Localization of prefoldin interaction sites in the hyperthermophilic group II chaperonin and correlations between binding rate and protein transfer rate

Prefoldin is a molecular chaperone that captures a protein-folding intermediate and transfers it to a group II chaperonin for correct folding. The manner by which prefoldin interacts with a group II chaperonin is poorly understood. Here, we have examined the prefoldin interaction site in the archaeal group II chaperonin, comparing the interaction of two Thermococcus chaperonins and their mutants with Pyrococcus prefoldin by surface plasmon resonance. We show that the mutations of Lys250 and Lys256 of Thermococcus alpha chaperonin residues to Glu residues increase the affinity to Pyrococcus prefoldin to the level of Thermococcus beta chaperonin and Pyrococcus chaperonin, indicating that their Glu250 and Glu256 residues of the helical protrusion region are responsible for relatively stronger binding to Pyrococcus prefoldin than Thermococcus alpha chaperonin. Since the putative chaperonin binding sites in the distal ends of Pyrococcus prefoldin are rich in basic residues, electrostatic interaction seems to be important for their interaction. The substrate protein transfer rate from prefoldin correlates well with its affinity for chaperonin.     

Comportamiento adaptativo de las personas con limitación funcional: la adaptación funcional de la vivienda en España

Introduction

Most elderly people or those with disabilities wish to stay in their own home rather than any other residential option, even when long-term care is required. The functional adaptation of homes is one of the key factors in doing this with safety and quality of life. This paper investigates whether people with disabilities (arising mainly from their advanced age) develop adaptive behaviours aimed at compensating for their functional loss through improvements in their home and environment, as well as knowing the covariables that explain it.

Holocene glaciations in the Ema Glacier valley, Monte Sarmiento Massif, Tierra del Fuego

Investigations carried out in the Ema Glacier valley, Tierra del Fuego, on the eastern side of Monte Sarmiento Massif, enable the recognition of five Holocene glacial events. The oldest glacial advance deposited the so-called external moraines of Ema Glacier, with a probable occurrence between 6000 and 5000 14 C y BP without discarding the potential for these deposits to be from Lateglacial time. The remaining four readvances built up a complex inner moraine system named informally internal moraines of Ema Glacier. The oldest recognized till unit that constitutes this proximal moraine system was deposited shortly before 3135 14 C y BP, when glaciolacustrine sedimentation took place during glacier recession. Subsequent glacial advances accumulated till at about 1288 14 C y, shortly after 695 14 C y, and between 379 14 C y and 60 y BP. This chronology of Holocene glacier events coincides with and is well complemented by the one established by other authors for Fiordo Pía at Cordillera Darwin, 75 km to the east. The Ema-Pía chronology is used to calibrate tentatively a series of moraine belts previously identified in the mountain ranges adjacent to Ushuaia, 150 km SE of the surveyed region. A comparative chart shows that the chronological data obtained for the neoglacial readvances in Tierra del Fuego are in accordance with those for the southern Patagonian Andes further north. It follows that the Holocene behavior of the glaciers in the Andean region of Tierra del Fuego and southern Patagonia is essentially a response to the same regional climate change.     

Prenatal diagnosis of de novo interstitial deletions involving 5q23.1–q23.3 and 18q12.1–q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect

We present prenatal diagnosis of de novo interstitial deletions involving 5q23.1–q23.3 and 18q12.1–q12.3 by aCGH using uncultured amniocytes in pregnancy with interrupted aortic arch and atrial septal defect in a fetus. The fetus postnatally manifested facial dysmorphisms and long slender fingers. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of FBN2, DTNA and CELF4 in this case.     

Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia,arthrogryposis, scoliosis and hyperextensible joints

We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype–phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.     

La información del diagnóstico en la demencia

Dementia is a syndrome characterized by a progressive deterioration of cognitive functions, accompanied by psychiatric symptoms and behavioral disturbances that produce a progressive and irreversible disability. The way it should communicate the diagnosis of dementia is a key discussion point on which there is no unanimous agreement so far. The communicating of the diagnosis of dementia is a complex issue that affects not only, the patient but also to caregivers and health professionals who care and must conform to the ethical principles governing medical practice (autonomy, nonmaleficence, beneficence, and justice). Therefore, from the Dementia Working Group of the Catalan Geriatric Society (Grupo de Trabajo de Demencia de la Sociedad Catalana de Geriatría) arises the need to review the issue and propose a course of action for the disclosure of diagnosis.     

Possible Trichosporon asahii urinary tract infection in a critically ill COVID-19 patient

BackgroundTrichosporon asahii, an emerging fungal pathogen, has been frequently associated with invasive infections in critically ill patients.Case reportA 74-year-old male patient diagnosed with COVID-19 was admitted to an Intensive Care Unit (ICU). During hospitalization, the patient displayed episodes of bacteremia by Staphylococcus haemolyticus and a possible urinary tract infection by T. asahii. While the bacterial infection was successfully treated using broad-spectrum antibiotics, the fungal infection in the urinary tract was unsuccessfully treated with anidulafungin and persisted until the patient died.ConclusionsWith the evolving COVID-19 pandemic, invasive fungal infections have been increasingly reported, mainly after taking immunosuppressant drugs associated with long-term broad-spectrum antibiotic therapy. Although Candida and Aspergillus are still the most prevalent invasive fungi, T. asahii and other agents have emerged in critically ill patients. Therefore, a proper surveillance and diagnosing any fungal infection are paramount, particularly in COVID-19 immunocompromised populations.     

Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families

Split-hand/split-foot malformation (SHFM), representing variable degree of median clefts of hands and feet, is a genetically heterogeneous group of limb malformations with seven loci mapped on different human chromosomes. However, only 3 genes (TP63, WNT10B, DLX5) for the seven loci have been identified.     

Influence of climate oscillations on dentinal deposition in teeth of Commerson's dolphin

Effects of climatic oscillations on populations in marine environments are produced mainly through the lower trophic levels. Marine mammals, as top predators, are affected indirectly by these fluctuations, showing variations in their survival, growth and reproduction. The main objective of this study was to determine whether we could detect the effect of climatic oscillations on Commerson's dolphins (Cephalorhynchus c. commersonii) off Tierra del Fuego, Argentina, by examining the presence and proportion of anomalous dentinal growth layer groups (GLGs). The relative deposition of anomalous GLGs was determined using calendar years from 1960 to 2005, and related to the Southern Annular Mode (SAM) and El Niño Southern Oscillation (ENSO) events, and to mean annual sea surface temperatures (SST). Then, growth parameters between animals that did and did not show anomalous dentinal growth layer patterns in one or more of their GLGs were compared. The presence of anomalous GLGs was related to the SAM, increasing in frequency with negative values of the SAM. No relationship was found among anomalous GLGs, ENSO, and SST. There were no significant differences in growth parameters between animals with and without anomalous GLGs. Using recording structures such as teeth provided a unique way of reconstructing time series to evaluate the effects of these climatic patterns on a top predator species in an area where no similar studies have been conducted, primarily due to a lack of suitable long‐term data sets.     

Cloning and expression of the leucine gene from Thermus thermophilus in Escherichia coli

A pBR322-T.leu hybrid plasmid was constructed which contains a 3.75 Md HindIII-fragment derived from Thermus thermophilus HB27 chromosomal DNA. In the Escherichia coli host, this plasmid coded for the β-IPM dehy drogenase (product of leuB) activity, the optimal temperature of which was 80°C, suggesting that information on the thermostability of the enzyme lies in its structural gene. 10-day propagation of E. coli [pBR322-T.leu] at 37°C decreased the temperature optimum from 80°C to 75°C. This change, which was found to depend on the plasmid but not on the host cells, might be due to selection of some mutation at the non-restrictive temperature of 37°C. Our results suggest that the 3.75 Md HindIII-fragment of pBR322-T.leu carries a promoter of the thermophile, which could function in E. coli.