Children in Adult Intensive Therapy Units

From experience in the Northampton/Kettering area 9 to 10% of all patients in a general hospital requiring care in an intensive therapy unit were aged 12 years or under. Fifty-nine children were admitted to the intensive therapy unit of Northampton General Hospital between May 1967 and August 1969. Of these, 22 had been injured in road traffic accidents, five were surgical emergencies, five had meningitis, four status epilepticus, and four respiratory infections.All of the 30 families interviewed were in favour of their child being admitted to the unit, and none considered that the experience had had any lasting adverse psychological effect on the child. It is suggested that certain carefully selected child patients do benefit from the facilities of an intensive therapy unit, and for this reason such units must be designed, equipped, and staffed with this in mind.     

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations.     

Early Siberians from Lake Baikal and Alaskan population affinities

Among the materials excavated by the 1975 joint USSR–USA team in Siberia are two burials from Shaman's Cape, Olkhon Island, Lake Baikal. One is a middle-aged male of the Serovo culture, 6,000 B.C. , and the other is a young male of the Glaskovo culture of 2,000 B.C. This later burial displays an unusual pathology affecting the nose and post-cranial regions of the pelvic girdle and lower limbs. Osteon analysis confirms the determination of age at death and illustrates the difference between normal and pathological bone. Numerous cultural materials were associated with these burials, including harpoon heads, knives, a compound fishhook and a pestle with the Serovo man, and nephrite ornaments with the Glaskovo man. The skulls, though far apart in time, are pronouncedly Mongoloid and alike in their low cranial vaults. A low, broad and inclined ascending ramus resembles Chukchi, Eskimos and Aleuts. These two specimens document the Mongoloid character of the early inhabitants of Lake Baikal.