PubMed Health⌕ Search

Biomedical subjects

S M Pueschel

Publications and source records attributed to S M Pueschel.

At least 19 recordsLinked to original sources
PubMed2001

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is still limited. Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. Three of these were amino acid substitutions: 1569C-->T in exon 2 (R68C); 7093C-->T in exon 6 (T288M) and 7538G-->C in exon 8 (A384P). In addition, a single base-pair deletion was found in exon 5 (2833delC), predicted to result in a shift of the reading frame and a premature termination codon at position 263. Some differences with the GALK1 sequence deposited in Genbank are also reported.

Adolescent↗
PubMed1999

A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America.

In order to estimate the prevalence of celiac disease in persons with Down syndrome, 105 patients with this chromosomal disorder residing on the East Coast of the United States of America were enrolled in this study. IgA and IgG antigliadin antibodies (AGA) were determined using a fluorescent immunoenzymatic assay, and antiendomysium antibodies (AEA) were measured with immunofluorescence on monkey oesophagus. Of the 105 patients, 5 were positive for AEA, 4 were positive for IgG AGA, and 1 was positive for IgG AGA and AEA. Of the five patients with high titres of AEA, four consented to a jejunal biopsy, which revealed significant villous atrophy. Thus, 4 (possibly 5) patients in this cohort of 105 individuals with Down syndrome have celiac disease.

Adolescent↗
PubMed1998

Should children with Down syndrome be screened for atlantoaxial instability?

In 1995, the Committee on Sports Medicine and Fitness of the American Academy of Pediatrics (AAP) published a position paper on atlantoaxial instability in children with Down syndrome in which a previous statement on the same subject published in 1984 (Table) was retired. The 1995 statement includes several arguments that disfavor screening of children with Down syndrome for atlantoaxial instability. Whereas some of these arguments are well founded, other lack substantive evidence that would support the statement. In the following discussion, I attempt to analyze some of these arguments made in the 1995 statement and provide a viewpoint that favors radiologic examinations of the cervical spine of children with Down syndrome.

Atlanto-Axial Joint↗
PubMed1998

Towards optimal mental health of persons with Down syndrome.

This paper outlines the risk of mental health disorders in adults with Down syndrome and considers the practical ways in which positive well-being can be promoted. It emphasises that prevention begins at birth and parents need to be alerted to positive child-rearing strategies from infancy.

Counseling↗
PubMed1995

Guidelines for optimal medical care of persons with Down syndrome. International League of Societies for Persons with Mental Handicap (ILSMH).

There are numerous clinical conditions observed in persons with Down syndrome, as described above, which should be taken into consideration in the course of their medical care and management. If provided with optimal medical services, pursuing specific evaluations and examinations, with a focus on preventive aspects and fostering well being in all areas of human functioning, the quality of life of individuals with Down syndrome can be enhanced significantly and their contribution to society substantial.

Adolescent↗
PubMed1994

Environmental and temperament assessments of children with Down's syndrome.

This study was designed to investigate the family environment and the temperament of children with Down's syndrome (DS). Parents of 40 children with DS completed the Family Environmental Scale (FES). They also were asked to fill out the Temperament Assessment Battery for Children (TABC) for both the child with DS and the nearest same-sex sibling. A similar questionnaire of the TABC (teacher form) was sent to the children's teachers. The results of these investigations revealed that there were high scores in categories cohesion, expressiveness, achievement, moral/religious emphasis, organization and control on the FES, indicating that family members in the study cohort are relationship oriented, provide support for one another, emphasize ethical values and are able to express their feelings. Comparing TABC results between children with DS with their siblings, significant differences were observed in such categories as adaptability, approach/withdrawal and persistence. Control children were scoring higher in the adaptability and persistence categories, whereas children with DS achieved significantly higher scores than the control children in the approach/withdrawal category.

Adolescent↗
PubMed1994

Elevated erythropoietin levels in cord blood of newborns with Down's syndrome.

Plasma erythropoietin (Ep) was determined in umbilical cord blood in 18 infants with Down's syndrome. The 16 infants with Down's syndrome who were delivered after labor had significantly elevated plasma Ep levels compared to 36 control infants born after labor (p < 0.001). Six of the ten infants with Down's syndrome who had their packed cell volume (PCV) measured in the first 24 h of life were polycythemic based on a PCV of > or = 0.65. The presence of congenital heart disease in 9 of the 18 infants with Down's syndrome was not associated with a higher plasma Ep or PCV levels. Plasma Ep was correlated with neonatal PCV in the combined group of control and Down's syndrome infants (p = 0.003). Increased plasma Ep levels observed in infants with Down's syndrome suggested chronic fetal hypoxemia as a likely explanation for the high incidence of neonatal polycythemia observed in this group.

Down Syndrome↗
PubMed1993

Reflex seizures in Down syndrome.

A unique patient with Down syndrome who developed reflex seizures is described. The patient has had recurrent intermittent seizures for the past 3.5 years. These seizures were usually precipitated by auditory stimuli such as sudden loud noises. While having seizures the patient experienced severe discomfort in the posterior neck area. The seizures usually lasted 10-20 s, and there was no aura, nor was there a postictal phase. Of the numerous investigations performed, closed-circuit electroencephalogram video telemetry was most helpful in arriving at an accurate diagnosis. Carbamazepine administration resulted in total seizure control and reflex stimuli no longer provoke seizure activity. Although it has been suggested that reflex seizures may be due to genetic factors or structural central nervous system defects, we were unable to uncover the cause of the reflex seizures in our patient.

Acoustic Stimulation↗
PubMed1993

Sleep-disordered breathing and behavior in three risk groups: preliminary findings from parental reports.

Sleep-related breathing disorders may cause excessive daytime sleepiness, cognitive impairment, and behavior problems in children and adolescents. Adenotonsillar enlargement (AT) is known to be a significant risk factor for these disorders, which have also been reported in several patients with Down syndrome (DS). Children with attention deficit disorder/hyperactivity (ADD) show behavior problems that may be related to disturbed nocturnal sleep in some. To evaluate the relationships among these disorders and symptoms, parents of 29 school-aged children with AT, 70 with DS and 48 of their siblings (DS-SIB), and 21 with ADD completed a 20-item screening questionnaire covering nocturnal sleep symptoms and daytime behavior problems. Nocturnal symptoms of sleep-related breathing disorders--snoring, breathing pauses during sleep--were reported more commonly by parents of AT and DS children. However, parents of two of the ADD children reported significant signs of sleep-related breathing disorders. Daytime behavior problems were more common in ADD and AT than in the DS group. Bedwetting reports did not distinguish groups. Direct comparisons of DS and DS-SIB groups showed that more DS were mouth breathers, snored, stopped breathing at night, and were sleepy in the daytime. These findings underscore the importance of obtaining a history of nocturnal sleep from parents of children with AT and DS, as well as those with disrupted daytime behavior.

Adenoids↗
PubMed1993

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

To define the region of 11p15 involved in Beckwith-Wiedemann syndrome (BWS), we have carried out a molecular genetic analysis of six patients with features of BWS and constitutional cytogenetic abnormalities involving chromosome band 11p15. Molecular analysis confirmed the 11p origin of the duplicated material and defined the smallest region of overlap for such duplications, within which a gene involved in BWS must be located. This region encompasses the beta-globin gene complex (HBB) to 11pter. In both of our informative cases, the 11p duplication was found to be of paternal origin. Two BWS associated balanced translocations of 11p15 were studied to localize the breakpoints on 11p15. Somatic cell hybrids, Southern blotting and fluorescent in situ hybridization (FISH) showed that both breakpoints were between D11S12 and the insulin-like growth factor 2 (IGF2) gene. A non-BWS translocation breakpoint was more proximal, between HBB and calcitonin-A (CALCA). Pedigree analysis showed that both BWS associated 11p15 translocations were transmitted by phenotypically normal mothers. The data are compatible with the hypothesis that the BWS gene is imprinted and that the maternally inherited BWS gene is normally suppressed whereas the paternally inherited allele is active. Thus, duplications of paternal origin would lead to increased dosage of the BWS gene. Similarly increased dosage of the BWS gene could account for the findings in maternally inherited 11p15 translocations by altering normal imprinting, so that the translocated maternal allele remains active. This study defines one or more gene loci for BWS on 11p15.5 in the genomic region from D11S12 to IGF2.

Beckwith-Wiedemann Syndrome↗
PubMed1992

Head circumference of children with Down syndrome (0-36 months)

This study provides statistically appropriate head circumference reference curves for males and females with Down syndrome (DS) from birth to 36 months of age. A total of 239 males and 182 females from five study populations, yielding a combination of cross-sectional and longitudinal data, were used for the analysis. The method of least squares was used to test the fit of the growth model y = a+bx+c[log(x + 1)], where x is age in months. These standardized curves should provide information of value in the medical, physical, and developmental management of children with DS.

Biometry↗
PubMed1992

Myoclonic dystonia.

Myoclonic dystonia is a rare disorder that occurs in an hereditary and a sporadic form. The autosomal-dominantly inherited form is responsive to alcohol but not to other drugs. The sporadic form has been relatively resistant to drug treatment. We report a young man with myoclonic dystonia who displayed only little response to alcohol but improved significantly with a combination of sodium valproate for myoclonus and trihexiphenidyl hydrochloride for dystonia. His rehabilitation, however, was confounded by public authorities who thought the patient's appearance was indicative of drug use.

Adult↗
PubMed1992

Central nervous system and renal investigations in patients with Lowe syndrome.

We describe three patients with Lowe (oculocerebrorenal) syndrome, emphasizing primarily the central nervous system and renal pathology. Using magnetic resonance imaging, we noted diffuse high T2 signals periventricularly, indicating significant white matter destruction, which may be responsible in part for the mental retardation, seizure disorder, hypotonia, and areflexia observed in the patients. In contrast to previously published reports, there was minimal renal tubular dysfunction; however, proteinuria was significantly increased in all patients. We believe that the observed proteinuria is primarily the result of glomerular pathology rather than renal tubular dysfunction and may represent a net loss of negative charges within the glomerular filter. This loss of charge may be linked to the increased excretion of glycosaminoglycans in the urine.

Adolescent↗
PubMed1992

Computerized tomography in persons with Down syndrome and atlantoaxial instability.

Atlantoaxial instability has been reported to occur in 9-31% of persons with Down syndrome. The authors studied a subsample of patients with this chromosomal disorder who had both routine roentgenograms and computerized tomographic examinations. Computerized tomography revealed numerous skeletal anomalies of the C1-C2 region as well as spinal cord compression that were not visualized on plain roentgenograms. In addition, an apparent discrepancy of the atlanto-dens interval measurements between the two procedures was noted. The measurements of the plain roentgenograms were significantly greater than those obtained by computerized tomography, which is due to the magnification factor in plain roentgenograms.

Atlanto-Axial Joint↗
PubMed1992

Lipids and lipoproteins in persons with Down's syndrome.

This study was designed to investigate whether the observed decreased prevalence of coronary artery disease in individuals with Down's syndrome may be explained by their serum lipid and lipoprotein profiles. Twenty-seven persons with Down's syndrome and 23 non-affected control individuals were enrolled in this study. Their fasting venous blood was analysed for total cholesterol, triglyceride, LDH cholesterol, HDL cholesterol, apo B and apo AI. The results revealed no significant differences between the study and control group with regard to total cholesterol, LDL cholesterol, apo B and the apo B:apo AI ratio. However, triglyceride levels were significantly increased, and serum HDL cholesterol, apo AI and HDL cholesterol:total cholesterol ratio were significantly decreased in patients with Down's syndrome when compared with the control group. The latter observations are all associated with an increased risk for coronary artery disease. Therefore, it is concluded that the decreased prevalence of coronary artery disease in individuals with Down's syndrome cannot be explained by the lipid and lipoprotein levels observed in this study population.

Adolescent↗