Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases

Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre-Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination.     

Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures

Three infants are described, one with the Neu-Laxova syndrome and two with the cerebro-oculo-facio-skeletal (COFS) syndrome. The relationship between these two syndromes is discussed in the light of the present cases and others in published reports.     

Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.

A child with brachymesophalangy and postaxial postminimal polydactyly was found also to have dermal ridge dissociation and ridge hypoplasia. She was the second child of unaffected, unrelated parents and was born after a normal pregnancy and delivery. No previous report of a similar combination has been traced.     

Tranexamic acid reduces early post-operative blood loss after total knee arthroplasty: a prospective randomised controlled trial of 29 patients

INTRODUCTION: Extensive blood loss related to knee arthroplasty is quite normal and many patients require blood transfusions. Surgery and the use of pneumatic tourniquets lead to an increase in the activity of the fibrinolytic system, which in turn may accentuate the blood loss. Drugs that inhibit the fibrinolytic system may thus be used to reduce blood loss. Tranexamic acid (TA) acts by binding to one of the enzymes at the start of the coagulation cascade, so inhibiting the fibrinolytic system. A concern is that this inhibition may have the side effect of increasing thromboembolic disease, a common complication of joint replacement surgery. We aimed to confirm the reductions in blood loss and to assess the impact of TA usage on clinical and sub-clinical DVT. METHOD: We performed a prospective, randomised, double blind, controlled trial, using patients due to undergo primary unilateral total knee arthroplasty. Patients were randomised to receive either 15 mg/kg of tranexamic acid or a similar volume of normal saline at the time of cementing of the prosthesis. Perioperative blood loss was recorded and patients were screened for DVT with duplex ultrasound assessment of both legs on the fifth post-operative day. RESULTS: A statistically significant (p=0.006) decrease in blood loss in the early post-operative period was noted in the group receiving tranexamic acid. This was not associated with a significant difference in total blood loss (p=0.55) or in transfusion requirements. There was no of evidence in DVT in either group on duplex ultrasound screening of the lower limbs. INTERPRETATION: One injection of 15 mg/kg of tranexamic given at the time of cementing the prosthesis in total knee arthroplasty, before deflation of the tourniquet, significantly decreases the amount of blood loss in the early post-operative period. The treatment was not associated with an increase in thromboembolic complications.     

Epiphyseal distraction monitored by strain gauges. Results in seven children

Ten epiphyses in seven children underwent fixed-rate distraction of 0.25 mm twice daily in an attempt to achieve percutaneous leg lengthening by chondrodiatasis. The forces generated across the growth plate were recorded by means of strain gauges incorporated into the distractors. All epiphyses fractured before 33 days of lengthening. An average gain of 6.75 cm was achieved. Epiphyseal distraction at the lower femur produced many complications, but at the upper tibial epiphysis planned lengthening was achieved, with excellent bone production and few complications.     

Anderson-Fabry disease-family linkage studies using two polymorphic X-linked DNA probes

Anderson-Fabry disease is an X-linked lysosomal storage disorder due to -galctosidase A deficiency. In affected males there is a high mortality in early adult life due to renal failure and cardiovascular complications. We describe our preliminary results from genetic linkage studies in five families using two polymorphic DNA probes, DXS17 and DXYS1, mapping to an area on the long arm of the X chromosome between Xq13–22. DXS17 identified a Taql polymorphism closely linked to the disease locus in three families (lod_max Z=4.23. at a recombination fraction =0.0). Restriction fragment length polymorphisms detected by DXYS1 were not linked.