Microbial contamination poses a threat to both the preservation of library and archival collections and the health of staff and users. This study investigated the microbial communities and potential health risks associated with the UNESCO-classified Norwegian Sea Trade Archive (NST Archive) collection exhibiting visible microbial colonization and staff health concerns. Dust samples from book surfaces and the storage environment were analysed using culturing methods, qPCR, Next Generation Sequencing, and mycotoxin, cytotoxicity, and azole resistance assays. Penicillium sp., Aspergillus sp., and Cladosporium sp. were the most common fungi identified, with some potentially toxic species like Stachybotrys sp., Toxicladosporium sp., and Aspergillus section Fumigati. Fungal resistance to azoles was not detected. Only one mycotoxin, sterigmatocystin, was found in a heavily contaminated book. Dust extracts from books exhibited moderate to high cytotoxicity on human lung cells, suggesting a potential respiratory risk. The collection had higher contamination levels compared to the storage environment, likely due to improved storage conditions. Even though overall low contamination levels were obtained, these might be underestimated due to the presence of salt (from cod preservation) that could have interfered with the analyses. This study underlines the importance of monitoring microbial communities and implementing proper storage measures to safeguard cultural heritage and staff well-being.

The Norwegian Sea Trade Archive (NST Archive) from the University of Bergen Library, Norway, is part of the UNESCO documentary heritage and contains unique documentation of the activity of companies that traded in stock fish in Norway and Europe (16th-20th century). The archive consists primarily of bound paper manuscripts written mostly in brown ink. We have surveyed this collection using a multi-analytical approach focused on the material characterization and condition of the paper carrier and inks. Our main aim was to support decision-making on establishing storage conditions, digitisation priorities, and type and extent of conservation treatments necessary to make the collection accessible. After a first visual examination to detect and quantify damages, for the paper support analysis we measured surface pH, paper thickness and water absorbency. Additionally, on a quarter of all tested materials, we performed a SurveNIR analysis, providing information regarding paper pulp type, lignin, protein and rosin content, degree of polymerization, and mechanical properties. The archival material was grouped into three periods characterising the three milestones in paper production: handmade gelatine-sized rag papers, machine-made rag papers with gelatine and rosin sizing, and papers made from processed wood pulp. Regarding the manuscripts' inks, we used iron and copper tests to determine the presence of Fe-2, Cu2+ and Cu(+)ions, respectively. For the visual characterization and condition rating of the inks, we used the protocols described by the Netherlands Institute for Cultural Heritage. The variety of ink colours and thickness of the inked lines encountered in each document was noted down. Thus specific tendencies present in each historical period became apparent. Results of the solubility of ink in water and alcohol significantly narrowed treatment options. General tendencies of paper and ink degradation based on differences in papermaking were observed. Surface pH measurement, SurveNIR pH, rosin and protein concentration data showed that most rag papers were of poor to fair quality (pH <= 6.0 and low protein content (< 5 %)). Rosin-sized papers dated after 1840 had a lower pH (from 3.3 +/- 0.2 to 5.0 +/- 0.2) compared to gelatine-sized ones. Based on the obtained results, the overall condition of all the papers is good - slightly damaged but stable. The inks are not severely corroded, and there is no loss of text, although 20 % of the collection does show signs of iron-gall ink (IGI) corrosion. A limited number of documents, mostly before 1800, would require local antioxidative treatment. Due to the low pH of all the papers and the detection of ink corrosion, the collection should be stored in a cool environment, with low relative humidity. After the survey, digitisation priorities were also established. (c) 2024 The Authors. Published by Elsevier Masson SAS on behalf of Consiglio Nazionale delle Ricerche (CNR). This is an open access article under the CC BY -NC -ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )

The Natural History and Science Museum of the University of Porto houses a collection of 45 models of fungi in papier-mâché from the 19th-century, which were used at the university until 2015 as didactic models. For the first time, the materials and techniques used in the production of a Boletus edulis model were studied (vernacular name: cep, porcini). These sculptures, made to life-size scale, are painted in colors similar to those of the represented species (white, brown, and light brown). They are fixed to a rectangular base, which is painted black, and to which moss has been pasted. To fully characterize each color, at the molecular level, a multi-analytical approach was used, combining energy-dispersive x-ray fluorescence spectroscopy (micro-XRF) with fingerprinting techniques of Raman microscopy (microRaman and handheld Raman) spectroscopy and microFourier transform infrared spectroscopy (microFTIR). The papier-mâché was prepared with a groundwood paper to which kaolin and a quartz-based material have been added to reinforce the structure. Raman microscopy also identified carbon black in it, which is possibly responsible for its grey color. The white color was unequivocally identified as lithopone by microRaman. This white paint was prepared in a proteinaceous tempera, with calcium carbonate having been identified as filler (by microFTIR). In the brown color, iron was identified by microXRF, pointing to the use of ocher, which was not possible to identify by microRaman and microFTIR. Regarding the black rectangular base, the moss was fixed using a collagen-based glue. The binding medium in this black is possibly a mixture of drying oil and protein. Again, XRF detected iron as the main element, but it was not possible to acquire a Raman spectrum due to the high fluorescence of the binder/varnish. Others, such as the writing inks, will also be discussed. The colors identified are in line with the best materials available for use by artists of that time. This new knowledge is fundamental to informing the choice of the best conservation strategies for the preservation of these extraordinary models.

Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. The aim of this study is to present 7 cases with rare dyslipidaemias associated with low LDL or low HDL cholesterol values, referred to our laboratory for the genetic identification of the cause of the dyslipidaemia.Methods: Lipid profile was determined for each individual in an automated equipment Integra Cobas (Roche). Molecular analysis was performed by NGS with a target panel of 57 genes involved in lipid metabolism (Sure select QXT, Agilent) and samples were run in a NextSEQ Sequencer (Illumina). Only genes associated to rare forms of low HDL-c or LDL-c were analysed for this work, namely: ABCA1, APOA1, LCAT, SCARB1, APOB, PCSK9, MTTP, SAR1B, and ANGPTL3. All rare variants (MAF<5%) found in these genes were confirmed by Sanger sequencing.Results and discussion: This study includes 7 index cases (IC), with the following clinical diagnoses: Fish Eye Disease (1), Hypoalphalipoproteinemia (1) and Abetalipoproteinemia (ABL) / Familial Hypobetalipoproteinemia (FHBL) (5). We have identified one IC with a compound heterozygosity in LCAT causing Fish Eye Disease and one IC with a variant in ABCA1 in homozygosity causing Tangier disease. We found variants causing homozygous FHBL in 2 IC, one of whom has an undescribed pathogenic variant in homozygosity in APOB (c.12087+1G>A) and the other is a possible compound heterozygous for APOB variants c.2604+1G>A and c.4651C>T/p.(Gln1551*). In two patients only a variant in heterozygosity (c.3365delG/p.(Gly1122Vfs*62) and c.11095A>T/p.(Arg3699*)). In the remaining patient, no variants were identified. NGS proved to be a fundamental key for genetic testing of rare lipid disorders, allowing us to find the genetic cause of disease in 6/7 patients with low HDL-c and LDL-c. Patients with these rare conditions should be identified as early as possible in order to minimize or prevent clinical manifestations. The unsolved case is still under investigation.

Iron-gall inks are an essential element of our written cultural heritage that is at risk of a total loss due to degradation. This degradation leads to the loss of the support, particularly the cellulose-based support. Intending to stabilize it, we have come a long way from the nineteenth-century cellulose nitrate laminations to the relatively recent phytate treatments; nevertheless, less invasive treatments are needed. To pave the way for developing safer and more sustainable treatments, tailored as much as possible to the object, this paper reviews the conservation treatments and the advances that have taken place over the last decade in our understanding of the degradation mechanisms of iron-gall inks, based on a careful selection of references to support a concise microreview. This discussion is based on the currently accepted models based on the Fe 3+ -gallate and the identification of degradation products for iron-gall inks observed in heritage objects, including manuscripts dating from the fourteenth to seventeenth centuries and drawings from the fifteenth to nineteenth centuries. The degradation promoted by iron-gall inks induces scission of cellulose through acid catalysis and/or redox reactions. The causes of these acid-base and redox reactions are also assessed. Finally, we detail the state-of-the-art conservation treatments used to mitigate iron gall ink deterioration, covering treatments from the late nineteenth century to the beginning of the twentieth century, followed by the presentation of current phytate treatments and new postphytate treatments.

Zinc finger MYND domain-containing protein 11 (ZMYND11) gene has been shown to act as a transcriptional repressor by inhibiting the elongation phase of RNA Polymerase II. Pathogenic variants in ZMYND11 gene, predicted to result in haploinsufficiency or reduced protein function, have been associated to the following characteristics: intellectual disability (particularly speech delay and, in some cases, gross motor delay), behavioral abnormalities (including attention deficit, hyperactivity, impulsivity, aggression/ anger and autistic traits), facial dysmorphisms (including prominent eyelashes and eyebrows, depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip and wide mouth), seizures, brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense mediated decay. Less than 30 patients have been reported to date worldwide and ours are the first Portuguese reported patients. Here, we present two additional patients, from the same family, with predicted pathogenic heterozygous variants in ZMYND11 gene. We aim to further expand the genotypic and phenotypic spectrum of ZMYND11 gene-related syndromic intellectual disability. Patient 1 is a 4-year-old male referred to our clinic by global psychomotor developmental delay and dysmorphic facial features. The proband is the second twin of a dichorionic diamniotic twin pregnancy, from a non-consanguineous couple, born after 36 weeks and 4 days gestation, by cesarean delivery, with adequate somatometry. At clinical observation, he had distinctive facies (epicanthus, prominent eyelashes and eyebrows, bulbous nasal tip, thin vermilion of the upper lip and wide mouth), speech delay, relative macrocephaly, short stature and tooth enamel hypoplasia. He had a personal history of gross motor delay, behavioral abnormalities (including social difficulties and aggressive behavior) and seizures. FMR1 gene PCR and chromosomal microarray analysis were performed and revealed no alterations. Skeletal radiography with no relevant alterations either. Next Generation Sequencing (NGS) panel was posteriorly performed and identified the heterozygous c.886_889del (p.(Ala296Lysfs*41)) pathogenic variant in exon 10 of ZMYND11 gene. This frameshift variant had not been previously described in literature but causes introduction of a premature stop codon, which is why may be expected to have a deleterious effect. Parent's genetic study confirmed the ZMYND11 variant was inherited from the mother (Patient 2). An additional variant of unknown significance was found in CACNA1A gene, which was also inherited from the mother. Patient 2 is 42-year-old female with a personal history of speech delay and learning difficulties. At clinical observation, she had mild intellectual disability and facial dysmorphisms, namely prominent eyelashes and eyebrows, bulbous nasal tip, thin vermilion of the upper lip and wide mouth. No more family members were affected. Pathogenic variants in ZMYND11 gene cause Mental Retardation autosomal dominant 30 (OMIM 616083).

Melanins play a fundamental role in the biology and ecology of several fungal species. Unfortunately, this group of amorphous macromolecules also severely (and most times irreversibly) stains cultural heritage objects. Despite efforts made throughout the years, knowledge of the chemical composition and structure of melanins is still insufficient, which hampers the task of safely cleaning these colourants from cultural heritage materials in a targeted way without causing further deterioration. This work aimed therefore to contribute towards enlightening the characteristics of fungal melanins from three fungi that are common paper colonizers: Aspergillus niger, Chaetomium globosum and Cladosporium cladosporioides. The extracted melanins were characterized by FTIR, Raman, UV-vis, Solid-State NMR and MALDI-TOF MS spectroscopies and the effect of inhibitors of DHN-melanin and DOPA-melanin pathways on colony pigmentation and growth was evaluated. Although all the extracted colourants show a predominantly aromatic structure with carbonyl and phenolic groups, some differences between the melanins can be highlighted. Melanins obtained from Ch. globosum and Cl. cladosporioides exhibited similar structures and composition and both presented DHN-melanin characteristics, while A. niger’s melanins revealed a more complex and ordered structure, with a higher prevalence of highly conjugated carbonyls than the others, besides the additional presence of a yellow/green component. These conclusions cannot be overlooked while selecting targeted cleaning methodologies for melanin stains on cultural heritage materials.

2020 was an untypically difficult year. The global COVID-19 pandemic has forced the closure of various sectors of activity, including universities, laboratories and businesses, impelling researchers and technicians to temporarily halt their research or, at their best, to develop it in a limited way. Less recognised but equally significant was the direct impact of COVID-19 on the preservation and protection of cultural heritage.\n \nOnline: 2021-2-10Publication: 2021-2-10

Over the last two years, we have been announcing the numerous changes that have been implemented in the journal [1-3]. The adoption of a new website (https://conservarpatrimonio.pt) was the most recent change. For instance, the last issue number 36, was the first one to be published on this new website. Now, we are pleased to announce another set of modifications that take advantage of the functionalities of the editorial management software OJS/PKP, and with the journal’s historical alignment towards open science. These changes do also occur as part of the adaptation of the journal to the evolutionary context of international scientific publications and they will help, we believe, to consolidate Conservar Património’s position as a reference journal in the national and international panorama.

BACKGROUND:The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. METHODS:In this report, the biochemical and genetic findings performed in 223 patients diagnosed through the Portuguese Neonatal Screening Program (PNSP) are presented. RESULTS:Overall, the results show that a high overlap exists between different types of variants and phenylalanine levels. Molecular analyses reveal a wide mutational spectrum in our population with a total of 56 previously reported variants, most of them found in compound heterozygosity (74% of the patients). Intragenic polymorphic markers were used to assess the haplotypic structure of mutated chromosomes for the most frequent variants found in homozygosity in our population (p.Ile65Thr, p.Arg158Gln, p.Leu249Phe, p.Arg261Gln, p.Val388Met, and c.1066-11G>A). CONCLUSION:Our data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype-phenotype correlations.

Hyperammonemia may be a life threatening disorder, secondary to several different etiologies namely urea cycle defects and organic acidurias. Mitochondrial carbonic anhydrase VA (CA-VA) deficiency, a recently recognized metabolic disorder, results from abnormalities in the CA5A gene. This gene plays an important role in ureagenesis and gluconeogenesis resulting in secondary deficiency of several carboxylases and presenting as neonatal hyperammonemic encephalopathy. We describe an almost 5-year-old boy who presented neonatal encephalopathy secondary to hyperammonemia in whom CA-VA deficiency was identified and emphasize the fact that he has normal growth and development despite no diet or medication for several years. We report this case as less than twenty patients have been described in the literature.

Biodeterioration by fungi is a serious problem and is responsible for severe chemical and physical damage on virtually all supports used to create cultural heritage. The defacing and eventual loss of reading and aesthetic value urges those responsible to prevent fungal contamination altogether, diminish its impact or recover the damaged artefacts. The present Chapter focuses on the action fungi can have on some of our most precious cultural heritage collections (paper-based documents, photography and film, stone and ceramic glazes) and offers an insight on the current prevention, treatment and assessment strategies used in mycological studies in cultural heritage.

Objective To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, apolipoprotein CIII isoforms and glycan structures were analyzed. Additional studies included measurement of phosphomannomutase (PMM) activity and analysis of lipid-linked oligosaccharides in fibroblasts. Sanger sequencing and massive parallel sequencing were used to identify causal variants or the affected gene, respectively. Results Sixty-three individuals were diagnosed covering 14 distinct CDGs; 43 patients diagnosed postnatally revealed a type 1, 14 a type 2, and 2 a normal pattern on serum transferrin isoelectrofocusing. The latter patients were identified by whole exome sequencing. Nine of them presented also a hypoglycosylation pattern on apolipoprotein CIII isoelectrofocusing, pointing to an associated O-glycosylation defect. Most of the patients (62%) are PMM2-CDG and the remaining carry pathogenic variants in ALG1, ATP6AP1, ATP6AP2, ATP6V0A2, CCDC115, COG1, COG4, DPAGT1, MAN1B1, SLC35A2, SRD5A3, RFT1, or PGM1. Conclusions Portuguese patients with CDGs are presented in this report, some of them showing unique clinical phenotypes. Among the 14 genes mutated in Portuguese individuals, 8 are shared with a previously reported Spanish cohort. However, regarding the mutational spectrum of PMM2-CDG, the most frequent CDG, a striking similarity between the 2 populations was found, as only 1 mutated allele found in the Portuguese group has not been reported in Spain.