Search PubMed⌕ Search

Biomedical subjects

K Kozlowski

Publications and source records attributed to K Kozlowski.

At least 55 records · Page 3Linked to original sources
PubMed1999

Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures.

UNLABELLED: We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. Electrophoresis of fibroblast collagens detected defects in type III and type V collagen. CONCLUSION: Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.

Abnormalities, Multiple↗
PubMed1999

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.

UNLABELLED: A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal. CONCLUSION: These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.

Adolescent↗
PubMed1999

Metaphyseal chondrodysplasia, type Jansen.

The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.

Child↗
PubMed1999

Review article: the therapeutic potential of 5-HT3 receptor antagonists in the treatment of irritable bowel syndrome.

There is evidence from studies, in both animals and humans, that 5-HT3 receptor blockade has potential value in the treatment of irritable bowel syndrome, particularly in those patients with diarrhoea-predominant bowel habits. New findings suggest that 5-HT3 receptors exist on gut afferent neurones and that their activation by locally released 5-HT leads to visceral nociceptive stimulation, in addition to increased neuronally-mediated motor and secretory activity. If this concept is validated, it will provide a rationale for the use of 5-HT3 receptor antagonists in patients with increased gut motility, reduced fluid absorption and low nociceptive thresholds leading to abdominal pain. Alosetron is a highly selective, potent 5-HT3 receptor antagonist which is well absorbed with a long pharmacodynamic half-life. Its ability to provide long-lasting blockade of 5-HT3 receptors throughout the body make it an ideal candidate within its class to evaluate the clinical hypothesis that sustained and ubiquitous 5-HT3 receptor blockade is of value in the treatment of IBS.

Animals↗
PubMed1999

Bone dysplasias in orthopedic practice.

The paper presents a review of rare but important orthopedic diseases--osteochondrodysplasias. The authors stress both the clinical and radiological variety of these deformations. Some kinds of osteochondrodysplasia are clearly defined clinical entities, while in other cases the clinical presentation is so variable that it is very difficult to make a diagnosis. Accurate diagnosis is very important in order to assess the inheritance pattern, clinical course and possible complications. Clinical and radiological examination are the cornerstones in making a diagnosis. The paper contains a list of radiograms necessary for a correct diagnosis. In many cases the diagnostic process must include highly specific biochemical and genetic tests.

Diagnosis, Differential↗
PubMed1998

Burton skeletal dysplasia: the second case report.

We describe a 2-year-old girl with clinical and radiological findings of Burton skeletal dysplasia. This rare disorder shows some similarities to Kniest dysplasia. Short stature, joint stiffness, microstomia, and pursed lips are characteristic clinical findings. Platyspondyly with cervical kyphosis, but no coronal clefts, and bowing of the long bones are distinctive radiographic findings.

Bone and Bones↗
PubMed1998

Syndromic foramina parietalia permagna.

We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of branchial and auricular fistulae, abnormal face, and skeletal abnormalities including foramina parietalia permagna.

Abnormalities, Multiple↗
PubMed1998

Autosomal recessive omodysplasia: report of three additional cases.

Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type).

Abnormalities, Multiple↗
PubMed1998

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by iris hypoplasia, goniodysgenesis and increased intraocular pressure. Each syndrome also presents with non-ocular features including maxillary hypoplasia, micro and anodontia, redundant periumbilical skin, hypospadius (in males), and each has been genetically linked to chromosome 4q25. RIEG1 , the gene responsible for the 4q25 ARS phenotype, recently has been cloned. RIEG1 encodes a novel member of the bicoid class of homeobox proteins known to be active as transcription factors. Mutational analysis has previously detected several mutations in this gene in ARS individuals. We have now detected a mutation in RIEG1 which segregates with the disease phenotype in a family with IGDS. This mutation is a G-->A transition altering an arginine residue to a histidine in a highly conserved location in the second helix of the homeobox of RIEG1. This mutation indicates that IGDS and ARS are allelic variants of the same disorder. This wide variability in clinical consequences of mutations at the RIEG1 4q25 locus implicates the RIEG gene broadly in ocular and craniofacial disorders.

Adolescent↗
PubMed1997

Severe limb abnormalities: Nievergelt or new syndrome?

Since the characteristic mesomelic limb abnormalities of the autosomal-dominant Nievergelt syndrome (NS) may be casually nonspecific, we are unsure whether our patient with these abnormalities but also with severe, symmetrical hand and foot anomalies has an unusual form of Nievergelt syndrome or a previously apparently undescribed syndrome. This infant's condition could represent an autosomal-dominant new mutation, or an autosomal or X-linked recessive disorder.

Abnormalities, Multiple↗
PubMed1997

Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata.

The appearance and gradual enlargement of fibrous cortical defects and multiple nonossifying fibromata are documented in this report of a 2-year-old boy with a very rare skeletal dysplasia known as osteoglophonic dysplasia, characterized by multiple and recurrent craniosynostoses, platyspondyly, short tubular bones, and epiphyseal dysplasia.

Bone Diseases, Developmental↗
PubMed1997

Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

The clinical, radiographic, and morphological findings in 25 cases of atelosteogenesis and boomerang dysplasia have been reviewed. The review confirms the nosologic grouping of atelosteogenesis type I with boomerang dysplasia and the clinical and radiographic overlap of features between atel- osteogenesis I and atelosteogene- sis II (synonymous with De la Chapelle dysplasia) and a group of patients with atelosteogenesis type III. A common pathogenesis is suggested for atelosteogenesis type I and boomerang dysplasia. A marked excess of male fetuses with boomerang dysplasia was observed. Atelosteogenesis type II shows distinctive chondro-osseous histopathology with a major disturbance in cartilage matrix macromolecules. An overlap of phenotypic, radiographic, morphological, and cartilage histochemical features with those observed in diastrophic dysplasia and achondrogenesis type IB suggests that atelosteogenesis type II has common pathogenetic features with disorders of sulfation of connective tissue matrix macro- molecules.

Bone Diseases, Developmental↗
PubMed1997

Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.

We report a 5-year, 9-month-old boy with bilateral patellar hypoplasia. The radiographic skeletal survey revealed absent ossification of the ischium and inferior pubic ramus on both sides, characteristic of the newly recognized benign bone dysplasia known as small patella syndrome, or ischiopatellar dysplasia. No nail change, iliac horn, elbow anomaly, or renal disease is associated with this condition.

Bone Diseases, Developmental↗