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A B Hawk

Publications and source records attributed to A B Hawk.

6 recordsLinked to original sources
PubMed1999

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has been associated with a normal phenotype. We report on a patient who presented with nonspecific developmental delay and partial agenesis of the rostral corpus callosum. Fluorescence in situ hybridization (FISH) studies using probes specific for the PWS/AS region demonstrated a double signal on one chromosome 15, indicating the presence of an interstitial duplication of proximal 15q involving the PWS/ AS region in the patient. Parental chromosomes were normal with FISH studies. Methylation analysis at exon alpha of the SNRPN locus showed a maternal band at 4.2 kb and a paternal band of apparent double intensity at 0.9 kb, suggestive of one copy of the maternal allele and two copies of the paternal allele in the patient. Microsatellite analysis was informative at the GABRB3 locus in the family, which showed the inheritance of two different paternal alleles and a maternal allele in the patient consistent with the origin of this duplication from an unequal crossing over between the two chromosome 15 homologs in the father. This is the first report of an abnormal phenotype associated with a paternally derived duplication of proximal 15q shown to contain the PWS/AS region by molecular techniques.

Agenesis of Corpus Callosum↗
PubMed1998

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2).

Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal meiotic nondisjunction for chromosome 15. The patient (J.B.), a 17-year-old white male with PWS, was found to have 47 chromosomes with a supernumerary, paternal der(15) consisting of the short arm and the proximal long arm of chromosome 15, and distal chromosome arm 3p. The t(3;15) was present in the balanced state in the patient's father and a sister. Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus. A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. Furthermore, our findings are best interpreted as true gamete complementation resulting in maternal UPD 15 and PWS.

Adolescent↗
PubMed1993

Quality improvement: how does it differ from quality assurance?

Quality improvement? How does it differ from Quality assurance? The "Total Quality Management" movement which has been so successful in improving the quality of manufactured products in Japan and more recently in the United States has arrived in American service industries, including health care. Although a minority of health care institutions has adopted the Continuous Quality Improvement (CQI) or Total Quality Management (TQM) philosophy and techniques on their own, the new Joint Commission on Accreditation of Health Care Organizations (JCAHO) standards to be phased in over the next 3 years require all accredited hospitals to "adopt the new philosophy".

Humans↗
PubMed1978

Signs and symptoms as predictors of outcome: a report from the International Pilot Study of Schizophrenia.

The prognostic significance of signs and symptoms taken individually rather than in diagnostic clusters was investigated in 61 schizophrenic patients seen at 5-year follow-up in the Washington Center of the International Pilot Study of Schizophrenia. Best and worst outcome patients (Ns = 20) were selected on the basis of total outcome score from a reliable 9-item schedule; 21 middle-outcome patients were excluded. Data from these two groups were analyzed to determine which signs and symptoms assessed 5 years previously were associated with outcome. Only restricted affect predicted poor outcome: depression, anxiety, and nuclear symptoms of schizophrenia were not significant predictors. The findings are discussed within the conceptual framework of productive and defect symptoms.

Adolescent↗
PubMed1975

Diagnostic criteria and five-year outcome in schizophrenia. A report from the International Pilot Study of schizophrenia.

Systematic psychiatric assessment was undertaken on 131 patients (the American cohort of the International Pilot Study of Schizophrenia). Nine areas of outcome functioning were assessed five years later at follow-up evaluation on 63% of these patients. An analysis of 66 clinical and demographic variables established that the patients sucessfully followed-up were representatives of the entire cohort. Diagnostic data from initial evaluations and follow-up outcome assessment were used to examine the relationship between diagnostic criteria and outcome in schizophrenia. Applying the criteria for schizophrenic diagnosis defined by Langfeldt, by Schneider, and Carpenter et al failed to define a poor outcome group. No difference in outcome was found when traditional schizophrenic subtypes were contrasted. Overall outcome in 61 patients with conditions diagnosed as schizophrenic was heterogeneous. However, despite overlap, the mean outcome in the schizophrenic cohort was poorer than in the 19 nonschizophrenic patients.

Activities of Daily Living↗