Introducing an Intervention Model for Fostering Affective Involvement with Persons Who Are Congenitally Deafblind

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Martens, M.A.W.; Janssen, M.J.; Ruijssenaars, A.J.J.M.; Riksen-Walraven, J.M.A.

2014-01-01

The article presented here introduces the Intervention Model for Affective Involvement (IMAI), which was designed to train staff members (for example, teachers, caregivers, support workers) to foster affective involvement during interaction and communication with persons who have congenital

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

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

2013-01-01

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

[Congenital dislocation of the knee: report of 2 cases].

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Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

2015-01-01

Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

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Metwalley Kotb

2012-12-01

Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

Introducing an Intervention Model for Fostering Affective Involvement with Persons Who Are Congenitally Deafblind

Science.gov (United States)

Martens, Marga A. W.; Janssen, Marleen J.; Ruijssenaars, Wied A. J. J. M.; Riksen-Walraven, J. Marianne

2014-01-01

The article presented here introduces the Intervention Model for Affective Involvement (IMAI), which was designed to train staff members (for example, teachers, caregivers, support workers) to foster affective involvement during interaction and communication with persons who have congenital deaf-blindness. The model is theoretically underpinned,…

The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reports.

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Tözüm, Tolga Fikret; Berker, Ezel; Ersoy, Fügen; Tezcan, Iihan; Sanal, Ozden

2003-03-01

Congenital neutropenia is characterized by a severe reduction in absolute neutrophil counts, resulting in an almost total absence of neutrophils. It is well known that severe neutropenia affects periodontal status. Oral manifestations include ulcerations, gingival desquamation, gingival inflammation, attachment loss, and alveolar bone loss which may result in tooth loss. Treatment with granulocyte-colony stimulating factor (G-CSF) may improve this periodontal condition. This article reports the relationship between periodontal disease status and peripheral neutrophil levels in two consanguineous siblings with severe congenital neutropenia who did not receive routine G-CSF for 2 years prior to examination. Both siblings were given scaling, root planing, and periodontal prophylaxis in regular follow-up visits. This report demonstrates that periodontal therapy supported by adequate oral hygiene may result in restoration of neutrophil counts in siblings with congenital neutropenia.

Congenital epulides: A rare case report

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Saurabh Kumar

2014-01-01

Full Text Available Congenital epulis (CE or "Granular cell epulis" also previously termed as "Neumann′s tumor" is a benign growth arising from the mucosa of the gingiva, typically seen as a mass protruding from the infant′s mouth, often interfering with respiration and feeding. These tumors generally present as a single mass arising from the upper alveolus. We report a rare case of two congenital epulides arising from the maxillary and mandibular alveolus in a day old female infant, which was surgically excised, allowing for early initiation of breast feeding. The tumor cells stained negative for S100 protein hence differentiating from other granular cell tumors. The clinical presentation, differential diagnosis in regard to the various neonatal oral swellings and the management of CE has been discussed.

Congenital extraskeletal Ewing's sarcoma of chest wall--a rare case report.

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Atla, Bhagyalakshmi; Prasad, B Satya Vara; Sri, K Satya; Vandana, Geeta

2011-01-01

Congenital extraskeletal Ewing's sarcoma or peripheral primitive neuroectodermal tumor is an extremely uncommon and invariably fatal tumor. We report a case of extraskeletal congenital Ewing's sarcoma in a female fetus delivered at 34 weeks of gestation who died immediately after birth. In English literature, majority of cases of Ewing's sarcoma in neonates reported were skeletal. To the best of our knowledge, very few cases of extra-skeletal Ewing's sarcoma in neonates are reported in the literature.

Intervening on Affective Involvement and Expression of Emotions in an Adult with Congenital Deafblindness

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Martens, Marga A. W.; Janssen, Marleen J.; Ruijssenaars, Wied A. J. J. M.; Huisman, Mark; Riksen-Walraven, J. Marianne

2014-01-01

This study examined the effects of a 20-week intervention to foster affective involvement during interaction and communication between an adult with congenital deafblindness (CDB) and his caregivers in a group home and a daytime activities center. Using a single-subject design, we examined whether the intervention increased affective involvement…

Congenital eversion of upper eyelids: Case report and management

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Maheshwari Rajat

2006-01-01

Full Text Available Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down′s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of congenital bilateral severe upper eyelid eversion in a normal infant, born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching.

Congenital Cytomegalovirus Infection After Recurrent Maternal Infection: Report of a Case

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Özgür Olukman

2005-06-01

Full Text Available Cytomegalovirus (CMV is a double- stranded DNA virus in the Herpesvirus family, and it is a common cause of congenital viral infections. Congenital CMV infection is transmitted from the mother with viremia to the fetus via the placenta. Disease may result from a primary or recurrent maternal infection but the former is a common cause of severe disease. The risk for fetal infection is grater in primary maternal infection. We report a newborn infant with symptomatic congenital CMV infection associated with\trecurrent maternal infection.

Congenital amusias.

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Tillmann, B; Albouy, P; Caclin, A

2015-01-01

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

Early treatment of congenital syngnathia. A case report

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Eduardo Alfredo Duro

2018-02-01

Full Text Available Congenital syngnathia is a rare malformation. The synechia or synostosis of the maxilla and the mandible may be partial or complete and also be associated with other malformations. The syngnathia can be developed between the upper and lower alveolar ridges with a wide spectrum and range of severity documented in case reports. The authors report a newborn with complete syngnathia and discuss the management during the first days of life. Our goal is to help attending physicians understand anatomic and functional implications of syngnathia, and become familiar with strategies used in the early caring of a newborn with congenital syngnathia. Literature reveals results of different patients with poorly documented follow-up and different management. The priority is a safe airway and early nutrition with human milk to avoid the risk of aspiration pneumonia, malnutrition, and poor growth.

Congenital cytomegalovirus related intestinal malrotation: a case report.

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Colomba, Claudia; Giuffrè, Mario; La Placa, Simona; Cascio, Antonio; Trizzino, Marcello; De Grazia, Simona; Corsello, Giovanni

2016-12-07

Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy. At birth the neonate showed clinical and radiological evidence of intestinal obstruction. Meconium passed only after evacuative nursing procedures; stooling pattern was irregular; gastric residuals were bile-stained. Laparatomy revealed a complete intestinal malrotation and contextually gastrointestinal biopsy samples of the appendix confirmed the diagnosis of CMV gastrointestinal disease. Intravenous ganciclovir was initiated for 2 weeks, followed by oral valgancyclovir for 6 month. CMV-induced proinflammatory process may be responsible of the interruption of the normal development of the gut or could in turn lead to a disruption in the normal development of the gut potentiating the mechanism causing malrotation. We suggest the hypothesis that an inflammatory process induced by CMV congenital infection may be responsible, in the early gestation, of the intestinal end-organ disease, as the intestinal malrotation. CMV infection should always be excluded in full-term infants presenting with colonic stricture or malrotation.

[An uncommon cause of hypocalcemic convulsion: congenital rickets. Case report].

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Karabel, Duran; Karabel, Musemma; Yilmaz, Ayse Esra; Tas, Tugba; Karayel, Metin

2012-12-01

Vitamin D deficiency and rickets are major health problems in developing countries. Congenital rickets is a rare form of rickets. Maternal vitamin D deficiency is the most important risk factor for vitamin D deficiency and rickets in newborns and early infancy. In this report, we presented a two-month old infant with seizures while hospitalized for pulmonary infection. Finally, congenital rickets due to maternal vitamin D deficiency was diagnosed.

Prevalence of congenital amusia.

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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.

Congenital extraskeletal Ewing′s sarcoma of chest wall - A rare case report

OpenAIRE

Bhagyalakshmi Atla; B Satya Vara Prasad; K Satya Sri; Geeta Vandana

2011-01-01

Congenital extraskeletal Ewing′s sarcoma or peripheral primitive neuroectodermal tumor is an extremely uncommon and invariably fatal tumor. We report a case of extraskeletal congenital Ewing′s sarcoma in a female fetus delivered at 34 weeks of gestation who died immediately after birth. In English literature, majority of cases of Ewing′s sarcoma in neonates reported were skeletal. To the best of our knowledge, very few cases of extra-skeletal Ewing′s sarcoma in neonates are reported in the li...

Congenital extraskeletal Ewing′s sarcoma of chest wall - A rare case report

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Bhagyalakshmi Atla

2011-01-01

Full Text Available Congenital extraskeletal Ewing′s sarcoma or peripheral primitive neuroectodermal tumor is an extremely uncommon and invariably fatal tumor. We report a case of extraskeletal congenital Ewing′s sarcoma in a female fetus delivered at 34 weeks of gestation who died immediately after birth. In English literature, majority of cases of Ewing′s sarcoma in neonates reported were skeletal. To the best of our knowledge, very few cases of extra-skeletal Ewing′s sarcoma in neonates are reported in the literature.

Age of diagnosis for congenital hearing loss at Universitas Hospital ...

African Journals Online (AJOL)

Background. Congenital hearing loss affects 3 - 6/1 000 children worldwide. The benefits of early identification of hearing loss and early intervention have been clearly established. There are no previous studies reporting on the age of diagnosis of congenital hearing loss in the Free State province. Objectives. To determine ...

Emerging Research Directions in Adult Congenital Heart Disease: A Report from a National Heart, Lung, and Blood Institute/Adult Congenital Heart Association Working Group

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Gurvitz, Michelle; Burns, Kristin M.; Brindis, Ralph; Broberg, Craig S.; Daniels, Curt J.; Fuller, Stephanie M.P.N.; Honein, Margaret A.; Khairy, Paul; Kuehl, Karen S.; Landzberg, Michael J.; Mahle, William T.; Mann, Douglas L.; Marelli, Ariane; Newburger, Jane W.; Pearson, Gail D.; Starling, Randall C.; Tringali, Glenn R.; Valente, Anne Marie; Wu, Joseph C.; Califf, Robert M.

2016-01-01

Congenital heart disease (CHD) is the most common birth defect, affecting about 0.8% of live births. Advances in recent decades have allowed >85% of children with CHD to survive to adulthood, creating a growing population of adults with CHD. Little information exists regarding survival, demographics, late outcomes, and comorbidities in this emerging group, and multiple barriers impede research in adult CHD (ACHD). The National Heart, Lung, and Blood Institute and the Adult Congenital Heart Association convened a multidisciplinary Working Group to identify high-impact research questions in ACHD. This report summarizes the meeting discussions in the broad areas of CHD-related heart failure, vascular disease and multisystem complications. High-priority subtopics identified included heart failure in tetralogy of Fallot, mechanical circulatory support/transplantation, sudden cardiac death, vascular outcomes in coarctation of the aorta, late outcomes in single ventricle disease, cognitive and psychiatric issues, and pregnancy. PMID:27102511

Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.

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Ríos-Méndez, Raúl Enrique; Lozano Chinga, Michell Marola

2016-10-07

Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.

Discordant clinical outcomes of congenital Zika virus infection in twin pregnancies

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Vanessa van der Linden

Full Text Available ABSTRACT Congenital Zika syndrome is an emergent cause of a congenital infectious disorder, resulting in severe damage to the central nervous system and microcephaly. Despite advances in understanding the pathophysiology of the disease, we still do not know all the mechanisms enrolled in the vertical transmission of the virus. As has already been reported in other types of congenital infectious disorders in dizygotic twin pregnancies, it is possible that the virus affects only one of the fetuses. In this article, we report on two cases of twin pregnancies exposed to the Zika virus, but with only one of the fetuses affected with microcephaly and brain damage. This indicates the urgent need for more studies regarding the pathophysiology of viral infection and the mechanisms involved in the natural protection against the virus.

Congenital Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor: A Case Report and Review of the Literature

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Shu-Guang Jin

2016-10-01

Full Text Available Ewing's sarcoma (EWS and peripheral primitive neuroectodermal tumor (pPNET are small round cell malignancies that develop in soft tissue and bone. They very rarely affect newborns. A diagnosis of EWS/pPNET depends mainly on immunohistochemistry and molecular/genetic assays. Since these tumors are highly aggressive, patient prognosis is typically very poor, and treatment remains a challenge. Here, we report a 13-day-old newborn diagnosed with congenital EWS/pPNET and describe its treatment.

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

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Kazandjieva Jana

2016-03-01

Full Text Available Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder.

Orofacial manifestations of congenital hypothyroidism: Clinicoradiological case report

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Gundareddy N Suma

2014-01-01

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

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.)

Applying the Intervention Model for Fostering Affective Involvement with Persons Who Are Congenitally Deafblind: An Effect Study

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Martens, Marga A. W.; Janssen, Marleen J.; Ruijssenaars, Wied A. J. J. M.; Huisman, Mark; Riksen-Walraven, J. Marianne

2014-01-01

Introduction: In this study, we applied the Intervention Model for Affective Involvement (IMAI) to four participants who are congenitally deafblind and their 16 communication partners in 3 different settings (school, a daytime activities center, and a group home). We examined whether the intervention increased affective involvement between the…

Columellar sinus: A rare congenital isolated sinus

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Anindita Datta

2016-07-01

Full Text Available Midline congenital malformation of the nose is a very rare presentation and it's midline situation seems curious and is very difficult to explain on the basis of the present day conception of the embryology of the nose. The prevalence of lower lip sinuses has been estimated to be about 0.001 % of the general population. Upper lip sinuses are even more uncommon. We herein report a case of a 13 years old girl having congenital sinus affecting the upper part of the columella.

Congenital Absence of Left Circumflex Artery Detected by Computed Tomography Coronary Angiography: A Case Report

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Keerati Hongsakul

2012-01-01

Full Text Available The congenital absence of the left circumflex artery (LCx is a very rare congenital anomaly of coronary arteries, but it is benign. Currently, the best modality for the diagnosis of coronary anomalies is computed tomography coronary angiography (CTCA. We report a case of congenitally absent LCx with an atypical chest pain.

A case report of congenital coronary artery fistula to the left ventricle

International Nuclear Information System (INIS)

Lee, Byung Hee; Yu, Shi Joon; Moon, Eon Soo; Kim, Sam Hyun; Choi, Young Hi

1987-01-01

Congenital coronary artery fistula is a rare malformation with an incidence of 0.4% of congenital heart disease. Among the various subtypes, fistula to the left ventricle is extremely rare with 6 reported cases till 1983. We present a case of coronary artery fistula between the right coronary artery and the left ventricle. The dilated right coronary artery formed a mass like bulging the right lower heart border in the plain chest PA, we think this is first case with a coronary artery fistula to the left ventricle, reported in Korea

Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

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N. S. Kamakeri

2016-10-01

Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.

Congenital double-double lip: A rare case report

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Swati Phore

2017-01-01

Full Text Available A double lip is a rare anomaly characterized by a horizontal fold of redundant mucosal tissue that is situated proximal to the vermilion border. It may be either congenital or acquired and has no gender or race predilection. It occurs most often in the upper lip, although both upper and lower lips are occasionally involved. Surgical intervention (simple excision produces good functional and cosmetic results. In this report, a case of a nonsyndromic congenital maxillary double upper lip and lower lip, both are described. Double lip is of special interest in dental profession as a dental surgeon is normally the first one to diagnose this rare and uncommon condition. Authors hereby discuss a very rare condition in which both upper and lower lips are involved.

The multiple brain abscesses associated with congenital pulmonary arteriovenous malformations: a case report.

OpenAIRE

Han, Seok; Lim, Dong-Jun; Chung, Yong-Gu; Cho, Tai-Hyoung; Lim, Seong-Jun; Kim, Woo-Jae; Park, Jung-Yul; Suh, Jung-Keun

2002-01-01

In this report, we describe a case of multiple brain abscesses associated with diffuse congenital pulmonary arteriovenous malformations (PAVM). Although the cases of brain abscesses associated with congenital PAVM are very rare, the brain abscess could be an initial clinical manifestation in asymptomatic PAVM as in the case presented in this report. PAVM may contribute to the development of a brain abscess by allowing easy bacterial access to systemic circulation through the right-to-left pul...

Congenital asymmetric crying face: a case report

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Semra Kara

2011-12-01

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

Congenital Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor: A Case Report and Review of the Literature.

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Jin, Shu-Guang; Jiang, Xiao-Ping; Zhong, Lin

2016-10-01

Ewing's sarcoma (EWS) and peripheral primitive neuroectodermal tumor (pPNET) are small round cell malignancies that develop in soft tissue and bone. They very rarely affect newborns. A diagnosis of EWS/pPNET depends mainly on immunohistochemistry and molecular/genetic assays. Since these tumors are highly aggressive, patient prognosis is typically very poor, and treatment remains a challenge. Here, we report a 13-day-old newborn diagnosed with congenital EWS/pPNET and describe its treatment. Copyright © 2014. Published by Elsevier B.V.

The Frequency of Giving Birth to Babies with Congenital Malformation and Affecting Factors

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Binali Catak

2014-12-01

Full Text Available AIM : It has been aimed with this study to identify the level of delivering baby with congenital malformations and affecting factors at women who had given birth at least once in Burdur. METHODS: According to provincial health directorate, the number of women who was pregnant on 30 June 2010 is 1,532, and 958 of these women have experienced at least one pregnancy previously. The universe of this conducted cross-sectional type research has been comprised of 958 women who had experienced pregnancy once at least. A sample was not selected in the study; it was aimed to reach the whole of universe. The data have been gathered, after getting necessary permissions, between the dates of 15 March and ndash; 21 June 2010 with a questionnaire and face to face. The data were analyzed in SPSS 10,5 package program. RESULTS: Congenital malformation prevalence in Burdur is 4,2%. Delivering babies with congenital malformation is 2,5 times (OR:1,1 and ndash;5,4 more in mothers 35 years of age or older with reference to 34 years of age and younger mothers. Delivering babies with congenital malformation is 2,9 times greater (OR:1,4 and ndash;5,7 in fathers whose education level are primary and under with reference to fathers whose education level are secondary and higher; 8 times greater (OR:2,2 and ndash;21,3 in mothers who had stillbirths with reference to mothers who had not stillbirths; 3,4 times greater (OR:1,0 and ndash;11,5 in mothers whose children died before the age of 5 with reference to mothers whose children not died before the age of 5. CONCLUSiON: In conclusion, congenital malformation prevalence is similar with the data of Turkey. For prevention of congenital malformations prenatal care as sufficient number and quality should be provided to the mothers who were over 35 years and above, child death below 5 years or had stillbirths and had educatiol level as primary education or less. [TAF Prev Med Bull 2014; 13(6.000: 445-450

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

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Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

2014-03-28

Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

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Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

2014-05-01

Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.

Congenital muscle dystrophy and diet consistency affect mouse skull shape differently.

Science.gov (United States)

Spassov, Alexander; Toro-Ibacache, Viviana; Krautwald, Mirjam; Brinkmeier, Heinrich; Kupczik, Kornelius

2017-11-01

The bones of the mammalian skull respond plastically to changes in masticatory function. However, the extent to which muscle function affects the growth and development of the skull, whose regions have different maturity patterns, remains unclear. Using muscle dissection and 3D landmark-based geometric morphometrics we investigated the effect of changes in muscle function established either before or after weaning, on skull shape and muscle mass in adult mice. We compared temporalis and masseter mass and skull shape in mice with a congenital muscle dystrophy (mdx) and wild type (wt) mice fed on either a hard or a soft diet. We found that dystrophy and diet have distinct effects on the morphology of the skull and the masticatory muscles. Mdx mice show a flattened neurocranium with a more dorsally displaced foramen magnum and an anteriorly placed mandibular condyle compared with wt mice. Compared with hard diet mice, soft diet mice had lower masseter mass and a face with more gracile features as well as labially inclined incisors, suggesting reduced bite strength. Thus, while the early-maturing neurocranium and the posterior portion of the mandible are affected by the congenital dystrophy, the late-maturing face including the anterior part of the mandible responds to dietary differences irrespective of the mdx mutation. Our study confirms a hierarchical, tripartite organisation of the skull (comprising neurocranium, face and mandible) with a modular division based on development and function. Moreover, we provide further experimental evidence that masticatory loading is one of the main environmental stimuli that generate craniofacial variation. © 2017 Anatomical Society.

Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.

LENUS (Irish Health Repository)

Rizkalla, Hala

2012-02-01

Congenital fibrosarcoma is a rare, soft tissue malignancy of infancy, most commonly involving the distal extremities. We report a case of congenital fibrosarcoma of the ileum in a 5-day-old boy who presented with an acute abdomen due to ileal perforation. Partial ileal resection was carried out with successful anastomosis. Grossly, the resected small bowel showed focal luminal stenosis with a thickened, indurated wall. Histology showed a transmural primitive spindle cell proliferation with a morphology consistent with congenital fibrosarcoma. The associated hallmark chromosomal translocation t(12;15)(q13;q25) was demonstrated by reverse transcriptase polymerase chain reaction.

Lamb congenital lymphatic malformation - a case report

Directory of Open Access Journals (Sweden)

Neria Santos

2014-01-01

Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

Congenital distal humeral dysplasia: a case report

International Nuclear Information System (INIS)

Joseph, Benjamin; Varghese, Renjit A.

2003-01-01

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

Congenital abnormalities (a bibliography with abstracts). Report for 1964-Nov 77

International Nuclear Information System (INIS)

Harrison, E.A.

1977-11-01

Radiation hazards, food additives, gene mutations, musculoskeletal diseases, neoplasms, leukemia, rubella and chromosomes as related to congenital abnormalities are topics covered by the citations of research reports in the bibliography

Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

Energy Technology Data Exchange (ETDEWEB)

Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum [Hanyang University College of Medicine, Seoul Hospital, Seoul (Korea, Republic of); Ryu, Jeong Ah [Dept. of Radiology, Hanyang University College of Medicine, Guri Hospital, Guri (Korea, Republic of); Bae, Ji Yoon [Dept. of Pathology, National Police Hospital, Seoul (Korea, Republic of)

2013-10-15

Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

International Nuclear Information System (INIS)

Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum; Ryu, Jeong Ah; Bae, Ji Yoon

2013-01-01

Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

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.

[Neumann's tumor or congenital epulis of the newborn].

Science.gov (United States)

Cantaloube, D; Rives, J M; Larroque, G; Charrier, J L; Seurat, P

1988-01-01

Congenital epulis is a rare benign gingival tumor affecting mainly female neonates. Histology shows characteristic granular cells. Although diagnosis and therapy fail to raise particular problems, this is not the case for histopathogenesis of lesion. Two cases observed recently in West Africa are reported.

Congenital Diaphragmatic Hernia and Occupational Therapy: A Case Report

Science.gov (United States)

Bates, Angela C.

2011-01-01

This case report describes occupational therapy (OT) intervention in an outpatient setting and outcomes for a child diagnosed with congenital diaphragmatic hernia (CDH) from 4 to 28 months of age. There is little information on therapy intervention and outcomes of children who have survived. The patient is a white male, born at 35 weeks gestation…

Congenital Temporomandibular Joint Ankylosis: Case Report and Literature Review

Directory of Open Access Journals (Sweden)

Ryan Chin Taw Cheong

2016-01-01

Full Text Available Congenital temporomandibular joint (TMJ ankylosis is an uncommon condition that presents itself at or soon after birth in the absence of acquired factors that could have contributed to the ankylosis such as infection and trauma. The experience of managing one such case is reported in light of a review of the literature on this condition. Key management principles include adequate removal of the ankylotic mass, costochondral grafting, and post-op physiotherapy. Most patients reported in the literature with the condition experienced relapse. This echoes our own experience where there was recurrence of the ankylosis. However, after removal of the ankylotic mass, the patient maintains a satisfactory maximal incisal opening (MIO till the present day. The additional challenges faced in the congenital form in addition to the already complex management of acquired paediatric temporomandibular joint ankylosis are (1 much earlier insult to the TMJ, (2 reduced opportunity for neuromuscular development of the muscles of mastication, and (3 reduced compliance with postoperative physiotherapy programmes due to the younger age of these patients.

Congenital Scaphoid Megalourethra: A Case Report

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Kenji Obara

2017-09-01

Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

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

Science.gov (United States)

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

2013-08-01

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

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 ...

Self-efficacy as a predictor of patient-reported outcomes in adults with congenital heart disease.

Science.gov (United States)

Thomet, Corina; Moons, Philip; Schwerzmann, Markus; Apers, Silke; Luyckx, Koen; Oechslin, Erwin N; Kovacs, Adrienne H

2018-04-01

Self-efficacy is a known predictor of patient-reported outcomes in individuals with acquired diseases. With an overall objective of better understanding patient-reported outcomes in adults with congenital heart disease, this study aimed to: (i) assess self-efficacy in adults with congenital heart disease, (ii) explore potential demographic and medical correlates of self-efficacy and (iii) determine whether self-efficacy explains additional variance in patient-reported outcomes above and beyond known predictors. As part of a large cross-sectional international multi-site study (APPROACH-IS), we enrolled 454 adults (median age 32 years, range: 18-81) with congenital heart disease in two tertiary care centres in Canada and Switzerland. Self-efficacy was measured using the General Self-Efficacy (GSE) scale, which produces a total score ranging from 10 to 40. Variance in the following patient-reported outcomes was assessed: perceived health status, psychological functioning, health behaviours and quality of life. Hierarchical multivariable linear regression analysis was performed. Patients' mean GSE score was 30.1 ± 3.3 (range: 10-40). Lower GSE was associated with female sex ( p = 0.025), not having a job ( p = 0.001) and poorer functional class ( p = 0.048). GSE positively predicted health status and quality of life, and negatively predicted symptoms of anxiety and depression, with an additional explained variance up to 13.6%. No associations between self-efficacy and health behaviours were found. GSE adds considerably to our understanding of patient-reported outcomes in adults with congenital heart disease. Given that self-efficacy is a modifiable psychosocial factor, it may be an important focus for interventions targeting congenital heart disease patients' well-being.

Applying the Intervention Model for Fostering Affective Involvement with Persons Who Are Congenitally Deafblind: An Effect Study

NARCIS (Netherlands)

Martens, M.A.W.; Janssen, M.J.; Ruijssenaars, A.J.J.M.; Huisman, J.M.E.; Riksen-Walraven, J.M.A.

2014-01-01

Introduction: In this study, we applied the Intervention Model for Affective Involvement (IMAI) to four participants who are congenitally deafblind and their 16 communication partners in 3 different settings (school, a daytime activities center, and a group home). We examined whether the

A Congenital Glaucoma Associated with Phakomatosis Pigmentovascularis in Infant Case Report

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Sakaorat Petchyim

2017-07-01

Full Text Available Phakomatosis Pigmentovascularis (PPV is the rare condition which has been classified in the same spectrum with Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome and oculodermal melanocytosis.1 PPV is the combination of widespread vascular lesions and extensive pigmentary lesions. We report a 2-monthold- infant with PPV type IIa associated with congenital glaucoma. She showed extensive Port-wine stain, extensive Mongolian spots and Café au lait spots along with soft tissue hypertrophy on her right face. She had buphthalmos on her right eye and the very high intraocular pressure, so she was diagnosed as congenital glaucoma.

Congenital mucous retention cyst of the anterior hard palate! The first case report.

Science.gov (United States)

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-10-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or 'Neuman's Tumour' as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature.

Galactose uncovers face recognition and mental images in congenital prosopagnosia: the first case report.

Science.gov (United States)

Esins, Janina; Schultz, Johannes; Bülthoff, Isabelle; Kennerknecht, Ingo

2014-09-01

A woman in her early 40s with congenital prosopagnosia and attention deficit hyperactivity disorder observed for the first time sudden and extensive improvement of her face recognition abilities, mental imagery, and sense of navigation after galactose intake. This effect of galactose on prosopagnosia has never been reported before. Even if this effect is restricted to a subform of congenital prosopagnosia, galactose might improve the condition of other prosopagnosics. Congenital prosopagnosia, the inability to recognize other people by their face, has extensive negative impact on everyday life. It has a high prevalence of about 2.5%. Monosaccharides are known to have a positive impact on cognitive performance. Here, we report the case of a prosopagnosic woman for whom the daily intake of 5 g of galactose resulted in a remarkable improvement of her lifelong face blindness, along with improved sense of orientation and more vivid mental imagery. All these improvements vanished after discontinuing galactose intake. The self-reported effects of galactose were wide-ranging and remarkably strong but could not be reproduced for 16 other prosopagnosics tested. Indications about heterogeneity within prosopagnosia have been reported; this could explain the difficulty to find similar effects in other prosopagnosics. Detailed analyses of the effects of galactose in prosopagnosia might give more insight into the effects of galactose on human cognition in general. Galactose is cheap and easy to obtain, therefore, a systematic test of its positive effects on other cases of congenital prosopagnosia may be warranted.

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

Directory of Open Access Journals (Sweden)

David Neubauer

2001-07-01

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

Microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia - A report of 3 cases

NARCIS (Netherlands)

van Winkelhoff, AJ; Schouten-van Meeteren, AYN; Baart, JA; Vandenbroucke-Grauls, CMJE

Background, aims: Congenital neutropenia is one condition that may predispose for destructive periodontal disease at a young age. In this report, we describe the microbiology of 3 adolescent patients with congenital neutropenia two of whom suffered from severe periodontitis. Method: Microbiological

Congenital generalized lipodystrophia: a case report

International Nuclear Information System (INIS)

Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

Congenital hypertrophy of multiple intrinsic muscles of the foot.

Science.gov (United States)

Shiraishi, Tomohiro; Park, Susam; Niu, Atushi; Hasegawa, Hiromi

2014-12-01

Congenital hypertrophy of a single intrinsic muscle of the foot is rare, and as far as we know, only six cases have been reported. We describe a case of congenital anomaly that showed hypertrophy of multiple intrinsic muscles of the foot; the affected muscles were all the intrinsic muscles of the foot except the extensor digitorum brevis or extensor hallucis. Other tissues such as adipose tissue, nervous tissue, or osseous tissue showed no abnormalities. To reduce the volume of the foot we removed parts of the enlarged muscles.

Congenital epulis: a report of two cases and review of the literature ...

African Journals Online (AJOL)

Background: Congenital epulis of the newborn is a rare benign soft-tissue tumour of the gingival, which is also called gingival granular cell tumour of the newborn. These slow growing soft tissue tumors affect the gingivae of a new born child. It is essential to document the presentation and the management of this lesion ...

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 ...

Fetal lung interstitial tumor: the first Japanese case report and a comparison with fetal lung tissue and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3.

Science.gov (United States)

Yoshida, Mariko; Tanaka, Mio; Gomi, Kiyoshi; Iwanaka, Tadashi; Dehner, Louis P; Tanaka, Yukichi

2013-10-01

Fetal lung interstitial tumor, a newly recognized lung lesion in infants, was first reported in 2010. Here, we report the first Japanese case of fetal lung interstitial tumor which was originally diagnosed as atypical congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. A 7-day-old girl was referred to our hospital with respiratory distress and a left lung mass and she subsequently underwent left lower lobectomy. The specimen showed a 5 cm solid mass with a fibrous capsule. Histological examination revealed immature airspaces and interstitium, containing bronchioles and cartilage. The epithelial and interstitial cells contained abundant glycogen granules. Immunohistochemistry showed nuclear/cytoplasmic expression of β-catenin in the epithelial and interstitial cells. β-catenin gene mutations and trisomy 8 were not detected, so a neoplastic origin could not be confirmed. The histological findings were partly consistent with normal fetal lung at the canalicular stage, pulmonary interstitial glycogenosis, and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. In this report, we compare the above conditions and discuss the pathogenesis of fetal lung interstitial tumor. © 2013 The Authors. Pathology International © 2013 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

Congenital Intrahepatic Portosystemic Shunts

Energy Technology Data Exchange (ETDEWEB)

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

2008-12-15

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

Radiological findings of congenital lipoid adrenal hyperplasia: a case report

International Nuclear Information System (INIS)

Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji

2001-01-01

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH

Congenital orbital teratoma

OpenAIRE

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

2013-01-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

CASE REPORT OF SEVERE PROLIFERATIVE RETINOPATHY IN A PATIENT WITH CONGENITAL LIPODYSTROPHY.

Science.gov (United States)

Rosin, Boris; Jaouni, Tareq

2017-08-21

A case report of a patient with severe proliferative retinopathy due to congenital lipodystrophy. We reviewed the medical history, imaging, and surgical procedures of a 25-year-old woman with a history of congenital lipodystrophy, presenting with bilateral combined tractional and exudative retinal detachment, poorly controlled diabetes mellitus, and extreme dislipidemia. The patient underwent retinal detachment repair surgery both eyes. On the last follow-up, both retinae were flat, and visual acuity had improved in the right eye to J3 for near and finger counting 3 m for distance. Surgery combining pars plana vitrectomy and scleral bucking successfully flattened both retinae and significantly improved visual acuity in one eye in this case of bilateral retinal detachment with combined tractional and exudative components in a patient with congenital lipodystrophy. Surgical control of retinal complications is thus possible, provided there is adequate control of the underlying risk factors.

Congenitally transmitted visceral leishmaniasis: report of two brazilian human cases

Directory of Open Access Journals (Sweden)

Myrlena Regina Machado Mescouto-Borges

2013-04-01

Full Text Available Visceral leishmaniasis is a relevant public health problem worldwide. Most of the reported cases in Latin America are from Brazil. Herein we report two human cases of congenitally transmitted visceral leishmaniasis in two patients who developed symptoms during pregnancy. The diagnosis was made by visual examination of Leishmania parasites in bone marrow aspirates of the mothers and by detecting parasite kDNA in bone marrow samples of the newborn children using polymerase chain reaction.

Congenital Unilateral Deafness Affects Cerebral Organization of Reading

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Alice Mado Proverbio

2013-06-01

Full Text Available It is known that early sensory deprivation modifies brain functional structure and connectivity. The aim of the present study was to investigate the neuro-functional organization of reading in a patient with profound congenital unilateral deafness. Using event-related potentials (ERPs, we compared cortical networks supporting the processing of written words in patient RA (completely deaf in the right ear since birth and in a group of control volunteers. We found that congenital unilateral hearing deprivation modifies neural mechanisms of word reading. Indeed, while written word processing was left-lateralized in controls, we found a strong right lateralization of the fusiform and inferior occipital gyri activation in RA. This finding goes in the same direction of recent proposals that the ventral occipito-temporal activity in word reading seem to lateralize to the same hemisphere as the one involved in spoken language processing.

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

Science.gov (United States)

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

2014-02-01

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

Congenital intestinal lymphangiectasia. A case report

Directory of Open Access Journals (Sweden)

Georgios Mitsiakos

2017-12-01

Full Text Available Congenital intestinal lymphangiectasia, first described by Waldmann et al. in 1961, is a rare congenital malformation of the lymphatics, presented with generalized edema, hypoproteinemia and lymphopenia. Diagnosis is based on endoscopy findings and pathology.We present here a case of a male neonate, second child of an indigenous woman, delivered by caesarean section. Prenatally, multiple cystic abdominal masses were identified by ultrasound. The patient was treated successfully with enterectomy and anastomosis. Histopathology revealed primary intestinal lymphangiectasia with no features of malignancy.Intestinal lymphangiectasia is a rare pathology, which should be differentiated while exploring abdominal masses, hypoproteinemia and edema especially in neonates.

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

Science.gov (United States)

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

2012-02-01

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

Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

Science.gov (United States)

Fayol, Laurence; Garcia, Patricia; Denis, Danièle; Philip, Nicole; Simeoni, Umberto

2006-04-01

A female infant presented with Adams-Oliver syndrome (AOS), intrauterine growth retardation, severe cutis marmorata telangiectatica congenita, bilateral congenital cataract, and periventricular lesions. The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes. This observation further supports the current understanding of the physiopathology of AOS.

[Congenital nephrogenic diabetes insipidus: about a case report].

Science.gov (United States)

Esselmani, Hicham; Yassine, Asmaa; Bouabdellah, Mounya; Benchekroun, Laila; Handor, Najat; Elalami, Sanae; Chabraoui, Layachi

2013-01-01

Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.

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: ...

Congenital imprinting disorders

DEFF Research Database (Denmark)

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

2015-01-01

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

Multiple caeco-appendiceal fistulas and diverticulosis: a newly defined congenital anomaly of the appendix-report of the first case.

Science.gov (United States)

Yucel, Ahmet Fikret; Pergel, Ahmet; Kocakusak, Ahmet; Aydin, Ibrahim; Bagci, Pelin; Sahin, Dursun Ali

2011-11-01

Congenital anomalies of the appendix are extremely rare. They are usually found incidentally during operations other than appendectomies. Congenital appendix diverticula are even less frequent. Congenital caeco-appendiceal fistulae have not been reported until today. Herein, we present real diverticula of the appendix with multiple caeco-appendiceal fistulae which, to our knowledge, is the first in the literature.

Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

Science.gov (United States)

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

1983-06-01

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

Abnormal expression of ephrin-A5 affects brain development of congenital hypothyroidism rats.

Science.gov (United States)

Suo, Guihai; Shen, Feifei; Sun, Baolan; Song, Honghua; Xu, Meiyu; Wu, Youjia

2018-05-14

EphA5 and its ligand ephrin-A5 interaction can trigger synaptogenesis during early hippocampus development. We have previously reported that abnormal EphA5 expression can result in synaptogenesis disorder in congenital hypothyroidism (CH) rats. To better understand its precise molecular mechanism, we further analyzed the characteristics of ephrin-A5 expression in the hippocampus of CH rats. Our study revealed that ephrin-A5 expression was downregulated by thyroid hormone deficiency in the developing hippocampus and hippocampal neurons in rats. Thyroxine treatment for hypothyroid hippocampus and triiodothyronine treatment for hypothyroid hippocampal neurons significantly improved ephrin-A5 expression but could not restore its expression to control levels. Hypothyroid hippocampal neurons in-vitro showed synaptogenesis disorder characterized by a reduction in the number and length of neurites. Furthermore, the synaptogenesis-associated molecular expressions of NMDAR-1 (NR1), PSD95 and CaMKII were all downregulated correspondingly. These results suggest that ephrin-A5 expression may be decreased in CH, and abnormal activation of ephrin-A5/EphA5 signaling affects synaptogenesis during brain development. Such findings provide an important basis for exploring the pathogenesis of CH genetically.

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

NARCIS (Netherlands)

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

2003-01-01

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

Orthodontic Management of Congenitally Missing Maxillary Lateral Incisors: A Case Report

OpenAIRE

Paduano, Sergio; Cioffi, Iacopo; Rongo, Roberto; Cupo, Antonello; Bucci, Rosaria; Valletta, Rosa

2014-01-01

This case report describes the orthodontic treatment of a woman, aged 15 years, with permanent dentition, brachyfacial typology, with congenitally missing maxillary lateral incisors. Multibracket straightwire fixed appliance was used to open the space for dental implant placement, and treat the impaired occlusion. The missing lateral incisors were substituted with oral implants.

Novel NPHS1 gene mutations in a Chinese family with congenital ...

Indian Academy of Sciences (India)

RESEARCH NOTE ... Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, ... was inherited from father, and was likely to affect the protein ... reported outside Finland with a lower frequency of NPHS1 ..... cohort of children with congenital nephrotic syndrome.

Congenital intermittent atrio-ventricular dissociation in tetralogy of Fallot (a case report.

Directory of Open Access Journals (Sweden)

Karande S

1991-01-01

Full Text Available A case of tetralogy of fallot with congenital intermittent atrioventricular dissociation is reported. A review of standard postgraduate books of cardiology fails to describe this condition, thus showing its extreme rarity. The therapeutic dilemma in treating such a case is also discussed.

Orthodontic Management of Congenitally Missing Maxillary Lateral Incisors: A Case Report

Directory of Open Access Journals (Sweden)

Sergio Paduano

2014-01-01

Full Text Available This case report describes the orthodontic treatment of a woman, aged 15 years, with permanent dentition, brachyfacial typology, with congenitally missing maxillary lateral incisors. Multibracket straightwire fixed appliance was used to open the space for dental implant placement, and treat the impaired occlusion. The missing lateral incisors were substituted with oral implants.

Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

Science.gov (United States)

Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

2001-01-01

The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

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

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

Congenital complete atrioventricular block. Report of one case and literature review

International Nuclear Information System (INIS)

Diaz D, Alejandro; Serrano G, Ana; Guzman B, Monica; Ruz M, Miguel

2008-01-01

Complete congenital atrioventricular block is a rare entity that has a high morbidity and mortality. Its real incidence remains unknown and a high suspicion index is needed for its diagnosis and consequently for its early intervention. It is observed in children of mothers having connective tissue autoimmune diseases, in particular systemic lupus erythematosus, when the condition is congenital. If it is post-natal, congenital cardiopathies are responsible in most cases. It may al so appear in. structurally normal hearts. The characteristic clinical finding is persistent bradycardia manifested since intrauterine life and affecting the circulatory fetal stability, going as far as to produce hydrops fetalis, a serious and lethal condition. After birth, it appears with bradycardia as well, that may or not unbalance the patient hemodynamics. Diagnosis is made upon clinical suspicion with fetal echocardiography and when post-natal, through electrocardiogram and maternal antibody type antiRo and antiLa. Pacemaker implantation is the definitive treatment that contributes to improve patient survival and prognosis. We present the case of a premature female patient with 31 weeks of gestation due to non-immune hydrops in who complete atrioventricuiar block secondary to maternal lupus erythematosus confirmed by frankly positive anti-nuclear antibodies and positive antiRo and antiLa antibodies was diagnosed, and that received inotropic support after pace maker implantation. She improved completely from her heart failure and was sent to other institution for conventional management of premature

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

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

2007-01-01

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

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

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

2007-06-15

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

Neonatal gastrointestinal involvement and congenital cytomegalovirus

Directory of Open Access Journals (Sweden)

Alessandro Porta

2016-11-01

Full Text Available Cytomegalovirus (CMV is the most common cause of congenital viral infection, affecting 0.2 to 2.3% of all live births in developed countries. Very low birth weight and extremely low birth weight newborns are at higher risk of symptomatic CMV infection, most commonly secondary and acquired through breast milk. Gastrointestinal involvement is rare in acquired CMV infections, but it could be an important manifestation of postnatal infection in preterm infants admitted to neonatal intensive care units. Early onset of CMV gastrointestinal signs/symptoms is very rare. In a review of the literature it is described in 5 newborns in the first 24 hours of life, and 6 considering the onset in the first week of life. This review describes also a case report of congenital CMV in an immunocompetent newborn with onset of gastrointestinal signs immediately after birth: a possible association between viral infection and enteric manifestations was considered in the differential diagnosis. A review of the literature of the different case reports found has done, with description and comparison of the different patients and clinical presentations.

Bilateral congenital deficiency of tibia: a case report.

Science.gov (United States)

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

2014-01-01

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

Encephalocele development from a congenital meningocele: case report.

Science.gov (United States)

Gandhoke, Gurpreet S; Goldschmidt, Ezequiel; Kellogg, Robert; Greene, Stephanie

2017-11-01

A fetal MRI study obtained at 21 weeks' gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement of the encephalocele, still without obvious hydrocephalus. The patient underwent an operation in which an external ventricular drain was placed, the grossly normal cerebellum was reduced into the posterior fossa without resection, and the dural defect was closed. The drain was weaned out over 5 days, and no ventriculoperitoneal shunt was placed. Postoperative MR images revealed normal cerebellum and no hydrocephalus. The patient is developmentally normal. Meningocele and encephalocele are embryologically distinct. An acquired encephalocele could develop from hydrocephalus (which was not present in this case), or secondary to the lower resistance to expansion into the dural defect of the meningocele relative to the resistance to expansion of the fetal skull. The cerebellar tissue was normal in this case, and was thus preserved. The developmental prognosis is excellent. To the authors' knowledge, this is the first reported case of this occurrence. It is important to differentiate between congenital and acquired encephalocele etiologies, because resection of the cerebellar tissue in an acquired encephalocele (as is routinely done in cases of congenital encephalocele) would be expected to result in neurological deficits.

Congenital double-level cervical spondylolysis: a case report and review of the literature.

Science.gov (United States)

Yamamoto, Norio; Miki, Takaaki; Nasu, Yoshihisa; Nishiyama, Akihiro; Dan'ura, Tomoyuki; Matsui, Yuzuru; Ozaki, Toshifumi

2017-05-01

We report a rare Japanese female who was affected with three genetic-linked diseases: double-level cervical bilateral spondylolysis in association with spina bifida occulta, cleft lip and monostotic fibrous dysplasia of the right proximal femur. The case was considered to be congenital in origin. We also review the pertinent literature of cervical spondylolysis, with a focus on the pathogenesis of multiple-level cervical spondylolysis. A 40-year-old female presented with progressive clumsiness and numbness of the hands. Japanese Orthopedic Association (JOA) score for the cervical spine was 14.5. Plain radiographs of the cervical spine showed bilateral spondylolysis of the articular mass portion, with an adjacent dysplastic change and spina bifida occulta of C4 and C5. Cervical laminoplasty from C4 to C6 was performed. The postoperative course was uneventful, and the patient had some recovery of muscle power and sensation, with JOA score improving to 15.5. At the 8-year follow-up, the patient had no recurrence of symptoms, but did show kyphotic and degenerative changes at the C4/5 and C5/6 level with no apparent instability. This case is a rare presentation of bilateral cervical spondylolysis involving C4 and C5, presumably congenital, accompanied by combined dysplastic changes of the cervical spine, cleft lip, and fibrous dysplasia, possibly through an error involving an ossification center during the embryonic stage.

Congenital yellow nail syndrome: a case report and its relationship to nonimmune fetal hydrops.

Science.gov (United States)

Nanda, Arti; Al-Essa, Fahad H; El-Shafei, Wael M; Alsaleh, Qasem A

2010-01-01

Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and bilateral conjunctival pigmentation born to consanguineous parents. One of his older siblings had died of nonimmune fetal hydrops (NIFH). The case supports the genetic basis of yellow nail syndrome with a possible relationship to nonimmune fetal hydrops. © 2010 Wiley Periodicals, Inc.

Congenital adrenal hyperplasia: as viewed by parents of affected children in India--a pilot study.

Science.gov (United States)

Bhakhri, Bhanu Kiran; Jain, Vandana

2011-01-01

A spectrum of myths and misconceptions about congenital adrenal hyperplasia (CAH) is prevalent among the parents of affected children in India. The perceptions of parents may affect several aspects of these children's management, and to explore these perceptions we carried out a cross-sectional questionnaire-based descriptive study during May 2010. Twenty-eight individuals (17 males and 11 females), parents of 22 affected children aged parents of misconceptions about CAH. These misconceptions were resulting in potentially harmful practices, and in addition there was immense societal pressure on the families as a result of ignorance and myths about the disorder. There is a need for regular CAH education and interaction programs to provide an acceptable platform for the parents and patients, where their concerns can be expressed and shared and their requirements addressed appropriately by a multidisciplinary team.

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Science.gov (United States)

Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

2013-12-01

Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

Science.gov (United States)

Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

2016-01-01

We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

Long QT in children with congenital deafness: a brief report

Directory of Open Access Journals (Sweden)

Naseraldin Akbari Asbagh

2013-08-01

Full Text Available Background: Long QT syndromes (LQT are genetic abnormalities of ventricular repo-larization, with an estimated incidence of about one per 10000 births. It is characterized by prolongation of the QT interval in electrocardiogram (EKG and associated with a high risk for syncope and sudden death in patients. Type of this syndrome is association with congenital deafness. Our objective was to evaluate QT interval in children with congenital deafness.Methods: For 219 patients referred to Imam Khomeini Hospital audiometric clinic in 2011, questionnaire were completed. A total of 23 congenitally deaf children were incl-uded. All patients’ examinations were done by a pediatric cardiologist. Electrocardio-gram is conducted in all children (23 patients with sever and deep congenital deafness. Then the QT interval was measured based on Bazett’s formula. Echocardiography was also performed in these children to assess left ventricular function and the presence of mitral valve prolapse.Results: The overall patients were two hundred and nineteen children. A total of twenty three congenitally deaf children were included and electrocardiogram was obtained. Three children had obviously prolonged QTc (0.48±0.02 second. The median age of them was 6.1±5 year, the median weight was 18±11.3 kilogram and the median of QT interval was 0.48±0.02 second.Conclusion: The QT interval obtained 0.48±0.02 second. In the present study we found prolonged QT in congenital deafness, thus we recommend to evaluate the electrocardio-gram of children with congenital deafness.

Congenital insensitivity to pain: Case report of a rare entity

Directory of Open Access Journals (Sweden)

Swati Dahiya

2018-01-01

Full Text Available Hereditary sensory and autonomic neuropathies (HSANs are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves. Five types of HSAN have been reported in literature, out of which Type V known as congenital insensitivity to pain (CIP is a rare autosomal recessive condition. Self-mutilation is an invariable feature of this disorder, involving the teeth and orofacial structures. This case report describes a case of a 6-year-old girl with CIP brought by her parents for prostheses to replace her self-extracted primary teeth.

Mal de meleda with congenital cataract: A novel case report

Directory of Open Access Journals (Sweden)

Anisha Sethi

2015-01-01

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

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing

Science.gov (United States)

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-01-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. PMID:26803166

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing.

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Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-04-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. © The Author 2016. Published by Oxford University Press.

Avascular Necrosis in the Contralateral Hip in Patients With Congenital Femoral Deficiency: A Report of 3 Cases.

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Brown, Timothy S; Wimberly, Robert L; Birch, John G

2017-01-01

Congenital femoral deficiency is an uncommon clinical entity. We report 3 patients who developed avascular necrosis of the hip in the long (normal) leg during longitudinal observation and/or treatment of congenital femoral deficiency. Patients were identified in limb length discrepancy clinic and their charts were retrospectively reviewed for clinical and radiographic data collection. We describe the occurrence of idiopathic avascular necrosis in the normal limb in patients being followed for limb length discrepancy. Although no conclusion could be drawn about the etiology of the avascular necrosis, we describe a previously undocumented relationship between congenital femoral deficiency and avascular necrosis in the contralateral hip. This occurred in our congenital femoral deficiency population at a rate higher than expected compared with published incidences of avascular necrosis of the hip in children. Level IV-case series.

CCT and sonographic findings in congenital craniopharyngioma

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

1984-11-01

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

Multifocal Congenital Hemangiopericytoma.

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

2017-01-01

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

Early detection of congenital syphilis

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Nagalakshmi Chowdhary

2014-01-01

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

CCT and sonographic findings in congenital craniopharyngioma

International Nuclear Information System (INIS)

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

1984-01-01

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

Congenital orbital teratoma.

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

2013-12-01

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

Congenital orbital teratoma

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Shereen Aiyub

2013-01-01

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

Congenital cervical bronchogenic cyst: A case report

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Kiralj Aleksandar

2015-01-01

Full Text Available Introduction. Bronchogenic cysts are rare congenital anomalies of the embryonic foregut. They are caused by abnormal budding of diverticulum of the embryonic foregut between the 26th and 40th day of gestation. Bronchogenic cysts can appear in the mediastinum and pulmonary parenchyma, or at ectopic sites (neck, subcutaneous tissue or abdomen. So far, 70 cases of cervical localization of bronchogenic cysts have been reported. Majority of bronchogenic cysts have been diagnosed in the pediatric population. Bronchogenic cysts of the cervical area are generally asymptomatic and symptoms may occur if cysts become large or in case of infection of the cyst. The diagnosis is made based on clinical findings, radiological examination, but histopathologic findings are essential for establishing the final diagnosis. Treatment of cervical bronchogenic cyst involves surgical excision. Case Outline. Authors present a case of a 6-year-old female patient sent by a pediatrician to a maxillofacial surgeon due to asymptomatic lump on the left side of the neck. The patient had frequent respiratory infections and respiratory obstructions. Magnetic resonance imaging (MRI of the neck was performed and a well-circumscribed cystic formation on the left side of the neck was observed, with paratracheal location. The complete excision of the cyst was made transcervically. Histopathological findings pointed to bronchogenic cyst. Conclusion. Cervical bronchogenic cysts are rare congenital malformations. Considering the location, clinical findings and the radiological features, these cysts resemble other cervical lesions. Surgical treatment is important because it is both therapeutic and diagnostic. Reliable diagnosis of bronchogenic cysts is based on histopathological examination.

Treatment of Class II subdivision malocclusion with congenitally missing upper lateral incisors: A case report

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Siddharth Mehta

2014-01-01

Full Text Available Orthodontic treatment for patients with unilateral or bilateral congenitally missing lateral incisor poses a challenge mainly with regard to treatment planning. The use of a diagnostic setup is one of the most important aids in the decision-making process. Two alternatives, orthodontic space closure or space opening for prosthetic replacement exist. The present case report shows use of the microimplant for unilateral upper molar distalization and space closure in a Class-II division 1 subdivision malocclusion case with bilateral congenitally missing upper lateral incisors.

Congenital syphilis: literature review

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Eduardo Chaida Sonda

2013-01-01

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

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

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Vries, Jutte Jacoba Catharina de

2012-01-01

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

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

NARCIS (Netherlands)

Vries, Jutte Jacoba Catharina de

2012-01-01

Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature

Management of female congenital short patulous urethra with urethral tapering and pubovaginal sling: A report of two cases.

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Gahlawat, Sumit; Goel, Hemant; Khattar, Nikhil

2018-01-01

Congenital short patulous urethra is a rare entity and may be associated with developmental anomalies of mullerian ducts or urogenital sinus. We report the management of two cases of congenital short patulous urethra with stress urinary incontinence (SUI). Both the patients presented with SUI; one was diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and the other had uterus didelphys with longitudinally septated vagina. Both patients were successfully managed by excisional tapering of the urethra and pubovaginal sling placement. SUI with congenital short patulous urethra can be managed with excisional tapering of urethra and pubovaginal sling placement.

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

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Scola Rosana Herminia

2001-01-01

Full Text Available We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA. The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature

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Dina Sameh Soliman

2018-03-01

Full Text Available Methemoglobinemia is a rare overlooked differential diagnosis in patients presented with cyanosis and dyspnea unrelated to cardiopulmonary causes. Our patient is 29 year old Indian non-smoker male, his story started 6 months prior to presentation to our center when he had generalized fatigue and discoloration of hands. He presented with persistent polycythemia with elevated hemoglobin level. The patient was misdiagnosed in another center as polycythemia and treated with Imatinib. The diagnosis of PV was revisited and ruled out in view of negative JAK2, normal erythropoietin level and absence of features of panmyelosis. Clinical cyanosis and lowoxygen saturation in the presence of normal arterial oxygen tension was highly suggestive of methemoglobinemia. Arterial blood gas revealed a methemoglobin level of 38% (normal: 0-1.5%. Cytochrome B5 reductase (Methemoglobin reductase B was deficient at level of <2.6 U/g Hb (normal: 6.6-13.3, consistent with methemoglobin reductase (cytochrome b5 deficiency and hence the diagnosis of congenital methemoglobinemia was established. The role of Imatinib in provoking methemoglobinemia is questionable and association between Imatinib and methemoglobinemia never described before. In our case, there were no other offending drugs in aggravating the patients’ symptoms and cyanosis. The patient started on Vitamin C 500 mg once daily for which he responded well with less cyanosis and significant reduction of methemoglobin level. Congenital methemoglobinemia is a rare underreported hemoglobin disease and often clinically missed. Upon extensive review of English literature for cases of congenital methemoglobinemia due to deficiency of cytochrome b5 reductase, we found 23 cases diagnosed as type I (including the case reported here. 17 cases (~74% of type I and 6 cases (27% of type II. There is male predominance 73% versus 26% in females. Almost half of reported cases 12 cases (52% are Indian, 2 Japanese, 3 English, 2

What's New in Congenital Scoliosis?

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Pahys, Joshua M; Guille, James T

2018-03-01

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

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

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Carounanidy Udayashankar

2012-01-01

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

Subcorneal Pustular Dermatosis In A Child With Congenital Hypothyroidism : Association Or Co - Incidental

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Kanthraj G R

1998-01-01

Full Text Available Subcorneal pustular dermatosis (SCPD is a chronic benign relapsing, pustular eruption with distinctive histology1 affecting usually the females in the age group of 40 yrs. Recently, its association with hyperthyroidism has been reported2. We describe a child with congenital hypothyroidism and SCPD.

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 ...

Prenatal and postnatal MR findings of a congenital hemangioma: a case report

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Choi, Kyung Hee; Chang, Yun Woo; Lee, Jung Jai; Lee, Woo Ryung [Soonchunhyang University Hospital, Seoul (Korea, Republic of); Kim, Young Wha [Inje University Seoul Paik Hospital, Seoul (Korea, Republic of)

2007-12-15

Hemangiomas are common benign soft tissue tumors found in pediatrics. Knowledge of prenatal image findings for hemangiomas can be essential for ensuring optimal antepartum and postpartum care. In this study, we provide a report the MR findings of a congenital hemangioma in the posterior neck region, which was different from the pre and postnatal image findings as well as a literature review.

Congenital granular cell epulis—a case report

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Alexander Aresdahl, DDS

2015-03-01

Full Text Available Congenital granular cell epulis (CGCE is an uncommon benign lesion found in newborns. It has predominance for females with an 8:1 ratio in relation to males and is exclusively encountered in the oral cavity. The most affected oral site is located around the canine/incisor region of the maxillary alveolar ridge, where the lesion arises from the soft tissue as a solitary pedunculated mass. CGCE's histogenesis remains obscure and controversial. We present a rare case of 2 separate CGCE lesions adjacent to each other measuring 23 × 18 × 10 and 15 × 10 mm, positioned facially on the right maxillary alveolar process. The patient, a 2-day-old female newborn, did not experience any serious difficulty regarding breathing or deglutition. Complete surgical excision was the treatment of choice in this case, and the procedure was performed under both general and local anesthesia. Histologic and immunohistochemical analysis confirmed the diagnosis of CGCE. The patient showed satisfactory postoperative healing and excellent health at both the 10-day recall appointment and the 6-month follow-up.

Congenital Malformations in River Buffalo (Bubalus bubalis

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Sara Albarella

2017-02-01

Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

Congenital heart defects and extracardiac malformations.

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

2013-06-01

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

Acute gastric volvulus and congenital diaphragmatic hernia, case report and review

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Laura Pérez-Egido

2015-01-01

Full Text Available Congenital diaphragmatic hernia (CDH is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory or gastrointestinal symptoms. Acute gastric volvulus associated with CDH is a rare surgical emergency in children. We report two cases of acute gastric volvulus associated with CDH and review the literature.

Assessment of adult congenital heart disease with multi-detector computed tomography - beyond coronary lumenography

International Nuclear Information System (INIS)

Nicol, E.D.; Gatzoulis, M.; Padley, S.P.G.; Rubens, M.

2007-01-01

Adult congenital heart disease is an increasingly prevalent condition with more than 135,000 patients affected in England alone. With this increased patient population and an increase in interventional procedures being performed on them, traditional imaging techniques such as cardiac magnetic resonance (CMR) may be unavailable locally or contra-indicated. Cardiac multidetector computed tomography (MDCT) is rapidly emerging as an alternative imaging method for the investigation of these patients and this review highlights the broad application of cardiac MDCT to this population and makes recommendations on the stardardized reporting of complex congenital heart disease

Assessment of adult congenital heart disease with multi-detector computed tomography - beyond coronary lumenography

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Nicol, E.D. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom) and Department of Cardiology, Royal Brompton Hospital, London (United Kingdom)]. E-mail: e.nicol@rbht.nhs.uk; Gatzoulis, M. [Adult Congenital Heart Centre and Centre for Pulmonary Hypertension, Royal Brompton Hospital and National Heart and Lung Institute, London (United Kingdom); Padley, S.P.G. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom); Rubens, M. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom)

2007-06-15

Adult congenital heart disease is an increasingly prevalent condition with more than 135,000 patients affected in England alone. With this increased patient population and an increase in interventional procedures being performed on them, traditional imaging techniques such as cardiac magnetic resonance (CMR) may be unavailable locally or contra-indicated. Cardiac multidetector computed tomography (MDCT) is rapidly emerging as an alternative imaging method for the investigation of these patients and this review highlights the broad application of cardiac MDCT to this population and makes recommendations on the stardardized reporting of complex congenital heart disease.

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

Surgical correction of congenital esotropia alternating and subsequent abnormal correspondence retinal: a case report

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Luigi Mazzeo

2015-10-01

Full Text Available Introduction: Accomodative esotropia is secondary to inappropriate convergence during accomodative effort in an uncorrected hyperope and is often familial. Case presentation: we report the case of 20 year old Caucasian patient with congenital esotropia alternating, of 30 prism diopters distance (5 m and 40 prism diopters of esotropia at near, in both eyes. Measures: Was performed strabismus, in peribulbar anesthesia, the right medial rectus was cashed 3.0mm, the left medial rectus was collected 3.5 mm. Results: Immediately after surgery, the patient complained of intermittent diplopia, resolved with orthotic exercise which stimulated binocular vision, Conclusion: This case report suggests that the surgical correction strabismus, should be considered with due caution in the treatment of congenital esotropia alternating and branches, and in some clinical scenarios selected to avoid the complication of postoperative diplopia, that in the case report resolved so benign. After three months surgical treatmen, remains a small angle strabismus aesthetically acceptable, has not given double vision and remains abnormal retinal correspondence with orthotic exercise.

Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication.

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Gesser-Edelsburg, Anat; Shahbari, Nour Abed Elhadi

2017-04-04

This study focused on decision-making on terminating pregnancy for Arab Muslim women in Israel who were pregnant with fetuses diagnosed with congenital anomalies. It examined the impact of the doctor-patient interaction on the women's decision, especially in light of social and religious pressures not to terminate under any circumstances. Our goal was to identify perceptions and attitudes of Muslim Arab women who choose to continue their pregnancy following the detection of congenital anomalies in prenatal tests. Specific objectives included (1) To examine the Muslim Arab women's perceptions on genetic testing, and ascertain the reasons for their decision to continue the pregnancy following the detection of a congenital anomaly in the fetus; and (2) To examine risk communication of gynecologists regarding genetic testing and abortions, and regarding the decision of continuing or terminating a pregnancy following detection of a congenital anomaly. The research framework used the constructivist classical qualitative method to understand the experience of women at high risk for congenital anomalies and their experience of how doctors communicate the risk. It showed that the emotional element is no less dominant than religious and social elements. The findings emphasized the disparities between doctors and women regarding emotional involvement (non-directive counselling). The women interviewees (N = 24) felt that this expressed insensitivity. As far as we know, the emotional component has not been raised in previous studies of Muslim women at high risk for congenital defects in their fetus, and therefore comprises a significant contribution of the present study. To mitigate gaps, doctors should take affect into consideration in their communication with patients. It is important for doctors to understand the emotional element in risk communication, both in how they respect women's emotions and in creating an emotional interaction between themselves and the women.

Diagnosis and Management of a Patient with Congenitally Missing Maxillary First Permanent Molars: A Rare Case Report

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Megha Gupta

2016-01-01

Full Text Available Congenitally missing teeth are the most commonly seen dental anomalies. Agenesis of the permanent first molar has the least frequency of all the tooth types, and it usually occurs in association with oligodontia or anodontia. Thus, agenesis of the bilateral maxillary first permanent molar is an extremely rare occurrence, and no such case has been reported in ethnic Saudi Arabian population. We hereby report a case of nonsyndromic bilateral congenitally missing maxillary first permanent molar in an eight-year-old Saudi female patient. Comprehensive oral rehabilitation was done for the patient. The implications of the tooth agenesis are also discussed. The prognosis of this case is presented.

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

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Diana Bancin

2015-03-01

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

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

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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.

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

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Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

2006-03-01

Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

Symptoms of Autism among Children with Congenital Deafblindness

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Dammeyer, Jesper

2014-01-01

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

Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature

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Narayanappa Harini

2012-01-01

Full Text Available Congenital cystic adenomatoid malformations (CCAM are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM.

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

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Moutet, F; Lebrun, C; Sartorius, C

1987-01-01

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

The level of physical exercise is associated with self-reported health status (EQ-5D) in adults with congenital heart disease.

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Sandberg, Camilla; Engström, Karl Gunnar; Dellborg, Mikael; Thilén, Ulf; Wadell, Karin; Johansson, Bengt

2015-02-01

The prognosis in adults with congenital aortic valve disease is usually favourable; nevertheless, a number of medical and social factors might hamper long-term prognosis and quality of life. With a focus on physical exercise level, data from the Swedish National Registry on Congenital Heart Disease (SWEDCON) were analysed and variables associated with health-related quality of life in adults with congenital aortic valve disease were identified. In this registry study, SWEDCON was searched for adult patients with isolated congenital aortic valve disease and valid EuroQol-5Dimensions health questionnaire (EQ-5D) data. This study identified 315 patients. The majority (n = 202, 64%) reported best possible health status (EQ-5D(index) = 1) whereas 113 (35%) reported some impairment (EQ-5D(index)  3 h/week was independently associated with best possible health status (EQ-5D(index) = 1; p = 0.013). Moreover presence of cardiovascular symptoms (p 3 h/week was, as a single variable, associated with best possible health status in adults with congenital aortic valve disease. In contrast, a number of medical and social factors are associated with worse self-reported health status. Among these, symptoms, smoking, and educational level are potential targets for modification and intervention. There is a need for studies investigating the effect of increased level of physical exercise in patients with congenital aortic valve disease. © The European Society of Cardiology 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

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.)

Congenital Diverticular Disease of the Entire Colon

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A. Patel

2013-01-01

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

Japanese family with congenital factor VII deficiency.

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

2015-10-01

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

Polymicrogyria and Congenital Parvovirus B19 Infection

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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.

Symptoms of Autism Among Children with Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper Herup

2014-01-01

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

Angiographic features of rapidly involuting congenital hemangioma (RICH)

Energy Technology Data Exchange (ETDEWEB)

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

2003-01-01

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

The single-tooth implant treatment of congenitally missing maxillary lateral incisors using angled abutments: A clinical report

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Suleyman Hakan Tuna

2009-01-01

Full Text Available The maxillary lateral incisor is the second most common congenitally absent tooth. There are several treatment options for replacing the missing maxillary lateral incisor, including canine substitution, tooth-supported restoration, or single-tooth implant. Dental implants are an appropriate treatment option for replacing missing maxillary lateral incisor teeth in adolescents when their dental and skeletal development is complete. This case report presents the treatment of a patient with congenitally missing maxillary lateral incisors using dental implants with angled abutments.

Congenital nystagmus and negative electroretinography

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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

Adrenomyeloneuropathy associated with congenital cataract. Report of a family with MRI study

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

1988-05-01

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.

A case report of congenital sensory neuropathy with anhidrosis

International Nuclear Information System (INIS)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong

1974-01-01

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint

A case report of congenital sensory neuropathy with anhidrosis

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Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1974-10-15

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint.

Genetics Home Reference: congenital diaphragmatic hernia

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... of cells in the embryo. Environmental factors that influence development before birth may also increase the risk of ... occur? How can gene mutations affect health and development? More about Mutations and ... is only one affected individual in a family. When congenital diaphragmatic hernia occurs as a feature ...

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 ...

Microbubbles in macrocysts - Contrast-enhanced ultrasound assisted sclerosant therapy of a congenital macrocystic lymphangioma: a case report.

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Menendez-Castro, Carlos; Zapke, Maren; Fahlbusch, Fabian; von Goessel, Heiko; Rascher, Wolfgang; Jüngert, Jörg

2017-07-06

Congenital cystic lymphangiomas are benign malformations due to a developmental disorder of lymphatic vessels. Besides surgical excision, sclerosant therapy of these lesions by intracavitary injection of OK-432 (Picibanil®), a lyophilized mixture of group A Streptococcus pyogenes, is a common therapeutical option. For an appropriate application of OK-432, a detailed knowledge about the structure and composition of the congenital cystic lymphangioma is essential. SonoVue® is a commercially available contrast agent commonly used in sonography by intravenous and intracavitary application. Here we report the case of 2 month old male patient with a large thoracic congenital cystic lymphangioma. Preinterventional imaging of the malformation was performed by contrast-enhanced ultrasound after intracavitary application of SonoVue® immediately followed by a successful sclerotherapy with OK-432. Contrast agent-enhanced ultrasound imaging offers a valuable option to preinterventionally clarify the anatomic specifications of a congenital cystic lymphangioma in more detail than by single conventional sonography. By the exact knowledge about the composition and especially about the intercystic communications of the lymphangioma sclerosant therapy becomes safer and more efficient.

Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

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Manar Alwohaib

2017-10-01

Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Science.gov (United States)

2017-05-05

Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

Congenitally missing mandibular second premolars: clinical options.

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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.

Congenital spinal tumor in a patient with encephalocele and hydrocephalus: a case report

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Mahjoub Fatemeh

2011-01-01

Full Text Available Abstract Introduction Encephalocele is a rare congenital abnormality of the central nervous system, where brain tissue protrudes from a defect in the skull. Some anomalies are associated with encephalocele. However, the association of spinal teratoma and encephalocele has not been reported in the English literature. Case presentation We report the case of an Iranian girl with a history of encephalocele surgery, who, at the age of four years, developed an intramedullary spinal teratoma, and discuss the pathogenesis of this association. Conclusion To the best of our knowledge, this is the first report of an association between encephalocele and spinal teratoma.

Iatrogenic gastric perforation in a misdiagnosed case of late presenting congenital diaphragmatic hernia: Report of an avoidable complication

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Pradeep Kajal

Full Text Available Introduction: Congenital diaphragmatic hernia (CDH is a defect in diaphragm which usually presents with severe respiratory distress in neonatal period. Presentation of case: We present a case of congenital diaphragmatic hernia presenting at an age of 2.5 years in a male child. It was misdiagnosed as a case of pyothorax for which chest tube was attempted on left side resulting in iatrogenic gastric perforation. The patient was managed by early and prompt surgery. Discussion: Late presentation is usually rare with vast array of respiratory and gastrointestinal symptoms. It often leads to clinical and radiological misdiagnosis. Conclusion: Surgical intervention in misdiagnosed cases can lead to catastrophic iatrogenic complications. Keywords: Case report, Congenital diaphragmatic hernia, Pyothorax, Chest tube, Iatrogenic gastric perforation

Congenital upper lip pit: A rare case report

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Leena James

2015-01-01

Full Text Available One of the rarest developmental malformations of the lip is congenital lip pits. They are usually seen as bilateral depressions in the vermilion zone of the lip and occur on the paramedian portion of the vermilion border of the lip. They are extremely rare in the upper lip. Lip pits are due to the failure of complete union of embryonic lateral sulci of the lip/notching of lip at an early stage of development with fixation of tissues of the base of the notch. Lip pits have also been associated with a variety of other congenital disorders and other malformations. The clinical and pathologic picture and the therapeutic aspects of this condition are discussed in this paper.

Coat-sleeve type giant congenital melanocytic nevus with intraoral blue nevus: A rare case report

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Lata M Kale

2017-01-01

Full Text Available Congenital melanocytic nevi (CMN are visible hyperpigmented (melanocytic, benign, tumor like proliferations in the skin resulting from faulty development of pigment cell precursors in the embryo, and are composed of an abnormal mixture of skin elements. Giant congenital melanocytic nevus (GCMN is usually defined as a melanocytic lesion present at birth that will reach a larger size in adulthood. GCMN is a rare variety of CMN which is characterized by its size (diameter ≥20 cm and the potential for malignant transformation. It is infrequently associated with other findings, which makes the clinical picture complex. In this case, we report a rare association of GCMN with intraoral blue nevus in a 24-year-old male patient.

Sound frequency affects speech emotion perception: Results from congenital amusia

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Sydney eLolli

2015-09-01

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

Congenital malformations in paediatric and neurosurgical practices ...

African Journals Online (AJOL)

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

Late presentation of congenital dislocation of the knee: a case report.

Science.gov (United States)

Sudesh, Pebam; Singh, Daljit; Goni, Vijay; Rangdal, Sushil; Chaudhary, Susheel

2013-12-01

Congenital dislocation of the knee is a rare disorder. Late presentation of congenital dislocation of the knee at an older age is a therapeutic challenge. A 12-year-old girl presented to us with congenital dislocation of the knee and with complaints of limp, short limb, and pain on weight bearing. Two-stage surgery was performed with quadricepsplasty followed by gradual distraction in the first stage and repeat quadricepsplasty, anterior capsular release, and open reduction in the second stage. The result was fair to good with a stable and painless knee on walking. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Multiple congenital PSS in a dog: case report and literature review.

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Leeman, Jessica J; Kim, Stanley E; Reese, David J; Risselada, Marije; Ellison, Gary W

2013-01-01

A 4 yr old spayed female mixed-breed dog presented with a 2 yr history of recurring increases in liver enzymes. Two congenital portosystemic shunts (PSSs) were identified using computed tomography (CT) angiography, which included a portoazygous and portorenal extrahepatic shunt. Double right renal veins were also identified. The shunts were successfully identified and attenuated with cellophane banding. Multiple congenital PSS is a rare phenomenon, but should be considered during exploratory laparotomy for PSS and in dogs with poor response to surgical attenuation of a single PSS. CT proved to be a crucial part of accurate diagnosis and surgical planning for this dog with multiple congenital PSS.

Severe congenital penile torsion with anterior urethral diverticulum: A case report

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Amilal Bhat

2018-03-01

Full Text Available Introduction: We present a rare case of severe penile torsion of 180° along with giant congenital anterior urethral diverticula. Presentation of these two rare anomalies together is extremely rare and has not been reported yet. The extreme rarity of the case and its management warrants this presentation. Observation: A 5 years old boy presented to us as a case of epispadias with post-void dribbling and wetting of the underwears. On examination, he was found to be a case of severe congenital penile torsion with diversion and rotation of median raphae in a counterclockwise fashion upto the midline dorsally confirming 180° torsion. During voiding, there was appearance of a swelling in distal penile region with passage of urinary drops while compressing it. Micturating cystourethrogram showed diverticula in penile and bulbar urethra. Torsion was completely corrected by penile de-gloving in a plane between two layers of buck fascia and mobilization of the urethra along with spongiosum proximally upto the penoscrotal junction and distally upto the glans. Diverticula was laid open and underwent urethroplasty along with double breasting of thickened diverticular tissue. Torsion was completely corrected after surgery. Post-operative recovery was uneventful. Urine culture was sterile and uroflowmetry showed maximal urinary flow of 12 ml/s at 3 months postoperatively. Conclusions: Penile de-gloving and adequate urethral mobilization corrects the severe penile torsion of 180°. Correction of severe torsion and urethroplasty is feasible in a single stage with good results. Keywords: Penile torsion, Urethral diverticula, Congenital anomalies, Mobilization of urethra, Urethroplasty, Double Breasting, Correction of penile torsion

CONCEPTS OF COLORS IN CHILDREN WITH CONGENITAL BLINDNESS

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Daniela DIMITROVA-RADOJICHIKJ

2015-11-01

Full Text Available This descriptive qualitative interview study in¬ves¬tigates knowledge of colours in students who are congenitally blind. The purpose of this research was to explore how the lack of direct experience with colour, as a result of congenital blindness, affects judgments about semantic concepts. Qualitative methods were used to conduct interviews with 15 students. The results of the study indicate that students know the colours and have a favourite colour. The implications for practice are to pay more attention when we teach students with congenital blindness to associate colours with specific objects.

Long-term psychosocial consequences of surgical congenital malformations.

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Diseth, Trond H; Emblem, Ragnhild

2017-10-01

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

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

Congenital simple hamartoma of the retinal pigment epithelium: a case report

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Mariana Rossi Thorell

2014-04-01

Full Text Available We report the case of a 56-year-old woman who presented for a routine ophthalmological examination without visual symptoms and had a unilateral black retinal lesion that was detected by clinical examination. Fluorescein angiography and optical coherence tomography findings were compatible with a congenital simple hamartoma of the retinal pigment epithelium. It is very important to detect this tumor and differentiate it from other pigmented fundus lesions that can compromise visual function or result in systemic conditions such as those caused by malignant tumors.

[Congenital cytomegalovirus infection manifesting as neonatal respiratory distress in an HIV-exposed uninfected newborn].

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Pham, A; El Mjati, H; Nathan, N; Kieffer, F; Mitanchez, D

2017-09-01

Cytomegalovirus (CMV) is one of the most common intrauterine infections, affecting approximately 1% of all live births. There are few reports on congenital CMV infections manifesting as isolated pneumonitis. We report a case of congenital CMV with neonatal respiratory distress affecting an HIV-exposed uninfected infant. This infant required noninvasive ventilation beginning within the first 15min of life. The initial chest X-ray showed diffuse bilateral ground-glass opacifications. Bacterial infection, meconium aspiration and hyaline membrane disease were excluded. Salivary quantitative CMV PCR was positive (2,342,261IU/mL) and serum viral load for CMV was low (476IU/mL). Bronchoalveolar lavage (BAL) performed on day 12 for quantitative CMV PCR was significantly positive (1,045,942IU/mL). Intravenous ganciclovir treatment was started on day 14 (7.5mg/kg/12h) for 2 weeks and oral valganciclovir (15mg/kg/12h) was given for 4 weeks afterwards. Ventilatory support was stopped on day 18. HIV serum viral load was negative on day 30. Congenital CMV infection can present as isolated pneumonitis with persistent neonatal respiratory symptoms, emphysematous lung disease, or persistent pulmonary hypertension. If this diagnosis is suspected, and even if CMV viremia remains low, BAL with quantitative CMV PCR must be performed to ascertain the diagnosis and indicate antiviral treatment. HIV-exposed uninfected infants have higher rates of congenital CMV infection when the mother's CD4 rate isCMV transmission in HIV-exposed uninfected infants have occurred by maternal endogenous reactivation or reinfection. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

Congenital Multidrug-resistant Tuberculosis in a Neonate: A Case Report.

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Lhadon, Tenzin; Jullien, Sophie

2018-04-20

Multidrug-resistant tuberculosis (MDR-TB) is a well-identified raising public health concern worldwide. However, the data available on MDR-TB in children and particularly in the neonate age group are limited. Congenital tuberculosis (TB) is rare, and its diagnosis is challenging because of non-specific manifestations. The choice of anti-tubercular drugs is difficult because of the lack of international consensus as a consequence of the scarcity of evidence-based data on this age group. We hereby present a case from Bhutan of a 23-day-old male neonate with congenital MDR-TB. His mother was diagnosed with disseminated TB, and treatment was commenced 11 days post-partum. Congenital transmission of TB was suspected, as direct postnatal transmission was unlikely and thorough screening of contacts for TB was negative. In this case, the mother's MDR-TB status was revealed only after her newborn's MDR-TB diagnosis.

During childhood unrecognized congenital heart defect in patient with Turner syndrome, and its implications

International Nuclear Information System (INIS)

Klaskova, E.; Kapralova, S.; Zapletalova, J.; Tuedoes, Z.

2015-01-01

Congenital heart disease affects approximately 50 % of individuals with Turner syndrome (TS). Bicuspid aortic valve, aortic coarctation, ascending aorta dilatation and arterial hypertension are important risk factors for life-threatening aortic dissection or rupture. Authors discuss the importance of a careful cardiac examination including cardiac magnetic resonance imaging study and life-long follow-up by experienced cardiologist in TS patients, and point out high maternal mortality and morbidity during pregnancy. They present a case report of woman with TS and the above-mentioned in childhood unrecognized congenital heart defects that underwent infertility treatment without pre conceptional counselling focused on cardiovascular risk for aortic dissection. (author)

Angle closure glaucoma in congenital ectropion uvea

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Grace M. Wang

2018-06-01

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

Feasibility of office CO2 laser surgery in patients affected by benign pathologies and congenital malformations of female lower genital tract.

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Frega, A; Verrone, A; Schimberni, M; Manzara, F; Ralli, E; Catalano, A; Schimberni, M; Torcia, F; Cozza, G; Bianchi, P; Marziani, R; Lukic, A

2015-01-01

Traditional surgery presents some disadvantages, such as the necessity for general anesthesia, hemorrhage, recurrence of pathology, and the possible onset of dyspareunia due to an excessive scarring. CO2 laser surgery might resolve these problems and might be employed in a wider range of clinical indications than usual. We examined the results of CO2 laser surgery in patients affected by benign pathologies and congenital malformations of the female lower genital tract. In this observational study, we enrolled 49 women who underwent CO2 laser surgery for the following indications: Bartholin's gland cyst, imperforate hymen, vaginal septum, Nabothian cyst, and vaginal polyps. Feasibility, cost-effectiveness, complication rate, recurrence rate, short- and long-term outcomes were assessed. All procedures were carried out in a short operative time, without any intraoperative complications. Only 1 (2.0%) out of 49 patients required a hemostatic suture for bleeding. Postoperative period was uneventful in all patients, except 6 (12.2%) out of 49 patients who reported pain one day after surgery, successfully treated with paracetamol. Healing was rapid and excellent in all cases; no wound infection, scarring or stenosis were noticed. Preoperative symptoms reduced or disappeared in all cases. No recurrence was observed and no re-intervention was needed. CO2 laser surgery provides several advantages over traditional surgery, as its systematic use in treating pre-invasive, benign, and congenital pathologies of the female lower genital tract reduces patient discomfort, improves short- and long-term outcomes, and optimizes cost-effectiveness.

Case Report: Emergency awake craniotomy for cerebral abscess in a patient with unrepaired cyanotic congenital heart disease [version 1; referees: 2 approved

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Corinne D’Antico

2016-10-01

Full Text Available We report the case of a 39-year-old male with complex cyanotic congenital heart disease undergoing emergency craniotomy for a cerebral abscess. Maintenance of intraoperative hemodynamic stability and adequate tissue oxygenation during anesthesia may be challenging in patients with cyanotic congenital heart disease. In this case, we decided to perform the surgery as an awake craniotomy after interdisciplinary consensus. We discuss general aspects of anesthetic management during awake craniotomy and specific concerns in the perioperative care of patients with congenital heart disease.

Case Report: Emergency awake craniotomy for cerebral abscess in a patient with unrepaired cyanotic congenital heart disease [version 2; referees: 2 approved

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Corinne D’Antico

2017-02-01

Full Text Available We report the case of a 39-year-old male with complex cyanotic congenital heart disease undergoing emergency craniotomy for a cerebral abscess. Maintenance of intraoperative hemodynamic stability and adequate tissue oxygenation during anesthesia may be challenging in patients with cyanotic congenital heart disease. In this case, we decided to perform the surgery as an awake craniotomy after interdisciplinary consensus. We discuss general aspects of anesthetic management during awake craniotomy and specific concerns in the perioperative care of patients with congenital heart disease.

Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation.

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Arruda, Bailey L; Arruda, Paulo H; Magstadt, Drew R; Schwartz, Kent J; Dohlman, Tyler; Schleining, Jennifer A; Patterson, Abby R; Visek, Callie A; Victoria, Joseph G

2016-01-01

Congenital tremors is a sporadic disease of neonatal pigs characterized by action-related repetitive myoclonus. A majority of outbreaks of congenital tremors have been attributed to an unidentified virus. The objectives of this project were to 1) detect potential pathogen(s) in samples from piglets with congenital tremors and 2) develop an infection model to reproduce disease. Using next-generation sequencing, a divergent lineage pestivirus was detected in piglets with congenital tremors. The virus was originally most closely related to a bat pestivirus but is now more closely related to a recently published novel porcine pestivirus provisionally named atypical porcine pestivirus. A quantitative real-time PCR detected the virus in samples from neonatal piglets with congenital tremors from two separate farms, but not in samples from unaffected piglets from the same farm. To fulfill the second objective, pregnant sows were inoculated with either serum containing the pestivirus or PBS (control) by intravenous and intranasal routes simultaneously with direct inoculation of fetal amniotic vesicles by ultrasound-guided surgical technique. Inoculations were performed at either 45 or 62 days of gestation. All sows inoculated with the novel pestivirus farrowed piglets affected with congenital tremors while PBS-inoculated control piglets were unaffected. Tremor severity for each piglet was scored from videos taken 0, 1 and 2 days post-farrowing. Tremor severity remained relatively constant from 0 to 2 days post-farrowing for a majority of piglets. The prevalence of congenital tremors in pestivirus-inoculated litters ranged from 57% (4 out of 7 affected piglets) to 100% (10 out of 10 affected piglets). The virus was consistently detected by PCR in tissues from piglets with congenital tremors but was not detected in control piglets. Samples positive by PCR in greater than 90% of piglets sampled included brainstem (37 out of 41), mesenteric lymph node (37 out of 41

Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation.

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Bailey L Arruda

Full Text Available Congenital tremors is a sporadic disease of neonatal pigs characterized by action-related repetitive myoclonus. A majority of outbreaks of congenital tremors have been attributed to an unidentified virus. The objectives of this project were to 1 detect potential pathogen(s in samples from piglets with congenital tremors and 2 develop an infection model to reproduce disease. Using next-generation sequencing, a divergent lineage pestivirus was detected in piglets with congenital tremors. The virus was originally most closely related to a bat pestivirus but is now more closely related to a recently published novel porcine pestivirus provisionally named atypical porcine pestivirus. A quantitative real-time PCR detected the virus in samples from neonatal piglets with congenital tremors from two separate farms, but not in samples from unaffected piglets from the same farm. To fulfill the second objective, pregnant sows were inoculated with either serum containing the pestivirus or PBS (control by intravenous and intranasal routes simultaneously with direct inoculation of fetal amniotic vesicles by ultrasound-guided surgical technique. Inoculations were performed at either 45 or 62 days of gestation. All sows inoculated with the novel pestivirus farrowed piglets affected with congenital tremors while PBS-inoculated control piglets were unaffected. Tremor severity for each piglet was scored from videos taken 0, 1 and 2 days post-farrowing. Tremor severity remained relatively constant from 0 to 2 days post-farrowing for a majority of piglets. The prevalence of congenital tremors in pestivirus-inoculated litters ranged from 57% (4 out of 7 affected piglets to 100% (10 out of 10 affected piglets. The virus was consistently detected by PCR in tissues from piglets with congenital tremors but was not detected in control piglets. Samples positive by PCR in greater than 90% of piglets sampled included brainstem (37 out of 41, mesenteric lymph node (37 out of 41

Congenital pial arteriovenous fistula in the temporal region draining into cavernous sinus: A case report

International Nuclear Information System (INIS)

Zhang, Ziyin; Wang, Chaohua; Zhang, Changwei; Xie, Xiaodong; Wang, Kun; Tang, Jianjian

2013-01-01

This report concerns a 4-month-old infant with progressive prominent and redness of his left eye since birth. This report concerns a 4-month-old infant with progressive prominent redness of his left eye since birth. Angiography revealed a congenital pial arteriovenous fistula between the temporal branch of the left posterior cerebral artery and left cavernous sinus through the sphenoparietal sinus, a condition not reported in the literature. The fistula was successfully occluded with two micro-coils by vertebrobasilar approach.

[Papillary thyroid carcinoma in a child with congenital dyshormonogenetic hypothyroidism. Case report].

Science.gov (United States)

Orellana, María José; Fulle, Angelo; Carrillo, Diego; Escobar, Lucía; Ebensperger, Alicia; Martínez, Raúl; Rumié Carmi, Hana

Papillary thyroid carcinoma (PTC) is a rare childhood disease. The development of PTC in dyshormonogenetic congenital hypothyroidism (CH) is infrequent, with very few case reports in literature. To report a case of PTC in a boy with dyshormonogenetic CH without goitre and exposed to ionising radiation. To evaluate relationships between these factors and development of PTC. We present a boy with dyshormonogenetic CH since birth. Early hormonal substitution was initiated, with subsequent normal levels of thyrotropin and thyroid hormones. He has also congenital cardiomyopathy, exposed to interventional treatment with 10 heart catheterisations, and approximately 26 chest X-rays at paediatric doses. A thyroid nodule was found in thyroid echography at the age of 6 years old. Fine needle aspiration biopsy confirmed high probability of thyroid carcinoma (Bethesda 5). The pre-surgical thorax and cerebral scan showed no evidence of metastasis. The patient underwent total thyroidectomy. Pathological examination revealed a 0.5cm papillary thyroid micro-carcinoma in the right lobe, with no evidence of dissemination. Genetic mutations and radiation exposure may play an important role in the development of PTC. There may be common pathways between dyshormonogenetic CH and thyroid carcinoma that need further investigation. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Congenital Liver Cyst in a Neonatal Calf

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Nora Nogradi

2013-01-01

Full Text Available Congenital serous cysts attached to the liver capsule are usually small and multiple, but can be solitary, grow extremely large, and become symptomatic. They are considered rare incidental findings during laparotomies or necropsies and thier occurrence is well described in the human literature, with limited reports from the veterinary literature. This report describes the ante-mortem diagnosis and successful surgical removal of a large congenital liver cyst in a neonatal calf.

Congenital transverse deficiency of the tibia and fibula: a report of two cases

International Nuclear Information System (INIS)

Yasui, N.; Nakase, T.; Sahara, W.; Ochi, T.; Okumura, E.; Sato, M.

2000-01-01

We report two similar, but unrelated, patients with congenital bilateral partial deficiencies of the tibia and fibula associated with intact feet. In both patients, the tibia and fibula were absent on initial radiographs, while the femur and the tarsal bones were well developed and there was bilateral teratologic dislocation of the hips. Ultrasound and magnetic resonance imaging (MRI) studies suggested the presence of cartilaginous remnants of the tibia and fibula. There were multidirectional instabilities in the knees and ankles. The clinical and radiological features of these cases are distinct from those of congenital longitudinal deficiency of the tibia, in which the fibula is always preserved, and from longitudinal deficiency of the fibula, in which the tibia is present and the foot is usually involved. We suggest that the bilateral partial deficiencies of the tibia and fibula associated with the intact foot and teratologic dislocation of the hips is a single-entity disorder, possibly categorized as an intercalary transverse deficiency of the lower limb. (orig.)

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.

Congenital malaria in China.

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Zhi-Yong Tao

2014-03-01

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

Congenital milia En plaque on scalp

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Sangita Ghosh

2015-01-01

Full Text Available Milia en plaque is a rare disease entity characterized by confluence of multiple keratin-filled cysts resulting from the obstruction of hair follicle without any preceding primary dermatosis. Fewer than 40 cases have been reported so far in dermatological literature, and most cases are described to occur in adults and in the peri-auricular area. We describe a case of congenital MEP on scalp of a five-year-old boy with a blaschkoid extension into posterior nuchal area. This case report claims its uniqueness because of the unusual site and congenital presentation.

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

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Monica Matteo

2004-06-01

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

The Return of Congenital Rickets, Are We Missing Occult Cases?

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Elidrissy, Abdelwahab T H

2016-09-01

Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.

Xenopus: An Emerging Model for Studying Congenital Heart Disease

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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

Anoftalmia associada à catarata congênita: relato de caso Anophthalmia and congenital cataract: case report

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Alessandro Santana

2005-06-01

Full Text Available Apresentação de um caso de anoftalmia e catarata congênita associada a malformações sistêmicas. Paciente, 6 meses, do sexo masculino, com anoftalmia à esquerda e catarata congênita polar posterior à direita. Instituiu-se terapêutica cirúrgica por meio de aspiração do núcleo e córtex com pequena incisão sem implante de lente intra-ocular, e capsulorrexe posterior com vitrectomia. A associação entre anoftalmia e catarata congênita é condição rara em que o diagnóstico e tratamento precoces são fundamentais para adequada reabilitação do paciente.The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

Screening for congenital malformations by ultrasonography in the general population of pregnant women: factors affecting the efficacy

DEFF Research Database (Denmark)

Tabor, Ann; Zdravkovic, Milica Branislava; Perslev, Annette

2003-01-01

. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

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

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

2013-05-01

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

Differential Protein Expression in Congenital and Acquired Cholesteatomas.

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Seung-Ho Shin

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

Congenital Constriction Band Syndrome

OpenAIRE

Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

2008-01-01

Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

Angle closure glaucoma in congenital ectropion uvea.

Science.gov (United States)

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

2018-06-01

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

Gastric Duplication Cyst: A Rare Congenital Disease Often Misdiagnosed in Adults

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Jessica Falleti

2013-01-01

Full Text Available Gastrointestinal duplication is a rare congenital disease which affected more commonly the ileum, while the stomach is rarely involved. Generally diagnosed in paediatric or young age, it could be difficult to suspect a gastrointestinal duplication in adults. Herein, we report a 55-year-old male with a gastric duplication cyst found on routinely checkup for chronic hepatitis and first misdiagnosed as a gastrointestinal stromal tumor (GIST; we also discuss its embryology.

Congenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its development

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Weiss Hans-Rudolf

2008-11-01

Full Text Available Abstract Background The exact etiology of congenital scoliosis remains unknown as yet. It seems that its development may be influenced by both genetic predisposition and environmental factors, at varying degrees. International bibliography features few cases of monozygotic twins with congenital scoliosis. The aim of this study is to report a case in monozygotic twins and review the literature relating to the description of similar cases as well as the pathophysiological mechanism involved in its development. Methods Clinical examination and simple X-rays revealed scoliosis of differing degrees and types in male monozygotic twins with moderate mental retardation and dyslalia. Results Congenital scoliosis identified in both twins. In the first, this was manifested as left thoracic scoliosis, with Cobb angle of 34 degrees while in the second as left thoracolumbar scoliosis with Cobb angle of 10 degrees. Both were found to suffer from incarcerated hemivertebrae. Conclusion According to both its clinical identification and severity and to its course, not only the genetic but the environmental factors seem to play a leading role in the appearance of the condition.

Congenital Malformations in River Buffalo (Bubalus bubalis)

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

2017-01-01

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

Congenital heart disease with high origin of coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin

2002-01-01

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

Imaging diagnosis of congenital heart disease with single coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

2003-01-01

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

Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

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Rabah M. Shawky

2014-10-01

Full Text Available We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS, (microtia, absent patella and short stature. She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.

Surgical Treatment Of Congenital Radioulnar Synostosis In Children: A Case Report

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Achraf El Bakkaly

2018-01-01

Full Text Available Congenital radioulnar synostosis is an uncommon condition, only 400 cases have been reported in the world literature. Often bilateral, it can be recognized from birth by a clinical examination if it is attentive (examination of the prono-supination of the two elbows. It is in fact often discovered later, especially in unilateral forms, in children of school age. The proximal congenital radioulnar synostosis often results in functional, cosmetic limitations of the upper limb especially in the bilateral forms. Rotational osteotomy through the synostosis site is the usual procedure. The techniques and sites envisaged for this surgery are numerous, with multiple difficulties, risks and possible complications. We propose the observation of an eight-year-old boy with a symptomatic form of proximal radioulnar synostosis. The surgical treatment consisted of a resection of the synostosis with rotational transversalosteotomy of the two bones of the forearm completed by a plaster in neutral position. Clinical results, evaluated at an average of twelve months postoperatively, were found to be satisfactorily on aesthetic and functional levels. The aim of our work is to highlight our simple and reliable surgical procedure of the osteotomy of the synostosis maintained by spindles, allowing the functional improvement of the movements of the forearm of our child and thus a normal life.

MR imaging of fukuyama congenital muscular dystrophy; a case report

International Nuclear Information System (INIS)

Yoo, Jeong Hyun; Kim, Yoo Kyung; Koo, Hae Soo; Park, Ki Deuk

2000-01-01

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature

Congenital Left Circumflex Coronary Artery Atresia Detected by 64-Slice Computed Tomography: A Case Report

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Chen-Yuan Liu

2007-06-01

Full Text Available A variety of coronary artery disorders, including intramyocardial coronary segments and coronary artery anomalies, can result in sudden cardiac death, especially in young adults. The detection of structural coronary artery abnormalities is important in the management of patients at risk of sudden cardiac death. Coronary artery anomalies occur in about 1% of the population. Congenital absence of left circumflex coronary artery (LCX is a very rare vascular anomaly, and few cases have been reported in the literature, with a frequency of only 0.003% in all patients who underwent coronary angiography. Although coronary catheterization is the gold standard for the evaluation of coronary arterial patency disease, noninvasive computed tomography (CT is considered the diagnostic method of choice for the detection and evaluation of coronary artery anomaly. Herein, we report the case of a 17-year-old girl who presented with exertional dyspnea and chest pain and who was studied at our emergency department with the final diagnosis of LCX atresia detected by 64-slice CT. She may be the first case of congenital LCX atresia proved by multislice CT.

Congenital Pulmonary Malformation in Children

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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.

Congenital cerebral palsy and prenatal exposure to self-reported maternal infections, fever, or smoking

DEFF Research Database (Denmark)

Streja, Elani; Miller, Jessica; Bech, Bodil H

2013-01-01

OBJECTIVE: The objective of the study was to investigate the association between maternal self-reported infections, fever, and smoking in the prenatal period and the subsequent risk for congenital cerebral palsy (CP). STUDY DESIGN: We included the 81,066 mothers of singletons born between 1996...... and midgestation. We identified 139 CP cases including 121 cases of spastic CP (sCP) as confirmed by the Danish National Cerebral Palsy Register. Cox proportional hazards regression models were used to estimate adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs). RESULTS: Self-reported vaginal...

MANAGEMENT OF CONGENITAL SYMMASTIA WITH Z PLASTY : A CASE REPORT

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Biswajit

2015-03-01

Full Text Available BACKGROUND : Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (sym meaning 'together', and mastos meaning 'breast' and was first presented by Spence et al. in 1983. Two forms of symmastia exist: congenital and acquir ed form. Congenital symmastia is a rare condition in which web - like soft tissue traverses the sternum to connect the breasts medially. There is few publication of this condition. Treatment options for this condition are also few. MATERIAL AND METHOD : Thoug h Periareolar approach, and vertical reduction mammoplasty has been described as a method to reduce the size of the breast as well as correct symmastia . We used z plasty in our case because the patient was not willing for reduction of the size of the breas t. RESULT : The patient had well defined midline groove, symmetric breast on each side. CONCLUSION : Z plasty can be an innovative method for creation of midline groove in congenital symmastia in patients of low socioeconomic status as an alternative to redu ction mammoplasty and liposuction

Pediatric congenital vertebral artery arteriovenous malformation

International Nuclear Information System (INIS)

Shownkeen, Harish; Chenelle, Andrew G.; Origitano, Thomas C.; Bova, Davide

2003-01-01

Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

Science.gov (United States)

Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan

2011-01-08

To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis. All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein. This study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.

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)

Living Donor Liver Transplantation for Unresectable Liver Adenomatosis Associated with Congenital Absence of Portal Vein: A Case Report and Literature Review

OpenAIRE

Brasoveanu, Vladislav; Ionescu, Mihnea Ioan; Grigorie, Razvan; Mihaila, Mariana; Bacalbasa, Nicolae; Dumitru, Radu; Herlea, Vlad; Iorgescu, Andreea; Tomescu, Dana; Popescu, Irinel

2015-01-01

Patient: Female, 21 Final Diagnosis: Unresectable liver adenomatosis associated with congenital absence of portal vein Symptoms: — Medication: — Clinical Procedure: Living donor liver transplantation Specialty: Transplantology Objective: Rare disease Background: Abernethy malformation (AM), or congenital absence of portal vein (CAPV), is a very rare disease which tends to be associated with the development of benign or malignant tumors, usually in children or young adults. Case Report: We rep...

CONCEPTS OF COLORS IN CHILDREN WITH CONGENITAL BLINDNESS

OpenAIRE

DIMITROVA-RADOJICHIKJ Daniela

2015-01-01

This descriptive qualitative interview study in¬ves¬tigates knowledge of colours in students who are congenitally blind. The purpose of this research was to explore how the lack of direct experience with colour, as a result of congenital blindness, affects judgments about semantic concepts. Qualitative methods were used to conduct interviews with 15 students. The results of the study indicate that students know the colours and have a favourite colour. The implications for practice are to pay ...

Congenital craniopharyngioma treated by radical surgery: case report and review of the literature.

Science.gov (United States)

Kageji, Teruyoshi; Miyamoto, Takeshi; Kotani, Yumiko; Kaji, Tsuyoshi; Bando, Yoshimi; Mizobuchi, Yoshifumi; Nakajima, Kohei; Nagahiro, Shinji

2017-02-01

Craniopharyngiomas are 5-10 % of all pediatric tumors, but are seldomly encountered in the perinatal period. Only seven instances of a truly antenatal diagnosis of a congenital craniopharyngioma that subsequently underwent radical surgery have been reported. We present the case of a patient who received the diagnosis of a suprasellar tumor during the prenatal period and received radical surgery. We report a case of a neonatal craniopharyngioma treated surgically. The pregnancy progressed uneventfully until a routine ultrasound at 37 weeks of gestation showed a 15 × 15 mm high echoic mass in the center of the fetal head. Neonatal Gd-enhanced T1-weighted MRI at 5 days of life showed a homogenously enhanced mass (16×22×15 mm) in the sellar and suprasellar lesion. As the tumor showed rapid growth at the 3rd month of life, the patient underwent a surgical treatment and the mass was totally removed. Three years later, the physical and mental development of the patient was normal, and Gd-MRI studies showed no tumor recurrence. The present case is the eighth case of a truly antenatal diagnosis of a craniopharyngioma that underwent successful radical surgery. Craniopharyngioma is a benign tumor and thought to be a slow growing tumor in childhood. The results of radical surgery were very poor, and the mortality and morbidity rates were high in the previous reports due to the huge size of tumor at operation. The present case demonstrated the rapid growth in short interval of Gd-MRI. This is the first report of tumor kinetics of congenital craniopharyngioma with previous reports. The calculated tumor doubling time in our case was 37 days.

Congenital Mucous Retention Cyst of the Anterior Hard Palate! the First Case Report

OpenAIRE

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-01-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or ‘Neuman’s Tumour’ as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed...

Situs Inversus with Levocardia and Congenitally Corrected Transposition of Great Vessels in a 35 year old Male: A Case report.

Science.gov (United States)

Ghorbnazadeh, Atefeh; Zirak, Nahid; Fazlinezhad, Afsoon; Moenipour, Aliasghar; Manshadi, Hamid Hoseinikhah; Teshnizi, Mohammad Abbasi

2017-01-01

Situs inversus with levocardia and congenitally corrected transposition of the great arteries represents a relatively very rare congenital condition and most patients are diagnosed in infancy or early age. This case report describes a 35-year old man with congenitally corrected transposition of the great arteries which presented with a five month history of exertional dyspnea. A diagnosis was confirmed by transesophageal echocardiogram, showing situs inversus, levocardia, atrioventricular and ventriculoarterial discordance. He underwent physiologic repair, and was discharged thirty five days after the operation, in a good general condition. Although management of the corrected transposition of the great arteries patients remains controversial, the recommendation is that physiologic repair may be the procedure of choice for some patients, particularly complicated cases.

Maternal steroid therapy for fetuses with second-degree immune-mediated congenital atrioventricular block: a systematic review and meta-analysis.

Science.gov (United States)

Ciardulli, Andrea; D'Antonio, Francesco; Magro-Malosso, Elena R; Manzoli, Lamberto; Anisman, Paul; Saccone, Gabriele; Berghella, Vincenzo

2018-03-07

To explore the effect of maternal fluorinated steroid therapy on fetuses affected by second-degree immune-mediated congenital atrioventricular block. Studies reporting the outcome of fetuses with second-degree immune-mediated congenital atrioventricular block diagnosed on prenatal ultrasound and treated with fluorinated steroids compared with those not treated were included. The primary outcome was the overall progression of congenital atrioventricular block to either continuous or intermittent third-degree congenital atrioventricular block at birth. Meta-analyses of proportions using random effect model and meta-analyses using individual data random-effect logistic regression were used. Five studies (71 fetuses) were included. The progression rate to congenital atrioventricular block at birth in fetuses treated with steroids was 52% (95% confidence interval 23-79) and in fetuses not receiving steroid therapy 73% (95% confidence interval 39-94). The overall rate of regression to either first-degree, intermittent first-/second-degree or sinus rhythm in fetuses treated with steroids was 25% (95% confidence interval 12-41) compared with 23% (95% confidence interval 8-44) in those not treated. Stable (constant) second-degree congenital atrioventricular block at birth was present in 11% (95% confidence interval 2-27) of cases in the treated group and in none of the newborns in the untreated group, whereas complete regression to sinus rhythm occurred in 21% (95% confidence interval 6-42) of fetuses receiving steroids vs. 9% (95% confidence interval 0-41) of those untreated. There is still limited evidence as to the benefit of administered fluorinated steroids in terms of affecting outcome of fetuses with second-degree immune-mediated congenital atrioventricular block. © 2018 Nordic Federation of Societies of Obstetrics and Gynecology.

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...

Remission of congenital complete heart block without anti-Ro/La antibodies: A case report

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Souvik Mitra

2013-01-01

Full Text Available Anti-Ro/La negative congenital heart block (CHB is uncommon. We report one such case of CHB, with no associated structural heart disease or maternal autoantibodies. The heart block reverted to sinus rhythm spontaneously at two weeks of age, and the patient remains in sinus rhythm at a one year followup. Whether patients with antibody negative complete heart block have a different clinical course is conjectural.

Case Report: Congenital aganglionic megacolon in Nigerian adults ...

African Journals Online (AJOL)

Congenital aganglionic mega colon (Hirschsprung's disease) is a motor disorder in the gut, due to a defect in the craniocaudal migration of the neuroblast originating from the neural crest that occurs during the first twelve weeks of gestation, causing a functional intestinal obstruction, with its attendant complications, ...

Congenital Hepatic Cyst

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Aldo Recinos

2017-04-01

Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

Congenital uronephropathy pattern in children

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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.

Congenital rickets presenting as refractory respiratory distress at birth.

Science.gov (United States)

Tiwari, Soumya; Kumar, Rajesh; Singla, Shilpy; Dudeja, Ajay; Nangia, Sushma; Saili, Arvind

2014-08-01

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

Congenital deformity of the distal extremities in three dogs | Di Dona ...

African Journals Online (AJOL)

Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical and radiographic findings in three dogs with congenital deformity involving ...

Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection.

Science.gov (United States)

Arce-Estrada, Gabriel Emmanuel; Gómez-Toscano, Valeria; Cedillo-Peláez, Carlos; Sesman-Bernal, Ana Luisa; Bosch-Canto, Vanessa; Mayorga-Butrón, José Luis; Vargas-Villavicencio, José Antonio; Correa, Dolores

2017-07-03

We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. A two-month-old male had a twin in utero who disappeared between the 7 th and the 14 th week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood. CMV infection was also discarded by PCR and IgM negative results. Structures suggestive of T. gondii pseudocysts were observed in a biopsy taken during the first functional/esthetic surgery. We conclude that this is a rare case of anophthalmia combined with craniofacial cleft due to congenital toxoplasmosis, that must be considered by physicians. This has not been reported before.

Anaesthesia and familial dysautonomia with congenital insensitivity ...

African Journals Online (AJOL)

Adele

the HSANs are familial dysautonomia (Riley-Day syndrome or HSAN type III) and congenital ... sion, and excessive vagal reflexes. Central ... His skin was mottled, dry and pale. ... Eye protection is important since affected individuals lack tears,.

Congenital Chylothorax in a Newborn with Down Syndrome

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Nazan Neslihan Doğan

2017-03-01

Full Text Available In the neonatal period, the most common cause of pleural effusion is idiopathic congenital chylothorax. Congenital chylothorax is rarely associated with chromosomal abnormalities, such as Down, Turner and Noonan syndromes. The diagnosis can be made after analysis of the pleural fluid drained by thoracentesis or chest tube placement. During the neonatal period, chylothorax treatment is composed of conservative and surgical therapies. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. In this report, a case of congenital chylothorax, in a newborn with Down syndrome, treated by octreotide after failure of chest tube drainage and medical treatment (total parenteral nutrition and medium chain fatty acid formula is presented.

Citomegalovirose congênita: relato de caso Congenital cytomegalovirus infection: a case report

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Patrícia de Fátima Azevedo

2005-12-01

Full Text Available A citomegalovirose congênita sintomática é entidade clínica de grande importância devido a sua vasta sintomatologia fetal. No Brasil, o diagnóstico intra-útero é ainda pouco realizado, apesar do grande arsenal propedêutico. Relatamos um caso de citomegalovirose congênita grave com hepatoesplenomegalia, agenesia parcial do vérmix cerebelar, calcificações intracranianas, placentomegalia, aumento da ecogenicidade intestinal e renal, cardiomegalia, hipoplasia pulmonar, derrame pericárdico e ascite. A ressonância nuclear magnética fetal foi utilizada para confirmação dos achados ultra-sonográficos. A amniocentese foi realizada para análise do líquido amniótico por meio da PCR, sendo evidenciado resultado positivo. O óbito fetal foi constatado na 31ª semana de gestação, sendo confirmados os achados através da citopatologia e estudo anatomopatológico do natimorto. O arsenal propedêutico existente, na atualidade, para diagnóstico intra-útero da citomegalovirose congênita é de grande importância para confirmação diagnóstica e determinação do prognóstico fetal.Congenital cytomegalovirus infection is an important clinical entity, due to its sonographic symptomatology. In Brazil, in utero diagnosis is not accomplished despite the improvements in diagnostic methods. We report a congenital infection including: splenomegaly and hepatomegaly, hypoplasia of the cerebellar vermis, intracranial calcifications, hyperechoic kidneys, hyperechoic bowel, cardiomegaly, lung hypoplasia, ascites, and pericardial effusion. Fetal magnetic resonance imaging confirmed the sonographic findings. Amniocentesis was performed for cytomegalovirus PCR in amniotic fluid, which confirmed fetal infection. Fetal loss occurred in the 31st week of pregnancy. Necropsy studies confirmed the sonographic findings. The diagnostic methods have been useful to confirm congenital cytomegalovirus infection and to establish fetal outcome.

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

OpenAIRE

Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

2008-01-01

A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with ...

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.)

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)

Surgical treatment of congenital thoracolumbar spondyloptosis in a 2-year-old child with vertebral column resection and posterior-only circumferential reconstruction of the spine column: case report.

Science.gov (United States)

Gressot, Loyola V; Mata, Javier A; Luerssen, Thomas G; Jea, Andrew

2015-02-01

Spondyloptosis refers to complete dislocation of a vertebral body onto another. The L5-S1 level is frequently affected. As this condition is rare, few published reports describing its clinical features and surgical outcomes exist, especially in the pediatric patient population. The authors report the presentation, pathological findings, and radiographic studies of a 2-year-old girl who presented to Texas Children's Hospital with a history since birth of progressive spastic paraparesis. Preoperative CT and MRI showed severe spinal cord compression associated with T11-12 spondyloptosis. The patient underwent a single-stage posterior approach for complete resection of the dysplastic vertebral bodies at the apex of the spinal deformity with reconstruction and stabilization of the vertebral column using a titanium expandable cage and pedicle screws. At the 12-month follow-up, the patient remained neurologically stable without any radiographic evidence of instrumentation failure or loss of alignment. To the best of the authors' knowledge, there have been only 2 other children with congenital thoracolumbar spondyloptosis treated with the above-described strategy. The authors describe their case and review the literature to discuss the aggregate clinical features, surgical strategies, and operative outcomes for congenital thoracolumbar spondyloptosis.

Congenital Pyloric Atresia; a report of two cases

International Nuclear Information System (INIS)

Tayeb, Maaen; Khogeer, Suzie; Fallatah, Amna; Hamchou, Mustafa A.

2005-01-01

Congenital pyloric atresia (CPA) is a very rare malformation that constitutes less than 1% of all gas upper gastrointestinal atresias. It is a unique malformation that is commonly seen as an isolated lesion, but can also occur in association with other genetically determined conditions such as hereditary multiple intestinal atresias (HMIA). This is a report of two cases of isolated isolated CPA, outlining aspects of diagnosis and management. A 2-day-old female, a product of 35-weeks gestation via a low cesarean delivery due to a transverse lie to a 25-year-old mother who had gestational insulin dependent diabetes and polyhydraminos was referred because of non-bile stained vomiting. Her abdominal x-ray showed dilated stomach with no gas distally. Gastrograffin meal confirmed the diagnosis of gastric outlet obstruction. She was found to have pyloric artesia. This was excised via longitudinal incision in the pylorus, which was then closed transversely. Subsequently she did well. A 1-year -old female was evaluated because of persistent non-bile stained vomiting. Abdominal x-ray showed dilated stomach with no gas distally and barium meal confirmed the diagnosis of gastric outlet obstruction. She was operated and on during surgery was found to have congenital pyloric atresia. This was excised via longitudinal incsion in the pylorus. She did well. CPA is divided in three types: 1) Pyloric membrane 2) Pyloric artesia without a gap 3) Pyloric artesia with a gap. Both our patients have pyloric diaphagrams. The treatment of CPA is surgical and depends on the type of arteseia. For those with pyloric diaphagram or pyloric artesia without a gap the treatment is excision of diphagaram. This is also of importance in case there is more than one diaphagram. For those with pyloric artesia with a gap, if the gap is short, they should be treated with a Finny or Heineke-Mickulicz pyloroplasty, but if the gap is long then a gastroduodenostomy becomes the treatment of choice

A FRMD7 variant in a Japanese family causes congenital nystagmus.

Science.gov (United States)

Kohmoto, Tomohiro; Okamoto, Nana; Satomura, Shigeko; Naruto, Takuya; Komori, Takahide; Hashimoto, Toshiaki; Imoto, Issei

2015-01-01

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

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

Energy Technology Data Exchange (ETDEWEB)

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

1988-01-01

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

Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

Energy Technology Data Exchange (ETDEWEB)

Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin [Dept. of Radiology, Dong-A University Hospital, Busan (Korea, Republic of)

2014-12-15

While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings.

Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

International Nuclear Information System (INIS)

Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin

2014-01-01

While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings

Congenital scaphoid megalourethra associated with posterior urethral valve: A case report

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Apoorva Achyut Kulkarni

2018-01-01

Full Text Available Congenital scaphoid megalourethra is a very rare congenital anomaly of the anterior urethra in males. Here, a case of scaphoid megalourethra and posterior urethral valves is presented. A one and half year old male child came to us with complaints of ballooning at the tip of penis since birth. Micturating cystourethrogram showed a dilated glanular urethra. The patient underwent a Nesbitt’s longitudinal reduction urethroplasty with a single-staged, single layered repair. Post-operatively, the child passed a healthy stream of urine without straining

Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism

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Wahhaj Beg

2017-10-01

Full Text Available We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

Ascites alone as the presentation of Congenital Tuberculosis

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S Purkait

2015-06-01

Full Text Available Congenital tuberculosis is a rare disease. It usually presents with respiratory distress, fever and organomegaly. We report a case of congenital tuberculosis presenting with ascites only.DOI: http://dx.doi.org/10.3126/jcmsn.v10i1.12766 Journal of College of Medical Sciences-Nepal, 2014, Vol.10(1; 37-40

Case report 868. Congenital bilateral spondylolysis and spondylolisthesis of the fourth cervical vertebra.

Science.gov (United States)

Jeyapalan, K; Chavda, S V

1994-10-01

A case of congenital bilateral spondylolysis of fourth cervical vertebra was reported and the characteristic radiological features shown. Although the diagnosis is often suggested by the plain films, demonstration of the typical CT findings is often necessary to reach a final diagnosis. Awareness of this entity and its specific radiological features will help to differentiate this relatively benign cervical anomaly from other, more ominous, unstable causes of cervical spondylolisthesis such as those related to acute cervical injury. It may also prevent any inappropriate treatment from being undertaken.

Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

International Nuclear Information System (INIS)

Sing, T.M.Y.S.; Wong, K.P.; Young, N.; Le, S.D.V.

1997-01-01

Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors)

Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

Energy Technology Data Exchange (ETDEWEB)

Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound

1997-08-01

Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.

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

OpenAIRE

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

2017-01-01

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

Congenital myopathy is caused by mutation of HACD1

OpenAIRE

Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; DeLuca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C.; Parvari, Ruti

2013-01-01

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abro...

Congenital Becker's nevus with a familial association.

Science.gov (United States)

Book, S E; Glass, A T; Laude, T A

1997-01-01

Becker's nevus is a unilateral, hyperpigmented cutaneous hamartoma usually with hypertrichosis. It occurs predominantly in boys, becoming apparent during adolescence, although several cases of congenital Becker's nevus have been reported. Rarely it may be familial and as such is transmitted in an autosomal dominant pattern. We report a 16-month-old black boy with a hyperpigmented patch on his right shoulder and upper pectoral area that extended down his arm. The patient's father has a similar lesion with hair on his left shoulder which has been present since childhood. Histology of the child's lesion was consistent with Becker's nevus. We believe this to be the first reported case of a congenital Becker's nevus with a familial association.

Congenital Symmastia: A 3-Step Approach

OpenAIRE

Sadaka, Mohamed Saad; Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this con...

Congenital Symmastia: A 3-Step Approach

Science.gov (United States)

Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition. PMID:28293510

Thickened cortical bones in congenital neutropenia

International Nuclear Information System (INIS)

Boechat, M.I.; Gormley, L.S.; O'Laughlin, B.J.

1987-01-01

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described. (orig.)

Thickened cortical bones in congenital neutropenia

Energy Technology Data Exchange (ETDEWEB)

Boechat, M.I.; Gormley, L.S.; O' Laughlin, B.J.

1987-02-01

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.

Resolution of vitiligo following excision of halo congenital melanocytic nevus: a rare case report.

Science.gov (United States)

Wang, Kai; Wang, Zhi; Huang, Weiqing

2016-05-01

Halo congenital melanocytic nevus (CMN) associated with vitiligo is rare, especially with regard to CMN excision. Only two reports of excision of halo CMN following repigmentation of vitiligo are found in the literature. We present a case of a girl with halo CMN and periorbital vitiligo. The halo CMN was excised and followed by spontaneous improvement of vitiligo. The result suggests excision of the inciting lesion may be a promising way to control vitiligo. © 2015 Wiley Periodicals, Inc.

Congenital absence of the portal vein in a boy

International Nuclear Information System (INIS)

Kohda, E.; Hiramatsu, K.; Saeki, Morihiro; Nakano, Miwako; Masaki, Hidekazu; Ogawa, Kenji; Nirasawa, Mali

1999-01-01

Congenital absence of the portal vein (CAPV) is a malformation that is generally thought to be limited to females. We encountered an 11-year-old boy with this malformation. In 17 previously reported cases of CAPV, 2 were male. Three male patients, including our case, were Abernethy type Ib malformation. They had no associated liver tumour and two had no additional congenital abnormality. Conversely, 13 of the 15 female patients had congenital abnormalities and 6 had liver mass lesions. (orig.)

Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.

Science.gov (United States)

Wang, Jenny; Steelman, Charlotte K; Vincent, Robert; Richburg, Delene; Chang, Tiffany S; Shehata, Bahig M

2010-01-01

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.

Congenital Cytomegalovirus Infection: Child Development, Quality of Life and Impact on Daily Life.

NARCIS (Netherlands)

Korndewal, Marjolein J; Oudesluys-Murphy, Anne Marie; Kroes, Aloys C M; Vossen, Ann C T M; de Melker, Hester E

2017-01-01

Congenital cytomegalovirus (cCMV) infection is the most common congenital infection worldwide and can lead to long-term impairments such as developmental delay. It is currently unknown how this affects the daily life of children and their parents. Children For this study, children with cCMV were

Sound frequency affects speech emotion perception: results from congenital amusia.

Science.gov (United States)

Lolli, Sydney L; Lewenstein, Ari D; Basurto, Julian; Winnik, Sean; Loui, Psyche

2015-01-01

Congenital amusics, or "tone-deaf" individuals, show difficulty in perceiving and producing small pitch differences. While amusia has marked effects on music perception, its impact on speech perception is less clear. Here we test the hypothesis that individual differences in pitch perception affect judgment of emotion in speech, by applying low-pass filters to spoken statements of emotional speech. A norming study was first conducted on Mechanical Turk to ensure that the intended emotions from the Macquarie Battery for Evaluation of Prosody were reliably identifiable by US English speakers. The most reliably identified emotional speech samples were used in Experiment 1, in which subjects performed a psychophysical pitch discrimination task, and an emotion identification task under low-pass and unfiltered speech conditions. Results showed a significant correlation between pitch-discrimination threshold and emotion identification accuracy for low-pass filtered speech, with amusics (defined here as those with a pitch discrimination threshold >16 Hz) performing worse than controls. This relationship with pitch discrimination was not seen in unfiltered speech conditions. Given the dissociation between low-pass filtered and unfiltered speech conditions, we inferred that amusics may be compensating for poorer pitch perception by using speech cues that are filtered out in this manipulation. To assess this potential compensation, Experiment 2 was conducted using high-pass filtered speech samples intended to isolate non-pitch cues. No significant correlation was found between pitch discrimination and emotion identification accuracy for high-pass filtered speech. Results from these experiments suggest an influence of low frequency information in identifying emotional content of speech.

Movement Induces the Use of External Spatial Coordinates for Tactile Localization in Congenitally Blind Humans.

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Heed, Tobias; Möller, Johanna; Röder, Brigitte

2015-01-01

To localize touch, the brain integrates spatial information coded in anatomically based and external spatial reference frames. Sighted humans, by default, use both reference frames in tactile localization. In contrast, congenitally blind individuals have been reported to rely exclusively on anatomical coordinates, suggesting a crucial role of the visual system for tactile spatial processing. We tested whether the use of external spatial information in touch can, alternatively, be induced by a movement context. Sighted and congenitally blind humans performed a tactile temporal order judgment task that indexes the use of external coordinates for tactile localization, while they executed bimanual arm movements with uncrossed and crossed start and end postures. In the sighted, start posture and planned end posture of the arm movement modulated tactile localization for stimuli presented before and during movement, indicating automatic, external recoding of touch. Contrary to previous findings, tactile localization of congenitally blind participants, too, was affected by external coordinates, though only for stimuli presented before movement start. Furthermore, only the movement's start posture, but not the planned end posture affected blind individuals' tactile performance. Thus, integration of external coordinates in touch is established without vision, though more selectively than when vision has developed normally, and possibly restricted to movement contexts. The lack of modulation by the planned posture in congenitally blind participants suggests that external coordinates in this group are not mediated by motor efference copy. Instead the task-related frequent posture changes, that is, movement consequences rather than planning, appear to have induced their use of external coordinates.

Congenital Double Elevator Palsy with Sensory Exotropia: A Unique Surgical Management.

Science.gov (United States)

Nagpal, R C; Raj, Anuradha; Maitreya, Amit

2017-01-01

To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with recession and resection of the horizontal recti for exotropia without inferior rectus recession, followed by frontalis sling surgery for congenital ptosis. Favourable surgical outcome was achieved without any complication.

Congenital anomalies in children exposed to antithyroid drugs in-utero: a meta-analysis of cohort studies.

Directory of Open Access Journals (Sweden)

Huixia Li

Full Text Available Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs. However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero.Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs and confidence intervals (CIs for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I2 tests.Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU, methimazole/carbimazole (MMI/CMZ, and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42, 1.64 (95%CI: 1.39-1.92, and 1.83 (95%CI: 1.30-2.56 for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively.The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly.

Congenital Anomalies in Children Exposed to Antithyroid Drugs In-Utero: A Meta-Analysis of Cohort Studies

Science.gov (United States)

Luo, Jiayou; Zeng, Rong; Feng, Na; Zhu, Na; Feng, Qi

2015-01-01

Background Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs). However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero. Methods Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs) and confidence intervals (CIs) for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I 2 tests. Results Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU), methimazole/carbimazole (MMI/CMZ), and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42), 1.64 (95%CI: 1.39-1.92), and 1.83 (95%CI: 1.30-2.56) for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively. Conclusions The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly. PMID:25974033

Congenital myopathy is caused by mutation of HACD1.

Science.gov (United States)

Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; Deluca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C; Parvari, Ruti

2013-12-20

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function.

Congenital ossicular malformation. A study of 27 ears

International Nuclear Information System (INIS)

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

2010-01-01

Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

The oldest record of aquatic amniote congenital scoliosis.

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Tomasz Szczygielski

Full Text Available We report the first occurrence of congenital scoliosis in an early Permian aquatic parareptile, Stereosternum tumidum from Paraná state, Brazil. The spine malformation is caused by a congenital hemivertebra. These observations give insight into the biomechanical aspects of underwater locomotion in an axial skeleton-compromised aquatic amniote. This is the oldest record of a hemivertebra in an aquatic animal.

Massive congenital tricuspid insufficiency in the newborn

International Nuclear Information System (INIS)

Bogren, H.G.; Ikeda, R.; Riemenschneider, T.A.; Merten, D.F.; Janos, G.G.

1979-01-01

Three cases of massive congenital tricuspid incompetence in the newborn are reported and discussed from diagnostic, pathologic and etiologic points of view. The diagnosis is important as cases have been reported with spontaneous resolution. (Auth.)

Congenital Hypothyroidism: Increased Incidence in Yazd Province, Iran

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M. Noori-Shadkam

2012-07-01

Full Text Available Introduction: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation. Its worldwide incidence is estimated to be one in 2500-5500 births. Assessment of thyroid gland in neonates is critical. The aims of this study were to demonstrate the incidence of CH in neonates born in Yazd province, Iran in 1389 (2010 and compare the results with other reported studies and investigate biochemical characteristics of affected infants. Materials & Methods: This is an analytical descriptive cross-sectional study. The study was conducted on all infants (13022 births born in 1389 (March 2010-March 2011. Thyroid stimulating hormone (TSH was measured using ELISA technique. Results: Forty five infants suffered from congenital hypothyroidism with an overall incidence of one in 289 live births. Twenty five of the diagnosed infants were males (incidence 1:261 and twenty were females (incidence 1:325. The incidence of CH in boys was more than girls (P-value = 0.295. The highest incidence of CH was observed in spring followed by summer and the lowest incidence was in autumn followed by winter (P-value=0.000. Conclusion: The CH incidence was 10.3 to 13.8 times more than other countries. The highest CH incidence was in spring followed by summer and the lowest incidence was in autumn followed by winter. It is important that a larger size of cases need to be screened and more information on the aetiology of the affected infants to be obtained

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

NARCIS (Netherlands)

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

2012-01-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

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.

Vocal characteristics of congenital anterior glottic webs in children: A case report.

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Shah, Jay; White, Katherine; Dohar, Joseph

2015-06-01

This case report describes a 5-year-old girl with chronic dysphonia and high-pitched voice since birth. Vocal quality was noted to be harsh. Videostroboscopy revealed significant hyperfunction and a Type II congenital anterior glottic web. Endoscopic division of the anterior glottic web was performed with significant improvement in vocal quality and quality of life. This paper describes methods of analyzing, diagnosing, and treating anterior glottic web with a focus on quality of life. Also, unique acoustic and aerodynamic voice features are identified. No other descriptions of a voice characteristic for anterior glottic web currently exist in the literature. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

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

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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.

Congenital cataracts in two siblings with Wolfram syndrome.

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Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

2010-12-01

Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

Treatment of Class II subdivision malocclusion with congenitally missing upper lateral incisors: A case report

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Siddharth Mehta; Ashima Valiathan; Arun Urala

2014-01-01

Orthodontic treatment for patients with unilateral or bilateral congenitally missing lateral incisor poses a challenge mainly with regard to treatment planning. The use of a diagnostic setup is one of the most important aids in the decision-making process. Two alternatives, orthodontic space closure or space opening for prosthetic replacement exist. The present case report shows use of the microimplant for unilateral upper molar distalization and space closure in a Class-II division 1 subdivi...

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

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

2013-08-01

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

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

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

2007-01-01

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

Cerebral glucose metabolic abnormality in patients with congenital scoliosis

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

2007-07-01

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

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

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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.

Congenital syphilis

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

1983-01-01

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

Ultrabiomicroscopic-Histopathologic Correlations in Individuals with Autosomal Dominant Congenital Microcoria: Three-Generation Family Report

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Arturo Ramirez-Miranda

2011-05-01

Full Text Available Background: Congenital microcoria (CMC is due to a maldevelopment of the dilator pupillae muscle of the iris, with a pupil diameter of less than 2 mm. It is associated with juvenile open angle glaucoma and myopia. We report on a three-generation Mexican-Mestizo family with CMC. The eldest member’s iris biopsy proved muscle anomalies. Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery. Patients and Methods: A 62-year-old woman, her 41-year-old son and her 9-year-old grandson affected with microcoria since birth, documented by clinical examination and ultrasound biomicroscopy. The eldest member underwent phacoemulsification, and a biopsy of the iris and the anterior capsule of the lens was taken. Results: Ultrasound biomicroscopy confirmed the CMC diagnosis showing iris thinning and a pupil diameter of less than 2 mm. Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule. Discussion: Although CMC is a rare disorder, which is due to a maldevelopment of the dilator pupillae muscle of the iris, it could be associated with juvenile open angle glaucoma and myopia; therefore, precise diagnosis is required. Ultrasound biomicroscopy could be a great option to confirm the disorder.

Congenital Hypothyroidism

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

3D Printing is a Transformative Technology in Congenital Heart Disease

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Shafkat Anwar, MD

2018-04-01

Full Text Available Summary: Survival in congenital heart disease has steadily improved since 1938, when Dr. Robert Gross successfully ligated for the first time a patent ductus arteriosus in a 7-year-old child. To continue the gains made over the past 80 years, transformative changes with broad impact are needed in management of congenital heart disease. Three-dimensional printing is an emerging technology that is fundamentally affecting patient care, research, trainee education, and interactions among medical teams, patients, and caregivers. This paper first reviews key clinical cases where the technology has affected patient care. It then discusses 3-dimensional printing in trainee education. Thereafter, the role of this technology in communication with multidisciplinary teams, patients, and caregivers is described. Finally, the paper reviews translational technologies on the horizon that promise to take this nascent field even further. Key Words: cardiac imaging, cardiothoracic surgery, congenital heart disease, simulation, 3D printing

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

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L. Yu. Barycheva

2015-01-01

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

Mitochondrial disorders in congenital myopathies

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D. A. Kharlamov

2014-01-01

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

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

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

2016-07-29

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

Overweight and obesity in children with congenital heart disease: combination of risks for the future?

OpenAIRE

Barbiero, Sandra Mari; D?Azevedo Sica, Caroline; Schuh, Daniela Schneid; Cesa, Claudia Ciceri; de Oliveira Petkowicz, Rosemary; Pellanda, Lucia Campos

2014-01-01

Background Children who have unhealthy lifestyles are predisposed to develop hypertension, dyslipidemia and other complications. The epidemic of obesity is also affecting children with congenital heart disease. The aim of this study is to estimate the prevalence of obesity and describe associated risk factors, including family history in children with congenital heart disease. Methods A cross-sectional study with 316 children and adolescents with congenital heart disease seen in an outpatient...

Overweight and obesity in children with congenital heart disease: combination of risks for the future?

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Barbiero, Sandra Mari; D'Azevedo Sica, Caroline; Schuh, Daniela Schneid; Cesa, Claudia Ciceri; de Oliveira Petkowicz, Rosemary; Pellanda, Lucia Campos

2014-10-16

Children who have unhealthy lifestyles are predisposed to develop hypertension, dyslipidemia and other complications. The epidemic of obesity is also affecting children with congenital heart disease. The aim of this study is to estimate the prevalence of obesity and describe associated risk factors, including family history in children with congenital heart disease. A cross-sectional study with 316 children and adolescents with congenital heart disease seen in an outpatient clinic of a reference hospital. Collected sociodemographic data included family history of chronic disease, dietary habits, laboratory tests (total cholesterol, HDL and LDL/cholesterol, triglycerides, fasting glucose, CRP, hematocrit and hemoglobin), and anthropometric assessment. Anthropometric data of the caregivers was self-reported. The prevalence of excess weight was 26.9%. Altered levels of total cholesterol were observed in 46.9%, of HDL in 32.7%, LDL in 23.6% and of triglycerides levels in 20.0%. A higher frequency of family history of obesity (42.6%; p = 0.001), dyslipidemia (48.1%; p = heart disease, it is particularly important to promote a healthy lifestyle in this group.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

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Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

2014-01-25

Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management. Copyright © 2013 Elsevier B.V. All rights reserved.

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

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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.

Metabolic mapping of the effects of the antidepressant fluoxetine on the brains of congenitally helpless rats.

Science.gov (United States)

Shumake, Jason; Colorado, Rene A; Barrett, Douglas W; Gonzalez-Lima, F

2010-07-09

Antidepressants require adaptive brain changes before efficacy is achieved, and they may impact the affectively disordered brain differently than the normal brain. We previously demonstrated metabolic disturbances in limbic and cortical regions of the congenitally helpless rat, a model of susceptibility to affective disorder, and we wished to test whether administration of fluoxetine would normalize these metabolic differences. Fluoxetine was chosen because it has become a first-line drug for the treatment of affective disorders. We hypothesized that fluoxetine antidepressant effects may be mediated by decreasing metabolism in the habenula and increasing metabolism in the ventral tegmental area. We measured the effects of fluoxetine on forced swim behavior and regional brain cytochrome oxidase activity in congenitally helpless rats treated for 2 weeks with fluoxetine (5mg/kg, i.p., daily). Fluoxetine reduced immobility in the forced swim test as anticipated, but congenitally helpless rats responded in an atypical manner, i.e., increasing climbing without affecting swimming. As hypothesized, fluoxetine reduced metabolism in the habenula and increased metabolism in the ventral tegmental area. In addition, fluoxetine reduced the metabolism of the hippocampal dentate gyrus and dorsomedial prefrontal cortex. This study provided the first detailed mapping of the regional brain effects of an antidepressant drug in congenitally helpless rats. All of the effects were consistent with previous studies that have metabolically mapped the effects of serotonergic antidepressants in the normal rat brain, and were in the predicted direction of metabolic normalization of the congenitally helpless rat for all affected brain regions except the prefrontal cortex. Copyright (c) 2010 Elsevier B.V. All rights reserved.

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

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van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

Congenital upper eyelids ectropion in Down’s syndrome

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Corredor-Osorio, Rafael

2017-02-01

Full Text Available Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down’s syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down’s syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.

"CONGENTIAL PANHYPOPITUITARISM ASSOCIATED WITH IMPAIRED LIVER FUNCTION TESTS AND CONGENITAL HEART DISEASE"

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Z. Khalili-Matinzadeh

2006-06-01

Full Text Available The term congenital hypopituitarism defines deficiency of all of the pituitary hormones. Hypoglycemia and microphallus (in males are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. We report a case of congenital panhypopituitarism with deficiency of six major hormones and association with severe hypoglycemia, impaired liver function tests and congenital heart disease.

Boston keratoprosthesis and Ahmed glaucoma valve for visual rehabilitation in congenital anterior staphyloma

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Bhaskar Srinivasan

2012-01-01

Full Text Available Congenital anterior staphyloma entails grave visual prognosis. The majority of reported patients have undergone enucleation. We report a promising result of staphylectomy with implantation of a keratoprosthesis and a glaucoma drainage device in a seven-month-old child with a large, congenital anterior staphyloma.

Cytomegalovirus Congenital Cataract

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Ridha Wahyutomo

2011-06-01

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

Miotonia congênita: relato de sete pacientes Congenital myotonia: report of seven patients

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Helga C. A. Azevedo

1996-12-01

Full Text Available Miotonia é o fenômeno da diminuição da velocidade de relaxamento muscular após contração, estímulo mecânico ou elétrico. As miotonias congênitas são afecções hereditárias e não apresentam distrofia muscular. Atualmente, a tendência é agrupá-las como doenças de canais iônicos, juntamente com as paralisias periódicas. Foram acompanhados sete pacientes, seis do sexo masculino e um do sexo feminino, com idade entre 16 e 48 anos (média 27 anos e início dos sintomas entre 1 e 10 anos (média S anos, que apresentavam fenômeno miotônico desencadeado por contração intensa e hipertrofia muscular global. Três pacientes foram diagnosticados como miotonia generalizada tipo Becker por apresentarem herança autossômica recessiva e/ou episódios transitórios de fraqueza muscular. Dois pacientes correspondiam à miotonia congênita de Thomsen, com padrão de herança autossômica dominante e/ou ausência de episódios de fraqueza ou fatores de piora. Dois pacientes apresentavam miotonia flutuante, piorando com o frio e/ou ingestão de potássio. O diagnóstico clínico foi confirmado através de exames complementares (eletroneuromiografia, biópsia muscular e estudo do DNA. Cada paciente fez uso de diferentes drogas, no sentido de procurar o máximo de melhora da miotonia. Houve cinco relatos de melhora com difenil-hidantoína, um com carbamazepina, três com acetazolamida, um com bloqueador de canal de cálcio, um com beta-adrenérgico, um com tiazídico e nenhum com quinidina/procainamida.Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis.The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27

Congenital Cytomegalovirus Infection: New Prospects for Prevention and Therapy

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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

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

Maternal obesity and congenital heart defects: a population-based study123

Science.gov (United States)

Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

2010-01-01

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P heart defects with increasing maternal obesity (P heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

Congenital upper lid eversion and severe chemosis in a new born

African Journals Online (AJOL)

2013-06-28

Jun 28, 2013 ... The purpose of this study is to report a case of bilateral congenital ... parents noticed a reddish fleshy swelling over the eyes and this made it ... Congenital upper eyelid eversion is a rare clinical entity even though it is said.

Patent abdominal subcutaneous veins caused by congenital absence of the inferior vena cava: a case report

Directory of Open Access Journals (Sweden)

Lipp Rainer W

2010-07-01

Full Text Available Abstract Introduction Patent paraumbilical and abdominal subcutaneous veins are found frequently as collaterals in patients due to portal hypertension mainly in liver cirrhosis. Case presentation For evaluation of portal hypertension in a 72-year-old Caucasian man without liver cirrhosis, magnetic resonance imaging with gadolinium contrast-enhancement was performed and demonstrated a missing inferior vena cava. A blood return from the lower extremities was shown through enlarged collateral veins of the abdominal wall, vena azygos and hemiazygos continuation, and multiple liver veins emptying into the right cardiac atrium. We describe a rare case of abdominal subcutaneous wall veins as collaterals caused by a congenitally absent infrarenal inferior vena cava with preservation of a hypoplastic suprarenal segment. Conclusion Knowledge of these congenital variations can be of clinical importance and it is imperative for the reporting radiologist to identify these anomalies as they can have a significant impact on the clinical management of the patient.

Nasal glial heterotopia or congenital hemangioma? A case report.

Science.gov (United States)

Lartizien, R; Durand, C; Blaise, S; Morand, B

2017-10-01

Nasal glial heterotopia (NGH) is a rare benign tumor of the median line. We describe the case of a child presenting a lateral nasal mass. The characteristics of the prenatal ultrasound and the postnatal clinical examination argued in favor of a congenital hemangioma (CH). The MRI performed at 6 weeks of life suggested glial heterotopia. This diagnosis was confirmed by the pathological analysis. Congenital hemangiomas and nasal glial heterotopies have similar clinical presentations. Prenatal ultrasound diagnosis between NGH and CH is difficult. Fetal MRI is not yet highly specific for these two lesions, but it can eliminate an intracerebral connection in cases of NGH. Postnatal exams are more specific. Flow on the Doppler exam is rapid for CH and slow for NGH. On MRI, these two lesions appear as a hypersignal on T2-weighted sequences, but less intense for NGH than for CH. Distinguishing between NGH and CH can be difficult. This does not have a direct incidence on treatment because it is surgical in both cases. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Memory for pitch in congenital amusia: beyond a fine-grained pitch discrimination problem.

Science.gov (United States)

Williamson, Victoria Jane; Stewart, Lauren

2010-08-01

Congenital amusia is a disorder that affects the perception and production of music. While amusia has been associated with deficits in pitch discrimination, several reports suggest that memory deficits also play a role. The present study investigated short-term memory span for pitch-based and verbal information in 14 individuals with amusia and matched controls. Analogous adaptive-tracking procedures were used to generate tone and digit spans using stimuli that exceeded psychophysically measured pitch perception thresholds. Individuals with amusia had significantly smaller tone spans, whereas their digits spans were a similar size to those of controls. An automated operation span task was used to determine working memory capacity. Working memory deficits were seen in only a small subgroup of individuals with amusia. These findings support the existence of a pitch-specific component within short-term memory and suggest that congenital amusia is more than a disorder of fine-grained pitch discrimination.

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

Disclosure of congenital cleft lip and palate to Japanese patients: reported patient experiences and relationship to self-esteem.

Science.gov (United States)

Omiya, Tomoko; Ito, Mikiko; Yamazaki, Yoshihiko

2014-12-16

The present study investigated when and how Japanese people with cleft lip and palate (CL/P) learn that their condition is congenital; the perceived effects of withholding the CL/P diagnosis on patients; and whether the resulting social experience and self-esteem are related. A questionnaire survey was conducted in 71 adults with CL/P recruited through a hospital, a patients' association, and by snowball sampling. The participants became aware of their physical difference in childhood, but many reported difficulty in understanding their condition. Participants reported that their families avoided the topic of diagnosis. Participants who understood their condition during childhood rather than in adulthood were significantly more likely to consider this scenario as positive (p self-esteem were more likely to feel that they received adequate support. It is important to explain the congenital nature of CL/P sufficiently and early. In addition, openness by the family about the diagnosis, rather than avoidance, may improve patients' self-esteem. Sufficient support from family, health care providers, and significant others is needed for patients to develop adequate self-esteem.

A fatal case of complicated congenital peritoneopericardial diaphragmatic hernia in a Holstein calf

OpenAIRE

Hicks, Keltie A.; Britton, Ann P.

2013-01-01

Congenital peritoneopericardial diaphragmatic hernia is a rare condition most commonly reported in cats and dogs. A 6-week-old Holstein heifer calf with a congenital peritoneopericardial diaphragmatic hernia complicated by a perforated abomasal ulcer is described. The clinical signs and pathological findings are compared with those reported in other species.

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

Dental findings and treatment in consanguinity associated congenital chronic familial neutropenia.

Science.gov (United States)

Buduneli, Nurcan; Cogulu, Dilsah; Kardesler, Levent; Kütükçüler, Necil

2006-01-01

The purpose of this report is to describe dental findings and treatment of an 11-year old male patient and a 5-year old female patient, children of first cousins, suffering from severe benign congenital chronic familial neutropenia. This case report emphazises the importance of differential diagnosis of immunodeficiencies including congenital chronic familial neutropenia in the background of severe periodontal diseases and/or diffuse carious lesions in children.

Congenital absence of the portal vein in a child with Turner syndrome

International Nuclear Information System (INIS)

Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

2006-01-01

Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

Congenital absence of the portal vein in a child with Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

2006-06-15

Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

Congenital intestinal lymphangiectasia

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Popović Dušan Đ.

2011-01-01

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

Congenital Abnormalities

Science.gov (United States)

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

Acute heart failure associated with congenital complete atrioventricular block due to neonatal lupus: case series report

International Nuclear Information System (INIS)

Velasquez F, Carlos J; Correa, Cindy; Molina, Monica; Fernanda, Luisa; Velasquez, Nataly; Diaz, Luis H

2010-01-01

Neonatal lupus (NL) defines a set of clinical syndromes characterized by maternal autoantibodies against the RNA protein complex (Ro/SSA or La/SSB) that cross the placenta and potentially lead to fetal tissue damage. Little is known about other cardiac manifestations of NL different from congenital heart block (CHB), as heart failure (HF). Four cases of LN with BCC and acute HF at the first three days of life on average were reported. No complications or deaths were reported at 4,9 months of follow-up. All infants had anti-Ro high titles at the time of diagnosis.

Challenges and Praxis in Assessment of Congenital Deafblindness

DEFF Research Database (Denmark)

Dammeyer, Jesper

2017-01-01

The different practices and challenges of assessment of congenital deafblindness have been discussed in the research literature and are reflected in different medical and functional approaches across the world. The aim of this study is to provide an overview of the use of both medical and functio......The different practices and challenges of assessment of congenital deafblindness have been discussed in the research literature and are reflected in different medical and functional approaches across the world. The aim of this study is to provide an overview of the use of both medical...... and functional assessment practices in a Danish sample of 95 adults with congenital deafblindness. Of the participants in this study, 54% reported regular medical assessment of vision loss, 36% reported regular medical assessment of hearing loss, and 43% reported regular functional assessment by use of video......-analysis/observation. Variability in assessment frequency was found, ranging from several times per year to less than once per year. Further, gender, age, ADL abilities, deafblind severity and counselling service were each found to be associated with differences in assessment practice. Findings are discussed and compared...

Inhibitor development after liver transplantation in congenital factor VII deficiency.

Science.gov (United States)

See, W-S Q; Chang, K-O; Cheuk, D K-L; Leung, Y-Y R; Chan, G C-F; Chan, S-C; Ha, S-Y

2016-09-01

Congenital factor VII (FVII) deficiency is the commonest type of the rare bleeding disorders. Very few cases of congenital FVII deficiency developed inhibitor and liver transplant is considered as definitive treatment. In the literature, twelve patients with congenital FVII deficiency developed inhibitors. Two had spontaneous resolution of inhibitors and one did not respond to high dose recombinant factor VIIa (rFVIIa) and died. Regarding liver transplant in congenital FVII patients, seven patients underwent liver transplant with good prognosis. We report a 5-year-old girl with confirmed severe congenital FVII deficiency since neonatal period. She suffered from recurrent intracranial bleeding despite rFVIIa replacement. After auxiliary liver transplant at the age of 4, she continued to show persistent deranged clotting profile and was found to have inhibitor towards FVII. Interestingly, she was still responsive to rFVIIa replacement. © 2016 John Wiley & Sons Ltd.

A fatal case of complicated congenital peritoneopericardial diaphragmatic hernia in a Holstein calf

Science.gov (United States)

Hicks, Keltie A.; Britton, Ann P.

2013-01-01

Congenital peritoneopericardial diaphragmatic hernia is a rare condition most commonly reported in cats and dogs. A 6-week-old Holstein heifer calf with a congenital peritoneopericardial diaphragmatic hernia complicated by a perforated abomasal ulcer is described. The clinical signs and pathological findings are compared with those reported in other species. PMID:24155464

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

DEFF Research Database (Denmark)

Witting, Nanna; Werlauff, Ulla; Duno, Morten

2016-01-01

airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted. CONCLUSIONS: Congenital myopathy caused by ACTA1 mutations is fatal in infancy in most cases. This study shows that the prevalence of α-actin myopathy in older...... patients with congenital myopathy is not negligible and that phenotypes can be quite mild....

Prenatal education for congenital toxoplasmosis.

Science.gov (United States)

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

2015-10-23

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

Skeletal changes in congenital fibrinogen abnormalities

Energy Technology Data Exchange (ETDEWEB)

Lagier, R.; Bouvier, C.A.; van Strijthem, N.

1980-01-01

We report anatomico-radiologic study of humerus, femur, and tibia from a case of total congenital afibrinogenemia. Juxtatrabecular hemorrhages occur mainly in metaphyses and seem to be related to normal lines of stress. They may lead to the formation of intraosseous cysts and to a remodelling of bone trabeculae. The radiologic lesions in a second case, diagnosed as congenital dysfibrinogenemia, are similar to those found in Case 1 (femoral trabeculae remodelling) but also resemble some alterations described in hemophilia (pseudotumor of the right iliac bone). Anatomic study of the lesions in Case 2 was not possible. The significance of these observations could be better defined by a more extended skeletal study (radiologic and when feasible anatomic) of patients with congenital clotting defects and especially with inherited disorders of the fibrinogen molecule. It would also be worthwhile investigating manifest or latent hemostatic disorders (particularly at the fibrinogen level) in patients with solitary or aneurysmal bone cysts, and even with bone infarct or unexplained trabecular remodelling.

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

Energy Technology Data Exchange (ETDEWEB)

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

2008-01-15

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

Denonvilliers' advancement flap in congenital alar rim defects correction

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Novaković Marijan

2009-01-01

Full Text Available Background. Alar rim defects are mostly acquired, resulting from burns, traumas or tumor excision. Sometimes they can accompany craniofacial clefts. However, isolated congenital alar defects are extremely rare. Case report. We presented two cases of congenital isolated alar cleft. The defect was closed by the use of an advancement flap, the technique described by Denonvilliers. We achieved both symmetry and appropriate thickness of the nostrils. Skin color and texture of the alar rim were excellent, with scars not excessively visible. Conclusion. Denonvilliers' z-plasty technique by using advancement flap provides both functionally and aesthetically satisfying outcome in patients with congenital alar rim defects.

Congenital Tracheobronchomegaly (Mounier-Kuhn Syndrome) in a Woman with Human Immunodeficiency Virus: A Case Report.

Science.gov (United States)

Fletcher, Amanda; Stowell, Justin; Jamoulis, Socrates

2017-04-04

Congenital tracheobronchomegaly (Mounier-Kuhn Syndrome, MKS) is a rare idiopathic disorder characterized by dilation of the central airways, including the trachea and first through fourth order bronchi. MKS disproportionately affects men and results in chronic respiratory tract infections. The diagnosis is made through the synthesis of clinical and radiological data. Here we report a unique case of MKS in a patient with human immunodeficiency virus (HIV) infection. A 45-year-old African American woman with a past medical history of HIV, tobacco and recreational drug abuse, chronic obstructive pulmonary disease, sleep apnea, and a 15-year history of recurrent respiratory infections presented with dyspnea, wheezing, a productive cough, increased yellow-green sputum production, and subjective fevers. Computerized tomography (CT) of the chest revealed striking dilation of the trachea and central bronchi. Fiberoptic bronchoscopy demonstrated a dilated trachea and bronchial tree with complete collapse of the trachea and bilateral mainstem bronchi during expiration. Serial imaging over 14 years allowed the radiologist to confidently diagnose her underlying disorder and recommend appropriate clinical management, which included mucolytics, chest physiotherapy, prophylactic vaccinations, and antibiotics during infectious exacerbations. To the best of our knowledge, there is only one reported case of MKS in the setting of HIV in the English literature. We report the second such case and outline the clinical presentation, diagnostic criteria, and management of MKS with the hope that increased awareness will prevent delayed or misdiagnosis for patients with MKS. This case highlights the common diagnostic delay for MKS and the need to include MKS in the differential diagnosis of recurrent respiratory tract infections.

Congenital color blindness in young Turkish men.

Science.gov (United States)

Citirik, Mehmet; Acaroglu, Golge; Batman, Cosar; Zilelioglu, Orhan

2005-04-01

We investigated a healthy population of men from different regions of Turkey for the presence of congenital red-green color blindness. Using Ishihara pseudoisochromatic plates, 941 healthy men from the Turkish army were tested for congenital red-green color blindness. The prevalence of red-green color blindness was 7.33 +/- 0.98% (5.10% protans and 2.23% deutans). These ratios were higher than other reported samples from Mediterranean Europe. Higher percentages of color blindness were found in regions with a lower education level and more consanguineous marriages.

Congenital Absence of the Internal Carotid Artery

International Nuclear Information System (INIS)

Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

1999-01-01

We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography

Digital evaluation of orbital development in chinese children with congenital microphthalmia.

Science.gov (United States)

Yang, Guang; Wang, Jing; Chang, Qinglin; Wang, Zhenchang; Geng, Yulei; Li, Dongmei

2012-09-01

To evaluate the asymmetry of bilateral orbital development in Chinese children with congenital microphthalmia and to provide a criterion for tailoring treatment timing and therapy. Retrospective cohort study. By combining multisection helical computerized tomography imaging with a computer-aided design system, we measured 38 children between 0 and 6 years of age with congenital microphthalmia and 70 normal children of the same age group. Variables were measured, including orbital volume, depth, width, and height and eyeball volume. Displacement of the orbital rims was calculated by mirroring the unaffected orbit across the midsagittal plane of body. Significant differences were observed between the orbital volume, eyeball volume, orbital width, and orbital height of the affected and unaffected sides of children with congenital microphthalmia (P development is evident primarily in the inferior and lateral rims, correlating mostly with zygomatic and then maxilla and frontal bone. The growth of the affected orbit slows down or even stagnates by 3 years of age. Intervention therapy before 3 years of age was critical. Copyright © 2012 Elsevier Inc. All rights reserved.

Prenatal diagnosis of congenital ranula: Case Report

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Aytül Çorbacıoğlu Esmer

2013-12-01

Full Text Available Congenital ranula is a mucous retention cyst which originates from the base of the oral cavity and is caused by sublingual or submandibular canal atresia or canalization defect. As with the other tumors in the oral cavity it may cause upper airway obstruction and hypoxia immediately after delivery. In the following stages of life, apart from the respiratory problems it may cause speach, chewing and swallowing disorders. The prenatal diagnosis of congenital sublingual ranula is very rare, and it presents as an avascular and anechoic cystic mass displacing the tongue upwards on fetal ultrasonography. Polyhydramnios can develop due to the obstruction and stomach may not be visualized. The differential diagnosis includes lymphatic malformations, epulis, epignatus, tyroglossal canal cyst and hemangioma. In this paper, we present a case of ranula which was diagnosed during prenatal ultrasonographic examination. The detailed fetal ultrasound scan performed at the 31th week of gestation revealed a non-septated anechoic cyst in the oral cavity measuring 20 x 17 x 15 mm. The cyst had well-defined regular borders with no solid component. Doppler ultrasonograhy did not show any vascularization within the cyst. After the delivery at the 38th week of gestation, a sublingual cystic mass with regular borders measuring 1.5 x1.5 cm was detected in the mouth of the neonate. Entubation was not required due to the absence of respiratory distress. In order to prevent difficutlies in feeding, the cystic mass was aspirated just after the delivery. A diagnosis of sublingual ranula was made based on the localization and the mucoid consistency of the cyst.

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

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Shivanand C Bubanale

2018-01-01

Full Text Available Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze. The anterior chamber, iris, lens and fundus appeared normal. Congenital lamellar ichthyosis was suspected because of scaling and excessive dryness of the entire body. The occurrence of a spontaneous subconjunctival abscess is not known in lamellar ichthyosis. We thus report the management of a rare case of unilateral upper eyelid ectropion, subconjunctival abscess with orbital cellulitis in congenital lamellar ichthyosis.

Congenital prosopagnosia: A case report

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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".

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 ...

[Congenital "kissing" lesions: Nevus or "café au lait" spot?

Science.gov (United States)

Durazzo, A; Boccara, O; Fraitag, S; Fusade, T; Picard, A; Kadlub, N

2016-12-01

"Café au lait" spots (CLS) are pigmented skin lesions principally located at the trunk and the limbs. Histologically, CLSs consist in an excessive pigmentation of the epidermis, with no risk of malignant transformation. The "kissing" nevus is a rare pigmented congenital nevus affecting both lower and upper eyelids in a mirror layout. As other nevi, it presents a theoretical risk of malignant transformation. These two pigmented lesions are responsible for aesthetic discomfort when affecting the face. Three patients presenting with a congenital pigmented lesion affecting the two eyelids in a mirror layout are presented. In two cases, the lesions, initially considered as "kissing" nevi, were classified as CLSs. The diagnosis of CLS was made on a biopsy in one patient and after surgery in the other one. Pigmented mirror layout lesions, called "kissing" lesions, are exclusively described for the nevi. We describe two cases of CLSs affecting the eyelids in a mirror layout. Difficulties in diagnostic are exposed and the possible treatments are discussed. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Uncertainty about the intensity of impending pain increases ensuing pain responses in congenital blindness

DEFF Research Database (Denmark)

Holten-Rossing, S.; Slimani, H.; Ptito, M.

2018-01-01

about the intensity of a pending painful stimulus affects pain differently in congenitally blind and sighted control subjects. We measured pain and anxiety in a group of 11 congenitally blind and 11 age- and sex-matched normal sighted control participants. Painful stimuli were delivered under two...... psychological conditions, whereby participants were either certain or uncertain about the intensity of a pending noxious stimuli. Although both blind and sighted participants had increased anxiety ratings in the uncertain condition, pain ratings increased only in the congenitally blind participants. Our data...

Congenital heart defects in children with oral clefts

Directory of Open Access Journals (Sweden)

Nahvi H.

2007-09-01

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

Three-dimensional computed tomography in the assessment of congenital scoliosis

International Nuclear Information System (INIS)

Bush, C.H.; Kalen, V.

1999-01-01

Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

Congenital Hypothyroidism and Goitre in Childhood

OpenAIRE

Davis, Albert J.; Curtis, Joseph

1990-01-01

The problems of congenital hypothyroidism and goitre are relatively common in childhood. The investigation and treatment of these disorders requires a knowledge of their various causes, appropriate investigation, and referral for specialist consultation as necessary, as well as involvement of the family physician in the monitoring of effectiveness of and compliance with treatment. Many of these disorders have life-long implications for the individual affected.

Congenital Amusia (or Tone-Deafness) Interferes with Pitch Processing in Tone Languages

OpenAIRE

Tillmann, Barbara; Burnham, Denis; Nguyen, Sebastien; Grimault, Nicolas; Gosselin, Nathalie; Peretz, Isabelle

2011-01-01

Congenital amusia is a neurogenetic disorder that affects music processing and that is ascribed to a deficit in pitch processing. We investigated whether this deficit extended to pitch processing in speech, notably the pitch changes used to contrast lexical tones in tonal languages. Congenital amusics and matched controls, all non-tonal language speakers, were tested for lexical tone discrimination in Mandarin Chinese (Experiment 1) and in Thai (Experiment 2). Tones were presented in pairs an...

Congenital generalized lipodystrophia: a case report; Lipodistrofia generalizada congenita: relato de um caso

Energy Technology Data Exchange (ETDEWEB)

Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V. [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs.

[Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].

Science.gov (United States)

Domingues, Sara; Alves Pereira, Clara; Machado, Angela; Pereira, Sandra; Machado, Leonilde; Fraga, Carla; Oliveira, Abílio; Vale, Isabel; Quelhas, Ilídio

2014-02-01

Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall hypotonia at birth and respiratory function compromise. Complications are frequent, mainly psychomotor development delay, growth failure, food difficulties and constipation. It is associated with a poor prognosis, with an overall mortality of up to 50% of severely affected children. We present five patients with congenital myotonic dystrophy in order to describe clinical manifestations, diagnosis, treatment and prognosis. Existing data in the literature on psychomotor development, complications and prognosis of survivors with congenital myotonic dystrophy are scarce. In our case studies, we have found significant chronic psychomotor limitations.

Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis

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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.

Congenital megaprepuce: a 12-year experience (52 cases) of this specific form of buried penis.

Science.gov (United States)

Rod, Julien; Desmonts, Alexis; Petit, Thierry; Ravasse, Philippe

2013-12-01

Congenital megaprepuce is a specific form of buried penis. Children affected by this malformation usually suffer from a subjective difficulty in voiding which is the main indication for early surgical correction. The aim of this study was to report a single center's 12-year experience in the treatment of megaprepuce in children, describing the surgical procedure we used to treat it and the results. We retrospectively reviewed the charts of all children who underwent congenital megaprepuce repair between January 1999 and August 2011 in our institution. Fifty-two children were operated during the study period. Our single surgical technique, not an original one, consists of fixing the penile shaft at the base of the penis, and widely reducing the inner prepuce. Four children (8%) underwent revision surgery but according to our criteria a very good result was observed in only 23 patients, and a less good but still acceptable result in 25 patients. Our 12-year experience in the surgical treatment of congenital megaprepuce demonstrated satisfying results from a safe and simple surgical technique, but to achieve the optimum result remains difficult. Copyright © 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

Science.gov (United States)

Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

2009-11-01

To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

Congenital anomalies of the pulmonary arteries: spectrum of findings on computed tomography.

Science.gov (United States)

Bueno, J; Flors, L; Mejía, M

Congenital anomalies of the pulmonary arteries are uncommon. They can occur in isolation or in association with congenital heart defects. Isolated congenital anomalies remain undiscovered until they are reported as incidental findings on imaging tests, usually not until adolescence. We review the embryological development and normal anatomy of the pulmonary arteries as well as the spectrum of computed tomography findings for various congenital anomalies: unilateral interruption of the pulmonary artery, anomalous origin of the left pulmonary artery (pulmonary artery sling), idiopathic aneurysm of the pulmonary artery, and other anomalies associated with congenital heart defects. Congenital anomalies of the pulmonary arteries represent a diagnostic challenge for clinicians and radiologists. Computed tomography is useful for their diagnosis, and general radiologists need to be familiar with their imaging appearance because they are often discovered incidentally. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism

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Olivieri Antonella

2009-02-01

Full Text Available Abstract All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country. The aim of the Register is to monitor efficiency and effectiveness of neonatal screening, to provide disease surveillance and to allow identification of possible aetiological risk factors for the disease. During the past twenty years the active and continuous collaboration between the Register and the Italian Screening and Follow up Centres for Congenital Hypothyroidism allowed to perform a standardization of screening procedures and considerable improvements in the time at starting treatment and in the dose of therapy. Furthermore, the large amount and the high quality of information collected in the Register provided a unique opportunity for research into the disease. This because data collected in the Register are highly representative as referred to the entire Italian population with congenital hypothyroidism. The results derived from the epidemiological studies performed in these years, by using the Register database, contributed to deepen the knowledge of congenital hypothyroidism, to start identifying the most important risk factors for the disease, and to orient molecular studies aimed at identifying new genes involved in the aetiology of this condition.

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

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Seyedeh Zeynab Miraghaei

2017-10-01

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

Agenesis of internal carotid artery associated with congenital anterior hypopituitarism

International Nuclear Information System (INIS)

Moon, W.-J.; Porto, L.; Lanfermann, H.; Zanella, F.E.; Weis, R.

2002-01-01

We report a rare case of unilateral agenesis of the internal carotid artery in association with congenital anterior hypopituitarism. The collateral circulation is supplied by a transsellar intercavernous anastomotic vessel connecting the internal carotid arteries. These abnormalities are well depicted on MRI and MRA. The agenesis of the internal carotid artery may explain the pathogenesis of some of congenital anterior hypopituitarism. (orig.)

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)

Primary congenital abdominal aortic aneurysm: a case report with perinatal serial follow-up imaging

Energy Technology Data Exchange (ETDEWEB)

Kim, Jung Im; Lee, Whal; Chung, Jin Wook; Park, Jae Hyung [Seoul National University College of Medicine, Seoul National University Hospital, Department of Radiology, Seoul (Korea); Kim, Sang Joon [Seoul National University College of Medicine, Seoul National University Hospital, Department of Surgery, Seoul (Korea); Seo, Jeong-Wook [Seoul National University College of Medicine, Seoul National University Hospital, Department of Pathology, Seoul (Korea)

2008-11-15

Abdominal aortic aneurysms in neonates and infants are rare and are usually associated with infection, vasculitis, connective tissue disorder, or iatrogenic trauma such as umbilical catheterization. An idiopathic congenital abdominal aortic aneurysm is the least common category and there are few descriptions of the imaging features. We present the antenatal and postnatal imaging findings of an idiopathic congenital abdominal aortic aneurysm including the findings on US, MRI and CT. (orig.)

Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease - International Study (APPROACH-IS): rationale, design, and methods

NARCIS (Netherlands)

Apers, Silke; Kovacs, Adrienne H.; Luyckx, Koen; Alday, Luis; Berghammer, Malin; Budts, Werner; Callus, Edward; Caruana, Maryanne; Chidambarathanu, Shanthi; Cook, Stephen C.; Dellborg, Mikael; Enomoto, Junko; Eriksen, Katrine; Fernandes, Susan M.; Jackson, Jamie L.; Johansson, Bengt; Khairy, Paul; Kutty, Shelby; Menahem, Samuel; Rempel, Gwen; Sluman, Maayke A.; Soufi, Alexandra; Thomet, Corina; Veldtman, Gruschen; Wang, Jou-Kou; White, Kamila; Moons, Philip; Maisuls, Héctor; Cabrera, Marcelo; Eaton, Sarah; Larion, Ruth; FengWang, Qi; van Deyk, Kristien; Goossens, Eva; Rassart, Jessica; Mackie, Andrew; Ballantyne, Ross; Rankin, Kathryn; Norris, Colleen; Taylor, Dylan; Vondermuhll, Isabelle; Windram, Jonathan; Heggie, Pamela; Lasiuk, Gerri; Proietti, Anna; Dore, Annie; Mercier, Lise-Andrée; Mongeon, François-Pierre; Marcotte, François; Mulder, Barbara

2015-01-01

Data on patient-reported outcomes (PROs) in adults with congenital heart disease (CHD) are inconsistent and vary across the world. Better understanding of PROs and their differences across cultural and geographic barriers can best be accomplished via international studies using uniform research

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

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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.

Congenital unilateral hydrocephalus - CT findings

International Nuclear Information System (INIS)

Schulman, H.; Landau, D.; Schulman, P.; Hertzanu, Y.

2000-01-01

Congenital unilateral hydrocephalus is extremely uncommon with 18 cases previously reported in the English literature. Two additional newborns with unilateral hydrocephalus are presented. The second baby also presented a mega cisterna magna. This unusual association between Dandy-Walker variant and unilateral hydrocephalus has not been previously reported. Following ventriculo-peritoneal shunt, the babies had a normal cognitive neurodevelopment. The role of cranial computed tomography (CT) in diagnosis and follow-up is emphasized

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

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Vukašinović Zoran

2014-01-01

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

Key aspects congenital infection

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Yu. V. Lobzin

2014-01-01

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

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

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Al Hadhoud F

2017-09-01

Full Text Available Fatemah Al Hadhoud,1 Abeer H Kamal,1 Abdulmohsen Al Anjari,1 Michael FE Diejomaoh1,2 1Department of Obstetrics and Gynecology, Maternity Hospital, 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait Background: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion: A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results

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.

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

Neural bases of congenital amusia in tonal language speakers.

Science.gov (United States)

Zhang, Caicai; Peng, Gang; Shao, Jing; Wang, William S-Y

2017-03-01

Congenital amusia is a lifelong neurodevelopmental disorder of fine-grained pitch processing. In this fMRI study, we examined the neural bases of congenial amusia in speakers of a tonal language - Cantonese. Previous studies on non-tonal language speakers suggest that the neural deficits of congenital amusia lie in the music-selective neural circuitry in the right inferior frontal gyrus (IFG). However, it is unclear whether this finding can generalize to congenital amusics in tonal languages. Tonal language experience has been reported to shape the neural processing of pitch, which raises the question of how tonal language experience affects the neural bases of congenital amusia. To investigate this question, we examined the neural circuitries sub-serving the processing of relative pitch interval in pitch-matched Cantonese level tone and musical stimuli in 11 Cantonese-speaking amusics and 11 musically intact controls. Cantonese-speaking amusics exhibited abnormal brain activities in a widely distributed neural network during the processing of lexical tone and musical stimuli. Whereas the controls exhibited significant activation in the right superior temporal gyrus (STG) in the lexical tone condition and in the cerebellum regardless of the lexical tone and music conditions, no activation was found in the amusics in those regions, which likely reflects a dysfunctional neural mechanism of relative pitch processing in the amusics. Furthermore, the amusics showed abnormally strong activation of the right middle frontal gyrus and precuneus when the pitch stimuli were repeated, which presumably reflect deficits of attending to repeated pitch stimuli or encoding them into working memory. No significant group difference was found in the right IFG in either the whole-brain analysis or region-of-interest analysis. These findings imply that the neural deficits in tonal language speakers might differ from those in non-tonal language speakers, and overlap partly with the

Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature.

Science.gov (United States)

Vanathi, M; Sen, Seema; Panda, Anita; Dada, Tanuj; Behera, Geeta; Khokhar, Sudharshan

2007-01-01

To report the unusual association of unilateral congenital corneal keloid with anterior-segment mesenchymal dysgenesis and bilateral subluxated lens. A 20-year old man presented with a mass lesion involving the left cornea. The corneal lesion had been present since birth. On biomicroscopic examination, a well-defined vascularized, grayish-white mass occupying the whole of the left cornea was seen. The right eye showed multiple peripheral corneal opacities with iridocorneal adhesions, a poorly defined supranasal limbus, and a subluxated lens. Excision biopsy of the mass was done for histopathologic examination. Histopathologic examination of the excised corneal mass showed features consistent with that of a corneal keloid: thickened keratinized epithelium, absent Bowman membrane layer, and fibrovascular hyperplasia composed of hyalinized collagen fibers with irregular orientation of the collagen lamellae. During penetrating keratoplasty of the left eye, an anomalous iris pattern with poorly defined angle and a supranasal subluxated lens was also observed. Extraction of the subluxated lens was also done. The graft failed subsequent to a nonhealing persistent epithelial defect. Our case report highlights the rare association of a unilateral congenital corneal keloid with anterior-segment mesenchymal dysgenesis and bilateral subluxated lens.

[Epidemiological analysis of selected congenital limb malformations in Hengyang].

Science.gov (United States)

Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

2013-07-01

To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

Congenital symmastia revisited

DEFF Research Database (Denmark)

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

2012-01-01

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

Management of congenital talipes equinovarus by the ponseti method - short-term and intermediate effectiveness of the technique and factors affecting outcome

International Nuclear Information System (INIS)

Rehman, H.U.; Zaidi, S.H.; Rehman, J.U.; Fraz, M.O.; Aslam, M.; Safdar, C.A.

2016-01-01

Objective: To evaluate the effectiveness of the Ponseti method of clubfoot management in neonates and infants and to see which factors affect outcome. Study Design: Retrospective study. Place and Duration of Study: Department of Paediatric surgery, Military Hospital, Rawalpindi, from October 2012 to September 2014. Material and Methods: The Ponseti method for the management of congenital talipes equinovarus was applied in children of 7 days to 6 months age. While those with complex neurological problems, pathological clubfeet, syndromic clubfeet and older than 6 months at the time of presentation were excluded from the study. Assessment was done at presentation, at the removal of the last plaster cast and after one-year use of the foot abduction splint. Results: A total of 124 clubfeet of 89 children, including 63 males (70.78 percent) and 26 females (43.82 percent) were treated as outdoor cases. Eighteen feet (14.51 percent) were of rigid (atypical) type whilst 106 (85.5 percent) were of flexible (typical) type. Bilateral involvement was seen in 35(37.31 percent) children. The mean pretreatment Pirani score was 5.4 and the mean number of plaster casts required was 5.8. The mean Pirani score at 1-year follow-up was 0.5 with successful outcome in 82.3 percent of all cases (96.9 percent of neonates). Poor compliance with the use of the foot abduction splint adversely affected outcomes. Conclusion: The Ponseti method of treatment of congenital clubfeet is safe and easy to learn with effective and reproducible results. Early start of treatment and compliance with the use of the foot abduction splint during the maintenance phase are crucial to successful outcome. (author)

Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula

International Nuclear Information System (INIS)

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

2007-01-01

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

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.)

Congenital or torsion-induced absence of Fallopian tubes. Two case reports.

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Paternoster, D M; Costantini, W; Uglietti, A; Vasile, C; Bocconi, L

1998-05-01

Unilateral absence of a uterine tube is an extremely rare finding, for which there are two possible etiopathogenic causes: in some cases it is due to haemorrhage filling of the cavity and its reabsorption as a result of asymptomatic torsion of the uterine tube during adult life, in pediatric age or even during intrauterine life; alternatively, the absence may be congenital, associated with developmental alterations of the mesonephric and paramesonephric ducts. The article presents two cases of fallopian tube absence: a congenital monolateral absence and a tubal torsion during pregnancy. The symptomatology of the torsion of the fallopian tube in pregnancy can be milder than in the classic description with peritoneal reaction and severe clinical alteration. The main risk factors for tubal torsion are: adhesions and inflammatory processes, ovarian cysts, usually of dermoid type, menstrual period, pregnancy, abnormal long mesosalpinx and/or mesovarium, pelvic congestion induced by constipation and disturbed venous blood flow from the adnexa. A congenital defect of the mesonephric duct is followed by a homolateral defect of the paramesonephric duct. The resulting anomaly is characterized by the absence of the uterine tube, uterus-tube angle, kidney and ureter. Partial or total unilateral defects of a paramesonephric duct are more common than aplasia of both ducts. Some authors have suggested that an inadequate blood supply during the descent into the pelvis of the caudal part of the paramesonephric duct might feasibly lead to incomplete tube development.

Congenital Pseudoarthrosis of Medial Malleolus in A Young Soccer Player – Diagnosis in Clinical setting of Ankle Sprain

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Giuliano Cerulli

2014-01-01

Full Text Available Introduction: We report a case of a young female soccer player affected by congenital medial bilateral malleolus pseudoarthrosis and os subfibulare. Congenital pseudoarthrosis is the failure of the bones to fuse prior or at birth. The etiology is still unknown, although frequency is high in subjects affected by neurofibromatosis or correlated syndromes, so it has been suggested that these congenital disorders may be the cause of congenital pseudoarthrosis. Case Report: Our patient, a 16-year-old female, high level soccer player, was referred to us following a right ankle sprain during a match. She reported no medical history of tibia-tarsus joint injuries or disease. Pain, swelling and functional impairment were noted immediately after the accident. Standard radiographs in the emergency department revealed a displaced fracture of the medial malleolus and the presence of os subfibularis. The patient was transferred to our Traumatology and Orthopaedic Department to undergo malleolus ostheosynthesis. Before surgery swelling, functional impairment and intense pain at the medial malleolus level were confirmed. However, there was no radiological opening of ankle, instability or pronation pain; furthermore the flexion-extension was preserved with slight pain. Twenty-four hours later a considerable remission of symptoms was evident with increased range of motion and reduction in the swelling and post-traumatic edema. A radiograph on the left ankle to compare with that of the right ankle was necessary to overcome the discrepancy between the radiological diagnosis and the clinical examination. The radiographic results of both medial malleoli were comparable although on the left the os subfibularis was absent. Since the diagnosis of fracture by the association between the radiographs and the symptomatology was doubtful, a bilateral CT was performed. The scan revealed a medial bilateral malleolus pseudoarthrosis and an accessory right subfibularis nucleus

Recent Advances in Central Congenital Hypothyroidism

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Schoenmakers, Nadia Adham; Alatzoglou, Kyriaki S; Chatterjee, Vengalil Krishna; Dattani, Mehul T

2015-01-01

Central Congenital Hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated ne...

Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors

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Alessandra eZulian

2014-11-01

Full Text Available Ullrich congenital muscular dystrophy and Bethlem myopathy are caused by mutations in collagen VI genes, which encode an extracellular matrix protein; yet mitochondria play a major role in disease pathogenesis through a short circuit caused by inappropriate opening of the permeability transition pore, a high conductance channel which causes a shortage in ATP production. We find that melanocytes do not produce collagen VI yet they bind it at the cell surface, suggesting that this protein may play a trophic role and that its absence may cause lesions similar to those seen in skeletal muscle. We show that mitochondria in melanocytes of Ullrich congenital muscular dystrophy and Bethlem myooathy patients display increased size, reduced matrix density and disrupted cristae, findings that suggest a functional impairment. In keeping with this hypothesis, mitochondria (i underwent anomalous depolarization after inhibition of the F-ATP synthase with oligomycin, and (ii displayed decreased respiratory reserve capacity. The non-immunosuppressive cyclophilin inhibitor NIM811 prevented mitochondrial depolarization in response to oligomycin in melanocytes from both Ullrich congenital muscular dystrophy and Bethlem myopathy patients, and partially restored the respiratory reserve of melanocytes from one Bethlem myopathy patient. These results match our recent findings on melanocytes from patients affected by Duchenne muscular dystrophy (Pellegrini et al., 2013 Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol 228, 1323-1331, and suggest that skin biopsies may represent a minimally invasive tool to investigate mitochondrial dysfunction and to evaluate drug efficacy in collagen VI-related myopathies and possibly in other muscle wasting conditions like aging sarcopenia.

Intrauterine demise due to congenital mesoblastic nephroma in a fetus conceived by assisted reproductive technology.

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De Paepe, Monique E; Shapiro, Svetlana; Young, Lawrence; Carr, Stephen R; Gundogan, Fusun

2011-03-01

To report a case of antenatally diagnosed congenital mesoblastic nephroma in an assisted reproductive technology (ART) conception. Case report. Tertiary care university-affiliated hospital. Fetus of 26-weeks' gestation with antenatally diagnosed large abdominal tumor. ART with transfer of cryopreserved embryo. Postmortem examination. Examination revealed a congenital mesoblastic nephroma, mixed classic and cellular type, with marked intratumoral hemorrhage and associated hydrops. The marked fetal erythroblastosis was suggestive of fetal response to pronounced anemia. Intrauterine demise is attributed to fetal intratumoral hemorrhage and early nonimmune hydrops secondary to a large congenital mesoblastic nephroma. This is the third reported case of congenital mesoblastic nephroma in an ART conception. Whether the association between mesoblastic nephroma and ART is coincidental or causative remains to be determined. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Vasopressin in perioperative management of congenital ...

African Journals Online (AJOL)

Perioperative care of infants with diaphragmatic hernias can be a challenge because of pulmonary hypertension and systemic hypotension. The objective of this study was to report the usefulness of vasopressin infusion in improving pulmonary and systemic haemodynamics in an infant with congenital diaphragmatic hernia.

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

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Granados-Riveron, Javier T; Ghosh, Tushar K; Pope, Mark; Bu'Lock, Frances; Thornborough, Christopher; Eason, Jacqueline; Kirk, Edwin P; Fatkin, Diane; Feneley, Michael P; Harvey, Richard P; Armour, John A L; David Brook, J

2010-10-15

Congenital heart defects (CHD) are collectively the most common form of congenital malformation. Studies of human cases and animal models have revealed that mutations in several genes are responsible for both familial and sporadic forms of CHD. We have previously shown that a mutation in MYH6 can cause an autosomal dominant form of atrial septal defect (ASD), whereas others have identified mutations of the same gene in patients with hypertrophic and dilated cardiomyopathy. In the present study, we report a mutation analysis of MYH6 in patients with a wide spectrum of sporadic CHD. The mutation analysis of MYH6 was performed in DNA samples from 470 cases of isolated CHD using denaturing high-performance liquid chromatography and sequence analysis to detect point mutations and small deletions or insertions, and multiplex amplifiable probe hybridization to detect partial or complete copy number variations. One non-sense mutation, one splicing site mutation and seven non-synonymous coding mutations were identified. Transfection of plasmids encoding mutant and non-mutant green fluorescent protein-MYH6 fusion proteins in mouse myoblasts revealed that the mutations A230P and A1366D significantly disrupt myofibril formation, whereas the H252Q mutation significantly enhances myofibril assembly in comparison with the non-mutant protein. Our data indicate that functional variants of MYH6 are associated with cardiac malformations in addition to ASD and provide a novel potential mechanism. Such phenotypic heterogeneity has been observed in other genes mutated in CHD.

Congenital heart disease

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

Genetics Home Reference: congenital hypothyroidism

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

[Neonatal tumours and congenital malformations].

Science.gov (United States)

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

2008-06-01

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

Congenital 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

Congenital toxoplasmosis transmitted by human immunodeficiency-virus infected women

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Kátia Martins Lopes de Azevedo

Full Text Available We report the occurrence of congenital toxoplasmosis in three infants born to HIV infected women who had high anti-toxoplasma IgG and negative IgM during pregnancy. We briefly reviewed available literature and discussed the possible transmission mechanisms of congenital toxoplasmosis among HIV infected pregnant women. Serum samples were tested for Toxoplasma gondii IgM and IgG antibodies using commercial enzyme immunoassay and IgG-avidity tests. In the first case, fetal death occurred at 28th week of gestation. In the second case, congenital toxoplasmosis was diagnosis at 6th month of life; and in the third case, an HIV-infected newborn, congenital toxoplasmosis was asymptomatic. These cases point out to the possibility of enhanced maternal-fetal transmission of T. gondii infection by HIV-infected women chronically infected, which may have important public health consequences, considering that increasing frequency of HIV-infection has been observed among women of childbearing age around the world.

Congenital lumbar vertebrae agenesis in a lamb.

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Farajli Abbasi, Mohammad; Shojaei, Bahador; Azari, Omid

2017-01-01

Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopically in the abdominal and thoracic regions as well as vertebral column. Partial absence of vertebral column has been reported in human and different animal species, as an independent occurrence or associated with other organs anomalies. The latter has been designated as caudal regression syndrome. Vertebral agenesis may arise from irregularity in the differentiation of somites to the sclerotome or sclerotome to the vertebral primordium. Most of the previously reported cases of agenesis were related to the lumbosacral region, lonely or along with other visceral absences. This case was the first report of congenital agenesis of lumbar vertebrae in a lamb.

Accessory mammary tissue associated with congenital and hereditary nephrourinary malformations.

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Urbani, C E; Betti, R

1996-05-01

The association between polythelia (supernumerary nipple) and kidney and urinary tract malformations (KUTM) is controversial. Some authors reported this association in newborns and infants. Case-control studies dealing with adult subjects are not found in the literature. The purpose of this study is to determine the frequency of the association between accessory mammary tissue (AMT) and congenital and hereditary nephrourinary defects in an adult population compared to a control group. The study was performed in 146 white patients (123 men, 23 women) with AMT out of 2645 subjects consecutively referred to us for physical examination. The following investigations were undertaken: ultrasonographic examination of the abdomen and the kidneys, ECG, echocardiogram, roentgenogram of the vertebral column, urinalysis, and other laboratory tests. A sex- and age-matched control group without any evidence of AMT or lateral displacement of the nipples underwent the same examinations. Kidney and urinary tract malformations were detected in 11 patients with AMT (nine men, two women) and in one control. These data indicate a significantly higher frequency of KUTM in the AMT-affected patients compared to controls (7.53% vs. 0.68%, P < 0.001). A broad spectrum of KUTM was discovered in association with AMT: adult dominant polycystic kidney disease, unilateral renal agenesis, cystic renal dysplasia, familial renal cysts, and congenital stenosis of the pyeloureteral joint. Accessory mammary tissue offers an important clue for congenital and hereditary anomalies of the kidneys and urinary collecting systems. Patients with AMT should, therefore, be extensively examined for the presence of occult nephrouropathies.

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

Giant unusual shaped chronic subdural hematoma in a patient with untreated congenital hydrocephalus

OpenAIRE

Mishra, Arvind; Ojha, Bal. K.; Chandra, Anil; Srivastava, Chhitij; Singh, Sunil Kumar

2011-01-01

Subdural hematoma is a well known complication of ventriculoperitoneal shunt insertion for hydrocephalus and usually spreads out over the cerebral convexity, and appears as a crescent shaped lesion on imaging. Chronic subdural hematoma in a case of untreated compensated congenital hydrocephalus has not been reported in English literature. We report the rare case of an adult with congenital hydrocephalus with a huge unusual shaped hemispheric subdural hematoma.

Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.

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Graham, J M; Phelps, P D; Michaels, L

2000-01-01

The objective of this review is to analyze aspects of congenital malformation of the ear in relation to cochlear implantation in children. Having briefly described the in utero development of the ear and the classification of types of external, middle and inner ear malformation, five practical aspects of these malformations are discussed. It seems likely that the combination of bilateral profound sensorineural deafness with bilateral microtia severe enough to make a surgical approach to the cochlea difficult will be extremely uncommon. No such cases have been reported, although Klippel-Feil deformity seems the syndrome most likely to produce this set of circumstances. Abnormalities in the intratympanic course of the facial nerve have been associated with cochlear malformation, emphasizing the benefit of intra-operative facial nerve monitoring, and a technique suggested for safely avoiding an abnormally placed nerve. Fistulae of cerebrospinal fluid (CSF) and perilymph can complicate surgery and are relatively common in common cavity and Mondini malformations. Strategies for facilitating surgery in the presence of 'gushers', for measuring the pressure of a gusher and for placement of the cochlear implant electrode array are reviewed, with reports of fluctuating levels of electric current when implants lie in dysplastic cochleas. The relationship of implant performance to VIIIth nerve tissue in malformed cochleas is discussed, with a description of the histological findings in a common cavity cochlea. Techniques for identifying the absence of the cochlear nerve are reviewed. Stimulation of the facial nerve by cochlear implants has been described in cases of congenital malformation of the labyrinth but is relatively uncommon. Case reports of the benefit received by implanted children with congenital cochlear malformation have appeared since 1988. Most cases reported have not yet been followed for long enough to establish a clear picture of the outcome following

Congenital bronchobiliary fistula: MRI appearance

International Nuclear Information System (INIS)

Hourigan, Jon S.; Carr, Michael G.; Burton, Edward M.; Ledbetter, Joel C.

2004-01-01

Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences. (orig.)

Congenital fibrosarcoma of the chest wall: Report of a case

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Shilpi Singh Gupta

2010-01-01

Full Text Available Congenital fibrosarcoma (CFS is a rare soft tissue tumour that usually occurs before the age of 1, and involves the distal extremities. The literature regarding the precise diagnosis and treatment of these tumours is limited. We present and discuss a case of CFS which ended fatally due to lung metastasis after 2 years.

The clinical and radiological observation of congenital syphilis

International Nuclear Information System (INIS)

Nah, Byung Sik; Chung, Ung Ki

1983-01-01

Congenital syphilis is transmitted through the placenta by the infected mother after 16 weeks of gestation. Since the incidence of syphilis is again on the increase, syphilis remains at the present time a public problem of major and increasing proportions. Recently, congenital syphilis has different formas of presentation. The authors observed clinically and radiologically 27 cases of congenital syphilis in the neonates and infants treated at the pediatric ward of Chonnam National University Hospital from Jan. 1977 to Mar. 1982. The results are as follows: 1. The number of observed patients was 27 cases, 22 cases in male, 5 cases in female. 2. Onset of first clinical symptoms and signs was within the 4th week life in 14 cases (52%), 1-2 months in 6 cases (22%), 2-3 months in 4 cases (15%), 3-4 months in 3 cases (11%). All cases was within 6 months. 3. The order of the frequency of common clinical manifestations was hepatomegaly (96%), splenomegaly (78%), skin lesion (63%), anemia (63%), nasal snuffle (56%). 4. Of 11 cases with known birth weight, 10 cases were low birth weight. 5. The serologic test (VDRL slide test) of 27 tested caes revealed reactive response in 26 cases, non-reactive response in 1 case, and that of syphilitic mothers except one revealed reactive in 23 cases, non- reactive in 3 cases. 6. Roentgenographic syphilitic bony changes were detected in 26 cases (96%), of 27 studied cases, osteochondritis was present in 24 cases (89%), periostitis in 21 case (78%), osteomyelitis in 11 cases (41%). 7. The most common sites affected were as follows. Radius and ulna were the most frequently affected, the next were in order of tibia and fibula. Considering osteochondiritis only, the distal end of radius and ulna (78% respectively) and proximal end of tibra (67%) were the most frequently affected sites, the proximal end of femur (33%) was least frequently affected site. 8. On chest films of 27 case, osseous changes (mainly periostitis) of clavicle were noted

Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

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Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

2018-02-27

It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

Congenital amusia: a group study of adults afflicted with a music-specific disorder.

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Ayotte, Julie; Peretz, Isabelle; Hyde, Krista

2002-02-01

The condition of congenital amusia, commonly known as tone-deafness, has been described for more than a century, but has received little empirical attention. In the present study, a research effort has been made to document in detail the behavioural manifestations of congenital amusia. A group of 11 adults, fitting stringent criteria of musical disabilities, were examined in a series of tests originally designed to assess the presence and specificity of musical disorders in brain-damaged patients. The results show that congenital amusia is related to severe deficiencies in processing pitch variations. The deficit extends to impairments in music memory and recognition as well as in singing and the ability to tap in time to music. Interestingly, the disorder appears specific to the musical domain. Congenital amusical individuals process and recognize speech, including speech prosody, common environmental sounds and human voices, as well as control subjects. Thus, the present study convincingly demonstrates the existence of congenital amusia as a new class of learning disabilities that affect musical abilities.

Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait.

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Vite, C H; Melniczek, J; Patterson, D; Giger, U

1999-01-01

Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. A series of related miniature schnauzer dogs with congenital myotonic myopathy were studied. A composite pedigree of six affected litters and the results of a planned breeding between two affected animals are consistent with an autosomal recessive mode of inheritance.

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.

Recent advances in central congenital hypothyroidism

OpenAIRE

Schoenmakers, Nadia; Alatzoglou, Kyriaki S; Chatterjee, V Krishna; Dattani, Mehul T

2015-01-01

Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16?000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated n...

Congenital depressed skull fracture in the absence of trauma: case report and literature review

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Tovar-Spinoza ZS

2012-02-01

Full Text Available Zulma S Tovar-Spinoza, Peter D KimDepartment of Neurosurgery, SUNY Upstate Medical University, Syracuse NYAbstract: There are limited reports of neonatal depressed skull fractures in the absence of any known trauma or obvious risk factors. Here we describe a male neonate with a significant frontal nontraumatic depressed fracture, his course of treatment, and a literature review. A male neonate was attended for a significant congenital depressed skull fracture in the left frontal bone. He was born full term after an uncomplicated delivery to a multiparous mother who was a human immunodeficiency syndrome (HIV-positive immigrant from sub-Saharan Africa. The pregnancy was otherwise uncomplicated. There was no history of trauma to the mother during the pregnancy or delivery. Ultrasonography had been unremarkable. No other abnormalities were noted. The patient was brought to the operating room at the age of 13 days for elevation of his fracture due to its nonreducible nature. A small linear incision was made just posterior to the coronal suture. The dura mater was stripped and a combination of Penfield and periostial elevators was used to elevate the depressed fracture. Nontraumatic depressed skull fractures are uncommon in neonates. The cause of this entity has not been identified, and many theories about its origin have been proposed. Treatment can be either surgical or conservative.Keywords: neonatal, congenital, depressed fracture, spontaneous, nontraumatic

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

Science.gov (United States)

2013-02-04

.... People with non- mosaic Down syndrome may also have congenital heart disease, impaired vision, hearing..., or interference, as well as the resulting functional limitations and their progression, may vary... senses and speech, neurological, or mental disorders. Otherwise, we evaluate the specific functional...

Congenital cytomegalovirus infection

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Katarina Rednak-Paradiž

2006-11-01

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

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

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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.

Epidemiology of Congenital Anomalies in a Population-based Birth Registry in Taiwan, 2002

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Bing-Yu Chen

2009-06-01

Conclusion: The occurrence rates for individual congenital anomalies in Taiwan were reported. Older maternal age was a risk factor for the occurrence of chromosomal and orofacial anomalies. More active prenatal screening and further investigation of causal factors of congenital anomalies are of major importance.

Congenital superior sternal cleft repair using our modified Sally technique: A case report

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Tomoyuki Kuwata

2014-12-01

Full Text Available We report the case of an 8-month-old male neonate who underwent reconstructive surgery for a congenital superior sternal cleft to decrease the risk of commotio cordis. With regard to use of the Sally technique for the repair of a relatively wide cleft (4 × 4 cm, we were concerned about respiratory problems caused by compression following closure of the sternal halves. By closing the sternal halves imperfectly, elevation of intrapleural pressure can be avoided to some extent. By bridging the surplus resected cartilage from the lower sternum over the gap of the upper sternum, the heart is protected by more rigid material. We recommend our modified Sally technique because it is both flexible and effective for sternal cleft repair.

Horseshoe lung with multiple congenital anomalies. Case report and review of the literature

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Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed.

Congenital posterior urethroperineal fistula: a review and report of the 25th case in literature.

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Bello, Jibril Oyekunle

2014-12-01

Duplications of the urethra are rare, but the congenital posterior urethroperineal fistula (CUPF) is an even rarer anomaly. CUPF resembles type II A2, Y-duplication described by Effmann but differs significantly because it has a normal functional dorsal urethra and a ventral hypoplastic accessory urethra. Excision or fulguration of the accessory urethra results in the resolution of patient's symptoms. The 25th case in English literature is reported with a review of literature; the addition of CUPF to Effmann classification as "type II A2, Y-hypoplastic ventral urethra" is proposed. Copyright © 2014 Elsevier Inc. All rights reserved.

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

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

2014-01-01

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

Congenital Heart Defects and CCHD

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

Aerobic Training in Patients with Congenital Myopathy

DEFF Research Database (Denmark)

Hedermann, Gitte; Vissing, Christoffer Rasmus; Jensen, Karen

2016-01-01

INTRODUCTION: Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. METHODS: Patients exercised on a stationary bike for 30......: The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066....

Congenital Midureteric Stricture

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Singh Shalinder

2001-01-01

Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

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

Science.gov (United States)

2011-10-25

... term ``extreme'' in our rules for determining functional equivalence for children.\\5\\ \\5\\ See 20 CFR... may also have congenital heart disease, impaired vision, hearing problems, and other disorders. We... like them, the degree of deviation, interruption, or interference, as well as the resulting functional...

Management of congenital bladder diverticulum in children: A report of seven cases.

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Khemakhem, Rachid; Ghorbel, Sofiane; Jlidi, Said; Nouira, Faouzi; Louati, Héla; Douira, Wiem; Chennoufi, Faouzia; Bellagha, Ibtisem; Chaouachi, Béji

2013-01-01

The purpose of the study is to present the author's experience with congenital bladder diverticula in seven pediatric patients at a developing world tertiary care center. Records of seven patients diagnosed and treated as congenital bladder diverticulum, from January 1998 to December 2009 were retrospectively reviewed for age, sex, clinical symptoms, investigative work-up, operative notes, and postoperative follow-up. All patients were males. Age at presentation ranged from six months to six years (mean three years and six months). All were manifested postnatally by urinary tract infection in four cases, bladder retention in three cases and abdominal pain in two cases. Diagnosis was suggested by ultrasound and confirmed by voiding cystourethrography (VCUG) in all cases and urethrocystoscopy in three cases. Open surgical excision of diverticulum was done in all the patients associated with ureteral reimplantation in four patients with VCUG-documented high-grade vesicoureteral reflux (VUR). Average follow-up was four years; there is a resolution of symptoms and no diverticulum recurrence at the defined mean follow-up. Recurrent urinary tract infections and voiding dysfunction in pediatric population should always be evaluated for congenital bladder diverticulum. Investigations such as abdominal ultrasound, VCUG and nuclear renal scanning, form an important part of preoperative diagnostic work-up and postoperative follow up. Diverticulectomy with ureteral reimplantation in case of high-grade reflux, provides good results without recurrence.

Presentación de un caso de hemidisplasia congénita con ictiosis eritrodérmica Report of a congenital hemidysplasia with erythrodermic ichthyosis

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Andrés A. Morilla Guzmán

2008-09-01

Full Text Available La hemidisplasia congénita con ictiosis y defectos de las extremidades es una enfermedad infrecuente, hereditaria, monogénica, que se transmite como un rasgo dominante ligado al cromosoma X. Se presenta el caso de una paciente con este diagnóstico clínico neonatal, que presentaba eritrodermia ictiosiforme en el hemicuerpo derecho, acompañada de hipomelia del miembro superior e inferior derechos, defectos óseos en miembros afectados y columna vertebral, agenesia renal unilateral, cardiopatía congénita de tipo comunicación interventricular conoventricular y arteria umbilical única. Se realizaron las interconsultas necesarias, estudios sonográficos y radiológicos para completar el diagnóstico y se ofreció asesoramiento genético y seguimiento del caso según las complicaciones reportadas en la literatura médica y los hallazgos clínicos de la paciente.Congenital hemidysplasia with icthyosis and limb defects is a hereditary, monogenic and infrequent disease transmitted as a dominant trait linked to the X chromosome. The case of a female patient with this neonatal clinical diagnosis showing ichthyosiform erythroderma on the right hemibody, accompanied with hypomelia of the right upper and lower limbs, bone defects in the affected limbs and spinal column, unilateral renal agenesia, congenital heart disease with inter- and conoventricular communication, and a unique umbilical artery was reported. The necessary inter-consultations were arranged and sonographic and radiological studies were conducted to complete the diagnosis. Genetic counselling was given and the case was followed up according to the complications reported in medical literature, and to the clinical findings of the patient.

Knowledge and Oral Health Attitudes among Parents of Children with Congenital Heart Disease

OpenAIRE

Suvarna, Reshma; Rai, Kavita; Hegde, Amitha M

2011-01-01

ABSTRACT Congenital heart disease (CHD) is a devastating complex of diseases resulting from defects of development. It affects more than 1 of every 100 live births. Early preventive dental care should be adjusted to the special needs of these children in their first years of life. Knowledge of parental attitudes and experiences of dental care are therefore important. Aim : This study was done to assess the knowledge and attitudes among parents of children with congenital heart disease towards...

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

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Xiaodong Jiao

Full Text Available This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR markers, and the logarithm of odds (LOD scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and postnatal mice lens was investigated with TaqMan probe.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis suggested a potential region on chromosome 11q23 harboring CRYAB. DNA sequencing identified a missense variation: c.34C>T (p.R12C in CRYAB that segregated with the disease phenotype in the family. Subsequent interrogation of our entire cohort of familial cases identified a second familial case localized to chromosome 11q23 harboring a c.31C>T (p.R11C mutation. In silico analyses suggested that the mutations identified in familial cases, p.R11C and p.R12C will not be tolerated by the three-dimensional structure of CRYAB. Real-time PCR analysis identified the expression of Cryab in mouse lens as early as embryonic day 15 (E15 that increased significantly until postnatal day 6 (P6 with steady level of expression thereafter.Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes

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Vrinten, C.; van der Zwaag, A.M.; Weinreich, S.S.; Scholten, R.J.; Verschuuren, J.J.

2014-01-01

BACKGROUND: Myasthenia is a condition in which neuromuscular transmission is affected by antibodies against neuromuscular junction components (autoimmune myasthenia gravis, MG; and neonatal myasthenia gravis, NMG) or by defects in genes for neuromuscular junction proteins (congenital myasthenic

Overview of Usher's Syndrome: Congenital Deafness and Progressive Loss of Vision

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Vernon, McCay

1974-01-01

Usher's syndrome, a genetic condition causing congenital profound hearing loss and a progressive blindness due to retinitis pigmentosa, affects an estimated three to six percent of children in educational and rehabilitative programs for the hearing impaired. (Author)

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

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Malik, Sajid; Afzal, Muhammad

2013-03-01

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

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

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

2014-07-01

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

Congenital constriction of the foramen of Monro

International Nuclear Information System (INIS)

Marions, O.; Boethius, J.

1986-01-01

We report two cases of hydrocephalus in adults. The radiological investigations and direct inspection during surgery in one of the cases indicate that the hydrocephalus is caused in both cases by a benign stricture in the region of the foramen of Monro and that this constriction is congenital. This origin of hydrocephalus has not been reported previously in adults. (orig.)

Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

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Duess, Johannes W; Puri, Prem

2015-08-01

Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

Prevalence of Congenital Malformations

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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.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

DEFF Research Database (Denmark)

Dad, S.; Østergaard, Elsebet; Thykjær, T.

2010-01-01

Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous...... Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical...... to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic...

Congenital cutaneous candidiasis: A rare and unpredictable disease

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Sujit A Jagtap

2011-01-01

Full Text Available Congenital cutaneous candidiasis (CCC is an extremely rare disorder that presents within the first 6 days of life. The manifestations ranges from diffuse skin eruption without any systemic symptoms to respiratory distress, hepatosplenomegaly, sepsis, and death. We report a neonate who presented with generalized skin eruptions at birth, characterized by erythematous macules and papules. The eruption involved head, face, neck, trunk, and extremities. Candida albicans was demonstrated on direct KOH smear, skin biopsy. The disease implies a congenital intrauterine infection and is different from neonatal candidiasis, which manifests as thrush or diaper dermatitis. The infection is acquired from the maternal genital tract in an ascending fashion. Clinical features, direct smear examination of specimen, and appropriate cultures are useful in differentiating the lesions from other more common dermatoses of the neonatal period. Topical antifungal therapy is sufficient unless systemic candidiasis is present. Prognosis for congenital cutaneous candidiasis is good.

Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

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Hunter, Janel Darcy; Davis, Melissa Ann; Law, Jennifer Rachel

2017-01-01

The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4 phenotype

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Fernandez Bridget A

2012-11-01

Full Text Available Abstract Background Severe congenital neutropenia type 4 (SCN4 is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3. Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4 is caused by autosomal recessive mutations in SLC45A2. Methods We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. Results The siblings’ phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with “partial OCA” in childhood. Conclusions This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

OpenAIRE

Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

2014-01-01

We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right vent...

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

International Nuclear Information System (INIS)

Abdel-Gawad, I.I.; Mohammad, M.H.M.

2000-01-01

Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

[Identification of risk factors for congenital malformations].

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

2014-11-01

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

Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

International Nuclear Information System (INIS)

Gagov, E.; Iieva, E.; Gvanska, G.

2012-01-01

Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

Congenital platelet function defects

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

The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

Science.gov (United States)

Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

2016-11-01

We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

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.

General Concepts in Adult Congenital Heart Disease

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Ferit Onur Mutluer

2018-02-01

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

Congenital abnormalities of the vertebral column in ferrets.

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Proks, Pavel; Stehlik, Ladislav; Paninarova, Michaela; Irova, Katarina; Hauptman, Karel; Jekl, Vladimir

2015-01-01

Vertebral column pathologies requiring surgical intervention have been described in pet ferrets, however little information is available on the normal vertebral formula and congenital variants in this species. The purpose of this retrospective study was to describe vertebral formulas and prevalence of congenital vertebral anomalies in a sample of pet ferrets. Radiographs of 172 pet ferrets (96 males and 76 females) were included in this retrospective study. In 143 ferrets (83.14%), five different formulas of the vertebral column were recorded with normal morphology of vertebrae (rib attachment included) but with a variable number of thoracic (Th), lumbar (L), and sacral (S) vertebrae. The number of cervical (C) vertebrae was constant in all examined animals. Observed vertebral formulas were C7/Th14/L6/S3 (51.74%), C7/Th14/L6/S4 (22.10%), C7/Th14/L7/S3 (6.98%), C7/Th15/L6/S3 (1.74%), and C7/Th15/L6/S4 (0.58%). Formula C7/Th14/L6/S4 was significantly more common in males than in females (P < 0.05). Congenital spinal abnormalities were found in 29 ferrets (16.86%), mostly localized in the thoracolumbar and lumbosacral regions. The cervical region was affected in only one case. Transitional vertebrae represented the most common congenital abnormalities (26 ferrets) in the thoracolumbar (13 ferrets) and lumbosacral regions (10 ferrets) or simultaneously in both regions (three ferrets). Other vertebral anomalies included block (two ferrets) and wedge vertebra (one ferret). Spina bifida was not detected. Findings from the current study indicated that vertebral formulas may vary in ferrets and congenital abnormalities are common. This should be taken into consideration for surgical planning. © 2014 American College of Veterinary Radiology.

Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A‐II in Newborn Piglets

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Ad de Groof

2016-10-01

Full Text Available Congenital tremor type A‐II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently‐described virus: atypical porcine pestivirus (APPV. Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested. Piglets on a farm with no history of congenital tremor were PCR‐negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV‐infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR‐negative for the virus, and these piglets were all without congenital tremors. Long‐term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans‐placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A‐II in piglets.

Atypical Porcine Pestivirus: A Possible Cause of Congenital Tremor Type A-II in Newborn Piglets.

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de Groof, Ad; Deijs, Martin; Guelen, Lars; van Grinsven, Lotte; van Os-Galdos, Laura; Vogels, Wannes; Derks, Carmen; Cruijsen, Toine; Geurts, Victor; Vrijenhoek, Mieke; Suijskens, Janneke; van Doorn, Peter; van Leengoed, Leo; Schrier, Carla; van der Hoek, Lia

2016-10-04

Congenital tremor type A-II in piglets has been regarded as a transmissible disease since the 1970s, possibly caused by a very recently-described virus: atypical porcine pestivirus (APPV). Here, we describe several strains of APPV in piglets with clinical signs of congenital tremor (10 of 10 farms tested). Piglets on a farm with no history of congenital tremor were PCR-negative for the virus. To demonstrate a causal relationship between APPV and disease, three gilts were inoculated via intramuscular injection at day 32 of pregnancy. In two of the three litters, vertical transmission of the virus occurred. Clinical signs of congenital tremor were observed in APPV-infected newborns, yet also two asymptomatic carriers were among the offspring. Piglets of one litter were PCR-negative for the virus, and these piglets were all without congenital tremors. Long-term follow up of farm piglets born with congenital tremors showed that the initially high viremia in serum declines at five months of age, but shedding of the virus in feces continues, which explains why the virus remains present at affected farms and causes new outbreaks. We conclude that trans-placental transmission of APPV and subsequent infection of the fetuses is a very likely cause of congenital tremor type A-II in piglets.

Familial co-occurrence of congenital heart defects follows distinct patterns

NARCIS (Netherlands)

Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice; Loffredo, Christopher A.; McBride, Kim L.; Hinton, Robert B.; van Engelen, Klaartje; Gertsen, Emma C.; Mulder, Barbara J. M.; Postma, Alex V.; Anderson, Robert H.; Hjortdal, Vibeke E.; Brunak, Søren; Larsen, Lars A.

2017-01-01

Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making,

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

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Jonathan T W Schubert

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

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

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

2017-01-01

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

Management of congenital bladder diverticulum in children: A report of seven cases

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Rachid Khemakhem

2013-01-01

Full Text Available Background: The purpose of the study is to present the author′s experience with congenital bladder diverticula in seven pediatric patients at a developing world tertiary care center. Materials and Methods: Records of seven patients diagnosed and treated as congenital bladder diverticulum, from January 1998 to December 2009 were retrospectively reviewed for age, sex, clinical symptoms, investigative work-up, operative notes, and postoperative follow-up. Results: All patients were males. Age at presentation ranged from six months to six years (mean three years and six months. All were manifested postnatally by urinary tract infection in four cases, bladder retention in three cases and abdominal pain in two cases. Diagnosis was suggested by ultrasound and confirmed by voiding cystourethrography (VCUG in all cases and urethrocystoscopy in three cases. Open surgical excision of diverticulum was done in all the patients associated with ureteral reimplantation in four patients with VCUG-documented high-grade vesicoureteral reflux (VUR. Average follow-up was four years; there is a resolution of symptoms and no diverticulum recurrence at the defined mean follow-up. Conclusion: Recurrent urinary tract infections and voiding dysfunction in pediatric population should always be evaluated for congenital bladder diverticulum. Investigations such as abdominal ultrasound, VCUG and nuclear renal scanning, form an important part of preoperative diagnostic work-up and postoperative follow up. Diverticulectomy with ureteral reimplantation in case of high-grade reflux, provides good results without recurrence.

Congenital Heart Information Network

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... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis

NARCIS (Netherlands)

Yen-Nicolay, S.; Boursier, C.; Rio, M. del; Lefeber, D.J.; Pilon, A.; Seta, N.; Bruneel, A.

2015-01-01

PURPOSE: The O-glycan abnormalities accompanying some congenital disorders of glycosylation, namely conserved oligomeric Golgi-congenital disorders of glycosylation (COG-CDGs) and ATP6V0A2-CDGs, are mainly detected using electrophoresis methods applied to circulating apolipoprotein C-III. The

Berardinelli-Seip congenital lipodystrophy in two siblings

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T Rao

2014-01-01

Full Text Available Berardinelli-Seip congenital lipodystrophy (BSCL is a very rare autosomal recessive disorder characterized by various dermatological and systemic manifestations such as lipoatrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans, and acromegaloid features. BSCL type 2 is more common and severe, with onset in the neonatal period or in early infancy. The locus for BSCL2 has been identified on chromosome 11q13. Early recognition and differentiation from other congenital generalized lipodystrophies help in the initiation of appropriate preventive and therapeutic measures such as lifestyle modification and pharmacotherapy that helps postpone the onset of metabolic syndrome. We report BSCL type 2 in two siblings with several cutaneous manifestations like acanthosis nigricans, hypertrichosis, prominent subcutaneous veins, and increased lanugo hair.

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

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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.

Successful treatment of congenital acute myeloid leukemia (AML-M6) in a premature infant.

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van Dongen, Joyce C A; Dalinghaus, Michiel; Kroon, Andre A; de Vries, Andrica C H; van den Heuvel-Eibrink, Marry M

2009-11-01

Congenital acute myeloid leukemia (AML), and especially AML-M6 is a rare disease with a poor prognosis. Moreover, reports of treatment outcome of congenital AML-M6 in premature infants are not available. We report the first treated case of congenital AML-M6 in a premature girl, who received a full AML protocol. She presented with blueberry-muffin spots, anemia, high white blood cell count, and serious cardiopulmonary distress. Peripheral blood smears showed AML-M6 blasts. After treatment with a sequential low-dose cytarabine after birth and full-dose AML treatment according to the MRC-12 protocol at the age of 2 months, she now is in continuous complete remission for 4 years.

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.

Genetics Home Reference: critical congenital heart disease

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

No auditory experience, no tinnitus: Lessons from subjects with congenital- and acquired single-sided deafness.

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Lee, Sang-Yeon; Nam, Dong Woo; Koo, Ja-Won; De Ridder, Dirk; Vanneste, Sven; Song, Jae-Jin

2017-10-01

Recent studies have adopted the Bayesian brain model to explain the generation of tinnitus in subjects with auditory deafferentation. That is, as the human brain works in a Bayesian manner to reduce environmental uncertainty, missing auditory information due to hearing loss may cause auditory phantom percepts, i.e., tinnitus. This type of deafferentation-induced auditory phantom percept should be preceded by auditory experience because the fill-in phenomenon, namely tinnitus, is based upon auditory prediction and the resultant prediction error. For example, a recent animal study observed the absence of tinnitus in cats with congenital single-sided deafness (SSD; Eggermont and Kral, Hear Res 2016). However, no human studies have investigated the presence and characteristics of tinnitus in subjects with congenital SSD. Thus, the present study sought to reveal differences in the generation of tinnitus between subjects with congenital SSD and those with acquired SSD to evaluate the replicability of previous animal studies. This study enrolled 20 subjects with congenital SSD and 44 subjects with acquired SSD and examined the presence and characteristics of tinnitus in the groups. None of the 20 subjects with congenital SSD perceived tinnitus on the affected side, whereas 30 of 44 subjects with acquired SSD experienced tinnitus on the affected side. Additionally, there were significant positive correlations between tinnitus characteristics and the audiometric characteristics of the SSD. In accordance with the findings of the recent animal study, tinnitus was absent in subjects with congenital SSD, but relatively frequent in subjects with acquired SSD, which suggests that the development of tinnitus should be preceded by auditory experience. In other words, subjects with profound congenital peripheral deafferentation do not develop auditory phantom percepts because no auditory predictions are available from the Bayesian brain. Copyright © 2017 Elsevier B.V. All rights

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

Nonclassic Congenital Adrenal Hyperplasia

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Selma Feldman Witchel

2010-01-01

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

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

Congenital heart disease and its journey from dental plaque to arterial plaque

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Vinathi Reddy Kankara

2016-01-01

Full Text Available Congenital heart disease is mostly found in children, approximately around 7–10% from overall heart diseases. The etiology is multifactorial but reported associations include untreated maternal diabetes, phenylketonuria, intake of retinoic acid last but not least is oral pathogens present in periodontopathic bacteria. The main objective of this article is to explain about different mechanisms by which it is associated with dental, periodontal manifestations. It also explains about two patients who reported to our hospital with congenital heart disease and their dental and periodontal management.

Maternal life event stress and congenital anomalies.

Science.gov (United States)

Carmichael, S L; Shaw, G M

2000-01-01

We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

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.

Prognostic importance of congenital cataract morphology: A case report

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Çağrı İlhan

2018-02-01

Full Text Available Congenital cataract (CC has an important place in pediatric ocular diseases. CCs are different from senile nuclear cataracts in terms of their etiologic, clinic and morphological characteristics. CCs occur many different forms such as non-hereditary isolated cases or autosomal dominant bilateral cases. In addition, many of ocular and systemic diseases can be associated with CC and ophthalmologist should be aware of these potential risks. In this article, we questioned whether the different morphological features of CC have prognostic importance or effect decision of surgery by considering a case of CC.

NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

Data.gov (United States)

U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

Data.gov (United States)

U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2017. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

[Influential factors on congenital gastrointestinal malformation:a hospital-based case-control study].

Science.gov (United States)

Jiang, Xuejin; Xu, Guang; Shen, Lijun; Wu, Jing; Chen, Hui; Wang, Youjie

2014-01-01

To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention. A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province, from April 2011 to August 2012. Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire. Data was analyzed using SPSS 18.0 software. Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR = 3.35, 95%CI:1.51-7.41) and folic acid (OR = 0.28, 95%CI:0.15-0.52), exposure to paints (OR = 5.05, 95%CI:1.32-19.29) and pesticides (OR = 15.20, 95%CI:1.55-148.99) prior to or during pregnancy, and also associated with medication intake of the father (OR = 3.70, 95% CI:1.13-12.10), smoking (OR = 2.39, 95% CI:1.24-4.62), drinking alcohol (OR = 2.47, 95% CI:1.20-5.07), exposure to the agents for indoor cleaning (OR = 16.42, 95% CI:1.71-157.92) and exposure to paints (OR = 9.92, 95% CI:2.66-36.98) before conception. Congenital gastrointestinal malformation was affected by multiple factors. Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother, exposure to paints exposure and pesticide exposure before or during pregnancy, and medication intake by the father, smoking, drinking alcohol, exposure to indoor cleaning agents/paint before conception. The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.

Congenital Midline Tongue Base Mass in An Infant: Lingual Hamartoma

OpenAIRE

Fadzilah, Noraziana; Azman, Mawaddah; See, Goh Bee

2016-01-01

Lingual hamartoma is a rare finding of congenital midline posterior tongue mass. The lesion may be seen as a single anomaly or maybe associated with syndrome especially the Oral Facial Digital Syndrome (OFDS). Here, we report an otherwise normal and healthy two-month-old boy with a congenital midline base of tongue mass presented with snoring and episodic vomiting since the age of 1 month. Tumour excision from the area of foramen of caecum recovered a pinkish pedunculated tumour. Histopatholo...

Congenital lobar emphysema in neonates: Anaesthetic challenges

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Mridu Paban Nath

2011-01-01

Full Text Available Congenital lobar emphysema (CLE is a potentially reversible, though possibly life-threatening, cause of respiratory distress in the neonate. It poses dilemma in diagnosis and management. We are presenting a 6-week-old baby who presented with a sudden onset of respiratory distress related to CLE affecting the left upper lobe. Lobectomy was performed under general anaesthesia with one lung ventilation. The details of anaesthetic challenges and management are described here.

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)

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

Science.gov (United States)

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

2015-10-01

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

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

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Debangshu Ghosh

2015-01-01

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

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 ...

Laboratory-confirmed Congenital Rubella Syndrome at the ...

African Journals Online (AJOL)

Esem

ORIGINAL ARTICLE. Laboratory-confirmed Congenital Rubella Syndrome at the University Teaching Hospital in Lusaka,. Zambia-Case Reports. 1,2. 3. 3. 4 ... microcephaly. Rubella Immunoglobulin M (IgM) results were positive. The third case, a girl, was seen at twelve weeks and brought in for slow growth rate. On.

Congenital Ewing's Sarcoma in a neonate in Uyo - a case report ...

African Journals Online (AJOL)

Congenital Ewing's sarcoma is a very rare occurrence indeed with only one case involving the humerus and none involving the ulna that has been noted in the literature to our knowledge. It is one of those tumours that not only do they rarely occur in the neonatal period, but is also very uncommon in black people.

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

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

The role of disability self-concept in adaptation to congenital or acquired disability.

Science.gov (United States)

Bogart, Kathleen R

2014-02-01

Current theories of adaptation to disability do not address differences in adaptation to congenital or acquired disability. Although people with congenital disabilities are generally assumed to be better adapted than people with acquired disabilities, few studies have tested this, and even fewer have attempted to explain the mechanisms behind these differences. This study tested the proposition that whether a disability is congenital or acquired plays an important role in the development of the disability self-concept (consisting of disability identity and disability self-efficacy), which in turn, affects satisfaction with life. It was predicted that disability self-concept would be better developed among people with congenital, compared with acquired disabilities, predicting greater satisfaction with life in those with acquired conditions. 226 participants with congenital and acquired mobility disabilities completed a cross-sectional online questionnaire measuring satisfaction with life, self-esteem, disability identity, disability self-efficacy, and demographic information. Self-esteem, disability identity, disability self-efficacy, and income were significant predictors of satisfaction with life. Congenital onset predicted higher satisfaction with life; disability identity and disability self-efficacy, but not self-esteem, partially mediated the relationship. Findings highlight the distinction between adaptation to congenital versus acquired disability and the importance of disability self-concept, which are underresearched constructs. Results suggest that rather than attempting to "normalize" individuals with disabilities, health care professionals should foster their disability self-concept. Possible ways to improve disability self-concept are discussed, such as involvement in the disability community and disability pride. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

Science.gov (United States)

Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

2006-01-01

Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

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

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Gholamhossein Ghaffarpour

2014-01-01

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

An integrated diagnosis strategy for congenital myopathies.

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Johann Böhm

Full Text Available Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor mutations in six patients and NEB (nebulin mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.

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)