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Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 91 records · Page 5Linked to original sources
PubMed1994

Free radical adducts induce alterations in DNA cytosine methylation.

Methylation of cytosines in DNA is important for the regulation of expression of many genes. During carcinogenesis, normal patterns of gene methylation can be altered. Oxygen radical injury, shown to damage DNA in a variety of ways associated with cancer development and other conditions, has been suggested to affect DNA methylation, but a mechanism has not been demonstrated. Using oligonucleotides containing the common oxygen radical adduct 8-hydroxyguanine to replace guanine, we found that the enzymatic methylation of adjacent cytosines is profoundly altered. Furthermore, there is a high degree of positional specificity with respect to this effect. Thus, free radical injury may explain some of the altered methylation observed during carcinogenesis.

Base Sequence↗
PubMed1994

Case report 870. Schneckenbecken dysplasia, possibly a new variant.

We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent. This could be accounted for by variability or genetic heterogeneity.

Bone and Bones↗
PubMed1994

Japanese type of spondylo-metaphyseal dysplasia.

Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.

Adult↗
PubMed1994

Radiographic abnormalities in Laron dwarfism.

Radiographic abnormalities in two children with Laron dwarfism are described. In addition to a characteristic bone age, which was retarded for the chronological age but advanced for the height of the patients, there were marked skull changes and minor skeletal abnormalities in the long bones and vertebrae. Such findings on a skeletal survey should lead the radiologist to suspect the disorder.

Bone and Bones↗
PubMed1994

Osteomesopycnosis.

The radiographic findings in two children with osteomesopycnosis are described. This is the first report in the Australian literature of this uncommon, recently described entity.

Adolescent↗
PubMed1994

Mesomelic dysplasia: Langer type.

Two patients with Langer type mesomelic dysplasia are reported. This is one of the rare but well differentiated and easily recognizable mesomelic dysplasias.

Adult↗
PubMed1994

Hajdu-Cheney syndrome in a 3 1/2 year old girl.

Hajdu-Cheney acro-osteolysis is reported in a 3 1/2 year old girl whose mother has the syndrome. Acro-osteolysis was shown to be absent at the age of 2 1/2 years. It was demonstrated on hand X-rays performed a year later. This is the youngest case of Hajdu-Cheney acro-osteolysis reported in the literature.

Child, Preschool↗
PubMed1994

Dysspondyloenchondromatosis in the newborn. Report of four cases.

Dysspondyloenchondromatosis is a rare form of generalised enchondromatosis with hypoplastic/dysplastic changes in the lower thoracic and upper lumbar spine. The disease presents at birth as neonatal dwarfism and is characterised later in life by marked shortening of stature, unequal length of the extremities and early development of kyphoscoliosis. We report four newborn babies--three boys and a girl--with dysspondyloenchondromatosis, who had skeletal survey performed shortly after birth. The condition can be established in the newborn, as the radiographic examination (skeletal survey) shows diagnostic radiographic findings.

Child↗
PubMed1994

Mesomelic dysplasia.

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Abnormalities, Multiple↗
PubMed1993

Agenesis of the corpus callosum with mental retardation and osseous lesions.

We report on a patient with agenesis of corpus callosum, mental retardation, and unusual hitherto undescribed bone changes. The latter include multiple Wormian bones, thin ribs, short, straight, laterally tapering clavicles, small iliac bodies, high iliac angles, triangular areas of sclerosis in the iliac bones, minimal metaphyseal irregularity, striated trabecular pattern in some metaphyses, granular ossification pattern of the patellae, hypoplastic distal phalanges, minimal flatness of phalangeal epiphyses, and retarded bone age. This patient represents a new mental retardation syndrome with agenesis of corpus callosum and unusual bone changes.

Abnormalities, Multiple↗
PubMed1993

Types and complications of femoral neck fractures in children.

This multicenter collaborative study was undertaken to review the types and complications of femoral neck fractures in children. It is a retrospective clinical and radiological review of 108 femoral neck fractures. Cases originated from four different pediatric hospitals. All the patients had plain radiographs. Fractures occurred at all ages (one day to 18 years), and 63% of the patients were boys. Forty-nine fractures were traumatic; 37 were pathologic, 19 were insufficiency fractures; and three were fatigue fractures. Unless the underlying bone was abnormal, significant high velocity trauma, fall from a height or other severe violence was required to fracture the femoral neck. A unicameral bone cyst was the underlying lesion in 40% of pathologic femoral neck fractures and malignancy in 35%. Osteoporosis as in myelodysplasia, osteogenesis imperfecta and from other causes was responsible for 52% of insufficiency fractures. Because of the unique osseous and vascular anatomy of the femoral head and neck in the growing child, these fractures have a high incidence of complications. Complications included avascular necrosis 13%, premature closure of the epiphyseal plate 12%, varus deformity 8.3%, and nonunion 3.7%. Unless there is a clear history of significant violence, a cause for a femoral neck fracture should be sought, e.g. an underlying bone lesion or a metabolic bone disease. These fractures are rare, but are serious injuries since their complications may lead to a life-long disability.

Adolescent↗