A 61-year-old female died in hospital with multiple organ failure 4 weeks following presentation with acute kidney injury, hemolytic anemia and methemoglobinemia. At autopsy, brown to black discoloration of cartilages was observed. Histology revealed brown pigmentation of the hyaline cartilage, with focal full-thickness erosion of the articular hyaline cartilage, characteristic of alkaptonuria (ochronosis). Although alkaptonuria is rarely fatal, this case illustrates a rare acute fatal complication. Accumulation of circulating homgentisic acid secondary to acute derangement of renal function is believed to have overwhelmed the endogenous antioxidant processes, resulting in hemolysis and methemoglobinemia, which were refractory to treatment. Small numbers of cases have previously been reported in the literature in patients known to suffer with the disease, all of which were preceded by acute kidney injury. Whilst the clinical diagnosis of alkaptonuria may be challenging, the autopsy findings of this rare condition are striking and this case illustrates the utility of the autopsy, albeit retrospectively, in arriving at a diagnosis. To our knowledge this is the first reported case where previously undiagnosed alkaptonuria has presented with methemoglobinemia.

Cardiac ochronosis is a rare complication of alkaptonuria, a disorder of tyrosine metabolism characterized by a triad of dark urine, pigmentation of tissues, and ochronotic arthropathies. When present, cardiac ochronosis generally affects the aortic valve resulting in aortic stenosis. More rarely, it may affect the mitral valve and the coronary arteries. We describe the case of a 67-year-old lady with a history of alkaptonuria with severe ochronosis of the coronary arteries and mitral valve, requiring coronary bypass and mitral valve replacement.

The internal knee abduction moment (KAM) in osteoarthritis is reduced by increased lateral trunk lean (TL). Mechanistically, this occurs as the Centre of Mass (COM) moves further over the stance leg. Since the size of the base of support constrains the COM, an associated increase in step width (SW) would be expected to maintain stability. This study tested the effects of TL on SW and KAM in healthy participants (n = 21) who performed normal and 6° TL walks. The latter was controlled via audio-visual biofeedback. We found two distinct gait strategies in TL walk: widening the step width substantially (>50%) to permit an increase in the COM displacement (WSW, n = 13), or maintaining a baseline SW and minimally displacing the COM by moving the hip/pelvic complex in the opposite direction (NSW, n = 8). WSW doubled SW (11.3 ± 2.4 v. 24.7 ± 5.5 cm, p < .0001), NSW did not change SW (12.2 ± 2.8 v. 13.7 ± 4.7 cm, p > .05). These two distinct gait strategies resulted in unique patterns of KAM reduction across the stance phase. NSW reduced KAM impulse significantly in the initial half (0.08 ± 0.02 v. 0.06 ± 0.02, p = .04) but not in the later stance phase (0.07 ± 0.02 v. 0.07 ± 0.04, p > .05). WSW reduced KAM significantly in both initial (0.11 ± 0.03 v. 0.08 ± 0.04, p < .001) and later stance phase (0.09 ± 0.02 v. 0.06 ± 0.03, p < .001). KAM peak results followed the pattern of impulse. This study has revealed two distinct mechanisms for increasing lateral trunk lean which can be used to explain discrepancies in past research and in the future could be used to individualise gait re-training strategies.

Homogentisic acid (HGA) is a diagnostic metabolite that accumulates in the urine and tissues of patients with alkaptonuria which is a rare autosomal recessive disease. HGA is a specific metabolite in urine and serum, which is used for diagnosis of alkaptonuria. This study presents an inexpensive and easy capillary electrophoretic method for the quantitative determination of HGA in urine samples. The method was optimized using full factorial experimental design. The optimal separation electrolyte and separation voltage were revealed as 45 mmol/L phosphate buffer at pH 7.0 and 22 kV, respectively. Under these conditions the presence of HGA was detected in 6 min. Repeatability of migration times and corrected peak areas of HGA (as RSD) were 0.37 and 1.99, respectively. The detection limit was 0.56 μg/mL, 3 times of the average noise, and the quantification limit was 1.85 μg/mL, 10 times the average noise for HGA. Urine samples were directly injected to the capillary without any pretreatment step.