Search results for "abnormality"
showing 10 items of 62 documents
Lip and oral lesions in children with Down syndrome. A controlled study
2015
Background: Down syndrome (DS) is the most common chromosomal abnormality affecting numerous organs, including the orofacial region. The objective of the present study was to assess the prevalence of lip and oral soft tissue lesions, with particular emphasize on the incidence of fissured tongue, lip fissures and angular cheilitis, among individuals with DS in Yemen. Material and Methods: This controlled cross-sectional study included 50 children with DS (6-18 years), and 50 age- and gender-matched healthy controls. The prevalence of orofacial soft tissue lesions was evaluated in both groups. Data were analyzed by Chi-square and Fisher tests, and p <0.05 was considered to be statistically si…
SWALLOWING, SPEECH AND OROFACIAL DISORDERS IN CHILDREN WITH ADENOTONSILLAR HYPERTROPHY
2022
A prospective observational study was conducted to evaluate the presence of swallowing, speech and orofacial muscle imbalance (OMI) disorders in patients with adenotonsillar hypertrophy and their regression after surgery. ENT, speech therapist and dentistry examination were conducted before and 12 months after surgery in 78 children between the ages of 2 and 12 with dysphagia, speech disorders and OMI adenotonsillar hypertrophy related with sleep-disordered breathing. Of the 78 patients enrolled, 62 underwent adenotonsillectomy, 9 adenoidectomy and 7 volume reduction of the palatine tonsils with a 12-month post-operative increase in SWAL-QOL score, weight gain, correction of ogival palate, …
Application of transvaginal and abdominal three-dimensional ultrasound for the detection or exclusion of malformations of the fetal face
1997
In a total of 618 pregnant women between 9 and 37 weeks' gestation, the fetal face was evaluated by two-dimensional and three-dimensional ultrasound imaging as part of a level III screening evaluation for fetal anomalies. A three-dimensional endovaginal probe (5 MHz) was used for examinations at between 9 and 15 weeks, and an abdominal three-dimensional probe (3.5 MHz) was used after 15 weeks. Three different three-dimensional image display modes were employed: (1) the orthogonal display; (2) the surface display; and (3) the transparent display. When we studied the three-dimensional orthogonal displays in 125 cases evaluated by abdominal ultrasound, we found that the facial profile shown in…
Kraniometrische Merkmale bei unterschiedlichen Anomalien
1972
Die vorangegangenen Ausfuhrungen verfolgten das Ziel, die Frage aufzuhellen, ob fur Anomalien des Kieferbereiches eine weitgehende Unabhangigkeit vom Aufbau des Gesichtsschadels besteht. Zu diesem Zweck wurden je 10 Fernrontgen-Profilaufnahmen von 5 typischen Anomaliegruppen ausgewahlt und im Hinblick auf die Fragestellung ausgewertet. Das mit Hilfe biostatistischer Verfahren gewonnene Ergebnis gibt zu erkennen, das keine der gewahlten Variablen des Gesichtsschadels eine spezifische Zuordnung zu einer bestimmten Anomaliegruppe ermoglichte. Zwischen kraniometrischen Merkmalen und Gebisanomalien bestehen demnach keine engeren Beziehungen.
Moderate ovarian stimulation does not increase the incidence of human embryo chromosomal abnormalities in in vitro fertilization cycles.
2012
A high chromosomal abnormalities rate has been observed in human embryos derived from in vitro fertilization (IVF) treatments. The real incidence in natural cycles has been poorly studied, so whether this frequency may be induced by external factors, such as use of gonadotropins for ovarian stimulation, remains unknown.We conducted a prospective cohort study in a University-affiliated private infertility clinic with a comparison between unstimulated and stimulated ovarian cycles in the same women. Preimplantation genetic screening by fluorescence in situ hybridization was performed in all viable d 3 embryos.The primary objective was to compare the incidence of embryo chromosomal abnormaliti…
MRI abnormalities following repeated and incoming seizures.
2010
Abstract Neuroimaging, an important diagnostic tool frequently used in the evaluation of patients with epilepsy, has mainly the aim to identify structural abnormalities needing a treatment and to contribute to the definition of the aetiology. Brain magnetic resonance imaging (MRI) in epilepsy is more sensitive than computerized tomography (CT) scan for detecting abnormalities. Status epilepticus (SE) and repeated incoming seizures may determine extensive and transient or long lasting pronounced MRI changes. We describe a case of a 41-year-old woman with a history of brain neoplasm, whose contrast-enhanced MRI images following repeated and incoming seizures were characterized either by rever…
The bite force and craniofacial morphology in patients with acromegaly: A pilot study
2013
Objectives: Acromegaly is a metabolic disorder caused by increased growth hormone secretion. As a consequence of acromegaly some typical craniofacial morphology changes appear. This pilot study was conducted to compare the bite force and the characteristic size and shape of the craniofacial components of acromegalic patients with the healthy Turkish individuals. In additon, the correlations between bite force and craniofacial morphology of patients with acromegaly and control individuals were evaluated. Study Design: The maximum bite force of the participants was recorded with strain-gage transducer. Lateral xray scans were made under standard conditions, in centric occlusion. On cephalogra…
Giant axonal neuropathy and leukodystrophy
1991
Abstract An 11-year-old Persian boy, born to consanguineous parents, manifested a progressive gait abnormality beginning at 5 years of age. A severe cerebellar disorder developed with associated dysfunction of the peripheral nervous system, but no sign of mental impairment. The sensory and motor nerve conduction velocities were greatly reduced, especially in the lower extremities. Cerebrospinal fluid protein was normal. Computed tomography and magnetic resonance imaging revealed leukoencephalopathy, especially in the cerebellum, but also in periventricular areas. The diagnosis of giant axonal neuropathy was established by biopsy of the sural nerve. The few previous histologic examinations h…
Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases
2015
International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…
Mathematical models for the diffusion magnetic resonance signal abnormality in patients with prion diseases
2014
In clinical practice signal hyperintensity in the cortex and/or in the striatum on magnetic resonance (MR) diffusion-weighted images (DWIs) is a marker of sporadic Creutzfeldt–Jakob Disease (sCJD). MR diagnostic accuracy is greater than 90%, but the biophysical mechanisms underpinning the signal abnormality are unknown. The aim of this prospective study is to combine an advanced DWI protocol with new mathematical models of the microstructural changes occurring in prion disease patients to investigate the cause of MR signal alterations. This underpins the later development of more sensitive and specific image-based biomarkers. DWI data with a wide a range of echo times and diffusion weightin…