Radiogrammetry remains a convenient method of bone mass measurement. It is the only objective means of quantifying metacarpal osteoporosis (OP) in rheumatoid arthritis (RA). An automated technique using a digitizer (interfaced with an IBM PC) for measurement of combined cortical width (CCW) at the mid-shaft of six metacarpals was evaluated in three groups of individuals under 50 years of age (98 normal controls, 96 RA, 63 SLE). Intra-observer, inter-observer, and inter-institution reproducibility was assessed with a 'phantom' embedded in a rectangular mould of wax. Intra-patient variation was also assessed in RA patients seen on two occasions less than a month apart. Two hundred and fifty-seven subjects were studied. The method was found to be reproducible for a single observer, among five different observers and in two separate institutions. The RA subjects seen on two occasions showed no significant differences in CCW. The technique showed significant differences of CCW in the three groups of premenopausal subjects (controls; RA; SLE) studied (p less than 0.001). The six metacarpal bone mass was calculated in less than 5 min. The technique of digitized radiogrammetry is an improvement on the Vernier caliper technique. The method is useful for epidemiological cross-sectional studies and for evaluation of long-term radiological changes in RA.

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Summary:A case ofnon-cirrhotic portal hypertension in a patient with systemic lupus erythematosus, the first to our knowledge, is described. Severe pulmonary hypertension was associated with the portal hypertension and with markers of active auto-immunity. Pulmonary hypertension has not previously been associated with non-cirrhotic portal hypertension. The coexistence of vasculopathy of the portal and pulmonary vascular beds in this patient with active autoimmunity supports the postulate that portal-pulmonary hypertension may be immunologically mediated.

We report the prevalence of metacarpal cortical thinning in systemic lupus erythematosus (SLE). Fifty-eight ambulant female patients attending a lupus clinic (mean age 32.4 years), were found to have significant thinning of metacarpal cortices (p < 0.05) when compared with 63 normal females (mean age 34.1 years). However, metacarpal bone mass was within the normal range. Measurements were made at 6 metacarpals of the 2 hands using a computer-aided technique (digitized radiogrammetry). Femoral cortical width and Singh index at the left femur, as well as the vertebral index at L3 were also recorded. The trabecular indices were in the range of normality, but the SLE group had more patients in the immediately pre-osteopenic range. Metacarpal bone loss was not related to disease duration or corticosteroid therapy. The prevalence of osteopenia in SLE is probably underestimated and the pathogenesis is likely to be multifactorial.

Systemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. We have discovered that mutations in family with sequence similarity 111, member B (FAM111B) gene cause hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, a multisystem fibrotic condition with clinical similarities to SSc. This observation has established FAM111B as a candidate gene for SSc. Patients and Methods: Demographic and clinical characteristics of consenting adults with definite SSc were recorded. Blood DNA analysis was performed using the High-Resolution Melt technique, and samples with abnormal electropherograms were selected for Sanger sequencing to identify mutations. Ethnically-matched controls from the general South African population were used to verify the frequency of variants in FAM111B. Public databases such as 1000 Genomes and ExAC were also used to verify the frequency of variants in FAM111B. Results: Of 131 patients, 118 (90.1%) were female, and 78 (59.5%) were black Africans. Genetic analysis revealed two FAM111B genetic variants. The c.917 A > G variant (rs200497516) was found in one SSc patients, and one control, and was classified as a missense variant of unknown significance. The c.988 C > T variant (rs35732637) occurred in three SSc patients and 42/243 (17.3%) of healthy controls, and is a known polymorphism. Conclusion: One rare variant was found in a patient with SSc but has no functional or structural impact on the FAM111B gene. In this cohort, FAM111B gene mutations are not associated with SSc.