Fumarylacetoacetase mutations in tyrosinaemia type I

Sixty-two hereditary tyrosinaemia type I (HT1) patients of various ethnic origins were classified clinically into acute, chronic, or intermediate phenotypes and screened for the 14 published causal mutations in the fumarylacetoacetase (FAH) gene. Restriction analysis of PCR amplified genomic DNA identified 74% of the mutated alleles. IVS12+5G→A, predominant in the French Canadian HT1 patients, was the most common mutation found in 32 alleles in patients from Europe, Pakistan, Turkey, and the United States. IVS6-1G→T, encountered in 14 alleles, was common in Central and Western Europe. There was an apparent “Scandinavian” 1009G→A combined splice and missense mutation (12 alleles), a “Pakistani” 192G→T splice mutation (11 alleles), a “Turkish” D233V mutation (6 alleles), and a “Finnish” or northern European W262X mutation (7 alleles). The remaining mutations were rare. Some of the mutations seem to predispose for acute and other for more chronic forms of HT1, but in our material no clearcut genotype phenotype correlation could be established. © 1996 Wiley-Liss, Inc.     

Rey auditory-verbal learning test: Structure analysis

One of the major advantages of the Rey Auditory-Verbal Learning Test (AVLT) is its multiple measures of learning and memory. This study evaluated empirically whether the different scores are, in fact, not merely different expressions of a single factor, but, rather, measures of different memory domains. The Rey AVLT was administered to 146 normal subjects. Factor analyses produced one, two, or three factors depending on the combination of scores included in the analysis and on the criteria used to determine the number of factors. The basic factors identified were acquisition and retention. The latter can be subdivided further into storage and retrieval, thus yielding a total of three factors.     

Coronavirus Disease Spread during Summer Vacation,Israel, 2020

The relative increase in coronavirus disease incidence during summer 2020 in Israel was most prominent in young children. This finding contrasts with the lower increase in incidence observed in children than in adults during the school attendance period. School closure without lockdown conditions might not be independently effective at reducing spread.     

Overuse of organ biopsies in immunoglobulin light chain amyloidosis (AL): the consequence of failure of early recognition

Introduction: The diagnosis of amyloidosis requires histological confirmation of Congo-red (CR) deposits. The tissue source is preferably fat aspiration and/or bone marrow (BM) biopsy, but at times organ biopsy is required.

Methods: We studied 612 patients with systemic immunoglobulin light chain amyloidosis to characterise the tissues used to establish the diagnosis.

Results: The median number of tissue samples was 3. About 95% of BM biopsies were stained for CR, while 79% of patients had fat aspiration CR-stained. CR stain sensitivity was 69% in BM, 75% in fat aspiration and 89% for both sources combined. In comparison, CR sensitivity was 97–100% for heart, renal and liver biopsies. About 42% of patients with renal involvement, 21% of patients with liver involvement and 13% of patients with heart involvement underwent organ biopsy, when a less invasive biopsy would have established the diagnosis. Predictors for the requirement for organ biopsy were male sex, limited organ involvement and lack of fat aspiration.

Discussion: Fat aspiration is underutilised for histologic confirmation of amyloidosis. A high rate of organ biopsies represents a failure to recognise the disease. Early awareness of amyloidosis in patients with organ dysfunction may lead to more judicious use of organ biopsies in this disease.

• Key messages

• Fat pad aspiration is underutilised to establish the diagnosis of amyloidosis.

• Bone marrow and fat pad aspiration obviates the need for invasive biopsies.

• The excessive use of organ biopsy in AL amyloidosis reflects failure to recognise the disease early in its course.

     

Mobile ECMO in COVID-19 patient: case report

Journal of Artificial Organs - At July 25, 2020, WHO had recorded more than 16.1 million confirmed COVID-19 cases, 1% of them developed critical illness. These patients can experience rapid...