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Biomedical subjects

M Kmieciak

Publications and source records attributed to M Kmieciak.

7 recordsLinked to original sources
PubMed2001

Cloning and characterization of Arabidopsis thaliana AtNAP57--a homologue of yeast pseudouridine synthase Cbf5p.

Rat Nap57 and its yeast homologue Cbf5p are pseudouridine synthases involved in rRNA biogenesis, localized in the nucleolus. These proteins, together with H/ACA class of snoRNAs compose snoRNP particles, in which snoRNA guides the synthase to direct site-specific pseudouridylation of rRNA. In this paper we present an Arabidopsis thaliana protein that is highly homologous to Cbf5p (72% identity and 85% homology) and NAP57 (67% identity and 81% homology). Moreover, the plant protein has conserved structural motifs that are characteristic features of pseudouridine synthases of the TruB class. We have named the cloned and characterized protein AtNAP57 (Arabidopsis thaliana homologue of NAP57). AtNAP57 is a 565 amino-acid protein and its calculated molecular mass is 63 kDa. The protein is encoded by a single copy gene located on chromosome 3 of the A. thaliana genome. Interestingly, the AtNAP57 gene does not contain any introns. Mutations in the human DKC1 gene encoding dyskerin (human homologue of yeast Cbf5p and rat NAP57) cause dyskeratosis congenita a rare inherited bone marrow failure syndrome characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia.

Amino Acid Sequence↗
PubMed2001

[Snapping hip of internal origin].

The paper presents an unusual case of internal snapping hip in an 18 year old female, due to abnormal iliopsoas tendon tension. Operative treatment with precision of the fibrous slip over the rim of the pelvis gave a very good result, with slight limitation of active hip flexion. Various opinions on the pathogenesis and treatment of this rare condition have been presented. Lack of snapping in a supine position during clinical assessment has been emphasized.

Adult↗
PubMed1995

[Digital method of assessing bone radiographs].

The computerized method of bone radiographs assessment has been presented. The radiographs were taken by standard technique with the aluminum wedge on the film and known exposition parameters as energy, time and the distance between the source and the subject. Specially designed software served to evaluate the intensity of film darkening. The method may be particularly useful for quantitative assessment of the callus in the healing phase of fractured bone. It may also be an alternative method (as cheaper one) to QCT or DPX in bone density evaluation in patients with metabolic bone diseases.

Absorptiometry, Photon↗
PubMedDate not supplied

[A case of complete Th7-Th8 fracture-dislocation treated by one-stage posterior and transthoracic approach].

The authors present a case of severe traumatic fracture-dislocation of Th8 with total anterior slippage of Th7 on Th8 without spinal cord injury. The patient underwent one-stage anterior and posterior decompression. Posterior surgery included Th4 to Th9 laminectomy and Th7-Th8 facetectomy and posterior bone graft. Anterior procedure included Th8 vertebrectomy, anterior interbody bone graft and anterior plating with usage of "Zespol" plate and screws anchored in Th6, Th7, Th8 and Th9 vertebral bodies. Postoperative period was uneventful and the patient remained neurologically intact. He was placed in a plaster jacket and mobilized of fifth day after surgery.

Adult↗