Correction to: Genome Analysis and Genomic Comparison of the Novel Species Arthrobacter ipis Reveal Its Potential Protective Role in Its Bark Beetle Host.

A Correction to this paper has been published: https://doi.org/10.1007/s00248-021-01811-x.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM_001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.

Serratia myotis sp. nov. and Serratia vespertilionis sp. nov., isolated from bats hibernating in caves.

During the study of bacteria associated with bats affected by white-nose syndrome hibernating in caves in the Czech Republic, we isolated two facultatively anaerobic, Gram-stain-negative bacteria, designated strains 12(T) and 52(T). Strains 12(T) and 52(T) were motile, rod-like bacteria (0.5-0.6 µm in diameter; 1-1.3 µm long), with optimal growth at 20-35 °C and pH 6-8. On the basis of the almost complete sequence of their 16S rRNA genes they should be classified within the genus Serratia; the closest relatives to strains 12(T) and 52(T) were Serratia quinivorans DSM 4597(T) (99.5 % similarity in 16S rRNA gene sequences) and Serratia ficaria DSM 4569(T) (99.5% similarity in 16S rRNA gene sequences), respectively. DNA-DNA relatedness between strain 12(T) and S. quinivorans DSM 4597(T) was only 37.1% and between strain 52(T) and S. ficaria DSM 4569(T) was only 56.2%. Both values are far below the 70% threshold value for species delineation. In view of these data, we propose the inclusion of the two isolates in the genus Serratia as representatives of Serratia myotis sp. nov. (type strain 12(T) =CECT 8594(T) =DSM 28726(T)) and Serratia vespertilionis sp. nov. (type strain 52(T) =CECT 8595(T) =DSM 28727(T)).

Does obesity really affect renal transplantation outcomes?

INTRODUCTION: Kidney transplantation is the treatment of choice for patients with stage 5 chronic kidney disease (CKD). About 60% of CKD patients are overweight or obese at the time of kidney transplantation, and post-transplant obesity occurs in 50% of patients, with a weight gain of 10% in the first year and high risk of cardiovascular mortality. Obesity is associated with an increased risk of delayed graft function (DGF), acute rejection, surgical complications, graft loss and mortality. The aim of this study is to assess the clinical evolution of obese and overweight patients that have received a kidney transplant, based on short- and long-term complications associated with a higher BMI. MATERIAL AND METHODS: A descriptive, observational, cross-sectional study was conducted with 104 kidney or pancreas-kidney transplant patients between March 2017 and December 2020, with a follow-up until April 2021. For comparative analysis, patients were grouped according to BMI. RESULTS: Mean age was of 56.65 years, 60.6% male and 39.4 % female. Overweight patients experienced prolonged surgeries, more surgical wound dehiscence, delayed graft function, hernias, proteinuria and more indications for renal biopsies. Additionally, obese patients displayed more DGF, indications for renal biopsies, proteinuria, development of diabetes mellitus, atrial fibrillation and needed prolonged hospital stays. CONCLUSIONS: Despite a high prevalence of comorbidity in the overweight and/or obese population, we found no reduction in patient and/or graft survival. However, longer follow-up is needed.

The molecular epidemiology of SARS-CoV-2 in the Pityusic Islands shows multiple introductions and fast replacements of variants in a touristic worldwide hot spot.

The public health emergency caused by the Covid-19 outbreak in March 2020 encouraged worldwide initiatives to monitor the genetic diversity and features of the SARS-CoV-2 circulating variants, mainly based on the genomic surveillance. However, due to the impossibility to carry out extensive sequencing in resource-limited hospitals, other PCR-based strategies could be applied to efficiently monitor the circulating variants without the need to greatly expand the sequencing capacity. In our case, overpassing the technical limitations inherent to a second level hospital, we were able to characterize the weekly distribution of SARS-CoV-2 by the RT-qPCR amplification patterns visualization, single nucleotide polymorphism genotyping, and sequencing of randomly selected samples. All these molecular approaches allowed us to trace the epidemiology of SARS-CoV-2 viruses circulating in Ibiza and Formentera (Balearic Islands, Spain) during the third to the sixth pandemic waves (January 2021-July 2022), in which three major lineages that were considered as VOCs (Alpha, Delta, and Omicron), and many other non-VOC variants were detected and tracked.

Management of mixed acute rejection driven by a de novo donor-specific complement-binding anti-DQB1*03:01 antibody and intraepithelial CD8 T-cells in a kidney recipient: a case report.

Mixed acute rejection is a clinicopathological entity that is difficult to accurately diagnose, and so may be under-reported. Allografts are lost more often than in either humoral or cellular rejection. The diagnosis requires both histological and immunological studies on renal biopsy and blood specimens from the transplant recipient to provide the required rescue therapy to abolish the allogeneic response against the graft. We present a clinical case report of an active mixed acute rejection driven by a de novo donor-specific complement-binding anti-DQB1*03:01 antibody and intraepithelial CD8 T-cells in a patient with a kidney transplant. The patient was diagnosed, treated, and followed up as per the local institution's procedure with a full recovery of graft function. Our case emphasises the challenge of a mixed acute rejection and supports the need to improve the post-transplant outcome of recipients and their grafts.

[Squamous cell carcinoma arising on an epidermal inclusion cyst: a case presentation and review of the literature]. / Carcinoma epidermoide desarrollado sobre quiste de inclusión epidérmica cutáneo. Presentación de un nuevo caso y revisión de la literatura.

Epidermal inclusion cysts are very common lesions that very rarely undergo malignant transformation-in the English-language literature we have only found 18 adequately documented cases. We present the case of a man with a 2-month history of a retroauricular skin lesion in which histological study revealed squamous cell carcinoma arising on an epidermal inclusion cyst. Cysts that grow rapidly, reach a large size, ulcerate, develop a fistula, or that do not respond to medical treatment, and those that recur should be excised completely and histological study performed of the whole lesion.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must be performed to confirm the final diagnosis. We have revised the NBS results and the results of the confirmatory tests (plasma acylcarnitine profiles, molecular findings, and lymphocytes VLCAD activity) for 36 cases detected in three Spanish NBS centers during 4 years, correlating these with the clinical outcome and treatment. Our aim was to distinguish unambiguously true cases from disease carriers in order to obtain useful diagnostic information for clinicians that can be applied in the follow-up of neonates identified by NBS.Increases in C14:1 and of the different ratios, the presence of two pathogenic mutations, and deficient enzyme activity in lymphocytes (<12% of the intra-assay control) identified 12 true-positive cases. These cases were given nutritional therapy and all of them are asymptomatic, except one. Seventeen individuals were considered disease carriers based on the mild increase in plasma C14:1, in conjunction with the presence of only one mutation and/or intermediate residual activity (18-57%). In addition, seven cases were classified as false positives, with normal biochemical parameters and no mutations in the exonic region of ACADVL. All these carriers and the false positive cases remained asymptomatic. The combined evaluation of the acylcarnitine profiles, genetic results, and residual enzyme activities have proven useful to definitively classify individuals with suspected VLCAD deficiency into true-positive cases and carriers, and to decide which cases need treatment.

[Soft tissue metastases by micropapillary bladder carcinoma. Metastatic disease]. / Metástasis en partes blandas por un carcinoma micropapilar de vejiga.

Micropapillary transitional cell carcinoma is a rare (incidence of 0.7%) and highly aggressive variant of bladder carcinoma. Morphologically, it is characterized by small tight clusters of neoplastic cell floating in clear spaces resembling lymphatic channels. Its usual presentation is like a high grade and stage carcinoma and most often is associated with a variable component of conventional carcinoma or other variants. The usual sites of bladder cancer metastases are the lymph nodes, lungs, bone and liver. Soft tissues metastases from transitional cell carcinoma of the bladder occur infrequently. We report the cases of a 77-year-old man presenting with an abdominal soft tissue mass a six years after local excision of a micropapillary bladder carcinoma.

[Expresion of E-cadherin and catenins in urothelial carcinomas]. / Expresión de cadherina E y cateninas en los carcinomas uroteliales.

OBJECTIVE: We examined the presence of E-cadherin and alpha, beta and gamma catenins detected by immunohistochemistry and correlated with the classic variables: grade, stage and recurrence. MATERIAL AND METHOD: The authors evaluated 37 transitional cell carcinomas. Biopsy specimens included no recurrent transitional cell carcinoma (n=19) and recurrent transitional cell carcinoma (n=18). Association of E-cadherin and alpha, beta and gamma catenins immunoreactivity with tumor grade, clinical stage and tumor recurrence was examined. RESULTS: E-cadherin and gamma catenin expression were related to the clinical stage of the disease, alpha and beta catenins were not correlated with grade, stage and recurrence of disease. CONCLUSIONS: Decreased E cadherin and gamma catenin expression were associated with advanced stage of the disease.

[Expression of cytokeratin 5 and calretinin in clear-cell renal cell carcinoma]. / Expresión de citoqueratina 5 y calretinina en el carcinoma renal de células claras.

PURPOSE: Cytokeratin 5 (CK5) and calretinin have been useful in different studies as immunohistochemical markers suggestive of mesothelioma, and their expression is analyzed for the histological differential diagnosis with adenocarcinomas, specially when confronting with metastatic tumors of unknown origin. We have analyzed the expression of CK5 and calretinin in clear cell renal cell carcinoma. METHODS: A series of 63 clear cell renal cell carcinomas was studied. 46 of these cases were embedded in two tissue arrays, and a second group, of 17 cases, was constituted by conventional paraffin blocks from high-grade tumors (grade 4 of Fuhrman). Immunohistochemical staining was performed with monoclonal antibodies against CK5 and calretinin, following the labeled sptreptavidin-biotin technique. RESULTS: No positivity for calretinin was observed in any case, while CK5 was focally expressed, in an isolated group of cells, in 1 of the 63 cases (1,59%) which corresponded to a high-grade carcinoma (grade 4 of Fuhrman). CONCLUSIONS: Expression of calretinin was not observed in clear cell renal cell carcinoma and positivity for CK5 occurred only in one case, in a very small proportion of tumor cells. Therefore, in practice, although the positivity for these markers cannot completely exclude renal cell carcinoma, this result is very rare in this tumor and other diagnostic posibilities should be considered.

[Lymphoepithelial cyst of the thyroid gland: a case report and review of the literature]. / Quiste linfoepitelial intratiroideo: caso clínico y revisión de la literatura.

We report a case of lymphoepithelial cyst of the thyroid gland in a 31 year-old-man with chronic lymphocytic thyroiditis and history of multinodular goiter. The lesion was resected and the histopathologic examination showed that the cystic mass was lined by squamous and focally columnar epithelium, an it was surrounded by follicular lymphoid tissue. To our knowledge only twenty cases of this lesion have been reported in the medical literature. An association with chronic thyroiditis has been noted in 10 cases.

Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.

BACKGROUND & AIMS: Mitochondrial diseases (MD) are the most frequent inborn errors of metabolism. In affected tissues, MD can alter cellular oxygen consumption rate leading to potential decreases in whole-body resting energy expenditure (REE), but data on pediatric children are absent. We determined, using indirect calorimetry (IC), whole-body oxygen consumption (VO2), carbon dioxide production (VCO2), respiratory quotient (RQ) and REE in pediatric patients with MD and healthy controls. Another goal was to assess the accuracy of available predictive equations for REE estimation in this patient population. METHODS: IC data were obtained under fasting and resting conditions in 20 MD patients and 27 age and gender-matched healthy peers. We determined the agreement between REE measured with IC and REE estimated with Schofield weight and FAO/WHO/UNU equations. RESULTS: Mean values of VO2, VCO2 (mL·min-1·kg-1) or RQ did not differ significantly between patients and controls (P = 0.085, P = 0.055 and P = 0.626 respectively). Accordingly, no significant differences (P = 0.086) were found for REE (kcal·day-1 kg-1) either. On the other hand, although we found no significant differences between IC-measured REE and Schofield or FAO/WHO/UNU-estimated REE, Bland-Altman analysis revealed wide limits of agreement and there were some important individual differences between IC and equation-derived REE. CONCLUSIONS: VO2, VCO2, RQ and REE are not significantly altered in pediatric patients with MD compared with healthy controls. The energy demands of pediatric patients with MD should be determined based on IC data in order to provide the best possible personalized nutritional management for these children.

[Primary non-Hodgkin large B-cell lymphoma of bladder. Report of a case]. / Linfoma no hodgkin B de célula grande primario de vejiga. Presentación de un caso.

INTRODUCTION: primary genitourinary lymphomas are uncommon. Among them, bladder lymphomas are extremely unusual tumors, with clinico-radiological features similar to urothelial carcinomas of bladder. Histopathological, immunohistochemical and molecular studies are compulsory for the diagnosis. We report a case of this tumor. CLINICAL CASE: An 80-year-old woman was admitted to our hospital with hematuria. Abdominal ultrasound and cystoscopy revealed an infiltrating bladder tumor involving the right lateral wall. After transuretral biopsy, a diagnosis of non-Hodgkin large B-cell lymphoma was made. Neither clinical symptoms nor radiological findings showed disseminated disease, indicating that the tumor was localized in the bladder. After chemotherapy, the patient is disease-free after 9 months follow-up. COMMENT: if a bladder tumor with uncommon histopathological features is found, lymphoma should be excluded, because chemotherapy avoids cystectomy.

[Expression of the cerbB-2 (HER-2/neu) oncoprotein in prostatic adenocarcinoma]. / Estudio de la expresión de cerbB-2 en el adenocarcinoma de próstata.

OBJECTIVES: Our aim is to determine the expression of the cerbB-2 oncoprotein in prostate cancers using an immunohistochemistry staining and to compare these results with several clinical and histological prognostic factors. METHODS: An immunohistochemical staining using the cerbB-2 monoclonal antibody (Dako) was performed in 32 radical prostatectomy specimens diagnosed of adenocarcinoma. The intensity of cerbB-2 expression was evaluated with a scale that variated from 0 (no staining) to 3+ (strong complete membrane staining) according to published guidelines. Association of cerbB-2 index immunoreactivity with clinical and histological prognostic factors was examined. RESULTS: Definite positive membranous staining was detected in 14 of 32 neoplastic cases (44%). Such overexpression was correlated with higher Gleason grade (p=0.04) and higher stage of disease (p=0.038). CONCLUSIONS: 1) This study shows that 44% of all prostate cancer express the cerbB-2 oncoprotein with immunohistochemical technique. 2) These findings suggest that is necessary to standardize the immunohistochemical staining procedure with cerbB-2 in prostate adenocarcinoma. 3) The level of cerbB-2 expression was correlated with Gleason grade and clinical stage.

[Organic pollutant residues of different origins in Navarra]. / Residuos de contaminantes orgánicos de diferentes orígenes en Navarra.

An analysis was made of residues of polychlorobyphenyls and trihalomethanes through GC-ECD and of herbicides through HPLC-PAD in samples proceeding from Navarra. Polychlorobyphenyls were detected (0.30 +/- 0.05 and 0.11 +/- 0.05 microg/l) in two of the 106 water samples analysed. Sixty-six food samples were analysed, and polychlorobyphenyls were only found in 8 samples of trout (dissimilar to dioxins: 21-194 microg/kg of fat; similar to dioxins: 41-139 microg/kg of fat). Of 107 fat samples analysed, polychlorobyphenyls dissimilar to dioxins were detected in two (27 +/- 5 and 30 +/- 5 microg/kg). Out of a total of 94 feed samples analysed, polychlorobyphenyls were detected in all the samples (12) of feed for aquaculture and their raw materials; the concentration of polychlorobyphenyls dissimilar to dioxins varied by an interval of 8-247 microg/kg of fat; polychlorobyphenyls similar to dioxins, between 18 and 107 microg/kg of fat. Contamination by polychlorobyphenyls of the fish from aquaculture could be due to the feed used in these exploitations. The average of trihalomethanes in the waters of the southern zone of Navarra (44 +/- 4 microg/l) was higher than those of the middle zone (16 +/- 1 microg/l) and the mountain zone (12 +/- 1 microg/l). The concentration of 99% of the samples fulfilled the norms on halomethanes. A relation was observed between muddiness and the concentration of trihalomethanes. Herbicide (cianazine) was only detected in one of the 135 samples of water analysed, with a concentration of (0.4 +/- 0.2 microg/l) which exceeded the established limit. The use of confirmation techniques (GC-MS, HPLC-MS/MS) would make it possible to validate these results and to expand the number of compounds analysed.

Influence of a Saccharomyces cerevisiae selected strain in the volatile composition of rosé wines. Evolution during fermentation.

There has been considerable controversy about the use of selected pure strains in wine fermentation. For that reason it is important to determine the influence of this vinification technique in the composition of wine because it arises from the type of yeast and the subsequent evolution during fermentation. This study researches the volatile composition of rosé wines from the Garnacha must, inoculated with one selected NA33 strain of Saccharomyces cerevisiae. The inoculated yeast did not predominate in all of the samples. These samples showed a behavior intermediate between those of the control and samples in which NA33 did predominate. The greatest concentration of higher alcohols was in the control wine, and its evolution was similar in all fermentations. The esters formed at the end of the fermentation and their concentrations were higher in the control than in the inoculated samples. In the control, acids were produced above all, in the first half of fermentation, and decreased from then onward. In the sample in which the yeast predominated, the synthesis occurred later and to a lesser extent than in the control.

Immunohistochemical detection of fibronectin and tenascin in incised human skin injuries.

Immunohistochemical detection of molecules involved in inflammatory reaction can be useful for the diagnosis of vitality in skin wounds. We studied the expression of fibronectin (FN) and tenascin (TN) in 58 human skin wounds (48 vital and 10 postmortem). The age of vital injuries ranged from 3 min to 8 h and postmortem specimens were collected after a postinfliction interval of 15-180 min. One hundred thirty-seven formalin-fixed paraffin-embedded sections (mean: 2.3 sections per case) were stained with each of two monoclonal antibodies against FN and TN using the streptABC technique. A reticular staining for FN in wound edge and dermis was observed in 50% of vital specimens versus 0% in postmortem cases. Immunoreactivity was reduced in 10 autolysed cases. FN positivity exclusively at the injury margin was observed in 39.4% of vital wounds and 10% of postmortem cases. TN was negative in all specimens. Vital and postmortem hemorrhage areas showed positivity for FN and TN. Due to its low sensitivity, immunohistochemical analysis of FN is useful for determining vitality only in a minority of cases. Different factors in everyday practice, including autolysis and technical problems often produce false negative reactions with the result that FN cannot be regarded as a reliable parameter of vitality. Positive reactions (network staining) are more valuable than negativity but are not pathognomonic. Both vital and postmortem hemorrhages show an enhanced positivity for FN and TN, thus impeding the diagnosis.