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P Tordai

Publications and source records attributed to P Tordai.

17 recordsLinked to original sources
PubMed2001

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.

Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the clinical characteristics of DCO has also been described in sporadic and a few familial cases but the genetic defect underlying IMD is unknown. In this study, we have examined 28 probands with DCO and seven probands with IMD for mutations in the SHOX gene by using polymorphic CA-repeat analysis, fluorescence in situ hybridisation (FISH), Southern blotting, direct sequencing and fibre-FISH analyses. This was combined with auxological examination of the probands and their family members. Evaluation of the auxological data showed a wide intra- and interfamilial phenotype variability in DCO. Out of 28 DCO probands, 22 (79%) were shown to have mutations in the SHOX gene. Sixteen unrelated DCO families had SHOX gene deletions. Four novel DCO-associated mutations were found in different families. In two additional DCO families, the previously described nonsense mutation (Arg195Stop) was detected. We conclude that mutations in the SHOX gene are the major factor in the pathogenesis of DCO. In a female proband with severe IMD and her unaffected sister, we detected an intrachromosomal duplication of the SHOX gene.

Blotting, Southern↗
PubMed1999

Trigger fingers in children.

Twelve children with triggering of 17 digits other than the thumb were seen in our department during an 8-year period. There were 8 children with single-finger involvement; the remaining patients had more than 1 triggering finger. Seven fingers in 5 children were not treated surgically; 1 of these patients had residual triggering in all 3 involved fingers. Ten fingers in 7 children were treated surgically. In contrast to the operative findings in children with triggering thumbs, no nodules were found in these cases. The surgical procedure necessary to relieve the triggering was often more extensive than an incision of the A-1 pulley alone and required separation of the inserting slips of the flexor digitorum superficialis tendon and release of the proximal A-2 pulley.

Child↗
PubMed1995

Diagnosis by ultrasound of dislocated ulnar collateral ligament of the thumb.

The ability of ultrasound to assess a displaced ulnar collateral ligament of the 1st metacarpo-phalangeal (MCP) joint was evaluated. If the ligament is ruptured and displaced proximal to the adductor aponeurosis, a surgical repair should be undertaken to restore stability. Ultrasound accurately diagnosed these lesions in 32/39 operated patients. In 4 cases the ultrasound examination suggested a more severe lesion than was found at operation. In 3 cases a lesser injury was suspected than later proved to be present.

Adolescent↗
PubMed1994

Diagnosis of ganglions in the hand and wrist by sonography.

In the practice of hand surgery, imaging of soft tissue structures can provide useful information for diagnosis and preoperative planning. Sonography with high frequency technique giving high spatial resolution is especially rewarding. In a joint project of the Departments of Radiology and Hand Surgery we evaluated the diagnostic accuracy and clinical value of sonographic assessment of ganglions of the hand and wrist. The material comprises 68 soft tissue lesions clinically suspected to be ganglions. Sonography revealed a ganglion in 53 cases, 34 of which went to surgery. The diagnosis was confirmed in every case. One collapsed ganglion was missed. Nonpalpable ganglions causing clinical symptoms could be demonstrated, and a suspected ganglion could sometimes be ruled out in favor of other diagnoses. Sonography could delineate the entire ganglion and often its connection with the joint space.

Adult↗
PubMed1993

Adverse reactions in healthy and immunocompromised children under six years of age vaccinated with the Danish BCG vaccine, strain Copenhagen 1331: implications for the vaccination policy in Sweden.

A retrospective analysis of the adverse reactions reported between 1979 and 1991, in the 139,000 children under six years of age vaccinated in Sweden with the Danish BCG vaccine, strain Copenhagen 1331, showed an incidence of 1.9 per 1000 vaccinated children. Regional lymphoglandular swellings and/or abscesses were most commonly reported in 1.4 per 1000. Serious, disseminated, BCG infections developed in four infants vaccinated neonatally. Three of the infants suffered from severe, combined, immunodeficiency syndrome, undiagnosed at the time of vaccination. The incidence of severe, combined, immunodeficiency syndrome was higher in the BCG-vaccinated population (4 per 100,000 infants vaccinated within a year of their births), compared with all newborns in Sweden (1 per 100,000). The mean age at the onset of symptoms was 2.4 months for the seven non-BCG-vaccinated infants versus 1.3 months for the four BCG-vaccinated ones, while the immunodeficiency syndrome was diagnosed at an average age of 7.6 months in those who were not vaccinated versus 5.3 months in those BCG-vaccinated. It is recommended that the selective BCG vaccination of infants at high risk of exposure to tuberculosis should be postponed to six months of age to reduce the risk of inoculating infants suffering from immunodeficiency syndromes.

Age Factors↗
PubMed1991

Ultrasonography for the diagnosis of soft tissue conditions in the hand.

Six months' experience of ultrasonographic diagnosis of the hand has proved it to be a valuable method for diagnosis of ganglions, tendon ruptures, synovitis, tumours, and the presence of foreign bodies. We are exploring ways of increasing its scope, in the light of the technical innovations that are being made.

Adult↗
PubMed1990

Avoiding splenectomy in the treatment of children with splenic injury.

Ninety-two consecutive patients with traumatic rupture of the spleen were studied. Of the first 46 children (group A), 44 underwent splenectomy. In the subsequent group (group B) non-operative management was successful in 40 of 46 patients, five patients were operated with splenic repair, and one had the spleen removed. All the ruptures were caused by blunt trauma and the severity of the splenic injury was roughly the same in the two groups of patients. A third of the patients in each group had associated injuries, renal injury being the most common intraabdominal lesion. The median hospital stay was 8.0 days (range 5 to 28) in group A and 12.5 days (range 7 to 18) in group B. Among the 40 patients who were treated conservatively, a biphasic course was seen in 23: one or two days after the accident a period of increased pulse rate, fever and increased abdominal tenderness and pain followed, but no evidence for a delayed rupture was found. Our results of conservative treatment of splenic rupture are encouraging and show that non-operative management should be considered in most cases.

Adolescent↗
PubMed1986

Tobogganing and sledging accidents. Mechanisms and injuries.

A series of 271 children, injured in tobogganing and sledging accidents was studied. The typical victim in a tobogganing accident was a 5-year-old child and in a sledging accident, an 8-year-old boy. Most accidents occurred on a slope especially designated for tobogganing and sledging. Despite this, the most common accident was a collision with an obstruction. Fractures made up 41% of the injuries, and 17% of all the injured children needed admission to hospital. An elimination of trees, poles and other obstructions from these slopes would reduce the injuries, and children should not be allowed to ride these vehicles near public roads and streets.

Accidents↗
PubMed1983

Rehydration using solutions with and without glucose before emergency abdominal surgery in children.

The metabolic effects of six different solutions used for rehydration were studied in 88 children before emergency abdominal surgery. A volume corresponding to 5% of the body weight was given i.v. during 4 h (12.5 ml . kg-1 . h-1) between admission and surgery. The different solutions were: low glucose electrolyte solution (LGE), Rehydrex 2.5%, Rehydrex 5% containing 0.9, 2.5 and 5.0% glucose, respectively, Ringer, Ringer lactate and Ringerdex (30 mmol acetate . l-1). Venous blood samples were drawn before and after rehydration and analysed for glucose, insulin, alanine, 3-hydroxybutyrate (3-HB), non-esterified fatty acids (NEFA), glycerol and base excess. Before rehydration the plasma concentrations of NEFA, glycerol and 3-HB were elevated, while that of alanine was decreased. Plasma levels of NEFA and 3-HB remained unchanged, whereas glucose and insulin decreased after rehydration with glucose-free solutions, i.e. Ringer, Ringer lactate and Ringerdex. With solutions containing glucose the concentrations of NEFA and 3-HB decreased significantly. With Rehydrex 5% hyperglycaemia and hyperinsulinaemia were observed. Rehydration using LGE and especially Rehydrex 2.5% resulted in decreased lipid mobilization and ketonaemia without concomitant marked increase of glucose and insulin. LGE and Rehydrex 2.5% thus appeared to be the most appropriate solutions in a situation where moderate dehydration had to be corrected during a short period of time before emergency abdominal surgery.

Abdomen, Acute↗