Ocular manifestations of systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a chronic, immunologic disorder that may affect multiple organ systems. Keratoconjunctivitis sicca is the most common ocular manifestation, but visual morbidity is usually due to retinal and neuro-ophthalmic manifestations of the disease. Ocular manifestations of lupus are a reflection of systemic disease. The presence of ocular manifestations should alert the clinician to the likely presence of disease activity elsewhere. Therefore, all patients with ocular lupus should be carefully evaluated for systemic involvement to detect potentially treatable and preventable complications of the disease. In addition, the ophthalmologist should include SLE in the differential diagnosis of many retinal vascular and neuro-ophthalmic disorders. The ophthalmologist may play an important role in the care of patients with SLE, since ocular inflammatory lesions may precede potentially serious extraocular disease.     

Voluntary and involuntary adaptation of gait in Parkinson's disease

Voluntary and involuntary adaptation of gait in Parkinson's disease (PD) were studied in two separate experiments. In the first experiment, effects of changes in voluntary control were studied by asking PD patients and age-matched healthy subjects to adapt their walking pattern to visual cues resulting in spatial constraints, and auditory cues resulting in temporal constraints on stepping movements. In the second experiment, the adaptation to increases in speed during overground and treadmill walking was studied. Most patients were able to adapt their walking patterns in accordance with instructions. Notwithstanding consistent differences in step length, the adaptation to different conditions under study was highly similar in PD patients and healthy subjects. Only during walking with visually guided step length were the observed adaptations in PD patients less consistent. Contrary to these dissimilarities, the involuntary adaptation of timing of support and swing phases within the stride cycle was very similar between groups. In all conditions, only with changes in step length could a change in relative timing be observed. Our findings show that voluntary adaptation of gait is possible in PD and that basic involuntary coordination mechanisms are preserved. The observed disturbances in stride length regulation probably reflect an inability to perform fast movements in PD. Copyright 1998 Elsevier Science B.V.     

The survival motor neuron protein in spinal muscular atrophy

The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and centromeric SMN (SMN(C)). Mutations in SMN(T), but not SMN(C), cause proximal spinal muscular atrophy (SMA), an autosomal recessive disorder that results in loss of motor neurons. SMN is found in the cytoplasm and nucleus. The nuclear form is located in structures termed gems. Using a panel of anti-SMN antibodies, we demonstrate that the SMN protein is expressed from both the SMN(T) and SMN(C) genes. Western blot analysis of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, particularly in type I (most severe) patients. Immunocytochemical analysis of SMA patient fibroblasts indicates a significant reduction in the number of gems in type I SMA patients and a correlation of the number of gems with clinical severity. This correlation to phenotype using primary fibroblasts may serve as a useful diagnostic tool in an easily accessible tissue. SMN is expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. In SMA patients, the SMN level was moderately reduced in muscle and lymphoblasts. In contrast, SMN was expressed at high levels in spinal cord from normals and non- SMA disease controls, but was reduced 100-fold in spinal cord from type I patients. The marked reduction of SMN in type I SMA spinal cords is consistent with the features of this motor neuron disease. We suggest that disruption of SMN(T) in type I patients results in loss of SMN from motor neurons, resulting in the degeneration of these neurons.      

Pelvic masses in pregnant patients: MR and US imaging

Sixteen pregnant patients with pelvic masses detected with ultrasound (US) were studied with magnetic resonance (MR) imaging at 0.35 T. Two patients were in their first trimester, eight in the second, and six in the last. On MR images, 34 masses were seen, including 19 uterine leiomyomas. With US, 20 masses were detected. All masses not seen with US were leiomyomas. Only 20 masses (in 11 patients) were removed for histologic study. In nine cases, MR imaging and US provided similar information on the origin, extent, and type of mass. In seven patients, MR imaging contributed additional information. MR imaging depicted more leiomyomas than US in three patients. In another case, MR images showed that a mass depicted with US was actually a loop of bowel. MR images allowed differentiation between a solid soft-tissue mass and a hemorrhagic fluid-containing mass, correctly depicted the presence of an abdominal pregnancy, and allowed evaluation of the parametrium for spread of cervical carcinoma.     

Surgical management of cataracts in children with juvenile rheumatoid arthritis-associated uveitis

Purpose

To evaluate outcomes of cataract surgery with posterior chamber intraocular lens (IOL) implantation with or without trabeculectomy in children with juvenile rheumatoid arthritis (JRA)-associated uveitis.

Design

Interventional case series.

Methods

Retrospective chart review of five patients aged 12 years or younger with JRA-associated uveitis who underwent cataract surgery with posterior chamber IOL with or without trabeculectomy at the Cleveland Clinic Foundation from December 1995 to October 2001.

Results

Four female patients and one male patient ranging from age 7 to 12 years were identified. One patient had bilateral involvement; six eyes were included in the study. Three eyes underwent cataract extraction with posterior chamber IOL, and three underwent combined cataract surgery with posterior chamber IOL and trabeculectomy. Median age at surgery was 8.5 years, with a median follow-up of 43.5 months. Four of five children (five eyes) were on systemic methotrexate immunosuppressive therapy for a median length of 1.25 years before surgery. Two of five patients (three eyes) were also on additional systemic immunosuppressive or anti-inflammatory treatments. All eyes received frequent topical corticosteroid therapy for a median of 2 weeks preoperatively and 8.5 weeks postoperatively. A final postoperative Snellen visual acuity of 20/40 or better was achieved in all children. A median final visual acuity improvement of 7 Snellen lines was observed after cataract surgery.

Conclusions

With adequate long-term preoperative and postoperative control of intraocular inflammation with systemic immunosuppressive therapy in addition to intensive topical corticosteroid treatment, children with JRA-associated uveitis can demonstrate favorable surgical outcomes after cataract surgery with posterior chamber IOL.     

Effect of hypoglycemia on extracellular levels of cyclic AMP in man.

This study was designed to assess the response of cyclic AMP to "endogenous" hormonal stimulation resulting from insulin-induced hypoglycemia. Insulin was administered to four normal subjects and four adrenalectomized patients. Hypoglycemia resulted in four-fold increases in plasma cyclic AMP. This response is thought to be secondary to beta-adrenergic stimulation for the following reasons: (1) the response was absent in adrenalectomized, cortisol-treated subjects; (2) it was abolished by propranolol; and (3) urinary excretion of cyclic AMP did not reflect the rise in plasma cyclic AMP.