Search Results
Results 201 - 250 of 1156
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Yuasa Motoyuki - - 2009
Recently, the effects of environmental risk factors including chemical compounds and parents' lifestyles on the health of the next generations have widely gathered public concerns around the world because of the vulnerability of children to such environmental risk factors. To elucidate the processes and mechanisms of the effects in more ...
Acerini C L CL Department of Paediatrics, University of Cambridge, Cambridge, UK. - - 2009
Recent studies in other European countries suggest that the prevalence of congenital cryptorchidism continues to increase. This study aimed to explore the prevalence and natural history of congenital cryptorchidism in a UK centre. Between October 2001 and July 2008, 784 male infants were born in the prospective Cambridge Baby Growth ...
Ferede Atakelet - - 2009
Colonic atresia, unlike small intestine atresia, is a rare congenital malformation. Congenital absence of the entire colon is exceptionally rare. Moreover, an association of omphalocele and complete absence of the colon has not yet been reported in the literature. We present an infant born with such combination of congenital anomalies.
Noyes N - - 2009
Over the past decade, the number of reported live births resulting from oocyte cryopreservation has rapidly increased. To appreciate the true number of children born, verified live births were tabulated and assessed. A literature search was performed; authors were then contacted to verify birth outcomes and provide updates. A database ...
Chen Bing-Yu - - 2009
BACKGROUND/PURPOSE: Congenital anomalies are important medical and public health conditions. However, the occurrence rates of congenital anomalies and their risk factors are unknown in Taiwan. We used the medical-practitioner-reported birth registry in 2002 to determine the occurrence of individual congenital anomalies and their associated risk factors, such as maternal age, ...
Fusco Carlo - - 2009
A 3-year-old female infant with Charcot-Marie-Tooth disease type 1A had congenital pes cavus, normal motor development, and duplication of the peripheral myelin protein 22 gene, PMP22. Her father, carrying the same gene duplication, developed neuropathy, tremor, and auditory impairment beginning in early adulthood. This is a case of congenital pes ...
Parisi Melissa A MA Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington 98105, - - 2009
A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with congenital diaphragmatic hernia (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, cleft palate, congenital heart defect, digital anomalies, and dysmorphic facial features. ...
Ashmeade Terri - - 2009
Neonates with congenital diaphragmatic hernia (CDH) often have other major malformations. Anatomic airway anomalies associated with CDH include congenital stenosis, pulmonary hypoplasia, and abnormal bronchial branching. We describe an infant with CDH who, after developing recurrent upper-lobe atelectasis, was found to have a right tracheal bronchus. This clinically significant anomaly ...
Sethi Sonia - - 2009
Only 2 neonates with transplacentally or perinatally acquired (congenital) babesiosis have been reported. We describe a probable third congenital case of babesiosis in a 26-day-old infant; transmission was determined on the basis of a blood smear from the infant (15% parasitemia) and serologic results from the infant and mother.
Swamy Ravi - - 2009
AIM: Talipes is a congenital anomaly that can be corrected conservatively or surgically. Despite advances in management, a proportion of pregnancies still result in termination. We therefore aimed to establish the birth prevalence, interventions and outcome of talipes in our population. METHODS: Cases with foetal talipes were identified from the ...
Koh Clare - - 2009
Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive ...
Mangones Tania - - 2010
Congenital cardiovascular malformations (CCVMs) are the most common forms of congenital defects, contributing to morbidity and mortality in neonates but information on the association of CCVMs and race is limited. This study aims to determine prevalence of congenital cardiovascular malformations (CCVMs) in the Hudson Valley Region (HVR) of NY State ...
Berber R - - 2009
Congenital pseudarthrosis of the tibia is a complex and rare condition of infancy. Long bone pseudarthrosis is strongly linked to neurofibromatosis, a common genetic disorder in which pseudarthrosis tends to occur early. This report describes a similar emergency department presentation in a 4-month-old infant with subsequent diagnosis of neurofibromatosis type ...
Thiagalingam Sureka - - 2009
This report describes the corneal pathology in an infant with newborn primary congenital glaucoma and discusses whether these findings could be due to a developmental anomaly. The corneal specimen of a 4-month-old infant with newborn primary congenital glaucoma and cloudy corneas who had undergone penetrating keratoplasty was evaluated by light ...
Karadeniz Leyla - - 2009
Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born ...
Mundinger Gerhard S - - 2009
Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of ...
Orioli Iêda M - - 2009
BACKGROUND: One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. METHODS: An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, ...
Winch Peter D - - 2009
BACKGROUND: There is a paucity of literature discussing the predictive likelihood of successfully extubating neonates and infants in the operating room immediately following congenital cardiac surgery. Given the unknown consequences of anaesthetics on neurodevelopmental outcomes, minimising the exposure of this population to such agents may have long-term benefits. METHODS: Retrospective ...
Deshpande S A - - 2009
BACKGROUND: The presence of isolated single umbilical artery (SUA) in infants has been associated with an increased risk of occult renal malformations. However, the need for routine postnatal renal imaging of such infants, especially in an era of now routine antenatal fetal sonography, is controversial. AIM: To determine the prevalence ...
Tunc T - - 2009
The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical ...
Malhotra A - - 2009
We present the antenatal cardiac findings in an infant in whom a postnatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) was confirmed. The antenatal findings at 34 weeks' gestation included biventricular cardiac hypertrophy with pericardial effusion, multiple skeletal anomalies and cerebral ventricular dilatation. A severe CDG-Ia multisystem clinical ...
Zagólski O - - 2009
Vestibular-evoked myogenic potentials and caloric tests in infants with congenital rubella. OBJECTIVE: Congenital rubella is rare due to maternal vaccination, but vestibular function can be markedly impaired in affected infants. Currently, vestibular testing is not routinely performed in infants. This study evaluated inner ear function in infants with congenital rubella. ...
Harris Susan R - - 2008
Identifying the underlying cause of congenital hypotonia remains difficult, despite advances in diagnostic laboratory and imaging techniques. Clinical evaluation strategies and standardized developmental tests can assist in differentiating hypotonia resulting from primary involvement of the upper motoneuron (central hypotonia) versus that involving the lower motoneuron and motor unit (peripheral hypotonia). ...
Tabari A M - - 2008
OBJECTIVE: To retrospectively audit and analyse all the Transfontanelle Neurosonographic scans performed at the Aminu Kano Teaching Hospital (AKTH), between January to September, 2004. METHODS: Information on the gray scale appearance of the ventricles, cerebral and cerebellar parenchyma, extra axial fluid spaces, status of the sulci and gyri and the ...
Araujo Orlei Ribeiro de OR Unidade de Terapia Intensiva Neonatal, Hospital Santa Marina, São Paulo, SP, - - 2008
To evaluate risks for persistent pulmonary hypertension in the newborn, confirmed by echocardiography, associated with cesarean deliveries and other factors. Cohort of all deliveries >36 weeks within a period of 23 months. A nested case-control study was performed in a subset of the cohort, involving newborns admitted into neonatal intensive ...
Bukowinski Anna T - - 2008
Haemangiomas are common, benign, vascular tumours, observed in 4-12% of infants during the first year of life. Most cases progress without complication, yet a small proportion experience life-threatening complications. Concomitant congenital malformations have been reported in a small but significant proportion of haemangioma patients. This study aimed to describe haemangioma ...
Lelli Gary J GJ - - 2008
An otherwise healthy 1-month-old female infant presented with a congenital nasal appendage in the left medial canthal region with associated left-sided nasal hypoplasia. The diagnosis of proboscis lateralis was made, and a 2-stage excision and reconstruction was performed in conjunction with probing and irrigation of the lacrimal system. The patient ...
Swamy Ravi - - 2008
OBJECTIVE: The birth prevalence and malignant tumour recurrence of sacrococcygeal teratoma (SCT) have not been clearly defined. We conducted this study to determine the birth prevalence, prenatal detection rate, frequency of tumour recurrence and outcome of SCT in a population-based cohort. METHODS: Cases were identified from a population-based, regional database ...
Cohen-Overbeek T E - - 2008
OBJECTIVES: To determine whether the pre- or postnatal diagnosis of either isolated or non-isolated duodenal obstruction (DO) is associated with different outcomes. METHODS: A single-center retrospective analysis was carried out of 91 cases diagnosed with a DO between January 1991 and June 2003. Data on the diagnosis, treatment and outcomes ...
Poretti Andrea - - 2009
There is increasing evidence that the cerebellum is susceptible to both prenatal infections and haemorrhages as well as being vulnerable in extremely preterm babies, but not to perinatal and postnatal hypoxic-ischaemic injuries. Starting with the imaging appearance we describe and illustrate a spectrum of prenatal cerebellar disruptions: cerebellar agenesis; unilateral ...
Castilla Eduardo E - - 2008
Sirenomelia and cyclopia share etiologic and pathogenic characteristics. A cluster of these two patterns of malformation in the city of Cali, Colombia, is described. Four sirenomelia and four cyclopia cases were born within a 165 days period in one hospital in Cali. The lapse between conception dates of first and ...
Kuo Chien-Hung - - 2008
BACKGROUND: Congenital vocal cord paralysis (VCP) is a common cause of congenital stridor. Before the widespread application of flexible bronchoscopy (FB) by pediatricians, congenital stridor in infants was usually attributed to laryngomalacia. Prompt recognition and careful follow-up is crucial for the management of congenital VCP. METHODS: We performed a retrospective ...
Brand M Colleen - - 2008
Although scoliosis at birth is rare, conditions at birth and in the newborn period predispose newborns to the development of scoliosis in later life. Scoliosis is congenital when associated with abnormal vertebral segmentation regardless of the age of diagnosis. Other conditions may predispose neonates to vertebral damage or the development ...
Rocha G M - - 2008
AIM: The aim of the study was to review our experience in the management of newborns with congenital diaphragmatic hernia (CDH). METHODS: A retrospective study including all infants with CDH at the Hospital de São João, a center that does not provide ECMO support, for the period from 1997 to ...
Marangoni A - - 2008
Positive syphilis serology was noted in 119 (0.49%) of the 24 053 pregnant women delivering at St Orsola Hospital in Bologna, Italy, from November 2000 through July 2007. Six presumptive cases of congenital syphilis with IgM western blot positive results were found. Two infants had a positive cerebrospinal fluid (CSF) ...
Van den Broek Mieke J A - - 2009
Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of ...
Hunter Alasdair G W - - 2008
Gastroschisis is a major malformation which requires immediate surgical care to return the exposed viscera to the abdominal cavity, parenteral nutrition until bowel motility permits oral feedings, and evaluation for coexisting malformations. Almost all cases are diagnosed prenatally using midtrimester ultrasound and maternal serum alphafetoprotein measurement. This allows most infants ...
Rocha G M - - 2008
AIM: The aim of the study was to review our experience in the management of newborns with congenital diaphragmatic hernia (CDH). METHODS: A retrospective study including all infants with CDH at the Hospital de São João, a center that does not provide ECMO support, for the period from 1997 to ...
Campos Mauricio A - - 2008
BACKGROUND: There is a normal transition from the kyphotic alignment that is present in the spine of the newborn to the normal sagittal contours that are present in the adult spine. Although abnormal kyphosis at the thoracolumbar junction in infants is rare, it can result from congenital anomalies and bone ...
Williams A N - - 2009
John Locke (1632-1704) is primarily remembered for his highly influential philosophical works regarded as the engine of the Enlightenment. It is less well known that Locke also was a highly regarded and influential physician. In 1666, Locke performed a postmortem examination of an 18-month-old child who had physical signs of ...
Puhó Erzsebet H - - 2008
PURPOSE: To evaluate maternal age and birth order, in addition socioeconomic status and finally occupational background of mothers who delivered babies with different isolated ocular congenital abnormalities. METHODS: The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002 was used and the evaluation of maternal variables was based ...
Al-Futaisi Amna - - 2008
Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient ...
Singh Avninder - - 2008
Atypical teratoid /rhabdoid tumor (AT/RT) of the central nervous system is a rare but highly aggressive neoplasm that usually affects young children and infants and follows a rapidly fatal course. We report a case of AT/RT in a 3-month-old male infant who also had coincidental unilateral congenital cataract even though ...
Khan Arif O - - 2008
PURPOSE: To report the genetic basis for congenital glaucoma with clinical aniridia in an infant and a milder phenotype in her mother. METHODS: Prospective case series. RESULTS: An infant girl with almost complete lack of iris tissue was referred and treated for congenital glaucoma. Although the presumed clinical diagnosis was ...
Pober B R BR Center for Human Genetics, Massachusetts General Hospital, Boston, MA 02114, USA. - - 2008
Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000-1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are ...
Lin Ching-Chun - - 2008
BACKGROUND: There are no published studies focusing on adverse birth outcomes or infant mortality in the semiconductor industry. AIM: To investigate whether female workers have higher risks of any adverse birth outcome or death from congenital malformation. METHODS: A total of 27,610 female workers had been employed in eight semiconductor ...
Cooper William O - - 2008
PURPOSE: To assess the positive predictive value of computerized records in a linked database of vital records and infant claims, with medical record confirmation to detect congenital malformations in a Medicaid population. METHODS: Study subjects were selected from cases identified for three studies of congenital malformations in the Tennessee Medicaid ...
Martínez-Frías María Luisa - - 2008
Most studies associating different types of malformations with the presence of a single umbilical artery (SUA) are based on small and selected series. Here, we present the results of a study aimed at identifying the most frequent, and the most specific anomalies related to SUA. We analyzed 19,909 consecutive newborn ...
Salihu Hamisu M - - 2008
OBJECTIVES: To assess infant mortality patterns associated with Dandy-Walker syndrome (DWS) and the impact of concomitant anomalies. METHODS: Data for this study were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system. RESULTS: The 196 cases of DWS had a high infant mortality rate ...
Shaw Jacquelyn - - 2008
Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. Some of these anomalies have no medical significance, but merely provide clues to suggest the diagnosis. The most common form of trisomy 18 is the nondisjunction type, which affects every cell of the body with ...
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