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Biomedical subjects

A E Chudley

Publications and source records attributed to A E Chudley.

At least 37 records · Page 2Linked to original sources
PubMed2001

Mosaic trisomy of a small r(1) with an abnormal phenotype.

Cytogenetic studies of a mildly dysmorphic 10-year-old male with mild developmental delay and learning difficulties revealed mosaicism for a supernumerary ring chromosome in approximately half of the cells. The karyotype of this patient was established as 47,XY,+r[15]/46,XY[15].ish r(1)(D1Z7+,wcp1-). Although the presence of euchromatic material was shown by C banding, the lack of hybridization with the whole chromosome paint 1 (wcp1) probe suggests that few unique sequences are contained in the ring and that these sequences likely explain the child's dysmorphic features and developmental delay. A review of the literature, including the present case, suggests that the significance of euchromatin in supernumerary r(1) as determined by both C banding and fluorescence in situ hybridization (FISH) with chromosome 1 painting probes can be used as a prognostic indicator for potential severity of the clinical phenotype.

Child↗
PubMed2001

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature.

CODAS syndrome (MIM# 600373) is a rare multiple congenital anomalies syndrome. The disorder is highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). To date, there have been two affected female children reported. The first was a Canadian girl of Mennonite descent, reported by our group, and the second was a girl from Brazil. The etiology and pattern of inheritance of CODAS is unknown. Herein we report a third affected child, a Canadian male infant of Mennonite ancestry. The child, now two years old, exhibits ptosis, cataracts, overfolded ears, grooved nasal tip, dental projections, developmental delay, and characteristic skeletal anomalies. The findings are characteristic for CODAS syndrome. All investigations including karyotype, metabolic screening, peroxisomal studies, and studies of cholesterol biosynthesis were normal. The underlying defect responsible for CODAS syndrome remains unknown. Many of the features suggest a possible underlying collagen gene defect. The fact that this child is the second child from the Manitoba Mennonite community, a genetic isolate, suggests the possibility of autosomal recessive inheritance. To date, there has not been a familial recurrence.

Abnormalities, Multiple↗
PubMed2001

Meeting the needs of future physicians: a core curriculum initiative for postgraduate medical education at a Canadian university.

UNLABELLED: In addition to possessing medical expertise, contemporary physicians are expected to be skilled communicators, critical consumers and users of medical research, teachers, collaborators, health care advocates, and managers. A core curriculum is a common set of learning experiences designed to help prepare physicians for these complex roles. PURPOSE: This article describes the design and implementation of one core curriculum, summarizes the feedback received from residents, and shares some of the lessons we are learning as we use feedback to develop our programme. METHOD: The core curriculum described was implemented at a Canadian university which offers 56 residency programmes with a total enrollment of approximately 360 students. The curriculum consisted of 30 sessions organized around four themes: biostatistics and epidemiology; communications and teaching skills; healthcare management, and ethical, medicolegal and lifestyle issues. Each session in the Core Curriculum was evaluated by residents with respect to the timing, quality, and value of the learning experience. In addition, residents participated in focus group discussions of their Core Curriculum experiences. RESULTS: Key findings related to the characteristics of effective core curriculum learning experiences and to the barriers to implementing a core curriculum across programmes. Of particular salience were findings related to explicit issues of attendance and the diverse needs of learners and programmes, and to more implicit issues of communication and managing change. The specific content and format of the Core Curriculum and the results of the evaluation process will be of interest to others considering a core curriculum for postgraduate medical programmes.

Clinical Competence↗
PubMed2000

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smith-Magenis syndrome, and the velocardiofacial syndrome (VCFS). The deletion affecting the chromosome 22q in the most distal band (22q13) appears to define yet another neurobehavioral phenotype. In addition to our report, there are about 17 other cases published of this particular deletion syndrome. We describe three children who share features of developmental delay and pervasive behaviors in addition to normal to advanced growth patterns. Results of cytogenetic analysis suggest that the 3 patients share a deletion affecting the terminal 22q13 region. Two were found to have a cryptic deletion, in the third it was detected by conventional cytogenetics. The cryptic deletions were demonstrated using fluorescent in situ hybridization (FISH), where the control probe for the DiGeorge/VCFS region was deleted. While there remain gaps in our understanding of this particular deletion syndrome, we propose that patients with normal or advanced growth, significantly delayed speech, deviant development and pervasive behaviors, with minor facial dysmorphism, be screened for this deletion.

Autistic Disorder↗
PubMed1999

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.

We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting X- linked inheritance. The affected males had prominent glabella, synophrys, prognathism, generalized hirsutism, and bilateral single palmar creases. All developed seizures in childhood. The two oldest have had a slow deterioration in neurological status with poor gait and balance and progressive weakness. No deterioration in their mental status has been observed. The oldest had cerebellar atrophy confirmed on computed tomography and magnetic resonance imaging scans of the brain and prolonged nerve conduction velocity. Two of the males had hypogammaglobulinemia (IgA deficient). Two-point linkage analysis using 27 microsatellite markers on the X chromosome resulted in a maximum LOD score of 2.23 at straight theta = 0 for locus DSX101. Recombination was observed at locus DSX1170 in Xq21.33 and locus DXS8067 in Xq23. We conclude that this family represents an X-linked disorder associated with a recognizable phenotype, progressive neurological deterioration, and variable hypogammaglobulinemia. The gene appears to lie between Xq21.33 and Xq23.

Abnormalities, Multiple↗
PubMed1999

Tibial agenesis, femoral duplication, and caudal midline anomalies.

Tibial agenesis with femoral duplication (Gollop-Wolfgang complex) and cloacal exstrophy are each rare malformations. Thus, their concurrence in an individual is an extremely rare event. We report on a patient born with distal duplication of the right femur, agenesis of the right tibia and hallux, cloacal exstrophy, and sacral defects. Review of the small group of cases reported with femoral duplication and tibial agenesis in association with caudal midline defects demonstrated a pattern of anomalies that while varying in presentation and severity was quite specific. We postulate that this disorder is related to misexpression of one or more distal HOX genes, potentially HOX10 or HOX11, leading to abnormal induction and proliferation of caudal mesenchyme.

Abnormalities, Multiple↗
PubMed1999

Agenesis of the penis: patterns of associated malformations.

Agenesis of the penis is a rare malformation that occurs in otherwise normal males or together with other anomalies. In this article, we document unusual patterns of malformations in four such infants and analyze the nature and incidence of defects in 57 cases by clinical evaluation and numerical classification techniques. Although patients with this condition previously have been divided into groups based on the position of the urethral meatus in relation to the anus (presphincteric, postsphincteric, urethral atresia), our analyses suggest that most cases can be classified into either a severe form (16%) with renal aplasia or dysplasia and other caudal anomalies or a second group (72%) with low mortality and fewer additional malformations. The remaining cases in our group represented unique patterns stemming from a variety of causes, including etretinate embryopathy and the human homologue of the disorganization mutation. Agenesis of the penis occurs as a consequence of single gene disorders, teratogenic effects, or malformation sequences and associations and in unrecognized patterns of anomalies. It thus should be considered a developmental field defect. Its concurrence with scrotal hypoplasia, absent raphe, and anal anomalies implies a major disturbance of the caudal mesoderm. In such cases, severe renal defects are usually seen, and the prognosis is poor. When the patient has a patent urethra and normal scrotum, raphe, and testes, however, penile agenesis may be a localized malformation of the genital tubercle potentially related to penoscrotal transposition, a phylogenetic anomaly that is the normal genital arrangement in male marsupials, rabbits, and certain other mammals. Infants with isolated penile agenesis have generally done well. In the past, many were not treated; however, current recommendations are to use appropriate surgical and endocrine techniques to reassign female gender and enhance sexual and psychosocial functioning, though this approach is the subject of controversy.

Child, Preschool↗