idiopathic adulthood ductopenia: Topics by WorldWideScience.org

Idiopathic (primary) achalasia

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

Effect of Supplementation with Docosahexaenoic Acid from Gestation to Adulthood on Spatial Learning Performance in Rat

Idiopathic achalasia is a primary esophageal motor disorder characterized by esophageal aperistalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare...Full Text Available

KoreaScience (Korea)

Full Text Available

2007-10-01

Undiagnosed osteoid osteoma of the spine presenting as painful scoliosis from adolescence to adulthood: a case report

Ultrasonography and color Doppler of proximal gluteal enthesitis in juvenile idiopathic arthritis: a descriptive study

Presented here is a case of a young woman, with an undiagnosed osteoid osteoma of the spine, which presented with painful scoliosis in adolescence and was treated by bracing until her accession to adulthood....Full Text Available

The use of etoricoxib to treat an idiopathic stabbing headache: a case report

BackgroundThe presence of enthesitis (insertional inflammation) in patients with juvenile idiopathic arthritis (JIA) is difficult to establish clinically and may influence classification...Full Text Available

Immature cell populations and an erythropoiesis gene-expression signature in systemic juvenile idiopathic arthritis: implications for pathogenesis

According to the International Headache Society, idiopathic stabbing headache (ISH), an indomethacin-responsive headache syndrome, is a paroxysmal disorder of short duration manifested as head pain...Full Text Available

Idiopathic venous thromboembolism and thrombophilia

IntroductionPrevious observations suggest that active systemic juvenile idiopathic arthritis (sJIA) is associated with a prominent erythropoiesis gene-expression signature. The aim...Full Text Available

2010-01-01

Combined photodynamic therapy and intravitreal bevacizumab for idiopathic polypoidal choroidal vasculopathy: one-year follow-up

During the past decade idiopathic venous thromboembolism has become a separate entity, a chronic illness which has required prolonged anticoagulation and other prevention strategies to avoid recurrences....Full Text Available

2011-02-15

Abnormalities of GATA-1 in Megakaryocytes from Patients with Idiopathic Myelofibrosis

ObjectiveTo report the efficacy and safety of combined photodynamic therapy (PDT) and intravitreal bevacizumab (IVB) injection in the treatment of idiopathic polypoidal choroidal...Full Text Available

2010-01-01

Current Status of Cognitive Behavioral Therapy for Adult Attention-Deficit Hyperactivity Disorder

The abnormal megakaryocytopoiesis associated with idiopathic myelofibrosis (IM) plays a role in its pathogenesis. Because mice with defective expression of transcription factor GATA-1 (GATA-1^low...Full Text Available

2005-09-01

Pulmonary vein ablation for idiopathic atrial fibrillation: six month outcome of first procedure in 100 consecutive patients

SynopsisAttention-deficit / hyperactivity disorder (ADHD) is a valid and impairing psychological disorder that persists into adulthood in a majority of cases and is associated...Full Text Available

2010-09-01

The neurobiology of social attachment: A comparative approach to behavioral, neuroanatomical, and neurochemical studies*

Objectives: To report six month outcome in patients undergoing their first pulmonary vein ablation procedure for idiopathic atrial fibrillation (AF) at a “non-pioneering”...Full Text Available

2005-01-01

Sunbed use during adolescence and early adulthood is associated with increased risk of early-onset melanoma

The formation and maintenance of social bonds in adulthood is an essential component of human health. However studies investigating the underlying neurobiology of such behaviors have been scarce....Full Text Available

2008-11-01

Safety Nets and Scaffolds: Parental Support in the Transition to Adulthood

Sunbed use is associated with increased risk of melanoma. Younger people might be more susceptible to the carcinogenic effects of ultraviolet radiation. We investigated the association between...Full Text Available

2011-05-01

Rapid Action on Neuroplasticity Precedes Behavioral Activation by Testosterone

Using longitudinal data from the Youth Development Study (analytic sample N = 712), we investigate how age, adult role acquisition and attainments, family resources, parent-child relationship...Full Text Available

2011-04-01

Positional Stretching of the Coracohumeral Ligament on a Patient with Adhesive Capsulitis: A Case Report

Testosterone has been shown to increase the volume of steroid-sensitive brain nuclei in adulthood in several vertebrate species. In male Japanese quail the volume of the male-biased sexually...Full Text Available

2008-09-01

Paradoxical function for the receptor for advanced glycation end products in mouse models of pulmonary fibrosis

Idiopathic frozen shoulder is a common medical diagnosis for patients seeking physical therapy. Radiographic and surgical evidence exists that describes the coracohumeral ligament (CHL) as a major contributor...Full Text Available

2009-01-01

Myelination of the corpus callosum in male and female rats following complex environment housing during adulthood

Idiopathic pulmonary fibrosis (IPF) is a progressive disease with poor survival. The identification of therapeutic targets is essential to improving outcomes. Previous studies found that expression...Full Text Available

2011-03-31

Moderate Caloric Restriction during Gestation in Rats Alters Adipose Tissue Sympathetic Innervation and Later Adiposity in Offspring

Myelination is an important process in brain development, and delays or abnormalities in this process have been associated with a number of conditions including autism, developmental delay,...Full Text Available

2009-09-08

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Learning an Operant Conditioning Task Differentially Induces Gliogenesis in the Medial Prefrontal Cortex and Neurogenesis in the Hippocampus

Maternal prenatal undernutrition predisposes offspring to higher adiposity in adulthood. Mechanisms involved in these programming effects, apart from those described in central nervous system development,...Full Text Available

Latent transition models with latent class predictors: attention deficit hyperactivity disorder subtypes and high school marijuana use

Circuit modification associated with learning and memory involves multiple events, including the addition and remotion of newborn cells trough adulthood. Adult neurogenesis and gliogenesis were mainly...Full Text Available

Infant Milk Feeding Influences Adult Bone Health: A Prospective Study from Birth to 32 Years

SummaryAttention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder which is most often diagnosed in childhood with symptoms often persisting into adulthood....Full Text Available

2010-01-01

Increased wind-up to heat pain in women with a childhood history of functional abdominal pain

BackgroundPeak bone mass, attained by early adulthood, is influenced by genetic and life-style factors. Early infant feeding and duration of breastfeeding in particular, associate...Full Text Available

Effect of neonatal exposure to estrogenic compounds on development of the excurrent ducts of the rat testis through puberty to adulthood.

Idiopathic or functional abdominal pain (FAP) is common in school-age children and typically reflects a functional gastrointestinal disorder (FGID). FGIDs in adults have been distinguished by...Full Text Available

2011-04-01

Disability and Psychologic Distress in Patients with Nonspecific and Specific Arm Pain

Neonatal exposure to diethylstilbestrol (DES) can alter the structure of the testicular excurrent ducts in rats. We characterized these changes according to dose and time posttreatment and established...Full Text Available

1999-05-01

Characteristics of chronic non-specific musculoskeletal pain in children and adolescents attending a rheumatology outpatients clinic: a cross-sectional study

Psychological illness influences the experience and expression of pain and disability. We tested three null hypotheses: (1) patients with nonspecific pain (medically unexplained and idiopathic) and...Full Text Available

2008-11-01

Castration and training in a spatial task alter the number of immature neurons in the hippocampus of male mice

BackgroundChronic non-specific musculoskeletal pain (CNSMSP) may develop in childhood and adolescence, leading to disability and reduced quality of life that continues into adulthood....Full Text Available

Antioxidant Treatment Alters Peripheral Vascular Dysfunction Induced by Postnatal Glucocorticoid Therapy in Rats

New neurons are generated in the granule cell layer of the dentate gyrus (GCL) throughout adulthood. This process is modulated by many environmental and neurochemical factors. We previously...Full Text Available

2010-05-06

Adult-born hippocampal neurons are more numerous, faster-maturing and more involved in behavior in rats than in mice

BackgroundPostnatal glucocorticoid therapy in premature infants diminishes chronic lung disease, but it also increases the risk of hypertension in adulthood. Since glucocorticoid...Full Text Available

Sex-specific influence of exposure to bisphenol-A between adolescence and young adulthood on mouse behaviors

Neurons are born throughout adulthood in the hippocampus and show enhanced plasticity compared to mature neurons. However, there are conflicting reports on whether or not young neurons contribute...Full Text Available

2009-11-18

British Library Electronic Table of Contents (United Kingdom)

Bisphenol-A (BPA) is one of the most common environmental endocrine disrupters and has a wide range of effects on central nervous system. Adolescence is another important developmental period besides the early critical prenatal and neonatal periods. In the present study, we exposed mice to BPA (40, 400 mg/kg/d) between adolescence and young adulthood for 8 weeks and investigated its effects on the non-reproductive behaviors. In open field tests, rearing and grooming sex differences were abolished by BPA exposure. In the elevated plus maze test, the number of open arm entries, the time spent in open arms, and the number of unprotected head dips in the center area were reduced in males but increased in females by BPA at 40 or 400 mg/kg/d, thus eliminating or reversing sex differences in thes...

2011-01-01

Pirfenidone in idiopathic pulmonary fibrosis: the CAPACITY program

British Library Electronic Table of Contents (United Kingdom)

Idiopathic pulmonary fibrosis is the most lethal form of diffuse lung fibrosis, killing approximately half of those affected within 2-3 years of diagnosis. Until recently, no therapies had been shown to have an impact on disease progression. The Clinical Studies Assessing Pirfenidone (Esbriet) in IPF: Research of Efficacy and Safety Outcomes (CAPACITY) program comprised two almost identical double-blind placebo-controlled studies assessing the effects of pirfenidone on change in forced vital capacity, the primary end point, over a 72-week period. One of these studies was positive, matching in magnitude the benefit seen in two previous positive Japanese studies. The other study did not meet its primary end point but positive trends were consistent in this and a number of secondary end point...

2011-01-01

Preoperative factors predictive of postoperative decimal visual acuity ? 1.0 following surgical treatment for idiopathic epiretinal membrane

An evaluation of the utility of routine laboratory monitoring of juvenile idiopathic arthritis (JIA) patients using non-steroidal anti-inflammatory drugs (NSAIDs): a retrospective review

Purpose:To report the preoperative best-corrected visual acuity (BCVA) and foveal thickness (FT) values that lead to a postoperative decimal BCVA of ≥1.0 after surgical removal...Full Text Available

2011-01-01

An activated renin-angiotensin system maintains normal blood pressure in aryl hydrocarbon receptor heterozygous mice but not in null mice

BackgroundNo consensus evidence-based guidelines for the routine laboratory monitoring of children with JIA receiving non-steroidal anti-inflammatory drugs (NSAIDs) exist. The purpose...Full Text Available

Visualization of growth factor receptor sites in rat forebrain

It has been postulated that fetal vascular abnormalities in aryl hydrocarbon receptor null (ahr^−/−) mice may alter cardiovascular homeostasis in adulthood....Full Text Available

2010-07-15

Use of sodium chromate Cr/sub 51/ in diagnosing childhood idiopathic pulmonary hemosiderosis

It is now known that various growth factors may also act in the central nervous system. Among them, it has recently been shown that epidermal growth factor (EGF) and insulin-like growth factor I (IGF-I) may possess trophic effects in the mammalian brain. We report here on the respective autoradiographic distribution of ["1"2"5I]EGF and ["1"2"5I]IGF-I receptor binding sites in the rat brain, both during ontogeny and in adulthood. It appears that ["1"2"5I]EGF sites are mostly found in the rat forebrain during brain development. On the other hand, ["1"2"5I]IGF-I sites are more widely distributed both during ontogeny and in adulthood. These results reveal the plasticity of the expression of EGF and IGF-I receptor sites in the mammalian brain. This could be relevant for the respective role of these two growth factors in the development and maintenance of neuronal function.

Idiopathic renal hematuria in a military working dog.

The diagnosis of idiopathic pulmonary hemosiderosis (IPH) may be elusive. A 6-year-old boy had microcytic hypochromic anemia and a hemolytic component. Hemosiderin-laden macrophages were not found in the gastric aspirate. He had no pulmonary signs or symptoms. Extensive hematologic and roentgenologic investigations failed to reveal the cause of the anemia. Quantitative serial scintigraphic scanning showed significant (35%) pulmonary sequestration of autologous erythrocytes labeled with sodium chromate Cr51. The half-life of the RBCs was moderately decreased (half-life, 15 days; normal, 25 to 35 days). An open-lung biopsy spece Cr51. The half-life of the RBCs was moderately decreased (half-life, 15 days; normal, 25 to 35 days). An open-lung biopsy specimen confirmed the diagnosis of IPH. A diagnosis of IPH should be considered when children have iron deficiency anemia and pulmonary signs or symptoms. Organ sequestration studies may be helpful in equivocal cases.

1984-08-01

Depression among Alumni of Foster Care: Decreasing Rates through Improvement of Experiences in Care

A 1.5-year-old male Belgian Malinosis Military Working Dog presented with a 1-month history of intermittent hematuria. Diagnostic ultrasound and contrast radiography demonstrated large blood clots in the urinary bladder and a filling defect in the right renal pelvis. At surgery, clotted blood was present in the right ureter and bladder. Following right nephrectomy, the dog returned to training. One month later, elevations in urea nitrogen and creatinine were noted. Hematuria recurred at 3 months and the dog was found dead in its kennel. Necropsy showed a blood-filled left renal pelvis and ureter. PMID:1454185

1992-10-01

A lateral cephalometric study of the size of tongue and intermaxillary space in Korean

The Northwest Foster Care Alumni Study examined the relation between experiences in foster care and depression among young adults who spent at least a year in foster care as adolescents. Results indicate that preparation for leaving foster care, nurturing supports from the foster family, school stability, access to tutoring, access to therapeutic service and support, and a shorter and more stable placement history were associated with a lower probability of depression in young adulthood. Results provide evidence that suggest ways to improve practice to decrease rates of depression among alumni of care. (Contains 2 tables.)

2008-12-01

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[Pulmonary vascular manifestations in hereditary hemorrhagic telangiectasia].

A study was performed to investigate the size of tongue area and intermaxillary space area, and compare the sexual differences between normal Korean children and adults by introducing planimetric and linear analysis of the lateral cephalograms. The cephalograms were composed of 41 child male aged 10.8, 40 child female aged 10.5, 38 adult male aged 21.3 , and 40 adult female aged 20.8 respectively. In order to study and measure the intermaxillary space area, the following were selected, as reference items: occlusal plane, anterior intermaxillary space height, posterior intermaxillary space height, length of intermaxillary space. Among those reference items anterior intermaxillary space height and posterior intermaxillary space height were perpendicular to the maxillary plane. An index, (Anterior intermaxillary space height + posterior intermaxillary space height )/2 Length of intermaxillary space, was introduced for the calculation of intermaxillary space area. While the tongue area was ...

1977-11-01

Treatment of asymptomatic internal resorption of a maxillary premolar tooth in a military working dog.

Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) is a genetic disorder with autosomal dominance, variable penetrance, and an estimated prevalence of 1/10,000 inhabitants in France. Diagnosis is based on clinical criteria including epistaxis, telangiectasia, visceral manifestations, and familial occurrence. Pulmonary arteriovenous malformations, present in 15-33% of patients, are its primary visceral complications. The disease may be revealed by infectious and ischemic neurological manifestations due to paradoxical embolism. The high frequency of neurologic complications even in asymptomatic patients justifies systematic screening for pulmonary arteriovenous malformations. Treatment of these malformations is based on percutaneous transcatheter coil embolization of the feeding artery. Pulmonary arterial hypertension is rare in this disease. It may be due to systemic arteriovenous shunting in the liver, which increases cardiac output, or be similar to ...

2005-11-01

The use of peritoneal venous shunting for intractable neonatal ascites: a short case series

An asymptomatic pink discoloration of a maxillary right fourth premolar tooth was discovered during a routine oral examination on a 9 year-old Belgian Malinois dog. A radiolucent lesion was seen in the pulpal chamber on radiographic examination. The lesion had perforated the mesiobuccal root of the tooth. The primary differential diagnosis was idiopathic internal resorption. The tooth was treated by partial resection (removal of the mesiobuccal root and associated crown). A vital pulpotomy and amalgam restoration was performed on the remaining tooth structure. A follow-up 1 year later demonstrated a successful treatment outcome. The animal was asymptomatic and able to perform military duties. Clinical and radiographic signs of healing were evident and the tooth was functional. PMID:10518874

1998-12-01

British Library Electronic Table of Contents (United Kingdom)

Introduction: Intractable ascites in neonates has a varied etiology; and often, the cause is idiopathic. The management usually consists of observation, diuretics, paracentesis, albumin replacements, and self correction. However, in some cases, the above treatment remains unsuccessful. Results: We present 2 cases of intractable ascites causing metabolic abnormalities, severe protein and immunoglobulin loss, and respiratory compromise. Although the use of peritoneovenous shunts for intractable ascites has been reported previously, our cases differ in both technique and patient size. Our first patient is an ex-28-week premature, 1.4-kg infant with intractable ascites for which a peritoneal drain was initially placed. After 3 weeks and putting out nearly 300 mL of ascitic fluid daily, we plac...

2011-01-01

Mucosal Inflammation in Spondylarthritides: Past, Present, and Future

British Library Electronic Table of Contents (United Kingdom)

Spondylarthritides (SpA) and inflammatory bowel disease (IBD) are idiopathic, chronic inflammatory disorders. Although they are very distinct and well-defined entities, there is clinical and genetic evidence supporting some degree of overlap between the pathogenesis of the two. Subclinical gut inflammation is present in up to two thirds of all SpA patients and can evolve into IBD. This subclinical gut inflammation has been shown to be strongly associated with joint inflammation, providing a clue for a common pathophysiologic background. Despite extensive research progress in the field over the past few years, many questions remain unanswered. In this paper, we focus on the clinical, genetic, and pathophysiologic overlap of SpA and IBD. Furthermore, we discuss some of the targets that may i...

2011-01-01

Manganese Induces IGF-1 and Cyclooxygenase-2 Gene Expressions in the Basal Hypothalamus during Prepubertal Female Development

British Library Electronic Table of Contents (United Kingdom)

Precocious puberty is a significant child health problem, especially in girls, because 95% of cases are idiopathic. Our earlier studies demonstrated that low-dose levels of manganese (Mn) caused precocious puberty via stimulating the secretion of luteinizing hormone-releasing hormone (LHRH). Because glial-neuronal communications are important for the activation of LHRH secretion at puberty, we investigated the effects of prepubertal Mn exposure on specific glial-derived puberty-related genes known to affect neuronal LHRH release. Animals were supplemented with MnCl2 (10 mg/kg) or saline by gastric gavage from day 12 until day 22 or day 29, then decapitated, and brains removed. The site of LHRH release is the medial basal hypothalamus (MBH), and tissues from this area were analyzed by real-...

2011-01-01

An animal model of social instability stress in adolescence and risk for drugs of abuse

British Library Electronic Table of Contents (United Kingdom)

There is increasing evidence that adolescence, like early life, is a sensitive period in which ongoing brain development can be influenced by environmental factors. This review describes our use of social instability as a model of mild adolescent social stress, its effects on social interactions and on hypothalamic?pituitary?adrenal function over the course of the procedure and in response to new stressors. The effects of social instability are sex-specific, with qualitative differences between the sexes on HPA function over the course of the stressor procedure, and with greater effects in males on behaviour observed during the social instability and greater effects in females on behavioural responses to drugs of abuse into adulthood, long after the stress exposure. The results from invest...

2010-01-01

Assessment of chromosomal abnormalities in sperm of infertile men using sperm karyotyping and multicolour fluorescence in situ hybridization (FISH)

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

Individuals with male factor infertility resulting from idiopathic oligo-, astheno- or teratozoospermia are frequently offered IVF in an attempt to increase their chances of having a child. A concern remains whether these infertile males have an elevated risk of transmitting chromosomal abnormalities to their offspring. Sperm chromosomal complements from these men were assayed using the human sperm/hamster oocyte fusion system and fluorescence in situ hybridization (FISH) on sperm nuclei. For each of 5 infertile patients, 100 sperm karyotypes were analyzed and multicolour FISH analysis was performed on a minimum of 10,000 sperm nuclei for each chromosome-specific DNA probe for chromosomes 1 (pUC1.77), 12 (D12Z3), X (XC) and Y (DYZ3). As a group, the infertile patients showed increased frequencies of both numerical ({chi}{sup 2}=17.26, {proportional_to} <0.001) and total abnormalities ({chi}{sup 2}=7.78, {proportional_to} <0.01) relative to control donors when ...

1994-09-01

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

Immunoreactive somatostatin and. beta. -endorphin content in the brain of mature rats after neonatal exposure to propylthiouacil. [Propylthiouracil

DEFF Research Database (Denmark)

The contents of immunoreactive somatostatin (IR-SRIF) and ..beta..-endorphin (IR-..beta..-EP) in 12 brain regions were examined in rats exposed neonatally to propylthiouracil (PTU) through the mother's milk. Since the dose of PTU used in this study is lower than the usual dose employed to induce hypothyroidism, a milder form of neonatal hypothyroidism resulted. This conclusion is supported by the only mild subnormal growth of rats to adulthood and serum T/sub 4/ and T/sub 3/ concentrations in the normal range. Adult rats treated with PTU neonatally had significantly higher IR-SRIF contents in several brain regions compared to controls, whereas IR-..beta..-EP levels were not significantly different in most regions. The results indicate that even mild hypothyroidism during early postnatal development causes permanent impairment of brain function, which manifests itself in part by an altered brain content of IR-SRIF.

1982-01-01

Citrat og nyresten

Citrate is an important naturally occurring inhibitor of calcium stone formation in urine. Urinary citrate excretion was examined in 43 consecutive patients with recurrent idiopathic calcium nephrolithiasis and in 50 normal controls by a specific enzymatic technique. Hypocitraturia (<1.6 mmol/24h) was found in 14 (33%) stone formers compared to 6 (12%) normal controls (p = 0.03). Citrate excretion expressed as citrate-creatinine ratio in 24 hour urine samples was significantly lower in the stone formers than in the healthy controls (p = 0.03), and significantly lower in healthy men, compared to healthy females (p = 0.006). There was a great variability in urinary citrate levels in both groups, and a considerable overlap in the urinary citrate excretion between normal subjects and stone formers. Factors other than urinary citrate excretion must therefore be of importance in the pathophysiology of calcium stone formation. Citrate-calcium ratio in urine proved to ...

1993-01-01

Pituitary disease in childhood: utility of magnetic resonance; Patologia hipofisaria en la edad pediatrica: unidad de la resonance magnetica

Mapping of the human cone transducin {alpha} subunit (GNAT2) gene to 1p13 and mutation analysis in patients with Stargardt`s disease

To assess the utility of magnetic resonance (MR) imaging in the study of pediatric patients with clinical suspicion of pituitary disease. We studied 18 patients aged 7 to 18 years.Fifteen had hormonal disturbances, two presented amenorrhea and 1 complained of headache, fever and symptoms of polyuria and polydipsia. All the patients were examined using a Siemens SP 42 1-Tesla MRI scanner. Sagittal and coronal T1-weighted spin-echo images were obtained; in addition T2-weighted spin-echo or fast spin-echo imaging was performed in ten cases and intravenous gadolinium was administered in nine. We found 9 patients with hypothalamic-pituitary dysgenesis, 2 with germinoma, 2 cases of pituitary hemosiderosis in patients with thalassemia, 2 cases of microadenoma, one abscess, one case of idiopathic central diabetes insipidus and one of Langerhans cell histiocytosis. MR enabled us to assess pituitary structural alterations in children with hypothalamic-pituitary hormone ...

2000-07-01

Inherited partial direct duplication of 11q: First report and possible association with a midline developmental field defect

Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single ...

1994-09-01

HEALTH POLICY INTERVENTION IN SCHOOLS PROMOTE PHYSICAL ACTIVITIES AMONG THE PUPILS

A 36-year-old woman underwent amniocentesis for advanced maternal age. The fetal karyotype had an extra dark staining G band on the long arm of chromosome 11 with no other identifiable abnormalities. FISH studies using a chromosome 11 paint probe confirmed the origin of the extra band. The abnormality was identified as a partial duplication of 11q: 46,XX dir dup (11)(q13.5q21) or (q21q23.1). The specific duplicated band could not be identified with certainty. Detailed fetal sonograms were normal. Family studies revealed the identical duplication in the mother but normal karyotypes in both maternal grandparents. The mother had strabismus and a short tongue frenulum which required surgical correction. Menses occurred late in adolescence and complete development of secondary sexual characteristics was delayed until adulthood. An infertility evaluation revealed duplication of the uterus, cervix, and vagina. An evaluation for metorrhagia identified a pituitary adenoma ...

1994-09-01

DEFF Research Database (Denmark)

Now, more than ever, there are serious health concerns for obese and overweight children. Schools are the perfect setting for children to learn, and this influence can play an important role in preventing children from becoming obese and overweight. The study concerns the behaviors of Health Promoting School (HPS) according to a broad definition of HPS in World Health Organization (WHO), or dependent on schools own health promoting policies. The purpose of study research is to examine whether promoting physical activity among the children at schools in relation to a school health policy such as Food and Nutrition Policy (FNP). This was determined through the comparisons between the FNP based schools and non policy based schools. The study undertook surveys among school food coordinators in the selected Danish primary schools through a web-based questionnaire. The questions in the survey were more focused on physical activity in internal and external school environment. Schools provide ...

Disorders of brain development and phakomatosis

Biological Effects after Prenatal Irradiation

Full text: Disorders of brain development and phakomatosis are resulting from disturbed embryonic-foetal development One third of all major embryological anomalies involve CNS, and over 2000 different anomalies have been described. Anomalies of the brain often cause foetal and neonatal death, and mental and physical retardation in pediatric group. The majority of disorders of brain development and phakomatosis are idiopathic, and most of them are not hereditary or familial. Ultrasonography plays the important role in screening foetal and neonatal brain, but after closure of fontanels it is difficult to find the acoustic window. CT has limited contrast resolution, and disadvantage exposing infant to ionizing radiation. It is helpful to demonstrate the presence of calcifications. MR imaging has proved to be a diagnostic tool of major importance in children with disorders of brain development and phakomatosis. The excellent grey/white matter differentiation and ...

Assessment of bone formation and bone resorption in osteoporosis: a comparison between tetracycline-based iliac histomorphometry and whole body /sup 85/Sr kinetics

A Task Group of the International Commission on Radiological Protection (ICRP) has finished a report Biological Effects after Prenatal Irradiation (Embryo and Fetus) which has been approved by the Main Commission and Will be Published. Some new important scientific data shall be discussed in this contribution. During the preimplantation period lethality of the mammalian embryo is the dominating radiation effect. However, in mouse strains with genetic predispositions it has been shown that also malformations can be caused. This effect is genetically determined and its mechanisms is different from the induction of malformations during major organogenesis. Radiation exposures during this prenatal period leads ato an increase of genomic instability of cells in the normal appearing fetuses. These radiation effects can be transmitted to the next generation. A renewed analysis of individuals with severe mental retardation after exposures during the 8th to 15th week post conception in ...

The new WHO classification of brain tumors. Radiological aspects of 4 new tumor entities; Die revidierte WHO-Klassifikation der Hirntumoren. Radiologische Aspekte unter besonderer Beruecksichtigung von vier neuen Tumorentitaeten

Bone formation and resorption have been measured in patients with idiopathic osteoporosis by histomorphometry of 7.5-mm trephine biopsies and in the whole body by 85Sr radiotracer methodology and calcium balances. The studies were synchronized and most were preceded by double in vivo tetracycline labeling. Correlations between histological and kinetic bone formation indices were better when better when based on the extent of double tetracycline labels than on measurements of osteoid by visible light microscopy. Correction of the kinetic data for long-term exchange, using 5 months' serial whole body counting of retained 85Sr, improved the fit of the kinetic to the histological data. A statistical analysis of the measurement uncertainties showed that the residual scatter in the best correlations (between exchange-corrected bone formation rates and double-labeled osteoid surface indices) could be attributed to measurement imprecision alone. The ...

1987-12-01

Functional imaging of neurocognitive dysfunction in attention deficit hyperactivity disorder; Bildgebende Darstellung neurokognitiver Dysfunktionen bei der Aufmerksamkeitsdefizit-/Hyperaktivitaetsstoerung

Characterisation of the classification of brain tumours authorised by the WHO. Method of appraisal: This classification was revised and published in its second version. In the revision, some tumours were regrouped histogenetically and some tumour variants were added. Radiologically relevant changes of the classification include the differentiation of four new tumour entities that are easily distinguished by MR imaging. These four tumours belong to the group of childhood tumours or tumours occurring in early adulthood and are characterized by a good prognosis after extirpation. Results of appraisal: Central neurocytomas are small-cyst ventricular tumours associated with the foramen of Monroi and show moderate contrast enhancement. Infantile desmoplastic gangliogliomas/astrocytomas commonly consist of a solid tumour portion related to the leptomeninges with pronounced contrast enhancement and a typically very large cyst. Pleomorphic xanthostrocytomas are ...

1997-06-01