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Biomedical subjects

A Levitas

Publications and source records attributed to A Levitas.

18 recordsLinked to original sources
PubMed2004

Prenatal diagnosis of Shone's syndrome: parental counseling and clinical outcome.

OBJECTIVE: To describe a series of fetuses diagnosed as having Shone's syndrome, which includes four cardiac defects and for which there is a wide variety of clinical presentations, surgical treatments and outcomes, and to discuss the counseling strategy. METHODS: We reviewed retrospectively the records of four babies who were suspected prenatally to have Shone's syndrome. RESULTS: The mean age at diagnosis was 27.5 (range, 22-35) weeks. A small left ventricle, mitral and aortic annulus and ascending aorta were detected in three cases. In three fetuses there was an abnormal mitral valve apparatus and in two fetuses a sub-aortic membrane was detected. Coarctation of the aorta was an impending diagnosis in three babies. Following counseling, all parents decided to continue the pregnancy to term. Echocardiographic evaluation was performed soon after birth. The mean mitral valve annulus diameter was 8.2 (range, 7-10) mm, and that of the aortic valve annulus was 6 (range, 5-7) mm. The aortic valve was bicuspid in all babies with an additional sub-aortic membrane in two babies. Doppler ultrasound examination revealed high-velocity flow through the mitral valve in three babies; two of them had a parachute mitral valve. Coarctation repair was performed in two babies during the first week of life. One patient underwent mitral valvuloplasty followed by later mitral valve replacement. All patients were alive after a mean of 7.8 (range, 3.3-10.5) years' follow-up. CONCLUSION: When counseling families regarding fetal Shone's syndrome, it is important to emphasize the wide variety of clinical presentations and possible outcomes. Differentiation between hypoplastic left ventricle and Shone's complex is crucial and may influence the physician's attitude, the presentation of the case to the family and the family's final decision.

Counseling↗
PubMed2001

The role of tissue plasminogen activator in the successful treatment of infected cardiac thrombus in children.

Infected cardiac thrombus is rare in children, with antibiotic or antifungal agents used as the first line of treatment. Persistence is an indication for surgical intervention. We describe two children who were treated successfully with a combination of antibiotic and antithrombotic agents. Use of antithrombotic agents promotes degeneration of fibrin, thus reducing the mass and facilitating the diffusion of the antibiotic and/or antifungal agents.

Anti-Bacterial Agents↗
PubMed2001

[Intraventricular hemorrhage in full-term neonates].

Intraventricular hemorrhage in full-term neonates is rare; it may develop without any clinical signs. Its cause is not fully understood although some risk factors have been identified. A higher index of suspicion would ensure earlier diagnosis and treatment, which might reduce the rate of severe complications. We describe 2 cases in full-term neonates.

Cerebral Hemorrhage↗
PubMed2000

Successful non-surgical treatment of Candida tropicalis endocarditis with liposomal amphotericin-B (AmBisome).

Fungal endocarditis in children is most commonly a complication of palliative or curative surgery for congenital heart disease, rheumatic valvulitis and prolonged indwelling central venous and umbilical catheters. We describe here the case of a 3-y-old patient with chronic diarrhoea and prolonged total parenteral alimentation who developed severe C. tropicalis endocarditis and was treated successfully using a liposomal preparation of amphotericin-B (AmBisome) without surgical intervention.

Amphotericin B↗
PubMed2000

Fragile X syndrome.

Explore the source record for details and available documents.

Fragile X Syndrome↗
PubMed1997

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region in RTS patients led us to screen a large cohort of affected subjects using the RT1 probe. Among 64 patients with clinical evidence of RTS, seven (11%) had a deletion. Another patient had a translocation of the region without evidence of a deletion. The features of coloboma, growth retardation, naevus flammeus, and hypotonia have a positive predictive value for the presence of an RT1 deletion. Because of the relatively low frequency of deletions in RTS, the RT1 probe is useful in diagnostic confirmation, but has limited use as a screening tool.

Adolescent↗
PubMed1996

Neuropsychiatric Aspects of Fragile X Syndrome.

Fragile X Syndrome (FXS) is an important cause of both mental retardation and neuropsychiatric disorders, producing its effects by a novel genetic mechanism. Complexities of interacting variables: intelligence quotient (IQ), subject age, limitations of neuropsychiatric testing modalities on the one hand, and the complex genetic mechanism on the other, render exact correspondences between genetic, neural, and neuropsychiatric variables problematic. Nevertheless, current research trends show a convergence of genetic, embryologic, neurocognitive, and neurobehavioral studies on an understanding of pathogenesis centered on the protein product of FMR1, FMRP, with a spectrum of neurocognitive and neuropsychiatric dysfunctions and deficits in turn depending upon tissue mosaicism and other factors determining FMRP production in critical tissues. The resulting neurobehavioral phenotype includes deficits in short-term memory, sequential information processing and visual/spatial abilities, pragmatic language abnormalities, dysfunctional social behavior with peers (gaze-avoidance, aloofness), unusual responses to sensory stimuli, and stereotypy. The proposed psychiatric phenotype now includes attention-deficit hpyeractivity disorder (ADHD), avoidant disorder, pervasive developmental disorders, anziety disorders, mood disorders, and schizotypal personality disorder.

Journal Article↗
PubMed1996

Status epilepticus following intravenous N-acetylcysteine therapy.

A previously healthy 2 1/2-year-old girl developed status epilepticus followed by cortical blindness during intravenous N-acetylcysteine therapy for paracetamol ingestion. The child's vision was almost completely recovered during the 18 months follow-up period. We assume that the cortical blindness was a postictal sequela after prolonged seizure episode, most probably due to respiratory depression induced by N-acetylcysteine.

Acetaminophen↗
PubMed1992

[Rheumatic fever among children in the Negev].

Between 1977-1989, 143 children with acute rheumatic fever were hospitalized here. In contrast to western countries, there has been no decline in the absolute number of hospitalizations for this disease here. A high prevalence of rheumatic fever was found among Bedouins and non-Ashkenazi Jews (2.5 and 1.5 times greater than the expected incidence, respectively). The affected children were usually from large families and lived in crowded conditions. Recurrences of rheumatic fever were more frequent among girls, and they were affected at an older age. The manifestations, in order of frequency, were arthritis, carditis and chorea. Chorea was found only among girls.

Acute Disease↗
PubMed1990

Developmental and family effects of autism.

Autistic disorder is a developmental disorder, the course of which grows out of the interaction of a chronic brain syndrome with the changes of maturation and development and a patchwork of habilitative programs. Definitive intervention awaits better definition through neuroanatomic and neurobehavioral studies. Investigation of known etiologies, referral for and coordination of habilitative services, and ongoing partnership with the family remain the mainstays of management of this challenging disorder.

Autistic Disorder↗
PubMed1986

Autism, mental retardation, and chromosomal abnormalities.

There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.

Adolescent↗
PubMed1983

Autism and the fragile X syndrome.

Ten patients with the fragile X syndrome were diagnosed at the Child Development Unit in 1982. Six of these patients are autistic and demonstrate similar profiles on three evaluations designed to measure the severity of autism. The similarities of these six autistic patients are described in depth.

Adolescent↗
PubMedDate not supplied

Oral folic acid versus placebo in the treatment of males with the fragile X syndrome.

A double-blind, crossover study of a 10 mg folic acid per day (vs. placebo) treatment was carried out in 25 fra(X) males (ages 1-31 years). Each treatment period lasted 6 months. Before, during and after the study, the patients were assessed blindly with psychological, language and behavioral evaluations, and parent or caretaker reports were collected. Standardized testing did not show statistically significant changes in the group as a whole; psychological testing demonstrated a statistically significant improvement on folic acid in the prepubertal males. After uncoding, caretaker or parent reports also demonstrated behavioral improvements in the prepubertal males while being treated with folic acid.

Administration, Oral↗
PubMedDate not supplied

An analysis of autism in fifty males with the fragile X syndrome.

Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.

Adolescent↗