The outcome of the comparison is a choice of the suitable model which is capable of simulating the transition of the boundary layer from laminar to turbulent flow. This transition typically arises in the upper part of the respiratory system, where the airways are constricted, specifically in the area, where the oral cavity continues through the glottis to trachea. The simulations were performed in a commercial solver Star-CCM+.

  19. FtsZ does not initiate membrane constriction at the onset of division.

    Science.gov (United States)

    Daley, Daniel O; Skoglund, Ulf; Söderström, Bill

    2016-09-09

    The source of constriction required for division of a bacterial cell remains enigmatic. FtsZ is widely believed to be a key player, because in vitro experiments indicate that it can deform liposomes when membrane tethered. However in vivo evidence for such a role has remained elusive as it has been challenging to distinguish the contribution of FtsZ from that of peptidoglycan-ingrowth. To differentiate between these two possibilities we studied the early stages of division in Escherichia coli, when FtsZ is present at the division site but peptidoglycan synthesizing enzymes such as FtsI and FtsN are not. Our approach was to use correlative cryo-fluorescence and cryo-electron microscopy (cryo-CLEM) to monitor the localization of fluorescently labeled FtsZ, FtsI or FtsN correlated with the septal ultra-structural geometry in the same cell. We noted that the presence of FtsZ at the division septum is not sufficient to deform membranes. This observation suggests that, although FtsZ can provide a constrictive force, the force is not substantial at the onset of division. Conversely, the presence of FtsN always correlated with membrane invagination, indicating that allosteric activation of peptidoglycan ingrowth is the trigger for constriction of the cell envelope during cell division in E. coli.

  20. Integrins Regulate Apical Constriction via Microtubule Stabilization in the Drosophila Eye Disc Epithelium

    Directory of Open Access Journals (Sweden)

    Vilaiwan M. Fernandes

    2014-12-01

    Full Text Available During morphogenesis, extracellular signals trigger actomyosin contractility in subpopulations of cells to coordinate changes in cell shape. To illuminate the link between signaling-mediated tissue patterning and cytoskeletal remodeling, we study the progression of the morphogenetic furrow (MF, the wave of apical constriction that traverses the Drosophila eye imaginal disc preceding photoreceptor neurogenesis. Apical constriction depends on actomyosin contractility downstream of the Hedgehog (Hh and bone morphogenetic protein (BMP pathways. We identify a role for integrin adhesion receptors in MF progression. We show that Hh and BMP regulate integrin expression, the loss of which disrupts apical constriction and slows furrow progression; conversely, elevated integrins accelerate furrow progression. We present evidence that integrins regulate MF progression by promoting microtubule stabilization, since reducing microtubule stability rescues integrin-mediated furrow acceleration. Thus, integrins act as a genetic link between tissue-level signaling events and morphological change at the cellular level, leading to morphogenesis and neurogenesis in the eye.

  1. Distinct constrictive processes, separated in time and space,divide Caulobacter inner and outer membranes

    Energy Technology Data Exchange (ETDEWEB)

    Judd, Ellen M.; Comolli, Luis R.; Chen, Joseph C.; Downing,Kenneth H.; Moerner, W.E.; McAdams, Harley H.

    2005-05-01

    Cryo-electron microscope tomography (cryoEM) and a fluorescence loss in photobleaching (FLIP) assay were used to characterize progression of the terminal stages of Caulobacter crescentus cell division. Tomographic cryoEM images of the cell division site show separate constrictive processes closing first the inner, and then the outer, membrane in a manner distinctly different from septum-forming bacteria. The smallest observed pre-fission constrictions were 60 nm for both the inner and outer membrane. FLIP experiments had previously shown cytoplasmic compartmentalization, when cytoplasmic proteins can no longer diffuse between the two nascent progeny cell compartments, occurring 18 min before daughter cell separation in a 135 min cell cycle. Here, we used FLIP experiments with membrane-bound and periplasmic fluorescent proteins to show that (1) periplasmic compartmentalization occurs after cytoplasmic compartmentalization, consistent with the cryoEM observations, and (2) inner membrane and periplasmic proteins can diffuse past the FtsZ constriction site, indicating that the cell division machinery does not block membrane diffusion.

  2. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

  3. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-09-01

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

  4. [Genetics of congenital deafness].

    Science.gov (United States)

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

    2012-10-20

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

  5. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

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

  6. Losartan protects mesenteric arteries from ROS-associated decrease in myogenic constriction following 5/6 nephrectomy

    NARCIS (Netherlands)

    Vavrinec, Peter; van Dokkum, Richard P. E.; Goris, Maaike; Buikema, Hendrik; Henning, Robert H.

    2011-01-01

    Background: Chronic renal failure (CRF) is associated with hypertension, proteinuria, loss of myogenic constriction (MC) of mesenteric arteries and increased production of reactive oxygen species (ROS) under experimental conditions. Previous results showed that ACE (angiotensin-converting enzyme act

  7. Streeter Dysplasia, from Pelvic to Digits: A Case Report

    OpenAIRE

    Komang Agung Irianto; Luh Gede Djatu Anggita Dewi; Gana Adyaksa

    2016-01-01

    Background: Streeter dysplasia is a term to describe fetal congenital syndrome which mainly characterized by constriction band on appendages, prenatal amputations of extremities, and acrosyndactyly. This syndrome has wide range of clinical manifestation between patients, as reflected by many other terms to describe this syndrome. Case: The author reported five cases of Streeter dysplasia with constriction band on different locations of the body, with a patient having a constriction band aroun...

  8. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

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

  9. Efficacy of pulmonary artery banding in patients with uneventricular defects

    Directory of Open Access Journals (Sweden)

    Ю. С. Синельников

    2015-10-01

    Full Text Available Long-term results where evaluated for different methods of pulmonary artery banding (PAB in 25 patients with univentricular congenital heart defects with used three methods. Hospital mortality was 8%. Second stage palliation was performed in 61% of patients. More tight PA banding in patients with univentriclar gave opportunity to perform 2nd stage of operation in 100% of patients, decrease complications and mortality rate, modify pulmonary circulation effectively.

  10. Congenital Goitre in Goats

    Directory of Open Access Journals (Sweden)

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

    2010-01-01

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

  11. Congenital pyriform aperture stenosis

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-01-15

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

  12. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

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

  13. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

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

  14. Pericarditis - constrictive

    Science.gov (United States)

    ... other conditions such as restrictive cardiomyopathy and cardiac tamponade . Your health care provider will need to rule ... Complications may include: Cardiac tamponade Damage to the coronary arteries Heart failure Pulmonary edema Scarring of the heart muscle

  15. Congenital heart defects and medical imaging.

    Science.gov (United States)

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

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

  16. Types of Congenital Heart Defects

    Science.gov (United States)

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

  17. CONGENITAL QUADRICUSPID AORTIC-VALVE

    NARCIS (Netherlands)

    BROUWER, MHJ; DEGRAAF, JJ; EBELS, T

    1993-01-01

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

  18. [Congenital Adrenal Hyperplasia in Adults].

    Science.gov (United States)

    Vrbíková, Jana

    2016-01-01

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

  19. [Congenital galactosaemia: an unusual presentation].

    Science.gov (United States)

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

    2005-02-01

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

  20. Piezoelectric control of the static behaviour of flextensional actuators with constricted hinges

    Science.gov (United States)

    Przybylski, Jacek

    2014-06-01

    The objective of this paper is to present the mathematical modelling and computational testing of the static operational performance and effectiveness of flextensional actuators comprised of two rectilinear or initially deflected beams placed equidistantly from a centrally located piezoceramic stack in the form of a rod. The beams are mounted by stiff links with an offset to a piezoelectric transformer. A monolithic hinge lever mechanism is applied by cutting constricted hinges at the links to generate and magnify the in-plane displacement created by the application of a voltage to the piezorod. Structures of such a type have been commonly used as passive or active actuators since the manufacturing of the mechanism’s prototypes in the form of Moonie or cymbal actuators. An analytical model of the actuator is developed on the basis of stationary values of the total potential energy principle with the use of the von Kármán non-linear strains theory. During the numerical computations, the deflection and internal axial force generated by both the externally distributed load and the the application of an electric field are determined by changing the actuator properties such as the distance between the beams and the rod, the amplitude of the beam’s initial displacement as well as the stiffness of the constricted hinges. Additionally, the application of structure prestressing is considered to avoid an undesired stretching of the piezo stack. It has been shown that for the flextensional actuator with a very high flexibility of constricted hinges, the generated transverse displacement is limited by the maximum electric field as the characteristic property for each piezoceramic material. A vast number of numerical results exhibit the mechanical responses of the transducer of different geometrical and physical properties to piezoelectric stimulation; this has potential applications in the design process of such actuators.

  1. ERK signaling mediates enhanced angiotensin Ⅱ-induced rat aortic constriction following chronic intermittent hypoxia

    Institute of Scientific and Technical Information of China (English)

    GUO Xue-ling; DENG Yan; SHANG Jin; LIU Kui; XU Yong-jian; LIU Hui-guo

    2013-01-01

    Background Obstructive sleep apnea (OSA) has been recognized as an independent risk factor for systemic hypertension.The study investigated the functional consequences of chronic intermittent hypoxia (CIH) on aortic constriction induced by angiotensin Ⅱ (Ang Ⅱ) and the possible signaling involving ERK1/2 and contractile proteins such as myosin light chain kinase (MLCK),myosin phosphatase targeting subunit (MYPT1) and myosin light chain (MLC).Methods Male Wistar rats were randomly divided into CIH group and normoxia group and exposed to either CIH procedure or air-air cycles.Phosphorylation of ERK1/2,MYPT1 and MLC was assessed by Western blotting following constrictor studies in the presence or absence of PD98059 (10 μmol/L).Results CIH-exposure resulted in more body weight gain and elevated blood pressure,which could be attenuated by pretreatment with PD98059.Endothelium-removed aortic rings from CIH rats exhibited higher constrictor sensitivity to Ang Ⅱ (Emax:(138.56±5.78)% versus (98.45±5.31)% of KCI; pD2:7.98±0.14 versus 8.14±0.05,respectively).CIH procedure exerted complex effects on ERK expressions (total ERK1/2 decreased whereas the ratio of phosphorylated to total ERK1/2increased).CIH aortas had higher MLCK mRNA and basal phosphorylation of MYPT1 and MLC.In parallel to greater increases in phosphorylation of ERK1/2,MYPT1 and MLC,Ang Ⅱ-induced aortic constriction was significantly enhanced in CIH rats,which was largely reversed by PD98059.However vascular constriction of normoxia rats remained unchanged despite similar but smaller changing tendency of proteins phosphorylation.Conclusion These data suggest that CIH exposure results in aortic hyperresponsiveness to Ang Ⅱ,presumably owing to more activated ERK1/2 signaling pathway.

  2. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

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

  3. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

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

    2011-01-01

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

  4. Buoyancy-induced squeezing of a deformable drop through an axisymmetric ring constriction

    Science.gov (United States)

    Ratcliffe, Thomas; Zinchenko, Alexander Z.; Davis, Robert H.

    2010-08-01

    Axisymmetric boundary-integral (BI) simulations were made for buoyancy-induced squeezing of a deformable drop through a ring constriction. The algorithm uses the Hebeker representation for the solid-particle contribution. A high-order, near-singularity subtraction technique is essential for near-critical squeezing. The drop velocity and minimum drop-solid spacing were determined for different ring and hole sizes, viscosity ratios, and Bond numbers, where the latter is a dimensionless ratio of gravitational to interfacial forces. The drop velocity decelerates typically 100-fold or more, and the drop-solid spacing reduces to typically 0.1%-1% of the nondeformed drop radius as the drop passes through the constriction. The critical Bond number (below which trapping occurs) was determined for different conditions. For supercritical conditions, the nondimensional time required for the drop to pass through the ring increases for a fixed drop-to-hole size with increasing viscosity ratio and decreasing Bond number, but it has a nonmonotonic dependence on the ratio of the radii of the drop and ring cross section. Numerical results indicate that the square of the drop squeezing time is inversely proportional to the Bond number minus the critical Bond number for near-critical squeezing. The critical Bond number, determined from dynamic BI calculations, compares favorably to that obtained precisely from a static algorithm. The static algorithm uses the Young-Laplace equation to calculate the pendant and sessile portions of the drop interface coupled through the conditions of global pressure continuity and total drop volume conservation. Over a limited parameter space, the critical Bond number increases almost linearly with the drop-to-hole ratio and is a weak function of the ratio of the ring cross-sectional radius to the hole radius. Another dynamic phenomenon, in addition to drop squeezing, is a drop "dripping" around the outer edge of the ring constriction, and a critical

  5. Domain wall pinning and potential landscapes created by constrictions and protrusions in ferromagnetic nanowires

    Science.gov (United States)

    Petit, Dorothée; Jausovec, Ana-Vanessa; Read, Dan; Cowburn, Russell P.

    2008-06-01

    The potential experienced by transverse domain walls (TDWs) in the vicinity of asymmetric constrictions or protrusions in thin Permalloy nanowires is probed using spatially resolved magneto-optical Kerr effect measurements. Both types of traps are found to act as pinning centers for DWs. The strength of pinning is found to depend on the trap type as well as on the chirality of the incoming DW; both types of traps are seen to act either as potential wells or potential barriers, also depending on the chirality of the DW. Micromagnetic simulations have been performed that are in good qualitative agreement with the experimental results.

  6. A critical velocity of squeezing a droplet through a circular constriction: implications on ischemic stroke

    Science.gov (United States)

    Zhang, Zhifeng; Drapaca, Corina

    2016-11-01

    Ischemic stroke accounts for about 87 percent of all stroke cases. In these cases, models of squeezing a droplet through a smaller constriction channel can help better understand the pathology and capillary restoring after a Stroke. In the present research, we analytical expressed the minimum impulse of squeezing a droplet through a circular channel as well as its critical velocity. By comparison with a previously defined critical velocity, we find the difference between these two. Applications of this research in the understanding of ischemic stroke are also discussed. Zhifeng Zhang thanks the support of Robert A. Sebrosky Graduate Fellowship in Engineering Science and Mechanics, the Pennsylvania State University.

  7. Observation of mode transition and low-frequency oscillations in magnetically constricted anode

    Science.gov (United States)

    Chauhan, S.; Ranjan, M.; Bandyopadhyay, M.; Mukherjee, S.

    2016-12-01

    We report on the discharge behaviour and the mode transition observed in a magnetically constricted anode device. With an increase in pressure, the central droplet shaped glow shrunk and abruptly switched to peripheral glow mode for pressure above 5 ×10-2 mbar . This transition is observed when the width of the droplet shaped glow at the anode approaches the diameter of the central magnet. The mode transition is observed as a sudden jump in the discharge current, which obeys a different power law than the previous discharge mode. Further, this new mode is observed to accompany the global oscillations in the range of few kHz.

  8. Coherent Electronic Transport through Graphene Constrictions: Subwavelength Regime and Optical Analogy

    Science.gov (United States)

    Darancet, Pierre; Olevano, Valerio; Mayou, Didier

    2009-04-01

    Nanoelectronic devices smaller than the electron wavelength can be achieved in graphene with current lithography techniques. Here we show that the electronic quantum transport of graphene subwavelength nanodevices presents deep analogies with subwavelength optics. We introduce the concept of electronic diffraction barrier to represent the effect of constrictions and the rich transport phenomena of a variety of nanodevices. Results are presented for Bethe and Kirchhoff diffraction in graphene slits and Fabry-Perot interference oscillations in nanoribbons. The same concept applies to graphene quantum dots and gives new insight into recent experiments in these systems.

  9. Constriction model of actomyosin ring for cytokinesis by fission yeast using a two-state sliding filament mechanism

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Yong-Woon [Department of Chemistry, Texas A and M University, College Station, Texas 77843-3255 (United States); Mascagni, Michael, E-mail: Mascagni@fsu.edu [Departments of Computer Science, Mathematics and Scientific Computing, and Graduate Program in Molecular Biophysics, Florida State University, Tallahassee, Florida 32306-4530 (United States)

    2014-09-28

    We developed a model describing the structure and contractile mechanism of the actomyosin ring in fission yeast, Schizosaccharomyces pombe. The proposed ring includes actin, myosin, and α-actinin, and is organized into a structure similar to that of muscle sarcomeres. This structure justifies the use of the sliding-filament mechanism developed by Huxley and Hill, but it is probably less organized relative to that of muscle sarcomeres. Ring contraction tension was generated via the same fundamental mechanism used to generate muscle tension, but some physicochemical parameters were adjusted to be consistent with the proposed ring structure. Simulations allowed an estimate of ring constriction tension that reproduced the observed ring constriction velocity using a physiologically possible, self-consistent set of parameters. Proposed molecular-level properties responsible for the thousand-fold slower constriction velocity of the ring relative to that of muscle sarcomeres include fewer myosin molecules involved, a less organized contractile configuration, a low α-actinin concentration, and a high resistance membrane tension. Ring constriction velocity is demonstrated as an exponential function of time despite a near linear appearance. We proposed a hypothesis to explain why excess myosin heads inhibit constriction velocity rather than enhance it. The model revealed how myosin concentration and elastic resistance tension are balanced during cytokinesis in S. pombe.

  10. Constriction model of actomyosin ring for cytokinesis by fission yeast using a two-state sliding filament mechanism

    Science.gov (United States)

    Jung, Yong-Woon; Mascagni, Michael

    2014-09-01

    We developed a model describing the structure and contractile mechanism of the actomyosin ring in fission yeast, Schizosaccharomyces pombe. The proposed ring includes actin, myosin, and α-actinin, and is organized into a structure similar to that of muscle sarcomeres. This structure justifies the use of the sliding-filament mechanism developed by Huxley and Hill, but it is probably less organized relative to that of muscle sarcomeres. Ring contraction tension was generated via the same fundamental mechanism used to generate muscle tension, but some physicochemical parameters were adjusted to be consistent with the proposed ring structure. Simulations allowed an estimate of ring constriction tension that reproduced the observed ring constriction velocity using a physiologically possible, self-consistent set of parameters. Proposed molecular-level properties responsible for the thousand-fold slower constriction velocity of the ring relative to that of muscle sarcomeres include fewer myosin molecules involved, a less organized contractile configuration, a low α-actinin concentration, and a high resistance membrane tension. Ring constriction velocity is demonstrated as an exponential function of time despite a near linear appearance. We proposed a hypothesis to explain why excess myosin heads inhibit constriction velocity rather than enhance it. The model revealed how myosin concentration and elastic resistance tension are balanced during cytokinesis in S. pombe.

  11. Differences in the effects of turns and constrictions on the resistive response in current-biased superconducting wire after single photon absorption

    OpenAIRE

    Zotova, A. N.; Vodolazov, D. Y.

    2013-01-01

    We study how turns and constrictions affect the resistive response of the superconducting wire after instant in time and local in space heating, which models the absorption of the single photon by the wire. We find that the presence of constriction favors detection of photons of various energies but the presence of turn increases only ability to detect relatively "low" energy photons. The main reason is that in case of constriction the current density is increased over whole length and width ...

  12. Congenital Diaphragmatic Hernia

    Science.gov (United States)

    2012-01-01

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

  13. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

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

  14. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

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

  15. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

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

  16. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

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

  17. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

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

  18. Congenital Progressive Mutilating Hemangioma

    Directory of Open Access Journals (Sweden)

    Anastasiya Chokoeva

    2017-06-01

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

  19. [Congenital cataract: general review].

    Science.gov (United States)

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

    2006-04-01

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

  20. [Congenital aortic stenosis].

    Science.gov (United States)

    Yamaguchi, M

    2001-08-01

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

  1. Protein phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation.

    Science.gov (United States)

    Yamamoto, Shinya; Bayat, Vafa; Bellen, Hugo J; Tan, Change

    2013-01-01

    Germline cyst formation is essential for the propagation of many organisms including humans and flies. The cytoplasm of germline cyst cells communicate with each other directly via large intercellular bridges called ring canals. Ring canals are often derived from arrested contractile rings during incomplete cytokinesis. However how ring canal formation, maintenance and growth are regulated remains unclear. To better understand this process, we carried out an unbiased genetic screen in Drosophila melanogaster germ cells and identified multiple alleles of flapwing (flw), a conserved serine/threonine-specific protein phosphatase. Flw had previously been reported to be unnecessary for early D. melanogaster oogenesis using a hypomorphic allele. We found that loss of Flw leads to over-constricted nascent ring canals and subsequently tiny mature ring canals, through which cytoplasmic transfer from nurse cells to the oocyte is impaired, resulting in small, non-functional eggs. Flw is expressed in germ cells undergoing incomplete cytokinesis, completely colocalized with the Drosophila myosin binding subunit of myosin phosphatase (DMYPT). This colocalization, together with genetic interaction studies, suggests that Flw functions together with DMYPT to negatively regulate myosin activity during ring canal formation. The identification of two subunits of the tripartite myosin phosphatase as the first two main players required for ring canal constriction indicates that tight regulation of myosin activity is essential for germline cyst formation and reproduction in D. melanogaster and probably other species as well.

  2. Protein phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation.

    Directory of Open Access Journals (Sweden)

    Shinya Yamamoto

    Full Text Available Germline cyst formation is essential for the propagation of many organisms including humans and flies. The cytoplasm of germline cyst cells communicate with each other directly via large intercellular bridges called ring canals. Ring canals are often derived from arrested contractile rings during incomplete cytokinesis. However how ring canal formation, maintenance and growth are regulated remains unclear. To better understand this process, we carried out an unbiased genetic screen in Drosophila melanogaster germ cells and identified multiple alleles of flapwing (flw, a conserved serine/threonine-specific protein phosphatase. Flw had previously been reported to be unnecessary for early D. melanogaster oogenesis using a hypomorphic allele. We found that loss of Flw leads to over-constricted nascent ring canals and subsequently tiny mature ring canals, through which cytoplasmic transfer from nurse cells to the oocyte is impaired, resulting in small, non-functional eggs. Flw is expressed in germ cells undergoing incomplete cytokinesis, completely colocalized with the Drosophila myosin binding subunit of myosin phosphatase (DMYPT. This colocalization, together with genetic interaction studies, suggests that Flw functions together with DMYPT to negatively regulate myosin activity during ring canal formation. The identification of two subunits of the tripartite myosin phosphatase as the first two main players required for ring canal constriction indicates that tight regulation of myosin activity is essential for germline cyst formation and reproduction in D. melanogaster and probably other species as well.

  3. Constriction of the mitochondrial inner compartment is a priming event for mitochondrial division

    Science.gov (United States)

    Cho, Bongki; Cho, Hyo Min; Jo, Youhwa; Kim, Hee Dae; Song, Myungjae; Moon, Cheil; Kim, Hyongbum; Kim, Kyungjin; Sesaki, Hiromi; Rhyu, Im Joo; Kim, Hyun; Sun, Woong

    2017-01-01

    Mitochondrial division is critical for the maintenance and regulation of mitochondrial function, quality and distribution. This process is controlled by cytosolic actin-based constriction machinery and dynamin-related protein 1 (Drp1) on mitochondrial outer membrane (OMM). Although mitochondrial physiology, including oxidative phosphorylation, is also important for efficient mitochondrial division, morphological alterations of the mitochondrial inner-membrane (IMM) have not been clearly elucidated. Here we report spontaneous and repetitive constriction of mitochondrial inner compartment (CoMIC) associated with subsequent division in neurons. Although CoMIC is potentiated by inhibition of Drp1 and occurs at the potential division spots contacting the endoplasmic reticulum, it appears on IMM independently of OMM. Intra-mitochondrial influx of Ca2+ induces and potentiates CoMIC, and leads to K+-mediated mitochondrial bulging and depolarization. Synergistically, optic atrophy 1 (Opa1) also regulates CoMIC via controlling Mic60-mediated OMM–IMM tethering. Therefore, we propose that CoMIC is a priming event for efficient mitochondrial division. PMID:28598422

  4. A Rare Case of Pneumopericardium in the Setting of Tuberculous Constrictive Pericarditis

    Directory of Open Access Journals (Sweden)

    Lauro L. Abrahan IV

    2017-01-01

    Full Text Available A 28-year-old Filipino male was admitted due to high-grade fevers and dyspnea on a background of chronic cough and weight loss. Due to clinical and echocardiographic signs of cardiac tamponade, emergency pericardiocentesis was performed on his first hospital day. Five days after, chest radiographs showed new pockets of radiolucency within the cardiac shadow, indicative of pneumopericardium. On repeat echo, air microbubbles admixed with loculated effusion were visualized in the anterior pericardial space. Constrictive physiology was also supported by a thickened pericardium, septal bounce, exaggerated respiratory variation in AV valve inflow, and IVC plethora. A chest CT scan confirmed the presence of an air-fluid level within the pericardial sac. The patient was started on a quadruple antituberculosis regimen and IV piperacillin-tazobactam to cover for superimposed acute bacterial pericarditis. Pericardiectomy was performed as definitive management, with stripped pericardium measuring 5–7 mm thick and caseous material extracted from the pericardial sac. Histopathology was consistent with tuberculosis. This report highlights pneumopericardium as a rare complication of pericardiocentesis. We focused on the utility of echocardiography for diagnosing and monitoring this condition on a background of tuberculous constrictive pericarditis, ultimately convincing us that pericardiectomy was necessary, instead of the usual conservative measures for pneumopericardium.

  5. Loss of naive T cells and repertoire constriction predict poor response to vaccination in old primates.

    Science.gov (United States)

    Cicin-Sain, Luka; Smyk-Pearson, Susan; Smyk-Paerson, Sue; Currier, Noreen; Byrd, Laura; Koudelka, Caroline; Robinson, Tammie; Swarbrick, Gwendolyn; Tackitt, Shane; Legasse, Alfred; Fischer, Miranda; Nikolich-Zugich, Dragana; Park, Byung; Hobbs, Theodore; Doane, Cynthia J; Mori, Motomi; Axthelm, Michael K; Axthelm, Michael T; Lewinsohn, Deborah A; Nikolich-Zugich, Janko

    2010-06-15

    Aging is usually accompanied by diminished immune protection upon infection or vaccination. Although aging results in well-characterized changes in the T cell compartment of long-lived, outbred, and pathogen-exposed organisms, their relevance for primary Ag responses remain unclear. Therefore, it remains unclear whether and to what extent the loss of naive T cells, their partial replacement by oligoclonal memory populations, and the consequent constriction of TCR repertoire limit the Ag responses in aging primates. We show in this study that aging rhesus monkeys (Macaca mulatta) exhibit poor CD8 T cell and B cell responses in the blood and poor CD8 responses in the lungs upon vaccination with the modified vaccinia strain Ankara. The function of APCs appeared to be maintained in aging monkeys, suggesting that the poor response was likely intrinsic to lymphocytes. We found that the loss of naive CD4 and CD8 T cells, and the appearance of persisting T cell clonal expansions predicted poor CD8 responses in individual monkeys. There was strong correlation between early CD8 responses in the transitory CD28+ CD62L- CD8+ T cell compartment and the peak Ab titers upon boost in individual animals, as well as a correlation of both parameters of immune response to the frequency of naive CD8+ T cells in old but not in adult monkeys. Therefore, our results argue that T cell repertoire constriction and naive cell loss have prognostic value for global immune function in aging primates.

  6. Chylous ascites and chylothorax due to constrictive pericarditis in a patient infected with HIV: a case report

    Directory of Open Access Journals (Sweden)

    Summachiwakij Sarawut

    2012-06-01

    Full Text Available Abstract Introduction Chylothorax and chylous ascites are uncommon and usually associated with trauma or neoplasms. To the best of our knowledge, constrictive pericarditis leading to chylothorax and chylous ascites in a person infected with HIV has never previously been described. Case presentation A 39-year-old Thai man was referred to our institute with progressive dyspnea, edema and abdominal distension. His medical history included HIV infection and pulmonary tuberculosis that was complicated by tuberculous pericarditis and cardiac tamponade. Upon further investigation, we found constrictive pericarditis, chylothorax and chylous ascites. A pericardiectomy was performed which resulted in gradual resolution of the ascites and chylous effusion. Conclusions Although constrictive pericarditis is an exceptionally rare cause of chylothorax and chylous ascites, it should nonetheless be considered in the differential diagnosis as a potentially reversible cause.

  7. HYBASE : HYperspectral BAnd SElection

    NARCIS (Netherlands)

    Schwering, P.B.W.; Bekman, H.H.P.T.; Seijen, H.H. van

    2009-01-01

    Band selection is essential in the design of multispectral sensor systems. This paper describes the TNO hyperspectral band selection tool HYBASE. It calculates the optimum band positions given the number of bands and the width of the spectral bands. HYBASE is used to assess the minimum number of spe

  8. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

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

  9. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

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

  10. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

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

  11. Five Facts about Congenital Heart Defects

    Science.gov (United States)

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

  12. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

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

  13. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

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

    2007-01-01

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

  14. Paternal transmission of congenital myotonic dystrophy.

    OpenAIRE

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

    1994-01-01

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

  15. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

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

    2005-01-01

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

  16. Signs and Symptoms of Congenital Heart Defects

    Science.gov (United States)

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

  17. Care and Treatment for Congenital Heart Defects

    Science.gov (United States)

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

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

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

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

  19. Schinzel-Giedion syndrome and congenital megacalyces.

    Science.gov (United States)

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

    1993-01-01

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

  20. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-12-15

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

  1. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

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

  2. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

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

  3. Berberine Ameliorates Allodynia Induced by Chronic Constriction Injury of the Sciatic Nerve in Rats.

    Science.gov (United States)

    Kim, Hyun Jee

    2015-08-01

    The objective of this study was to investigate whether berberine could ameliorate allodynia induced by chronic constriction injury (CCI) of the sciatic nerve in rats. After inducement of CCI, significant increases in the number of paw lifts from a cold plate test (cold allodynia) and decreased paw withdrawal threshold in the von Frey hair stimulation test (mechanical allodynia) were observed. However, these cold and mechanical allodynia were markedly alleviated by berberine administration in a dose-dependent manner. Sciatic nerve myeloperoxidase and malondialdehyde activities were also attenuated by berberine administration. Continuous injection for 7 days induced no development of tolerance. The antiallodynic effect of 20 mg/kg berberine was comparable to that of amitriptyline 10 mg/kg. This study demonstrated that berberine could mitigate allodynia induced by CCI, a neuropathic pain model, and it suggested that the anti-inflammatory and antioxidative properties of berberine contributed to the antiallodynic effect in the CCI model.

  4. Amnioserosa cell constriction but not epidermal actin cable tension autonomously drives dorsal closure.

    Science.gov (United States)

    Pasakarnis, Laurynas; Frei, Erich; Caussinus, Emmanuel; Affolter, Markus; Brunner, Damian

    2016-11-01

    Tissue morphogenesis requires coordination of multiple force-producing components. During dorsal closure in fly embryogenesis, an epidermis opening closes. A tensioned epidermal actin/MyosinII cable, which surrounds the opening, produces a force that is thought to combine with another MyosinII force mediating apical constriction of the amnioserosa cells that fill the opening. A model proposing that each force could autonomously drive dorsal closure was recently challenged by a model in which the two forces combine in a ratchet mechanism. Acute force elimination via selective MyosinII depletion in one or the other tissue shows that the amnioserosa tissue autonomously drives dorsal closure while the actin/MyosinII cable cannot. These findings exclude both previous models, although a contribution of the ratchet mechanism at dorsal closure onset remains likely. This shifts the current view of dorsal closure being a combinatorial force-component system to a single tissue-driven closure event.

  5. Antiallodynic Effect of Herbal Medicine Yokukansan on Peripheral Neuropathy in Rats with Chronic Constriction Injury

    Directory of Open Access Journals (Sweden)

    Yasuyuki Suzuki

    2012-01-01

    Full Text Available Yokukansan, one of the traditional Japanese herbal medicines, ameliorated neuropathic pain symptoms in patients. In this study, we investigated the effects of yokukansan on neuropathic pain in chronic constriction injury (CCI model. Oral administration of yokukansan significantly inhibited mechanical and cold allodynia in the von Frey hair or acetone test, respectively. In comparison, amitriptyline, a tricyclic antidepressant, demonstrated moderate, but not significant, antiallodynic effects in the mechanical and cold tests. Yokukansan significantly inhibited the cerebrospinal fluid dialysate level of glutamate that had increased by the stimulation of brush or acetone. Glutamate transporter inhibitors, DL-threo-beta-hydroxy aspartate and dihydrokainate, decreased the yokukansan-induced antiallodynic actions in CCI rats. Our results suggest that yokukansan was confirmed to have antiallodynic effects in CCI rats, which are related to a blockade of glutamatergic neurotransmission via activation of glutamate transporters in the spinal cord.

  6. Gonadectomy affects brain derived neurotrophic factor in rats after chronic constriction nerve injury

    Institute of Scientific and Technical Information of China (English)

    Xin ZHAO; Xin WANG; Shu-yun ZHENG; Jian-guo XU

    2004-01-01

    AIM: To assess the effect of gonadectomy on brain derived neurotrophic factor (BDNF) expression in neuropathic pain. METHODS: Using chronic constriction injury (CCI) model, we detected BDNF mRNA in dorsal root ganglion and protein content in spinal cord by reverse transcription polymerase chain reaction and enzyme-linked immunosorbent assay respectively. The time point we chose was post CCI operation d 0, 3, 7, 14, and 21.RESULTS: After CCI surgery, BDNF mRNA in ipsilateral DRGs was upregulated and reached its maximum on post operation d 7. BDNF protein level in ipsilateral spinal cord was also increased and reached its maximum on post operation d 14. The magnitude of this increase in gonadectomy (GDX) rats was significantly smaller than the GDX-sham rats at each time point. CONCLUSION: Gonadectomy reduced the BDNF increment after CCI surgery.Estrogen may affect nociceptive processing by its effect on BDNF.

  7. Flow of a Second Grade Fluid through Constricted Tube using Integral Method

    Directory of Open Access Journals (Sweden)

    A M Siddiqui

    2016-01-01

    Full Text Available The steady flow of a second grade fluid through constricted tube for mild stenosis is modeled and analyzed theoretically. The governing equations are simplified by implying an order-of-magnitude analysis. Based on Karman Pohlhausen procedure polynomial solution for velocity profile is presented. Expressions for pressure gradient, shear stress, separation and reattachment points are also calculated. The effects of nondimensional parameters emerging in the model on the velocity profile, shear stress, pressure gradient are discussed and depicted graphically. The effect of non-Newtonian parameter on velocity profile, wall shear stress and pressure gradient is also analyzed. It is found that the Reynolds number strongly effect the wall shear stress, separation and reattachment points.

  8. Electronic conductance model in constricted MoS{sub 2} with nanopores

    Energy Technology Data Exchange (ETDEWEB)

    Sarathy, Aditya [Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana, Illinois 61801 (United States); Department of Electrical and Computer Engineering, University of Illinois, Urbana, Illinois 61801 (United States); Leburton, Jean-Pierre, E-mail: jleburto@illinois.edu [Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana, Illinois 61801 (United States); Department of Electrical and Computer Engineering, University of Illinois, Urbana, Illinois 61801 (United States); Department of Physics, University of Illinois, Urbana, Illinois 61801 (United States)

    2016-02-01

    We describe a self-consistent model for electronic transport in a molybdenum di-sulphide (MoS{sub 2}) layer containing a nanopore in a constricted geometry. Our approach is based on a semi-classical thermionic Poisson-Boltzmann technique using a two-valley model within the effective mass approximation to investigate perturbations caused by the nanopore on the electronic current. In particular, we show that the effect of the nanopore on the conductance is reduced as the nanopore is moved from the center to the layer edges. Our model is applied to the detection of DNA translocating through the nanopore, which reveals current features similar to those as predicted in nanopore graphene layers.

  9. Ballistic phonon transport through a Fibonacci array of acoustic nanocavities in a narrow constriction

    Energy Technology Data Exchange (ETDEWEB)

    Mo Yuan [Department of Applied Physics, Hunan University, Changsha 410082 (China); Huang Weiqing, E-mail: wqhuang2000@yahoo.co [Department of Applied Physics, Hunan University, Changsha 410082 (China); Key Laboratory for Micro-Nano Physics and Technology of Hunan Province, Hunan University, Changsha 410082 (China); CCAST (World Laboratory), P.O. Box 8730, Beijing 100080 (China); Huang Guifang, E-mail: gfhuang@hnu.edu.c [Department of Applied Physics, Hunan University, Changsha 410082 (China); Key Laboratory for Micro-Nano Physics and Technology of Hunan Province, Hunan University, Changsha 410082 (China); Hu Wangyu; Wang Lingling; Pan Anlian [Department of Applied Physics, Hunan University, Changsha 410082 (China); Key Laboratory for Micro-Nano Physics and Technology of Hunan Province, Hunan University, Changsha 410082 (China)

    2011-05-09

    We investigate the ballistic phonon transport through a Fibonacci array of acoustic nanocavities in a narrow constriction of a semiconductor nanowire at low temperatures. It is found that the transmission spectrum of such a system consists of quasiband gaps and narrow resonances caused by the coupling of phonon waves. Both phonon transmission and thermal conductance exhibit the similarity due to the Fibonacci sequence structure. The similarity is sensitive to the number n and parameters of nanocavities. The results are compared with those in a periodic acoustic nanocavities. - Highlights: Ballistic phonon transport in a Fibonacci array of acoustic nanocavities is studied. The transmission spectrum consists of quasiband gaps and narrow resonances. Both phonon transmission and thermal conductance exhibit the similarity. The similarity is sensitive to the number and parameters of nanocavities.

  10. Gas-bubble snap-off under pressure driven flow in constricted noncircular capillaries

    Energy Technology Data Exchange (ETDEWEB)

    Kovscek, A.R.; Radke, C.J.

    1996-04-01

    A model for snap-off of a gas thread in a constricted cornered pore is developed. The time for wetting liquid to accumulate at a pore throat into an unstable collar is examined, as for the resulting pore-spanning lens to be displaced from the pore so that snap-off is the time may repeat. A comer-flow hydrodynamic analysis for the accumulation rate of wetting liquid due to both gradients in interfacial curvature and in applied liquid-phase pressure reveals that wetting-phase pressure gradients significantly increase the frequency of liquid accumulation for snap-off as compared to liquid rearrangement driven only by differences in pore-wall curvature. For moderate and large pressure gradients, the frequency of accumulation increases linearly with pressure gradient because of the increased rate of wetting liquid flow along pore comers. Pore topology is important to the theory, for pores with relatively small throats connected to large bodies demonstrate excellent ability to snapoff gas threads even when the initial capillary pressure is high or equivalently when the liquid saturation is low. A macroscopic momentum balance across the lens resulting from snap-off reveals that lens displacement rates are not linear with the imposed pressure drop. Instead, the frequency of lens displacement scales with powers between 0.5 and 0.6 for pores with dimensionless constriction radii between 0.15 and 0.40. Statistical percolation arguments are employed to form a generation rate expression and connect pore-level foam generation events to macroscopic pressure gradients in porous media. The rate of foam generation by capillary snap-off increases linearly with the liquid-phase pressure gradient and according to a power-law relationship with respect to the imposed gas-phase pressure gradient.

  11. Oral pathology case: congenital epulides

    OpenAIRE

    Amorim, J.

    2010-01-01

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

  12. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

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

  13. Oral pathology case: congenital epulides

    OpenAIRE

    Amorim, J

    2010-01-01

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

  14. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

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

  15. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-12-15

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

  16. Embryology of congenital diaphragmatic hernia.

    Science.gov (United States)

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

    1996-11-01

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

  17. Congenital Chagas disease: an update.

    Science.gov (United States)

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

    2015-05-01

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

  18. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

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

  19. Start-up of flow of a FENE-fluid through a 4:1:4 constriction in a tube

    DEFF Research Database (Denmark)

    Szabo, Peter; Rallison, J.M.; Hinch, E.J.

    1997-01-01

    The flow of a FENE-fluid through a 4:1:4 constriction in a tube is computed by a split Lagrangian-Eulerian finite element method. In steady flow it is found that the upstream vortex grows with increasing Deborah number, while the downstream vortex diminishes and disappears. The steady pressure drop...

  20. Pharmacological correlation between the formalin test and the neuropathic pain behavior in different species with chronic constriction injury.

    NARCIS (Netherlands)

    Vissers, K.C.P.; Geenen, F.; Biermans, R.; Meert, T.F.

    2006-01-01

    Research on mechanisms of drug action, and preclinical screening of molecules with a potential activity on neuropathic pain requires extensive animal work. The chronic constriction injury model is one of the best-characterized models of neuropathic pain behavior in rats, but requires extensive time

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

    Science.gov (United States)

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

    2016-08-01

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

  2. Band structure of semiconductors

    CERN Document Server

    Tsidilkovski, I M

    2013-01-01

    Band Structure of Semiconductors provides a review of the theoretical and experimental methods of investigating band structure and an analysis of the results of the developments in this field. The book presents the problems, methods, and applications in the study of band structure. Topics on the computational methods of band structure; band structures of important semiconducting materials; behavior of an electron in a perturbed periodic field; effective masses and g-factors for the most commonly encountered band structures; and the treatment of cyclotron resonance, Shubnikov-de Haas oscillatio

  3. Congenital absence of uterine cervix

    Directory of Open Access Journals (Sweden)

    Selvaraj Ravi Lakshmy

    2016-10-01

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

  4. Congenital myotonia in related kittens.

    Science.gov (United States)

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

    1998-06-01

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

  5. [Radiological evaluation of congenital tumors].

    Science.gov (United States)

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

    2015-01-01

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

  6. Congenital syphilis: The continuing scourge.

    Science.gov (United States)

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

    2014-01-01

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

  7. Congenital Absence of the Pericardium.

    Science.gov (United States)

    Lopez, David; Asher, Craig R

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

  8. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

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

    2015-10-23

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

  9. [Congenital ranula in a newborn].

    Science.gov (United States)

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

    2007-05-01

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

  10. Enteric neuropathology of congenital intestinal obstruction: A case report

    Institute of Scientific and Technical Information of China (English)

    Giovanni Di Nardo; Rosanna Cogliandro; Cesare Cremon; Alessandra Gori; Roberto Corinaldesi; Kenton M Sanders; Roberto De Giorgio; Vincenzo Stanghellini; Salvatore Cucchiara; Giovanni Barbara; Gianandrea Pasquinelli; Donatella Santini; Cristina Felicani; Gianluca Grazi; Antonio D Pinna

    2006-01-01

    Experimental evidence indicates that chronic mechanical sub-occlusion of the intestine may damage the enteric nervous system (ENS), although data in humans are lacking. We here describe the first case of enteric degenerative neuropathy related to a congenital obstruction of the gut. A 3-year and 9-mo old girl began to complain of vomiting, abdominal distension, constipation with air-fluid levels at plane abdominal radiology.Her subsequent medical history was characterized by 3 operations: the first showed dilated duodeno-jejunal loops in the absence of occlusive lesions; the second (2 years later) was performed to obtain full-thickness biopsies of the dilated intestinal loops and revealed hyperganglionosis at histopathology; the third (9 years after the hyperganglionosis was identified) disclosed a Ladd's band which was removed and the associated gut malrotation was corrected. Repeated intraoperative full-thickness biopsies showed enteric degenerative neuropathy along with reduced interstitial cells of Cajal network in dilated loops above the obstruction and a normal neuromuscular layer below the Ladd's band. One year after the latest surgery the patient tolerated oral feeding and did well, suggesting that congenital (partial) mechanical obstruction of the small bowel in humans can evoke progressive adaptive changes of the ENS which are similar to those found in animal models of intestinal mechanical occlusion. Such ENS changes mimic neuronal abnormalities observed in intestinal pseudoobstruction.

  11. Congenital hypopituitarism and renal failure

    Directory of Open Access Journals (Sweden)

    Gaurav Atreja

    2011-01-01

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

  12. Congenital deficiency of factor VII.

    Science.gov (United States)

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

    1996-01-01

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

  13. Laboratory Diagnosis of Congenital Toxoplasmosis

    OpenAIRE

    2016-01-01

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

  14. Clinicobacteriological Significance in Congenital Dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bhavna Raina, Sudhir Bhagotra

    2010-10-01

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

  15. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    OpenAIRE

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

    2015-01-01

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

  16. Syndromes with congenital brittle bones

    Directory of Open Access Journals (Sweden)

    Plotkin Horacio

    2004-08-01

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

  17. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1992-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Gholamhossein Ghaffarpour

    2014-01-01

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

  20. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

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

    2014-01-01

    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  1. Inhibition of Uncoupling Protein 2 Attenuates Cardiac Hypertrophy Induced by Transverse Aortic Constriction in Mice

    Directory of Open Access Journals (Sweden)

    Xiao-Bing Ji

    2015-07-01

    Full Text Available Background: Uncoupling protein 2 (UCP2 is critical in regulating energy metabolism. Due to the significant change in energy metabolism of myocardium upon pressure overload, we hypothesize that UCP2 could contribute to the etiology of cardiac hypertrophy. Methods: Adult male C57BL/6J mice were subjected to pressure overload by using transverse aortic constriction (TAC, and then received genipin (a UCP2 selective inhibitor; 25 mg/kg/d, ip or vehicle for three weeks prior to histologic assessment of myocardial hypertrophy. ATP concentration, ROS level, and myocardial apoptosis were also examined. A parallel set of experiments was also conducted in UCP2-/- mice. Results: TAC induced left ventricular hypertrophy, as reflected by increased ventricular weight/thickness and increased size of myocardial cell (vs. sham controls. ATP concentration was decreased; ROS level was increased. Apoptosis and fibrosis markers were increased. TAC increased mitochondrial UCP2 expression in the myocardium at both mRNA and protein levels. Genipin treatment attenuated cardiac hypertrophy and the histologic/biochemical changes described above. Hypertrophy and associated changes induced by TAC in UCP2-/- mice were much less pronounced than in WT mice. Conclusions: Blocking UCP2 expression attenuates cardiac hypertrophy induced by pressure overload.

  2. Analgesic effect of gabapentin in a rat model for chronic constrictive injury

    Institute of Scientific and Technical Information of China (English)

    MA Lu-lu; LIU Wei; HUANG Yu-guang; YANG Nan; ZUO Ping-ping

    2011-01-01

    Background Gabapentin has been widely and successfully used in the clinic for many neuropathic pain syndromes since last decade,however its analgesic mechanisms are still elusive.Our study was to investigate whether Ca2+/calmodulin-dependent protein kinase II (CaMKII) contributes to the analgesic effect of gabapentin on a chronic constriction injury (CCI) model.Methods Gabapentin (2%,100 mg/kg) or saline (0.5 mil100 g) was injected intraperitoneally 15 minutes prior to surgery and then every 12 hours from postoperative day 0-4 to all rats in control,sham and CCI groups.The analgesic effect of gabapentin was assessed by measuring mechanical allodynia and thermal hyperalgesia of rats.Expression and activation of CaMKII were quantified by reverse-transcriptional polymerase chain reaction and Western blotting.Results The analgesic effect of gabapentin on mechanical allodynia and thermal hyperalgesia was significant in the CCI model,with maximal reduction reached on postoperative day 8.Gabapentin decreased the expression of the total CaMKII and phosphorylated CaMKII in CCI rats.Conclusion The analgesic effect of gabapentin on CCI rats may be related to the decreased expression and phosphorylation of CaMKII in the spinal cord.

  3. Constriction of the buccal branch of the facial nerve produces unilateral craniofacial allodynia.

    Science.gov (United States)

    Lewis, Susannah S; Grace, Peter M; Hutchinson, Mark R; Maier, Steven F; Watkins, Linda R

    2016-12-18

    Despite pain being a sensory experience, studies of spinal cord ventral root damage have demonstrated that motor neuron injury can induce neuropathic pain. Whether injury of cranial motor nerves can also produce nociceptive hypersensitivity has not been addressed. Herein, we demonstrate that chronic constriction injury (CCI) of the buccal branch of the facial nerve results in long-lasting, unilateral allodynia in the rat. An anterograde and retrograde tracer (3000MW tetramethylrhodamine-conjugated dextran) was not transported to the trigeminal ganglion when applied to the injury site, but was transported to the facial nucleus, indicating that this nerve branch is not composed of trigeminal sensory neurons. Finally, intracisterna magna injection of interleukin-1 (IL-1) receptor antagonist reversed allodynia, implicating the pro-inflammatory cytokine IL-1 in the maintenance of neuropathic pain induced by facial nerve CCI. These data extend the prior evidence that selective injury to motor axons can enhance pain to supraspinal circuits by demonstrating that injury of a facial nerve with predominantly motor axons is sufficient for neuropathic pain, and that the resultant pain has a neuroimmune component.

  4. Stabilization of membrane necks by adhesive particles, substrate surfaces, and constriction forces.

    Science.gov (United States)

    Agudo-Canalejo, Jaime; Lipowsky, Reinhard

    2016-10-21

    Membrane remodelling processes involving the formation and fission of small buds require the formation and closure of narrow membrane necks, both for biological membranes and for model membranes such as lipid bilayers. The conditions required for the stability of such necks are well understood in the context of budding of vesicles with bilayer asymmetry and/or intramembrane domains. In many cases, however, the necks form in the presence of an adhesive surface, such as a solid particle or substrate, or the cellular cortex itself. Examples of such processes in biological cells include endocytosis, exocytosis and phagocytosis of solid particles, the formation of extracellular and outer membrane vesicles by eukaryotic and prokaryotic cells, as well as the closure of the cleavage furrow in cytokinesis. Here, we study the interplay of curvature elasticity, membrane-substrate adhesion, and constriction forces to obtain generalized stability conditions for closed necks which we validate by numerical energy minimization. We then explore the consequences of these stability conditions in several experimentally accessible systems such as particle-filled membrane tubes, supported lipid bilayers, giant plasma membrane vesicles, bacterial outer membrane vesicles, and contractile rings around necks. At the end, we introduce an intrinsic engulfment force that directly describes the interplay between curvature elasticity and membrane-substrate adhesion.

  5. Pressure Overload by Transverse Aortic Constriction Induces Maladaptive Hypertrophy in a Titin-Truncated Mouse Model

    Directory of Open Access Journals (Sweden)

    Qifeng Zhou

    2015-01-01

    Full Text Available Mutations in the giant sarcomeric protein titin (TTN are a major cause for inherited forms of dilated cardiomyopathy (DCM. We have previously developed a mouse model that imitates a TTN truncation mutation we found in a large pedigree with DCM. While heterozygous Ttn knock-in mice do not display signs of heart failure under sedentary conditions, they recapitulate the human phenotype when exposed to the pharmacological stressor angiotensin II or isoproterenol. In this study we investigated the effects of pressure overload by transverse aortic constriction (TAC in heterozygous (Het Ttn knock-in mice. Two weeks after TAC, Het mice developed marked impairment of left ventricular ejection fraction (p<0.05, while wild-type (WT TAC mice did not. Het mice also trended toward increased ventricular end diastolic pressure and volume compared to WT littermates. We found an increase in histologically diffuse cardiac fibrosis in Het compared to WT in TAC mice. This study shows that a pattern of DCM can be induced by TAC-mediated pressure overload in a TTN-truncated mouse model. This model enlarges our arsenal of cardiac disease models, adding a valuable tool to understand cardiac pathophysiological remodeling processes and to develop therapeutic approaches to combat heart failure.

  6. Noradrenergic constriction of cerebral arteries as detected by transcranial Doppler (TCD) in the rabbit.

    Science.gov (United States)

    Roatta, S; Canova, D; Bosone, D; Micieli, G; Passatore, M

    2003-10-01

    Interpretation of transcranial Doppler (TCD) recordings requires assumptions about flow or diameter of the insonated vessel. This study aimed at assessing if activation of the sympathetic system could affect blood velocity (bv) in basal cerebral arteries. In anaesthetized rabbits, stimulation of cervical sympathetic nerve (cervSN) was used selectively to activate the sympathetic pathway to the head while monitoring bv in all major cerebral arteries. cervSN stimulation at 10 Hz produced: 1. in internal carotid artery (ICA) and ICA-supplied arteries (ICA-s), a consistent bv increase ranging between 20 and 70%, 2. in the basilar artery, a transient decrease by 15-30%. These effects were mimicked, in both territories, by injection of phenylephrine into the ICA. Because cerebral blood flow is known to be reduced by cervSN stimulation, the increase in bv in ICA and ICA-s must be ascribed to constriction of the insonated vessels. These effects should be considered when monitoring bv during sympathetic activation tests or exercise.

  7. High Current-Induced Electron Redistribution in a CVD-Grown Graphene Wide Constriction

    Directory of Open Access Journals (Sweden)

    Chiashain Chuang

    2016-01-01

    Full Text Available Investigating the charge transport behavior in one-dimensional quantum confined system such as the localized states and interference effects due to the nanoscale grain boundaries and merged domains in wide chemical vapor deposition graphene constriction is highly desirable since it would help to realize industrial graphene-based electronic device applications. Our data suggests a crossover from interference coherent transport to carriers flushing into grain boundaries and merged domains when increasing the current. Moreover, many-body fermionic carriers with disordered system in our case can be statistically described by mean-field Gross-Pitaevskii equation via a single wave function by means of the quantum hydrodynamic approximation. The novel numerical simulation method supports the experimental results and suggests that the extreme high barrier potential regions on graphene from the grain boundaries and merged domains can be strongly affected by additional hot charges. Such interesting results could pave the way for quantum transport device by supplying additional hot current to flood into the grain boundaries and merged domains in one-dimensional quantum confined CVD graphene, a great advantage for developing graphene-based coherent electronic devices.

  8. CONSTRICTED PARTICLE SWARM OPTIMIZATION FOR DESIGN OF COLLINEAR ARRAY OF UNEQUAL LENGTH DIPOLE ANTENNAS

    Directory of Open Access Journals (Sweden)

    Banani Basu

    2010-06-01

    Full Text Available A method based on constricted Particle Swarm Optimization (CPSO algorithm to design a non-uniformly spaced collinear array of thin dipole antennas of unequal height is proposed. This paper presents a method for computing the appropriate excitation and geometry of individual array elements to generate a pencil beam in the vertical plane with minimum Standing Wave Ratio (SWR and fixed Side Lobe Level (SLL. Coupling effect between any two collinear center-fed thin dipole antennas having sinusoidal current distributions is analyzed using induced EMF method and minimized in terms of SWR. DRR of excitation distribution is fixed at a lower value for further mitigation of the coupling effect. Phase distribution for all the elements is kept at zero degree for broadside array. Optimization results show the effectiveness of the algorithm for the design of the array. Moreover method seems very conducive for estimating the mutual impedance between any two collinear center-fed thin dipole antennas having sinusoidal current distributions.

  9. Investigation of helium ion production in constricted direct current plasma ion source with layered-glows

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yuna [Department of Nuclear Engineering, Seoul National University, Seoul 151-744 (Korea, Republic of); Chung, Kyoung-Jae, E-mail: jkjlsh1@snu.ac.kr [Center for Advance Research in Fusion Reactor Engineering, Seoul National University, Seoul 151-744 (Korea, Republic of); Park, Yeong-Shin [Samsumg Electronics Co. Ltd., Gyeonggi 445-701 (Korea, Republic of); Hwang, Y. S. [Department of Nuclear Engineering, Seoul National University, Seoul 151-744 (Korea, Republic of); Center for Advance Research in Fusion Reactor Engineering, Seoul National University, Seoul 151-744 (Korea, Republic of)

    2014-02-15

    Generation of helium ions is experimentally investigated with a constricted direct current (DC) plasma ion source operated at layered-glow mode, in which electrons could be accelerated through multiple potential structures so as to generate helium ions including He{sup 2+} by successive ionization collisions in front of an extraction aperture. The helium discharge is sustained with the formation of a couple of stable layers and the plasma ball with high density is created near the extraction aperture at the operational pressure down to 0.6 Torr with concave cathodes. The ion beam current extracted with an extraction voltage of 5 kV is observed to be proportional to the discharge current and inversely proportional to the operating pressure, showing high current density of 130 mA/cm{sup 2} and power density of 0.52 mA/cm{sup 2}/W. He{sup 2+} ions, which were predicted to be able to exist due to multiple-layer potential structure, are not observed. Simple calculation on production of He{sup 2+} ions inside the plasma ball reveals that reduced operating pressure and increased cathode area will help to generate He{sup 2+} ions with the layered-glow DC discharge.

  10. Effect of Right Heart Systolic Function on Outcomes in Patients with Constrictive Pericarditis Undergoing Pericardiectomy

    Institute of Scientific and Technical Information of China (English)

    Xue Lin; Rui-Yi Xu; Jian-Zhou Liu; Wei Chen; Lian-Feng Chen; Peng-Hua Yang; Li-Gang Fang

    2016-01-01

    Background:To determine the influence of right ventricular function in patients with constrictive pericarditis (CP) undergoing surgery and to compare the outcomes of patients who received surgery with those managed medically.Methods:Patients with the diagnosis of CP and healthy volunteers were recruited from January 2006 to November 2011.Patients with CP chose to either receive pericardiectomy or medical management.Echocardiographic measurements were performed to evaluate heart function,and survival was recorded.Results:A total of 58 patients with CP (36 received pericardiectomy,22 managed medically),and 43 healthy volunteers were included.CP patients who received surgery had a higher survival rate than those managed medically (P =0.003),and higher survival was also seen in the subgroup of CP patients with severely impaired right systolic function.Albumin level,left ventricular end-diastolic dimension,and tricuspid regurgitation velocity were associated with survival in CP patients who received surgery.Conclusions:Preoperative right heart function does not affect surgical outcomes.Patients with severely impaired preoperative right systolic function obtain a greater survival advantage with surgery than with medical treatment.

  11. Effect of Right Heart Systolic Function on Outcomes in Patients with Constrictive Pericarditis Undergoing Pericardiectomy

    Directory of Open Access Journals (Sweden)

    Xue Lin

    2016-01-01

    Full Text Available Background: To determine the influence of right ventricular function in patients with constrictive pericarditis (CP undergoing surgery and to compare the outcomes of patients who received surgery with those managed medically. Methods: Patients with the diagnosis of CP and healthy volunteers were recruited from January 2006 to November 2011. Patients with CP chose to either receive pericardiectomy or medical management. Echocardiographic measurements were performed to evaluate heart function, and survival was recorded. Results: A total of 58 patients with CP (36 received pericardiectomy, 22 managed medically, and 43 healthy volunteers were included. CP patients who received surgery had a higher survival rate than those managed medically (P = 0.003, and higher survival was also seen in the subgroup of CP patients with severely impaired right systolic function. Albumin level, left ventricular end-diastolic dimension, and tricuspid regurgitation velocity were associated with survival in CP patients who received surgery. Conclusions: Preoperative right heart function does not affect surgical outcomes. Patients with severely impaired preoperative right systolic function obtain a greater survival advantage with surgery than with medical treatment.

  12. Reversal by arterial hypercapnia of phorbol ester-induced cerebrovascular constriction in piglets

    Energy Technology Data Exchange (ETDEWEB)

    Busija, D.W.; Smith, T.L.; Jing Chen (Bowman Gray School of Medicine, Winston-Salem, NC (United States))

    1991-03-11

    Phorbol 12,13 Dibutyrate (PDB), an activator of protein kinase C, causes pronounced and sustained constriction of piglet pial arterioles. The authors investigated whether a physiological stimulus, namely arterial hypercapnia, could still dilate pial arterioles in the presence of PDB. A closed cranial window was implanted over the parietal cortex of piglets, 1-5 days of age, and diameter of one arteriole determined by intravital microscopy. Diameter was determined during baseline conditions, after topical application of 10{sup {minus}6}M(n = 2) or 10{sup {minus}5}M(n = 4) PDB, and during arterial hypercapnia induced by inhalation of 10% CO{sub 2} air. PDB was flushed out from under the window prior to the latter two measurements. Arteriolar diameter was 130 {plus minus} 14 um (n = 6) during baseline, and decreased to 82 {plus minus} 13 um after PDB application. However, during arterial hypercapnia, diameter increased to 153 {plus minus} 14 um. Following hypercapnia, diameter returned to values seen in the presence of PDB alone. The authors conclude that arterial hypercapnia is able to counteract the effects of PDB, possibly by activating a more potent intracellular mechanism or by interfering with protein kinase C related events involved in smooth muscle contraction.

  13. Folate receptor alpha is necessary for neural plate cell apical constriction during Xenopus neural tube formation.

    Science.gov (United States)

    Balashova, Olga A; Visina, Olesya; Borodinsky, Laura N

    2017-03-02

    Folate supplementation prevents up to 70% of neural tube defects (NTDs), which result from a failure of neural tube closure during embryogenesis. The elucidation of the mechanisms underlying folate action has been challenging. This study introduces Xenopus laevis as a model to determine the cellular and molecular mechanisms involved in folate action during neural tube formation. We show that knockdown of folate receptor-α (FRα) impairs neural tube formation and leads to NTDs. FRα knockdown in neural plate cells only is necessary and sufficient to induce NTDs. FRα-deficient neural plate cells fail to constrict, resulting in widening of the neural plate midline and defective neural tube closure. Pharmacological inhibition of folate action by methotrexate during neurulation induces NTDs by inhibiting folate interaction with its uptake systems. Our findings support a model for folate receptor interacting with cell adhesion molecules, thus regulating apical cell membrane remodeling and cytoskeletal dynamics necessary for neural plate folding. Further studies in this organism may unveil novel cellular and molecular events mediated by folate and lead to new means for preventing NTDs.

  14. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-06-15

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

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

    Science.gov (United States)

    Munteanu, M

    2005-01-01

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

  16. Congenital Pseudoarthrosis of the Tibia: Case Reports

    Directory of Open Access Journals (Sweden)

    Mehmet Bulut

    2014-03-01

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

  17. Prenatal Diagnosis of Amniotic Band Syndrome in the Third Trimester of Pregnancy using 3D Ultrasound

    Directory of Open Access Journals (Sweden)

    Luciano Marcondes Machado Nardozza

    2012-01-01

    Full Text Available Amniotic band syndrome is characterized by a build-up of bands and strings of fibrous tissue that adhere to the fetus and can compress parts of the fetus, thus causing malformations and even limb amputation while the fetus is still in the uterus. The clinical manifestations are extremely variable and their extent may range from a single abnormality, like a constriction ring, to multiple abnormalities. Such abnormalities are generally diagnosed at the end of the first or the beginning of the second trimester using two-dimensional ultrasonography (2DUS. Three-dimensional ultrasonography (3DUS in rendering mode allows spatial analysis of the fetus and amniotic band, thus enabling better comprehension of this pathological condition and better counseling for the parents. There has not previously been any evidence to show that 3DUS would be useful in cases of late diagnosis (third trimester of amniotic band syndrome. In the present case, a primigravid woman underwent her second obstetric ultrasound scan in the 34 th week, from which we observed two bands in contact with the right forearm, but with normal movement of this limb and its fingers. 3DUS made it possible to see the spatial relationship of these bands to the fetal body, thereby confirming their adherence to the limb. After the birth, the prenatal diagnosis of amniotic band syndrome without limb constriction was confirmed. A surgical procedure was carried out on the third day after birth to excise the bands, and the newborn was then discharged in a good general condition.

  18. Band parameters of phosphorene

    DEFF Research Database (Denmark)

    Lew Yan Voon, L. C.; Wang, J.; Zhang, Y.;

    2015-01-01

    Phosphorene is a two-dimensional nanomaterial with a direct band-gap at the Brillouin zone center. In this paper, we present a recently derived effective-mass theory of the band structure in the presence of strain and electric field, based upon group theory. Band parameters for this theory...

  19. Development and Congenital Anomalies of the Pancreas

    Directory of Open Access Journals (Sweden)

    Hiroyuki Tadokoro

    2011-01-01

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

  20. History of the Congenital Heart Surgeons' Society.

    Science.gov (United States)

    Mavroudis, Constantine; Williams, William G

    2015-10-01

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

  1. Congenital pseudoarthrosis of the clavicle with bifurcation

    Directory of Open Access Journals (Sweden)

    Narender Kumar Magu

    2014-01-01

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

  2. Low Power Band to Band Tunnel Transistors

    Science.gov (United States)

    2010-12-15

    the E-field and tunneling at the source- pocket junction you form a parasitic NPN + transistor and the injection mechanism of carriers into the...hypothesis that the 1000 ° C, 5s anneal split lead to a very wide pocket and the accidental formation of a NPN + transistor , while the 1000 ° C, 1s anneal...Low Power Band to Band Tunnel Transistors Anupama Bowonder Electrical Engineering and Computer Sciences University of California at Berkeley

  3. Non-constrictive bead immobilization leading to decreased and uniform shear stress in microfluidic bead-based ELISA

    CERN Document Server

    Mitra, Kinshuk; Chidambaram, Preethi; Maharry, Aaron P; Xu, Ronald X; Tweedle, Michael F

    2014-01-01

    Microfluidic biosensors have been utilized for sensing a wide range of antigens using numerous configurations. Bead based microfluidic sensors have been a popular modality due to the plug and play nature of analyte choice and the favorable geometry of spherical sensor scaffolds. While constriction of beads against fluid flow remains a popular method to immobilize the sensor, it results in poor fluidic regimes and shear conditions around sensor beads that can affect sensor performance. We present an alternative means of sensor bead immobilization using poly-carbonate membrane. This system results in several orders of magnitude lower variance of flow radially around the sensor bead. Shear stress experienced by our non-constrictive immobilized bead was three orders of magnitude lower. We demonstrate ability to quantitatively sense EpCAM protein, a marker for cancer stem cells and operation under both far-red and green wavelengths with no auto-fluorescence.

  4. Hypoxia-induced 15-HETE enhances the constriction of internal carotid arteries by down-regulating potassium channels.

    Science.gov (United States)

    Zhu, Yanmei; Chen, Li; Liu, Wenjuan; Wang, Weizhi; Zhu, Daling; Zhu, Yulan

    2010-08-15

    Severe hypoxia induces the constriction of internal carotid arteries (ICA), which worsens ischemic stroke in the brain. A few metabolites are presumably involved in hypoxic vasoconstriction, however, less is known about how such molecules provoke this vasoconstriction. We have investigated the influence of 15-hydroxyeicosatetrienoic acid (15-HETE) produced by 15-lipoxygenase (15-LOX) on vasoconstriction during hypoxia. As showed in our results, 15-LOX level increases in ICA endothelia and smooth muscles. 15-HETE enhances the tension of ICA ring in a dose-dependent manner, as well as attenuates the activities and expression of voltage-gated potassium channels (Kv 1.5 and Kv 2.1). Therefore, the down-regulation of Kv channels by 15-HETE during hypoxia may weaken the repolarization of action potentials and causes a dominant influx of calcium ions to enhance smooth muscle tension and ICA constriction.

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

    Science.gov (United States)

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  7. TRPA1 and TRPV1 contribute to propofol-mediated antagonism of U46619-induced constriction in murine coronary arteries.

    Science.gov (United States)

    Sinharoy, Pritam; Bratz, Ian N; Sinha, Sayantani; Showalter, Loral E; Andrei, Spencer R; Damron, Derek S

    2017-01-01

    Transient receptor potential (TRP) ion channels have emerged as key components contributing to vasoreactivity. Propofol, an anesthetic is associated with adverse side effects including hypotension and acute pain upon infusion. Our objective was to determine the extent to which TRPA1 and/or TRPV1 ion channels are involved in mediating propofol-induced vasorelaxation of mouse coronary arterioles in vitro and elucidate the potential cellular signal transduction pathway by which this occurs. Hearts were excised from anesthetized mice and coronary arterioles were dissected from control C57Bl/6J, TRPA1-/-, TRPV1-/- and double-knockout mice (TRPAV-/-). Isolated microvessels were cannulated and secured in a temperature-controlled chamber and allowed to equilibrate for 1 hr. Vasoreactivity studies were performed in microvessels pre-constricted with U46619 to assess the dose-dependent relaxation effects of propofol on coronary microvascular tone. Propofol-induced relaxation was unaffected in vessels obtained from TRPV1-/- mice, markedly attenuated in pre-constricted vessels obtained from TRPA1-/- mice and abolished in vessels obtained from TRPAV-/- mice. Furthermore, NOS inhibition with L-NAME or endothelium denuding abolished the proporfol-induced depressor response in pre-constricted vessels obtained from all mice. In the absence of L-NAME, BKCa inhibition with penitrem A markedly attenuated propofol-mediated relaxation in vessels obtained from wild-type mice and to a lesser extent in vessels obtained from TRPV1-/-, mice with no effect in vessels obtained from TRPA1-/- or TRPAV-/- mice. TRPA1 and TRPV1 appear to contribute to the propofol-mediated antagonism of U46619-induced constriction in murine coronary microvessels that involves activation of NOS and BKCa.

  8. The alkylation response protein AidB is localized at the new poles and constriction sites in Brucella abortus

    Directory of Open Access Journals (Sweden)

    Dotreppe Delphine

    2011-11-01

    Full Text Available Abstract Background Brucella abortus is the etiological agent of a worldwide zoonosis called brucellosis. This alpha-proteobacterium is dividing asymmetrically, and PdhS, an essential histidine kinase, was reported to be an old pole marker. Results We were interested to identify functions that could be recruited to bacterial poles. The Brucella ORFeome, a collection of cloned predicted coding sequences, was placed in fusion with yellow fluorescent protein (YFP coding sequence and screened for polar localizations in B. abortus. We report that AidB-YFP was systematically localized to the new poles and at constrictions sites in B. abortus, either in culture or inside infected HeLa cells or RAW264.7 macrophages. AidB is an acyl-CoA dehydrogenase (ACAD homolog, similar to E. coli AidB, an enzyme putatively involved in destroying alkylating agents. Accordingly, a B. abortus aidB mutant is more sensitive than the wild-type strain to the lethality induced by methanesulphonic acid ethyl ester (EMS. The exposure to EMS led to a very low frequency of constriction events, suggesting that cell cycle is blocked during alkylation damage. The localization of AidB-YFP at the new poles and at constriction sites seems to be specific for this ACAD homolog since two other ACAD homologs fused to YFP did not show specific localization. The overexpression of aidB, but not the two other ACAD coding sequences, leads to multiple morphological defects. Conclusions Data reported here suggest that AidB is a marker of new poles and constriction sites, that could be considered as sites of preparation of new poles in the sibling cells originating from cell division. The possible role of AidB in the generation or the function of new poles needs further investigation.

  9. Effects of Hegu(LI 4)and Taichong(LR 3)on Vascular Dilation and Constriction in Migraine Patients

    Institute of Scientific and Technical Information of China (English)

    何丽华; 林咸明

    2009-01-01

    @@ Hegu(LI 4)and Taichong(LR 3)are the Yuan-Primary acupoints of the Large Intestine and Liver Meridian,and are collectively named as Si Guan (four gates)point.Combined use of these two acupoints can harmonize yin and yang,regulate qi and blood,and balance ascending or descending.This paper attempts to study the effects of Si Guan point on the vascular dilation and constriction in migraine patients from the perspective of its feature.

  10. Solvothermal Metal Metathesis on a Metal-Organic Framework with Constricted Pores and the Study of Gas Separation.

    Science.gov (United States)

    Li, Liangjun; Xue, Haitao; Wang, Ying; Zhao, Pinhui; Zhu, Dandan; Jiang, Min; Zhao, Xuebo

    2015-11-18

    Metal-organic frameworks (MOFs) with constricted pores can increase the adsorbate density of gas and facilitate effective CO2 separation from flue gas or natural gas due to their enhanced overlapping of potential fields of the pores. Herein, an MOF with constricted pores, which was formed by narrow channels and blocks of functional groups, was fabricated from the assembly of a methyl-functionalized ligand and Zn(II) centers (termed NPC-7-Zn). Structural analysis of the as-synthesized NPC-7-Zn reveals a series of zigzag pores with pore diameters of ∼0.7 nm, which could be favorable for CO2 traps. For reinforcing the framework stability, a solvothermal metal metathesis on the pristine MOF NPC-7-Zn was performed, and a new Cu(II) MOF (termed NPC-7-Cu) with an identical framework was produced. The influence of the reaction temperatures on the metal metathesis process was investigated. The results show that the constricted pores in NPC-7-Zn can induce kinetic issues that largely slow the metal metathesis process at room temperature. However, this kinetic issue can be solved by applying higher reaction temperatures. The modified MOF NPC-7-Cu exhibits significant improvements in framework stability and thus leads to a permanent porosity for this framework. The constricted pore structure enables enhanced potential fields for these pores, rendering this MOF with high adsorbate densities for CO2 and high adsorption selectivity for a CO2/N2 gas mixture. The adsorption kinetic studies reveal that CH4 has a faster diffusion rate constant than CO2, showing a surface diffusion controlled mechanism for CO2 and CH4 adsorption.

  11. Drechslerella stenobrocha genome illustrates the mechanism of constricting rings and the origin of nematode predation in fungi

    OpenAIRE

    Liu, Keke; Zhang, Weiwei; Lai, Yiling; Xiang, Meichun; Wang, Xiuna; Zhang, Xinyu; Liu, Xingzhong

    2014-01-01

    Background Nematode-trapping fungi are a unique group of organisms that can capture nematodes using sophisticated trapping structures. The genome of Drechslerella stenobrocha, a constricting-ring-forming fungus, has been sequenced and reported, and provided new insights into the evolutionary origins of nematode predation in fungi, the trapping mechanisms, and the dual lifestyles of saprophagy and predation. Results The genome of the fungus Drechslerella stenobrocha, which mechanically traps n...

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

    Science.gov (United States)

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

    2015-02-01

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

  13. Surgical Management of Massive Pericardial Effusion and Predictors for Development of Constrictive Pericarditis in a Resource Limited Setting

    Directory of Open Access Journals (Sweden)

    Emeka B. Kesieme

    2016-01-01

    Full Text Available Background. The diagnosis and treatment of massive pericardial effusion and cardiac tamponade have evolved over the years with a tendency towards a more comprehensive diagnostic workup and less traumatic intervention. Method. We reviewed and analysed the data of 32 consecutive patients who underwent surgery on account of massive pericardial effusion and cardiac tamponade in a semiurban university hospital in Nigeria from February 2010 to February 2016. Results. The majority of patients (34.4% were between 31 and 40 years. Fourteen patients (43.8% presented with clinical and echocardiographic feature of cardiac tamponade. The majority of patients (59.4% presented with haemorrhagic pericardial effusion and the average volume of fluid drained intraoperatively was 846 mL  ± 67 mL. Pericardium was thickened in 50% of cases. Subxiphoid pericardiostomy was performed under local anaesthesia in 28 cases. No postoperative recurrence was observed; however 5 patients developed features of constrictive pericarditis. The relationship between pericardial thickness and development of pericardial constriction was statistically significant (p=0.004. Conclusion. Subxiphoid pericardiostomy is a very effective way of treating massive pericardial effusion. Removing tube after adequate drainage (50 mL/day and treatment of primary pathology are key to preventing recurrence. There is also a need to follow up patients to detect pericardial constriction especially those with thickened pericardium.

  14. Surgical Management of Massive Pericardial Effusion and Predictors for Development of Constrictive Pericarditis in a Resource Limited Setting.

    Science.gov (United States)

    Kesieme, Emeka B; Okokhere, Peter O; Iruolagbe, Christopher Ojemiega; Odike, Angela; Owobu, Clifford; Akhigbe, Theophilus

    2016-01-01

    Background. The diagnosis and treatment of massive pericardial effusion and cardiac tamponade have evolved over the years with a tendency towards a more comprehensive diagnostic workup and less traumatic intervention. Method. We reviewed and analysed the data of 32 consecutive patients who underwent surgery on account of massive pericardial effusion and cardiac tamponade in a semiurban university hospital in Nigeria from February 2010 to February 2016. Results. The majority of patients (34.4%) were between 31 and 40 years. Fourteen patients (43.8%) presented with clinical and echocardiographic feature of cardiac tamponade. The majority of patients (59.4%) presented with haemorrhagic pericardial effusion and the average volume of fluid drained intraoperatively was 846 mL  ± 67 mL. Pericardium was thickened in 50% of cases. Subxiphoid pericardiostomy was performed under local anaesthesia in 28 cases. No postoperative recurrence was observed; however 5 patients developed features of constrictive pericarditis. The relationship between pericardial thickness and development of pericardial constriction was statistically significant (p = 0.004). Conclusion. Subxiphoid pericardiostomy is a very effective way of treating massive pericardial effusion. Removing tube after adequate drainage (50 mL/day) and treatment of primary pathology are key to preventing recurrence. There is also a need to follow up patients to detect pericardial constriction especially those with thickened pericardium.

  15. A multi-layered protein network stabilizes the Escherichia coli FtsZ-ring and modulates constriction dynamics.

    Directory of Open Access Journals (Sweden)

    Jackson Buss

    2015-04-01

    Full Text Available The prokaryotic tubulin homolog, FtsZ, forms a ring-like structure (FtsZ-ring at midcell. The FtsZ-ring establishes the division plane and enables the assembly of the macromolecular division machinery (divisome. Although many molecular components of the divisome have been identified and their interactions extensively characterized, the spatial organization of these proteins within the divisome is unclear. Consequently, the physical mechanisms that drive divisome assembly, maintenance, and constriction remain elusive. Here we applied single-molecule based superresolution imaging, combined with genetic and biophysical investigations, to reveal the spatial organization of cellular structures formed by four important divisome proteins in E. coli: FtsZ, ZapA, ZapB and MatP. We show that these interacting proteins are arranged into a multi-layered protein network extending from the cell membrane to the chromosome, each with unique structural and dynamic properties. Further, we find that this protein network stabilizes the FtsZ-ring, and unexpectedly, slows down cell constriction, suggesting a new, unrecognized role for this network in bacterial cell division. Our results provide new insight into the structure and function of the divisome, and highlight the importance of coordinated cell constriction and chromosome segregation.

  16. Sound frequency affects speech emotion perception: Results from congenital amusia

    Directory of Open Access Journals (Sweden)

    Sydney eLolli

    2015-09-01

    Full Text Available Congenital amusics, or tone-deaf individuals, show difficulty in perceiving and producing small pitch differences. While amusia has marked effects on music perception, its impact on speech perception is less clear. Here we test the hypothesis that individual differences in pitch perception affect judgment of emotion in speech, by applying band-pass filters to spoken statements of emotional speech. A norming study was first conducted on Mechanical Turk to ensure that the intended emotions from the Macquarie Battery for Evaluation of Prosody (MBEP were reliably identifiable by US English speakers. The most reliably identified emotional speech samples were used in in Experiment 1, in which subjects performed a psychophysical pitch discrimination task, and an emotion identification task under band-pass and unfiltered speech conditions. Results showed a significant correlation between pitch discrimination threshold and emotion identification accuracy for band-pass filtered speech, with amusics (defined here as those with a pitch discrimination threshold > 16 Hz performing worse than controls. This relationship with pitch discrimination was not seen in unfiltered speech conditions. Given the dissociation between band-pass filtered and unfiltered speech conditions, we inferred that amusics may be compensating for poorer pitch perception by using speech cues that are filtered out in this manipulation.

  17. Facial clefts and associated limb anomalies: description of three cases and a review of the literature.

    Science.gov (United States)

    Obdeijn, M C; Offringa, P J; Bos, R R M; Verhagen, A A E; Niessen, F B; Roche, N A

    2010-11-01

    Facial clefts are rare congenital malformations. In the literature these are sometimes reported in combination with limb malformations, especially ring constrictions. This article describes three children with facial clefts and limb ring constrictions with various expressions. The first case has a lateral cleft with associated limb malformations. This combination has, to our knowledge, not yet been reported. The literature about facial clefting and the amniotic band syndrome and the possible etiology of clefting and constrictions in these cases are discussed.

  18. Maxillary constriction: are there differences between anterior and posterior regions? Atresia maxilar: há diferenças entre as regiões anterior e posterior?

    National Research Council Canada - National Science Library

    Regina Helena Lourenço Belluzzo; Kurt Faltin Junior; Cícero Ermínio Lascala; Lucas Bacci Renno Vianna

    2012-01-01

    OBJECTIVE: To evaluate the transverse constriction of the maxilla in both anterior and posterior regions, using Korkhaus analysis and to check whether there were any statistically significant differences within its values. METHOD...

  19. Relaxation of endothelin-1-induced pulmonary arterial constriction by niflumic acid and NPPB: mechanism(s) independent of chloride channel block.

    Science.gov (United States)

    Kato, K; Evans, A M; Kozlowski, R Z

    1999-03-01

    We investigated the effects of the Cl- channel blockers niflumic acid, 5-nitro-2-(3-phenylpropylamino)-benzoic acid (NPPB) and 4, 4'-diisothiocyanatostilbene-2,2'-disulphonic acid (DIDS) on endothelin-1 (ET-1)-induced constriction of rat small pulmonary arteries (diameter 100-400 microm) in vitro, following endothelium removal. ET-1 (30 nM) induced a sustained constriction of rat pulmonary arteries in physiological salt solution. Arteries preconstricted with ET-1 were relaxed by niflumic acid (IC50: 35.8 microM) and NPPB (IC50: 21.1 microM) in a reversible and concentration-dependent manner. However, at concentrations known to block Ca++-activated Cl- channels, DIDS (constriction. Similar results were obtained when pulmonary arteries were preincubated with these Cl- channel blockers. When L-type Ca++ channels were blocked by nifedipine (10 microM), the ET-1-induced (30 nM) constriction was inhibited by only 5.8%. However, niflumic acid (30 microM) and NPPB (30 microM) inhibited the ET-1-induced constriction by approximately 53% and approximately 60%, respectively, both in the continued presence of nifedipine and in Ca++-free physiological salt solution. The Ca++ ionophore A23187 (10 microM) also evoked a sustained constriction of pulmonary arteries. Surprisingly, the A23187-induced constriction was also inhibited in a reversible and concentration-dependent manner by niflumic acid (IC50: 18.0 microM) and NPPB (IC50: 8.8 microM), but not by DIDS (constriction is independent of Cl- channel blockade. One possibility is that these compounds may block the Ca++-dependent contractile processes.

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

    Science.gov (United States)

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

    2010-04-01

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

  1. Aortic Remodeling Following Transverse Aortic Constriction in Mice is Attenuated with AT1 Receptor Blockade

    Science.gov (United States)

    Kuang, Shao-Qing; Geng, Liang; Prakash, Siddharth K.; Cao, Jiu-Mei; Guo, Steven; Villamizar, Carlos; Kwartler, Callie S.; Ju, Xiaoxi; Brasier, Allan R.; Milewicz, Dianna M.

    2016-01-01

    Objective Although hypertension is the most common risk factor for thoracic aortic diseases, it is not understood how increased pressures on the ascending aorta lead to aortic aneurysms. We investigated the role of Ang II type 1 (AT1) receptor activation in ascending aortic remodeling in response to increased biomechanical forces using a transverse aortic constriction (TAC) mouse model. Approach and Results Two weeks after TAC, the increased biomechanical pressures led to ascending aortic dilatation, aortic wall thickening and medial hypertrophy. Significant adventitial hyperplasia and inflammatory responses in TAC ascending aortas were accompanied by increased adventitial collagen, elevated inflammatory and proliferative markers, and increased cell density due to accumulation of myofibroblasts and macrophages. Treatment with losartan significantly blocked TAC induced vascular inflammation and macrophage accumulation. However, losartan only partially prevented TAC induced adventitial hyperplasia, collagen accumulation and ascending aortic dilatation. Increased Tgfb2 expression and phosphorylated-Smad2 staining in the medial layer of TAC ascending aortas was effectively blocked with losartan. In contrast, the increased Tgfb1 expression and adventitial phospho-Smad2 staining were only partially attenuated by losartan. In addition, losartan significantly blocked Erk activation and ROS production in the TAC ascending aorta. Conclusions Inhibition of the AT1 receptor using losartan significantly attenuated the vascular remodeling associated with TAC but did not completely block the increased TGF- β1 expression, adventitial Smad2 signaling and collagen accumulation. These results help to delineate the aortic TGF-β signaling that is dependent and independent of the AT1 receptor after TAC. PMID:23868934

  2. Disorders in melanopsin effect of pupil constriction as a risk factor causing eye diseases

    Directory of Open Access Journals (Sweden)

    V.A. Kaptsov

    2017-03-01

    Full Text Available Risks of eye damage and eyesight deterioration to a great extent depend on how efficient a biomechanical eye system is under energy-saving lighting conditions. The system's efficiency is determined by its adequacy in managing pupils and ciliary muscle. We analyzed mathematical models describing changes in pupil's diameter which were determined by light-technical parameters of illumination environment (luminance level and brightness. We highlighted the importance of ganglionic cells and the role they play in managing pupil's diameter (miosis when they are exposed to blue light within 480 nm spectrum. Basing on the assessment of a pupil's constriction under exposure to various light stimuli (blue, red, and green ones we worked out a melanopsin effect concept of a pupil's retention at miosis and showed that it could be a diagnostic sign of some diseases (age-related direct retinopathy, pancreatic diabetes under exposure to a blue light impulse with a certain wave length. Under exposure to blue light within 480 nm spectrum ganglionic cells form a managing signal for a sphincter muscle of a pupil and ciliary muscle which provides accommodation (as per Helmholtz and regulates aqueous humor flow in ciliary channel. All modern energy-saving light sources have a low energy level at wave length equal to 480 nm due to gap in their spectrum in comparison with sunlight spectrum with the same light temperature and luminance level. Inadequate management of pupil's diameter under artificial lighting conditions leads to melanopsin effect disorders and causes disharmony in managing aqueous humor outflow. All the above-stated factors under long-term visual load cause eye diseases risks in modern illumination environment. We detected that contemporary mathematic models describing pupil's diameter fluctuations needed to be refined allowing for new knowledge on functional peculiarities of retina cells and energy-saving light sources spectrum.

  3. Effect of Pulsed Radiofrequency on Rat Sciatic Nerve Chronic Constriction Injury: A Preliminary Study

    Directory of Open Access Journals (Sweden)

    Duo-Yi Li

    2015-01-01

    Full Text Available Background: Pulsed radiofrequency (PRF application to the dorsal root ganglia can reduce neuropathic pain (NP in animal models, but the effect of PRF on damaged peripheral nerves has not been examined. We investigated the effect of PRF to the rat sciatic nerve (SN on pain-related behavior and SN ultrastructure following chronic constriction injury (CCI. Methods: The analgesic effect was measured by hindpaw mechanical withdrawal threshold (MWT and thermal withdrawal latency (TWL. Twenty rats with NP induced by ligating the common SN were then randomly divided into a PRF treatment group and a sham group. The contralateral SN served as a control. The MWT and TWL were determined again 2, 4, 6, 8, 10, 12, and 14 days after the PRF or sham treatment. On day 14, ipsilateral and contralateral common SNs were excised and examined by electron microscopy. Results: Ipsilateral MWT was significantly reduced and TWL significantly shorter compared to the contralateral side 14 days after CCI (both P = 0.000. In the PRF group, MWT was significantly higher and TWL significantly longer 14 days after the PRF treatment compared to before PRF treatment (both P = 0.000, while no such difference was observed in the sham group (P > 0.05. Electron microscopy revealed extensive demyelination and collagen fiber formation in the ipsilateral SN of sham-treated rats but sparse demyelination and some nerve fiber regrowth in the PRF treatment group. Conclusions: Hyperalgesia is relieved, and ultrastructural damage ameliorated after direct PRF treatment to the SN in the CCI rat model of NP.

  4. Moringa oleifera Leaves Extract Attenuates Neuropathic Pain Induced by Chronic Constriction Injury

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    Jurairat Khongrum

    2012-01-01

    Full Text Available Problem statement: Neuropathic pain, a challenge of this decade, has been reported to be associated with the diversity conditions including diabetes. At present, there are no conventional analgesics that can effectively treat neuropathic pain with a satisfactory outcome. Due to the limitation of therapeutic efficacy, the searching for novel effective remedies in the management of neuropathic pain is required. Approach: Male Wistar rats, weighing 180-220 g were induced diabetes mellitus by Streptozotocin (STZ (single injection, 65 mg kg-1 BW, i.p. Diabetic rats were induced neuropathic pain by Constricting the right sciatic nerve (CCI at permanently. Then, all rats were administered the extract of M. oleifera leaves at doses of 100, 200 and 300 mg kg-1 BW once daily in a period of 21 days. The analgesic effect of the plant extract was evaluated using Von Frey filament and hot plate tests every 3 days after CCI throughout 21-day experimental period. In addition, at the end of the experiment, the alteration of oxidative damage markers including MDA level and the activities of SOD, CAT and GSH-PX in the injured sciatic nerve were also evaluated. Results: The current results showed that rats subjected to M.oleifera leaves extract at doses of 100 and 200 mg kg-1 BW significantly reversed the decreased withdrawal threshold intensity and withdrawal latency in Von Frey filament and hot plate tests respectively. In addition, rats subjected to the medium dose extract also reversed the decreased activities of SOD and GSH-Px and the elevation of MDA level in the injured nerve. Taken all together, our data suggest that M. oleifera leaves extract can attenuate neuropathic pain in diabetic condition. The possible underlying mechanism may occur partly via the decreased oxidative stress. However, other mechanisms may also involve. Conclusion: Our results suggest that M. oleifera leaves may be the potential novel adjuvant therapy for neuropathic pain management.

  5. Pupil constriction can alter the accuracy of dark room provocative test

    Institute of Scientific and Technical Information of China (English)

    WANG Bing-song; WANG Ning-li; Nathan Cong-don; LEI Kun; Baskaran Mani

    2009-01-01

    Background Primary angle-closure glaucoma(PACG)is a major cause of visual morbidity in East Asia.Dark-room provocative test(DRPT)has been used to determine which narrow angles have the risk to develop angle closure.However,the accuracy of DRPT might be altered because that after emerging from the dark room,the configuration of the angle is affected by the light of the slit-lamp and the appositionally closed angle reopens.The aim of this study was to examine the pupillary diameter in different light conditions and use it as a parameter to assess the accuracy of dark-room provocative test.Methods Patients with suspected primary angle-closure glaucoma undergoing DRPT were recruited.The anterior chamber angle was examined by anterior segment optical coherence tomography under the following conditions:(1)in standard room illumination;(2)after short-term dark-adaptation and(3)after DRPT.Mean values of pupil size and numbers of appositionally closed angle under different conditions were compared.Results A total of 47 eyes of 47 patients were analyzed.The pupil size after DRPT was smaller than that after short-term dark-adaptation(P<0.001)and smaller than that in standard room illumination(P=0.026).The numbers of appositionally closed angles after short-term dark-adaptation were significantly larger than those after DRPT(P<0.001).There was no significant difference between the numbers of appositionally closed angles in standard room illumination and after DRPT(P=0.157).Conclusions Constriction of pupil size immediately after prolonged dark room provocative test may lead to change in the angle configuration,which may lead to false negative results.We suggest a modified protocol of recording intraocular pressure immediately after DRPT and performing gonioscopy following short-term dark adaptation to improve the accuracy of angle closure assessment.

  6. Effect of Pulsed Radiofrequency on Rat Sciatic Nerve Chronic Constriction Injury: A Preliminary Study

    Institute of Scientific and Technical Information of China (English)

    Duo-Yi Li; Lan Meng; Nan Ji; Fang Luo

    2015-01-01

    Background:Pulsed radiofrequency (PRF) application to the dorsal root ganglia can reduce neuropathic pain (NP) in animal models,but the effect of PRF on damaged peripheral nerves has not been examined.We investigated the effect of PRF to the rat sciatic nerve (SN) on pain-related behavior and SN ultrastructure following chronic constriction injury (CCI).Methods:The analgesic effect was measured by hindpaw mechanical withdrawal threshold (MWT) and thermal withdrawal latency (TWL).Twenty rats with NP induced by ligating the common SN were then randomly divided into a PRF treatment group and a sham group.The contralateral SN served as a control.The MWT and TWL were determined again 2,4,6,8,10,12,and 14 days after the PRF or sham treatment.On day 14,ipsilateral and contralateral common SNs were excised and examined by electron microscopy.Results:Ipsilateral MWT was significantly reduced and TWL significantly shorter compared to the contralateral side 14 days after CCI (both P =0.000).In the PRF group,MWT was significantly higher and TWL significantly longer 14 days after the PRF treatment compared to before PRF treatment (both P =0.000),while no such difference was observed in the sham group (P > 0.05).Electron microscopy revealed extensive demyelination and collagen fiber formation in the ipsilateral SN of sham-treated rats but sparse demyelination and some nerve fiber regrowth in the PRF treatment group.Conclusions:Hyperalgesia is relieved,and ultrastructural damage ameliorated after direct PRF treatment to the SN in the CCI rat model of NP.

  7. Flow structures and red blood cell dynamics in arteriole of dilated or constricted cross section.

    Science.gov (United States)

    Gambaruto, Alberto M

    2016-07-26

    Vessel with 'circular' or 'star-shaped' cross sections are studied, representing respectively dilated or constricted cases where endothelial cells smoothly line or bulge into the lumen. Computational haemodynamics simulations are carried out on idealised periodic arteriole-sized vessels, with red blood cell 'tube' hematocrit value=24%. A further simulation of a single red blood cell serves for comparison purposes. The bulk motion of the red blood cells reproduces well-known effects, including the presence of a cell-free layer and the apparent shear-thinning non-Newtonian rheology. The velocity flow field is analysed in a Lagrangian reference frame, relative to any given red blood cell, hence removing the bulk coaxial motion and highlighting instead the complex secondary flow patterns. An aggregate formation becomes apparent, continuously rearranging and dynamic, brought about by the inter-cellular fluid mechanics interactions and the deformability properties of the cells. The secondary flow field induces a vacillating radial migration of the red blood cells. At different radial locations, the red blood cells express different residence times, orientation and shape. The shear stresses exerted by the flow on the vessel wall are influenced by the motion of red blood cells, despite the presence of the cell-free layer. Spatial (and temporal) variations of wall shear stress patters are observed, especially for the 'circular' vessel. The 'star-shaped' vessel bears considerable stress at the protruding endothelial cell crests, where the stress vectors are coaxially aligned. The bulging endothelial cells hence regularise the transmission of stresses on the vessel wall.

  8. Dasatinib Attenuates Pressure Overload Induced Cardiac Fibrosis in a Murine Transverse Aortic Constriction Model.

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    Sundaravadivel Balasubramanian

    Full Text Available Reactive cardiac fibrosis resulting from chronic pressure overload (PO compromises ventricular function and contributes to congestive heart failure. We explored whether nonreceptor tyrosine kinases (NTKs play a key role in fibrosis by activating cardiac fibroblasts (CFb, and could potentially serve as a target to reduce PO-induced cardiac fibrosis. Our studies were carried out in PO mouse myocardium induced by transverse aortic constriction (TAC. Administration of a tyrosine kinase inhibitor, dasatinib, via an intraperitoneally implanted mini-osmotic pump at 0.44 mg/kg/day reduced PO-induced accumulation of extracellular matrix (ECM proteins and improved left ventricular geometry and function. Furthermore, dasatinib treatment inhibited NTK activation (primarily Pyk2 and Fak and reduced the level of FSP1 positive cells in the PO myocardium. In vitro studies using cultured mouse CFb showed that dasatinib treatment at 50 nM reduced: (i extracellular accumulation of both collagen and fibronectin, (ii both basal and PDGF-stimulated activation of Pyk2, (iii nuclear accumulation of Ki67, SKP2 and histone-H2B and (iv PDGF-stimulated CFb proliferation and migration. However, dasatinib did not affect cardiomyocyte morphologies in either the ventricular tissue after in vivo administration or in isolated cells after in vitro treatment. Mass spectrometric quantification of dasatinib in cultured cells indicated that the uptake of dasatinib by CFb was greater that that taken up by cardiomyocytes. Dasatinib treatment primarily suppressed PDGF but not insulin-stimulated signaling (Erk versus Akt activation in both CFb and cardiomyocytes. These data indicate that dasatinib treatment at lower doses than that used in chemotherapy has the capacity to reduce hypertrophy-associated fibrosis and improve ventricular function.

  9. Idiopathic erythermalgia: a congenital disorder.

    Science.gov (United States)

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

    1989-11-01

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

  10. Endocrine disruptors and congenital anomalies

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    Mônica Rittler

    2002-04-01

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

  11. Laboratory Diagnosis of Congenital Toxoplasmosis.

    Science.gov (United States)

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

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

  12. Congenital Diverticular Disease of the Entire Colon

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    A. Patel

    2013-01-01

    Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

  13. Bilateral population receptive fields in congenital hemihydranencephaly

    NARCIS (Netherlands)

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

    2016-01-01

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

  14. Congenital Plasmodium falciparum Malaria in Washington, DC.

    Science.gov (United States)

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

    2017-01-11

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

  15. Multiple congenital defects in a newborn foal

    Directory of Open Access Journals (Sweden)

    J.F. Silva

    2014-12-01

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

  16. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

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

    2010-01-01

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

  17. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

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

    2010-01-01

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

  18. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....

  19. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

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

    2010-01-01

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

  20. Mortality in adult congenital heart disease.

    NARCIS (Netherlands)

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

    2010-01-01

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

  1. Differences in the effects of turns and constrictions on the resistive response in current-biased superconducting wire after single photon absorption

    Science.gov (United States)

    Zotova, A. N.; Y Vodolazov, D.

    2013-07-01

    We study how turns and constrictions affect the resistive response of superconducting wire after instantaneous, localized heating, by modeling the absorption of a single photon by the wire. We find that the presence of constrictions favors the detection of photons with a range of energies whereas the presence of turns increases the ability to detect only relatively ‘low’ energy photons. The main reason is that in the case of a constriction the current density is increased over the whole length and width of the constriction while in the case of a turn the current density is enhanced only near the inner corner of the turn. This results in inhomogeneous Joule heating near the turn and worsens the conditions for the appearance of the normal domain at relatively small currents, where the ‘high’ energy photons could already create a normal domain in the straight part of the wire. We also find that the amplitude of the voltage pulse depends on the location at which the photon is absorbed, being smallest when the photon is absorbed near the turn and largest when the photon is absorbed near the constriction. This effect is due to the difference in the resistance of constrictions and turns in the normal state from the resistance of the rest of the wire.

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

    Science.gov (United States)

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

    1985-01-01

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

  3. Indications, Results and Mortality of Pulmonary Artery Banding Procedure: a Brief Review and Five- year Experiences

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    Hamid Hoseinikhah

    2016-05-01

    Full Text Available Background Pulmonary artery banding (PAB is a technique of palliative surgical therapy used by congenital heart surgeons as a staged approach to operative correction of congenital heart defects. Materials and Methods We report 5- year experiences from January 2011 to January 2016 of Imam Reza Hospital center (a tertiary referral hospital in Mashhad city, North East of Iran that consist of 50 patients with congenital heart disease with left to right shunt that pulmonary artery banding procedure was performed for them were studied. Results Age of patients (n=50 was 1to 9 months (mean=4.6 + 1.3. In this study, the most common disease that need to PAB procedure was Ventricular septal defect (VSD with twenty-eight patients (56%. Mean of extubation time (hour was 10.4 + 0.8 and mean of hospital stay (day was 13.3 + 2.4 respectively. Conclusion Although the number of pulmonary artery banding palliation surgery was decreased, but in selected group of congenital heart disease, this palliation to reduce over circulation of Pulmonary system, can use successfully with acceptable results and low mortality. We suggest pulmonary artery banding palliative surgery in these selected patients.

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

    Science.gov (United States)

    Pellerin, D

    1993-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

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

  6. AAV-mediated knock-down of HRC exacerbates transverse aorta constriction-induced heart failure.

    Directory of Open Access Journals (Sweden)

    Chang Sik Park

    Full Text Available Histidine-rich calcium binding protein (HRC is located in the lumen of sarcoplasmic reticulum (SR that binds to both triadin (TRN and SERCA affecting Ca(2+ cycling in the SR. Chronic overexpression of HRC that may disrupt intracellular Ca(2+ homeostasis is implicated in pathogenesis of cardiac hypertrophy. Ablation of HRC showed relatively normal phenotypes under basal condition, but exhibited a significantly increased susceptibility to isoproterenol-induced cardiac hypertrophy. In the present study, we characterized the functions of HRC related to Ca(2+ cycling and pathogenesis of cardiac hypertrophy using the in vitro siRNA- and the in vivo adeno-associated virus (AAV-mediated HRC knock-down (KD systems, respectively.AAV-mediated HRC-KD system was used with or without C57BL/6 mouse model of transverse aortic constriction-induced failing heart (TAC-FH to examine whether HRC-KD could enhance cardiac function in failing heart (FH. Initially we expected that HRC-KD could elicit cardiac functional recovery in failing heart (FH, since predesigned siRNA-mediated HRC-KD enhanced Ca(2+ cycling and increased activities of RyR2 and SERCA2 without change in SR Ca(2+ load in neonatal rat ventricular cells (NRVCs and HL-1 cells. However, AAV9-mediated HRC-KD in TAC-FH was associated with decreased fractional shortening and increased cardiac fibrosis compared with control. We found that phospho-RyR2, phospho-CaMKII, phospho-p38 MAPK, and phospho-PLB were significantly upregulated by HRC-KD in TAC-FH. A significantly increased level of cleaved caspase-3, a cardiac cell death marker was also found, consistent with the result of TUNEL assay.Increased Ca(2+ leak and cytosolic Ca(2+ concentration due to a partial KD of HRC could enhance activity of CaMKII and phosphorylation of p38 MAPK, causing the mitochondrial death pathway observed in TAC-FH. Our results present evidence that down-regulation of HRC could deteriorate cardiac function in TAC-FH through

  7. Neurotrophic factor changes in the rat thick skin following chronic constriction injury of the sciatic nerve

    Directory of Open Access Journals (Sweden)

    Peleshok Jennifer C

    2012-01-01

    Full Text Available Abstract Background Cutaneous peripheral neuropathies have been associated with changes of the sensory fiber innervation in the dermis and epidermis. These changes are mediated in part by the increase in local expression of trophic factors. Increase in target tissue nerve growth factor has been implicated in the promotion of peptidergic afferent and sympathetic efferent sprouting following nerve injury. The primary source of nerve growth factor is cells found in the target tissue, namely the skin. Recent evidence regarding the release and extracellular maturation of nerve growth factor indicate that it is produced in its precursor form and matured in the extracellular space. It is our hypothesis that the precursor form of nerve growth factor should be detectable in those cell types producing it. To date, limitations in available immunohistochemical tools have restricted efforts in obtaining an accurate distribution of nerve growth factor in the skin of naïve animals and those with neuropathic pain lesions. It is the objective of this study to delineate the distribution of the precursor form of nerve growth factor to those cell types expressing it, as well as to describe its distribution with respect to those nerve fibers responsive to it. Results We observed a decrease in peptidergic fiber innervation at 1 week after the application of a chronic constriction injury (CCI to the sciatic nerve, followed by a recovery, correlating with TrkA protein levels. ProNGF expression in CCI animals was significantly higher than in sham-operated controls from 1-4 weeks post-CCI. ProNGF immunoreactivity was increased in mast cells at 1 week post-CCI and, at later time points, in keratinocytes. P75 expression within the dermis and epidermis was significantly higher in CCI-operated animals than in controls and these changes were localized to neuronal and non-neuronal cell populations using specific markers for each. Conclusions We describe proNGF expression by

  8. Effect of transverse aortic constriction on cardiac structure, function and gene expression in pregnant rats.

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    Nils Thomas Songstad

    Full Text Available BACKGROUND: There is an increased risk of heart failure and pulmonary edema in pregnancies complicated by hypertensive disorders. However, in a previous study we found that pregnancy protects against fibrosis and preserves angiogenesis in a rat model of angiotensin II induced cardiac hypertrophy. In this study we test the hypothesis that pregnancy protects against negative effects of increased afterload. METHODS: Pregnant (gestational day 5.5-8.5 and non-pregnant Wistar rats were randomized to transverse aortic constriction (TAC or sham surgery. After 14.2 ± 0.14 days echocardiography was performed. Aortic blood pressure and left ventricular (LV pressure-volume loops were obtained using a conductance catheter. LV collagen content and cardiomyocyte circumference were measured. Myocardial gene expression was assessed by real-time polymerase chain reaction. RESULTS: Heart weight was increased by TAC (p<0.001 but not by pregnancy. Cardiac myocyte circumference was larger in pregnant compared to non-pregnant rats independent of TAC (p = 0.01, however TAC per se did not affect this parameter. Collagen content in LV myocardium was not affected by pregnancy or TAC. TAC increased stroke work more in pregnant rats (34.1 ± 2.4 vs 17.5 ± 2.4 mmHg/mL, p<0.001 than in non-pregnant (28.2 ± 1.7 vs 20.9 ± 1.5 mmHg/mL, p = 0.06. However, it did not lead to overt heart failure in any group. In pregnant rats, α-MHC gene expression was reduced by TAC. Increased in the expression of β-MHC gene was higher in pregnant (5-fold compared to non-pregnant rats (2-fold after TAC (p = 0.001. Nine out of the 19 genes related to cardiac remodeling were affected by pregnancy independent of TAC. CONCLUSIONS: This study did not support the hypothesis that pregnancy is cardioprotective against the negative effects of increased afterload. Some differences in cardiac structure, function and gene expression between pregnant and non-pregnant rats following TAC indicated that

  9. Stretch Band Exercise Program

    Science.gov (United States)

    Skirka, Nicholas; Hume, Donald

    2007-01-01

    This article discusses how to use stretch bands for improving total body fitness and quality of life. A stretch band exercise program offers a versatile and inexpensive option to motivate participants to exercise. The authors suggest practical exercises that can be used in physical education to improve or maintain muscular strength and endurance,…

  10. ZEBRAFISH CHROMOSOME-BANDING

    NARCIS (Netherlands)

    PIJNACKER, LP; FERWERDA, MA

    1995-01-01

    Banding techniques were carried out on metaphase chromosomes of zebrafish (Danio rerio) embryos. The karyotypes with the longest chromosomes consist of 12 metacentrics, 26 submetacentrics, and 12 subtelocentrics (2n = 50). All centromeres are C-band positive. Eight chromosomes have a pericentric C-b

  11. Angiographic analysis of congenital mitral stenosis

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-09-15

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

  12. Effect of Outflow Tract Banding on Embryonic Cardiac Hemodynamics

    Directory of Open Access Journals (Sweden)

    Venkat Keshav Chivukula

    2015-12-01

    Full Text Available We analyzed heart wall motion and blood flow dynamics in chicken embryos using in vivo optical coherence tomography (OCT imaging and computational fluid dynamics (CFD embryo-specific modeling. We focused on the heart outflow tract (OFT region of day 3 embryos, and compared normal (control conditions to conditions after performing an OFT banding intervention, which alters hemodynamics in the embryonic heart and vasculature. We found that hemodynamics and cardiac wall motion in the OFT are affected by banding in ways that might not be intuitive a priori. In addition to the expected increase in ventricular blood pressure, and increase blood flow velocity and, thus, wall shear stress (WSS at the band site, the characteristic peristaltic-like motion of the OFT was altered, further affecting flow and WSS. Myocardial contractility, however, was affected only close to the band site due to the physical restriction on wall motion imposed by the band. WSS were heterogeneously distributed in both normal and banded OFTs. Our results show how banding affects cardiac mechanics and can lead, in the future, to a better understanding of mechanisms by which altered blood flow conditions affect cardiac development leading to congenital heart disease.

  13. Progressive Band Selection

    Science.gov (United States)

    Fisher, Kevin; Chang, Chein-I

    2009-01-01

    Progressive band selection (PBS) reduces spectral redundancy without significant loss of information, thereby reducing hyperspectral image data volume and processing time. Used onboard a spacecraft, it can also reduce image downlink time. PBS prioritizes an image's spectral bands according to priority scores that measure their significance to a specific application. Then it uses one of three methods to select an appropriate number of the most useful bands. Key challenges for PBS include selecting an appropriate criterion to generate band priority scores, and determining how many bands should be retained in the reduced image. The image's Virtual Dimensionality (VD), once computed, is a reasonable estimate of the latter. We describe the major design details of PBS and test PBS in a land classification experiment.

  14. Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients.

    Science.gov (United States)

    Melillo, Paolo; Pecchia, Leandro; Testa, Francesco; Rossi, Settimio; Bennett, Jean; Simonelli, Francesca

    2012-07-19

    Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA). In this paper, we describe detailed methods of pupillometric analysis and a case study on three Italian patients affected by Leber Congenital Amaurosis (LCA) involved in a gene therapy clinical trial at two follow-up time-points: 1 year and 3 years after therapy administration. Pupillary light reflexes (PLR) were measured in patients who had received a unilateral subretinal injection in a clinical gene therapy trial. Pupil images were recorded simultaneously in both eyes with a commercial pupillometer and related software. A program was generated with MATLAB software in order to enable enhanced pupil detection with revision of the acquired images (correcting aberrations due to the inability of these severely visually impaired patients to fixate), and computation of the pupillometric parameters for each stimulus. Pupil detection was performed through Hough Transform and a non-parametric paired statistical test was adopted for comparison. The developed program provided correct pupil detection also for frames in which the pupil is not totally visible. Moreover, it provided an automatic computation of the pupillometric parameters for each stimulus and enabled semi-automatic revision of computerized detection, eliminating the need for the user to manually check frame by frame. With reference to the case study, the amplitude of pupillary constriction and the constriction velocity were increased in the right (treated eye) compared to the left (untreated) eye at both follow-up time-points, showing stability of the improved PLR in the treated eye. Our method

  15. Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients

    Directory of Open Access Journals (Sweden)

    Melillo Paolo

    2012-07-01

    Full Text Available Abstract Background Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA. In this paper, we describe detailed methods of pupillometric analysis and a case study on three Italian patients affected by Leber Congenital Amaurosis (LCA involved in a gene therapy clinical trial at two follow-up time-points: 1 year and 3 years after therapy administration. Methods Pupillary light reflexes (PLR were measured in patients who had received a unilateral subretinal injection in a clinical gene therapy trial. Pupil images were recorded simultaneously in both eyes with a commercial pupillometer and related software. A program was generated with MATLAB software in order to enable enhanced pupil detection with revision of the acquired images (correcting aberrations due to the inability of these severely visually impaired patients to fixate, and computation of the pupillometric parameters for each stimulus. Pupil detection was performed through Hough Transform and a non-parametric paired statistical test was adopted for comparison. Results The developed program provided correct pupil detection also for frames in which the pupil is not totally visible. Moreover, it provided an automatic computation of the pupillometric parameters for each stimulus and enabled semi-automatic revision of computerized detection, eliminating the need for the user to manually check frame by frame. With reference to the case study, the amplitude of pupillary constriction and the constriction velocity were increased in the right (treated eye compared to the left (untreated eye at both follow-up time-points, showing stability of

  16. Comparison of the effects of curcumin, tramadol and surgical treatments on neuropathic pain induced by chronic constriction injury in rat.

    Science.gov (United States)

    Ceyhan, Dilek; Kocman, Atacan Emre; Yildirim, Engin; Ozatik, Orhan; Aydin, Sule; Aydan, Kose

    2017-04-04

    Nerve entrapment syndromes are the most common causes of neuropathic pain. Surgical decompression is preferred method of treatment. The goal of the study was to compare the efficacy of curcumin, tramadol and chronic constriction release treatment (CCR), individually or together, in a rat model of sciatic nerve injury. Eighty male-rats were divided into eight study groups. Group 1 was the sham group. Group 2 was the control group with established chronic constriction injury (CCI). CCI was also established in Groups 3-8. Group 3 underwent chronic constriction release (CCR). Groups 4 and 5 received curcumin and tramadol. Groups 6 and 7 also received curcumin (100 mg kg-1 daily, oral) and tramadol (10 mg kg-1 daily, intraperitoneal, 14 days) after CCR, respectively. Combined curcumin-tramadol treatment was applied to Group 8. Behavioral tests (thermal hyperalgesia, dynamic plantar, cold plate test) were performed on days 0, 3, 7, 13, 17, and 21. Tissue tumor necrosis factor-α (TNF-α) and interleukin-10 (IL-10) levels were analyzed in the nerve and dorsal root ganglion (DRG) samples on day 21.days. Histopathologic examination was performed on nervous tissue and DRG. Tramadol-CCR and tramadol-curcumin significantly attenuated mechanical allodynia and thermal hyperalgesia. In CCI-CCR-tramadol treatment, TNF-α levels were found significantly lower in the sciatic nerve tissue and DRG, and IL-10 levels were significantly higher in the sciatic nerve tissue. CCI-CCR-tramadol treatment is highly effective in the symptomatic treatment of neuropathic pain. CCR-curcumin is associated with decreased degeneration and increased regeneration of the nerve tissue.

  17. A case report of bilateral Brodie bite in early mixed dentition using bonded constriction quad-helix appliance.

    Science.gov (United States)

    Nojima, Kunihiko; Takaku, Sakiko; Murase, Chiaki; Nishii, Yasushi; Sueishi, Kenji

    2011-01-01

    Brodie bite is a comparatively rare type of malocclusion found in primary and mixed dentition. It not only adversely affects chewing and muscle functions, but also impairs normal growth and development of the mandible. This report describes the therapeutic results of a patient with bilateral Brodie bite in early mixed dentition after using a bonded constriction quad-helix appliance. The patient, a boy aged 9 years and 2 months, first visited our hospital after occlusal abnormality in the molar region was detected at a local dental clinic. Case analysis resulted in a diagnosis of bilateral Brodie bite with slight mandibular retrognathism. Treatment objectives were to reduce the arch width of the maxillary dentition and expand the mandibular arch in order to establish and stabilize molar occlusion and to achieve a Class I molar relation and appropriate overbite and overjet. Treatment comprised covering the occlusal surface of the maxillary molars with resin and attaching a bonded constriction quad-helix appliance joined with a 0.040-inch quad-helix wire. A bi-helix appliance was also fixed to the mandibular dentition. Brodie bite visibly improved after 5 months. Cervical headgear was then fitted and the patient observed until eruption of the permanent dentition was complete. Class I molar relation was achieved after 2 years and 6 months, although spacing remained in the maxillary and mandibular dentitions. Treatment of bilateral Brodie bite in mixed dentition by means of a bonded constriction quad-helix appliance attached to the maxillary dentition enabled effective bite opening and reduction in the width of maxillary arch independent of the patient's cooperation, providing good therapeutic outcome in a short time period.

  18. Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy.

    Science.gov (United States)

    Sengupta, Partho P; Huang, Yen-Min; Bansal, Manish; Ashrafi, Ali; Fisher, Matt; Shameer, Khader; Gall, Walt; Dudley, Joel T

    2016-06-01

    Associating a patient's profile with the memories of prototypical patients built through previous repeat clinical experience is a key process in clinical judgment. We hypothesized that a similar process using a cognitive computing tool would be well suited for learning and recalling multidimensional attributes of speckle tracking echocardiography data sets derived from patients with known constrictive pericarditis and restrictive cardiomyopathy. Clinical and echocardiographic data of 50 patients with constrictive pericarditis and 44 with restrictive cardiomyopathy were used for developing an associative memory classifier-based machine-learning algorithm. The speckle tracking echocardiography data were normalized in reference to 47 controls with no structural heart disease, and the diagnostic area under the receiver operating characteristic curve of the associative memory classifier was evaluated for differentiating constrictive pericarditis from restrictive cardiomyopathy. Using only speckle tracking echocardiography variables, associative memory classifier achieved a diagnostic area under the curve of 89.2%, which improved to 96.2% with addition of 4 echocardiographic variables. In comparison, the area under the curve of early diastolic mitral annular velocity and left ventricular longitudinal strain were 82.1% and 63.7%, respectively. Furthermore, the associative memory classifier demonstrated greater accuracy and shorter learning curves than other machine-learning approaches, with accuracy asymptotically approaching 90% after a training fraction of 0.3 and remaining flat at higher training fractions. This study demonstrates feasibility of a cognitive machine-learning approach for learning and recalling patterns observed during echocardiographic evaluations. Incorporation of machine-learning algorithms in cardiac imaging may aid standardized assessments and support the quality of interpretations, particularly for novice readers with limited experience. © 2016

  19. Ex vivo investigation on the postoperative integrity of the apical constriction after the sole use of electronic working length determination.

    Science.gov (United States)

    Wolgin, Michael; Grundmann, Markus J; Tchorz, Jörg P; Frank, Wilhelm; Kielbassa, Andrej M

    2017-09-01

    The present study investigated the accuracy of root canal preparation with regard to the integrity of the apical constriction (AC) using two different working length determination approaches: (1) the electronic method of working length determination (EWLD), and (2) the radiologic "gold standard" method (GS). Simulation models were constructed by arranging extracted human teeth by means of silicon bolstered gingiva masks, along with a conductive medium (alginate). Electronic working length determination (group 1; EWLD) and radiologic plus initial electronic working length determination for posterior comparability (group 2; GS) preceded manual root canal preparation of teeth in both groups. Master cones were inserted according to working lengths obtained from the group specific method. Subsequently, root apices (n=36) were longitudinally sectioned using a diamond-coated bur. The distance between the achieved apical endpoint of the endodontic preparation and the apical constriction (AC) was measured using digital photography. Then, distances between radiologically identified apical endpoints and AC (GS-AC) were compared with the corresponding distances EWLD-AC. Moreover, the postoperative status of the AC was examined with regard to both preparation approaches. Differences between distances GS-AC and EWLD-AC were not statistically significant (p >0.401) (Mann-Whitney-U). Among EWLD samples, 83% of the master cones exhibiting tugback at final insertion terminated close to the apical constriction (±0.5 mm), and no impairment of the minor diameter's integrity was observed. The sole use of EWLD allowed for a high accuracy of measurements and granted precise preparation of the apical regions. Copyright © 2017 Elsevier Ltd. All rights reserved.

  20. The background of reduced face specificity of N170 in congenital prosopagnosia.

    Science.gov (United States)

    Németh, Kornél; Zimmer, Márta; Schweinberger, Stefan R; Vakli, Pál; Kovács, Gyula

    2014-01-01

    Congenital prosopagnosia is lifelong face-recognition impairment in the absence of evidence for structural brain damage. To study the neural correlates of congenital prosopagnosia, we measured the face-sensitive N170 component of the event-related potential in three members of the same family (father (56 y), son (25 y) and daughter (22 y)) and in age-matched neurotypical participants (young controls: n = 14; 24.5 y±2.1; old controls: n = 6; 57.3 y±5.4). To compare the face sensitivity of N170 in congenital prosopagnosic and neurotypical participants we measured the event-related potentials for faces and phase-scrambled random noise stimuli. In neurotypicals we found significantly larger N170 amplitude for faces compared to noise stimuli, reflecting normal early face processing. The congenital prosopagnosic participants, by contrast, showed reduced face sensitivity of the N170, and this was due to a larger than normal noise-elicited N170, rather than to a smaller face-elicited N170. Interestingly, single-trial analysis revealed that the lack of face sensitivity in congenital prosopagnosia is related to a larger oscillatory power and phase-locking in the theta frequency-band (4-7 Hz, 130-190 ms) as well as to a lower intertrial jitter of the response latency for the noise stimuli. Altogether, these results suggest that congenital prosopagnosia is due to the deficit of early, structural encoding steps of face perception in filtering between face and non-face stimuli.

  1. The background of reduced face specificity of N170 in congenital prosopagnosia.

    Directory of Open Access Journals (Sweden)

    Kornél Németh

    Full Text Available Congenital prosopagnosia is lifelong face-recognition impairment in the absence of evidence for structural brain damage. To study the neural correlates of congenital prosopagnosia, we measured the face-sensitive N170 component of the event-related potential in three members of the same family (father (56 y, son (25 y and daughter (22 y and in age-matched neurotypical participants (young controls: n = 14; 24.5 y±2.1; old controls: n = 6; 57.3 y±5.4. To compare the face sensitivity of N170 in congenital prosopagnosic and neurotypical participants we measured the event-related potentials for faces and phase-scrambled random noise stimuli. In neurotypicals we found significantly larger N170 amplitude for faces compared to noise stimuli, reflecting normal early face processing. The congenital prosopagnosic participants, by contrast, showed reduced face sensitivity of the N170, and this was due to a larger than normal noise-elicited N170, rather than to a smaller face-elicited N170. Interestingly, single-trial analysis revealed that the lack of face sensitivity in congenital prosopagnosia is related to a larger oscillatory power and phase-locking in the theta frequency-band (4-7 Hz, 130-190 ms as well as to a lower intertrial jitter of the response latency for the noise stimuli. Altogether, these results suggest that congenital prosopagnosia is due to the deficit of early, structural encoding steps of face perception in filtering between face and non-face stimuli.

  2. Unilateral straight hair and congenital horner syndrome.

    Science.gov (United States)

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

    2012-06-01

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

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

    Science.gov (United States)

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

    1988-02-01

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

  4. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

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

  5. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...... of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital...

  6. [Sex differences in congenital heart disease].

    Science.gov (United States)

    Aubry, P; Demian, H

    2016-12-01

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

  7. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

    Science.gov (United States)

    Mutesa, Leon; Jamar, Mauricette; Hellin, Anne Cecile; Pierquin, Genevieve; Bours, Vincent

    2012-09-01

    While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  8. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

    Directory of Open Access Journals (Sweden)

    Leon Mutesa

    2012-01-01

    Full Text Available While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  9. Congenital anomalies surveillance in Canada.

    Science.gov (United States)

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  10. Congenital duplication of the gallbladder.

    Science.gov (United States)

    Safioleas, Michael C; Papavassiliou, Vassilios G; Moulakakis, Konstantinos G; Angouras, Dimitrios C; Skandalakis, Panagiotis

    2006-03-01

    Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent a successful open cholecystectomy and common bile duct exploration. In the second case, two cystic formations in the place of gallbladder are demonstrated with ultrasound scan in a woman with acute cholecystitis. At surgery, two gallbladders were found. A brief review of epidemiology and anatomy of double gallbladder is included, along with a discussion of the difficulties in diagnosis and treatment of this condition.

  11. CONGENITAL SENSORY NEUROPATHY (HSAN II

    Directory of Open Access Journals (Sweden)

    Venkata Chalam

    2015-08-01

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

  12. Congenital epulis of the newborn

    Directory of Open Access Journals (Sweden)

    R Mahesh Kumar

    2015-01-01

    Full Text Available Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day.

  13. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  14. X-linked congenital retinoschisis.

    Science.gov (United States)

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  15. Maximum opening of the mouth by mouth prop during dental procedures increases the risk of upper airway constriction

    Directory of Open Access Journals (Sweden)

    Hiroshi Ito

    2010-05-01

    Full Text Available Hiroshi Ito1, Hiroyoshi Kawaai1, Shinya Yamazaki1, Yosuke Suzuki21Division of Systemic Management, Department of Oral Function, 2Division of Radiology and Diagnosis, Department of Medical Sciences, Ohu University, Post Graduate School of Dentistry, Koriyama City, Fukushima Prefecture, JapanAbstract: From a retrospective evaluation of data on accidents and deaths during dental procedures, it has been shown that several patients who refused dental treatment died of asphyxia during dental procedures. We speculated that forcible maximum opening of the mouth by using a mouth prop triggers this asphyxia by affecting the upper airway. Therefore, we assessed the morphological changes of the upper airway following maximal opening of the mouth. In 13 healthy adult volunteers, the sagittal diameter of the upper airway on lateral cephalogram was measured between the two conditions; closed mouth and maximally open mouth. The dyspnea in each state was evaluated by a visual analog scale. In one subject, a computed tomograph (CT was taken to assess the three-dimensional changes in the upper airway. A significant difference was detected in the mean sagittal diameter of the upper airway following use of the prop (closed mouth: 18.5 ± 3.8 mm, maximally open mouth: 10.4 ± 3.0 mm. All subjects indicated upper airway constriction and significant dyspnea when their mouth was maximally open. Although a CT scan indicated upper airway constriction when the mouth was maximally open, muscular compensation was admitted. Our results further indicate that the maximal opening of the mouth narrows the upper airway diameter and leads to dyspnea. The use of a prop for the patient who has communication problems or poor neuromuscular function can lead to asphyxia. When the prop is used for patient refusal in dentistry, the respiratory condition should be monitored strictly, and it should be kept in mind that the “sniffing position” is effective for avoiding upper airway

  16. Iliotibial band friction syndrome.

    Science.gov (United States)

    Lavine, Ronald

    2010-07-20

    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy.

  17. Amniotic Band Syndrome, Perinatal Hospice, and Palliative Care versus Active Management

    Directory of Open Access Journals (Sweden)

    Shadi Rezai

    2016-01-01

    Full Text Available Introduction. Amniotic band syndrome and sequence are a relatively rare condition in which congenital anomalies occur as a result of the adherence and entrapment of fetal parts with coarse fibrous bands of the amniotic membrane. A large percentage of reported cases have an atypical gestational history. The frequency of this obstetric complication is not affected by fetal gender, genetic abnormality, or prenatal infection. Case. A 21-year-old, G1P0 female parturient at 18 weeks and 5 days with a single intrauterine gestation during a routine ultrasound evaluation was noted to have amniotic band sequence. The pregnancy was subsequently complicated by preterm premature rupture of membranes with oligohydramnios, resulting in a surviving neonate scheduled for rehabilitative treatment. Conclusion. Amniotic band syndrome is an uncommon congenital anomaly resulting in multiple disfiguring and disabling manifestations. Several theories are proposed with most involving early rupture of the amnion and entanglement of fetal parts by amniotic bands. This syndrome can be manifested by development of multiple malformations, with the majority of the defects being limb abnormalities of a disorganized nature, as in the case we present. In the absence of a clear etiology of consequential congenital abnormalities, obstetric management guidelines should use shared decision models to focus on the quality of life for the offspring.

  18. Amniotic Band Syndrome, Perinatal Hospice, and Palliative Care versus Active Management

    Science.gov (United States)

    Faye, Justin; Chadee, Annika; Gottimukkala, Sri; Upadhyay, Ruchi; Lara, Carla; Rajegowda, Benamanahalli H.; Corwin, Andrew D.; Lala, Rasila V.; Vernon, Jessica; Nuritdinova, Dilfuza; Chasen, Stephen

    2016-01-01

    Introduction. Amniotic band syndrome and sequence are a relatively rare condition in which congenital anomalies occur as a result of the adherence and entrapment of fetal parts with coarse fibrous bands of the amniotic membrane. A large percentage of reported cases have an atypical gestational history. The frequency of this obstetric complication is not affected by fetal gender, genetic abnormality, or prenatal infection. Case. A 21-year-old, G1P0 female parturient at 18 weeks and 5 days with a single intrauterine gestation during a routine ultrasound evaluation was noted to have amniotic band sequence. The pregnancy was subsequently complicated by preterm premature rupture of membranes with oligohydramnios, resulting in a surviving neonate scheduled for rehabilitative treatment. Conclusion. Amniotic band syndrome is an uncommon congenital anomaly resulting in multiple disfiguring and disabling manifestations. Several theories are proposed with most involving early rupture of the amnion and entanglement of fetal parts by amniotic bands. This syndrome can be manifested by development of multiple malformations, with the majority of the defects being limb abnormalities of a disorganized nature, as in the case we present. In the absence of a clear etiology of consequential congenital abnormalities, obstetric management guidelines should use shared decision models to focus on the quality of life for the offspring. PMID:28025631

  19. Polymicrogyria and Congenital Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Grant S. Schulert

    2011-12-01

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

  20. Genetics Home Reference: congenital insensitivity to pain

    Science.gov (United States)

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  1. Congenital clinical malaria: Incidence, management and outcome ...

    African Journals Online (AJOL)

    ... were the admitted neonates to the emergency paediatric unit and the Special ... no mortality occurred in congenital clinical malaria, however, a diverse pattern of ... mothers of the importance of ante natal clinic visits for prescription of malaria ...

  2. Congenital asymmetric crying face: a case report

    Directory of Open Access Journals (Sweden)

    Semra Kara

    2011-12-01

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

  3. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude;

    2014-01-01

    with influenza. RESULTS: We detected statistically significant seasonality in prevalence of anomalies previously associated with influenza, but the conception peak was in June (2.4% excess). We also detected seasonality in congenital cataract (April conceptions, 27%), hip dislocation and/or dysplasia (April, 12......%), congenital hydronephrosis (July, 12%), urinary defects (July, 5%), and situs inversus (December, 36%), but not for nonchromosomal anomalies combined, chromosomal anomalies combined, or other anomalies analyzed. CONCLUSION: We have confirmed previously described seasonality for congenital cataract and hip......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...

  4. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... that is composed of pigment-producing cells called melanocytes . It is present from birth (congenital) or is ... is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and ...

  5. Stroke Recurrence in Congenital Heart Disease

    OpenAIRE

    J Gordon Millichap

    2012-01-01

    Researchers at the Hospital for Sick Children, Toronto, Canada identified 135 patients with congenital heart disease diagnosed with arterial ischemic stroke during 1992-2008 and registered in the Canadian Pediatric Stroke Registry-Toronto site.

  6. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

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

    2014-01-01

    : diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  7. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-03-01

    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  8. Congenital microgastria and hypoplastic upper limb anomalies.

    Science.gov (United States)

    Lueder, G T; Fitz-James, A; Dowton, S B

    1989-03-01

    Six cases of congenital microgastria associated with limb anomalies are reviewed. The microgastria-hypoplastic upper limb association may arise as a result of aberrant mesodermal development in the 5th embryonic week.

  9. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Congenital Heart Defects and Physical Activity Updated:Apr 19,2016 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...

  10. Case series: Congenital left ventricular diverticulum

    Directory of Open Access Journals (Sweden)

    Shah Dharita

    2010-01-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  11. Congenital oesophageal hiatal hernia in a pug

    OpenAIRE

    Keeley B; Puggioni A; Pratschke K

    2008-01-01

    Abstract Congenital sliding, oesophageal or type I hiatal hernia was diagnosed in a five-month-old pug puppy presented for evaluation of dyspnoea post feeding. The diagnosis was confirmed using plain film radiography. Surgical reduction of the hernia followed by plication of the oesophageal hiatus, oesophagopexy and left flank gastropexy permitted restoration of normal function. At 12 months of age, the dog was asymptomatic. This article describes the diagnosis and treatment of a congenital t...

  12. Classic congenital adrenal hyperplasia: A delayed presentation

    OpenAIRE

    Aziz Siddiqui, Saima; Soomro, Nargis; Ganatra, Ashraf

    2013-01-01

    Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, exten...

  13. Congenital malalignment of the big toe nail.

    Science.gov (United States)

    Wagner, Gunnar; Sachse, Michael Max

    2012-05-01

    Congenital malalignment of the big toe nail is based on a lateral deviation of the nail plate. This longitudinal axis shift is due to a deviation of the nail matrix, possibly caused by increased traction of the hypertrophic extensor tendon of the hallux. Congenital malalignment of the big toe nail is typically present at birth. Ingrown toenails and onychogryphosis are among the most common complications. Depending on the degree of deviation, conservative or surgical treatment may be recommended.

  14. Development and Congenital Anomalies of the Pancreas

    OpenAIRE

    Hiroyuki Tadokoro; Masaru Takase; Bunsei Nobukawa

    2011-01-01

    Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryo...

  15. Congenital diseases of the gastrointestinal tract.

    Science.gov (United States)

    Lentze, M

    2014-05-01

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

  16. Congenital Scaphoid Megalourethra: A Case Report

    Directory of Open Access Journals (Sweden)

    Kenji Obara

    2017-09-01

    Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

  17. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatram Reddy

    2015-08-01

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

  18. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

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

  19. ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

  20. Diet after gastric banding

    Science.gov (United States)

    ... helps people who have a gastric band stay satisfied longer. This includes things like salad with grilled ... ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get email updates Subscribe to RSS Follow ...

  1. Blood pressure is the major driving force for plaque formation in aortic-constricted ApoE-/- mice

    DEFF Research Database (Denmark)

    Johansson, Maria E.; Wickman, Anna; Skøtt, Ole

    2006-01-01

    OBJECTIVE: Using an aortic constriction model in mice, we studied whether the increase in pressure or the activation of the renin-angiotensin system (RAS) and its main receptors is the main driving force for plaque progression. METHODS: Male ApoE mice underwent sham surgery or placement of a supr......OBJECTIVE: Using an aortic constriction model in mice, we studied whether the increase in pressure or the activation of the renin-angiotensin system (RAS) and its main receptors is the main driving force for plaque progression. METHODS: Male ApoE mice underwent sham surgery or placement...... of a suprarenal silver clip around the aorta (AoC). Half the group was treated with the selective AT1 receptor antagonist losartan (30 mg/kg per day) for 4 weeks. RESULTS: Anesthetized mean arterial pressure (MAP) was increased in AoC mice compared to sham (106 +/- 3 versus 90 +/- 1 mmHg, P ....09 versus 0.07 +/- 0.01%, P distribution. Furthermore, we found no support...

  2. Cardiac tamponade due to low-volume effusive constrictive pericarditis in a patient with uncontrolled type II autoimmune polyglandular syndrome.

    Science.gov (United States)

    Palmer, William C; Kurklinsky, Andrew; Lane, Gary; Ussavarungsi, Kamonpun; Blackshear, Joseph L

    2014-03-01

    Type II autoimmune polyglandular syndrome (APS), a relatively common endocrine disorder, includes primary adrenal insufficiency coupled with type 1 diabetes mellitus and/or autoimmune primary hypothyroidism. Autoimmune serositis, an associated disease, may present as symptomatic pericardial effusion. We present a case of a 54-year old male with APS who developed pericarditis leading to cardiac tamponade with a subacute loculated effusion. After urgent pericardiocentesis intrapericardial pressure dropped to 0, while central venous pressures remain elevated, consistent with acute effusive constrictive pericarditis. Contrast computerized tomography confirmed increased pericardial contrast enhancement. The patient recovered after prolonged inotropic support and glucocorticoid administration. He re-accumulated the effusion 16 days later, requiring repeat pericardiocentesis. Effusive-constrictive pericarditis, an uncommon pericardial syndrome, is characterized by simultaneous pericardial inflammation and tamponade. Prior cases of APS associated with cardiac tamponade despite low volumes of effusion have been reported, albeit without good demonstration of hemodynamic findings. We report a case of APS with recurrent pericardial effusion due to pericarditis and marked hypotension with comprehensive clinical and hemodynamic assessment. These patients may require aggressive support with pericardiocentesis, inotropes, and hormone replacement therapy. They should be followed closely for recurrent tamponade.

  3. A rare chronic constrictive pericarditis with localized adherent visceral pericardium and normal parietal pericardium: a case report.

    Science.gov (United States)

    Ni, Qingqiang; Yun, Lin; Xu, Rui; Li, Guohua; Yao, Yucai; Li, Jiamin

    2016-09-01

    Classic constrictive pericarditis (CP) is characterized by fibrous scarring and adhesion of both the visceral pericardium and the parietal pericardium, which leads to restricted cardiac filling. However, diagnosing CP with normal thickness pericardium and without calcification is still a challenge. The predominant cause in the developed world is idiopathic or viral pericarditis followed by post-cardiac surgery and post-radiation. Tuberculosis still remains a common cause of CP in developing countries. In this report, we describe a rare case of idiopathic localized constrictive visceral pericardium with normal thickness of the parietal pericardium in a middle-aged man. The patient presented with unexplained right heart failure and echocardiography showed moderate bi-atrial enlargement which should be identified with the restrictive cardiomyopathy. After 10 months of conservative treatment, the progression of right heart failure was remaining. A pericardiectomy was performed and the patient recovered. This case serves as a reminder to consider CP in patients with unexplained right heart failure, so that timely investigation and treatment can be initiated.

  4. Influence of constriction, wall tension, smooth muscle activation and cellular deformation on rat resistance artery vasodilator reactivity.

    Science.gov (United States)

    Colton, Ilsley; Mandalà, Maurizio; Morton, Jude; Davidge, Sandra T; Osol, George

    2012-01-01

    This study investigated how vasoconstriction (tone), wall tension, smooth muscle activation, and vascular wall deformation influence resistance artery vasodilator reactivity. Resistance arteries, from two different regional circulations (splanchnic, uterine) and from pregnant and non-pregnant rats, were cannulated and pressurized, or mounted on a wire myograph under isometric conditions prior to being exposed to both endothelium-dependent (acetylcholine, ACh) and -independent (sodium nitroprusside, SNP) vasodilator agonists. A consistent pattern of reduced vasodilator sensitivity was noted as a function of extent of preconstriction for both agonists noted in pressurized arteries. A similar pattern regarding activation was noted in wire-mounted arteries in response to SNP but not ACh. Wall tension proved to be a major determinant of vascular smooth muscle vasodilator reactivity and its normalization reversed this pattern, as more constricted vessels were more sensitive to ACh relaxation without any change in SNP sensitivity, suggesting that endothelial deformation secondary to vasoconstriction augments its vasodilator output. To our knowledge, this is the first study to dissect out the complex interplay between biophysical forces impinging on VSM (pressure, wall tension), the ambient level of tone (vasoconstriction, smooth muscle cell activation), and consequences of cellular (particularly endothelial) deformation secondary to constriction in determining resistance artery vasodilatory reactivity.

  5. Rab1 interacts with GOLPH3 and controls Golgi structure and contractile ring constriction during cytokinesis in Drosophila melanogaster

    Science.gov (United States)

    Sechi, Stefano; Frappaolo, Anna; Fraschini, Roberta; Capalbo, Luisa; Gottardo, Marco; Belloni, Giorgio; Glover, David M.

    2017-01-01

    Cytokinesis requires a tight coordination between actomyosin ring constriction and new membrane addition along the ingressing cleavage furrow. However, the molecular mechanisms underlying vesicle trafficking to the equatorial site and how this process is coupled with the dynamics of the contractile apparatus are poorly defined. Here we provide evidence for the requirement of Rab1 during cleavage furrow ingression in cytokinesis. We demonstrate that the gene omelette (omt) encodes the Drosophila orthologue of human Rab1 and is required for successful cytokinesis in both mitotic and meiotic dividing cells of Drosophila melanogaster. We show that Rab1 protein colocalizes with the conserved oligomeric Golgi (COG) complex Cog7 subunit and the phosphatidylinositol 4-phosphate effector GOLPH3 at the Golgi stacks. Analysis by transmission electron microscopy and 3D-SIM super-resolution microscopy reveals loss of normal Golgi architecture in omt mutant spermatocytes indicating a role for Rab1 in Golgi formation. In dividing cells, Rab1 enables stabilization and contraction of actomyosin rings. We further demonstrate that GTP-bound Rab1 directly interacts with GOLPH3 and controls its localization at the Golgi and at the cleavage site. We propose that Rab1, by associating with GOLPH3, controls membrane trafficking and contractile ring constriction during cytokinesis. PMID:28100664

  6. PID Controller Design of Nonlinear System using a New Modified Particle Swarm Optimization with Time-Varying Constriction Coefficient

    Directory of Open Access Journals (Sweden)

    Alrijadjis .

    2014-12-01

    Full Text Available The proportional integral derivative (PID controllers have been widely used in most process control systems for a long time. However, it is a very important problem how to choose PID parameters, because these parameters give a great influence on the control performance. Especially, it is difficult to tune these parameters for nonlinear systems. In this paper, a new modified particle swarm optimization (PSO is presented to search for optimal PID parameters for such system. The proposed algorithm is to modify constriction coefficient which is nonlinearly decreased time-varying for improving the final accuracy and the convergence speed of PSO. To validate the control performance of the proposed method, a typical nonlinear system control, a continuous stirred tank reactor (CSTR process, is illustrated. The results testify that a new modified PSO algorithm can perform well in the nonlinear PID control system design in term of lesser overshoot, rise-time, settling-time, IAE and ISE. Keywords: PID controller, Particle Swarm Optimization (PSO,constriction factor, nonlinear system.

  7. Radiographic observation of congenital diaphragmatic hernia

    Energy Technology Data Exchange (ETDEWEB)

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

    1973-12-15

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

  8. [Aftereffects of congenital infections in infants].

    Science.gov (United States)

    Burdzenidze, E; Zhvania, M

    2006-12-01

    Congenital infections are among the most pressing health care problems. Congenital infections are not reason of congenital malformation and perinatal mortality only, but also pathologies that can be revealed during first year of life. Frequency for congenital viral infection displayed from birth varies between 23% and 92%. The aim of the study was the investigation of inherent infection consequences (citomegaloviral infection, herpes infection and chlamidia) in children in different age groups. Under our observation were 81 children with congenital infections. Among them 29 were with citomegaloviral infection, 17 with herpes infection; 15 chlamidia infection and 22 infections mix (citomegalovirus + herpes, citomegalovirus + chlamidia and chlamidia + herpes). In all observed children neurological simptomatic such as neuro-reflectory hyperexcitability syndrom, hypertension-hydrocephalic syndrom, musculary dystonia syndrom, hydrocephaly, retardation of psychomotor development etc. were present. After birth the worst prevalent are pathologies of cardiovascular system: functional cardiopathy, carditis, congenital heart disease (among them multivalvular disease), affection of hepatobilliar system, organs of vision and hearing etc are present also.

  9. Management of adolescents with congenital adrenal hyperplasia

    Science.gov (United States)

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

  10. HYBASE - HYperspectral BAnd SElection tool

    NARCIS (Netherlands)

    Schwering, P.B.W.; Bekman, H.H.P.T.; Seijen, H.H. van

    2008-01-01

    Band selection is essential in the design of multispectral sensor systems. This paper describes the TNO hyperspectral band selection tool HYBASE. It calculates the optimum band positions given the number of bands and the width of the spectral bands. HYBASE is used to calculate the minimum number of

  11. Glaucoma after Congenital Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Mahmoodreza Panahi Bazaz

    2014-05-01

    Full Text Available Purpose: To determine the incidence and risk factors associated with glaucoma following congenital cataract surgery (CCS in children under age of 15 Methods: This prospective cohort (since 2006 consisted of children less than 15 years of age who underwent cataract surgery with or without intraocular lens (IOL implantation. The role of the following factors on the development of glaucoma after CCS including age at surgery, gender, laterality of the cataract, IOL implantation, congenital ocular anomalies, intra- and postoperative complications, length of follow-up, central corneal thickness (CCT as well as the effect of the age of onset, time to development of glaucoma, and response to treatment were evaluated. Results: Overall, 161 eyes of 96 patients were included in this study of which 28 eyes developed glaucoma. Incidence of glaucoma was 17.4%. Mean±SD age at surgery was 9.3±6.9 (range, 1-24 months in glaucomatous and 40.4±41.1 (range, 1 m-13.6 year months in non-glaucomatous group (p<0.001. All glaucoma patients had the operation under two years of age. In group 1, 9 (60% and in group 2, 24 (30% patients were female (p=0.001. In group 1, 17 eyes (60.7% and in the group 2, 41 eyes (30.8% were aphakic (p=0.001. Mean time to diagnosis of glaucoma was 111.2 days (range 30-1200 days. Mean follow-up time was 3.1 years (range, 1-6 years. In 22 (78.6% eyes glaucoma was diagnosed within six months after surgery. Glaucoma was controlled with medications in 23 eyes (82% and with surgery in five eyes. Conclusion: In this study the incidence of glaucoma after CCS was 17.4% over a follow-up period of six years. Younger age at the time of lensectomy increases the risk of secondary glaucoma. IOL implantation may protect against glaucoma. Female gender was affected more than male.

  12. Estimation of current constriction losses via 3D tomography reconstructions in electrochemical devices: a case study of a solid oxide cell electrode/electrolyte interface

    DEFF Research Database (Denmark)

    Nielsen, Jimmi; Jørgensen, Peter Stanley

    2017-01-01

    In the present study, the methodology for accurate estimations of the current constriction resistance in solid state electrochemical devices via 3D tomography reconstructions is developed. The methodology is used to determine the current constriction resistances at the Ni:YSZ anode/YSZ electrolyte...... interface of a solid oxide fuel cell. The current constriction at this interface becomes increasingly important as thinner electrolyte layers are continuously being pursued for increased performance. Various possible scenarios have been illustrated on idealized geometries as a function of electrolyte...... thicknesses, from which it is clear, that for a given set of electrodes an optimal electrolyte thickness exist. Thus, increased performance by reduction of the electrolyte thickness is only feasible down to a certain thickness, after which, a lower performance is obtained on a further reduction...

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

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

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

  14. Outcomes of vaginal hysterectomy and constricting colporrhaphy with concurrent levator myorrhaphy and high perineorrhaphy in women older than 75 years of age

    Directory of Open Access Journals (Sweden)

    Töz E

    2015-06-01

    Full Text Available Emrah Töz, Aykut Özcan, Nesin Apaydin, İbrahim Uyar, Betül Kocakaya, Gülin Okay Department of Gynecology and Obstetrics, Tepecik Education and Research Hospital, İzmir, Turkey Objectives: We performed constricting anterior and posterior colporrhaphy, levator myorrhaphy, and high perineorrhaphy with concurrent hysterectomy, and investigated the intraoperative complications, and short-term outcomes of these constricting procedures in patients aged 75 years or older.Methods: We searched our hospital database for cases, between January 2011 and January 2014, of women aged over 75 years who underwent surgery for pelvic organ prolapse of stage 2 or higher, via vaginal hysterectomy, constricting anterior and posterior colporrhaphy, levator myorrhaphy, and high perineorrhaphy, with or without treatment of urinary incontinence. All volunteers were evaluated via pelvic examination using the pelvic organ prolapse quantification system, the modified Decision Regret Scale–Pelvic Floor Disorders form, the Satisfaction Decision Scale–Pelvic Floor Disorders form, and the Pelvic Floor Distress Inventory form.Results: Fifty-four patients were included in the study. The mean follow-up time was 24.4 months after constricting surgery (range: 8–44 months. There were four cases (7% of de novo urge incontinence (the symptoms resolved upon prescription of anticholinergic medication. Two patients developed de novo stress urinary incontinence after the procedure and were treated via transobturator sling surgery using Safyre T® polypropylene monofilament slings. No anatomical or subjective recurrence of prolapse was noted during the follow-up period. No patient required additional surgery for recurrence of prolapse.Conclusion: Constricting anterior and posterior colporrhaphy, levator myorrhaphy, and high perineorrhaphy with concurrent hysterectomy is a feasible, safe, and effective surgical option in elderly patients at low anesthesiological risk. The decision

  15. Congenital contractural arachnodactyly (Beals syndrome

    Directory of Open Access Journals (Sweden)

    Alanay Yasemin

    2006-06-01

    Full Text Available Abstract Congenital contractural arachnodactyly (Beals syndrome is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS, multiple joint contractures (especially elbow, knee and finger joints, and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.

  16. [Congenital muscular dystrophies in children].

    Science.gov (United States)

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  17. Congenital sacrococcygeal PNET and chemotherapy

    Directory of Open Access Journals (Sweden)

    Colin Patrick Hawkes

    2012-01-01

    Full Text Available We present the case of a congenital localised sacrococcygeal primitive neuroectodermal tumor treated aggressively with surgical resection and modified age-appropriate adjuvant chemotherapy. The conventional combination chemotherapy of vincristine, adriamycin, cyclophosphamide, ifosfamide and etoposide was modified to a regimen including vincristine, adriamicin, cyclophosphamide and actinomycin in order to minimise the predicted toxicity in this age group. Adjuvant "induction" chemotherapy commenced at 4 weeks of age and consisted of four cycles of vincristine, adriamycin and cyclophosphamide at 50%, 75%, 75% and 100% of recommended doses (vincristine 0.05 mg/kg, adriamycin 0.83 mg/kg daily × 2, cyclophosphamide 40 mg/kg at 3-weekly intervals. This was followed by four cycles of "maintenance" chemotherapy with vincristine (0.025 mg/kg, actinomycin (0.025 mg/kg and cyclophosphamide (36 mg/kg at full recommended doses. Cardioxane at a dose of 16.6 mg/kg was infused immediately prior to the adriamycin. Our patient is thriving at 19 months out from end of treatment.

  18. Congenital prosopagnosia: A case report

    Directory of Open Access Journals (Sweden)

    Rodrigo Rizek Schultz

    Full Text Available Abstract Prosopagnosia is a visual agnosia characterized by an inability to recognize previously known human faces and to learn new faces. The aim of this study was to present a forty-six year-old woman with congenital prosopagnosia, and to discuss the neural bases of perception and recognition of faces. The patients had a lifetime impairment in recognizing faces of family members, close friends, and even her own face in photos. She also had impairment in recognizing animals such as discriminating between cats and dogs. The patient's basic visual skills showed impairment in identifying and recognizing the animal form perception on the coding subtest of the WAIS-R, recognizing overlapping pictures (Luria, and in identifying silhouettes depicting animals and objects (VOSP. Unconventional tests using pictures evidenced impairment in her capacity to identify famous faces, facial emotions and animals. Her face perception abilities were preserved, but recognition could not take place. Therefore, it appears that the agnosia in this case best fits the group of categories termed "associative".

  19. Diagnosis of congenital fibrinogen disorders.

    Science.gov (United States)

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  20. Microtia and congenital aural atresia.

    Science.gov (United States)

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  1. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  2. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2014-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-01-01

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

  4. A clinico-pathological conference on constrictive pericarditis secondary to rheumatoid arthritis: a case report with expert commentary and review of the literature.

    Science.gov (United States)

    Jordan, Adam D; Khan, Muhammad E A; Hoey, Edward T; Rassl, Doris; Nashef, Samer A M

    2011-01-01

    Constrictive pericarditis is the commonest cardiac complication of rheumatoid arthritis (RA). Two percent of patients with RA develop significant clinical symptoms of pericarditis, which may not correlate with joint disease duration or severity. Symptoms are often vague and non-specific, which frequently delays the diagnosis and subsequent management. Surgical excision of the pericardium is the only definitive treatment option. We present the case of a 60 year-old lady with RA who presented with symptoms due to pericardial constriction and underwent radical pericardectomy.

  5. Photonic band gap materials

    Science.gov (United States)

    Cassagne, D.

    Photonic band gap materials Photonic band gap materials are periodic dielectric structures that control the propagation of electromagnetic waves. We describe the plane wave method, which allows to calculate the band structures of photonic crystals. By symmetry analysis and a perturbative approach, we predict the appearance of the low energy photonic band gaps of hexagonal structures. We propose new two-dimensional structures called graphite and boron nitride. Using a transfer matrix method, we calculate the transmission of the graphite structure and we show the crucial role of the coupling with external modes. We study the appearance of allowed modes in the photonic band gap by the introduction of localized defects in the periodicity. Finally, we discuss the properties of opals formed by self-organized silica microspheres, which are very promising for the fabrication of three-dimensional photonic crystals. Les matériaux à bandes interdites photoniques sont des structures diélectriques périodiques qui contrôlent la propagation des ondes électromagnétiques. Nous décrivons la méthode des ondes planes qui permet de calculer les structures de bandes des cristaux photoniques. Par une analyse de la symétrie et une approche perturbative, nous précisons les conditions d'existence des bandes interdites de basse énergie. Nous proposons de nouvelles structures bidimensionnelles appelées graphite et nitrure de bore. Grâce à une méthode de matrices de transfert, nous calculons la transmission de la structure graphite et nous mettons en évidence le rôle fondamental du couplage avec les modes extérieurs. Nous étudions l'apparition de modes permis dans la bande interdite grâce à l'introduction de défauts dans la périodicité. Enfin, nous discutons les propriétés des opales constituées de micro-billes de silice auto-organisées, qui sont très prometteuses pour la fabrication de cristaux photoniques tridimensionnels.

  6. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-06-15

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

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

    Science.gov (United States)

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

    2014-01-01

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

  8. Low-dose ouabain constricts small arteries from ouabain-hypertensive rats: implications for sustained elevation of vascular resistance

    Science.gov (United States)

    Zhang, Jin; Hamlyn, John M.; Karashima, Eiji; Raina, Hema; Mauban, Joseph R. H.; Izuka, Michelle; Berra-Romani, Roberto; Zulian, Alessandra; Wier, W. Gil; Blaustein, Mordecai P.

    2009-01-01

    Prolonged ouabain administration to normal rats causes sustained blood pressure (BP) elevation. This ouabain-induced hypertension (OH) has been attributed, in part, to the narrowing of third-order resistance arteries (∼320 μm internal diameter) as a result of collagen deposition in the artery media (see Ref. 6). Here we describe the structural and functional properties of fourth-order mesenteric small arteries from control and OH rats, including the effect of low-dose ouabain on myogenic tone in these arteries. Systolic BP in OH rats was 138 ± 3 versus 124 ± 4 mmHg in controls (P < 0.01). Pressurized (70 mmHg) control and OH arteries, with only a single layer of myocytes, both had ∼165-μm internal diameters and ∼20-μm wall thicknesses. Even after fixation, despite vasoconstriction, the diameters and wall thicknesses did not differ between control and OH fourth-order arteries, whereas in third-order arteries, both parameters were significantly smaller in OH than in controls. Myogenic reactivity was significantly augmented in OH fourth-order arteries. Nevertheless, phenylephrine- (1 μM) and high K+-induced vasoconstrictions and acetylcholine-induced vasodilation were comparable in control and OH arteries. Vasoconstrictions induced by 5 μM phenylephrine and by 10 mM caffeine in Ca2+-free media indicated that releasable sarcoplasmic reticulum Ca2+ stores were normal in OH arteries. Importantly, 100 nM ouabain constricted both control and OH arteries by ∼26 μm, indicating that this response was not downregulated in OH rats. This maximal ouabain-induced constriction corresponds to a ∼90% increase in resistance to flow in these small arteries; thus ouabain at EC50 of ∼0.66 nM should raise resistance by ∼35%. We conclude that dynamic constriction in response to circulating nanomolar ouabain in small arteries likely makes a major contribution to the increased vascular tone and BP in OH rats. PMID:19617413

  9. Caveolin-1: Functional Insights into Its Role in Muscarine- and Serotonin-Induced Smooth Muscle Constriction in Murine Airways

    Directory of Open Access Journals (Sweden)

    Maryam Keshavarz

    2017-05-01

    Full Text Available An increased bronchoconstrictor response is a hallmark in the progression of obstructive airway diseases. Acetylcholine and 5-hydroxytryptamine (5-HT, serotonin are the major bronchoconstrictors. There is evidence that both cholinergic and serotonergic signaling in airway smooth muscle (ASM involve caveolae. We hypothesized that caveolin-1 (cav-1, a structural protein of caveolae, plays an important regulatory role in ASM contraction. We analyzed airway contraction in different tracheal segments and extra- and intrapulmonary bronchi in cav-1 deficient (cav-1−/− and wild-type mice using organ bath recordings and videomorphometry of methyl-beta-cyclodextrin (MCD treated and non-treated precision-cut lung slices (PCLS. The presence of caveolae was investigated by electron microscopy. Receptor subtypes driving 5-HT-responses were studied by RT-PCR and videomorphometry after pharmacological inhibition with ketanserin. Cav-1 was present in tracheal epithelium and ASM. Muscarine induced a dose dependent contraction in all airway segments. A significantly higher Emax was observed in the caudal trachea. Although, caveolae abundancy was largely reduced in cav-1−/− mice, muscarine-induced airway contraction was maintained, albeit at diminished potency in the middle trachea, in the caudal trachea and in the bronchus without changes in the maximum efficacy. MCD-treatment of PLCS from cav-1−/− mice reduced cholinergic constriction by about 50%, indicating that cholesterol-rich plasma domains account for a substantial portion of the muscarine-induced bronchoconstriction. Notably, cav-1-deficiency fully abrogated 5-HT-induced contraction of extrapulmonary airways. In contrast, 5-HT-induced bronchoconstriction was fully maintained in cav-1-deficient intrapulmonary bronchi, but desensitization upon repetitive stimulation was enhanced. RT-PCR analysis revealed 5-HT1B, 5-HT2A, 5-HT6, and 5-HT7 receptors as the most prevalent subtypes in the airways. The

  10. Distribution Free Prediction Bands

    CERN Document Server

    Lei, Jing

    2012-01-01

    We study distribution free, nonparametric prediction bands with a special focus on their finite sample behavior. First we investigate and develop different notions of finite sample coverage guarantees. Then we give a new prediction band estimator by combining the idea of "conformal prediction" (Vovk et al. 2009) with nonparametric conditional density estimation. The proposed estimator, called COPS (Conformal Optimized Prediction Set), always has finite sample guarantee in a stronger sense than the original conformal prediction estimator. Under regularity conditions the estimator converges to an oracle band at a minimax optimal rate. A fast approximation algorithm and a data driven method for selecting the bandwidth are developed. The method is illustrated first in simulated data. Then, an application shows that the proposed method gives desirable prediction intervals in an automatic way, as compared to the classical linear regression modeling.

  11. Prothrombin Segovia: a new congenital abnormality of prothrombin.

    Science.gov (United States)

    Rocha, E; Paramo, J A; Bascones, C; Fisac, P R; Cuesta, B; Fernandez, J

    1986-05-01

    A family with a new congenital dysprothrombinemia is presented. The propositus is a 21-yr-old man who presented simultaneously with hemartrosis of the left knee and an extensive hematoma following a minor trauma. Prothrombin time and activated partial thromboplastin time were prolonged. Prothrombin activity was very low when measured by biological assay using physiological activators (7% by one-stage method and 20% by two-stage method) or a Russel's viper venom-cephalin mixture (23%), Notechis scutatus scutatus venom (15%) and Echis carinatus venom (17%); in contrast, the level was found to be borderline to normal using Taipan viper venom (64%) and normal by both staphylocoagulase and immunologic methods. Family studies revealed consanguinity between the propositus' mother and father and both presented a 50% reduced prothrombin level when physiological activators or Echis carinatus viper venom were used. A line of identity between normal and abnormal prothrombin was observed on immunodiffusion. The migration of the abnormal prothrombin was less anodic and was not changed by the addition of calcium. The patient's serum showed 3 bands in the bidimensional immunoelectrophoresis system, whereas normal serum showed only 2 bands. The term prothrombin Segovia is proposed to define this new prothrombin abnormality.

  12. Streeter Dysplasia, from Pelvic to Digits: A Case Report

    Directory of Open Access Journals (Sweden)

    Komang Agung Irianto

    2016-11-01

    Full Text Available Background: Streeter dysplasia is a term to describe fetal congenital syndrome which mainly characterized by constriction band on appendages, prenatal amputations of extremities, and acrosyndactyly. This syndrome has wide range of clinical manifestation between patients, as reflected by many other terms to describe this syndrome. Case: The author reported five cases of Streeter dysplasia with constriction band on different locations of the body, with a patient having a constriction band around pelvic and other multiple anomalies, patient with constriction around leg and caused acute limb ischemic, and several cases of acrosyndactyly around hand and foot. Result and Conclusion: Constriction band release surgery, as well as correction surgery for other abnormality was performed, either by direct closure or Z-plasty with satisfactory result in functional and aesthetic.

  13. Ultra wide band antennas

    CERN Document Server

    Begaud, Xavier

    2013-01-01

    Ultra Wide Band Technology (UWB) has reached a level of maturity that allows us to offer wireless links with either high or low data rates. These wireless links are frequently associated with a location capability for which ultimate accuracy varies with the inverse of the frequency bandwidth. Using time or frequency domain waveforms, they are currently the subject of international standards facilitating their commercial implementation. Drawing up a complete state of the art, Ultra Wide Band Antennas is aimed at students, engineers and researchers and presents a summary of internationally recog

  14. Banded transformer cores

    Science.gov (United States)

    Mclyman, C. W. T. (Inventor)

    1974-01-01

    A banded transformer core formed by positioning a pair of mated, similar core halves on a supporting pedestal. The core halves are encircled with a strap, selectively applying tension whereby a compressive force is applied to the core edge for reducing the innate air gap. A dc magnetic field is employed in supporting the core halves during initial phases of the banding operation, while an ac magnetic field subsequently is employed for detecting dimension changes occurring in the air gaps as tension is applied to the strap.

  15. Molecular genetics of congenital nuclear cataract.

    Science.gov (United States)

    Deng, Hao; Yuan, Lamei

    2014-02-01

    A cataract is defined as opacification of the normally transparent crystalline lens. Congenital cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one of the most common causes of visual impairment or blindness in children worldwide. Approximately 50% of all CC cases may have a genetic cause which is quite heterogeneous. CC occurs in a variety of morphologic configurations, including polar/subcapsular, nuclear, lamellar, sutural, cortical, membranous/capsular and complete. Nuclear cataract refers to the opacification limited to the embryonic and/or fetal nuclei of the lens. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains to be the most common cause. It can be inherited in one of the three patterns: autosomal dominant, autosomal recessive, or X-linked transmission. Autosomal dominant inheritance is the most frequent mode with high penetrance. There may be no obvious correlation between the genotype and phenotype of congenital nuclear cataract. Animal models have been established to study the pathogenesis of congenital nuclear cataract and to identify candidate genes. In this review, we highlight identified genetic mutations that account for congenital nuclear cataract. Our review may be helpful for genetic counseling and prenatal diagnosis.

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

    Science.gov (United States)

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

    2015-01-01

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

  17. Characterization of Live Birth with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  18. [Molecular-genetic aspects of congenital hypothyroidism].

    Science.gov (United States)

    Lacka, Katarzyna; Ogrodowicz, Agnieszka

    2004-01-01

    Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per 4800 in Poland. There are two main causes of congenital hypothyroidism: defects of thyroid development (about 90%), defects of thyroid hormones biosynthesis (~10%), and the more seldom occurring defects of the TBG proteins (thyroxine binding globulin) or resistance. syndrome to thyroid hormones. Defects of thyroid gland development include ectopia, hypoplasia or complete lack of the thyroid (athyreosis). These defects are caused by immunological, factors, drugs as well as genetic factors such as: TSH receptor gene or thyroid transcription factors: PAX 8. TTF l, TTF 2, Pit 1, Prop 1. Defects of thyroid hormones biosynthesis are inherited as autosomal recessive. There are 5 main defects of thyroid hormones biosynthesis: iodide transport (mutation of hNIS gene), iodine oxygenation (mutation of TPO, THOX, PDS genes), the iodination of the tyrosine of thyroglobulin and their conjunction (the mutation of TPO TG, PDS genes), the hydrolysis of the T3 and T4 as well as deiodination. Searching molecular-genetic basis of congenital hypothyroidism may improve its diagnostics, make possible to introduce genetic examination among patients with congenital hypothyroidism and their family members and may make gene therapy possible in the future.

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

    Institute of Scientific and Technical Information of China (English)

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

    2014-01-01

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

  20. Identification of CFTR Gene Mutations in Chinese Patients with Congenital Obstructive Azoospermia

    Institute of Scientific and Technical Information of China (English)

    曾国华; 吴开俊; 梅骅; 庄广伦

    2001-01-01

    Objective To analyze the frequency and hot spot of CFTR gene mutations in Chinese patients with congenital obstructive azoospermia Materials & Methods Mutations in CFTR exon 2,3,4,5,6a,8,10,11,12,13,15A 17b, 19A,20,21and 23 were detected. PCR-single strand conformation poly-morphism (SSCP) and direct sequencing were performed on 32 patients with congenital bilateral absence of the vas deferens (CBAVD), 17 patients with congenital unilateral absence of the vas deferens (CUAVD) and 50 normal Chinese.Results No CFTR gene mutations were detected in 50 normal Chinese. One CBAVD patient exhibited an abnormal band on SSCP for exon 10 of the CFTR gene and subsequent DNA sequencing showed a 3 bp deletion at position 1 653~ 1 655, which caused the deletion of a single amino acid, phenyalanine, in codon 508, i. e. , △F 508. A shift mutation was detected in another CBAVD patient in exon 2, a 1 bp deletion at position 225, 225 delC. One CUAVD patient exhibited an abnormal band on SSCP for exon 17 b of CFTR gene. Subsequent DNA sequencing showed a C-to-A transversion at position 3 295, which led to a predicted change of Leusine (codon 1 055,CUU) to Isoleucine (codon AUU), L1055I.Conclusion CFTR mutation could be detected in Chinese patients with congenital obstructive azoospermia. But no hot spots of mutations are discovered. 225 delC and L1055I are identified as two novel mutations, which are found only in Chinese.