Search results for "Normal"
showing 10 items of 2571 documents
3-D ultrasound in prenatal diagnosis
1999
Abstract 2-D ultrasonography has evolved into an excellent technique in prenatal diagnosis during the past 40 years. The fact remains, however, that 2-D ultrasonography is marked by a lack of ability to provide more than a 2-D demonstration of a 3-D fetus. Although many fetal anomalies are detectable by conventional 2-D ultrasound, it is impossible to demonstrate a defect in the third dimension. 3-D sonography not only offers the third plane, but it also provides the examiner with different viewing modes: the multiplanar, the surface and the transparent demonstration of the fetus. The different viewing modes not only improve the accuracy in detecting fetal malformations, but also serve to d…
Ultrasonography and gastric emptying: evaluation in infants with gastroesophageal reflux.
1992
We have applied ultrasonography to the evaluation of gastric emptying in children. Two different populations have been investigated: normal children and children with gastroesophageal reflux. All the patients were less than 6 months of age. The diagnosis of gastroesophageal reflux was defined by 24-h pH measurement. The technique, used to measure gastric emptying, is the one described by Bolondi et al. In this research we used the simplified method. All children had been submitted to the examination after 4-h fasting. The standard meal was the usual milk formula, 300 ml/m2 body surface area (BSA). A cross-section area of the gastric antrum was determined before a meal and every 15 min for 2…
Normal-weight obesity and cardiometabolic risk: A 7-year longitudinal study in girls from prepuberty to early adulthood
2017
Objective To study whether normal-weight obesity in childhood is associated with increased cardiometabolic risk in early adulthood. Methods This study assessed data for 236 girls followed from prepuberty to early adulthood. Growth chart data were obtained from birth to 18 years. Body composition was assessed by dual-energy x-ray absorptiometry and cardiometabolic risk by calculating continuous clustered risk score (at ages 11, 14, and 18). The association of body weight status with cardiometabolic risk from childhood to early adulthood was examined. Results Subjects with normal-weight obesity were virtually indistinguishable from their normal-weight lean peers in terms of relative body weig…
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
2011
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia,…
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
2009
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …
Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.
1998
A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a pe…
The clinical relevance of non-classified dysganglionoses and implications for a new grading system
2001
In addition to the classified types of dysganglionosis, certain non-classified dysganglionoses (NCD) (types 1-4) were introduced by Meier-Ruge in 1992. Clinical data on these conditions are limited. Among 134 children with intestinal dysganglionoses (ID) treated from 1979 to 1999, 12 were identified to have a NCD. Their clinical course is presented. The existence of mild ID (type 1) is difficult to demonstrate. Current definitions and data on clinical relevance are not convincing. An indication for surgical treatment is not present. Isolated hypogenesis of the submucous plexus (SMP) (type 2, n = 8) is clinically a more severe kind of intestinal neuronal dysplasia type B and often requires e…
Optical Coherence Tomography Characterization of Macular Changes Secondary to Arteriovenous Fistula
2017
Arteriovenous fistulas (AVFs) are abnormal shunts between the arterial and venous vascular systems. These usually produce ocular pain, increased intraocular pressure (IOP), and diplopia. Less frequently, they may cause retinal changes with visual impairment. Our purpose is to illustrate different retinal manifestations of AVF. We report the multimodal imaging study of three cases with retinal changes due to AVF, showing neurosensory retinal detachment, macular oedema, and macular ischemia. In conclusion, AVF may appear with different ophthalmic alterations. While usually increased IOP and diplopia are our main concerns, retinal study is mandatory, since a myriad of morphologic abnormalities…
Oral findings in Midline Syndrome: a case report and literature review
2010
We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital con…
Characteristics of mucocutaneous vascular malformations drawn from a decade of a multidisciplinary committee experience.
2021
Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over previous years may hamper a correct diagnosis. The main objective of this study is to describe VM epidemiology. As a secondary endpoint we evaluate clinical characteristics, clinical-radiological correlation and treatment approaches. We carried out an observational, descriptive, retrospective study. Cases presented to the multidisciplinary committee of our h…