Severe infantile hypotonia with ethylmalonic aciduria: case report.

An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings, short-chain acyl-coenzyme A dehydrogenase deficiency was suspected. Because 625G>A and 511C>T (C-to-T substitution at nucleotide 511) genetic variations are also present in 14% of the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger as well as cellular, biochemical, and other genetic factors. It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders.

A Klebsiella pneumoniae liver abscess presenting with myasthenia and tea-colored urine: A case report and review of 77 cases of bacterial rhabdomyolysis.

RATIONALE: Rhabdomyolysis is a well-known syndrome in clinical practice, although rhabdomyolysis caused by a liver abscess is rarely reported and the patient may lack symptoms that are associated with a primary site of infection. Early recognition of this possibility is needed to avoid diagnostic delay and facilitate treatment. We report the case of a 71-year-old woman with a Klebsiella pneumoniae (KP) pyogenic liver abscess who presented with myasthenia and tea-colored urine and also review the 77 reported cases of bacterial rhabdomyolysis. PATIENT CONCERNS: The patient was 71 years old and presenting with a 7-day history of myasthenia and a 3-day history of tea-colored urine, but without fever or abdominal pain. DIAGNOSES: Laboratory testing in our case revealed rhabdomyolysis, and blood culture revealed KP. Abdominal ultrasonography revealed a hypoechoic enclosed mass, and computed tomography (CT) revealed an enclosed low-density mass (8.3 × 6.6 × 6.1 cm). The main diagnoses were a pyogenic liver abscess with rhabdomyolysis. INTERVENTIONS: Empirically intravenous piperacillin-sulbactam and intravenous potassium treatment, as well as fluid infusions and other supportive treatments were provided after admission. After the diagnosis was confirmed and susceptibility test results were available, we adjusted the antibiotics to cefoperazone and sulbactam, which were maintained for 6 weeks. OUTCOMES: The patient's symptoms relieved and the abnormal laboratory parameters corrected. Follow-up abdominal ultrasonography at 24 months after her discharge revealed that the abscess had disappeared. LESSONS: Early recognition and careful consideration of the underlying cause of rhabdomyolysis are critical to improving the patient's prognosis. Thus, physicians should carefully consider the underlying cause in elderly patients who present with rhabdomyolysis, as they may lack symptoms of a primary infection.

Association of habitual dietary resveratrol exposure with the development of frailty in older age: the Invecchiare in Chianti study.

BACKGROUND: Resveratrol may play a protective role against the frailty syndrome (FS) because of its antioxidant and anti-inflammatory properties. OBJECTIVE: We prospectively evaluated the association between habitual dietary resveratrol exposure and the development of FS after 3-, 6-, and 9-y follow-up periods in a community-dwelling older population. DESIGN: We conducted a longitudinal analysis with the use of data from 769 participants aged ≥65 y from the Invecchiare in Chianti (Aging in Chianti) study. Total dietary resveratrol (TDR) intake was estimated at baseline with the use of a validated food-frequency questionnaire, which was developed to assess participants' usual food intakes over the previous year, and an ad hoc resveratrol database. Total urinary resveratrol (TUR) was analyzed with the use of liquid chromatography-tandem mass spectrometry with a previous solid-phase extraction at baseline. The combination of both measures [total dietary resveratrol plus total urinary resveratrol (TDR+TUR)] was computed with the use of the Howe's method. FS was assessed at baseline and at 3-, 6-, and 9-y of follow-up and was defined as the presence of ≥3 of the following 5 criteria: shrinking, exhaustion, sedentariness, slowness, and weakness. RESULTS: TDR+TUR concentrations were inversely associated with FS risk over 3-y of follow-up (OR for comparison of extreme tertiles: 0.11; 95% CI: 0.03, 0.45; P-trend = 0.002) but not after 6- and 9-y of follow-up in multinomial logistic regression models adjusted for baseline frailty status and potential confounders. These results did not differ when analyses were further adjusted for inflammatory markers. CONCLUSION: Higher habitual dietary resveratrol exposure was associated with lower risk of older community dwellers developing FS during the first 3 y of follow-up but not after longer follow-up periods.