yecheon congenital dysfibrinogenemia: Topics by WorldWideScience.org

Nonchylous idiopathic pleural effusion in the newborn

PMID:8677780

1996-05-01

Congenital Lobar Emphysema

Congenital isolated pleural effusion is a rare cause of respiratory distress in neonates. It is usually chylous. Herein, we report a rare case of nonchylous congenital idiopathic pleural effusion.

2011-01-01

Role of congenital rubella reference laboratory: 21-months-surveillance in Liguria, Italy.

SummaryCongenital lobar emphysema (CLE) characterized by over distension and air-trapping in the affected lobe is one of the causes of infantile respiratory distress requiring...Full Text Available

2009-08-01

Congenital Intrahepatic Portosystemic Shunts

PMID:20812517

2009-12-01

Congenital Inner Ear Malformation: Three Dimensional Volume Rendering Image Using MR CISS Sequence

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

2008-12-15

KoreaScience (Korea)

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2003-10-01

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

Long term indwelling urethral catheterisation for congenital neuropathic bladder.

BackgroundCongenital 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...Full Text Available

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

Long term urethral catheterisation remains an important and effective method of achieving dryness and maintaining renal function in children with congenital neuropathic bladders. Those most likely to...Full Text Available

1983-04-01

Genetic Heterogeneity in Severe Congenital Neutropenia: How Many Aberrant Pathways Can Kill a Neutrophil?

An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is...Full Text Available

1988-03-01

Congenital woolly hair without P2RY5 mutation

Purpose of reviewSevere congenital neutropenia (SCN) is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial...Full Text Available

2007-12-01

Congenital anal anomalies in two families with the Opitz G syndrome.

Congenital woolly hair is a disorder with structural defects of the hair shafts. Curled hairs are noticed at birth or soon after birth and often improve with age. Some cases of woolly hairs are associated...Full Text Available

2009-01-01

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited...Full Text Available

1987-11-01

A late presenting congenital diaphragmatic hernia misdiagnosed as spontaneous pneumothorax

PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available

A Combination of Dual-mode 2,940 nm Er:YAG Laser Ablation with Surgical Excision for Treating Medium-sized Congenital Melanocytic Nevus

Congenital diaphragmatic hernia (CDH) is described as (1) failure of diaphragmatic closure at development, (2) presence of herniated abdominal contents into chest and (3) pulmonary hypoplasia. Usually,...Full Text Available

2010-09-01

Congenital Adrenal Hyperplasia

BackgroundThere are various treatment options for congenital melanocytic nevus (CMN), including surgical excision, dermabrasions, curettage, laser treatment, chemical peels and cryosurgery....Full Text Available

2009-05-01

Medline Plus

... Resources and Links Kid's Newsletter Listserv's Grandparent's Newsletter Networking Personal Stories by Affected Kids & Adults (currently not ...

Urethrorectal fistula in a horse.

Thalassemia and Venous Thromboembolism

Anomalies of the urethra are uncommon. Urethrorectal fistula in horses has only been reported in foals and only in conjunction with other congenital anomalies. This report describes the diagnosis, surgical...Full Text Available

1999-02-01

Repair of a Complex Congenital Cardiac Defect

Although the life expectancy of thalassemia patients has markedly improved over the last few decades, patients still suffer from many complications of this congenital disease. The presence of a high...Full Text Available

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Medline Plus

... stenosis. It looks from the transesophageal and the 3-D echo that most of the problem is really ... posterior leaflet, which you can see on the 3-D echo image is a major source. The anterior ...

Prosthetic rehabilitation of hypophosphatasia: a case report

Congenital nephrogenic diabetes insipidus in a baby girl.

Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline...Full Text Available

Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?

A 6-week-old girl with fever, hypernatraemia, dehydration, and polyuria failed to concentrate urine in response to exogenous vasopressin administration. There was no family history of nephrogenic diabetes...Full Text Available

1978-11-01

Klippel-feil syndrome with situs inversus. A rare association

There is ample historical verification of 46,XX congenital adrenal hyperplasia (CAH) patients being born with essentially male genitaliawhile outcome information is scant. Prior to glucocorticoid...Full Text Available

2010-01-01

Ambient air pollution and congenital heart disease: a register-based study.

Klippel-Feil Syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae. The clinical triad consists of short neck, low posterior hairline and limited neck movement. Multiple congenital anomalies have been associated with this disease. This is a case of KFS in a young girl along with situs inversus, which is an extremely rare association. Various systemic associations occurring in this multi-system disorder are also discussed. (author)

2008-04-01

The value of cardiac catheterization and cineangiography in infantile lobar emphysema

Maternal exposure to ambient air pollution has increasingly been linked to adverse pregnancy outcomes. The evidence linking this exposure to congenital anomalies is still limited and controversial. This case-control study investigated the association between maternal exposure to ambient particulate matter with aerodynamic diameter less than 10 ?m (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide, nitric oxide (NO), ozone (O(3)), and carbon monoxide (CO) and the occurrence of congenital heart disease in the population of Northeast England (1993-2003). Each case and control was assigned weekly average (weeks 3-8 of pregnancy) of pollutant levels measured by the closest monitor to the mother's residential postcode. Using exposure as both continuous and categorical variables, logistic regression models were constructed to quantify the adjusted odds ratios of exposure to air pollutants and the occurrence of each outcome group. We found exposure to ...

2011-02-17

Y-type urethral duplication presented with perineal fistula in a boy

Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants. (orig.).

The Medical Home Concept and Congenital Adrenal Hyperplasia: A Comfortable Habitat!

Urethral duplication is a rare congenital anomaly of the lower urinary system and has varied presentation. According to the Effmann classification, type IIA2-Y urethral duplication is charcterized by...Full Text Available

Should Male Gender Assignment be Considered in the Markedly Virilized Patient With 46,XX and Congenital Adrenal Hyperplasia?

Patient-centered interdisciplinary health care for children with chronic medical disorders represents an evolution from the traditional “stop and go” treatment for acute illnesses. This...Full Text Available

2010-01-01

British Library Electronic Table of Contents (United Kingdom)

Purpose We assess the outcome in 46,XX men with congenital adrenal hyperplasia who were born with Prader 4 or 5 genitalia and assigned male gender at birth. Materials and Methods After receiving institutional review board approval and subject consent we reviewed the medical records of 12 men 35 to 69 years old with 46,XX congenital adrenal hyperplasia, of whom 6 completed social and gender issue questionnaires. Results All subjects were assigned male gender at birth, were diagnosed with virilizing congenital adrenal hyperplasia at age greater than 3 years and indicated a male gender identity with sexual orientation to females. Ten of the 12 subjects had always lived as male and 2 who were reassigned to female gender in childhood subsequently self-reassigned as male. Nine of the 12 men had ...

2010-01-01

Safety and efficacy of botox injection in alleviating post-operative pain and improving quality of life in lower extremity limb lengthening and deformity correction

Role of serum carrier proteins in the peripheral metabolism and tissue distribution of thyroid hormones in familial dysalbuminemic hyperthyroxinemia and congenital elevation of thyroxine-binding globulin.

BackgroundDistraction osteogenesis is the standard treatment for the management of lower limb length discrepancy of more than 3 cm and bone loss secondary to congenital anomalies,...Full Text Available

Radionuclide angiocardiography in the diagnosis of congenital heart disorders.

To investigate the role of thyroxine-binding globulin (TBG) and albumin in the availability of thyroid hormones to peripheral tissues, comprehensive kinetic studies of thyroxine (T4) and triiodothyronine...Full Text Available

1987-08-01

Prosthodontic Rehabilitation Alternative of Patients with Cleft Lip and Palate (CLP): Two Cases Report

Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke...Full Text Available

1981-06-01

Poland's anomaly. Natural history and long-term results of chest wall reconstruction in 33 patients.

Although patients with cleft lip and palate (CLP) are not seen regularly in general dental practice, this is a frequent congenital anomaly; approximately one in every 800 live births results in a CLP....Full Text Available

2009-01-01

Phenotypic Transition of the Collecting Duct Epithelium in Congenital Urinary Tract Obstruction

Poland's anomaly is an uncommon congenital aberration of the chest wall characterized by absence of the pectoralis major muscle and other nearby musculoskeletal components. In this series, a wide spectrum...Full Text Available

1988-12-01

Pericardiectomy for Pleuropericardial Effusion Complicating Bacterial Pneumonia

Epithelial-mesenchymal transition (EMT) has emerged in recent years as an important process in the development of organ fibrosis in many human diseases. Our previous experience in a nonhuman primate...Full Text Available

2010-01-01

Severe pericardial effusion is a rare complication of bacterial pneumonia and it usually disappears under medical treatment. Herein we report a case of a girl with a congenital immunodeficient syndrome...Full Text Available

2010-01-01

Patent arterial duct

Multiple neural tube defects in the same patient with no neurological deficit

Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher...Full Text Available

MRI of congenital heart disease in childhood

Congenital deformities involving the coverings of the nervous system are called neural tube defects (NTDs). NTD can be classified as neurulation defects, which occur by stage 12, and postneurulation...Full Text Available

2010-01-01

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

MRI provides a non-invasive diagnostic tool complementing echocardiography on one hand, and showing advantages over echocardiography, on the other hand, especially after corrective procedures. The multiple different MRI sequences need to be adapted to examinations of children and patients with congenital heart disease (CHD), and can be used to detect morphologic changes, blood-flow in the heart and thoracic vessels and diastolic or systolic function of myocardium. Several factors determine the success of the examination of a complex congenital heart disease or a postoperative situs. Pediatric radiologists and radiologists experienced in congenital heart diseases have to work in close cooperation. Echocardiography should be performed before MRI. The results of prior examinations and the clinical history of the patients, including possible palliative or reconstructive operations, must be available before MRI to guide the ...

2004-02-01

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Intrauterine tracheal obstruction, a new treatment for congenital diaphragmatic hernia, decreases amniotic fluid sodium and chloride concentrations in the fetal lamb.

Retinal degenerative diseases, such as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untreatable blindness with substantive impact on the quality of life of affected individuals...Full Text Available

2010-08-31

Hypothalamo-pituitary hormone insufficiency associated with cleft lip and palate.

OBJECTIVE: To evaluate the effect of fetal tracheal occlusion on sodium and chloride concentrations in amniotic and tracheal fluid. SUMMARY BACKGROUND DATA: Intrauterine tracheal occlusion has been...Full Text Available

1997-12-01

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse

Two male patients with congenital cleft lip and palate first seen at ages 10.2 and 21.5 years presented with typical signs of hypothalamic-interior pituitary hormone deficiencies. They were found to...Full Text Available

1978-12-01

Fetal, perinatal, and infant death with congenital renal anomaly

BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available

Cystic Dysplasia of the Rete Testis Accompanying an Inguinal Hernia: A 63-Year-Old Man

Aims: To ascertain why 19.6% of pregnancies in which a fetal renal anomaly has been detected fail to produce a surviving child, and whether antenatal diagnostic accuracy has altered since...Full Text Available

2002-08-01

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

Cystic dysplasia of the rete testis (CDT) is a very rare congenital benign testicular tumor that is often associated with ipsilateral genitourinary anomalies. It is usually found in the pediatric population...Full Text Available

2011-07-01

Complex Integration of Matrix, Oxidative Stress, and Apoptosis in Genetic Emphysema

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available

2010-01-01

Screening for congenital hypothyroidism in Lebanon - An example of newborn screening in absence of mandatory law

Alveolar enlargement, which is characteristic of bronchopulmonary dysplasia, congenital matrix disorders, and cigarette smoke-induced emphysema, is thought to result from enhanced inflammation and ensuing...Full Text Available

2009-07-01

The chance finding of an aneurysm of the right sinus of Valsalva in an 11-year-old child with a ventricular septal defect and a pericardial effusion

This paper presents a group's efforts to introduce national newborn screening in Lebanon. Tandem mass spectrometry (MS) technology offers the prospect of utilizing filter paper blood specimens to screen newborns for several metabolic disorders. In order to be cost-effective, it is necessary to have a mandatory newborn screening policy. At present such a policy is not available in Lebanon. A national screening survey for congenital hypothyroidism (CH) was carried out to assess the incidence of this anomaly in the Lebanese population. Such an initiative is essential as a first step for assessing the feasibility and cost of a national screening programme. Coated beads, blood spot standards for quality control and buffer solutions used for assays were prepared in-house to minimize costs. At first, samples of umbilical cord blood spots were assayed for TSH using IRMA technique. Those samples showing borderline or high values of TSH were then assayed for total T4 (TT4) ...

2004-10-01

British Library Electronic Table of Contents (United Kingdom)

Ventricular septal defects can occur as part of other congenital cardiac malformations or as an isolated finding. Aneurysms of the sinus of Valsalva are rare, most commonly involving the right or noncoronary sinuses. They can be congenital or acquired through infection, trauma, or degenerative diseases. They frequently co-exist with ventricular septal defects, aortic valve dysfunction, or other cardiac abnormalities. More commonly, sinus of Valsalva aneurysms are diagnosed after the clinical sequelae of rupture. Several etiologic factors may lead to the development of pathologic pericardial effusion and the detection of pericardial effusion was one of the first applications of echocardiography to gain widespread acceptance. We present a case of a chance finding of an aneurysm of the right ...

2011-01-01

Severe immune haemolytic anaemia due to ceftriaxone in a patient with congenital nephrotic syndrome

British Library Electronic Table of Contents (United Kingdom)

Abstract Aim:- To describe the first case of ceftriaxone-related haemolysis in a patient with congenital nephrotic syndrome (CNS). Background:- Severe haemolysis caused by an immune reaction to ceftriaxone has mostly been described in patients with underlying haematological or immune dysfunction. Case report:- The authors present a 20-month-old boy with CNS of the Finnish type with several previous severe infections treated with ceftriaxone, admitted for suspected sepsis. Following ceftriaxone administration he developed shock secondary to an acute haemolytic reaction, with severe anaemia. Hypersensitivity to ceftriaxone was documented through positive agglutination tests. Conclusion:- Onset of haemolysis following ceftriaxone administration, particularly in a patient previously exposed to...

2011-01-01

Endoscopic management of congenital esophageal stenosis

British Library Electronic Table of Contents (United Kingdom)

Background/Purpose: Congenital esophageal stenosis (CES) is a rare malformation. Endoscopic dilations represent a therapeutic option. This study retrospectively evaluated the efficacy and safety of a conservative treatment of CES. Patients and Methods: Patients diagnosed with CES since 1980 by a barium study or endoscopy were reviewed. Endoscopic ultrasonography (Olympus UM-3R-20-MHz radial miniprobe, Olympus Corporation, Tokyo, Japan), available from 2001, allowed for the differential diagnosis of tracheobronchial remnants (TBR) and fibromuscular hypertrophy (FMH) CES. All children underwent conservative treatment by endoscopic dilations (hydrostatic and Savary). Results: Forty-seven patients (20 men) had CES. Fifteen were associated with esophageal atresia; and 8, with Down syndrome. Mea...

2011-01-01

Separation and Measurement of Plant Alkaloid Enantiomers by RP-HPLC Analysis of their Fmoc-Alanine Analogs

Screening for congenital hypothyroidism in Lebanon

Plants often synthesize secondary metabolites that are enantiomers. Enantiomers can cause very different physiological responses. Ammodendrine (1) and anabasine (2) are teratogens that can cause congenital malformations in livestock and enantiomeric forms of each have been found in Lupinus spp. an...

Practical approach to the loss of smell

Full text.National programs of neonatal screening were introduced in most countries and have proved their effectiveness against different types of retardation in children. Congenital hypothyroidism is one of the most common causes of physical and mental retardation in children. Programs of screening have shown that the incidence of this disorder is ethnic-background: it is low in Africans: 1-32000 whereas it is 1-3500 and 1-5000 in Hispanic and European newborns respectively. No previous mass screening programs were done in Lebanon. For this purpose, this program was introduced in collaboration with the IAEA. Cord blood is spotted into circles on filter paper just after delivery. These samples are air-dried at room temperature and kept at 4 degree C. They are then collected from hospitals to be screened. In the laboratory, all samples are assayed for IRMA TSH first. Those showing high or borderline TSH level (20mU/L) are then assayed for RIA TT4. Only those showing ...

1999-11-02

Isolated dextrogastria: report of two cases

Loss of the sense of smell can be easily confirmed in any physician's office by having the patient try to identify various odors. The etiology of anosmia can be extremely varied, including nasopharyngeal disorders such as rhinitis and tumors; neurologic conditions such as head trauma, neoplasms, vascular lesions and infections of the central nervous system; viral infections; familial and congenital disorders; drugs; industrial exposure; endocrine diseases, and several other disorders. The prognosis of anosmia is guarded, and its treatment depends on the etiology.

1982-09-01

Further means for reducing radiation dose during exposure of the pelvis in infants

Isolated situs inversus of the stomach with otherwise normal position of the thoracic and abdominal viscera is an extremely rare anomaly occurring in two distinct forms. Because of its close relationship to the liver, the right-sided stomach may produce interesting and confusing changes in the liver scan. Two cases illustrate the radiologic features of the two principal types of isolated congenital dextrogastria and the effect of one type on the liver scan.

'Hair-on-end' skull changes resembling thalassemia caused by marrow expansion in uncorrected complex cyanotic heart disease

A simple dose-saving procedure for the diagnosis of congenital hip dysplasia employing a diaphragm in nearfocus position is presented. Doses to the skin and the gonads were measured with a phantom for the new and other techniques. With optimal techniques the skin dose is smaller than 2 mR and the gonadal doses lie around 0.1 mR for both male and female patients. An estimate of the dose burden from undesired radiation is appended. (orig.).

Medical management of motility disorders in patients with intestinal failure: a focus on necrotizing enterocolitis, gastroschisis, and intestinal atresia

''Hair-on-end'' skull changes resembling thalassemia were rarely described in the 1950s and 1960s in children with cyanotic congenital heart diseases; these changes were described almost entirely in patients with tetralogy of Fallot or D-transposition of the great arteries. As these lesions have become correctable, the osseous changes, never common, seem now only to exist in a small number of patients with uncorrectable complex cyanotic congenital heart disease who survive in a chronic hypoxic state. We present two cases: a case of marked marrow expansion in the skull of a 5-year-old boy with uncorrectable cyanotic heart disease studied by CT, and a second case of an 8-year-old with tetralogy of Fallot and pulmonary atresia studied by plain skull radiographs. The true incidence of these findings is unknown. (orig.)

2005-07-01

British Library Electronic Table of Contents (United Kingdom)

Background: Intestinal failure (IF) is the dependence upon parenteral nutrition to maintain minimal energy requirements for growth and development. It may occur secondary to a loss of bowel length, disorders of motility, or both. Short bowel syndrome (SBS) is a malabsorptive state resulting from surgical resection, congenital defect, or diseases associated with loss of absorptive surface area. A particularly vexing problem is associated with whole bowel and/or segmental intestinal dysmotility. Motility disorders within the context of SBS and IF may relate to rapid intestinal transit secondary to loss of intestinal length, dysmotility associated with loss or poor antegrade peristalsis, or gastroparesis. Therapy may be classified into medical (prokinetic and antidiarrheal agents) and surgica...

2011-01-01

MRI of congenital heart disease in childhood; MR-Tomographie kongenitaler Herzvitien im Kindesalter

KMeyeDB: a graphical database of mutations in genes that cause eye diseases

2004-02-01

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British Library Electronic Table of Contents (United Kingdom)

KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...

2010-01-01

Infant well-being following neonatal cardiac surgery

British Library Electronic Table of Contents (United Kingdom)

Aims and objectives.- To investigate infant well-being as measured by feeding and sleeping and parental support following discharge from the NICU in infants following major cardiac surgery. Background.- Infant feeding and sleeping have been identified as two of the most important concerns reported by parents. These concerns have been reported anecdotally for infants who have undergone cardiac surgery in the neonatal period. Design.- A prospective study using questionnaires and phone interviews followed a cohort of parents of neonates who underwent surgery in the neonatal period for congenital heart disease. Methods.- The study was conducted using validated questionnaires and phone interviews with a semi-structured questionnaire. The questionnaires were administered prior to discharge from ...

2011-01-01

Familial unilateral deafness and delayed endolymphatic hydrops

British Library Electronic Table of Contents (United Kingdom)

Delayed endolymphatic hydrops (DEH) is a unique disorder characterized by fluctuating otologic symptoms in the setting of preexisting unilateral deafness. The symptoms include aural fullness, fluctuating hearing, and/or episodes of vertigo similar to those observed in Meniere disease and may occur ipsilateral or contralateral to the previously deafened ear. In most reported cases, the unilateral deafness has been a profound sensorineural hearing loss with a sudden onset that has been variously attributed to bacterial or viral labyrinthitis, acoustic or cranial trauma, otosclerosis, and congenital CMV infection. Familial occurrence of the syndrome has not previously been reported in the literature. In this report, we describe two possible familial instances of delayed DEH. These patients ra...

2007-01-01

Early-stage focal nodular hyperplasia: US/CT/MR features correlated with histology

Spatial distribution of disease: three case studies

Two cases of focal nodular hyperplasia (FNH), in which ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MR) studies detected an atypical hemorrhagic pattern associated with an intrahepatic arterio venous malformation (AVM) around the growths, are presented. In both cases, histology demonstrated a very early regenerative stage and necrotic-hemorrhagic areas within the lesions. In these cases, the analysis of radiological findings, surgical specimens and histology seemed to confirm the pathogenetic hypothesis suggested by Wanless: in normal liver parenchyma, a ``blood steal`` phenomenon due to congenital or acquired intrahepatic AVM could cause ischemic damage, appearing as a hemorrhagic necrotic area, the extent of which depends on the degree of residual portal supply. (orig.)

1994-02-01

One-year follow-up of the effects of sildenafil on pulmonary arterial hypertension and veno-occlusive disease

Maps transformed so as to have constant density of residential population were used to analyze the spatial distribution of disease in three specific areas. Each area had received recent attention because of suspected environmental pollution. The area adjacent to the Rocky Flats Facility (CO) was examined to identify any association between possible plutonium releases and increases in lung cancer or leukemia incidence. The industrial area of northern Contra Costa County (CA) was studied to explore a relationship between petrochemical industrial emissions and histologic-specific lung cancers. Finally, a suspected increase in the risk of congenital cardiac defects possibly related to pollution of the Santa Clara County (CA) water supply was investigated. No evidence of elevated risk of disease was found to be associated with either the Rocky Flats Facility or the polluted water of Santa Clara County. An increase in lung cancer, found by other investigators in earlier ...

Scientific Electronic Library Online (English)

Abstract in english We hypothesized that chronic oral administration of the phosphodiesterase-5 inhibitor sildenafil could improve the exercise capacity and pulmonary hemodynamics in patients with pulmonary arterial hypertension (PAH) on the basis of previous short-term studies. We tested this hypothesis in 14 subjects with PAH, including seven patients with the idiopathic form and seven patients with atrial septal defects, but no other congenital heart abnormalities. Patients were subjected (more) to a 6-min walk test and dyspnea was graded according to the Borg scale. Pulmonary flow and pressures were measured by Doppler echocardiography. Patients were given sildenafil, 75 mg orally three times a day, and followed up for 1 year. Sildenafil therapy resulted in the following changes: increase in the 6-min walk distance from a median value of 387 m (range 0 to 484 m) to 462 m (range 408 to 588 m; P

2005-02-01

Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130

Computed tomography of the orbit

The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.

1996-08-01

Assisted reproductive technologies for male factor infertility.

In less than a decade computed tomography (CT scanning) had a profound impact on diagnostic radiology. Radiology of the orbit is no exception. As early as 1973, reports published in the radiological literature indicated that this new noninvasive imaging method was a highly effective way of demonstrating intraorbital mass lesions. As CT scanners became widely available, computed tomography became a significant adjunct to ophthalmological diagnosis. Today the main indications for CT scanning of the orbit are: (1) suspected mass lesions, most frequently presenting as exophthalmos, (2) orbital trauma, including foreign bodies, (3) some congenital anomalies, and (4) suspicion of extension into the orbit of extraorbital disease processes. Along with ultrasonography, another new noninvasive imaging technique, CT has replaced a number of more invasive and often less effective diagnostic methods, such as orbital pneumography, venography, and arteriography as major imaging ...

1981-01-01

Health impact assessment of waste management facilities in three European countries

Experience in the diagnosis and treatment of infertility has led to an increased understanding of the prominent role male factors play in many couples' inability to conceive. While many forms of male factor infertility are amenable to treatment, for some patients there is no corrective therapy available. For this reason, a great deal of attention has been focused on developing technologies for semen processing and sperm utilization in cases of decreased semen quality. One area of research is the development of more sophisticated methods of assessing sperm function, as well as methods of sperm preparation. Progress is also being made in the application of technologies such as intrauterine insemination and in vitro fertilization in the treatment of male factor infertility. Such developments have improved prospects for fertility among patients suffering from decreased semen quality, as well as those suffering from such disorders as ejaculatory failure and congenital ...

1991-10-01

Evaluation of left ventricular volumes in patients with congenital heart disease and abnormal left ventricular geometry. Comparison of MRI and transthoraic 3-dimensional echocardiography; Vergleich der transthorakalen 3D-Echokardiographie mit der MRT zur Bestimmung linksventrikulaerer Volumina bei Patienten mit pathologischer Ventrikelgeometrie aufgrund angeborener Herzfehler

BackgroundPolicies on waste disposal in Europe are heterogeneous and rapidly changing, with potential health implications that are largely unknown. We conducted a health impact assessment of landfilling and incineration in three European countries: Italy, Slovakia and England.MethodsA total of 49 (Italy), 2 (Slovakia), and 11 (England) incinerators were operating in 2001 while for landfills the figures were 619, 121 and 232, respectively. The study population consisted of residents living within 3 km of an incinerator and 2 km of a landfill. Excess risk estimates from epidemiological studies were used, combined with air pollution dispersion modelling for particulate matter (PM10) and nitrogen dioxide (NO2). For incinerators, we estimated attributable cancer incidence and years of life lost (YoLL), while for landfills we estimated attributable cases of congenital anomalies and low birth weight infants.ResultsAbout 1,000,000, 16,000, and 1,200,000 subjects lived ...

2011-06-02

Medical treatment of nystagmus and ocular motor disorders.

Purpose: To assess the new method of 3-dimensional echocardiography in comparison to the 'gold standard' MRI as to its ability to calculate left ventricular volumes in patients with congenital heart disease. Materials and methods: Eighteen patients between the ages of 3.9 to 37.3 years (mean: 12.8{+-}9.7) with a geometrically abnormal left ventricle were examined using a 1.5 T scanner with a fast gradient-echo sequence (TR=14 ms, TE=2.6-2.9 ms, FOV=300-400 mm, flip angle=20 , matrix=128:256, slice thickness=5 mm, retrospective gating) in multislice-multiphase technique. Transthoracic 3D-echocardiography was performed with a 3.5 MHz transducer and a Tomtec {sup trademark} (Munich, Germany) system for 3D reconstruction. Results: Volume calculation was possible in all patients with 3D-echocardiography, but the muscle mass calculation only succeeded in 11 to 18 patients (61%) due to inadequate visualization of the entire myocardium. Comparing MRI and ...

2003-07-01

MRI in the diagnosis of non-compacted ventricular Myocardium (NCVM) compared to echocardiography

An increased compendium of drugs useful in ocular motor system dysfunction has expanded our capacity to treat selected ocular motility disorders. Adjunctive therapeutic modes (e.g., Fresnel prisms and orthoptic exercises) can also be beneficial. PAN and see-saw nystagmus can be treated with baclofen. Downbeat nystagmus may respond to clonazepam therapy, and prisms may help if the nystagmus can be modified with convergence. Congenital nystagmus may respond minimally to drugs (e.g., baclofen), but prisms or surgical procedures, or both, are still the primary treatment modalities. Innovar may be helpful in patients with severe, incapacitating vestibular disorders, and scopolamine alone or in combination with promethazine may be beneficial in patients with milder ambulatory acute peripheral vestibular disorders. Benign positional vertigo is best treated initially with positional exercises before drug therapy is instituted. Opsoclonus and ocular flutter have been ...

1986-01-01

Long-Term Follow-Up of Percutaneous Balloon Angioplasty in Adult Aortic Coarctation

Purpose: To report the detection of con-compacted ventricular myocardium (NVCM) with MRI compared to echocardiography in 8 patients. Material and methods: Non-compaction of the ventricular myocardium is a congenital disorder characterized by an altered structure of the myocardial wall resulting from an intrauterine arrest in endomyocardial embryogenesis. The morphological findings consist of a prominent meshwork of multiple myocardial trabeculations and deep intertrabecular recesses, communicating with the left ventricular cavity. 8 consecutive patients (mean age 7.3 years) with clinical and echocardiographic signs of NCVM were examined by MRI (1.5 T, Vision, Siemens) in short axis and 2- and 4-chamber views, using T_1-weighted TSE and Cine-GRE in 6 patients and true FISP sequences in 2 patients. MRI and echocardiography were evaluated for visibility, signs of NCVM and involvement of myocardial wall segments. Thickness was measured for non-compacted and compacted ...

2003-09-01

Four years of North American registry home parenteral nutrition outcome data and their implications for patient management

Purpose: To assess long-term outcomes following percutaneous transluminal angioplasty (PTA) of congenital aortic coarctation in adults.Methods: Seventeen patients underwent PTA for symptomatic adult coarctation of the aorta. Sixteen patients, with a mean age of 28 years (range 15-60 years), were reviewed at a mean interval after angioplasty of 7.3 years (range 1.5-11 years). Assessment included magnetic resonance imaging (MRI), Doppler echocardiography, and clinical examination. Current clinical measurements were compared with pre- and immediate post-angioplasty measurements.Results: At follow-up 16 patients were alive and well. The patient not included in follow-up had undergone surgical repair and excision of the coarctation segment following PTA. Mean brachial systolic blood pressure for the group decreased from 174 mmHg before angioplasty to 130 mmHg at follow-up (p 0.0001). The mean gradient had fallen significantly from 50.9 to 17.8 at follow-up (p = 0.001). ...

2000-09-01

Corrected transposition of the great arteries

The OASIS Registry started annual collection of longitudinal data on patients on home parenteral nutrition (HPN) in 1984. This report describes outcome profiles on 1594 HPN patients in seven disease categories. Analysis showed clinical outcome was principally a reflection of the underlying diagnosis. Patients with Crohn's disease, ischemic bowel disease, motility disorders, radiation enteritis, and congenital bowel dysfunction all had a fairly long-term clinical outcome, whereas those with active cancer and acquired immunodeficiency syndrome (AIDS) had a short-term outcome. The long-term group had a 3-year survival rate of 65 to 80%, they averaged 2.6 complications requiring hospitalization per year, and 49% experienced complete rehabilitation. The short-term group had a mean survival of 6 months; they averaged 4.6 complications per year and about 15% experienced complete rehabilitation. The registry data also indicated HPN was used for 19,700 patients in 1987 with ...

Case report: Denys- Drash syndrome.

The corrected transposition of the great arteries is an usual congenital cardiac malformation, which consists of transposition of great arteries and ventricular inversion, and which is caused by abnormal development of conotruncus and ventricular looping. High frequency of associated cardiac malformations makes it difficult to get accurate morphologic diagnosis. A total of 18 cases of corrected transposition of the great arteries is presented, in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between September 1976 and June 1981. The clinical, radiographic, and operative findings with the emphasis on the angiocardiographic findings were analyzed. The results are as follows: 1. Among 18 cases, 13 cases have normal cardiac position, 2 cases have dextrocardia with situs solitus, 2 cases have dextrocardia with situs inversus and 1 case has levocardia with situs inversus. 2. Segmental sets ...

1981-12-01

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome

BACKGROUND: Denys-Drash Syndrome (DDS) is an uncommon disorder that appears sporadically and in rare cases may be inherited as an autosomal dominant trait It manifests either at birth or within the first year of life and typically consists of the triad of congenital nephropathy, Wilms tumour and intersex disorder. CASE REPORT: A 10 year-old Caucasian girl was referred to the Dental Department, at Glasgow Royal Hospital for Sick Children by her Paediatric Nephrologist Consultant. The patient was being teased by her peers over her markedly discoloured teeth. The dental history revealed that the patient was a regular dental attendee from an early age. She was dentally anxious having only experienced dental treatment under general anaesthesia (GA) when she was 4 years old. Apparently her primary dentition also showed a generalised discolouration. TREATMENT: This consisted of multiple visits for diet analysis and tooth brushing instruction with the use of disclosing ...

2007-12-01

A radiologic analysis and comparative evaluation of hysterosalpingographic and laparoscopic findings in infertile patients

ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and localization at ...

2011-07-19

MRI in the diagnosis of non-compacted ventricular Myocardium (NCVM) compared to echocardiography; MR-Tomographie in der morphologischen Darstellung der isolierten non-compaction des linksventrikulaeren Myokards (NCVM)

Hystreosalpingogram of 375 patients with infertility were reviewed with reference to radiological feature of each pathology and a comparative study of hysterosalpingography and laparoscopy in 36 patients was presented. This results were as follows;1. In 375 cases of infertility, 191 cases (50.9%) were primary infertility and 181 cases (49.1%) were secondary infertility. 2. The peak age distribution was 26 to 30 year old group in 211 cases (56.3%), and the peak duration of infertility was less than 3 years in 256 cases (68.3%). 3. Abnormal uterine findings were 115 cases (30.7%) and there were 73 cases of filling defects, 13 cases of irregularity, 12 cases of uterine flexion, 11 cases of congenital anomaly, and 9 cases of hypoplasia among them. 4. Abnormal tubal findings were 196 cases (52.3%) and there were 103 cases of simple obstruction, 69 cases of hydrosalpinx, and 50 cases of peritubal adhesion among them. 5. Intravasation of contrast media was noted in 42 ...

1984-09-15