WorldWideScience

Sample records for systemic congenital lymphangiomatosis

  1. Case report: Perinephric lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Gorantla Rajani

    2010-01-01

    Full Text Available Perirenal lymphangiomatosis is a rare benign malformation of the lymphatic system. We report here a case of bilateral perirenal and parapelvic involvement with a normal excretory collecting system.

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

    Directory of Open Access Journals (Sweden)

    Mariarita Romanucci

    2016-12-01

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

  3. Upfront radiotherapy for diffuse lymphangiomatosis in a child

    Directory of Open Access Journals (Sweden)

    Abhishek Purkayastha

    2016-01-01

    Full Text Available Lymphangiomatosis is an extremely rare multisystem disorder resulting from congenital malformations of lymphatic development mainly affecting the pulmonary and skeletal systems without a preset therapeutic approach. We hereby present a unique case of diffuse lymphangiomatosis in a 2-year-old male child who presented with massive right pleural effusion, ascites, right hydrocele, and lytic lesions in right hemipelvis, vertebrae, and femur. Biopsy from right thigh revealed lymphangiomatosis. The child was treated with upfront conformal radiotherapy (RT to the affected sites with fractionated doses of 18–20 Gy which he tolerated well. Post-therapy evaluation by imaging showed a significant response to radiation with excellent symptomatic relief. Presently, he is on follow-up for over 1 year with a Karnofsky performance status of 90% without any evidence of progression of the disease. The aim of reporting this case is to sensitize the medical fraternity about RT as an effective, noninvasive, definitive therapeutic modality for treating this uncommon disease.

  4. Fat containing chylous mesenteric lymphangiomatosis

    International Nuclear Information System (INIS)

    Kim, Soon Yong; Lim, Jae Hoon; Ko, Young Tae; Lee, Sun Wha; Oh, Soo Myung

    1984-01-01

    We have experienced an unusual case of mesenteric lymphangiomatosis in a 6-month-old male infant. Computed tomography (CT) disclosed fatty abdominal masses with attenuation coefficient being -5∼-28 Hounsfield units (HU). Laparotomy disclosed innumerable small and large chyle containing masses in the mesentery as well as mesenteric root. Pathologically these were confirmed to be cavernous and cystic lymphangiomatosis. One must bear in mind the possibility of lymphangioma in case of fat containing mesenteric mass on CT

  5. Imaging features of kaposiform lymphangiomatosis

    International Nuclear Information System (INIS)

    Goyal, Pradeep; Alomari, Ahmad I.; Shaikh, Raja; Chaudry, Gulraiz; Kozakewich, Harry P.; Perez-Atayde, Antonio R.; Trenor, Cameron C.; Fishman, Steven J.; Greene, Arin K.

    2016-01-01

    Kaposiform lymphangiomatosis is a rare, aggressive lymphatic disorder. The imaging and presenting features of kaposiform lymphangiomatosis can overlap with those of central conducting lymphatic anomaly and generalized lymphatic anomaly. To analyze the imaging findings of kaposiform lymphangiomatosis disorder and highlight features most suggestive of this diagnosis. We retrospectively identified and characterized 20 children and young adults with histopathological diagnosis of kaposiform lymphangiomatosis and radiologic imaging referred to the vascular anomalies center between 1995 and 2015. The median age at onset was 6.5 years (range 3 months to 27 years). The most common presenting features were respiratory compromise (dyspnea, cough, chest pain; 55.5%), swelling/mass (25%), bleeding (15%) and fracture (5%). The thoracic cavity was involved in all patients; all patients had mediastinal involvement followed by lung parenchymal disease (90%) and pleural (85%) and pericardial (50%) effusions. The most common extra-thoracic sites of disease were the retroperitoneum (80%), bone (60%), abdominal viscera (55%) and muscles (45%). There was characteristic enhancing and infiltrative soft-tissue thickening in the mediastinum and retroperitoneum extending along the lymphatic distribution. Kaposiform lymphangiomatosis has overlapping imaging features with central conducting lymphatic anomaly and generalized lymphatic anomaly. Presence of mediastinal or retroperitoneal enhancing and infiltrative soft-tissue disease along the lymphatic distribution, hemorrhagic effusions and moderate thrombocytopenia (50-100,000/μl) should favor diagnosis of kaposiform lymphangiomatosis. (orig.)

  6. Thoracic involvement in generalised lymphatic anomaly (or lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Francesca Luisi

    2016-06-01

    Full Text Available Generalised lymphatic anomaly (GLA, also known as lymphangiomatosis, is a rare disease caused by congenital abnormalities of lymphatic development. It usually presents in childhood but can also be diagnosed in adults. GLA encompasses a wide spectrum of clinical manifestations ranging from single-organ involvement to generalised disease. Given the rarity of the disease, most of the information regarding it comes from case reports. To date, no clinical trials concerning treatment are available. This review focuses on thoracic GLA and summarises possible diagnostic and therapeutic approaches.

  7. A case of diffuse pulmonary lymphangiomatosis with unilateral lung invasion.

    Science.gov (United States)

    Zhang, Jingxi; Jin, Hai; Wang, Yang; Bai, Chong; Han, Yiping

    2015-10-01

    Diffuse pulmonary lymphangiomatosis (DPL) is a rare interstitial lung disease characterized by intrathoracic lymphatic system abnormalities often with involvement of both lungs. Here, we report a 24-year-old male patient with DPL initially located in one lung, presenting only with transient fever. Resection of the right middle and lower lobes was performed for diagnosis and complete removal of the lesions. The pathologic features shown by diffuse smooth thickening of the interlobular septa, bronchovascular bundles, infiltration of patchy ground glass opacities and specific immunohistologic D2-40 and CD34 positive staining confirmed the diagnosis of DPL. The patient did not show signs of relapse during the 2-year follow-up period, which suggests that surgery is an effective and reasonable method for treating DPL with relatively localized lesions.

  8. Diffuse cystic peritoneal lymphangiomatosis. Long-term clinical, ultrasonographic and CT scan study in one case

    International Nuclear Information System (INIS)

    Berry, M.; Paillot, B.; Monneins, F.; Delafolie, A.; Guyet-Rousset, P.

    1987-01-01

    An adult male with episodic manifestations of abdominal lymphangiomatosis has been followed up over a 5 year period. This prolonged surveillance of clinical features combined with ultrasound and CT scan imaging has no doubt contributed to improved knowledge of diagnostic and physiopathologic factors of these rare lesions. The particular behavior of the case reported evokes discussion on the conventional surgical treatment of lymphangioma [fr

  9. Congenital tumors of the central nervous system

    International Nuclear Information System (INIS)

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

    2010-01-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

  10. 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

  11. CT diagnosis of congenital anomalies of the central nervous system

    International Nuclear Information System (INIS)

    Mori, Koreaki

    1980-01-01

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

  12. Importance of MRI in the diagnosis of vertebral involvement in generalized cystic lymphangiomatosis

    International Nuclear Information System (INIS)

    Renjen, Pooja; Kovanlikaya, Arzu; Brill, Paula W.; Narula, Navneet

    2014-01-01

    A 9-year-old boy presented with the sudden onset of pleuritic chest pain and on CT was found to have a large pleural effusion, mediastinal fluid, splenic lesions and multiple apparently sclerotic vertebral bodies. Subsequent MRI showed that those vertebral bodies that appeared sclerotic were in fact normal, and the vertebral bodies initially interpreted as normal had an abnormal T1 and T2 hyperintense signal on MRI and were relatively lucent on CT. MRI also demonstrated abnormal heterogeneous T2 hyperintense paraspinal tissue and several multicystic soft tissue masses. Biopsy of two adjacent vertebral bodies, one relatively sclerotic and one lucent, demonstrated findings of bony remodeling without a specific diagnosis. Biopsy of an infiltrative mediastinal mass confirmed the diagnosis of generalized cystic lymphangiomatosis. MRI should be included in the assessment of vertebral involvement in this condition because CT and biopsy findings may be nonspecific. (orig.)

  13. Congenital malformation of the systemic heart of Sepia officinalis l ...

    African Journals Online (AJOL)

    Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

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

    Science.gov (United States)

    Moore, Jeremy P; Aboulhosn, Jamil A

    2017-06-01

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

  15. Echography of congenital malformations of the central nervous system

    International Nuclear Information System (INIS)

    Toirac Romani, Carlos Andres; Salmon Cruzata, Acelia; Musle Acosta, Mirelvis; Rosales Fargie, Yamile; Dosouto Infante, Vivian

    2010-01-01

    A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid

  16. [Clinical analysis of 234 cases with congenital malformations of respiratory system].

    Science.gov (United States)

    Zhang, Wei-xi; Zhang, Hai-lin; Li, Chang-chong; Luo, Yun-chun; Cheng, Jian-min; Huang, Lei; Bai, Guang-hui

    2009-06-01

    To explore clinical characteristics, radiographic findings and diagnostic methods of patients with congenital malformations of respiratory system for enhancing the diagnosis of congenital malformations of respiratory system in children. Totally 234 patients with congenital malformations of respiratory system were chosen from the inpatient department of Yuying Children's Hospital Affiliated to Wenzhou Medical College from July 2003 to June 2008. The clinical presentations and radiographic findings of these children were analyzed. Of the 234 patients with congenital malformations of respiratory system, the age at diagnosis was between the first day and 14 years of age, mean age was 1.12 years. The main symptoms were persistent laryngeal stridor, recurrent wheezing, recurrent respiratory tract infections and dyspnea. Through the use of chest X-ray, spiral CT 3D reconstructions, fiberoptic bronchoscopy and other laboratory techniques, 213 cases were diagnosed as having single malformation and 21 cases were found to have multiple malformations. Of the 213 cases with single malformation, 97 cases had laryngeal malformation (congenital laryngeal stridor in 90 cases, congenital laryngeal webs in 5 cases and congenital laryngeal cyst in 2 cases), 35 cases had tracheal-bronchial malformation (congenital tracheobronchial stenosis in 17 cases, congenital abnormal bronchial origin in 7 cases, tracheobronchomalacia in 10 cases and tracheoesophageal fistula in 1 case), 43 cases had lung malformation (pulmonary sequestration in 5 cases, congenital lung cysts in 22 cases, congenital lobar emphysema in 1 case, agenesis of lung and hypoplasia of lung in 8 cases and congenital cystic adenomatoid malformation in 7 cases), 38 cases had diaphragm malformation, 28 cases had congenital tracheal-bronchial stenosis as confirmed by spiral CT 3D reconstructions and fiberoptic bronchoscopy. Ten cases with congenital abnormal bronchial origin were diagnosed with spiral CT 3D reconstructions

  17. Congenital and acquired mitochondrial disorders of the central nervous system

    Directory of Open Access Journals (Sweden)

    V. V. Nikitina

    2014-01-01

    Full Text Available Clinical presentations of disorders of the nervous system manifest in young and middle-aged patients with congenital and acquired mitochondrial dysfunctions and cognitive disorders manifest in patients with mitochondrial diseases more often. Nowadays the effective methods of initial diagnosing of these conditions are neurological and neuropsychological examination of patients, using of biochemical markers of mitochondrial diseases: the indices of lactate, total homocysteine in plasma and liquor. Neuro-visual study (Magnetic resonance imaging of the brain, MR spectroscopy, tractography, diffusion-weighted magnetic resonance imaging of the brain, mitochondrial DNA typing is actually used for the differential diagnosing of mitochondrial diseases with other disorders that are accompanied by demyelinating disorders.

  18. 76 FR 66006 - Revised Medical Criteria for Evaluating Congenital Disorders That Affect Multiple Body Systems

    Science.gov (United States)

    2011-10-25

    ... catastrophic congenital disorders, such as anencephaly, cyclopia, chromosome 13 trisomy (Patau syndrome or... existence of non-mosaic Down syndrome and other congenital disorders that affect multiple body systems under... and childhood listing 110.06 for non-mosaic Down syndrome; and Make editorial changes in childhood...

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

    Science.gov (United States)

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

    2017-10-09

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

  20. Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

    NARCIS (Netherlands)

    Leyten, Q. H.; Barth, P. G.; Gabreëls, F. J.; Renkawek, K.; Renier, W. O.; Gabreëls-Festen, A. A.; ter Laak, H. J.; Smits, M. G.

    1995-01-01

    Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by

  1. Case complexity scores in congenital heart surgery: a comparative study of the Aristotle Basic Complexity score and the Risk Adjustment in Congenital Heart Surgery (RACHS-1) system.

    Science.gov (United States)

    Al-Radi, Osman O; Harrell, Frank E; Caldarone, Christopher A; McCrindle, Brian W; Jacobs, Jeffrey P; Williams, M Gail; Van Arsdell, Glen S; Williams, William G

    2007-04-01

    The Aristotle Basic Complexity score and the Risk Adjustment in Congenital Heart Surgery system were developed by consensus to compare outcomes of congenital cardiac surgery. We compared the predictive value of the 2 systems. Of all index congenital cardiac operations at our institution from 1982 to 2004 (n = 13,675), we were able to assign an Aristotle Basic Complexity score, a Risk Adjustment in Congenital Heart Surgery score, and both scores to 13,138 (96%), 11,533 (84%), and 11,438 (84%) operations, respectively. Models of in-hospital mortality and length of stay were generated for Aristotle Basic Complexity and Risk Adjustment in Congenital Heart Surgery using an identical data set in which both Aristotle Basic Complexity and Risk Adjustment in Congenital Heart Surgery scores were assigned. The likelihood ratio test for nested models and paired concordance statistics were used. After adjustment for year of operation, the odds ratios for Aristotle Basic Complexity score 3 versus 6, 9 versus 6, 12 versus 6, and 15 versus 6 were 0.29, 2.22, 7.62, and 26.54 (P Aristotle Basic Complexity (likelihood ratio chi2 = 162, P Aristotle Basic Complexity contributed much less predictive value over Risk Adjustment in Congenital Heart Surgery (likelihood ratio chi2 = 13.4, P = .009). Neither system fully adjusted for the child's age. The Risk Adjustment in Congenital Heart Surgery scores were more concordant with length of stay compared with Aristotle Basic Complexity scores (P Aristotle Basic Complexity. The use of Aristotle Basic Complexity or Risk Adjustment in Congenital Heart Surgery as risk stratification and trending tools to monitor outcomes over time and to guide risk-adjusted comparisons may be valuable.

  2. Lymphangiomatosis of the sigmoid colon - a rare cause of lower gastrointestinal bleeding: A case report and review of the literature

    Science.gov (United States)

    Lu, Guifang; Li, Hongxia; Li, Yuanyuan

    2017-01-01

    The present study reports the case of a 79-year-old Chinese man who presented to The First Affiliated Hospital of Xi'an Jiaotong University (Xi'an, China) for the treatment of lower gastrointestinal bleeding. Multiple cystic masses in the sigmoid colon were observed with colonoscopy, and through endoscopic ultrasound (EUS), these cystic masses were confirmed to be echo-free and to exhibit septal walls in the submucosal layer; in consequence, lymphangiomatosis of the sigmoid colon was diagnosed. Considering the repeated bleeding, laparoscopy-assisted partial sigmoid colon resection was performed. The excised specimens were multiple vesicular and soft masses of ~1 cm in diameter, which were located in the submucosal layer and were surrounded by flat endothelial cells. Immunohistochemistry revealed that the specimens were positive for the specific lymphatic endothelial marker D2-40. The pathological diagnosis was consistent with the EUS findings. In the 2-year follow-up after the operation, no bleeding or other complications were noticed. PMID:28123564

  3. Automatic postural response systems in individuals with congenital total blindness.

    Science.gov (United States)

    Nakata, H; Yabe, K

    2001-07-01

    This study examined the effects of the absence of vision from birth on automatic postural responses to platform displacements during stance. Postural responses were induced by producing randomly four types of perturbations which consisted of forward and backward translations, and toe up and down rotations. Nine congenitally totally blind and nine sighted adults served as subjects. EMG signals were recorded from four muscles in the right leg, and reaction time to somatosensory stimuli generated by platform displacements was measured by pushing a hand-held button. To assess the ability to control postural balance, the root mean square (RMS) values for lateral and antero-posterior sway before, during, and after perturbations were calculated. The EMG amplitude in the gastrocnemius muscle of a blind subject was smaller than that of a sighted subject with eyes closed. No significant differences were found between blind and sighted subjects in EMG latencies of the lower extremity muscles in response to perturbations. The blind subjects had significantly faster reaction times to somatosensory stimuli triggered by platform displacements, but in toe down rotations no significant difference was found between blind and sighted subjects. The difference in the EMG latencies and reaction times between the two groups suggests that blindness from birth may not affect the spinal stretch reflex, but may affect a volitional act mediated through the motor cortex. There were also no significant differences in the RMS values for postural sway between blind and sighted subjects with eyes open or closed, although blind subjects swayed more after backward translations than did sighted subjects with eyes open. Results suggest that the ability to control postural balance during perturbations was not affected by vision loss from birth. Our findings suggest that the automatic postural response systems of humans are unaffected by the absence of vision from birth and are rather hard wired.

  4. A review of congenital lung malformations with a simplified classification system for clinical and research use.

    Science.gov (United States)

    Seear, Michael; Townsend, Jennifer; Hoepker, Amy; Jamieson, Douglas; McFadden, Deborah; Daigneault, Patrick; Glomb, William

    2017-06-01

    Congenital lung abnormalities are rare malformations increasingly detected early by prenatal ultrasound. Whether management of these frequently asymptomatic lesions should be surgical or conservative is an unresolved issue. The necessary prospective studies are limited by the absence of a widely accepted practical classification system. Our aim was to develop a simple, clinically relevant system for classifying and studying congenital lung abnormalities. We based our proposed grouping on a detailed analysis of clinical, radiological, and histological data from well-documented cases, plus an extensive review of the literature. The existence of hybrid lesions and common histological findings suggested a unified embryological mechanism-possibly obstruction of developing airways with distal dysplasia. Malformations could be classified by their anatomical and pathological findings; however, a system based on the prenatal ultrasound plus initial chest X-ray findings had greater clinical relevance: Group 1-Congenital solid/cystic lung malformation, Group 2-Congenital hyperlucent lobe, Group 3-Congenital small lung. Pathological classification is academically important but is unnecessarily complex for clinical and research use. Our simple radiological-based system allows unambiguous comparison between the results of different studies and also guides the choice of necessary investigations specific to each group.

  5. Congenital non-central nervous system malformations in cerebral palsy: a distinct subset?

    Science.gov (United States)

    Self, Lauren; Dagenais, Lynn; Shevell, Michael

    2012-08-01

    The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations. A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n = 34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n = 207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V). Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. The incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  6. Congenital Giant Hydroureteric Cistern in a Duplex System of an Infant

    Directory of Open Access Journals (Sweden)

    O. T. Awolaran

    2013-01-01

    Full Text Available Duplex collecting system is a congenital genitourinary anomaly commonly found incidentally. Our experience with a duplex system associated with giant hydroureter presenting as mobile abdominal swelling that was noticed from birth, constipation, and failure to thrive is described. Ultrasound and IVU did not assist in making the diagnosis, while a barium enema suggested a colonic duplication. Congenital giant hydroureter should be considered as a differential diagnosis in infants with cystic abdominal swelling. A preserved renal moiety attributed to a dilated ureteric cistern was a unique theory in this case.

  7. Positive correlation between pesticide sales and central nervous system and cardiovascular congenital abnormalities in Brazil.

    Science.gov (United States)

    Froes Asmus, Carmen I R; Camara, Volney M; Raggio, Ronir; Landrigan, Philip J; Claudio, Luz

    2017-10-01

    This study investigated the association between pesticide exposure in Brazil (2005-2013) with rates of central nervous system (CNS) and cardiovascular system (CVS) congenital abnormalities in 2014. An exposure variable was established from data on production and sales of pesticides (kg) per crop area (ha) for 2012 and 2013 years. The Brazilian states were divided into three categories: high, medium, and low pesticide use and rate ratios were estimated for each group of states (CI: 95 %). In 2013 and 2014, the high use group presented a 100 and a 75 % increase, and the medium group a 65 and 23 % increase, respectively, in the risk of CNS and CVS congenital abnormalities at birth, compared to the low use group. These findings suggest that pesticide exposure could be associated with increased risk of congenital malformations at birth in Brazil.

  8. Electroencephalography in congenital malformations of the central nervous system

    Directory of Open Access Journals (Sweden)

    Patrícia Campos

    1994-12-01

    Full Text Available We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

  9. Tomographic and clinical aspects of the central nervous system anomalies associated to the craniofacial congenital changes

    International Nuclear Information System (INIS)

    Bellucci, Angela Delete.

    1994-01-01

    This work proposes to study people presenting craniofacial congenital anomalies, with or without mental disorders, regardless their association to other anomalies in the body middle line, aiming to verify the central nervous system frequency of concurrence with structural anomalies associated, within the clinic and phenotype spectra of that syndromes. (author). 182 refs., 36 figs

  10. Congenital absence of infrarenal IVC and iliac venous system : Unusual collateral Pathways

    International Nuclear Information System (INIS)

    Lee, Jin Joo; Lee, Byung Hee; Kim, Kie Hwan; Do, Young Soo; Chin, Soo Yil

    1994-01-01

    We present a case with congenital absence of the infrarenal portion of inferior vena cava and iliac venous system, showing unusual venous collaterals including the left ovarian venous collateral via parametrial venous complex, and a mesenteric-periureteric venous connection. The venous collateral pathways were demonstrated by computed tomography and venography

  11. Congenital eyelid ptosis: onset and prevalence of amblyopia, associations with systemic disorders, and treatment outcomes.

    Science.gov (United States)

    Stein, August; Kelly, John P; Weiss, Avery H

    2014-10-01

    To determine the age at onset of amblyopia, the response to occlusion therapy, and the association with systemic disorders in children with congenital eyelid ptosis. Retrospective chart review of children seen at Seattle Children's Hospital with moderate or severe congenital ptosis. Assessments were longitudinal visual acuity development using objective methods, definition of ptosis severity by eyelid margin to pupillary light reflex distance (margin reflex distance [MRD]), age at amblyopia diagnosis, correlation between amblyopia and MRD, and associated systemic disorders. Eighty-four children with moderate-to-severe congenital ptosis met inclusion criteria; the mean longitudinal follow-up was 49.1 months. Fifteen (18%) of these children had amblyopia, of which 9 had deprivation amblyopia (mean age 17.3 months ± 11.2) and 6 had anisometropic or strabismic amblyopia (mean age 60 months ± 11.8). Eleven (73%) of the children with amblyopia were successfully treated with occlusion therapy. Amblyopia was not correlated with MRD. A systemic disorder was identified in 29 (35%) of the children, the most common being genetic, chromosomal, or neurologic conditions. Patients with systemic disorders and developmental delay have significantly lower visual acuity bilaterally compared with patients without systemic disorders (P ≤ .003). Using longitudinal and objective visual acuity assessments, the incidence of amblyopia was 18% in children with moderate to severe congenital ptosis. Visual deprivation was the predominant risk factor that was reliably distinguished by its earlier onset in young children. The best indicator of amblyopia in children is visual acuity rather than MRD measurements. Systemic disorders are frequent in children with moderate to severe congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Clinical Observation of Concomitant Congenital Heart Disease and Anomaly of the Urinary System in Adolescent

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-08-01

    Full Text Available The article presents the clinical observation of multiple malformations in a child: combination of congenital heart disease with an anomaly of the urinary system on the background of undifferentiated connective tissue dysplasia syndrome of maximum severity. This case report is of interest to pediatricians. Children with defects of the heart and urinary system often have other malformations, so in these patients it is important to conduct a full multisystem examination.

  13. Functional vision and cognition in infants with congenital disorders of the peripheral visual system.

    Science.gov (United States)

    Dale, Naomi; Sakkalou, Elena; O'Reilly, Michelle; Springall, Clare; De Haan, Michelle; Salt, Alison

    2017-07-01

    To investigate how vision relates to early development by studying vision and cognition in a national cohort of 1-year-old infants with congenital disorders of the peripheral visual system and visual impairment. This was a cross-sectional observational investigation of a nationally recruited cohort of infants with 'simple' and 'complex' congenital disorders of the peripheral visual system. Entry age was 8 to 16 months. Vision level (Near Detection Scale) and non-verbal cognition (sensorimotor understanding, Reynell Zinkin Scales) were assessed. Parents completed demographic questionnaires. Of 90 infants (49 males, 41 females; mean 13mo, standard deviation [SD] 2.5mo; range 7-17mo); 25 (28%) had profound visual impairment (light perception at best) and 65 (72%) had severe visual impairment (basic 'form' vision). The Near Detection Scale correlated significantly with sensorimotor understanding developmental quotients in the 'total', 'simple', and 'complex' groups (all pvisual impairment, especially in the 'complex' group with congenital disorders of the peripheral visual system with known brain involvement, showed the greatest cognitive delay. Lack of vision is associated with delayed early-object manipulative abilities and concepts; 'form' vision appeared to support early developmental advance. This paper provides baseline characteristics for cross-sectional and longitudinal follow-up investigations in progress. A methodological strength of the study was the representativeness of the cohort according to national epidemiological and population census data. © 2017 Mac Keith Press.

  14. Prevention of Congenital Transmission of Malaria in Sub-Saharan African Countries: Challenges and Implications for Health System Strengthening

    OpenAIRE

    Osungbade, Kayode O.; Oladunjoye, Olubunmi O.

    2012-01-01

    Objectives. Review of burden of congenital transmission of malaria, challenges of preventive measures, and implications for health system strengthening in sub-Saharan Africa. Methods. Literature from Pubmed (MEDLINE), Biomed central, Google Scholar, and Cochrane Database were reviewed. Results. The prevalence of congenital malaria in sub-Saharan Africa ranges from 0 to 23%. Diagnosis and existing preventive measures are constantly hindered by weak health systems and sociocultural issues. WHO ...

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

    International Nuclear Information System (INIS)

    Jansen, O.; Stephani, U.

    2007-01-01

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

  16. A congenital malformation of the systemic heart complex in Sepia officinalis L. (Cephalopoda)

    Science.gov (United States)

    Schipp, R.; von Boletzky, S.; Jakobs, P.; Labourg, P. J.

    1998-03-01

    In semi-adult Sepia officinalis L. (Cephalopoda) from the Bay of Arcachon (France) a congenital malformation of the systemic heart is described by macro-and microscopical methods. It concerns an atypical doubling of the site of insertion at the cephalic aorta at the apical ventricle. Its comparison with the paired anlagen of the systemic heart complex in normal embryogenesis and the central circulatory system of Nautilus gives rise to interpret it as a form of atavism. The possible causal role of mutagenic antifoulings is discussed.

  17. [Central nervous system abnormalities related to congenital fibrosis of extraocular muscles].

    Science.gov (United States)

    Moguel-Ancheita, Silvia; Rodríguez-Garcidueñas, Wendolyn

    2009-01-01

    We undertook this study to describe central nervous system (CNS) abnormalities associated with congenital cranial dysinnervation disorders (CCDD). This was a retrospective, observational, transversal and descriptive study including patients with congenital fibrotic strabismus. We analyzed clinical files of patients from 2001 to 2006. Neurological lesions were reported. Restrictive strabismus was demonstrated in all cases. Sixteen patients were included: nine males and seven females. Different neurological lesions were reported: corpus callosum anomalies, severe cortipathy, epilepsy, cavum vergae, nystagmus, occipital subarachnoid cyst, and hydrocephalus. Mental retardation was reported in 56% of patients. Different malformations were reported: genital malformations, trigonocephalus, camptodactyly, mild facial hypoplasia, low set ears, and agenesis of left ear. Blepharoptosis was present in 81% of patients. The most frequent form of strabismus was exotropia (56%), hypotropia in 37.5%, hypertropia 18.7%, "A" pattern 18.7%, and esotropia in 6.25%. Affection was cranial nerve III, 93.75%; cranial nerve VI, 6.25%; cranial nerve VII, 6.25%; and lesion to cranial nerve II in eight cases (50%). We have suggested that failure in early stages of embryology of the CNS can lead to the development of paralytic strabismus and generate secondary fibrotic changes, not only in muscle structures but also in other orbital tissues. That is the reason why we have used the term "congenital fibrotic strabismus" to report cases included in CCDD. We have demonstrated the strong association of mental retardation and neurological alterations. Multidisciplinary rehabilitation is relevant for these patients.

  18. [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.

  19. General Concepts in Adult Congenital Heart Disease

    OpenAIRE

    Ferit Onur Mutluer; Alpay Çeliker

    2018-01-01

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This m...

  20. Complete Congenital Heart Block in a Newborn Associated with Maternal Systemic Lupus Erythematosus: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahmoud A. Kiblawi

    2013-12-01

    Full Text Available Background: Complete Congenital Heart Block (CCHB is a rare disease of the newborn that carries significant morbidity and mortality. CCHB can be diagnosed early or late in life. In newborns, it is usually associated with maternal autoantibodies or a congenital cardiac structural abnormality. The most common presentation of CCHB is bradycardia that can be diagnosed by an electrocardiogram. Results: This is a case report of a male infant born to a mother with an autoimmune disease, Systemic Lupus Erythematosus (SLE, who was found to have third degree heart block at birth. Conclusion: Early diagnosis and prompt management of the case is important for a better prognosis and prevention of associated complications. Neonates with CCHB should be managed at a tertiary care center and the only definite treatment is insertion of a pacemaker. Moreover, prenatal diagnosis and specific obstetric counseling of pregnant women with SLE along with careful monitoring with serial ultrasonography and echocardiography are of paramount importance in prevention of the disease in subsequent offspring.

  1. Congenital anomalous/aberrant systemic artery to pulmonary venous fistula: Closure with vascular plugs & coil embolization

    Directory of Open Access Journals (Sweden)

    Pankaj Jariwala

    2014-01-01

    Full Text Available A 7-month-old girl with failure to thrive, who, on clinical and diagnostic evaluation [echocardiography & CT angiography] to rule out congenital heart disease, revealed a rare vascular anomaly called systemic artery to pulmonary venous fistula. In our case, there was dual abnormal supply to the entire left lung as1 anomalous supply by normal systemic artery [internal mammary artery]2 and an aberrant feeder vessel from the abdominal aorta. Left Lung had normal bronchial connections and normal pulmonary vasculature. The fistula drained through the pulmonary veins to the left atrium leading to ‘left–left shunt’. Percutaneous intervention in two stages was performed using Amplatzer vascular plugs and coil embolization to close them successfully. The patient gained significant weight in follow up with other normal developmental and mental milestones.

  2. Pediatric patient with systemic lupus erythematosus & congenital acquired immunodeficiency syndrome: An unusual case and a review of the literature

    Directory of Open Access Journals (Sweden)

    Rezaee Fariba

    2008-05-01

    Full Text Available Abstract The coexistence of systemic lupus erythematosus (SLE in patients with congenital human immunodeficiency virus (HIV infection is rare. This is a case report of a child diagnosed with SLE at nine years of age. She initially did well on non-steroidal anti-inflammatory agents, hydroxychloroquine, and steroids. She then discontinued her anti-lupus medications and was lost to follow-up. At 13 years of age, her lupus symptoms had resolved and she presented with intermittent fevers, cachexia, myalgias, arthralgias, and respiratory symptoms. Through subsequent investigations, the patient was ultimately diagnosed with congenitally acquired immunodeficiency syndrome (AIDS.

  3. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  4. Congenital Hypothyroidism

    Science.gov (United States)

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

  5. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

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

  6. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

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

  7. The renin–angiotensin–aldosterone-system and right heart failure in congenital heart disease

    OpenAIRE

    Stine Andersen, Stine Andersen; Andersen, Asger; Nielsen-Kudsk, Jens Erik

    2017-01-01

    Adults with congenital heart disease represent a rapidly growing patient group. Dysfunction of the right ventricle is often present, and right heart failure constitutes the main cause of death. Heart failure therapies used in acquired left heart failure are often initiated in adults with right heart failure due to congenital heart disease, but the right ventricle differs substantially from the left ventricle, and the clinical evidence for this treatment strategy is lacking. In this review,...

  8. Congenital heart disease: interrelation between German diagnosis-related groups system and Aristotle complexity score.

    Science.gov (United States)

    Sinzobahamvya, Nicodème; Photiadis, Joachim; Arenz, Claudia; Kopp, Thorsten; Hraska, Viktor; Asfour, Boulos

    2010-06-01

    The Disease-Related Groups (DRGs) system postulates that inpatient stays with similar levels of clinical complexity are expected to consume similar amounts of resources. This, applied to surgery of congenital heart disease, suggests that the higher the complexity of procedures as estimated by the Aristotle complexity score, the higher hospital reimbursement should be. This study analyses how much case-mix index (CMI) generated by German DRG 2009 version correlates with Aristotle score. A total of 456 DRG cases of year 2008 were regrouped according to German DRG 2009 and related cost-weight values and overall CMI evaluated. Corresponding Aristotle basic and comprehensive complexity scores (ABC and ACC) and levels were determined. Associated surgical performance (Aristotle score times hospital survival) was estimated. Spearman 'r' correlation coefficients were calculated between Aristotle scores and cost-weights. Goodness of fit 'r(2)' from derived regression was determined. Correlation was estimated to be optimal if Spearman 'r' and derived goodness of fit 'r(2)' approached 1 value. CMI was 8.787 while mean ABC and ACC scores were 7.64 and 9.27, respectively. Hospital survival was 98.5%: therefore, surgical performance attained 7.53 (ABC score) and 9.13 (ACC score). ABC and ACC scores and levels positively correlated with cost-weights. With Spearman 'r' of 1 and goodness of fit 'r(2)' of 0.9790, scores of the six ACC levels correlated at best. The equation was y = 0.5591 + 0.939x, in which y stands for cost-weight (CMI) and x for score of ACC level. ACC score correlates almost perfectly with corresponding cost-weights (CMI) generated by the German DRG 2009. It could therefore be used as the basis for hospital reimbursement to compensate in conformity with procedures' complexity. Extrapolated CMI in this series would be 9.264. Modulation of reimbursement according to surgical performance could be established and thus 'reward' quality in congenital heart surgery

  9. Outcomes and Prognostic Factors for Adult Patients With Congenital Heart Disease Undergoing Primary or Reoperative Systemic Atrioventricular Valve Surgery.

    Science.gov (United States)

    Stephens, Elizabeth H; Han, Jiho; Ginns, Jonathan; Rosenbaum, Marlon; Chai, Paul; Bacha, Emile; Kalfa, David

    2017-05-01

    Adults with congenital heart disease (ACHD) undergoing systemic atrioventricular valve (SAVV) surgery are a complex, understudied population. We assessed midterm outcomes and prognostic factors in ACHD undergoing SAVV surgery. We performed retrospective evaluation of ACHD undergoing SAVV surgery from January 2005 to February 2016: 14 (33%) patients with congenital mitral valve stenosis/regurgitation, 15 (35%) with atrioventricular septal defect (AVSD), and 14 (33%) with congenitally corrected transposition of the great arteries (ccTGA) with systemic tricuspid valve regurgitation. Adverse events were defined as mortality, reoperation on SAVV, and late more-than-moderate (> moderate) SAVV regurgitation. Statistical analysis was performed using Fisher's exact test and one-way analysis of variance as well as univariate and multivariate risk factor analysis. Fifteen (35%) patients had preoperative systemic ventricular dysfunction, including 13 patients with ccTGA (93%, P moderate SAVV regurgitation, and SAVV reoperation rates were 5% (n = 2), 2% (n = 1), 9% (n = 3), and 7% (n = 3), respectively. On multivariate analysis, predischarge SAVV regurgitation grade was the only significant predictor of adverse events (odds ratio = 8.2, 95% confidence interval: 1.1-63.8, P = .045). Overall outcomes in this challenging population are good. The single factor associated with adverse events was predischarge SAVV regurgitation grade.

  10. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

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

  11. Congenital Myopathy

    Science.gov (United States)

    ... results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting ...

  12. Congenital Myasthenia

    Science.gov (United States)

    ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ...

  13. Congenital ganglioglioma.

    Science.gov (United States)

    Karthikeyan, Gengaimuthu; Subburam, Paiyanan; Ravishankar, Soundian Soundian

    2002-03-01

    Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is static and his assessed developmental age is 10-12 months.

  14. Congenital Cutaneous Candidiasis: Prompt Systemic Treatment Is Associated With Improved Outcomes in Neonates.

    Science.gov (United States)

    Kaufman, David A; Coggins, Sarah A; Zanelli, Santina A; Weitkamp, Jörn-Hendrik

    2017-05-15

    Congenital cutaneous candidiasis (CCC) is a challenging diagnosis due to various rash presentations. Inadequate early treatment is associated with high rates of dissemination and death. The effects of early diagnosis, dermatologic presentation, and antifungal treatment on outcomes are lacking. CCC cases were reviewed from 2 academic neonatal intensive care units (NICUs) from 2004 to 2015. We defined CCC as a diffuse rash involving the body, extremities, face or scalp, and/or funisitis, presenting in the first week (≤7 days), with identification of Candida species from skin or mucous membrane cultures, and/or by culture or staining of the placenta or umbilical cord. CCC occurred in 0.1% of all NICU admissions (21 of 19 303) and 0.6% of infants <1000 grams birth weight. Median gestational age of CCC infants was 26 3/7 (range, 23 0/7-40 4/7) weeks. Skin findings were commonly present on the day of birth [median (range): 0 (0-6) days], appearing most frequently as a desquamating, maculopapular, papulopustular, and/or erythematous diffuse rash. When systemic antifungal therapy was started empirically at the time of rash presentation and continued for a median (interquartile range) of 14 (14-15) days, all patients survived and none developed dissemination. Delaying systemic treatment, exclusive use of nystatin, and treating for <10 days was associated with Candida bloodstream dissemination. CCC is an invasive infection that presents as a diffuse rash in preterm and term infants. Prompt systemic antifungal treatment at the time of skin presentation for ≥14 days prevents dissemination and Candida-related mortality. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

  15. Congenital foot deformation alters the topographic organization in the primate somatosensory system.

    Science.gov (United States)

    Liao, Chia-Chi; Qi, Hui-Xin; Reed, Jamie L; Miller, Daniel J; Kaas, Jon H

    2016-01-01

    Limbs may fail to grow properly during fetal development, but the extent to which such growth alters the nervous system has not been extensively explored. Here we describe the organization of the somatosensory system in a 6-year-old monkey (Macaca radiata) born with a deformed left foot in comparison to the results from a normal monkey (Macaca fascicularis). Toes 1, 3, and 5 were missing, but the proximal parts of toes 2 and 4 were present. We used anatomical tracers to characterize the patterns of peripheral input to the spinal cord and brainstem, as well as between thalamus and cortex. We also determined the somatotopic organization of primary somatosensory area 3b of both hemispheres using multiunit electrophysiological recording. Tracers were subcutaneously injected into matching locations of each foot to reveal their representations within the lumbar spinal cord, and the gracile nucleus (GrN) of the brainstem. Tracers injected into the representations of the toes and plantar pads of cortical area 3b labeled neurons in the ventroposterior lateral nucleus (VPL) of the thalamus. Contrary to the orderly arrangement of the foot representation throughout the lemniscal pathway in the normal monkey, the plantar representation of the deformed foot was significantly expanded and intruded into the expected representations of toes in the spinal cord, GrN, VPL, and area 3b. We also observed abnormal representation of the intact foot in the ipsilateral spinal cord and contralateral area 3b. Thus, congenital malformation influences the somatotopic representation of the deformed as well as the intact foot.

  16. Cardiac resynchronization therapy for various systemic ventricular morphologies in patients with congenital heart disease.

    Science.gov (United States)

    Sakaguchi, Heima; Miyazaki, Aya; Yamada, Osamu; Kagisaki, Koji; Hoashi, Takaya; Ichikawa, Hajime; Ohuchi, Hideo

    2015-01-01

    Cardiac resynchronization therapy (CRT) can result in functional improvement and reduced mortality in patients with medically refractory heart failure. Although CRT is reportedly effective in patients with congenital heart disease (CHD), it is still controversial in patients who have systemic right ventricle. METHODS AND RESULTS: Twenty CHD patients treated with CRT since 2006 were divided into 3 groups based on systemic ventricular (sysV) morphology (7 with left ventricle [sLV], 7 with right ventricle [sRV], and 6 with unbalanced 2 ventricles as a single-ventricular physiology [sBV]). The acute effects of CRT on hemodynamics and sysV function before device implantation was retrospectively evaluated and the chronic (≥6 months) effects of CRT on late outcomes was assessed. In our CHD populations, sysV volume index was reduced from 139±41 to 118±33 ml/m(2)(P=0.04) after CRT, and there was significant improvement in B-type natriuretic peptide levels (from 341±384 to 160±152 pg/ml, P=0.01) and New York Heart Association (NYHA) functional class (from 2.1±0.6 to 1.8±0.7, P=0.02) on a late outcome. The sRV group did not show a late sysV volume reduction despite significant QRS shortening, and an increase of sysV peak dP/dt in the acute study differed from that of other groups. CRT improves late hemodynamic and functional status in sLV and sBV CHD patients with a dyssynchronized sysV. However, an acute CRT effect cannot guarantee long-term benefit in sRV patients.

  17. Subjective benefit after BAHA system application in patients with congenital unilateral conductive hearing impairment.

    NARCIS (Netherlands)

    Kunst, S.J.W.; Hol, M.K.S.; Mylanus, E.A.M.; Leijendeckers, J.M.; Snik, A.F.M.; Cremers, C.W.R.J.

    2008-01-01

    OBJECTIVE: To study whether unilateral Bone-anchored Hearing Aid (BAHA) fitting led to subjective hearing benefit in patients with congenital unilateral conductive hearing impairment. STUDY DESIGN: Prospective evaluation on 20 patients. SETTING: Tertiary referral center. PATIENTS: Ten adults and 10

  18. The renin–angiotensin–aldosterone-system and right heart failure in congenital heart disease

    Directory of Open Access Journals (Sweden)

    Stine Andersen

    2016-06-01

    To conclude, existing studies do not support the use of RAAS inhibitory treatments in right heart failure due to congenital heart disease but contain important limitations. Hence, there is a need for new well-designed trials including higher numbers of patients and validated endpoints to optimize and guide future treatment of this patient group.

  19. 78 FR 7659 - Revised Medical Criteria for Evaluating Congenital Disorders That Affect Multiple Body Systems

    Science.gov (United States)

    2013-02-04

    ... catastrophic congenital disorders, such as anencephaly, cyclopia, chromosome 13 trisomy (Patau syndrome or... listings 10.06 and 110.06 Non-mosaic Down syndrome. The commenter suggested that an individual be found to meet the criteria of the listings unless chromosomal analysis shows a diagnosis of mosaic Down syndrome...

  20. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  1. Tracheomalacia - congenital

    Science.gov (United States)

    ... other congenital abnormalities, such as heart defects, developmental delay, or gastroesophageal reflux. Aspiration pneumonia can occur from ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  2. 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.

  3. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. A Population-Based Case-Control Study of Drinking-Water Nitrate and Congenital Anomalies Using Geographic Information Systems (GIS) to Develop Individual-Level Exposure Estimates

    Science.gov (United States)

    Holtby, Caitlin E.; Guernsey, Judith R.; Allen, Alexander C.; VanLeeuwen, John A.; Allen, Victoria M.; Gordon, Robert J.

    2014-01-01

    Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5–5.56 mg/L (2.44; 1.05–5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92–5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration. PMID:24503976

  5. 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.

  6. Bilateral peri-renal lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    T P Rajeev

    2006-01-01

    Full Text Available A 30 yrs old female with non-specific abdominal pain is presented. Ultrasound, computerised tomography abdomen were performed. A finely septated fluid collection surrounding both kidneys were found. Ultrasound guided fluid aspiration; chemical and cytological evaluation of the fluid was done. Exploration was done on the right side with the idea of removing the peri- renal cystic lymphatic collection. The entire cystic collection was removed. Patient followed up for the last two years and there is no recurrence of the cystic collection and the kidney function is preserved.

  7. 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." © 2015 Elsevier B.V. All rights reserved.

  8. Congenital Constrictions

    OpenAIRE

    K Pavithran; Ramachandran Nair

    1984-01-01

    A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  9. Congenital Constrictions

    Directory of Open Access Journals (Sweden)

    K Pavithran

    1984-01-01

    Full Text Available A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  10. Jarvik 2000 axial-flow ventricular assist device placement to a systemic morphologic right ventricle in congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Tanoue, Yoshihisa; Jinzai, Yuki; Tominaga, Ryuji

    2016-03-01

    Few descriptions of the implantation and management of an implantable ventricular assist device in patients with complex congenital heart disease exist in the literature. The Jarvik 2000 axial-flow ventricular assist device (Jarvik Heart, Inc., NYC, NY, USA) can be placed in either the left or the right ventricle. We present the case of a 60-year-old man with congenitally corrected transposition of the great arteries who underwent successful placement of a Jarvik 2000 axial-flow ventricular assist device in a systemic morphologic right ventricle.

  11. Functional and structural changes throughout the auditory system following congenital and early-onset deafness: implications for hearing restoration

    Science.gov (United States)

    Butler, Blake E.; Lomber, Stephen G.

    2013-01-01

    The absence of auditory input, particularly during development, causes widespread changes in the structure and function of the auditory system, extending from peripheral structures into auditory cortex. In humans, the consequences of these changes are far-reaching and often include detriments to language acquisition, and associated psychosocial issues. Much of what is currently known about the nature of deafness-related changes to auditory structures comes from studies of congenitally deaf or early-deafened animal models. Fortunately, the mammalian auditory system shows a high degree of preservation among species, allowing for generalization from these models to the human auditory system. This review begins with a comparison of common methods used to obtain deaf animal models, highlighting the specific advantages and anatomical consequences of each. Some consideration is also given to the effectiveness of methods used to measure hearing loss during and following deafening procedures. The structural and functional consequences of congenital and early-onset deafness have been examined across a variety of mammals. This review attempts to summarize these changes, which often involve alteration of hair cells and supporting cells in the cochleae, and anatomical and physiological changes that extend through subcortical structures and into cortex. The nature of these changes is discussed, and the impacts to neural processing are addressed. Finally, long-term changes in cortical structures are discussed, with a focus on the presence or absence of cross-modal plasticity. In addition to being of interest to our understanding of multisensory processing, these changes also have important implications for the use of assistive devices such as cochlear implants. PMID:24324409

  12. [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.

  13. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    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.)

  14. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. A Comparative Study of Coping Strategies and the Features of Interpersonal Relations and Life Orientations of People with Congenital and Acquired Diseases of the Musculoskeletal System

    Science.gov (United States)

    Romanova, E. V.; Tolkacheva, O. N.

    2016-01-01

    The article presents the results of a comparative study of the features of the coping strategies, life orientations, and interpersonal relations of disabled people with acquired and congenital diseases of the musculoskeletal system. The authors discovered differences in interpersonal behavior in the area of control, and they revealed factors that…

  16. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

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

  17. Systemic Right Ventricle in Adults With Congenital Heart Disease: Anatomic and Phenotypic Spectrum and Current Approach to Management.

    Science.gov (United States)

    Brida, Margarita; Diller, Gerhard-Paul; Gatzoulis, Michael A

    2018-01-30

    The systemic right ventricle (SRV) is commonly encountered in congenital heart disease representing a distinctly different model in terms of its anatomic spectrum, adaptation, clinical phenotype, and variable, but overall guarded prognosis. The most common clinical scenarios where an SRV is encountered are complete transposition of the great arteries with previous atrial switch repair, congenitally corrected transposition of the great arteries, double inlet right ventricle mostly with previous Fontan palliation, and hypoplastic left heart syndrome palliated with the Norwood-Fontan protocol. The reasons for the guarded prognosis of the SRV in comparison with the systemic left ventricle are multifactorial, including distinct fibromuscular architecture, shape and function, coronary artery supply mismatch, intrinsic abnormalities of the tricuspid valve, intrinsic or acquired conduction abnormalities, and varied SRV adaptation to pressure or volume overload. Management of the SRV remains an ongoing challenge because SRV dysfunction has implications on short- and long-term outcomes for all patients irrespective of underlying cardiac morphology. SRV dysfunction can be subclinical, underscoring the need for tertiary follow-up and timely management of target hemodynamic lesions. Catheter interventions and surgery have an established role in selected patients. Cardiac resynchronization therapy is increasingly used, whereas pharmacological therapy is largely empirical. Mechanical assist device and heart transplantation remain options in end-stage heart failure when other management strategies have been exhausted. The present report focuses on the SRV with its pathological subtypes, pathophysiology, clinical features, current management strategies, and long-term sequelae. Although our article touches on issues applicable to neonates and children, its main focus is on adults with SRV. © 2018 American Heart Association, Inc.

  18. 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.

  19. Hyperammonemia and systemic inflammatory response syndrome predicts presence of hepatic encephalopathy in dogs with congenital portosystemic shunts.

    Directory of Open Access Journals (Sweden)

    Mickey S Tivers

    Full Text Available Hepatic encephalopathy (HE is an important cause of morbidity and mortality in patients with liver disease. The pathogenesis of he is incompletely understood although ammonia and inflammatory cytokines have been implicated as key mediators. To facilitate further mechanistic understanding of the pathogenesis of HE, a large number of animal models have been developed which often involve the surgical creation of an anastomosis between the hepatic portal vein and the caudal vena cava. One of the most common congenital abnormalities in dogs is a congenital portosystemic shunt (cpss, which closely mimics these surgical experimental models of HE. Dogs with a cPSS often have clinical signs which mimic clinical signs observed in humans with HE. Our hypothesis is that the pathogenesis of HE in dogs with a cPSS is similar to humans with HE. The aim of the study was to measure a range of clinical, haematological and biochemical parameters, which have been linked to the development of HE in humans, in dogs with a cPSS and a known HE grade. One hundred and twenty dogs with a cPSS were included in the study and multiple regression analysis of clinical, haematological and biochemical variables revealed that plasma ammonia concentrations and systemic inflammatory response syndrome scores predicted the presence of HE. Our findings further support the notion that the pathogenesis of canine and human HE share many similarities and indicate that dogs with cPSS may be an informative spontaneous model of human HE. Further investigations on dogs with cPSS may allow studies on HE to be undertaken without creating surgical models of HE thereby allowing the number of large animals used in animal experimentation to be reduced.

  20. Enteric nervous system and esophageal-gastrointestinal motility in experimental congenital diaphragmatic hernia.

    Science.gov (United States)

    Pederiva, Federica; Martinez, Leopoldo; Tovar, J A

    2014-04-01

    Gastroesophageal reflux and intestinal distension have been described in survivors of congenital diaphragmatic hernia (CDH). Deficient enteric innervation demonstrated in experimental models is a likely explanation for these symptoms. This study aimed at further characterizing these anomalies and examining esophageal and intestinal motility in this condition. Pregnant rats received either nitrofen or vehicle on E9.5. Sections of E15, E18, and E21 esophagus and small bowel were stained for protein gene product 9.5, nicotinamide adenine dinucleotide phosphate (NADPH) diaphorase (NADPHd), and acetylcholinesterase (AChE). The proportion of neural tissue/muscle surface was measured and the NADPHd- and AChE-positive motor endplates (MEPs) were counted. E18 and E21 stomachs were stained for AChE, the ganglia were counted and measured. The peristalsis of the esophagus and small bowel was video recorded. The relative neural/muscle surface and the number of NADPHd- and AChE-positive MEPs were decreased on E15 and E18 in the esophagus and small bowel of embryos with CDH, but they tended to improve on E21. The number and the mean surface of stomach ganglia were smaller in E18 and E21 fetuses with CDH. Peristaltic movements were decreased in the esophagus and small bowel of animals with CDH. Deficient enteric innervation impaired gastrointestinal motility in experimental CDH. This could explain some long-term morbidity in the human condition. Georg Thieme Verlag KG Stuttgart · New York.

  1. [Diagnostic values of bronchoscopy and multi-slice spiral CT for congenital dysplasia of the respiratory system in infants: a comparative study].

    Science.gov (United States)

    Wang, Xing-Lu; Huang, Ying; Li, Qu-Bei; Dai, Ji-Hong

    2013-09-01

    To investigate and compare the diagnostic values of bronchoscopy and multi-slice spiral computed tomography (CT) for congenital dysplasia of the respiratory system in infants. Analysis was performed on the clinical data, bronchoscopic findings and multi-slice spiral CT findings of 319 infants (≤1 years old) who underwent bronchoscopy and/or multi-slice spiral CT and were diagnosed with congenital dysplasia of the respiratory system. A total of 476 cases of congenital dysplasia of the respiratory system were found in the 319 infants, including primary dysplasia of the respiratory system (392 cases) and compressive dysplasia of the respiratory system (84 cases). Of the 392 cases of primary dysplasia of the respiratory system, 225 (57.4%) were diagnosed by bronchoscopy versus 167 (42.6%) by multi-slice spiral CT. There were significant differences in etiological diagnosis between bronchoscopy and multi-slice spiral CT in infants with congenital dysplasia of the respiratory system (Prespiratory system caused by tracheobronchomalacia were diagnosed by bronchoscopy and all 17 cases of primary dysplasia of the respiratory system caused by lung tissue dysplasia were diagnosed by multi-slice spiral CT. Of the 84 cases of compressive dysplasia of the respiratory system, 74 cases were diagnosed by multi-slice spiral CT and only 10 cases were diagnosed by bronchoscopy. Compared with multi-slice spiral CT, bronchoscopy can detect primary dysplasia of the respiratory system more directly. Bronchoscopy is valuable in the confirmed diagnosis of tracheobronchomalacia. Multi-slice spiral CT has a higher diagnostic value for lung tissue dysplasia than bronchoscopy.

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

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

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

  3. Predicting mortality after congenital heart surgeries: evaluation of the Aristotle and Risk Adjustement in Congenital Heart Surgery-1 risk prediction scoring systems: a retrospective single center analysis of 1150 patients.

    Science.gov (United States)

    Joshi, Shreedhar S; Anthony, G; Manasa, D; Ashwini, T; Jagadeesh, A M; Borde, Deepak P; Bhat, Seetharam; Manjunath, C N

    2014-01-01

    To validate Aristotle basic complexity and Aristotle comprehensive complexity (ABC and ACC) and risk adjustment in congenital heart surgery-1 (RACHS-1) prediction models for in hospital mortality after surgery for congenital heart disease in a single surgical unit. Patients younger than 18 years, who had undergone surgery for congenital heart diseases from July 2007 to July 2013 were enrolled. Scoring for ABC and ACC scoring and assigning to RACHS-1 categories were done retrospectively from retrieved case files. Discriminative power of scoring systems was assessed with area under curve (AUC) of receiver operating curves (ROC). Calibration (test for goodness of fit of the model) was measured with Hosmer-Lemeshow modification of χ2 test. Net reclassification improvement (NRI) and integrated discrimination improvement (IDI) were applied to assess reclassification. A total of 1150 cases were assessed with an all-cause in-hospital mortality rate of 7.91%. When modeled for multivariate regression analysis, the ABC (χ2 = 8.24, P = 0.08), ACC (χ2 = 4.17 , P = 0.57) and RACHS-1 (χ2 = 2.13 , P = 0.14) scores showed good overall performance. The AUC was 0.677 with 95% confidence interval (CI) of 0.61-0.73 for ABC score, 0.704 (95% CI: 0.64-0.76) for ACC score and for RACHS-1 it was 0.607 (95%CI: 0.55-0.66). ACC had an improved predictability in comparison to RACHS-1 and ABC on analysis with NRI and IDI. ACC predicted mortality better than ABC and RCAHS-1 models. A national database will help in developing predictive models unique to our populations, till then, ACC scoring model can be used to analyze individual performances and compare with other institutes.

  4. Monitoring of congenital anomalies in Latvia.

    Science.gov (United States)

    Irisa Zilie; ViIIeruša, Anita; Gissler, Mika

    2014-09-01

    This study provides a description and analysis of characteristics of the monitoring system for congenital anomalies at birth and prevalence trends in Latvia using retrospective analysis of congenital anomalies at birth with cross-sectional data on prevalence (national data from Latvia, 2000-2010). There are three main monitoring systems on congenital anomalies among newborns and infants: the Medical Birth Register with data on live births with one or more congenital anomalies at birth, the Register on Congenital Anomalies with genetically approved cases for live births and the National Causes of Death Register with data on stillbirths. Methodological problems were analysed by calculating different prevalence rates. The main outcome measures are as follows: prevalence rate, live birth prevalence rate, major congenital anomalies live birth prevalence rate, and stillbirth rate. The live birth period prevalence was 319.7/10,000 live births, and the majoir congenital anomalies live birth prevalence was 211.4/10,000. The period total prevalence rate of births was.323.7/10,000 live births and stillbirths. The stillbirth rate due to congenital anomalies was 6.1/10,000 live and stillbirths. The live birth prevalence with congenital anomalies decreased slightly from the year 2000 tothe year 2010. The present system of congenital anomaly registration requires improvements for better completeness. Latvia should use the experience.of Nordic countries and introduce a mother's and children's identification number to the Medical Birth Register. It would be helpful to link the information from hospitals and perinatal centres together to validate the congenital anomaly diagnoses of newborns after their discharge from the maternity unit. The monitoring system should also include information on pregnancies with congenital anomalies which do not end in birth, especially terminations of pregnancy.

  5. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

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

  7. 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.

  8. A system for rapid prototyping of hearts with congenital malformations based on the medical imaging interaction toolkit (MITK)

    Science.gov (United States)

    Wolf, Ivo; Böttger, Thomas; Rietdorf, Urte; Maleike, Daniel; Greil, Gerald; Sieverding, Ludger; Miller, Stephan; Mottl-Link, Sibylle; Meinzer, Hans-Peter

    2006-03-01

    Precise knowledge of the individual cardiac anatomy is essential for diagnosis and treatment of congenital heart disease. Complex malformations of the heart can best be comprehended not from images but from anatomic specimens. Physical models can be created from data using rapid prototyping techniques, e.g., lasersintering or 3D-printing. We have developed a system for obtaining data that show the relevant cardiac anatomy from high-resolution CT/MR images and are suitable for rapid prototyping. The challenge is to preserve all relevant details unaltered in the produced models. The main anatomical structures of interest are the four heart cavities (atria, ventricles), the valves and the septum separating the cavities, and the great vessels. These can be shown either by reproducing the morphology itself or by producing a model of the blood-pool, thus creating a negative of the morphology. Algorithmically the key issue is segmentation. Practically, possibilities allowing the cardiologist or cardiac surgeon to interactively check and correct the segmentation are even more important due to the complex, irregular anatomy and imaging artefacts. The paper presents the algorithmic and interactive processing steps implemented in the system, which is based on the open-source Medical Imaging Interaction Toolkit (MITK, www.mitk.org). It is shown how the principles used in MITK enable to assemble the system from modules (functionalities) developed independently from each other. The system allows to produce models of the heart (and other anatomic structures) of individual patients as well as to reproduce unique specimens from pathology collections for teaching purposes.

  9. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

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

    2013-01-01

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

  10. Congenital Malformations of the Central Nervous System in Rural Western Honduras: A 6-Year Report on Trends.

    Science.gov (United States)

    Estevez-Ordonez, Dagoberto; Dewan, Michael C; Feldman, Michael J; Montalvan-Sanchez, Eleazar E; Montalvan-Sanchez, Daniela M; Rodriguez-Murillo, Aida A; Urrutia-Argueta, Samuel A; Cherry, Charlotte B; Morgan, Douglas R; Alvarez-Rodriguez, Roberto; Bonfield, Christopher M

    2017-11-01

    Central nervous system (CNS) malformations, including neural tube defects (NTDs), are the second most common type of birth defects worldwide and are major causes of childhood disability and mortality. We report the first analysis of birth prevalence in Western Honduras of CNS malformations including NTDs over 6 consecutive years. Data from all patients with congenital CNS malformations and total live births for the period 2010-2015 were obtained through institution and regional registries from all 3 public referral hospitals in Western Honduras, representing 67 municipalities. Cases were identified using the International Classification of Diseases, Tenth Revision CNS malformation codes. Birth prevalence was calculated as cases per 10,000 live births. From 123,903 live births, 275 cases of CNS malformations were identified (54% females, 58% NTDs). Six-year birth prevalence of CNS malformations was 13.9-31.1. Spina bifida variants and anencephaly represented 80% and 19% of reported NTDs, respectively. Total 6-year prevalence of NTDs in Western Honduras was 7.0-17.4 over years studied. In 6 municipalities, average prevalence was >30 (maximum 49.0). This is the first study reporting disease burden of CNS malformations in Western Honduras. The nationwide birth prevalence of NTDs in rural Honduras may have decreased since the implementation of prenatal health policies in 2005. However, we identified regions with unexpectedly elevated prevalence, indicating high regional prevalence that could be targeted for improved preventive efforts, ultimately decreasing the burden of these conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Cardiac Arrhythmias In Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Paul Khairy

    2009-11-01

    Full Text Available Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy.

  12. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

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

    Science.gov (United States)

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

    2008-08-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Oi, Shizuo; Urui, Seishiro; Asano, Noboru; Masumura, Michio; Shose, Yoshiteru; Matsumoto, Satoshi

    1987-06-01

    Spina bifida and associated congenital anomalies in the central nervous system were evaluated by means of MRI, and the results compared with those obtained by conventional diagnostic procedures. Using the two-dimensional Fourier transform technique, a three-radiofrequency-pulse sequence (inversion recovery: IR 2100/500; spin-echo: SE 2100/40 or 2100/80) was routinely applied. Compared with X-ray CT, MR proved to be more accurate in the detection of the pathoanatomical relation between the lesion and the spinal cord, or that between the spinal dysraphic state and associated intracranial anomalies. MRI was also superior in the anatomical diagnosis of a spinal lipoma, a tethered cord, syringobulbia, syringomyelia, the Chiari anomaly, and so forth. The most considerable disadvantage of MRI in the diagnosis of the spina bifida is the poor information it provides about the bifid spine itself, but this information may be obtained by the use of conventional diagnostic procedures. Also, a regular-conducting MRI system is still insufficient to demonstrate the precise location of the canda equina nerve roots, especially in relation to a lipoma, although the spin-echo MR myelographic technique was helpful in demarcating the major structures, such as the lipoma and the cord. In syringomyelia and syringobulbia, further invasive study in analyzing the fluid dynamics is needed to determine the proper operative procedure. It was emphasized in this study that MRI is an extremely valuable diagnostic tool also in the diagnosis of spinal dysraphism, especially in the detection of a pathoanatomical structure, but can also be expected to be improved so as to make possible finer anatomical analysis and provide a higher quality of information on the fluid dynamics, at least so as to indicate operative procedures without any invasive methods. (J.P.N.).

  15. Congenital malformations prevalent among Egyptian children and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    Congenital malformations;. Egyptian children;. Risk factors;. Antenatal care;. Consanguinity;. Birth weight. Abstract According to the World Health Organization the term congenital anomaly includes .... is the most popular country in the Middle East and the third ..... multiple systems, as well as Down syndrome, increased with.

  16. Congenital parasitic infections: a review.

    Science.gov (United States)

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  17. Congenital heart disease

    Science.gov (United States)

    ... this 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 ...

  18. Socioeconomic status and prevalence of congenital heart defects: does universal access to health care system eliminate the gap?

    Science.gov (United States)

    Agha, Mohammad M; Glazier, Richard H; Moineddin, Rahim; Moore, Aideen M; Guttmann, Astrid

    2011-12-01

    A twofold increase in the prevalence of congenital heart defects (CHDs) has been reported since the early 1970s with higher rates among children from low socioeconomic status (SES). This increase and the observed SES gap are postulated to be reflective of higher ascertainment, especially increased use of ultrasound and echography. The purpose of this study was to examine if trends over time in the prevalence of CHD were the same for high and low SES groups. Using the child's health number as a unique identifier and through record linkage, children born in Ontario between 1994 and 2007 were followed for the diagnosis of CHD. Using postal codes and census information, SES quintiles were assigned to each child. We used adjusted rates and used multivariate models to compare trends in the prevalence rate among children born in different SES groups. Children born in low SES areas (23% of all births) had significantly higher rates of CHDs (rate ratio = 1.20; 95% confidence interval [CI] = 1.15-1.24). While prevalence of nonsevere CHDs declined in all SES groups since 2000, severe CHDs, especially atrial septal defects were on the rise during the study period. It is assumed that increased ascertainment is responsible for observed increase in the prevalence of CHD, especially minor defects. While the trend and pattern over time changed for severe and nonsevere CHDs, the SES gap remained consistent during the study period. Our results indicate that even free and universal access to a health care system does not eliminate the SES gap observed in the prevalence of CHD. Copyright © 2011 Wiley Periodicals, Inc.

  19. Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs.

    Science.gov (United States)

    Yamamoto, Tomoko; Shibata, Noriyuki; Saito, Yoshiaki; Osawa, Makiko; Kobayashi, Makio

    2010-06-01

    Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disease, exhibiting muscular dystrophy, and central nervous system (CNS) and ocular malformations. It is included in alpha-dystroglycanopathy, a group of muscular dystrophy showing reduced glycosylation of alpha-dystroglycan. alpha-Dystroglycan is one of the components of dystrophin-glycoprotein complex linking extracellular and intracellular proteins. The sugar chains of alpha-dystroglycan are receptors for extracellular matrix proteins such as laminin. Fukutin, a gene responsible for FCMD, is presumably related to the glycosylation of alpha-dystroglycan like other causative genes of alpha-dystroglycanopathy. The CNS lesion of FCMD is characterized by cobblestone lissencephaly, associated with decreased glycosylation of alpha-dystroglycan in the glia limitans where the basement membrane is formed. Astrocytes whose endfeet form the glia limitans seem to be greatly involved in the genesis of the CNS lesion. Fukutin is probably necessary for astrocytic function. Other components of the CNS may also need fukutin, such as migration and synaptic function in neurons. However, roles of fukutin in oligodendroglia, microglia, leptomeninges and capillaries are unknown at present. Fukutin is expressed in various somatic organs as well, and appears to work differently between epithelial cells and astrocytes. In the molecular level, since the dystrophin-glycoprotein complex is linked to cell signaling pathways involving c-src and c-jun, fukutin may be able to affect cell proliferation/survival. Fukutin was localized in the nucleus on cancer cell lines. With the consideration that mutations of fukutin give rise to wide spectrum of the clinical phenotype, more unknown functions of fukutin besides the glycosylation of alpha-dystroglycan can be suggested. Trials for novel treatments including gene therapy are in progress in muscular dystrophies. Toward effective therapies with minimal side effects, precise

  20. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  1. Limb defects associated with major congenital anomalies : Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

    NARCIS (Netherlands)

    Rosano, A; Botto, LD; Olney, RS; Khoury, MJ; Ritvanen, A; Goujard, J; Stoll, C; Cocchi, G; Merlob, P; Mutchinick, O; Cornel, MC; Castilla, EE; Martinez-Frias, ML; Zampino, G; Erickson, JD; Mastroiacovo, P

    2000-01-01

    Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries that are part of the International Clearinghouse

  2. 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.

  3. Patient-reported outcomes in adults with congenital heart disease: Inter-country variation, standard of living and healthcare system factors.

    Science.gov (United States)

    Moons, Philip; Kovacs, Adrienne H; Luyckx, Koen; Thomet, Corina; Budts, Werner; Enomoto, Junko; Sluman, Maayke A; Yang, Hsiao-Ling; Jackson, Jamie L; Khairy, Paul; Cook, Stephen C; Subramanyan, Raghavan; Alday, Luis; Eriksen, Katrine; Dellborg, Mikael; Berghammer, Malin; Johansson, Bengt; Mackie, Andrew S; Menahem, Samuel; Caruana, Maryanne; Veldtman, Gruschen; Soufi, Alexandra; Fernandes, Susan M; White, Kamila; Callus, Edward; Kutty, Shelby; Van Bulck, Liesbet; Apers, Silke

    2018-01-15

    Geographical differences in patient-reported outcomes (PROs) of adults with congenital heart disease (ConHD) have been observed, but are poorly understood. We aimed to: (1) investigate inter-country variation in PROs in adults with ConHD; (2) identify patient-related predictors of PROs; and (3) explore standard of living and healthcare system characteristics as predictors of PROs. Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease - International Study (APPROACH-IS) was a cross-sectional, observational study, in which 4028 patients from 15 countries in 5 continents were enrolled. Self-report questionnaires were administered: patient-reported health (12-item Short Form Health Survey; EuroQOL-5D Visual Analog Scale); psychological functioning (Hospital Anxiety and Depression Scale); health behaviors (Health Behavior Scale-Congenital Heart Disease) and quality of life (Linear Analog Scale for quality of life; Satisfaction With Life Scale). A composite PRO score was calculated. Standard of living was expressed as Gross Domestic Product per capita and Human Development Index. Healthcare systems were operationalized as the total health expenditure per capita and the overall health system performance. Substantial inter-country variation in PROs was observed, with Switzerland having the highest composite PRO score (81.0) and India the lowest (71.3). Functional class, age, and unemployment status were patient-related factors that independently and consistently predicted PROs. Standard of living and healthcare system characteristics predicted PROs above and beyond patient characteristics. This international collaboration allowed us to determine that PROs in ConHD vary as a function of patient-related factors as well as the countries in which patients live. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Congenital hemihypertrophy with hemihypertrichosis.

    Science.gov (United States)

    Akarsu, Saadet; Coskun, Basak Kandi; Aydin, Ayse Murat; Tekatli, Muhittin; Aygun, A Denizmen

    2005-06-01

    The rare condition in which one side of the body seems to grow faster than the other is called hemihypertrophy. This may be accepted as normal, but there are certain serious conditions that may be associated with this type of growth pattern. Congenital hypertrichosis is believed to be a genetic disorder that is inherited or occurs as a result of spontaneous mutation. The incidence of generalised congenital hypertrichosis is about one in a billion. A seven-month-old female case was brought to the hospital with growth and hairiness complaints, which were more apparent in the right side of the face, the right arm and the right leg. Physical examination showed more apparent hypertrophy and hypertrichosis, which covered the entire right side of the body beginning from the face and including the lower extremities and the genitalia. Hypertrichosis was more evident above the right scapula and on the right leg. The diameter of the right upper extremity and the right lower extremity were measured at 13 mm and 14 mm thicker than the left side, respectively. The infant did not have teeth yet and had totally normal nail growth. Skeletal structure, cardiovascular, respiratory, urogenital, central nervous system and eye examinations were all normal. Results of all laboratory analyses, including genetic examination, and those of the imaging techniques were found to be normal. We hereby present the rare co-presence of hemihypertrophy and hemihypertrichosis, for which we could not identify an etiological cause and which is the third such case in the literature.

  5. Congenital rubella

    Science.gov (United States)

    ... Damage to the nervous system is permanent. Possible Complications Complications may involve many parts of the body. ... Rubella syndrome References Gershon AA. Rubella virus (German measles). In: Bennett JE, Dolin R, Blaser MJ, eds. ...

  6. Surgical management of congenital heart disease: contribution of the Aristotle complexity score to planning and budgeting in the German diagnosis-related groups system.

    Science.gov (United States)

    Sinzobahamvya, Nicodème; Photiadis, Joachim; Kopp, Thorsten; Arenz, Claudia; Haun, Christoph; Schindler, Ehrenfried; Hraska, Viktor; Asfour, Boulos

    2012-01-01

    Planning and budgeting for congenital heart surgery depend primarily on how closely reimbursement matches costs and on the number and complexity of the surgical procedures. Aristotle complexity scores for the year 2010 were correlated with hospital costs and with reimbursement according to the German diagnosis-related groups (DRG) system. Unit surgical performance was estimated as surgical performance (complexity score × hospital survival) times the number of primary procedures. This study investigated how this performance evolved during years 2006 to 2010. Hospital costs and reimbursements correlated highly with Aristotle comprehensive complexity levels (Spearman r = 1). Mean costs and reimbursement reached 35,050 ± 32,665 and 31,283 ± 34,732, respectively, for an underfunding of 10.7%. Basic and comprehensive unit surgical performances were respectively 3036 ± 1009 and 3891 ± 1591 points in 2006. Both performances increased in sigmoid fashion to reach 3883 ± 1344 and 5335 ± 1314 points, respectively, in 2010. Top performances would be achieved in year 2011, and extrapolated costs would comprise about 19,434,094.92 (95% confidence interval, 11,961,491.22-22,495,764.42). The current underfunding of congenital heart surgery needs correction. The Aristotle score can help to adjust reimbursement according to complexity of procedures. Unit surgical performance allows accurate budgeting in the current German DRG system.

  7. 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.

  8. 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

  9. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

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

  10. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

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

  11. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

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

  12. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

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

  13. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

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

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

    Science.gov (United States)

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

    2017-08-01

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

  15. 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...

  16. Congenital heat disease

    International Nuclear Information System (INIS)

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

    1990-01-01

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

  17. 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.

  18. 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.

  19. Tomographic and clinical aspects of the central nervous system anomalies associated to the craniofacial congenital changes; Aspectos tomograficos e clinicos das anomalias estruturais do sistema nervoso central associadas as alteracoes congenitas do macico facial

    Energy Technology Data Exchange (ETDEWEB)

    Bellucci, Angela Delete

    1994-12-31

    This work proposes to study people presenting craniofacial congenital anomalies, with or without mental disorders, regardless their association to other anomalies in the body middle line, aiming to verify the central nervous system frequency of concurrence with structural anomalies associated, within the clinic and phenotype spectra of that syndromes. (author). 182 refs., 36 figs.

  20. 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.

  1. Congenital pulmonary vein stenosis.

    Science.gov (United States)

    Manzar, Shabih

    2007-06-01

    A case of a newborn infant is described who presented with severe cyanosis at birth with rapid deterioration. The infant died at six hours of life. The diagnosis was determined at autopsy as congenital pulmonary vein stenosis.

  2. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  3. 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.

  4. Giant congenital nevus

    Science.gov (United States)

    ... nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... the spine) Involvement of the membranes of the brain and spinal cord when the nevus affects a ...

  5. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

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

  6. Congenital CMV Infection, An imaging perspective: A case report.

    Directory of Open Access Journals (Sweden)

    Dr. Nikunj Patel

    2017-12-01

    Full Text Available Brain imaging is most important tool for the accurate diagnosis of various congenital CNS infections. Infections of the foetal nervous system results in spectrum of findings that depends upon the inciting agent and the timing of infection. As a general rule earlier the infection, more severe are the findings. Congenital CMV infection can be diagnosed with accuracy with its specific features identified on brain imaging. We present a case of congenital CMV infection in an 8-months-old boy, its clinical presentation, imaging findings and laboratory reports. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection.

  7. Congenital chylous ascites

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  8. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

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

  9. Congenital gluteus maximus contracture.

    Science.gov (United States)

    Ganel, A; Blankstein, A

    1989-01-01

    Muscle contractures are infrequent in Israel. This report discusses one case of a congenital contracture associated with a skin dimple treated in Israel. A 3-year-old boy presented with difficulty in running, riding a bicycle, and squatting. Flexion of the right hip in adduction was impossible. The hip could be fully flexed in abduction. Congenital contracture of the right gluteus maximus muscle was successfully treated by surgical release.

  10. 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.

  11. Treatment of congenital tuberculosis.

    Science.gov (United States)

    Patel, Sonal; DeSantis, Evelyn R Hermes

    2008-11-01

    The diagnosis and treatment of congenital tuberculosis are discussed. Congenital tuberculosis is rare and fatal if left untreated. If a pregnant woman with tuberculosis is not treated, infection of the fetus can occur by hematogenous spread through the umbilical cord or by aspiration or ingestion of amniotic fluid. Signs and symptoms of congenital tuberculosis may be nonspecific, which may preclude early diagnosis and treatment. Criteria for the diagnosis of congenital tuberculosis require the infant to have a tuberculous lesion, as indicated by chest radiography or granulomas, and at least one of the following should be confirmed: (1) onset during the first week of life, (2) primary hepatic tuberculosis complex or caseating hepatic granulomas, (3) infection of the placenta or maternal genital tract, or (4) exclusion of postnatal transmission by a contact investigation. Since 2001, 21 cases of congenital tuberculosis have been reported in English-language medical journals, with the age of presentation ranging from day 1 to 90. Based on findings from published case reports, congenital tuberculosis should be considered in the differential diagnosis of newborns who have (1) nonresponsive, worsening pneumonia, especially in regions with high rates of tuberculosis, (2) nonspecific symptoms but have a mother diagnosed with tuberculosis, (3) high lymphocyte counts in the cerebrospinal fluid without an identified bacterial pathogen, or (4) fever and hepatosplenomegaly. Once diagnosed, it is essential to promptly begin treatment with isoniazid, rifampin, pyrazinamide, and streptomycin in order to decrease the mortality associated with the infection. Early diagnosis and treatment during the neonatal period are crucial in minimizing the fatality associated with congenital tuberculosis.

  12. Long term ocular and neurological involvement in severe congenital toxoplasmosis

    NARCIS (Netherlands)

    Meenken, C.; Assies, J.; van Nieuwenhuizen, O.; Holwerda-van der Maat, W. G.; van Schooneveld, M. J.; Delleman, W. J.; Kinds, G.; Rothova, A.

    1995-01-01

    This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features

  13. Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ineke Nederend

    2016-04-01

    Full Text Available Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.

  14. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  15. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

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

  16. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  17. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

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

  18. Comparison of Ponseti and Kite's method of treatment for congenital Talipes Equino using the Pirani scoring system.

    Science.gov (United States)

    Kaseke, F; Mudawarima, T

    2013-01-01

    The study was carried out to compare the effectiveness of the Ponseti manipulation versus the Kite's manipulation in the treatment of idiopathic Congenital Talipes Equino Varus (CTEV) as evaluated by the Pirani score. An intervention study, prospective non randomized trial. Hospital based study at three central hospitals namely Harare Central Hospital (HCH), Parirenyatwa Group of Hospitals (PGH) and Chitungwiza Central Hospitals (CCH) in Zimbabwe. Subjects: 38 feet in 25 patients, 13 bilateral and 12 unilateral CTEV deformities in children less than one year of age and without prior manipulation or surgical treatment were purposively allocated to either Ponseti (20 feet) or Kite's method (18 feet) at three central hospitals. There were no dropouts. Participants in two hospitals were managed using the Ponseti method and one hospital managed participants using the kite's method. Baseline Pirani scores were measured before the first treatment was done. Thereafter they were followed up weekly and analysis was done for three and six week outcomes using the Pirani score. Correction was measured by the difference between the baseline hindfoot, midfoot and total scores and the Pirani scores at three weeks and six weeks. Within group analysis of the data was done using a single student t - test and between groups analysis was done using the independent student t - test. Both methods were effective in correcting CTEV deformity. Feet managed by the Ponseti method showed faster rates of decrease in Pirani score (improvement) as compared to feet treated by Kite's method. The between group analysis (Kite Ponseti) at three weeks was -1,4056 (p = 0.0000) [CI = -1.900 to -0.9103] showing a significantly difference between the methods at three weeks. The between group analysis (Kite Ponseti) at six weeks was -2.2302 (p = 0.0000) [CI = -2.9789 to -1.4815] showing a significantly difference between the methods at six weeks. Ponseti management causes faster improvement in CTEV

  19. Congenital disorders of glycosylation: new defects and still counting

    NARCIS (Netherlands)

    Scott, K.; Gadomski, T.; Kozicz, L.T.; Morava, E.

    2014-01-01

    Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present as clinical syndromes, affecting multiple systems including the central nervous system, muscle function, transport, regulation,

  20. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

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

  1. Congenital and neonatal pneumonia.

    Science.gov (United States)

    Nissen, Michael D

    2007-09-01

    The greatest risk of death from pneumonia in childhood is in the neonatal period. It is estimated that pneumonia contributes to between 750000-1.2 million neonatal deaths annually, accounting for 10% of global child mortality. Congenital and neonatal pneumonias are often a difficult disease to identify and treat, with clinical manifestations often being non-specific. Many of the normal lung defences are compromised in the fetus and neonate, leading to an increased susceptibility to infection. The aetiology and epidemiology of congenital and neonatal pneumonias will depend on the clinical setting and population that the baby belongs to, the stage in the perinatal period, the gestational age of the baby and the definition of pneumonia. Diagnosis, treatment and prevention strategies are therefore also dependent on these factors, and will differ depending on the clinical setting. This review summarizes the current knowledge concerning congenital and neonatal pneumonia worldwide and discusses future directions in the prevention of the disease.

  2. The problem of congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    R. A. Ivanova

    2016-01-01

    Full Text Available This paper comprises a review of up-to-date literature devoted to the problem of congenital cytomegalovirus infection, its epidemiology and pathogenesis. The paper includes one report on features and variants of clinical presentation of congenital cytomegalovirus infection and its sequelae, including late-onset complications. We pay attention to the problems related to timely diagnostics of congenital infections during pregnancy and suggest measures that can improve the quality of the survey. The basic aspects of laboratorial verification of cytomegalovirus infection in fetus and newborn are reviewed in the light of peculiarities of the features of the newborns’ immune system. In addition, significant points of etiotropic therapy are emphasized. Principal groups of antiviral drugs are delineated in this review, with proposal for their administration according to the clinical course and sequlae development. Furthermore, in this review we pay attention to the importance of preventive measures for reducing prevalence of cytomegalovirus in pregnant women. In view of its high prevalence among adult population and likelihood of recurrent clinical course in pregnant women, we specifically focus on necessity of further professional development of pediatricians and neonatogists. This necessity is determined by the prevalence of latent course of congenital cytomegalovirus infection, as its diagnostics is frequently retarded and, consequently, provokes development of severe complications. In this paper the indispensability of universal neonatal cytomegalovirus screening embedding is proven. Therefore, this review presents contemporary data about the problem of congenital cytomegalovirus infection and highlights general problems related to timely diagnostics and treatment of intrauterine infections.

  3. Congenital Hemolytic Anemia.

    Science.gov (United States)

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

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

  5. [Congenital spinal malformations].

    Science.gov (United States)

    Ertl-Wagner, B B; Reiser, M F

    2001-12-01

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

  6. Congenital spinal malformations

    International Nuclear Information System (INIS)

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

    2001-01-01

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

  7. Adult congenital heart disease: the patient's perspective.

    Science.gov (United States)

    Verstappen, Amy; Pearson, Disty; Kovacs, Adrienne H

    2006-11-01

    This article presents the adult congenital heart disease (ACHD) patient "voice" by high-lighting issues and challenges commonly identified in peer support forums but rarely addressed in the existing literature. Representative patient quotations are provided, and relevant research on patient education and psychosocial function is referenced. Issues discussed include the provision of overly pessimistic and overly optimistic prognoses, common patient misperceptions and knowledge gaps, frustrations and dangerous encounters in the medical system, and living with invisible disabilities. Patient self-perception of congenital heart disease, the gifts of congenital heart disease, and the role of patient associations are also discussed. For each issue identified, implications for the ACHD health professional are outlined and recommendations for best practices are made.

  8. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  9. Comparison of systemic right ventricular function in transposition of the great arteries after atrial switch and congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Morcos, Michael; Kilner, Philip J; Sahn, David J; Litt, Harold I; Valsangiacomo-Buechel, Emanuela R; Sheehan, Florence H

    2017-12-01

    In patients with transposition of the great arteries corrected by interatrial baffle (TGA) and those with congenitally corrected transposition of the great arteries (ccTGA) the right ventricle (RV) is subjected to systemic pressure and fails prematurely. Previous studies have demonstrated RV dysfunction may be more pronounced in patients with TGA. The present study sought to compare patients with TGA and ccTGA using three-dimensional (3D) techniques to comprehensively analyze the shape, volume, global and regional function in the systemic RV. We compared RV size, shape, and regional and global function in 25 patients with TGA, 17 patients with ccTGA, and 9 normal subjects. The RVs were reconstructed from cardiac Magnetic Resonance Images for 3D analyses. Compared to normal, the RV in TGA and ccTGA was dilated, rounded, and reduced in function. Compared to each other, TGA and ccTGA patients had similar RV size and shape. Global RV function was lower in TGA than ccTGA when assessed from ejection fraction (EF) (30 ± 7 vs. 35 ± 7, p = 0.02) and from normalized tricuspid annular systolic plane excursion (TAPSE) (0.10 ± 0.04 vs. 0.18 ± 0.04, p < 0.01). Basilar RV function was poorer in the TGA patients when compared to ccTGA. The systemic RVs in both TGA and ccTGA are dilated, spherical, and poorly functioning. Compared to ccTGA, TGA RVs have reduced TAPSE and worse basilar hypokinesis.

  10. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Consultative Hemostasis and Thrombosis. Kitchens. S.C., Alving B.M, Kessler C.M. 2nd Edition, 2007,. Saundres Elsevier, Philadelphia, PA, USA. 2. International Registry of Rare Bleeding Disorders website: www.rbdd.org Last accessed on 29th. November 2009. 3. Menache, D. Congenital fibrinogen ...

  11. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at ... with penicillin. The treponemes are as sensitive to penicillin today as they were when this therapy was introduced by. Mahney and Harris in 1934.1 Although congenital syphilis is a potentially preventable disease, it was ...

  12. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    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.”

  13. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital lymphoedema syndrome or an intermediate form between these syndromes. INTRODUCTION.

  14. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  15. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  16. Congenital cystic adenomatoid malformation

    Directory of Open Access Journals (Sweden)

    Kamal M. Alshamiri

    2017-12-01

    Full Text Available Congenital pulmonary airway malformation of the lung is a rare lesion that commonly affects the lower respiratory tract, which manifests as progressive respiratory distress in the neonatal period. This case is highlighted to raise awareness of the variable evolving morphological and radiological appearance of this entity.

  17. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    SUMMARY. A l0-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital ...

  18. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

    2015-09-15

    The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

  19. Epidemiology of congenital heart disease in Brazil

    Directory of Open Access Journals (Sweden)

    Valdester Cavalcante Pinto Júnior

    2015-04-01

    Full Text Available AbstractIntroduction:Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007.Objective:To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes.Methods:The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables.Results:The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498; atrial septal defect (4,693; persistent ductus arteriosus (2,490; pulmonary stenosis (1,431; tetralogy of Fallot (973; coarctation of the aorta (973; transposition of the great arteries (887; and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults.Conclusion:In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration.

  20. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  1. Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?

    NARCIS (Netherlands)

    Hofman, Nynke; Wilde, Arthur A. M.; Kääb, Stefan; van Langen, Irene M.; Tanck, Michael W. T.; Mannens, Marcel M. A. M.; Hinterseer, Martin; Beckmann, Britt-Maria; Tan, Hanno L.

    2007-01-01

    AIMS: Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to

  2. Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: Do we need a scoring system?

    NARCIS (Netherlands)

    Hofman, Nynke; Wilde, Arthur A.M.; Kääb, Stefan; Van Langen, Irene M.; Tanck, Michael W.T.; Mannens, Marcel M.A.M.; Hinterseer, Martin; Beckmann, Britt-Maria; Tan, Hanno L.

    2007-01-01

    Aims: Previously published diagnostic systems, based on ECG analysis and clinical parameters (Schwartz criteria and Keating criteria), have been used to estimate the probability of inherited long QT syndrome (LQTS). Nowadays, a certain diagnosis can often be made by DNA testing. We aimed to

  3. 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.

  4. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    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.)

  5. 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.)

  6. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    Science.gov (United States)

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  7. Congenital syphilis: literature review

    OpenAIRE

    Eduardo Chaida Sonda; Felipe Farias Richter; Graziela Boschetti; Marcela Pase Casasola; Candice Franke Krumel; Cristiane Pimentel Hernandes Machado

    2013-01-01

    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 ...

  8. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    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 ...

  9. 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.

  10. Patient-reported outcomes in adults with congenital heart disease: Inter-country variation, standard of living and healthcare system factors

    NARCIS (Netherlands)

    Moons, Philip; Kovacs, Adrienne H.; Luyckx, Koen; Thomet, Corina; Budts, Werner; Enomoto, Junko; Sluman, Maayke A.; Yang, Hsiao-Ling; Jackson, Jamie L.; Khairy, Paul; Cook, Stephen C.; Subramanyan, Raghavan; Alday, Luis; Eriksen, Katrine; Dellborg, Mikael; Berghammer, Malin; Johansson, Bengt; Mackie, Andrew S.; Menahem, Samuel; Caruana, Maryanne; Veldtman, Gruschen; Soufi, Alexandra; Fernandes, Susan M.; White, Kamila; Callus, Edward; Kutty, Shelby; van Bulck, Liesbet; Apers, Silke

    2018-01-01

    Aims: Geographical differences in patient-reported outcomes (PROs) of adults with congenital heart disease (ConHD) have been observed, but are poorly understood. We aimed to: (1) investigate inter-country variation in PROs in adults with ConHD; (2) identify patient-related predictors of PROs; and

  11. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

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

  12. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  13. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

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

  14. Congenital Anomalies among Live Births

    OpenAIRE

    Vivian Rosa Vázquez Martínez; Cristobal Jorge Torres González; Alina Luisa Díaz Dueñas; Grisel Torres Vázquez; Dariel Diaz Díaz; Rafael de la Rosa López

    2014-01-01

    Background: congenital anomalies contribute significantly to mortality during early stages of life; they are the leading cause of infant death in developed countries.Objective: to determine the characteristics of congenital anomalies among live births. Methods: a descriptive study was conducted in the province of Cienfuegos in 2012. Thirty-seven women who had live-born neonates with congenital anomalies were studied. The variables analyzed were: parental age, skin color, order of birth, famil...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-07-15

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

  16. Congenital Cytomegalovirus Infection: Clinical Outcome

    Science.gov (United States)

    Boppana, Suresh B.; Ross, Shannon A.; Fowler, Karen B.

    2013-01-01

    Congenital cytomegalovirus (CMV) infection is a leading cause of hearing loss and neurologic disabilities in children worldwide. Infants with symptomatic congenital CMV infection at birth are at significantly increased risk for developing adverse long-term outcomes. The vast majority of infants with congenital CMV infection have no clinical findings at birth (asymptomatic infants), and about 10%–15% of these children develop long-term sequelae. Currently, predictors of adverse outcome in asymptomatic congenital CMV infection are not known, and it is important that future studies address this issue. PMID:24257422

  17. Radiologic analysis of congenital limb anomalies

    International Nuclear Information System (INIS)

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

    1994-01-01

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

  18. Congenital toxoplasmosis and prenatal care state programs

    Science.gov (United States)

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

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

    Science.gov (United States)

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

    2009-06-01

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

  20. Congenital diseases and syndromes. An illustrated radiological guide

    International Nuclear Information System (INIS)

    Al-Tubaikh, Jarrah Ali; Sabah Hospital; Reiser, Maximilian F.

    2009-01-01

    Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

  1. Changing Landscape of Congenital Heart Disease.

    Science.gov (United States)

    Bouma, Berto J; Mulder, Barbara J M

    2017-03-17

    Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

  2. Congenital Human Cytomegalovirus Infection and the Enigma of Maternal Immunity.

    Science.gov (United States)

    Britt, William J

    2017-08-01

    Human cytomegalovirus (HCMV) is the most common viral infection acquired by the developing human fetus and can result in damage to the developing central nervous system. Although vaccine development to modify this congenital infection is ongoing, the unique epidemiology of maternal HCMV infections appears discordant with strategies for vaccine development. Several characteristics of congenital HCMV infections suggest that the efficacy of vaccines designed to induce responses similar to those that follow natural infection will be limited. Copyright © 2017 American Society for Microbiology.

  3. Congenital imprinting disorders

    DEFF Research Database (Denmark)

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

    2015-01-01

    their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  4. Congenital nephrotic syndrome.

    Science.gov (United States)

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

    2011-01-01

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

  5. Congenital giant melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Shahla Khan

    2009-07-01

    Full Text Available Nevi are common skin tumors caused by abnormal overgrowth of cells from the epidermal and dermal layers of the skin. Most nevi are benign, but some pre-cancerous nevi must be monitored or removed. The giant congenital nevus is greater than 10 cm in size, pigmented and often hairy. Between 4% and 6% of these lesions will develop into a malignant melanoma. Since approximately 50% of the melanoma develop by the age of two, and 80% by the age of seven, early removal is recommended. The objective of this paper is to present a unique case of giant nevi and their surgical management.

  6. 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......% versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years....... Curettage is a gentle alternative to excision with a lower complication rate and good cosmetic outcome....

  7. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Stocker, J.T., Madewell, J.E. and Drake, R.M.. Congenital cystic adenomatoid malformation of the lung: classification and morphologic spectrum. Hum. Pathol. 1977; 8:155-171. 6. Benjamin, D.R. and Cahill, J.L. Bronchioloalveolar carcinoma of the lung and congenital cystic adenomatoid malformation.

  8. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... between congenital lobar emphysema, congenital cystic adenomatoid malformation and tension pneumothorax on radiography. For this reason, a CT of the chest was carried out and this demonstrated cystic over expansion of the right lung base. Distinguishing between CCAM, especially type. 1, which has ...

  9. Placental histopathology of congenital syphilis.

    Science.gov (United States)

    Sheffield, Jeanne S; Sánchez, Pablo J; Wendel, George D; Fong, David W I; Margraf, Linda R; Zeray, Fiker; McIntire, Donald D; Barton Rogers, Beverly

    2002-07-01

    To evaluate the contribution of placental histopathology to the diagnosis of congenital syphilis. From January 1, 1986, through December 31, 1998, all pregnant women presenting to a large, urban Dallas County labor and delivery unit with untreated syphilis at delivery and who had placental evaluation performed were identified. Women were clinically staged, and the infants were evaluated for congenital syphilis using a standard protocol. Each placenta was evaluated by two independent pathologists. Histologic characteristics of the placenta related to congenital syphilis in live-born and stillborn infants were then analyzed. Sixty-seven women met the study criteria: 33 (49%) stillborn and 18 (27%) live-born infants with congenital syphilis, 15 (22%) uninfected live-born infants, and one uninfected stillborn fetus diagnosed by current criteria. There were no differences between the groups with regard to demographic characteristics, prenatal care, or stage of syphilis. Stillborn infants were more likely to deliver preterm (P gestational age, histopathology revealed necrotizing funisitis, villous enlargement, and acute villitis associated with congenital syphilis. Erythroblastosis was more common in stillborn infants with congenital syphilis than all live-born infants (odds ratio 16, 95% confidence interval 1, 370). The addition of histologic evaluation to conventional diagnostic evaluations improved the detection rate for congenital syphilis from 67% to 89% in live-born infants, and 91% to 97% in stillborn infants. Our results show that histopathologic examination of the placenta is a valuable adjunct to the contemporary diagnostic criteria used to diagnose congenital syphilis.

  10. 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

  11. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  12. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

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

    2014-01-01

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

  13. 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

  14. Congenital Agenesis of the Portal Vein: Case

    International Nuclear Information System (INIS)

    Puerta R, Andres F; Vargas B, Maria C; Gomez, Eduardo

    2011-01-01

    Portal vein agenesis is an uncommon anomaly in which the venous drainage from the intestine and spleen bypasses the liver and drains into the systemic veins through shunts. We report a case of a newborn with a prenatal diagnosis of congenital absence of the portal vein, as well as a medical literature review about the main radiological features of this condition and the different associated venous shunts.

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

    Science.gov (United States)

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

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

  16. Congenital Complete Tracheal Ring in a Neonate: A Case Report

    Directory of Open Access Journals (Sweden)

    Esra ARUN ÖZER

    2017-09-01

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

  17. Congenital abnormalities of the posterior fossa.

    Science.gov (United States)

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

  18. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

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

    1986-01-01

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

  19. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    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.)

  20. 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.)

  1. 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.

  2. Neurobiology of Congenital Amusia.

    Science.gov (United States)

    Peretz, Isabelle

    2016-11-01

    The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. Arsenic in drinking water and congenital heart anomalies in Hungary.

    Science.gov (United States)

    Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

    2014-11-01

    Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted. Copyright © 2014 Elsevier GmbH. All rights reserved.

  5. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... people with congenital hyperinsulinism can also occur after eating. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  6. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  7. Congenital long QT syndrome in children

    Directory of Open Access Journals (Sweden)

    Cerović Ivana

    2016-01-01

    Full Text Available Long QT syndrome (LQTS is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias, resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test. Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype

  8. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    Alorainy, Ibrahim A.

    2006-01-01

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  9. Preventing congenital toxoplasmosis.

    Science.gov (United States)

    Lopez, A; Dietz, V J; Wilson, M; Navin, T R; Jones, J L

    2000-03-31

    Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii. Acute infections in pregnant women can be transmitted to the fetus and cause severe illness (e.g., mental retardation, blindness, and epilepsy). An estimated 400-4,000 cases of congenital toxoplasmosis occur each year in the United States. Of the 750 deaths attributed to toxoplasmosis each year, 375 (50%) are believed to be caused by eating contaminated meat, making toxoplasmosis the third leading cause of foodborne deaths in this country. Toxoplasma can be transmitted to humans by three principal routes: a) ingestion of raw or inadequately cooked infected meat; b) ingestion of oocysts, an environmentally resistant form of the organism that cats pass in their feces, with exposure of humans occurring through exposure to cat litter or soil (e.g., from gardening or unwashed fruits or vegetables); and c) a newly infected pregnant woman passing the infection to her unborn fetus. RECOMMENDATIONSFOR PREVENTION: Toxoplasma infection can be prevented in large part by a) cooking meat to a safe temperature (i.e., one sufficient to kill Toxoplasma); b) peeling or thoroughly washing fruits and vegetables before eating; c) cleaning cooking surfaces and utensils afterthey have contacted raw meat, poultry, seafood, or unwashed fruits or vegetables; d) pregnant women avoiding changing cat litter or, if no one else is available to change the cat litter, using gloves, then washing hands thoroughly; and e) not feeding raw or undercooked meat to cats and keeping cats inside to prevent acquisition of Toxoplasma by eating infected prey. Priorities for research were discussed at a national workshop sponsored by CDC in September 1998 and include a) improving estimates of the burden of toxoplasmosis, b) improving diagnostic tests to determine when a person becomes infected with Toxoplasma, and c) determining the applicability of national screening programs. Many cases of congenital toxoplasmosis can be

  10. CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Matjaž Kopač

    2015-03-01

    Full Text Available Congenital anomalies of the kidney and urinary tract are the commonest congenital anomalies in children, often detected prenatally with ultrasound. This method is useful for assesing the degree of dilatation of the collecting system, structure of the kidney parenchyma, amount of amniotic fluid and urinary bladder. Hydronephrosis is the most common among them. Anomalies can be bilateral or unilateral and different defects may coexist in an individual child. Anomalies of other organs and organ systems are often associated with anomalies of the kidneys and urinary tract, described in numerous syndromes. Congenital anomalies of the kidney and urinary tract can be divided in anomalies of the renal parencyma development, renal embryonic migration and position, cystic kidney diseases and anomalies of the urinary tract (collecting system of the kidneys, ureters, urinary bladder and urethra. They are the commonest cause of end-stage renal disease in children.

  11. Underreporting of congenital rubella in Italy, 2010-2014.

    Science.gov (United States)

    Giambi, Cristina; Bella, Antonino; Filia, Antonietta; Del Manso, Martina; Nacca, Gloria; Declich, Silvia; Rota, Maria Cristina

    2017-07-01

    In accordance with the goals of the World Health Organization Regional Committee for Europe, the Italian national Measles and Rubella Elimination Plan 2010-2015 aimed to reduce the incidence of congenital rubella cases to rubella and rubella in pregnancy is active since 2005. We estimated the degree of underreporting of congenital rubella, performing a capture-recapture analysis of cases detected through two independent sources: the national surveillance system and the national hospital discharge database, in the years 2010-2014. We found that 6 out of 11 cases tracked in the retrospective case-finding from hospital registries had not been notified to the surveillance system, and we estimated a degree of underreporting of 53% for the period 2010-2014. This approach showed to be simple to perform, repeatable, and effective. In order to reduce underreporting, some actions aimed at strengthening surveillance procedures are needed. The adoption on a routine basis of the review of hospital discharge registries for case-finding, monthly zero-reporting, and actions to train and sensitize all the specialists involved in the care of pregnant women and the newborns to notification procedures are recommended. What is Known • In Italy, the incidence of congenital rubella was below the WHO target of 1/100,000 live births in 2005-2015, except for two peaks in 2008 and 2012 (5 and 4/100,000, respectively). • Further efforts are required to improve congenital rubella surveillance so that it is more sensitive and specific. The WHO proposes retrospective case-finding from hospital records as an alternative approach to detect infants with congenital rubella. What is New • Underreporting of congenital rubella in Italy was 53% in 2010-2014. • Hospital discharge registries resulted to be an appropriate source to detect congenital rubella cases.

  12. 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.

  13. 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.

  14. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  15. 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.

  16. 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.

  17. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

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

  18. Congenital dyserythropoietic anemias.

    Science.gov (United States)

    Iolascon, Achille; Russo, Roberta; Delaunay, Jean

    2011-05-01

    Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs. The classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins. Studies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.

  19. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

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

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  20. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  1. Pattern of congenital orthopeadic malformations in an African ...

    African Journals Online (AJOL)

    Conclusion: Congenital talipes equinovarus deformity is the most common congenital orthopaedic malformation in this environment while congenital hip dislocation (CDH) is rare when compared with the Caucasians. Keywords: congenital malformations, orthopaedic, environment. West African Journal of Medicine Vol.

  2. [The possibilities of congenital pathology primary prophylaxis as responsibility of general practitioner in Ukraine].

    Science.gov (United States)

    Hoĭda, N H; Protsiuk, O V; Iashchenko, O B; Lynchak, O V; Tymchenko, O I

    2014-01-01

    The aim was to study some tendencies of congenital pathology primary prophylaxis in context of Governmental measures and general practitioner's activity. The information basis of investigation was made up from foreign and home publications, lawmaking documents and data of questioners. Questioners were filled in by doctors who obtained general practitioner qualification (152 persons). The questioner contained information about sex, age, marital status of future general practitioners. It also contained questions about progress in studies at Medical University, healthy way of life maintenance during pregnancy, understanding of possibility to prevent child birth with congenital malformation, ways of congenital malformations prophylaxis in general practitioner's activity. System approaches to congenital pathology burden reduce started forming. State possibilities are not applied effectively in congenital pathology primary prophylaxis. Doctors who obtain general practitioner qualification understand the importance of healthy way of life and medical and genetic consultation for birth child with congenital malformations preventing. Future general practitioners consider that it is possible to carry out complex of steps for decreasing congenital pathology burden. It is impossible to carry out special congenital malformations prophylaxis programs because of economic situation in Ukraine. At the same time some results could be achieved due to professional activity of general practitioners and carrying out specific preventive measures on the way to decrease of congenital malformations burden.

  3. Congenital pulmonary airway malformation in a 36 year-old female

    OpenAIRE

    Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

  4. Perinatal outcome of obvious congenital malformation as seen at the ...

    African Journals Online (AJOL)

    Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

  5. [Mortality due to congenital malformations in Chile (1969-1997)].

    Science.gov (United States)

    Bedregal, P; Orfali, C; Norero, E; Vercellino, M

    2000-04-01

    Congenital malformations are defined as those structural, metabolic or functional defects found at birth. To study the mortality due to congenital malformations in Chile between 1969 and 1997, their type, individual, temporal and geographic variations. A descriptive analysis of deaths registered by the National Statistics Institute and the Ministry of Health. Means, frequencies, raw and adjusted rates were calculated and inferences for some variables were carried out. Between 1969 and 1997 ther was tendency towards a reduction in rates of mortality due to congenital malformations and an increment in their relative importance. During the period, the risk for chromosome (98%) and osteomuscular (67%) malformations increased. Men and children of less than one year had the higher risk. In 1995, 1167 deaths due to congenital malformations were registered, 90% in children of less than 5 years. Higher risks occurred in urban zones (with a rate of 8.25 per 100,000) in the third region (rate 11.59) and second region (rate 11.2). Most deaths occurred in hospitals (85%). Main causes of death were circulatory system, central nervous system and chromosome malformations. The differences in regional deaths due to congenital malformations suggests specific risks that deserve further study.

  6. Computer-aided surgical planning for congenital aural atresia

    Science.gov (United States)

    Li, Bin; Chen, Dongqing; Smouha, Eric; Liang, Zhengrong

    2000-04-01

    We have designed and implemented a prototype system to aid in the surgical repair of congenital aural atresia. A two- level segmentation algorithm was first developed to separate tissues of similar intensity or low tissue contrast. Then an interactive visualization modular was built to display the labeled tissues. The system allows a 3-stage interactive planning in which positioning, marking and drilling simulates the surgical operation of congenital atresia repair. A voxel-based volume CSG operation was implemented to ensure the efficiency of interactive planning. Six patients with congenital aural atresia underwent virtual planning in preparation for surgery. This technique has proved to be a valuable planning tool, with the potential for virtual representation of the surgical reconstruction.

  7. Congenital syphilis has not disappeared.

    Science.gov (United States)

    Lane, G K; Oates, R K

    1988-02-15

    Thirty-three cases of congenital syphilis that were seen at The Children's Hospital, Camperdown, over a 34-year period were reviewed. Twenty-nine cases were examples of early congenital syphilis, as the patients developed clinical features in the first two years of life, and the other four cases were examples of late congenital syphilis, with the clinical features developing between two years and nine months of age and 10 years of age. Twenty-five patients were symptomatic at the time of admission to hospital. The most common clinical feature on the patient's presentation to hospital was a maculopapular or vesiculobullous skin eruption which occurred in 13 of the infants. Hepatic and splenic enlargement were present in 12 cases, and nine children had the "snuffles". Five of the children died. Patient follow-up occurred in fewer than 40% of cases and three of the children who were followed-up suffer from developmental delay. Congenital syphilis can occur in all social groups but is most common in infants who are premature or are small for gestational age and are born to young, unmarried mothers of low socioeconomic status. The treatment of congenital syphilis is simple and effective although the patients may need to be linked with community-health facilities to assist in their compliance with follow-up appointments.

  8. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1979-12-15

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin

  9. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon

    1979-01-01

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin of great

  10. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive ... 8 links) Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 Genetic Testing Registry: Autosomal recessive congenital ichthyosis ...

  11. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Description Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. ... are unknown. Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more ...

  12. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

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

  13. 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 ...

  14. Congenital rubella syndrome in Iran

    Directory of Open Access Journals (Sweden)

    Eftekhar Hasan

    2005-06-01

    Full Text Available Abstract Background Congenital rubella syndrome (CRS can be prevented with appropriate vaccination programs. The prevalence rates of rubella and CRS in Iran are unknown; therefore, the risk of exposure in pregnant women is not clear. The prevalence of CRS in the pre-vaccine period can be estimated by evaluating the proportion of children in the population with sensorineural hearing loss attributable to rubella. Methods This was a case-control study to estimate prevalence of CRS in Tehran (Iran by evaluating the proportion of children with sensorineural hearing loss attributable to rubella. The study used rubella antibody titer as an indicator, and compared the prevalence of rubella antibody between children with and without sensorineural hearing loss. Using these findings, the proportion of cases of sensorineural hearing loss attributable to rubella was estimated. Results A total of 225 children aged 1 to 4 years were entered into the study (113 cases and 112 controls. There was a significant difference between cases and controls with regard to rubella antibody seropositivity (19.5% vs. 8.9%, respectively, odds ratio = 2.47, 95% CI = 1.04–5.97. The proportion of sensorineural hearing loss cases attributable to rubella was found to be 12%, corresponding to a CRS prevalence of 0.2/1000. Conclusion The prevalence of CRS was approximately 0.2/1000 before rubella vaccination in Iran, Moreover; the results suggest that implementation of appropriate rubella vaccination programs could potentially prevent about 12% of cases of sensorineural hearing loss in Iranian children. This data could potentially be used as baseline data, which in conjunction with an appropriate method, to establish a surveillance system for rubella vaccination in Iran. An appropriate surveillance system is needed, because the introduction of a rubella vaccine without epidemiological data and an adequate monitoring program could result in the shifting of rubella cases to higher

  15. 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...

  16. First 25 years of the Hungarian congenital abnormality registry.

    Science.gov (United States)

    Czeizel, A E

    1997-05-01

    The Hungarian Congenital Abnormality Registry was established in 1962 based on obligatory notification of cases with congenital abnormalities by physicians. However, continuous and expert evaluation of data started in 1970 when the Registry was moved to the National Institute of Public Health. Later several other systems, including the Nationwide Evaluation of Multimalformed Infants, Case-Control Surveillance of Congenital Abnormalities, and Surveillance of Germinal Mutations, were based on the Registry. Data and results of the first 25 years of the Registry are evaluated from three different aspects: 1) evaluation of the originally planned and later adopted missions of the Registry; 2) quality control of the Registry is based on the proportion of misdiagnoses, completeness of notifications, and pathogenetically oriented classification; 3) outcome evaluation indicated the different quality of recorded data in lethal, severe, and mild congenital abnormalities. The data base of the Registry was appropriate to estimate the proportion of preventable congenital abnormalities due to the four different preventive programs and to evaluate the pregnancy outcomes after the Chernobyl nuclear power plant accident.

  17. Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Flavio Mantelli

    2015-01-01

    Full Text Available Neurotrophic keratitis (NK is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

  18. Congenital anomalies of the limbs in mythology and antiquity.

    Science.gov (United States)

    Mavrogenis, Andreas F; Markatos, Konstantinos; Nikolaou, Vasilios; Gartziou-Tatti, Ariadne; Soucacos, Panayotis N

    2018-01-21

    Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these anomalies; however, from the very beginning of civilization the spiritual status of people attempted to find a logical explanation for the existence of such cases. The next logical step of the spiritual and religious system of the ancients was to correlate these anomalies with the Gods and to attribute them to a different level of existence in order to rationalize their existence. In these settings, the mythology and religious beliefs of ancient civilizations comprised several creatures that were related to the observed congenital anomalies in humans. The purpose of this historic review is to summarize the depiction of congenital anomalies of the limbs in mythology and antiquity, to present several mythological creatures with resemblance to humans with congenital anomalies of the limbs, to present the atmosphere of the era concerning the congenital anomalies, and to theorize on the anomaly and medical explanation upon which such creatures were depicted. Our aim is to put historic information in one place, creating a comprehensive review that the curious reader would find interesting and enjoyable.

  19. Neuroimaging in CMV congenital infected neonates: how and when.

    Science.gov (United States)

    Lanari, M; Capretti, M G; Lazzarotto, T; Gabrielli, L; Rizzollo, S; Mostert, M; Manzoni, P

    2012-05-01

    Neonatal congenital infections are an important cause of mortality, morbidity and long-term neurodevelopmental and sensorineural sequelae. Many pathogens can cause in utero infection, and among them, cytomegalovirus (CMV) plays a prominent role. In developed countries, CMV poses major health problems as it is the most common pathogen leading to congenital infection, and the leading cause of nonhereditary deafness in children. Evaluation of central nervous system (CNS) involvement in congenital CMV infected newborns is mandatory to better assess the severity of the disease, to guide adequate treatment, to define prognosis, and to tailor follow-up observations and parents' counselling. Cerebral ultrasonography (cUS), Computed Tomography (CT), and Magnetic Resonance Imaging (MRI) are the currently available techniques to evaluate infants with suspected or proven congenital CMV infection. In congenital CMV infection, their role in early detection and confirmation of cerebral involvement within the first month of life is crucial to initiate specific treatment with antivirals. Neonatologists, paediatricians and radiologists should be aware of the role, the limitations and the inherent risks related to the use of these specific neuroimaging diagnostic tools in these infants. In this article we will discuss from a neonatological perspective the advantages, disadvantages, risks and limitations of each imaging technique. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  20. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

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

  1. MRI of congenital urethroperineal fistula

    International Nuclear Information System (INIS)

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

    2010-01-01

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

  2. Bradyarrhythmias in Congenital Heart Disease.

    Science.gov (United States)

    Carlson, Steven K; Patel, Akash R; Chang, Philip M

    2017-06-01

    Bradyarrhythmias in adults with congenital heart disease (CHD) comprise a complex group of arrhythmia disorders with congenital and acquired origins, highly variable long-term sequelae, and complicated treatment options. They can develop across the spectrum of CHD defects and can be encountered at all ages. Although permanent pacing is effective in treating bradyarrhythmias, it is associated with many complications and morbidity, where it is often used early in life. This section discusses the incidence and prevalence of bradyarrhythmias in the CHD population, their timing of occurrence with respect to specific disease entities and interventions, and their short- and long-term clinical sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. 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.)

  4. Congenital melanocytic nevi management: question

    Directory of Open Access Journals (Sweden)

    Stefania Guida

    2016-03-01

    Full Text Available A 12-year-old girl presented to our attention for a pigmented lesion having greatest diameter of 2.5 cm, located on her left forehead, involving the ipsilateral eyebrow. This lesion had appeared as a flat brown macule at birth. With passing years, the lesion showed an increased diameter and thickness and it became progressively darker.1. What reasons can justify the excision of congenital melanocytic nevi?2. Which treatment do you think would be more appropriate?3. Is there a right age to remove a congenital melanocytic nevus?

  5. On diagnosis of congenital toxoplasmosis

    International Nuclear Information System (INIS)

    Denisova, L.B.; Vorontsova, S.V.; Shvedov, V.A.

    1999-01-01

    Chemical manifestations are considered and CT-semiotics of congenital toxoplasmosis, which can form intracranial calcinates, is described. Taking a certain case of congenital toxoplasmosis observation as an example the potentialities and significance of X-ray computerized tomography (CT) in the identification of brain pathological changes are demonstrated. It is shown that intracranial calcificates may be a sign of toxoplasmosis infection. In case of cytomegalovirus infection the calcificates on CT-scans have mostly periventricular localization. Equally with the revealing of brain status in case of chronic stage of neutrotoxoplasmosis the CT has also played a decisive role in diagnosis of pseudotumoroseus course of ischemic insult [ru

  6. [Congenital Heart Diseases and Sports].

    Science.gov (United States)

    Wippermann, Friederike; Oberhoffer, Renate; Hager, Alfred

    2017-01-01

    Daily activity is essential for children's development. Especially children with congenital heart disease do not burden adequate, even physical activity is beneficial for them. They should get used to activity and individual athletic performance. Once risks are defined or excluded in a cardiological examination, a detailed sports medical examination is recommended to give advice on individual intensity for leisure and school sports activities. By participation in sporting activities with their peers, they will benefit both physically as well as psychologically. Furthermore, children with congenital heart disease are able to experience their performance limitations. © Georg Thieme Verlag KG Stuttgart · New York.

  7. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

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

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

  8. Demographic and Clinical Aspects of Congenital Hypothyroidism ...

    African Journals Online (AJOL)

    Introduction: Congenital hypothyroidism is the most common congenital endocrine disorder worldwide. Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis). Congenital hypothyroidism ...

  9. [Prevalence of congenitial kidney and urinary tract anomalies in neonates and infants with congenital heart disease].

    Science.gov (United States)

    Czarniak, Piotr; Kosiak, Wojciech; Chojnicki, Maciej; Król, Ewa; Zurowska, Aleksandra

    2006-01-01

    Congenital heart diseases are the most frequent anomalies and one of the most important reasons of mortality and morbidity in neonates and infants. Coincidence of additional malformation aggravates prognosis. The frequency of incidence of other anomalies accompanying congenital hart diseases is defined as 11 to 45%. Estimation of the frequency of a coincidence of congenital kidney anomalies on the basis of the ultrasound examination (US) in children with congenital heart disease in first year of life. Abdominal US were done in 350 neonates and infants hospitalized in Department of Pediatric Cardiology Medical University of Gdansk in the first twenty-four hours after diagnosis of congenital heart disease. Examinations were performed in 187 male (53%) and 163 female (47%) in average age 54.9 days (range from 1 to 349 days). In examined population congenital kidney anomalies were found in 4.9% of children from which 18% represent hipoplasia, and another 18% dysplasia. 15.3% of examined patients were diagnosed by dilatation of collecting system, whereof 3% mild, 7% moderate, and 5% severe degree. 1. The frequency of incidence of kidney anomalies and collecting system dilatation in the examined population of neonates and infants with congenital heart disease accounts for 20.2%. 2. Abdominal ultrasound screening with carefully examination of urinary tract should be performed in neonates and infants with congenital heart disease.

  10. 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

  11. [Congenital equinovarus clubfoot].

    Science.gov (United States)

    Seringe, R

    1999-06-01

    A congenital clubfoot is often associated with a neuromuscular disease, a chromosomal anomaly, or a syndrome. The present review will only study the idiopathic clubfoot seen in an otherwise normal child. It is considered nowadays that a clubfoot is secondary to a defect in the spontaneous "rotation-elevation" mechanism which should occur between the 9th and 10th week of fetal development. Several possible factors influence the embryonic development: genetic, neurologic, muscular, environmental, and toxic factors. Modern notions of anatomy and physiology of the foot allow a better understanding of the deformations seen in a clubfoot: calcaneo-forefoot block, talonavicular joint double "belonging", notion of "relative" hindfoot supination. The osteo-articular deformations involve mainly the talus, the calcaneus, the navicular. They are associated to articular stiffness secondary to soft tissue retractions like the posterolateral, anteromedial, and the anterolateral fibrous knots. Prenatal diagnosis can be made using the ultrasound which is usually performed at 20 weeks of gestation. Nevertheless, only the clinical exam at birth will evaluate the degree of severity of the clubfoot based upon its reducibility, the presence of skin creases, and the importance of muscular atrophy. Imaging techniques (especially standard x-ray) are useless diagnostic tools. They will be necessary for the follow-up, the evaluation of residual defects, and for the possible surgical indications. Conservative treatment is used first, and in the hands of experienced teams will give a sufficient correction in 70 to 80% of the patients. The surgical treatment is used to complete the correction obtained by conservative means. Surgical treatment will free the retracted soft tissues. Postoperatively the foot will be immobilized in the appropriate position for 2 to 3 months. Clubfoot treatments are associated with complications which have to be known to avoid them if possible and/or to be able to

  12. Congenital absence of the portal vein presenting as pulmonary hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo [Seoul National University Hospital, Seoul (Korea, Republic of)

    2007-11-15

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension.

  13. Valproate-Induced Congenital Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-07-01

    Full Text Available The risk of congenital malformations in infants of women with epilepsy treated with antiepileptic drugs (AEDs during the first trimester of pregnancy and in those whose mothers had discontinued AEDs before pregnancy was compared in a study at the Universities of Tampere and Oulu, Finland.

  14. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  15. [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.

  16. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  17. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... A case of broncho-oesophageal fistula causing bronchiectasis of the left· lung is reported. Oesophagorespiratory fistulas without atresia of the oesophagus often have an insidious clinical course and most commonly present in adulthood. This rare congenital anomaly should be considered as a cause of ...

  18. Congenital Heart Disease and ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-05-01

    Full Text Available Risk factors for inattention, hyperactivity and impaired school performance were examined in 109 children, 5 to 10 years of age, who had undergone newborn cardiac surgery for complex congenital heart disease (CHD at Children's Hospital of Philadelphia, PA.

  19. Neural Correlates of Congenital Amusia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-10-01

    Full Text Available Magnetic resonance T1-weighted images were analyzed, using voxel-based morphometry (VBM, to detect brain anatomical differences in two independent groups of adults with congenital amusia (or tone-deafness compared to controls with normal pitch perception and no formal musical training.

  20. Severe congenital neutropenia (Kostmann Syndrome)

    African Journals Online (AJOL)

    Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis characterized by ... in the bone marrow; and associated with serious recurrent bacterial infections from early infancy. Sepsis mortality is ... neutrophil elastase ELA2. Myelodysplastic syndrome and acute myeloid leukemia.

  1. Chromosomal study in newborn infants with congenital anomalies in ...

    African Journals Online (AJOL)

    Yasir A. Mohammed

    tory, family history, perinatal history, pedigree construction as well as clinical examinations and investigations including karyotype were done. Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highest. * Corresponding author.

  2. The incidence of apparent congenital urogenital anomalies in North ...

    African Journals Online (AJOL)

    A. Bhat

    2016-07-18

    Jul 18, 2016 ... Prune belly syndrome;. Ambiguous genitalia. Abstract. Introduction and objectives: Over the last few decades, congenital anomalies of the urogenital system have increased globally as a consequence of advanced maternal age at pregnancy and developments in assisted reproductive techniques. The aim ...

  3. Congenital candidiasis as a subject of research in medicine and human ecology.

    Science.gov (United States)

    Skoczylas, Michał M; Walat, Anna; Kordek, Agnieszka; Loniewska, Beata; Rudnicki, Jacek; Maleszka, Romuald; Torbé, Andrzej

    2014-01-01

    Congenital candidiasis is a severe complication of candidal vulvovaginitis. It occurs in two forms,congenital mucocutaneous candidiasis and congenital systemic candidiasis. Also newborns are in age group the most vulnerable to invasive candidiasis. Congenital candidiasis should be considered as an interdisciplinary problem including maternal and fetal condition (including antibiotic therapy during pregnancy), birth age and rare genetic predispositions as severe combined immunodeficiency or neutrophil-specific granule deficiency. Environmental factors are no less important to investigate in diagnosing, treatment and prevention. External factors (e.g., food) and microenvironment of human organism (microflora of the mouth, intestine and genitalia) are important for solving clinical problems connected to congenital candidiasis. Physician knowledge about microorganisms in a specific compartments of the microenvironment of human organism and in the course of defined disorders of homeostasis makes it easier to predict the course of the disease and allows the development of procedures that can be extremely helpful in individualized diagnostic and therapeutic process.

  4. Clinical presentation and management of congenital ptosis

    Directory of Open Access Journals (Sweden)

    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  5. NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

    Science.gov (United States)

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

    2017-08-10

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

  6. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

    2007-01-15

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

  7. Prevalence and distribution of congenital abnormalities in Turkey: differences between the prenatal and postnatal periods.

    Science.gov (United States)

    Oztarhan, Kazim; Gedikbasi, Ali; Yildirim, Dogukan; Arslan, Oguz; Adal, Erdal; Kavuncuoglu, Sultan; Ozbek, Sibel; Ceylan, Yavuz

    2010-12-01

    The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital abnormalities managed in the Neonatology Unit were classified based on the above distribution scheme. During the 5-year study period, 1906 cases with congenital abnormalities were recruited, as follows: 640 prenatally detected and terminated cases, with most abnormalities related to the central nervous system, chromosomes, and urogenital system (56.7%, 12.7%, and 8.9%, respectively); 712 neonates with congenital abnormalities (congenital heart disease [49.2%], central nervous system abnormalities [14.7%], and urogenital system abnormalities [12.9%]); and hospital stillbirths, of which 34.2% had malformations (220 prenatal cases [34.4%] had multiple abnormalities, whereas 188 liveborn cases [26.4%] had multiple abnormalities). The congenital abnormalities rate between 2002 and 2006 was 2.07%. Systematic screening for fetal anomalies is the primary means for identification of affected pregnancies. © 2010 The Authors. Congenital Anomalies © 2010 Japanese Teratology Society.

  8. Congenital malformations in neonates: analysis of morbidity and associated factors

    Directory of Open Access Journals (Sweden)

    Rosana Alves de Melo

    2017-06-01

    Full Text Available Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc. The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenital malformations were recorded in the study period, with 2011 being the highest occurrence year. The mothers of the newborns were young (25.2 years old, single, upper level of education and household. In general multiparous, with single gestation, vaginal delivery and performed up to six prenatal visits. The newborns were males, at 39 weeks or more of gestation and with normal weight (> = 2500g. The malformations of the musculoskeletal system were the most frequent followed by the genitourinary system. Congenital malformations were especially associated with neonatal characteristics such as gender and weight. In all causes the mean weight was greater than 2500g (p 0.05. Conclusion: The present study evidenced relevant aspects in the occurrence of morbidities due to congenital malformations, directing to a greater attention the occurrence of these diseases especially in relation to the newborn.

  9. Congenital visual pathway abnormalities : A window onto cortical stability and plasticity

    NARCIS (Netherlands)

    Hoffmann, Michael B.; Dumoulin, Serge O.|info:eu-repo/dai/nl/314406514

    2015-01-01

    Sensory systems project information in a highly organized manner to the brain, where it is preserved in maps of the sensory structures. These sensory projections are altered in congenital abnormalities, such as anophthalmia, albinism, achiasma, and hemihydranencephaly. Consequently, these

  10. Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S.; Angarita, M.; Triana, G.

    2004-01-01

    Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

  11. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

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

    2014-11-01

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

  12. Ophthalmic Manifestations of Congenital Zika Syndrome in Colombia and Venezuela.

    Science.gov (United States)

    Yepez, Juan B; Murati, Felipe A; Pettito, Michele; Peñaranda, Carlos F; de Yepez, Jazmin; Maestre, Gladys; Arevalo, J Fernando

    2017-05-01

    The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed. To report the ocular manifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela. This prospective case series included 43 patients from 2 ophthalmic centers in Colombia and Venezuela who underwent evaluation from October 1, 2015, through June 30, 2016, and were clinically diagnosed with congenital Zika syndrome. Twenty patients were Hispanic; 13, African; 8, white; and 2, Native American. Ophthalmic and systemic evaluations and serologic testing were performed on all infants. Patients underwent external ocular examination and dilated ophthalmoscopy. Serologic testing ruled out toxoplasmosis, rubella, cytomegalovirus, syphilis, and human immunodeficiency virus. Ophthalmic manifestations of congenital Zika syndrome. Of the 43 patients included in this series (28 female and 15 male), the mean (SD) age at examination was 2.1 (1.5) months. The mothers of all the children had no ophthalmic findings and did not report ocular symptoms during pregnancy. All patients had bilateral ophthalmic manifestations. Optic nerve findings included hypoplasia with the double-ring sign, pallor, and increased cup-disc ratio in 5 patients (11.6%). Macular abnormalities included mild to severe pigment mottling in 27 patients (63%) and lacunar maculopathy in 3 (6.9%). Chorioretinal scarring was present in 3 patients (7%). Eleven patients (26%) had a combination of lesions in the posterior pole. Five patients (12%) were

  13. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

    Science.gov (United States)

    Todd, Emily S; Scott, Nicole M; Weese-Mayer, Debra E; Weinberg, Seth M; Berry-Kravis, Elizabeth M; Silvestri, Jean M; Kenny, Anna S; Hauptman, Susan A; Zhou, Lili; Marazita, Mary L

    2006-08-01

    Individuals with congenital central hypoventilation syndrome have characteristic variants in the PHOX2B gene (primarily polyalanine expansion mutations). The PHOX2B gene acts as a transcriptional activator in the promotion of pan-neuronal differentiation in the autonomic nervous system during early embryologic development, with a primary role in the sympathetic noradrenergic phenotype in vertebrates. Because sympathetic innervation has been hypothesized to affect the development of dermatoglyphic pattern types, we hypothesized that individuals with PHOX2B-confirmed congenital central hypoventilation syndrome would have characteristic dermatoglyphic patterning and that the dermatoglyphic phenotype would be related to the disease-defining PHOX2B genotype. Dermatoglyphic pattern type frequency, left/right symmetry, and genotype/phenotype correlation were assessed for 33 individuals with PHOX2B-confirmed congenital central hypoventilation syndrome and compared with published control data. Dermatoglyphic pattern type frequencies were altered in congenital central hypoventilation syndrome cases versus controls. In particular, there was an increase of arches in females and ulnar loops in males, with the largest differences for the left hand and for individuals with both congenital central hypoventilation syndrome and Hirschsprung disease. Dissimilarity scores between the congenital central hypoventilation syndrome and congenital central hypoventilation syndrome + Hirschsprung disease cases were not significantly different, nor were dissimilarity scores between all of the female and all of the male cases. No significant association was found between the number of polyalanine repeats in the PHOX2B genotypic category and dermatoglyphic pattern frequencies in the congenital central hypoventilation syndrome study groups. These results represent the first report describing specific dermatoglyphic patterning in congenital central hypoventilation syndrome and suggest a

  14. Congenital chloride diarrhea: late presentation

    Directory of Open Access Journals (Sweden)

    Al Bishi L

    2011-04-01

    Full Text Available Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to control the electrolyte imbalance. The disease was difficult to control for a year after diagnosis. Late presentation is associated with severe chronic electrolyte disturbances and high-dose replacement therapy.Keywords: congenital chloride diarrhea, hypokalemic hypochloremic metabolic alkalosis, high stool chloride

  15. Pulmonary abscesses in congenital syphilis.

    Science.gov (United States)

    Bell, Carrie; Taxy, Jerome

    2002-04-01

    Congenital syphilis remains a public health concern in the United States. Infants whose mothers are treated in the third trimester without adequate prenatal care have an increased risk of morbidity and mortality in the immediate perinatal period. The identification of Treponema pallidum in tissue is definitive confirmation of infection. We report the case of a 32-week gestational age infant born to a mother treated for syphilis 7 days prior to delivery. The infant died 12.5 hours after birth. At autopsy, there was extensive acute hyaline membrane disease. In addition, there were bilateral pulmonary abscesses with spirochetes. The onset of maternal disease was unknown, but was probably early in or prior to the pregnancy. This is an unusual case of pulmonary involvement in congenital syphilis.

  16. 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.

  17. Congenital chloride diarrhea: late presentation

    OpenAIRE

    Al Bishi, Laila; Mustafa,

    2011-01-01

    Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to...

  18. Congenital neuroblastoma with placental involvement

    OpenAIRE

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks’ gestation developed hydrops fetalis by 26 weeks’ gestation. The mother developed hypertension at 26 5/7 weeks’ gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a soli...

  19. Congenital adrenal hyperplasia: Case report.

    OpenAIRE

    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  20. Congenital Deafness Reduces, But Does Not Eliminate Auditory Responsiveness in Cat Extrastriate Visual Cortex.

    Science.gov (United States)

    Land, Rüdiger; Radecke, Jan-Ole; Kral, Andrej

    2018-04-01

    Congenital deafness not only affects the development of the auditory cortex, but also the interrelation between the visual and auditory system. For example, congenital deafness leads to visual modulation of the deaf auditory cortex in the form of cross-modal plasticity. Here we asked, whether congenital deafness additionally affects auditory modulation in the visual cortex. We demonstrate that auditory activity, which is normally present in the lateral suprasylvian visual areas in normal hearing cats, can also be elicited by electrical activation of the auditory system with cochlear implants. We then show that in adult congenitally deaf cats auditory activity in this region was reduced when tested with cochlear implant stimulation. However, the change in this area was small and auditory activity was not completely abolished despite years of congenital deafness. The results document that congenital deafness leads not only to changes in the auditory cortex but also affects auditory modulation of visual areas. However, the results further show a persistence of fundamental cortical sensory functional organization despite congenital deafness. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  1. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

    2017-12-15

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  2. Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

    International Nuclear Information System (INIS)

    Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

    2017-01-01

    Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

  3. Congenital uronephropathy pattern in children

    Directory of Open Access Journals (Sweden)

    Husein Alatas

    2001-10-01

    Full Text Available To obtain the basic data of congenital uronephropathy pattern and the affecting factors in children, we conducted a cross-sectional study at the Department of Child Health Cipto Mangunkusumo (CM Hospital Jakarta from 1995 to 1999 and 9 teaching hospitals throughout Indonesia. During the study period 134 patients were obtained, 116 patients from the CM Hospital and 18 patients from other teaching hospitals. Most patients (48.8% were below 1 year of age; male were affected more than female (2.4:1. The disorder was classified into two groups, i.e., congenital nephropathy and uropathy. There were 10 children with nephropathy, i.e., 4 with unilateral renal hypoplasia, 3 with polycystic kidney, and 3 with renal agenesis. In the uropathy group, 43 were with hypospadia, 22 with primary reflux vesicoureter, 18 with neurogenic bladder, and 17 with ureteropelvic junction obstruction. The complications found were urinary tract infection (71.2%, chronic renal failure (15.7%, hypertension (3.7%, and acute renal failure (1.5%. Consanguinity, familial disorders, maternal diseases, x-ray exposure and abortion efforts were found in a small proportion of patients. History of drug or herbs use in the first trimester of pregnancy was found in a large proportion of patients, mostly took analgesics (especially acetaminophen. In conclusion, uropathy disorders were much more common than congenital nephropathy. The most common complication was urinary tract infection, followed by chronic renal failure, hypertension, and acute renal failure.

  4. [Congenital syphilis: incidence among newborns

    Science.gov (United States)

    Araújo, E C; Moura, E F; Ramos, F L; Holanda, V G

    1999-01-01

    OBJECTIVE: To determine the incidence of congenital syphilis among newborns at the maternity of a public hospital. METHODS: The study was conducted at the maternity of Fundação Santa Casa de Misericórdia do Pará, from May to September 1996; 361 mothers were interviewed, and physical examination was performed in their newborns. Serum samples from both, mothers and neonates, were tested using three methods: VDRL, FTA - Abs, ELISA IgM. The diagnosis of congenital syphilis was established according to the criteria defined by Ministério da Saúde in 1993. RESULTS: The rate of congenital syphilis was of 9.1% (33); in 14 cases, there were one or more signs of the disease: prematurity, hepatomegaly, stillbirth, splenomegaly, perinatal death, abdominal distention, nasal stuffiness, jaundice, newborn small for gestational age. The majority of the infected mothers belonged to the age group of 20-35 years (81.8%); 60.6% were married; 63.6% received prenatal care; 48.5% reported previous spontaneous abortion, and 12.1% previous stillbirth. The rate of bisexuality among fathers was of 9.1%. CONCLUSION: The syphilis control measures and the prenatal care, have not been sufficient to prevent the high rate of the disease.

  5. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude

    2014-01-01

    seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 million births. Analysis was performed by estimated month of conception. Analyses were performed for 86 congenital anomaly subgroups, including a combined subgroup of congenital anomalies previously associated......%), 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...

  6. 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...

  7. Congenital esophageal stenosis owing to tracheobronchial remnants

    OpenAIRE

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde Filho, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomos...

  8. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  9. 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.)

  10. Congenital Zika syndrome and neuroimaging findings: what do we know so far?

    Science.gov (United States)

    Ribeiro, Bruno Niemeyer de Freitas; Muniz, Bernardo Carvalho; Gasparetto, Emerson Leandro; Ventura, Nina; Marchiori, Edson

    2017-01-01

    Although infection with the Zika virus was first recognized in 1942, it received little attention until 2007, when a true pandemic spread throughout Africa, Asia, and the Americas. Since then, numerous forms of central nervous system involvement have been described, mainly malformations related to congenital infection. Although the neuroimaging findings in congenital Zika syndrome are not pathognomonic, many are quite suggestive of the diagnosis, and radiologists should be prepared to interpret such findings accordingly. The objective of this article is to review the computed tomography and magnetic resonance imaging findings in congenital Zika syndrome.

  11. Congenital Zika syndrome and neuroimaging findings: what do we know so far?

    Directory of Open Access Journals (Sweden)

    Bruno Niemeyer de Freitas Ribeiro

    Full Text Available Abstract Although infection with the Zika virus was first recognized in 1942, it received little attention until 2007, when a true pandemic spread throughout Africa, Asia, and the Americas. Since then, numerous forms of central nervous system involvement have been described, mainly malformations related to congenital infection. Although the neuroimaging findings in congenital Zika syndrome are not pathognomonic, many are quite suggestive of the diagnosis, and radiologists should be prepared to interpret such findings accordingly. The objective of this article is to review the computed tomography and magnetic resonance imaging findings in congenital Zika syndrome.

  12. [Tracheobronchial and pulmonary parenchymatous congenital abnormalities requiring surgical treatment in adults].

    Science.gov (United States)

    Mordant, P; De Dominicis, F; Berna, P; Riquet, M

    2012-04-01

    Most tracheobronchial and parenchymatous congenital abnormalities of the respiratory system are diagnosed in early life. However, some lesions may be initially silent and diagnosed only in adulthood. These cases included congenital abnormalies of the tracheobronchial tract (tracheal and/or bronchial stenosis, bronchogenic cysts, bronchial atresia, oesotracheal fistula, oesobronchial fistula, and tracheal diverticulum), and lung parenchyma itself (pulmonary sequestration, congenital cystic adenomatoïd malformation, lobar emphysema, lobar or lung hypoplasia). To avoid dreadful complications, these rare cases deserve surgical management, and must be known by chest physicians and surgeons. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  13. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

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

  14. Drug safety in pregnancy--monitoring congenital anomalies.

    Science.gov (United States)

    Morgan, Margery; De Jong-van den Berg, Lolkje T W; Jordan, Sue

    2011-04-01

    This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored to prevent anything similar happening again. However, monitoring is incomplete and questions remain unanswered. Many medicines are essential for the health of pregnant women. However, drug use in pregnancy requires surveillance. Methods include spontaneous reporting of adverse events, cohort studies and case control studies. It is hoped that a Europe-wide study, combining data from several congenital anomaly registers, will provide a sufficiently large population to assess the impact of selected drugs on congenital anomalies. However, this work depends on the consistency of reporting by nurses and midwives. Drug safety in pregnancy remains undetermined. Collaboration across Europe has the potential to provide a framework for safety evaluation. Prescribers should consider the possibility of pregnancy in women of child-bearing age. Careful review of maternal drug use in early pregnancy is essential. Midwives and nurses should be aware of adverse event drug reporting systems, including congenital anomaly registers. © 2011 The Authors. Journal compilation © 2011 Blackwell Publishing Ltd.

  15. Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

    Science.gov (United States)

    Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

    2017-03-01

    Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

  16. Using scan statistics for congenital anomalies surveillance: the EUROCAT methodology.

    Science.gov (United States)

    Teljeur, Conor; Kelly, Alan; Loane, Maria; Densem, James; Dolk, Helen

    2015-11-01

    Scan statistics have been used extensively to identify temporal clusters of health events. We describe the temporal cluster detection methodology adopted by the EUROCAT (European Surveillance of Congenital Anomalies) monitoring system. Since 2001, EUROCAT has implemented variable window width scan statistic for detecting unusual temporal aggregations of congenital anomaly cases. The scan windows are based on numbers of cases rather than being defined by time. The methodology is imbedded in the EUROCAT Central Database for annual application to centrally held registry data. The methodology was incrementally adapted to improve the utility and to address statistical issues. Simulation exercises were used to determine the power of the methodology to identify periods of raised risk (of 1-18 months). In order to operationalize the scan methodology, a number of adaptations were needed, including: estimating date of conception as unit of time; deciding the maximum length (in time) and recency of clusters of interest; reporting of multiple and overlapping significant clusters; replacing the Monte Carlo simulation with a lookup table to reduce computation time; and placing a threshold on underlying population change and estimating the false positive rate by simulation. Exploration of power found that raised risk periods lasting 1 month are unlikely to be detected except when the relative risk and case counts are high. The variable window width scan statistic is a useful tool for the surveillance of congenital anomalies. Numerous adaptations have improved the utility of the original methodology in the context of temporal cluster detection in congenital anomalies.

  17. Congenital Cytomegalovirus Infection: New Prospects for Prevention and Therapy

    Science.gov (United States)

    Swanson, Elizabeth C.; Schleiss, Mark R.

    2013-01-01

    SYNOPSIS Cytomegalovirus (CMV) is the most common congenital viral infection in the developed world, with an overall birth prevalence of approximately 0.6%. Approximately 10% of congenitally infected infants have signs and symptoms of disease at birth, and these symptomatic infants have a high risk for demonstration of subsequent neurologic sequelae, including sensorineural hearing loss (SNHL), mental retardation, microcephaly, development delay, seizure disorders, and cerebral palsy. Antiviral therapy of children with symptomatic central nervous system (CNS) congenital CMV infection is effective at reducing the risk of long-term disabilities and should be offered to families with affected newborns. An effective pre-conceptual vaccine against CMV could, by preventing congenital infection, protect against long-term neurological sequelae and other disabilities. A variety of active and passive immunization strategies are in clinical trials and are likely to be licensed in the next few years. Until a vaccine is licensed, preventive strategies aimed at reducing transmission should be emphasized and public awareness increased, particularly among women of child-bearing age. PMID:23481104

  18. Overview of adult congenital heart transplants

    Science.gov (United States)

    Morales, David

    2018-01-01

    Transplantation for adult patients with congenital heart disease (ACHD) is a growing clinical endeavor in the transplant community. Understanding the results and defining potential high-risk patient subsets will allow optimization of patient outcomes. This review summarizes the scope of ACHD transplantation, the mechanisms of late ventricular dysfunction, the ACHD population at risk of developing heart failure, the indications and potential contraindications for transplant, surgical considerations, and post-transplant outcomes. The findings reveal that 3.3% of adult heart transplants occur in ACHD patients. The potential mechanisms for the development of late ventricular dysfunction include a morphologic systemic right ventricle, altered coronary perfusion, and ventricular noncompaction. The indications for transplant in ACHD patients include systemic ventricular failure refractory medical therapy, Fontan patients failing from chronic passive pulmonary circulation, and progressive cyanosis leading to functional decline. Transplantation in ACHD patients can be quite complex and may require extensive reconstruction of the branch pulmonary arteries, systemic veins, or the aorta. Vasoplegia, bleeding, and graft right ventricular dysfunction can complicate the immediate post-transplant period. The post-transplant operative mortality ranges between 14% and 39%. The majority of early mortality occurs in ACHD patients with univentricular congenital heart disease. However, there has been improvement in operative survival in more contemporary studies. In conclusion, the experience with cardiac transplantation for ACHD patients with end-stage heart failure is growing, and high-risk patient subsets have been defined. Significant strides have been made in developing evidence-based guidelines of indications for transplant, and the intraoperative management of complex reconstruction has evolved. With proper patient selection, more aggressive use of mechanical circulatory support

  19. 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

  20. Maternal age-associated congenital anomalies among newborns: a retrospective study in Latvia.

    Science.gov (United States)

    Zīle, Irisa; Villeruša, Anita

    2013-01-01

    In Latvia, the mean age of women giving birth increased from 27.3 in 2000 to 29.0 years in 2010 during the last 11 years. The aim of this study was to report on major congenital anomalies of newborns at birth by the maternal age and to compare the mean maternal age by different diagnosis subgroups and maternal and neonatal characteristics. A cross-sectional retrospective study with the data from the Medical Birth Register (2000-2010) was carried out. The live birth prevalence rate was calculated for the subgroups of major congenital anomalies per 10 000 live births by the maternal age. The live birth prevalence rate of major congenital anomalies during the period 2000-2010 was 211.4 per 10 000 live births. The prevalence rate increased depending on the maternal age. Congenital heart defects, limb defects, and urinary system anomalies were the most common anomalies. The study results showed an age-related risk of abdominal wall defects, orofacial clefts, and chromosomal anomalies. There were significantly higher proportions of preterm births, newborns with low birth weight, and complications during pregnancy among mothers aged 35 years and more. The data on congenital anomalies from the Latvian Medical Birth Register can be used for the assessment of epidemiology of congenital anomalies. The results of this retrospective study showed a decrease in the live birth prevalence rate of major congenital anomalies despite an increase in the mean age of mothers in Latvia.

  1. Congenital Fibrosis of the Extraocular Muscles

    Directory of Open Access Journals (Sweden)

    Leyla Niyaz

    2014-08-01

    Full Text Available Congenital fibrosis of the extraocular muscles (CFEOM is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type 1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause of muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5

  2. [Congenital medulloblastoma associated with intracranial arachnoid cyst].

    Science.gov (United States)

    Gelabert González, Miguel; Serramito-García, Ramón; Liñares Paz, Mercedes; Aran-Echabe, Eduardo; García-Allut, Alfredo

    2014-01-01

    Arachnoid cysts are very common lesions in paediatric patients, with treatment depending on their location and symptomatology. They are usually solitary cysts but may be associated with other central nervous system diseases such as tumours and congenital deformities. We describe the case of a neonate diagnosed with an arachnoid cyst of the quadrigeminal cistern treated by endoscopy. After the operation, the child's condition worsened; a CT scan revealed a midline posterior fossa tumour not visible in the preoperative neuroradiological tests. The tumour, a medulloblastoma, was partially removed. Given the child's age and the poor prognosis, oncological treatment was not undertaken. The association between medulloblastoma and arachnoid cyst is very rare, and we could find only one such case in the literature. Copyright © 2012 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  3. Congenital vascular malformations in scintigraphic evaluation

    International Nuclear Information System (INIS)

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

  4. Congenital and childhood atrioventricular blocks: pathophysiology and contemporary management.

    Science.gov (United States)

    Baruteau, Alban-Elouen; Pass, Robert H; Thambo, Jean-Benoit; Behaghel, Albin; Le Pennec, Solène; Perdreau, Elodie; Combes, Nicolas; Liberman, Leonardo; McLeod, Christopher J

    2016-09-01

    Atrioventricular block is classified as congenital if diagnosed in utero, at birth, or within the first month of life. The pathophysiological process is believed to be due to immune-mediated injury of the conduction system, which occurs as a result of transplacental passage of maternal anti-SSA/Ro-SSB/La antibodies. Childhood atrioventricular block is therefore diagnosed between the first month and the 18th year of life. Genetic variants in multiple genes have been described to date in the pathogenesis of inherited progressive cardiac conduction disorders. Indications and techniques of cardiac pacing have also evolved to allow safe permanent cardiac pacing in almost all patients, including those with structural heart abnormalities. Early diagnosis and appropriate management are critical in many cases in order to prevent sudden death, and this review critically assesses our current understanding of the pathogenetic mechanisms, clinical course, and optimal management of congenital and childhood AV block. • Prevalence of congenital heart block of 1 per 15,000 to 20,000 live births. AV block is defined as congenital if diagnosed in utero, at birth, or within the first month of life, whereas childhood AV block is diagnosed between the first month and the 18th year of life. As a result of several different etiologies, congenital and childhood atrioventricular block may occur in an entirely structurally normal heart or in association with concomitant congenital heart disease. Cardiac pacing is indicated in symptomatic patients and has several prophylactic indications in asymptomatic patients to prevent sudden death. • Autoimmune, congenital AV block is associated with a high neonatal mortality rate and development of dilated cardiomyopathy in 5 to 30 % cases. What is New: • Several genes including SCN5A have been implicated in autosomal dominant forms of familial progressive cardiac conduction disorders. • Leadless pacemaker technology and gene therapy for

  5. ELECTROPHYSIOLOGICAL SUBSTANTIATION OF EFFICACY OF CONGENITAL CLUBFOOT SURGICAL TREATMENT

    Directory of Open Access Journals (Sweden)

    I. Y. Klychkova

    2012-01-01

    Full Text Available Purpose - a complex assessment of the neuromuscular apparatus in different age groups of children with congenital clubfoot before and after surgery. Material and methods. The study included 80 patients (23 girls and 57 boys with moderate and severe congenital clubfoot between the ages of 0 to 18 years. In 46% of patients a bilateral lesion was noted, in 54% - unilateral. All patients who received surgical treatment tendon-muscle plasty by the Sturm-Zatsepin method, modified in the Turner Institute, were carried out. Long-term results of surgical treatment were investigated in terms of 1 to 5 years. Neurophysiological studies were carried out on a multi-channel computer complex "Neuro-MEP-4" (Russia. Contractive ability of the tibial, peroneal, and gastrocnemius muscles of lower leg was assessed by global electromyography (EMG for the affected and healthy sides. In order to receive the normal age indexes of electrogenesis the identical study was conducted in 30 subjects in each age group without pathology of the lower extremities. Results. Significant abnormalities of the functional state of the neuro-muscular system in shin were revealed in patients with congenital clubfoot. The analysis of the EMG results in patients admitted for conservative treatment (group 1 showed that in unilateral disease there is a decrease of electrical activity of leg muscles on the affected side. If bilateral symmetrical lesions observed decreasing of muscle electrogenesis were noted compared with the age norm. There are quantitative and qualitative changes in electrogenesis, which are characterized by secondary changes in the muscles on the background of segmental abnormalities. After surgical intervention in patients 0-3 years the positive dynamics of the neuro-muscular functional state of the shin was achieved, which allows to recommend surgical treatment of congenital clubfoot in children in age till three years. Revealed violations of the conductivity on the

  6. Tumor disease and associated congenital abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  7. Congenital Zika Syndrome: Characterizing the Pattern of Anomalies for Pediatric Healthcare Providers

    Science.gov (United States)

    Moore, Cynthia A.; Staples, J. Erin; Dobyns, William B.; Pessoa, André; Ventura, Camila V.; da Fonseca, Eduardo Borges; Ribeiro, Erlane Marques; Ventura, Liana O.; Neto, Norberto Nogueira; Arena, J. Fernando; Rasmussen, Sonja A.

    2017-01-01

    Importance Zika virus infection can be passed prenatally from a pregnant woman to her fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full spectrum of anomalies has not been delineated. To inform pediatric healthcare providers who may be called upon to evaluate and manage affected infants and children, we review the most recent evidence to better characterize congenital Zika syndrome. Observations We reviewed published reports of congenital anomalies occurring in fetuses or infants with presumed or laboratory-confirmed intrauterine Zika virus infection. Congenital anomalies were considered in the context of the presumed pathogenetic mechanism related to the neurotropic properties of the virus. We conclude that congenital Zika syndrome is a recognizable pattern of structural anomalies and functional disabilities secondary to central and perhaps peripheral nervous system damage. Although many of the components of this syndrome such as cognitive, sensory and motor disabilities are shared by other congenital infections, there are five features that are rarely seen with other congenital infections or are unique to congenital Zika virus infection: severe microcephaly with partially collapsed skull; thin cerebral cortices with subcortical calcifications; macular scarring and focal pigmentary retinal mottling; congenital contractures; and marked early hypertonia and symptoms of extrapyramidal involvement. Conclusions and Relevance Although the full spectrum of adverse reproductive outcomes caused by Zika virus infection is not yet determined, a distinctive phenotype, the congenital Zika syndrome, has emerged. Recognition of this phenotype by healthcare providers for infants and children can help ensure appropriate etiologic evaluation as well as comprehensive clinical investigation to define the range of anomalies in an affected infant and determine essential follow

  8. Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

    Science.gov (United States)

    Brodsky, Michael C; Turan, Kadriye Erkan; Khanna, Cheryl L; Patton, Alice; Kirmani, Salman

    2014-08-01

    We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  9. Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

    OpenAIRE

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

  10. Pitch perception and production in congenital amusia: Evidence from Cantonese speakers

    OpenAIRE

    Liu, Fang; Chan, Alice H. D.; Ciocca, Valter; Roquet, Catherine; Peretz, Isabelle; Wong, Patrick C. M.

    2016-01-01

    This study investigated pitch perception and production in speech and music in individuals with congenital amusia (a disorder of musical pitch processing) who are native speakers of Cantonese, a tone language with a highly complex tonal system. Sixteen Cantonese-speaking congenital amusics and 16 controls performed a set of lexical tone perception, production, singing, and psychophysical pitch threshold tasks. Their tone production accuracy and singing proficiency were subsequently judged by ...

  11. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

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

  12. Congenital uveal melanoma?

    Science.gov (United States)

    Singh, Arun D; Schoenfield, Lynn A; Bastian, Boris C; Aziz, Hassan A; Marino, Meghan J; Biscotti, Charles V

    2016-01-01

    A 3-month-old infant with a white mother and Asian father presented with discoloration and prominence of the left eye since birth. Examination revealed a normal right eye. The left eye had hyperchromic heterochromia and an enlarged cornea (diameter, 13.0 mm) with intraocular pressure of 26 mm Hg. There were multiple areas of subconjunctival nodular pigmentation that extended posteriorly into the superior fornix. Fundus examination showed a large ciliochoroidal pigmented mass extending from 10:30 to 3:00 o'clock position involving the superior half of the choroid and adjacent ciliary body. The eye was enucleated, confirming the diagnosis of diffuse uveal melanoma with extraocular extension. Systemic surveillance (hepatic panel and ultrasonography of the liver) performed every 6 months for 5 years was has been negative for metastases. The tumor was investigated intensively for the panel of genes (BAP1, BRAF, NRAS12, NRAS61, GNAQ, Kit 9,11,13,17,18) implicated in pathogenesis of blue nevus, cutaneous melanoma, and mucosal melanomas with negative results. Moreover, germline BAP1 mutation could not be identified. This case possibly represents as yet unidentified uveal melanocytic proliferation rather than a true variant of uveal melanoma. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Risk factors for congenital hydrocephalus

    DEFF Research Database (Denmark)

    Munch, Tina Noergaard; Rasmussen, Marie-Louise Hee; Wohlfahrt, Jan

    2014-01-01

    OBJECTIVES: To investigate the associations between isolated congenital hydrocephalus (CHC) and maternal characteristics, maternal medical diseases, and medicine intake during pregnancy as well as birth characteristics of the child in a retrospective, register-based, nationwide cohort study...... of medicine during pregnancy from the National Prescription Drug Register, and birth characteristics of the child from the Danish National Birth Register. Rate ratios (RR) of isolated and syndromic CHC with 95% CI were estimated using log-linear Poisson regression. RESULTS: In a cohort of 1928666 live...

  14. Infective causes of congenital anomalies

    OpenAIRE

    Garcia, Aparecida Gomes Pinto

    1981-01-01

    Revisão sumária das causas infecciosas das anomalias congênitas englobando as malformações, que correspondem a estruturas anormais orgânicas ou tissulares decorrentes de erros primários de morfogenese embrionaria e deformações, que se instalam no período fetal da vida intrauterina, correspondentes a alterações de forma e estrutura de órgãos primitivamente bem constituidos.Review of the infective causes of Congenital Anomalies, including Malformations, which arise during the embryonic period a...

  15. Laboratory Diagnosis of Congenital Toxoplasmosis

    Science.gov (United States)

    Pomares, Christelle

    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 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. PMID:27147724

  16. Schizencephaly/congenital cerebral clefts

    International Nuclear Information System (INIS)

    Friedman, H.; Naidich, T.P.

    1987-01-01

    Schizencephaly (from the Greek meaning ''split brain''), is a term developed in the 1940s to explain symmetric clefts in the brain seen at autopsy in children with histories of severe neurologic defects. Use of the term has been expanded to include a variety of cerebral clefts. A review of the experience at Children's Memorial Hospital as well as case materials made available to the authors are presented, including CT, MR imaging, and US findings. Theories of etiology and pathogenesis of these congenital clefts, associated anomalies, and the spectrum of appearance of these clefts are discussed

  17. Operative management of congenital talipes equinovarus deformity ...

    African Journals Online (AJOL)

    Background: Congenital talipes equinovarus is the most common congenital anomaly of the foot and ankle. The prevalence of this condition in our environment is not known due to dearth of medical literature on the subject. The aim of this study was to determine the outcome of our operative management of resistant talipes ...

  18. Congenital lobar emphysema: Is surgery routinely necessary ...

    African Journals Online (AJOL)

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

  19. Severe hydrocephalus associated with congenital varicella syndrome

    OpenAIRE

    Mazzella, Massimo; Arioni, Cesare; Bellini, Carlo; Allegri, Anna Elsa Maria; Savioli, Cesarina; Serra, Giovanni

    2003-01-01

    CONGENITAL VARICELLA SYNDROME refers to the spectrum of fetal anomalies associated with maternal varicella zoster virus (VZV) infection during the first trimester of pregnancy. The syndrome is rare and the risk to the fetus uncertain. We describe an unusual case of congenital varicella syndrome in which hydrocephalus was the main consequence and likely represented VZV reactivation in utero.

  20. Congenital Diverticular Disease of the Entire Colon

    Directory of Open Access Journals (Sweden)

    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.

  1. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

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

  2. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

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

    2011-01-01

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

  3. Echocardiography Findings in Clinically Confirmed Congenital ...

    African Journals Online (AJOL)

    Background: Congenital rubella syndrome (CRS) is known to affect thousands of children in the developing world because rubella vaccination is not available routinely in most of these countries. Among its many manifestations only congenital heart disease is life threatening. This study was undertaken to ascertain the ...

  4. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing ...

  5. Congenital segmental dilatation of the colon

    African Journals Online (AJOL)

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

  6. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Cancer Institute: What is Melanoma Educational Resources (10 links) Children's Hospital of Philadelphia: ... Large congenital melanocytic nevus Seattle Children's Hospital: Birthmarks What is a Large/Giant Congenital Melanocytic ... Organization for Rare Disorders (NORD) Nevus Outreach ...

  7. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet. 2010 Aug;78(2):103-23. doi: 10.1111/j.1399-0004.2010.01435.x. Epub 2010 May 17. Review. Citation on ... genes in congenital heart disease. Nature. 2013 Jun 13;498(7453): ...

  8. Congenital sixth nerve palsy with associated anomalies

    Directory of Open Access Journals (Sweden)

    Nirupama Kasturi

    2017-01-01

    Full Text Available Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.

  9. Congenital sixth nerve palsy with associated anomalies.

    Science.gov (United States)

    Kasturi, Nirupama

    2017-10-01

    Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.

  10. Socio-occupational status and congenital anomalies

    DEFF Research Database (Denmark)

    Varela, María M Morales-Suárez; Nohr, Ellen Aagaard; Llopis-González, Agustin

    2009-01-01

    The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring.......The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring....

  11. Congenital malformations in paediatric and neurosurgical practices ...

    African Journals Online (AJOL)

    Methodology: We retrospectively studied all children presenting over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria. Clinical data abstracted and analyzed include age, type of congenital anomaly, management, ...

  12. Bilateral population receptive fields in congenital hemihydranencephaly

    NARCIS (Netherlands)

    Fracasso, Alessio|info:eu-repo/dai/nl/372646905; Koenraads, Yvonne; Porro, Giorgio L; Dumoulin, Serge O|info:eu-repo/dai/nl/314406514

    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

  13. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

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

    2017-06-01

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

  14. Primary congenital hypothyroidism complicated by persistent severe ...

    African Journals Online (AJOL)

    2013-12-24

    Dec 24, 2013 ... Case Study: Primary congenital hypothyroidism complicated by persistent severe anaemia in early infancy. 85. 2014 Volume 19 No 2. JEMDSA. Introduction. Although anaemia is a common finding in adults with hypothyroidism, there is a general paucity of studies on anaemia in infants with congenital ...

  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. 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....

  17. Polyhydramnios Associated with Multiple Congenital Malformations ...

    African Journals Online (AJOL)

    A case of polyhydramnios associated with multiple congenital abnormalities in the fetus of a 25 year old primigravida, at 33 weeks gestation is reported. She presented with complaint of excessive abdominal distension and ultrasound scan revealed severe polyhydramnios (AFI 46.1cm) with multiple congenital ...

  18. Nominal Realism in Congenitally Blind Children.

    Science.gov (United States)

    Anderson, D. W.; Fisher, K. P.

    1986-01-01

    The study of 10 congenitally blind and 10 sighted children (ages 3 through 9) indicated that preoperational thought patterns of nominal realism remain longer for blind than for sighted children indicating a delay in (Piagetian) cognitive development of congenitally blind children and their need for appropriate cognitive and linguistic experiences.…

  19. 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

  20. Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

    Science.gov (United States)

    Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

    2015-10-01

    To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

  1. [Congenital buried penis in children].

    Science.gov (United States)

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  2. Congenital malformations in neonates: analysis of morbidity and associated factors

    OpenAIRE

    Rosana Alves de Melo; Flávia Emília Cavalcante Valença Fernandes; Ana Kariny Costa Araújo; Nadja Maria dos Santos; Maria Elda Alves de Lacerda Campos; Priscylla Helena Alencar Falcão Sobral; Vitória de Barros Siqueira; Roseane da Silva Lemos; Saulo Bezerra Xavier; Alana Mirelle Coelho Leite; Rachel Mola; Luciana Pessoa Maciel; Roberto Luis Pereira dos Santos; Lusineide Carmo Andrade de Lacerda; Gerlene Grudka Lira

    2017-01-01

    Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc). The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenita...

  3. Bilateral congenital absence of the internal carotid artery

    Energy Technology Data Exchange (ETDEWEB)

    Rumboldt, Z.; Castillo, M.; Solander, S. [Dept. of Radiology, Univ. of North Carolina School of Medicine, Chapel Hill, NC (United States)

    2003-12-01

    Bilateral congenital absence of the internal carotid artery was incidentally found in an 11-year-old boy. Magnetic resonance imaging showed a normal-appearing brain that was entirely supplied by the vertebrobasilar system, and CT confirmed the absence of the bony carotid canals. Although most reported patients with agenesis of both internal carotid arteries presented with cerebrovascular lesions, this case demonstrates that this rare malformation may be asymptomatic. (orig.)

  4. Clinico-roentgenological atlas of congenital malformations in human limbs

    International Nuclear Information System (INIS)

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

    1990-01-01

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

  5. Exposure to topical chloramphenicol during pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen

    2015-01-01

    PURPOSE: To investigate whether exposure to topical chloramphenicol in the first trimester of pregnancy is associated with congenital malformations. METHODS: The authors conducted a nationwide cohort study including all women giving live birth between 1997 and 2011 in Denmark. All women redeeming...... included. A total of 6024 women were exposed to topical chloramphenicol in the first trimester. The rate of congenital malformations was 3.50% among offspring of exposed mothers and 3.49% among unexposed. Exposure to topical chloramphenicol in the first trimester was not associated with major congenital...... of chloramphenicol eye drops or eye ointment in the first trimester of pregnancy and major congenital malformations. This is in accordance with a previous study analysing the risk of systemic chloramphenicol....

  6. The role of respiratory failure caused by congenital central nervous system abnormalities and the effect of β-casomorphins in sudden infant death syndrome pathogenesis

    OpenAIRE

    Barbara Sumińska-Ziemann; Tomasz Gos; Zbigniew Jankowski

    2015-01-01

    The aim of the paper is to discuss the role of respiratory failure caused by endogenous (both structural and functional) abnormalities in the central nervous system and exogenous food-derived opioid-like peptides in the pathogenesis of sudden infant death syndrome (SIDS). By stimulating μ-opioid receptors, opioid-like peptides may suppress the tonic activity of the respiratory centre in the brain stem.

  7. The role of respiratory failure caused by congenital central nervous system abnormalities and the effect of β-casomorphins in sudden infant death syndrome pathogenesis.

    Science.gov (United States)

    Sumińska-Ziemann, B; Gos, T; Jankowski, Z

    2015-01-01

    The aim of the paper is to discuss the role of respiratory failure caused by endogenous (both structural and functional) abnormalities in the central nervous system and exogenous food-derived opioid-like peptides in the pathogenesis of sudden infant death syndrome (SIDS). By stimulating μ-opioid receptors, opioid-like peptides may suppress the tonic activity of the respiratory centre in the brain stem.

  8. How Does Imaging of Congenital Zika Compare with Imaging of Other TORCH Infections?

    Science.gov (United States)

    Levine, Deborah; Jani, Jacques C; Castro-Aragon, Ilse; Cannie, Mieke

    2017-12-01

    The acronym TORCH is used to refer to congenital infections, such as toxoplasmosis, other infections (such as syphillis, varicella-zoster, and parvovirus B19), cytomegalovirus, and herpes simplex virus. The classic findings in patients with TORCH infections include rash in the mother during pregnancy and ocular findings in the newborn. Zika virus has emerged as an important worldwide congenital infection. It fits well with other congenital TORCH infections since there is a rash in the mother and there are commonly ocular abnormalities in the newborn. TORCH infections are recognized to have neurologic effects, such as ventriculomegaly, intraventricular adhesions, subependymal cysts, intracerebral calcifications, and microcephaly; however, the Zika virus is intensely neurotropic. Thus, it targets neural progenitor cells, leading to a more severe spectrum of central nervous system abnormalities than is typically seen in other TORCH infections, while relatively sparing the other organ systems. In this review, nonspecific findings of congenital infections initially will be described, then individual TORCH infections will be described and compared with the imaging findings associated with congenital Zika virus infection. For the radiologist, awareness of imaging features of common congenital infections may facilitate early diagnosis and may, at times, lead to prompt initiation of therapy. Online supplemental material is available for this article.

  9. Significant performance variation among PCR systems in diagnosing congenital toxoplasmosis in São Paulo, Brazil: analysis of 467 amniotic fluid samples

    Directory of Open Access Journals (Sweden)

    Thelma Suely Okay

    2009-03-01

    Full Text Available INTRODUCTION: Performance variation among PCR systems in detecting Toxoplasma gondii has been extensively reported and associated with target genes, primer composition, amplification parameters, treatment during pregnancy, host genetic susceptibility and genotypes of different parasites according to geographical characteristics. PATIENTS: A total of 467 amniotic fluid samples from T. gondii IgM- and IgG-positive Brazilian pregnant women being treated for 1 to 6 weeks at the time of amniocentesis (gestational ages of 14 to 25 weeks. METHODS: One nested-B1-PCR and three one-round amplification systems targeted to rDNA, AF146527 and the B1 gene were employed. RESULTS: Of the 467 samples, 189 (40.47% were positive for one-round amplifications: 120 (63.49% for the B1 gene, 24 (12.69% for AF146527, 45 (23.80% for both AF146527 and the B1 gene, and none for rDNA. Fifty previously negative one-round PCR samples were chosen by computer-assisted randomization analysis and re-tested (nested-B1-PCR, during which nine additional cases were detected (9/50 or 18%. DISCUSSION: The B1 gene PCR was far more sensitive than the AF146527 PCR, and the rDNA PCR was the least effective even though the rDNA had the most repetitive sequence. Considering that the four amplification systems were equally affected by treatment, that the amplification conditions were optimized for the target genes and that most of the primers have already been reported, it is plausible that the striking differences found among PCR performances could be associated with genetic diversity in patients and/or with different Toxoplasma gondii genotypes occurring in Brazil. CONCLUSION: The use of PCR for the diagnosis of fetal Toxoplasma infections in Brazil should be targeted to the B1 gene when only one gene can be amplified, preferably by nested amplification with primers B22/B23.

  10. Congenital cutis laxa with rectal and uterovaginal prolapse

    Directory of Open Access Journals (Sweden)

    Sanjiv V Choudhary

    2011-01-01

    Full Text Available A two-month-old female infant born of a consanguineous marriage, presented with loose, wrinkled and inelastic skin over the neck, axillae, trunk, inguinal region and thighs with slow elastic recoil. Patient also had systemic manifestations in the form of bilateral apical lobe consolidation of lung, bilateral inguinal hernia, rectal and uterovaginal prolapse. Histopathological examination of skin biopsy with special stain for elastic tissue revealed absence of dermal elastic tissue. Genital abnormalities in patients with congenital cutis laxa have been reported rarely. But rectal and uterovaginal prolapse have not been reported at an early age of two months. In the absence of mutational screening, with history and clinical findings our case is likely to be Type I autosomal recessive form of congenital cutis laxa.

  11. Adult congenital cardiopathy: percutaneous treatment of a complex case

    International Nuclear Information System (INIS)

    Suarez N, Alberto; Carvajal, Andres; Bustillo, Sabas

    2008-01-01

    Adult congenital cardiopathy is a clinical entity difficult to treat and diagnose. Since 1982 endovascular therapy changed its approach radically (1) and in the last years the design of new appliances and better balloon catheters facilitated the implementation of therapy to a greater number of patients (2). It is the election treatment for entities such as pulmonary valve stenosis (3), atrial septal defect (4) and persistent ductus arteriosus. We present the case of complex adult congenital cardiopathy that consisted of wide atrial septal defect,pulmonary valve stenosis with severe repercussion on the right ventricle, persistent PDA with severe calcification and pulmonary arterial hypertension and systemic essential arterial hypertension that were successfully treated through interventionist endovascular therapy in the Hospital Militar Central, in Bogota.

  12. The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis

    Science.gov (United States)

    Poduri, Annapurna; Chitsazzadeh, Vida; D’Arrigo, Stefano; Fedrizzi, Ermellina; Pantaleoni, Chiara; Riva, Daria; Busse, Claudia; Küster, Helmut; Duplessis, Adre; Gaitanis, John; Sahin, Mustafa; Garganta, Cheryl; Topcu, Meral; Dies, Kira A.; Barry, Brenda J.; Partlow, Jennifer; Barkovich, A. James; Walsh, Christopher A.; Chang, Bernard S.

    2009-01-01

    Background Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone. Methods Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed. Results Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis. Conclusions The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis. PMID:19751967

  13. Imaging findings in congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Ferreira, Rafael Martins; Amaral, Lazaro L F; Gonçalves, Marcus V M; Lin, Katia

    2011-12-01

    In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

  14. Cardiovascular magnetic resonance in congenital heart disease

    International Nuclear Information System (INIS)

    Cazacu, A.; Ciubotaru, A.

    2010-01-01

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

  15. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

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

    1987-01-01

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

  16. Imaging of congenital diaphragmatic hernias

    International Nuclear Information System (INIS)

    Taylor, George A.; Estroff, Judy A.; Atalabi, Omolola M.

    2009-01-01

    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.)

  17. 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.)

  18. Congenital lateral abdominal wall hernia.

    Science.gov (United States)

    Montes-Tapia, Fernando; Cura-Esquivel, Idalia; Gutiérrez, Susana; Rodríguez-Balderrama, Isaías; de la O-Cavazos, Manuel

    2016-08-01

    Congenital abdominal wall defects that are located outside of the anterior wall are extremely rare and difficult to classify because there are no well accepted guidelines. There are two regions outside of the anterior wall: the flank or lateral wall; and the lumbar region. We report the case of a patient with an oval 3 cm-diameter hernia defect located above the anterior axillary line, which affects all layers of the muscular wall. An anorectal malformation consisting of a recto-vestibular fistula was also identified, and chest X-ray showed dextrocardia. The suggested treatment is repair of the defect before 1 year of age. Given that the anomalies described may accompany lateral abdominal wall hernia, it is important to diagnose and treat the associated defects. © 2016 Japan Pediatric Society.

  19. Screening of newborns for congenital hypothyroidism. Guidance for developing programmes

    International Nuclear Information System (INIS)

    2005-12-01

    Congenital hypothyroidism is a condition that, if left untreated, can cause lifelong human suffering as a result of severe mental retardation and deficiency of growth. With the involvement of the IAEA, screening programmes to detect congenital hypothyroidism in newborn infants have been introduced successfully in a large number of countries. The cornerstone of these programmes is accurate and reliable screening methods involving isotope techniques and simple medical treatment. The suffering - and heavy social and economic burden - caused by congenital hypothyroidism prompted many countries to institute a formalized screening programme directed at newborns, just as a vaccination programme has become an integral part of child health care. In many other countries however, this type of formalized service has not yet been established. For these countries, the implementation of a neonatal screening programme will bring about a considerable improvement in child health care. It is hoped that the guidance in this publication will be especially useful to the signatories of the United Nations Convention on the Rights of the Child. Several factors that prevail in a country - the climate, political environment, economic development, level of health care and the transportation system - have an influence on the overall operational systems, design and implementation of a screening programme. As such, the design of such a programme will differ greatly from country to country. Nevertheless, neonatal screening programmes have many elements in common. This book draws on the IAEA's experience in this area over more than a decade, and on the results of a regional technical cooperation programme on neonatal screening for congenital hypothyroidism in East Asia (IAEA Project RAS6032). This publication provides guidance aimed specifically at implementing and sustaining programmes for the screening of newborn infants

  20. Improving the quality of transition and transfer of care in young adults with congenital heart disease.

    Science.gov (United States)

    Everitt, Ian K; Gerardin, Jennifer F; Rodriguez, Fred H; Book, Wendy M

    2017-05-01

    The transition and transfer from pediatric to adult care is becoming increasingly important as improvements in the diagnosis and management of congenital heart disease allow patients to live longer. Transition is a complex and continuous process that requires careful planning. Inadequate transition has adverse effects on patients, their families and healthcare delivery systems. Currently, significant gaps exist in patient care as adolescents transfer to adult care and there are little data to drive the informed management of transition and transfer of care in adolescent congenital heart disease patients. Appropriate congenital heart disease care has been shown to decrease mortality in the adult population. This paper reviews the transition and transfer of care processes and outlines current congenital heart disease specific guidelines in the United States and compares these recommendations to Canadian and European guidelines. It then reviews perceived and real barriers to successful transition and identifies predictors of success during transfer to adult congenital heart disease care. Lastly, it explores how disease-specific markers of outcomes and quality indicators are being utilized to guide transition and transfer of care in other chronic childhood illnesses, and identifies existing knowledge gaps and structural impediments to improving the management of transition and transfer among congenital heart disease patients. © 2017 Wiley Periodicals, Inc.

  1. Is congenital malformation a risk factor for caries development in Swedish adolescents?

    Science.gov (United States)

    Julihn, Annika; Jansson, Pelle; Regnstrand, Tobias; Modéer, Thomas

    2013-11-01

    The aim of this study was to investigate whether various forms of congenital malformations are risk factors for approximal caries development in Swedish adolescents. This longitudinal register-based cohort study included all adolescents (n = 18 142) of 13 years of age who resided in the county of Stockholm, Sweden, in 2000. The cohort was followed until individuals were 19 years of age. Dental caries (decayed, missing and filled teeth/surfaces (DMFT/S)) were collected from the Public Health Care Administration in Stockholm. Data concerning pre- and perinatal factors and parental socio-demographic determinants were collected from Swedish National Registers. In a logistic regression analysis, neither congenital malformation nor any sub-group of congenital malformation registered at birth were significantly associated with an enhanced risk of approximal caries increment in adolescents between 13-19 years of age. The final multivariate logistic regression model, adjusted for possible maternal and family socio-demographic confounders, showed that congenital malformation of the 'circulatory system' was significantly associated with a decreased risk of approximal caries increment, between 13-19 years of age (OR = 0.33; 95% CI = 0.12-0.88). Congenital malformation should not be considered as a risk factor for approximal caries development in Swedish adolescents today. Noticeably, adolescents with congenital heart diseases exhibited less risk of developing approximal caries, which was probably related to prevention programs allocated to these children in Sweden.

  2. Congenital multifocal osteomyelitis at 24 weeks' gestation

    International Nuclear Information System (INIS)

    Raupp, Peter; Shubbar, Adil; Baichoo, Vijaymani; Samson, Gregory

    2007-01-01

    We report an extremely rare case of congenital nonsyphilitic osteomyelitis in a very preterm infant, providing a unique illustration of the radiological appearances at birth, which may serve as a reference to facilitate diagnosis. (orig.)

  3. Congenital central hypoventilation syndrome and intestinal ...

    African Journals Online (AJOL)

    ... hypoventilation syndrome (CCHS), also called 'Ondine's curse', is characterised by an abnormal ventilatory response to progressive hypercapnia and sustained hypoxaemia. Neonates with this condition experience hypoventilation or apnoea while asleep. Patients may also have congenital intestinal aganglionosis (CIA), ...

  4. Rapid Genetic Analysis in Congenital Hyperinsulinism

    DEFF Research Database (Denmark)

    Christesen, Henrik Thybo; Brusgaard, Klaus; Alm, Jan

    2007-01-01

    BACKGROUND: In severe, medically unresponsive congenital hyperinsulinism (CHI), the histological differentiation of focal versus diffuse disease is vital, since the surgical management is completely different. Genetic analysis may help in the differential diagnosis, as focal CHI is associated...

  5. Optimization of physical rehabilitation in congenital clubfoot

    Directory of Open Access Journals (Sweden)

    M.L. Golovakha

    2013-09-01

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

  6. Genetics Home Reference: congenital insensitivity to pain

    Science.gov (United States)

    ... NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key ... Indifference to pain, congenital, autosomal recessive Johns Hopkins Medicine: Peripheral Neuropathy Merck Manual Consumer Version: Nociceptive Pain ...

  7. [Cacchi Ricci disease associated with congenital hemihypertrophy].

    Science.gov (United States)

    Cuesta Alcalá, José Angel; Aldave Villanueva, Javier; Solchaga Martínez, Alfredo; Pascual Piédrola, Ignacio; Arrondo Arrondo, José Luis; Ripa Saldías, Luis; Grasa Lanau, Vicente; Ponz González, Mariano; Ipiéns Aznar, Alfredo

    2002-12-01

    An uncommon case of medullary sponge kidney with congenital hemihypertrophy complicated by nephrocalcinosis and nephrolithiasis is reported here. A 29 year old female patient with multiple episodes of renal colic is presented. Clinical features, radiological findings and differential diagnosis in a patient with Cacchi-Ricci disease are discussed. At least twenty-nine cases associated with congenital hemihypertrophy have been reported previously. A significant number of patients with medullary sponge kidney are asymptomatic. In many cases the diagnosis is made when a patient is evaluated by intravenous urography for some unrelated problem. However, medullary sponge kidney has been reported in association with rare congenital anomalies (Beckwith-Widemann syndrome and congenital hemihypertrophy) and these patients appear to be at risk of malignant neoplasms of the adrenal gland, kidney and liver, therefore they must be followed closely.

  8. 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...

  9. Congenital diaphragmatic hernia in identical twins

    Directory of Open Access Journals (Sweden)

    Mustafa T Gurbaz

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH, Bochdalek type is rarely seen in both members of identical twins. Herein, we report a 37 weeks′ twins with CDH along with a brief review of the literature. Both the neonates survived.

  10. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie

    2013-01-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment...... for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize...... the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also...

  11. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... make you breath heavily. Examples include brisk walking, swimming, biking, jogging, rowing, cross-country skiing, hiking or ... the lungs; and it often means there's more force on the chest wall, and many congenital heart ...

  12. Congenital bilateral microphthalmos after gestational syphilis.

    Science.gov (United States)

    Navas, Rosa M; Parra, Reinaldo; Pacheco, Maivelys; Gomez, Jimena; Bermudez, Iris; Rodriguez-Morales, Alfonso J

    2006-10-01

    Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis.

  13. Pulmonary arterial hypertension in congenital cardiac disease - the need for refinement of the Evian-Venice classification

    NARCIS (Netherlands)

    van Albada, Mirjam E.; Berger, Rolf M. F.

    Pulmonary hypertension associated with congenital systemic-to-pulmonary shunts has been classified, in the Evian-Venice classification, as Pulmonary Arterial Hypertension, which includes a heterogeneous group of conditions. Emerging options for treatment of patients with pulmonary arterial

  14. Management of patients with pulmonary arterial hypertension due to congenital heart disease: recent advances and future directions

    NARCIS (Netherlands)

    Blok, Ilja M.; van Riel, Annelieke C. M. J.; Mulder, Barbara J. M.; Bouma, Berto J.

    2015-01-01

    Pulmonary arterial hypertension is a serious complication of adult congenital heart disease associated with systemic-to-pulmonary shunts. Although early shunt closure restricts development of pulmonary arterial hypertension, patients remain at risk even after repair. The development of pulmonary

  15. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis

    OpenAIRE

    Michael S. Salman; Michael S. Salman; Ian H. Clark; Ian H. Clark

    2017-01-01

    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin cr...

  16. Management of Congenitally Missing Lateral Incisor

    Directory of Open Access Journals (Sweden)

    Nidhi Kedia

    2011-01-01

    Full Text Available Multiple treatment options are available to patients who have congenitally missing teeth. Management options for the treatment of missing teeth can include the following: (1 Orthodontic space closure and adjacent tooth substitution, (2 autotransplantation, (3 prosthetic replacement with resin-bonded fixed partial dentures, conventional fixed partial dentures and single-tooth implants. In this case report, treatment of a patient with congenitally missing maxillary right lateral incisor will be presented.

  17. 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.

  18. Mesenchymal neoplasia and congenital pulmonary cysts

    International Nuclear Information System (INIS)

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

    1980-01-01

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

  19. Common congenital malformations of the brain

    International Nuclear Information System (INIS)

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

    1987-01-01

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

  20. 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.

  1. Renal abnormalities in congenital chloride diarrhea

    International Nuclear Information System (INIS)

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

    2004-01-01

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

  2. Postoperative nosocomial infections among children with congenital heart disease

    Science.gov (United States)

    Zhang, Jian; Yuan, Yan; Li, Peiling; Wang, Tuanjie; Gao, Jun; Yao, Jinhua; Li, Shujun

    2014-01-01

    Objective: To study the pathogen distribution, antimicrobial susceptibility and risk factors of postoperative nosocomial infections among children with congenital heart disease. Methods: Three hundreds children with congenital heart disease admitted to our hospital to receive surgeries from February 2010 to February 2013 were selected. Results: A total of 120 children were tested as positive by sputum culture, with the infection rate of 40.0%. The top five most common pathogenic microorganisms included Staphylococcus epidermidis, Staphylococcus aureus, Enterococcus, Pseudomonas aeruginosa, and Candida albicans. S. epidermidis, S. aureus and Enterococcus were highly resistant to penicillin, azithromycin and erythromycin, moderately susceptible to levofloxacin and cefazolin, and completely susceptible to vancomycin. Multivariate Logistic regression analysis showed that hospitalization stay length, combined use of antibiotics, systemic use of hormones, mechanical ventilation and catheter indwelling were the independent risk factors of postoperative nosocomial infections (P<0.05). Conclusion: Nosocomial infection, which was the most frequent postoperative complication of pediatric congenital heart disease, was predominantly induced by Gram-positive bacteria that were highly susceptible to cephalosporins and vancomycin. Particular attention should be paid to decrease relevant risk factors to improve the prognosis. PMID:24948978

  3. Congenital Midline Nasal Mass: Four Cases with Review of Literature

    Directory of Open Access Journals (Sweden)

    Sambhaji Govind Chintale

    2017-12-01

    Full Text Available Introduction Congenital midline nasal masses include nasal dermoids, gliomas, encephaloceles. Although rare, these disorders are clinically important because of their potential for connection to the central nervous system. Preoperative knowledge of an intracranial connection is a necessity to allow for neurosurgical consultation and possible planning for craniotomy. This study discusses the clinical presentation of congenital midline nasal mass and the role of imaging modalities like CT scan and MRI in diagnosis and the surgical management. Materials and Methods  This prospective study is carried from March 2014 to March 2016, during which 4 cases presented to the Otorhinolaryngology department. Pre-operative evaluation of the patients included endoscopic evaluation along with haematological investigations, CT Scan and MRI. The masses were removed with nasal endoscopic sinus surgery or by external approaches and neurosurgical intervention. Result The age of the patients ranged from 3 years to 25 years. Three of them were male and one female. There was one case of nasoethmoidal encephalocele and the other three were dermoids (intranasal dermoid cyst, nasal dermoid cyst and nasal dermoid sinus cyst. Conclusion Congenital midline nasal masses are rare. These disorders are clinically important because of their intracranial connection which require proper evaluation with radiological imaging like CT scan and/or MRI before FNAC and any surgical intervention.

  4. Actual state of imaging diagnosis in congenital cardiopaties

    International Nuclear Information System (INIS)

    Leon Galindo, Jorge

    2005-01-01

    The congenital cardiac illnesses can be diagnosed through different procedures, such as echocardiography two-dimensional trans-thoracic and trans-esophagus, fetal echocardiogram, heart catheterism, three-dimensional echocardiography, three-dimensional helical on-line tomography or magnetic resonance. Some heart anomalies are of such a complexity that becomes necessary the use of methods complementary diagnoses that they give a bigger space orientation of the structures with three-dimensional character and their relationship with adjacent systems, so the pathology can understand each other and to interpret in an exact way before making a surgical correction. In a same way, when being methods of recent development, it is important to find a balance between the academic development and the readiness of this technology like an alternative in front of the conventional options in the diagnostic phase. The three-dimensional images, with the on-line helical tomography, promises to generate a revolution in the diagnosis of the congenital cardiopatie with the purpose of allowing the obtaining of more and more reliable information and of better quality, so the behaviors to continue are those most guessed right ones. With this initial approach toward these new methods diagnoses in congenital cardiopatie, intend to evaluate the possibilities that at this time are imposed as complementary methods to the current ones

  5. Priming paradigm reveals harmonic structure processing in congenital amusia.

    Science.gov (United States)

    Tillmann, Barbara; Gosselin, Nathalie; Bigand, Emmanuel; Peretz, Isabelle

    2012-09-01

    Deficits for pitch structure processing in congenital amusia has been mostly reported for melodic stimuli and explicit judgments. The present study investigated congenital amusia with harmonic stimuli and a priming task. Amusic and control participants performed a speeded phoneme discrimination task on sung chord sequences. The target phoneme was sung either on a functionally important chord (tonic chord, referred to as "related target") or a less important one (subdominant chord, referred to as "less-related target"). Correct response times were faster when the target phoneme was sung on tonic chords rather than on subdominant chords, and this effect was less pronounced, albeit significant, in amusic participants. These data report for the first time a deficit in congenital amusia for chord processing, but also provide evidence that, despite this deficit, amusic individuals have internalized sophisticated syntactic-like functions of chords in the Western tonal musical system. This finding suggests that thanks to this musical knowledge, amusic individuals could develop expectancies for musical events, and, presumably, follow the tension-relaxation schemas in Western tonal music, which also influence emotional responses to music. Copyright © 2012 Elsevier Srl. All rights reserved.

  6. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

    Directory of Open Access Journals (Sweden)

    J Pedro Fernández-Murray

    2016-01-01

    Full Text Available Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutations in the SLC25A38 gene. The current treatment for SLC25A38 congenital sideroblastic anemia is chronic blood transfusion coupled with iron chelation. The function of SLC25A38 is not known. Here we report that the SLC25A38 protein, and its yeast homolog Hem25, are mitochondrial glycine transporters required for the initiation of heme synthesis. To do so, we took advantage of the fact that mitochondrial glycine has several roles beyond the synthesis of heme, including the synthesis of folate derivatives through the glycine cleavage system. The data were consistent with Hem25 not being the sole mitochondrial glycine importer, and we identify a second SLC25 family member Ymc1, as a potential secondary mitochondrial glycine importer. Based on these findings, we observed that high levels of exogenous glycine, or 5-aminolevulinic acid (5-Ala a metabolite downstream of Hem25 in heme biosynthetic pathway, were able to restore heme levels to normal in yeast cells lacking Hem25 function. While neither glycine nor 5-Ala could ameliorate SLC25A38 congenital sideroblastic anemia in a zebrafish model, we determined that the addition of folate with glycine was able to restore hemoglobin levels. This difference is likely due to the fact that yeast can synthesize folate, whereas in zebrafish folate is an essential vitamin that must be obtained exogenously. Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia.

  7. 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.

  8. Management of labour and delivery in congenitally corrected transposition of great arteries.

    Science.gov (United States)

    Dhir, S; Racine, J; Gratton, R; Bergin, L; de Vrijer, B

    2015-11-01

    A descriptive case report of the labour and delivery management of a 28-year-old woman who presented with congenitally corrected transposition of great arteries, dextrocardia, systemic ventricular dysfunction and junctional tachycardia. Patients with congenitally corrected transposition have a thin-walled morphological right ventricle as the systemic circulatory pump. The stress of increased cardiac output can lead to congestive heart failure, systemic atrioventricular valve regurgitation and arrhythmias. We used minimally invasive continuous cardiac output monitoring, fluid balance optimization and good maternal pain control to prevent decompensation and achieve vaginal delivery with a good maternal and neonatal outcome. © 2015 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  9. Maternal smoking in pregnancy and risk for congenital malformations: results of a Danish register-based cohort study.

    Science.gov (United States)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K; Jensen, Allan

    2014-08-01

    To examine the association between maternal smoking during pregnancy and risk for congenital malformations. Population-based prospective cohort study. Denmark. A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. Groups of congenital malformations. Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.

  10. 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.

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  12. Genetics of congenital heart disease.

    Science.gov (United States)

    Edwards, Jonathan J; Gelb, Bruce D

    2016-05-01

    The goal of this review is to highlight recent discoveries in the field of genetics as it relates to congenital heart disease (CHD). Recent advancements in next generation sequencing technology and tools to interpret this growing body of data have allowed us to refine our understanding of the molecular mechanisms that result in CHD. From multiple different study designs, the genetic lesions that cause CHD are increasingly being elucidated. Of the more novel findings, a forward genetic screen in mice has implicated recessive inheritance and the ciliome broadly in CHD pathogenesis. The developmental delays frequently observed in patients with CHD appear to result from mutations affecting genes that overlap heart and brain developmental regulation. A meta-analysis has provided clarity, discriminating pathologic from incidental copy number variations and defining a critical region or gene. Recent technological advances have rapidly expanded our understanding of CHD genetics, and support the applicability to the clinical domain in both sporadic and inherited disease. Though significant gaps remain, genetic lesions remain the primary explanation for CHD pathogenesis, although the precise mechanism is likely multifactorial.

  13. 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".

  14. Epidemiology of congenital anomalies in different ethnicities.

    Science.gov (United States)

    Anastasiadis, P; Tsikouras, P; Dafopoulos, K; Liberis, V; Galazios, G; Koutlaki, N

    2005-01-01

    To study the prevalence and the epidemiologic characteristics of major congenital anomalies (MCAs) in two different populations in Thrace-Greece. The ethnic origin of all mothers who delivered in our department and the types of MCAs were determined. We compared the frequencies of MCAs between Christians and Muslims. The chi-square test, t-test, binary and multinomial logistic regression analysis were performed. The prevalence of MCAs was significantly higher in Muslims as compared to Christians (51/4,028 (12.78%) vs 49/5,994 (8.17%), p = 0.035). However, the frequencies of each type of MCA in the total number of deliveries between the two groups did not differ significantly. The central nervous system malformations were most frequently associated with perinatal mortality. This is the first study in Greece showing that there is probably a higher prevalence of MCAs in Muslims as compared to Christians, although it can not be elucidated whether this increased risk is related to specific differences between them.

  15. 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....

  16. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    International Nuclear Information System (INIS)

    Konez, Orhan; Burrows, Patricia E.; Mulliken, John B.; Fishman, Steven J.; Kozakewich, Harry P.W.

    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.)

  17. Congenital cytomegalovirus infection in the Netherlands: birth prevalence and risk factors

    NARCIS (Netherlands)

    Vries, J.C. de; Korver, A.M.H.; Verkerk, P.H.; Rusman, L.; Claas, E.C.J.; Gerard, L.J.; Kroes, A.C.M.; Vossen, A.C.T.M.

    2011-01-01

    Congenital cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The sequela encountered most frequently is hearing impairment, affecting approximately one out of five infants congenitally infected. Data on the birth prevalence and risk factors of congenital CMV

  18. Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.

    Science.gov (United States)

    Bedard, Tanya; Lowry, R Brian; Sibbald, Barbara; Thomas, Mary Ann; Innes, A Micheil

    2016-01-01

    The use of array-based comparative genomic hybridization to assess DNA copy number is increasing in many jurisdictions. Such technology identifies more genetic causes of congenital anomalies; however, the clinical significance of some results may be challenging to interpret. A coding strategy to address cases with copy number variants has recently been implemented by the Alberta Congenital Anomalies Surveillance System and is described.

  19. Congenital rubella syndrome surveillance as a platform for surveillance of other congenital infections, Peru, 2004-2007.

    Science.gov (United States)

    Whittembury, Alvaro; Galdos, Jorge; Lugo, María; Suárez-Ognio, Luis; Ortiz, Ana; Cabezudo, Edwin; Martínez, Mario; Castillo-Solórzano, Carlos; Andrus, Jon Kim

    2011-09-01

    Rubella during pregnancy can cause serious fetal abnormalities and death. Peru has had integrated measles/rubella surveillance since 2000 but did not implement congenital rubella syndrome (CRS) surveillance until 2004, in accordance with the Pan American Health Organization recommendations for rubella elimination. The article describes the experience from the CRS sentinel surveillance system in Peru. Peru has maintained a national sentinel surveillance system for reporting confirmed and suspected CRS cases since 2004. A surveillance protocol was implemented with standardized case definitions and instruments in the selected sentinel sites. Each sentinel site completes their case investigations and report forms and sends the reports to the Health Region Epidemiology Department, which forwards the data to the national Epidemiology Department. CRS surveillance data were analyzed for the period 2004-2007. During the period 2004-2007, 16 health facilities, which are located in 9 of the 33 health regions, representing the 3 main geographical areas (coast, mountain, and jungle), were included as sentinel sites for the CRS surveillance. A total of 2061 suspected CRS cases were reported to the system. Of these, 11 were classified as CRS and 23 as congenital rubella infection. Factors significantly associated with rubella vertical transmission were: (1) in the mother, maternal history of rash during pregnancy (odds ratio [OR], 12.0; 95% confidence interval [CI], 3.8-37.8); (2) and in the infant, pigmentary retinopathy (OR, 18.4; 95% CI, 3.2-104.6), purpura (OR, 14.7; 95% CI, 2.8-78.3), and developmental delay (OR, 4.4; 95% CI, 1.75-11.1). The surveillance system has been able to identify rubella vertical transmission, reinforcing the evidence that rubella was a public health problem in Peru. This system may serve as a platform to implement surveillance for other congenital infections in Peru.

  20. RSV prophylaxis guideline changes and outcomes in children with congenital heart disease.

    Science.gov (United States)

    Walpert, Adam S; Thomas, Ian D; Lowe, Merlin C; Seckeler, Michael D

    2018-02-13

    The aim of this study was to compare inpatient outcomes and costs for children with respiratory syncytial virus and congenital heart disease before and after the change in management guidelines for respiratory syncytial virus prophylaxis. Hospital discharge data from the Vizient (formerly University HealthSystem Consortium) were queried from October 2012 to June 2014 (Era 1) and July 2014 to April 2016 (Era 2) for patients aged Disease (ICD)-9 or ICD-10 code for congenital heart disease (745-747.49, Q20.0-Q26.4) and a primary or secondary admitting diagnosis of respiratory syncytial virus infection (079.6, J20.5), acute bronchiolitis due to respiratory syncytial virus (466.11, J21.0) or respiratory syncytial virus pneumonia (480.1, J12.1). This study is a review of a national administrative discharge database. Respiratory syncytial virus admissions were identified in 1269 patients aged congenital heart disease, with 644 patients in Era 1 and 625 in Era 2. Patients 0-12 months old represented 83% of admissions. Prior to 2014, children aged 0-24 months with congenital heart disease were eligible to receive respiratory syncytial virus prophylaxis. Updated guidelines, published in 2014, restricted the recommendation to administer palivizumab respiratory syncytial virus prophylaxis to children with congenital heart disease only if they are ≤12 months old. The outcome measures are hospital length of stay, ICU admission rate, mortality, and direct costs. There was no change in length of stay, ICU admission rate, in-hospital mortality, or direct costs for children 13-24 months old with congenital heart disease after the change in guidelines. There were no deaths in 13-24 month olds, regardless of era. Our findings provide additional support for the new guideline recommendations to provide respiratory syncytial virus prophylaxis only for children ≤12 months old with congenital heart disease. © 2018 Wiley Periodicals, Inc.

  1. Congenital basis of posterior fossa anomalies

    Science.gov (United States)

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

  2. Congenital scoliosis: an up-to-date

    Science.gov (United States)

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

    2015-01-01

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

  3. Nomenclature for congenital and paediatric cardiac disease: the International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11).

    Science.gov (United States)

    Franklin, Rodney C G; Béland, Marie J; Colan, Steven D; Walters, Henry L; Aiello, Vera D; Anderson, Robert H; Bailliard, Frédérique; Boris, Jeffrey R; Cohen, Meryl S; Gaynor, J William; Guleserian, Kristine J; Houyel, Lucile; Jacobs, Marshall L; Juraszek, Amy L; Krogmann, Otto N; Kurosawa, Hiromi; Lopez, Leo; Maruszewski, Bohdan J; St Louis, James D; Seslar, Stephen P; Srivastava, Shubhika; Stellin, Giovanni; Tchervenkov, Christo I; Weinberg, Paul M; Jacobs, Jeffrey P

    2017-12-01

    An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists". In an attempt to solve this problem, the International Nomenclature Society has linked its efforts with those of the World Health Organization to obtain a globally accepted nomenclature tree for CHD within the 11th iteration of the International Classification of Diseases (ICD-11). The International Nomenclature Society has submitted a hierarchical nomenclature tree for CHD to the World Health Organization that is expected to serve increasingly as the "short list" for all communities interested in coding for congenital cardiology. This article reviews the history of the International Classification of Diseases and of the IPCCC, and outlines the process used in developing the ICD-11 congenital cardiac disease diagnostic list and the definitions for each term on the list. An overview of the content of the congenital heart anomaly section of the Foundation Component of ICD-11, published herein in its entirety, is also included. Future plans for the International Nomenclature Society include linking again with the World Health Organization to tackle procedural nomenclature as it relates to cardiac malformations. By doing so, the Society will continue its role in standardising nomenclature for CHD across the globe, thereby promoting research and better outcomes for fetuses

  4. PREVALENCE OF CONGENITAL MALFORMATION IN NEWBORNS OF THE PUBLIC HOSPITAL

    Directory of Open Access Journals (Sweden)

    Aritana Pereira Ramos

    2008-01-01

    Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the factgathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.

  5. Prevalence of congenital malformation in newborns of the public hospital

    Directory of Open Access Journals (Sweden)

    Aritana Pereira Ramos

    2008-01-01

    Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil-congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.

  6. Congenital prepubic sinus – A variant of urethral duplication

    African Journals Online (AJOL)

    J.S. Aihole

    2016-08-02

    licenses/by-nc-nd/4.0/). Introduction. Congenital prepubic sinus (CPS) is a rare condition. It has been referred in the literature with various names like, congenital pre- pubic sinus, subpubic fistula and prepubic dermoid sinus. The.

  7. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.

    Science.gov (United States)

    Lim, Key Hwan; Engle, Elizabeth C; Demer, Joseph L

    2007-04-01

    High-resolution magnetic resonance imaging (MRI) can now directly demonstrate innervation to extraocular muscles and quantify optic nerve size. A quantitative MRI technique was developed to study the oculomotor nerve (CN3) and applied to congenital fibrosis of extraocular muscles (CFEOM) and congenital oculomotor palsy. The subarachnoid portions of the CN3s were imaged with a 1.5-T MRI scanner and conventional head coils, acquiring heavily T(2)-weighted oblique axial planes 1-mm thick and parallel to the optic chiasm. Thirteen normal subjects, 14 with CFEOM, and 3 with congenital CN3 palsy were included. Digital image analysis was used to measure CN3 diameter, which was correlated with motility findings. In CFEOM, CN3 diameter was bilaterally subnormal in eight subjects, unilaterally subnormal in three subjects, and normal in three subjects. Mean +/- SD CN3 diameter in CFEOM was 1.14 +/- 0.61 mm, significantly smaller than the diameter in normal subjects, which measured 2.01 +/- 0.36 mm (P congenital CN3 palsy showed bilateral CN3 hypoplasia, but CN3 diameter was normal in two other subjects with congenital CN3 palsy. Unilateral or bilateral hypoplasia of CN3 is quantitatively demonstrable using MRI in many cases of CFEOM and occasionally in congenital CN3 palsy. Variations in CN3 diameter in CFEOM and congenital CN3 palsy suggest mechanistic heterogeneity of these disorders that may be clarified by further imaging and genetic studies.

  8. A case of congenital solitary Langerhans cell histiocytoma.

    LENUS (Irish Health Repository)

    Ricciardo, Bernadette

    2012-02-01

    A newborn baby boy was referred to the Paediatric Dermatology Unit with a solitary asymptomatic nodule overlying his right nasolabial fold. Complete physical examination, full blood count, serum chemistry, liver function tests and baseline imaging were unremarkable. Histopathological examination showed an atypical dermal infiltrate of mononuclear cells that stained positive with CD1a and S100. A diagnosis of congenital solitary Langerhans cell histiocytoma was made. The lesion completely resolved by 4 months of age. The baby is now 15 months old and repeat systemic evaluation has remained normal.

  9. Congenital hypogammaglobulinemia associated with granulocyte disorders. A case presentation

    International Nuclear Information System (INIS)

    Sanchez Segura, Miriam C; Marsan Suarez, Vianed; Socarras Ferrer, Bertha B; Ojeda de Leon, Norma

    2009-01-01

    This is the case of a child aged 11 months with a history of systemic sepsis from Pseudomona aeruginosa at 5 months, neutropenia, leucopenia, sepsis-associated anemia and from then, recurrent acute respiratory infections of the high respiratory tract, allergic manifestations and furunculosis from pseudomona. Immunologic study conducted showed a decreased figure of IgG with a light increase of CD4 +c ooperative-IgM of T cells. Also, we found the presence of neutropenia and marked defect of phagocytosis. We made the diagnosis of granulocyte-associate congenital hypogammaglobulinemia. The patient was treated with human gamma globulin by intramuscular route, transference factor and immunoferon, with an obvious improvement

  10. Radiographic assessment of congenital malformations of the upper extremity

    International Nuclear Information System (INIS)

    Winfeld, Matthew J.; Otero, Hansel

    2016-01-01

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  11. Radiographic assessment of congenital malformations of the upper extremity

    Energy Technology Data Exchange (ETDEWEB)

    Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)

    2016-09-15

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  12. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    R Vakili

    2014-04-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report: In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children, it is necessary to evaluate women before pregnancy to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.   Keywords:Congenital rickets, Vitamin D deficiency, Hypocalcemia, Seizure.  

  13. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis

    Directory of Open Access Journals (Sweden)

    Michael S. Salman

    2017-05-01

    Full Text Available Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. We attribute this uncommon sign in congenital ptosis to stiffness and presumed fibrosis of the levator muscle. Examining the function of the eyelids in all directions of gaze is important in patients with abnormalities of lid position, since additional useful information can be gleaned about the status of the levator muscle including, aberrant regeneration or fibrosis.

  14. An allelic variant of congenital Salih myopathy

    Directory of Open Access Journals (Sweden)

    M. S. Belenikin

    2015-01-01

    Full Text Available The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentially diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the course of the disease in an observed female patient differed from that of such nosological entities and appeared as not only muscle weakness, but also as early respiratory disorders, we could not identify what nosological entity the disease belonged to in view of its clinical presentation and the results of muscle histological examination and we decided to perform exome sequencing. Molecular genetic testing could find heterozygous mutations in the titin (TTN gene. The findings are suggestive of congenital proximal myopathy with early respiratory failure, which is an allelic variant of Salih myopathy. This case is the first and so far only description of this disease in Russia. 

  15. Anticoagulation in adults with congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Idorn, L; Nørager, B

    2015-01-01

    Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events....... Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable....... It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts...

  16. Cyanotic Congenital Heart Defects – literature review

    Directory of Open Access Journals (Sweden)

    Vlad Drăgoi

    2017-11-01

    Full Text Available Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects. The ones presented in the article are: tetralogy of Fallot, transposition of the great vessels, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous circulation and additional information regarding very rare malformations such as pentalogy of Cantrell and Uhl anomaly. An early and precise identification of congenital heart defects is an important step in an accurate follow-up of a potential problematic pregnancy. Knowing the sonographic aspect, associated pathology and the current available treatment procedures are vital for the fetal outcome and for the physician to adapt the right management in every situation that might appear during the pregnancy and in the neonatal period.

  17. Helical CT of congenital ossicular anomalies

    International Nuclear Information System (INIS)

    Osada, Hisato; Machida, Kikuo; Honda, Norinari

    2001-01-01

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

  18. MR imaging evaluation of congenital spine anomalies

    International Nuclear Information System (INIS)

    Bury, E.A.; Zimmerman, R.A.; Grossman, R.I.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.

    1987-01-01

    Over a 2-year period, 135 patients between the ages of 1 week and 18 years were examined with MR imaging for possible congenital anomalies of the spine and spinal cord. Tethered cords with various other associated pathologies such as lipomas and myelomeningoceles were found in 36 patients. The remaining abnormal examinations consisted of syrinxes, Chiari malformations, diastematomyelia, and conus masses. In 55 patients the studies were interpreted as normal. Of these, three were subsequently shown by surgery of myelography to be abnormal. The first had a thickened filum with a small epidermoid, the second a thickened filum, and the third, with only sagittal images, a diastematomyelia. Children presenting with symptoms highly suspicious for congenital abnormalities but with a normal MR study in multiple planes may still require further evaluation with myelography. Multiplanar MR examination in most instances will be a sufficient evaluation for congenital anomalies

  19. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

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

    2015-01-01

    reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence......INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  20. A congenital form of junctional ectopic tachycardia.

    Science.gov (United States)

    Tulino, Domenico; Dattilo, Giuseppe; Tulino, Viviana; Marte, Filippo; Patanè, Salvatore

    2010-11-19

    Accessory pathways have been described as well as their Ecg identification criteria also in pediatric population. Radiofrequency ablation is a curative treatment but its application has been more limited in the paediatric population. The congenital form of junctional ectopic tachycardia was firstly described by Coumel et al. in 1976. It usually occurs in the first six months of life presenting as a persistent sustained form, lasting up to 90% of the time and it is hampered by high mortality. Its clinical presentation may be dramatic, being associated in up to 60% of cases with cardiomegaly and/or heart failure. Secondary dilated cardiomyopathy, ventricular fibrillation and sudden cardiac death have also been reported. We present a case of congenital form of junctional ectopic tachycardia in a 12-day-old newborn infant. Also this case is illustrative of the congenital form of junctional ectopic tachycardia. Copyright © 2008 Elsevier Ireland Ltd. All rights reserved.

  1. Congenitally missing mandibular second premolars: clinical options.

    Science.gov (United States)

    Kokich, Vincent G; Kokich, Vincent O

    2006-10-01

    Congenital absence of mandibular second premolars affects many orthodontic patients. The orthodontist must make the proper decision at the appropriate time regarding management of the edentulous space. These spaces can be closed or left open. If the space will be left open for an eventual restoration, the keys during orthodontic treatment are to create the correct amount of space and to leave the alveolar ridge in an ideal condition for a future restoration. If the space will be closed, the clinician must avoid any detrimental alterations to the occlusion and the facial profile. Some early decisions that the orthodontist makes for a patient whose mandibular second premolars are congenitally missing will affect his or her dental health for a lifetime. Therefore, the correct decision must be made at the appropriate time. In this article, we present and discuss various treatment alternatives for managing orthodontic patients with at least 1 congenitally missing mandibular second premolar.

  2. Computed tomography of common congenital lesions of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    Yuen, H.Y. E-mail: drhyyuen@doctors.org.uk; Ahuja, A.T.; Wong, K.T.; Yue, V.; Hasselt, A.C. van

    2003-09-01

    This pictorial review describes the application of high-resolution computed tomography to the investigation and pre-operative work-up of the common lesions of congenital hearing loss, including congenital aural dysplasia, various congenital ossicular anomalies, inner ear dysmorphology, large vestibular aqueduct syndrome, and congenital absence of cochlear nerve and labyrinthitis ossificans from previous infection. The aim is to help radiologists to provide a more accurate diagnosis of underlying aetiology and assist in surgical planning.

  3. Congenital skull defect and neurofibroma: without scalp and other abnormalities.

    Science.gov (United States)

    Wang, Jie-Cong; Wei, Liu; Xu, Jia; Liu, Jian-Feng; Gui, Lai

    2012-07-01

    Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with skull defects present with an intact scalp or neurofibroma. The authors report an adult patient with a rare congenital skull defect and local neurofibroma.

  4. The "silent" global burden of congenital cytomegalovirus.

    Science.gov (United States)

    Manicklal, Sheetal; Emery, Vincent C; Lazzarotto, Tiziana; Boppana, Suresh B; Gupta, Ravindra K

    2013-01-01

    Human cytomegalovirus (CMV) is a leading cause of congenital infections worldwide. In the developed world, following the virtual elimination of circulating rubella, it is the commonest nongenetic cause of childhood hearing loss and an important cause of neurodevelopmental delay. The seroprevalence of CMV in adults and the incidence of congenital CMV infection are highest in developing countries (1 to 5% of births) and are most likely driven by nonprimary maternal infections. However, reliable estimates of prevalence and outcome from developing countries are not available. This is largely due to the dogma that maternal preexisting seroimmunity virtually eliminates the risk for sequelae. However, recent data demonstrating similar rates of sequelae, especially hearing loss, following primary and nonprimary maternal infection have underscored the importance of congenital CMV infection in resource-poor settings. Although a significant proportion of congenital CMV infections are attributable to maternal primary infection in well-resourced settings, the absence of specific interventions for seronegative mothers and uncertainty about fetal prognosis have discouraged routine maternal antibody screening. Despite these challenges, encouraging results from prototype vaccines have been reported, and the first randomized phase III trials of prenatal interventions and prolonged postnatal antiviral therapy are under way. Successful implementation of strategies to prevent or reduce the burden of congenital CMV infection will require heightened global awareness among clinicians and the general population. In this review, we highlight the global epidemiology of congenital CMV and the implications of growing knowledge in areas of prevention, diagnosis, prognosis, and management for both low (50 to 70%)- and high (>70%)-seroprevalence settings.

  5. Demographic features of subjects with congenital glaucoma

    Science.gov (United States)

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

    2014-01-01

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

  6. Audio-Tactile Integration in Congenitally and Late Deaf Cochlear Implant Users

    Science.gov (United States)

    Nava, Elena; Bottari, Davide; Villwock, Agnes; Fengler, Ineke; Büchner, Andreas; Lenarz, Thomas; Röder, Brigitte

    2014-01-01

    Several studies conducted in mammals and humans have shown that multisensory processing may be impaired following congenital sensory loss and in particular if no experience is achieved within specific early developmental time windows known as sensitive periods. In this study we investigated whether basic multisensory abilities are impaired in hearing-restored individuals with deafness acquired at different stages of development. To this aim, we tested congenitally and late deaf cochlear implant (CI) recipients, age-matched with two groups of hearing controls, on an audio-tactile redundancy paradigm, in which reaction times to unimodal and crossmodal redundant signals were measured. Our results showed that both congenitally and late deaf CI recipients were able to integrate audio-tactile stimuli, suggesting that congenital and acquired deafness does not prevent the development and recovery of basic multisensory processing. However, we found that congenitally deaf CI recipients had a lower multisensory gain compared to their matched controls, which may be explained by their faster responses to tactile stimuli. We discuss this finding in the context of reorganisation of the sensory systems following sensory loss and the possibility that these changes cannot be “rewired” through auditory reafferentation. PMID:24918766

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

    Science.gov (United States)

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

    2015-05-01

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

  8. Accelerate Genomic Aging in Congenital Neutropenia

    Science.gov (United States)

    2017-10-01

    clonal hematopoiesis in congenital neutropenia. Blood, in press. Abstracts: Xia, J., Shimamura A, Myers, K.C., Boxer L.A., Dale, D.C., Ramesh, A...contribution to the project: Dr. Larry Boxer provide coded human blood or bone marrow samples from patients with congenital neutropenia. No changes 8...Akiko Shimamura, M.D., Ph.D.14, Laurence A. Boxer , M.D.6, and Daniel C. Link, M.D1#. 1Department of Internal Medicine, Division of Oncology, Washington

  9. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  10. Congenital Bimelic Hypertrophy of the Hands

    Directory of Open Access Journals (Sweden)

    Tugba Kalay

    2016-02-01

    Full Text Available Congenital hypertrophy of the hand is a rare phenomenon. The condition is characterized by hypertrophy of muscles, varies in severity and has been reported under different names. Some patients also have aberrant muscles. Electromyography is unremarkable, and the signal intensity on MRI and ultrasound is normal. The etiology is unknown and does not seem to be confined to a peripheral nerve, part of the plexus or nerve root. The condition is assumed to be congenital. We report a 28-year-old male with asymmetric hypertrophy of both hands and give a review of the 4 other cases known so far.

  11. Straight line closure of congenital macrostomia

    Directory of Open Access Journals (Sweden)

    Schwarz Richard

    2004-01-01

    Full Text Available The results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

  12. Reduced taste sensitivity in congenital blindness

    DEFF Research Database (Denmark)

    Gagnon, Lea; Kupers, Ron; Ptito, Maurice

    2013-01-01

    thresholds of the 5 basic tastants in 13 congenitally blind and 13 sighted control subjects. Participants also answered several eating habits questionnaires, including the Food Neophobia Scale, the Food Variety Seeking Tendency Scale, the Intuitive Eating Scale, and the Body Awareness Questionnaire. Our...... further indicate that blind subjects more strongly rely on internal hunger and satiety cues, instead of external contextual or emotional cues, to decide when and what to eat. We suggest that the lower taste sensitivity observed in congenitally blind individuals is due to various blindness...

  13. Netherton syndrome associated with idiopathic congenital hemihypertrophy.

    Science.gov (United States)

    Yerebakan, Ozlem; Uğuz, Ayşen; Keser, Ibrahim; Lüleci, Güven; Ciftçioğlu, Mehmet Akif; Başaran, Erdal; Alpsoy, Erkan

    2002-01-01

    Netherton syndrome is a rare genodermatosis comprised of anichthyosiform dermatitis, hair shaft defects, and atopic features. Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. We describe an 18-month-old girl with Netherton syndrome who had idiopathic congenital hemihypertrophy on her right side with contralateral benign nephromegaly in addition to the characteristic clinical signs of the syndrome. To our knowledge, this is the first case of Netherton syndrome associated with idiopathic congenital hemihypertrophy to be reported.

  14. A virilized patient with congenital hemihypertrophy.

    Science.gov (United States)

    Mark, S; Clark, O H; Kaplan, R A

    1994-10-01

    An 18 year old woman with congenital hemihypertrophy of her left side, presented with the rapid onset of virilism, hypertension and a cushingoid appearance. A computed tomographic examination revealed adrenal and hepatic masses. Adrenocortical carcinoma was confirmed by surgical pathology. Hemihypertrophy is linked to a variety of benign and malignant disorders that usually appear during childhood. These disorders include adrenocortical carcinoma and hepatoblastoma. We bring this case to clinical attention to increase awareness that adult patients with congenital hemihypertrophy are still at a significant risk of developing neoplasms.

  15. Lamellar congenital ichthyosis in practice of dermatologists

    Directory of Open Access Journals (Sweden)

    S. V. Koshkin

    2016-01-01

    Full Text Available The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and eklabium are frequently marked. After some time cracks appear, the film turns into large squamas, which exfoliate completely in 1.5 months, and so the clinical picture of congenital ichthyosis is formed. Timely initiated therapy, including external moisturizers and lipid-replenishing funds, contributed to the rapid relief of clinical symptoms and infectious-inflammatory process.

  16. Congenital nephrotic syndrome. Gallium-67 imaging

    International Nuclear Information System (INIS)

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

    1988-01-01

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

  17. PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2013-01-01

    Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

  18. Pattern of Congenital Musculoskeletal Abnormalities in South West ...

    African Journals Online (AJOL)

    Eighty one were males while 42 were females with a M:F= 2:1 Congenital talipes equinovarus(CTEV) deformity was the most common congenital musculoskeletal anomaly in 64(52.0%) patients. Others were Polydactyly 16 (13.0%) and syndactyly 11(8.9%). Other common congenital orthopaedic anomalies encountered ...

  19. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle

    Energy Technology Data Exchange (ETDEWEB)

    Raman, Subha; Takhtani, Deepak; Wallace, E.C. [UMass Memorial Medical Center, Department of Radiology, Worcester, MA (United States)

    2009-01-15

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI. (orig.)

  20. Symptoms of Autism among Children with Congenital Deafblindness

    Science.gov (United States)

    Dammeyer, Jesper

    2014-01-01

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

  1. Primary Congenital Glaucoma in Kano, Northern Nigeria | Lawan ...

    African Journals Online (AJOL)

    Primary congenital glaucoma is one of the causes of childhood blindness and it appears to be common in our environment. This study evaluated the pattern of presentation and management of primary congenital glaucoma in children. This was a prospective questionnaire-based study of primary congenital glaucoma

  2. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    NARCIS (Netherlands)

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

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

  3. Congenital tuberculosis: A case report and review of the literature ...

    African Journals Online (AJOL)

    Congenital tuberculosis: A case report and review of the literature. O Peterside, OO Adeyemi, OE Kunle - Olowu, FO Akinbami, J Omene, AD Frances. Abstract. Congenital tuberculosis (TB) is a rare infection transmitted from a mother to her foetus, either through an infected placenta or amniotic fluid. Congenital tuberculosis ...

  4. Congenital Amputation Involving the Hands and Feet: A Case Report

    African Journals Online (AJOL)

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

  5. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

  8. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen

    2012-01-01

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

  9. Congenital thoracic vascular anomalies: evaluation with state-of-the-art MR imaging and MDCT.

    Science.gov (United States)

    Hellinger, Jeffrey C; Daubert, Melissa; Lee, Edward Y; Epelman, Monica

    2011-09-01

    Congenital thoracic vascular anomalies include embryologic developmental disorders of the thoracic aorta, aortic arch branch arteries, pulmonary arteries, thoracic systemic veins, and pulmonary veins. Diagnostic evaluation of these anomalies in pediatric patients has evolved with innovations in diagnostic imaging technology. State-of-the-art magnetic resonance (MR) imaging, MR angiography multidetector-row computed tomographic (MDCT) angiography, and advanced postprocessing visualization techniques offer accurate and reliable high-resolution two-dimensional and three-dimensional noninvasive anatomic displays for interpretation and clinical management of congenital thoracic vascular anomalies. This article reviews vascular MR imaging, MR angiography, MDCT angiography, and advanced visualization techniques and applications for the assessment of congenital thoracic vascular anomalies, emphasizing clinical embryology and the characteristic imaging findings. Copyright © 2011 Elsevier Inc. All rights reserved.

  10. Maternal and Congenital Toxoplasmosis, Currently Available and Novel Therapies in Horizon

    Directory of Open Access Journals (Sweden)

    Helieh S Oz

    2014-07-01

    Full Text Available Over one billion people worldwide are predicted to harbor Toxoplasma infection frequently with unknown lifelong health consequences. Toxoplasmosis is an important cause of foodborne, inflammatory illnesses, as well as congenital abnormalities. Ubiquitous Toxoplasma has a unique tropism for central nervous system with a mind bugging effect and is transmitted sexually through semen. Current available therapies are ineffective for persistent chronic disease and congenital toxoplasmosis or have severe side effects which may result in life threatening complications. There is an urgent need for safe and effective therapies to eliminate or treat this cosmopolitan infectious and inflammatory disease. This investigation will discuss pathogenesis of maternal and congenital toxoplasmosis, the current available therapies in practice, and the experimental therapeutic modalities for promising future trials.

  11. Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers

    DEFF Research Database (Denmark)

    de Jonge, Linda; Garne, Ester; Gini, Rosa

    2015-01-01

    INTRODUCTION: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription....... Information on anti-epileptic drugs and insulins and analogue medicine use recorded by CA registries was of good quality. For selective serotonin reuptake inhibitors, anti-asthmatics, antibacterials for systemic use, and gonadotropins and other ovulation stimulants, the recorded information was less complete...... databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. METHODS: We linked data from primary care and prescription databases to five European Surveillance...

  12. Surgical treatment for a complex congenital arteriovenous malformation of the lower limb.

    Science.gov (United States)

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surgery was successful without sequelae. The patient returned 2 years later with thrombosis of the great saphenous vein and underwent a second operation. The thrombosed vein and all varicosities were excised successfully. Surgery can be an effective method for correcting complex congenital arteriovenous malformations, especially in the lower limbs. A 2-staged surgical approach like ours might be a good option in suitable patients.

  13. [Coverage by the Family Health Strategy and diagnosis of syphilis in pregnancy and congenital syphilis].

    Science.gov (United States)

    Saraceni, Valéria; Miranda, Angélica Espinosa

    2012-03-01

    This paper aimed to correlate syphilis in pregnancy and congenital syphilis with coverage of the Family Health Strategy (FHS), based on available data in the national health information systems. The syphilis notification estimates were calculated according to the Sentinel Childbirth Study for 2004 under the Ministry of Health and the data were obtained from the websites of the Health Surveillance Secretariat and Healthcare Secretariat, for the year 2008. The ratios between observed and estimated gestational syphilis and congenital syphilis were not statistically correlated with population coverage by the FHS (r = -0.28 and r = -0.40, respectively). The FHS is a privileged area for prenatal care and logically a source of compulsory notification of syphilis in pregnancy. By combining diagnosis with adequate treatment of syphilis in pregnant women and their partners, the FHS becomes a prime instrument for eliminating congenital syphilis in Brazil. Expanding the FHS coverage and quality of care are essential for achieving this goal.

  14. Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis

    Directory of Open Access Journals (Sweden)

    Alam, Md. Shahid

    2017-03-01

    Full Text Available Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery. The child was diagnosed with juvenile myasthenia gravis on thorough history, examination, and systemic evaluation and was started on anti-myasthenic treatment.

  15. Use of human protein C concentrates in the treatment of patients with severe congenital protein C deficiency

    Directory of Open Access Journals (Sweden)

    Sabine Kroiss

    2010-03-01

    Full Text Available Sabine Kroiss, Manuela AlbisettiDivision of Hematology, University Children’s Hospital, Zurich, SwitzerlandAbstract: Protein C is one of the major inhibitors of the coagulation system that downregulate thrombin generation. Severe congenital protein C deficiency leads to a hypercoagulability state that usually presents at birth with purpura fulminans and/or severe venous and arterial thrombosis. Recurrent thrombotic events are commonly seen. From the 1990’s, several virus-inactivated human protein C concentrates have been developed. These concentrates currently constitute the therapy of choice for the treatment and prevention of clinical manifestations of severe congenital protein C deficiency. This review summarizes the available information on the use of human protein C concentrates in patients with severe congenital protein C deficiency.Keywords: Congenital protein C deficiency, protein C concentrate, purpura fulminans

  16. COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review

    Directory of Open Access Journals (Sweden)

    Al-Mobarak Sulaiman Bazee

    2017-07-01

    Full Text Available Congenital Myasthenic Syndrome (CMS is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly.

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

    Science.gov (United States)

    Malik, Sajid; Afzal, Muhammad

    2013-03-01

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

  18. Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies: a cohort study.

    Science.gov (United States)

    Hjortebjerg, Dorrit; Andersen, Anne-Marie Nybo; Garne, Ester; Raaschou-Nielsen, Ole; Sørensen, Mette

    2012-08-14

    Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population. We studied associations between residential exposure to paint fumes during the 1st trimester of pregnancy and predefined subgroups of congenital anomalies, using data from the Danish National Birth Cohort (DNBC). During 2001 and 2003, a total of 20,103 pregnant women, enrolled in the DNBC, were interviewed in the 30th week of gestation about the use of paint in their residence during pregnancy. By the end of first trimester, information about smoking habits, alcohol consumption and occupation were collected. Information on congenital anomalies was obtained from national registers. Associations were examined by estimating odds ratios (OR) using logistic regression. In total 1404 women (7%) had been exposed to paint fumes during the 1st trimester of pregnancy and 1086 children were diagnosed with congenital anomalies; 73 children with congenital anomalies had been exposed to paint fumes in utero. Exposure to paint fumes seemed positively associated with congenital anomalies of the nervous system (OR 2.19, 95% confidence interval (CI) 0.76 to 6.32), ear, face and neck (OR 2.15, 95% CI 0.84 to 5.55) and the renal system (OR 2.16, 95% CI 1.02 to 4.58) after adjustment for maternal age, smoking, alcohol consumption and occupational solvent exposure. Congenital anomalies in the remaining subgroups were not associated with the exposure. Our results suggest that in the general population, exposure to paint fumes during the 1st trimester of pregnancy may increase the risk of some types of congenital anomalies, but the findings need to be confirmed.

  19. Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies: a cohort study

    Directory of Open Access Journals (Sweden)

    Hjortebjerg Dorrit

    2012-08-01

    Full Text Available Abstract Background Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population. Methods We studied associations between residential exposure to paint fumes during the 1st trimester of pregnancy and predefined subgroups of congenital anomalies, using data from the Danish National Birth Cohort (DNBC. During 2001 and 2003, a total of 20 103 pregnant women, enrolled in the DNBC, were interviewed in the 30th week of gestation about the use of paint in their residence during pregnancy. By the end of first trimester, information about smoking habits, alcohol consumption and occupation were collected. Information on congenital anomalies was obtained from national registers. Associations were examined by estimating odds ratios (OR using logistic regression. Results In total 1404 women (7% had been exposed to paint fumes during the 1st trimester of pregnancy and 1086 children were diagnosed with congenital anomalies; 73 children with congenital anomalies had been exposed to paint fumes in utero. Exposure to paint fumes seemed positively associated with congenital anomalies of the nervous system (OR 2.19, 95% confidence interval (CI 0.76 to 6.32, ear, face and neck (OR 2.15, 95% CI 0.84 to 5.55 and the renal system (OR 2.16, 95% CI 1.02 to 4.58 after adjustment for maternal age, smoking, alcohol consumption and occupational solvent exposure. Congenital anomalies in the remaining subgroups were not associated with the exposure. Conclusions Our results suggest that in the general population, exposure to paint fumes during the 1st trimester of pregnancy may increase the risk of some types of congenital anomalies, but the findings need to be confirmed.

  20. Antenatal diagnosis of the congenital craniopharyngioma

    International Nuclear Information System (INIS)

    Jurkiewicz, E.; Bekiesinska-Figatowska, M.; Duczkowski, M.; Grajkowska, W.; Roszkowski, M.; Czech-Kowalska, J.; Dobrzanska, A.

    2010-01-01

    Background: Craniopharyngioma is a rare fetal and neonatal tumor. Case Report: We report a case of a congenital craniopharyngioma diagnosed by prenatal magnetic resonance. This diagnosis was confirmed by postnatal MR imaging, neurosurgical treatment and histopathological examination. Conclusions: Outcome of neonatal craniopharyngioma is very poor, even if radical surgery is performed. The main problems are pituitary insufficiency, diabetes insipidus, and visual disturbance. (authors)

  1. [A girl with congenital hemifacial hypertrophy

    NARCIS (Netherlands)

    Broeke, S.M. van den; Wolvius, E.B.; Adrichem, L.N. van; Baat, C. de

    2006-01-01

    A girl with congenital hemifacial hypertrophy had been observed and treated by a multidisciplinary team for craniofacial disorders in an academic medical centre since birth. At the age of 8 she was treated on account of considerable facial asymmetry and multiple intraoral problems. The two-step

  2. Frequency of congenital malformations and chromosomal disorders ...

    Indian Academy of Sciences (India)

    2015-12-03

    Dec 3, 2015 ... are different in area, number of inhabitants, level of economic and social development, etc. The data ... [Popa C.-E. and Ghiorghit˘a G. 2015 Frequency of congenital malformations and chromosomal disorders in Bacau and Vaslui counties .... avoiding an abnormal neuro-motor development of a child.

  3. Experience with the Management of Congenital Diaphragmatic ...

    African Journals Online (AJOL)

    Those who did not undergo surgery had lower Apgar scores and higher incidence of associated congenital malformations than the patients who underwent surgical repairs. The differences in the mean of 5 minute Apgar scores among the three groups were not statistically significant (p> 0.05). Age at surgery was higher in ...

  4. DNA methylation abnormalities in congenital heart disease.

    Science.gov (United States)

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  5. Congenital Central Hypoventilation Syndrome And Intestinal

    African Journals Online (AJOL)

    to progressive hypercapnia and sustained hypoxaemia. Neonates with this condition experience hypoventilation or apnoea while asleep. Patients may also have congenital intestinal aganglionosis (CIA), aganglionic megacolon or Hirschsprung's disease, suggesting an aberrant phenotype arising from a defect of migration ...

  6. Case Report: Congenital Thyrotoxicosis | Ibeziako | Tropical Journal ...

    African Journals Online (AJOL)

    A case of a preterm neonate with congenital thyrotoxicosis is reported. Her mother had thyrotoxicosis which was diagnosed at 27 weeks gestation, and was treated with propranolol and carbimazole. The diagnosis of thyrotoxicosis in the neonate was confirmed by an elevated serum tri-iodo-thyronine (T3) level of 6.7 nmol/L, ...

  7. Challenges of congenital malformations: an African perspective

    African Journals Online (AJOL)

    2017-04-02

    Apr 2, 2017 ... anomaly screening program in a Nigerian university hospital: redefining obstetrics practice in a developing African country. Niger Med J 2015;. 56:263. 39 Bouman N. The psychosocial adjustment of children with major congenital abdominal anomalies [PhD thesis]. Rotterdam: Erasmus University; 1999.

  8. Frequency of congenital malformations and chromosomal disorders ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 94; Issue 4 ... congenital malformations; chromosomal disorders; frequency; human populations. Abstract. This paper presents the state of genetic health of the human populations in two Romanian counties, Bacau and Vaslui, as they are different in area, number of inhabitants, ...

  9. Genetics Home Reference: congenital myasthenic syndrome

    Science.gov (United States)

    ... in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or ... weakness, and delayed development of motor skills. The respiratory problems in congenital myasthenic syndrome result from impaired movement of the muscles of ...

  10. Drug safety in pregnancy - monitoring congenital anomalies

    NARCIS (Netherlands)

    Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

    Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored

  11. Radiological findings of congenital urethral valves

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Kook, Shin Ho

    1990-01-01

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

  12. Congenital myopathy with fiber type disproportion

    DEFF Research Database (Denmark)

    Gerdes, A M; Petersen, M B; Schrøder, H D

    1994-01-01

    A patient with myopathy and congenital fiber type disproportion presented at birth with arthrogryposis multiplex congenita, dislocation of the hips and mild scoliosis. Later in life she developed marked muscle weakness. A balanced chromosomal translocation t(10;17) (p11.2;q25), transmitted...

  13. Trabeculectomy for Congenital Glaucoma in University College ...

    African Journals Online (AJOL)

    Introduction: Congenital glaucoma is an uncommon ocular condition affecting about 1/15,000 live births. About two third of cases are bilateral with a higher prevalence in males. The definitive treatment requires surgery which could be trabeculectomy, trabeculotomy, goniotomy, drainage tubes or a combination of ...

  14. Dermatoglyphic’s in Congenital Cardiac Disease

    Directory of Open Access Journals (Sweden)

    Singh Brijendra

    2016-03-01

    Full Text Available Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD, 60 cases of Atrial Septal Defects (ASD, 9 cases of Coarctation of Aorta (COA & 9 cases of Tetralogy of Fallot’s (TOF. Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8% with decrease in loop pattern (36.2% as compared to those of controls and the difference was highly significant (P<0.001. The difference in the mean total finger ridge count (TFRC of the controls and of the cases of Congenital Cardiac Diseases (CCD was found to be highly significant (P<0.001, while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  15. 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 have...

  16. Congenital cystic adenomatoid malformation: case report | Wafula ...

    African Journals Online (AJOL)

    Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as severe progressive respiratory distress in the neonate secondary to expansion of the affected lung. We present a neonate in whom this condition was diagnosed and managed at the Aga Khan University Hospital. In presenting ...

  17. Genetics Home Reference: congenital central hypoventilation syndrome

    Science.gov (United States)

    ... Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: ... Citation on PubMed Axelrod FB, Chelimsky GG, Weese-Mayer DE. Pediatric autonomic disorders. Pediatrics. 2006 Jul;118( ...

  18. Employment in adults with congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, Mascha; Vogels, Ton; Ottenkamp, Jaap; van der Wall, Ernst E.; Verloove-Vanhorick, S. Pauline; Vliegen, Hubert W.

    2002-01-01

    To evaluate job participation, career-related problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Cross-sectional study. Patients were randomly selected from the archives of the Department of Pediatric

  19. Congenital granular cell lesion in newborn mandible

    African Journals Online (AJOL)

    2011-07-06

    ) or 'congenital epulis' is a rare lesion found in newborns also known as. Neumann's tumor; the word “Epulis” is derived from a Greek word and means “on the gum” or gum boil.[1] Since its first description by Neumann in 1871, ...

  20. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    Science.gov (United States)

    Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

    2016-01-01

    The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible. © 2016 S. Karger AG, Basel.

  1. Medullary sponge kidney associated with congenital hemihypertrophy.

    Science.gov (United States)

    Indridason, O S; Thomas, L; Berkoben, M

    1996-08-01

    Medullary sponge kidney is a developmental disorder characterized by ectatic and cystic malformation of the collecting ducts and tubules. Clinical manifestations include urinary tract infections, renal stones, and hematuria. It can be associated with other developmental disorders. A case of medullary sponge kidney associated with congenital hemihypertrophy, complicated by nephrocalcinosis and nephrolithiasis, is reported here.

  2. Congenital methemoglobinemia. Report of a case

    Directory of Open Access Journals (Sweden)

    Zárate Aspiros Romeo

    2014-07-01

    Full Text Available Methemoglobinemia is a condition in which there are high blood levels of methemoglobin. It may be congenital or acquired. The congenital form (which is rare is the result of a defect in the methemoglobin reductase enzyme, dependent of the nicotinamide adenine dinucleotide phosphate reduced (NADPH; it is also caused by hemoglobinopathies. Congenital methemoglobinemia type 2 constitutes 10% of all cases and is usually fatal in early life. Its main feature is progressive neurological deterioration associa- ted with mental retardation, microcephaly, opisthotonos, athetotic movements, and generalized hypertonia. We report the case of a newborn with cyanosis from birth in whom perinatal hypoxia, pulmonary disease, heart failure and sepsis were ruled out, hence methemoglobin levels were requested, which led to the diagnosis of congenital methemoglobinemia based on a methemoglobin of 29.6%. Methemoglobin values were investigated in his 2 years old brother, who was cyanotic and showed progressive psychomotor retardation from birth; his methemoglobin was 30%. We concluded that both patients had type 2 hereditary methemoglobinemia in view of the severe neu- rological disorders of the older brother. Treatment with ascorbic acid was initiated in both siblings, resulting in the disappearance of cyanosis in the newborn.

  3. Employment in adults with congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, M.; Vogels, T.; Ottenkamp, J.; Wall, E.E. van der; Verloove-Vanhorick, S.P.; Vliegen, H.W.

    2002-01-01

    Objective: To evaluate job participation, careerrelated problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Design: Cross-sectional study. Setting: Patients were randomly selected from the archives of the

  4. Congenital pyloric atresia: clinical features, diagnosis, associated ...

    African Journals Online (AJOL)

    Congenital pyloric atresia: clinical features, diagnosis, associated anomalies, management and outcome. ... Conclusion: CPA is a very rare malformation that can be familial and inherited as an autosomal recessive. It can either occur as an isolated lesion with an excellent prognosis, or be associated with other anomalies.

  5. [Congenital toxoplasmosis: severe ocular and neurological complications

    NARCIS (Netherlands)

    Hoekstra, F.; Buzing, C.; Sporken, J.M.J.; Erasmus, C.E.; Flier, M. van der; Semmekrot, B.A.

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased

  6. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

    2010-01-01

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  7. Congenital Pseudoarthrosis of the clavicle - Case report

    International Nuclear Information System (INIS)

    Holguin Maldonado, Esteban; Rossellli Cock, Pablo

    2006-01-01

    Congenital pseudoarthrosis of the clavicle (CPC) is a tare malformation of the scapular waist of unknown etiology. The lesion is usually unilateral and right sided. It is seldom symptomatic and X rays confirm the diagnosis. Treatment is usually non surgical, unless functional or cosmetic compromise of the shoulder is present

  8. Congenital malformations prevalent among Egyptian children and ...

    African Journals Online (AJOL)

    According to the World Health Organization the term congenital anomaly includes any morphological, functional, biochemical or molecular defects that may develop in the embryo and fetus from conception until birth, present at birth, whether detected at that time or not. Based on World Health Organization report, about 3 ...

  9. Congenital lung malformations: correlation between prenatal and ...

    African Journals Online (AJOL)

    Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

  10. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...

  11. Underdiagnosis of Mild Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

    Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal

  12. First Trimester Ultrasound Screening for Congenital Abnormalities ...

    African Journals Online (AJOL)

    approach used, especially with the introduction of first trimester ultrasound as a reliable screening method. Objective: To give a comprehensive review of the basis for first trimester ultrasound screening for congenital abnormalities, it's utilization in the prenatal screening for chromosomal, structural and genetic abnormalities ...

  13. The right side in congenital heart disease

    NARCIS (Netherlands)

    Schuuring, M.J.

    2014-01-01

    Life expectancy of children with congenital heart disease (CHD) has increased dramatically during the past years, due to the successes of cardiac surgery. At present, nearly all of these children with CHD can be operated at young age and more than 90% reach adulthood. At adult age, however, many

  14. Prenatal Ultrasonographic Diagnosis Of Congenital Multiple Ileal ...

    African Journals Online (AJOL)

    Ileal atresia is an uncommon congenital lesion that results from intra-uterine ischemia and less commonly, from in-utero obstruction like intussusception, malrotation and internal hernia. Multiple atresias are less common and are usually diagnosed within the first 24 hours of life. The age at presentation is one to thirty days.

  15. Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma

    OpenAIRE

    Kawasaki, Yukako; Makimoto, Masami; Nomura, Keiko; Hoshino, Akihiro; Hamashima, Takeru; Hiwatari, Mitsuteru; Nakazawa, Atsuko; Takita, Junko; Yoshida, Taketoshi; Kanegane, Hirokazu

    2014-01-01

    Key Clinical Message We describe a neonate with abdominal distension, massive hepatomegaly, and high serum neuron-specific enolase level suggestive of congenital neuroblastoma. The patient died of pulmonary hemorrhage after therapy. Autopsy revealed that the tumor cells in the liver indicated acute megakaryocytic leukemia with the RBM15-MKL1 fusion gene.

  16. Challenges of congenital malformations: an African perspective ...

    African Journals Online (AJOL)

    Background: Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and religion. Worldwide historically, the role of the supernatural had been in ...

  17. Management of congenital esophageal stenosis associated with ...

    African Journals Online (AJOL)

    Aim The aim of this work was to study the incidence, management of congenital esophageal stenosis (CES) associated with esophageal atresia (EA) and tracheoesophageal fistula (TEF), and its impact on esophageal stricture (ES) after primary repair. Patients and methods From January 2006 to December 2014, ...

  18. Congenital heart disease in the dog

    International Nuclear Information System (INIS)

    Matic, S.E.

    1988-01-01

    The clinical findings and investigation of dogs with congenital cardiac disease is described and the role of diagnostic aids including radiography, electrocardiography and echocardiography is outlined. The physical findings, prognosis and therapy of the common defects are reviewed and their aetiology is briefly discussed

  19. impairs gap junction function causing congenital cataract

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... Connexin 46 (Cx46) is important for gap junction channels formation which plays crucial role in the preservation of lens homeostasis and transparency. Previously, we have identified a missense mutation. (p.V44M) of Cx46 in a congenital cataract family. This study aims at dissecting the potential.

  20. Accelerate Genomic Aging in Congenital Neutropenia

    Science.gov (United States)

    2016-08-01

    colony-stimulating factor; Acute myeloid leukemia ; Myelodysplastic syndrome 16. SECURITY CLASSIFICATION OF: U 17. LIMITATION OF ABSTRACT 18. NUMBER OF...transformation to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital neutropenia. We hypothesize that...responsible for the markedly increased risk of transformation to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with