A family with autosomal dominant distal arthrogryposis multiplex congenita and brown syndrome.

Arthrogryposis multiplex congenita is a heterogeneous condition found in a number of different disorders and characterized by congenital joint contractures. We describe typical signs of congenital Brown syndrome (inability to elevate the affected eye actively or passively in full adduction) in three relatives with distal arthrogryposis multiplex congenita. We found a thickening of the superior oblique muscles in these patients with pain and increased intraocular pressure in upgaze. The pathogenesis of clinical and morphological findings is discussed. The association of Brown syndrome with distal arthrogryposis multiplex congenita has not been previously reported and provides us with an important point of reference in the understanding of both syndromes.

Growth hormone and IGF-I in diabetic children with and without microalbuminuria.

In order to evaluate the relationship between urinary GH, urinary IGF-I and plasma IGF-I levels and presence of incipient diabetic nephropathy in paediatric age, we studied fifty (25 male and 25 female) prepubertal patients with insulin-dependent diabetes mellitus (T1DM). The patients were subdivided into two groups according to the presence of persistent microalbuminuria defined as albumin excretion rate (AER) >20 microg/min in at least 5 urine collections in the 6 months prior to the beginning of the study: Group A: 18 patients with microalbuminuria; Group B: 32 patients without microalbuminuria. A group of 20 healthy subjects, sex-, age- and pubertal stage-matched, served as control. No difference was observed between the urinary output of IGF-I and GH and plasma IGF-I values between normoalbuminuric and control subjects (normoalbuminuric vs controls: urinary GH: mean+/-SD 7.9+/-0.7 ng/day vs 8.1+/-0.6; urinary IGF-I: 178.3+/-19.7 ng/day vs 175.5+/-20.3; plasma IGF-I: 203.9+/-31.2 ng/ml vs 199.4+/-43.2), but a significant difference was observed between the urinary output of IGF-I and GH and plasma IGF-I levels between microalbuminuric patients and normoalbuminuric and controls (microalbuminuric subjects: urinary GH: 13.1+/-1.4 p<0.01; urinary IGF-I: 451.3+/-45.9 p<0.001; plasma IGF-I: 326.5+/-63.2 p<0.01). Moreover, plasma IGF-I, urinary GH and urinary IGF-I were not significantly associated with microalbuminuria, while plasma IGF-I levels were positively related to glomerular filtration rate (GFR) (p<0.05). In conclusion, our study demonstrates that microalbuminuric patients have higher levels of urinary IGF-I, urinary GH, plasma IGF-I than normoalbuminuric diabetic subjects. These data support the hypothesis that IGF-I can have a role in the changes of renal function observed in patients with persistent microalbuminuria.

Elevated levels of circulating immunostimulatory 90K in Henoch-Schoenlein purpura.

In order to clarify the immunologic reaction present in Henoch-Schoenlein purpura (HSP), 20 children (11 boys and 9 girls; median age, 5.8 +/- 2.8 years) with HSP and 20 sex- and age-matched healthy children were studied. The 90K/Mac-2 BP serum concentrations were significantly higher in the patients than in the healthy controls (12.5 +/- 7.5 vs 4.5 +/- 2.7 micrograms/ml, respectively; P < 0.0001). 90K/Mac-2 BP values higher than the cutoff value were observed in 13 of 20 (65%) patient. The soluble intercellular adhesion molecule 1 concentrations were significantly higher in HSP patients than controls (P < 0.0001), with mean values of 1631 +/- 703 and 85 +/- 16 ng/ml, respectively. The 90K/Mac-2 BP serum levels were significantly correlated with soluble intercellular adhesion molecule 1 (r = 0.90, P < 0.0001). Although the underlying causes of these immunological abnormalities are unclear, these observations suggest that the 90K/Mac-2 BP protein may play a role in the immunological reactions involved in the development of HSP.

Relationship between contrast sensitivity and metabolic control in diabetics with and without retinopathy.

Contrast sensitivity was studied in diabetic adolescents and young adults with and without retinopathy in order to evaluate their central vision, to analyze the relationship of metabolic control to the presence and severity of retinopathy, and to re-evaluate the response to this test after a significant improvement in metabolic control. Twenty adolescent and young adult diabetics without retinopathy and 40 diabetics with retinopathy of varying degree were enrolled in the study; 20 healthy age and sex-matched subjects served as controls. Contrast sensitivity was assessed with a CSV-1000 contrast testing instrument, testing for four spatial frequencies, 3, 6, 12 and 18 cycles per degree (cpd). Diabetics with no retinopathy showed a weak but significant difference at 18 cpd compared with controls (P = 0.04), while diabetics with background retinopathy showed a significant reduction of contrast sensitivity at 12 and 18 cpd when compared with controls (P < 0.001). In patients with preproliferative/proliferative retinopathy a highly significant reduction of contrast sensitivity at all frequencies was found compared with controls. Furthermore, these patients had a significantly lower mean contrast sensitivity than patients without retinopathy. The patients were re-evaluated after a significant amelioration of metabolic control. An improvement in contrast sensitivity was found in diabetics without retinopathy and with background retinopathy, while there was no change observed in diabetics with severe retinopathy. These results show that diabetic adolescents and young adults with and without signs of retinopathy observed by fluorescein angiography have a reduced contrast sensitivity, which is more severe in patients with preproliferative/proliferative retinopathy. A significant amelioration of metabolic control is associated with an improvement of contrast sensitivity in all patients with the exception of those patients who had signs of preproliferative/proliferative retinopathy observed by fluorescein angiography. In summary, this longitudinal study provides the first evidence that reduced contrast sensitivity is reversible in diabetics with or without background retinopathy only.