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.

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.

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.

Análisis de la carga de enfermedad de la gripe en las últimas cinco temporadas (2013-2018) / Analysis of the disease burden of influenza in the last five seasons (2013-2018)

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[De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia]. / Mutacion puntual de novo en el gen KCND3 en un paciente con ataxia cronica de inicio precoz.

TITLE: Mutacion puntual de novo en el gen KCND3 en un paciente con ataxia cronica de inicio precoz.

Paciente trasplantado renal con disminución del nivel de conciencia de etiología poco frecuente: a propósito de un caso / Kidney transplant patient with a decreased level of consciousness of unusual aetiology: A case report

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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.

Patología de las uñas en la infancia. Cómo interpretar los cambios en la superficie ungueal / Nail alterations in children. How to interpret the changes in the ungueal surface

La patología ungueal en la infancia es muy amplia y su conocimiento es imprescindible para el diagnóstico de variados procesos que muestran en las uñas su seña de identidad propia. En muchos casos la afectación ungueal es la pionera de la enfermedad, permitiendo un diagnóstico precoz. A nivel de la atención pediátrica extrahospitalaria, el conocimiento de la semiología ungueal permite orientaciones diagnósticas en las que no es preciso el uso de complejas y costosas técnicas complementarias. Revisaremos los cambios en la superficie de la lámina ungueal (cambios en la lisura, curvatura, grosor...) y su implicación clínica, mostrando especial interés en recalcar los procesos dermatológicos o sistémicos que acompañan a cada síntoma ungueal

Ungueal pathology in children is very extensive and its knowledge is essential to diagnose varied processes that leave an identifying mark on the nails. In many cases, the affected nail is the pioneer of the disease, allowing for an early diagnosis. In regards to outpatient pediatric care, knowledge of nail semiology allows for diagnostic orientations in which the use of complex and costly complementary techniques is not necessary. We review the changes on the nail plate surface (changes in smoothness, curvature, thickness, etc.) and its clinical implication, showing special interest in emphasizing the dermatological or systemic processes that accompany each ungueal symptom

Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Hospital Universitario 12 de Octubre / Mitochondrial Disease and Hereditaru Metabolic Disease Unit. Pediatric Department. University Hospital 12 de Octubre

La Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias (EM-EMH) presta atención a pacientes afectos de errores congénitos del metabolismo (ECM). Asimismo, realiza consejo genético, diagnóstico prenatal y el diagnóstico en sus familiares. Nuestro Hospital dispone de todas las especialidades médicas, pediátricas y de adultos, así como infraestructuras necesarias para proporcionar una atención de calidad. Por el trabajo realizado hemos recibido algunos premios y reconocimientos, otorgados por asociaciones de pacientes (Federación Española de Enfermedades Raras -FEDER-, Asociación Española de Enfermedades Raras -ACME-IM-). Hemos sido denominados Centro Experto de Referencia para centro del diagnóstico y seguimiento clínico de los casos sospechosos de enfermedades metabólicas congénitas detectados en el programa de cribado neonatal universal que se realiza en la Comunidad de Madrid y Centro de Referencia para enfermedades metabólicas congénitas para niños y adultos (CSUR) por el Ministerio de Sanidad, Servicios Sociales e. Igualdad. Recientemente hemos sido nominados dentro de la Red Europea de Referencia de enfermedades metabólicas hereditarias (metabERN) (AU)

The Pediatric Mitochondrial and Hereditary Mctabolic Diseases Unit (MD-IMD) provides care for patients affected by Inborn Errors of Metabolism (IMD). It also provides genetic advice, prenatal diagnosis and diagnosis in their family members. Our hospital has all the medical, pediatric and adult specialities, as well as the necessary infrastructure to provide quality care. We have received some awards and acknowledgments for our work, granted by the associations of patients (Spanish Federation of Rare Diseases-FEDER-, Spanish Association of Rare Diseases -ACMEIM-). We have been named as an Expert Center of Reference for HMD detected in extended neonatal screening of the community of Madrid and a Reference Center for lnborn Err0rs of Metabolism for children and adults (CSUR -Centers, Services and Units of Reference) by the National Health Service. Actually we are working in the European Reference Network for Rare Hereditary Metabolic Disorders (metabERN) (AU)

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.

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.

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)).

Respiratory distress syndrome caused by influenza H1N1 in a patient with a simultaneous pancreas-kidney transplantation.

Adult respiratory distress syndrome is a severe respiratory failure due to noncardiogenic pulmonary edema with high mortality rates (50-70%). The most common etiology of respiratory distress is sepsis, but it may also be caused by several of the immunosuppressants prescribed in transplantation. In the last year, influenza H1N1 virus infection has become more relevant. It has shown a greater incidence among immunosuppressed patients as well as those with chronic kidney disease or diabetes mellitus. We present the case of a patient with simultaneous pancreas-kidney transplantation who presented respiratory distress after the second dose of thymoglobulin. Initially, we interpreted that the thymoglobulin was the cause, so it was replaced with basiliximab. Empirical treatment was started with 3 doses of 6-methylprednisolone (250 mg), with a favorable response. After 7 days, we received the results of the reverse-transcriptase polymerase chain reaction of a nasal smear and blood culture, which were positive for H1N1 virus. In our knowledge, this is the first reported case of a patient with simultaneous pancreas-kidney transplantation and respiratory distress secondary to H1N1 virus infection who showed a favorable response to corticosteroid therapy.

Tuberous sclerosis associated with polycystic kidney disease: effects of rapamycin after renal transplantation.

Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. This association leads to an increased frequency of end-stage renal disease. We present a patient suffering from both syndromes, who received a renal graft and anticalcineurinic drugs as immunosuppressive agents. Progressive titration of the drug was necessary in order to attain the effective doses due to the enzymatic induction caused by concomitant treatment with antiepileptic drugs. These high doses resulted in nephrotoxicity. Immunosuppressor treatment was switched to rapamycin, whereby an improvement in renal function and other signs of tuberous sclerosis and polycystic kidney disease was observed. This case report highlights both the efficacy and safety of rapamycin as an immunosuppressor treatment and its capacity for controlling other symptoms of these genetic-related disorders.

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.

We present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal rhabdomyosarcoma. This association has not been described before, nor the utilization of chemotherapy in patients with propionic acidaemia.The patient is a girl with neonatal onset of propionic acidaemia, homozygous for the c.2041-2924del3889 mutation in PCCA gene. At 23 months of age she was diagnosed with genitourinary embryonal rhabdomyosarcoma. Conservative surgery, brachytherapy and nine cycles of chemotherapy with iphosphamide, vincristine and actinomycin were recommended by oncologists. Due to the possibility that the child could present decompensations, we elaborated three different courses of treatment: when the patient was stable (treatment 1), intermittent bolus feeding through gastrostomy, containing 70 kcal/kg/day and 1.4 g/kg/day of total protein (0.6 g/kg/day of natural protein and 0.8 g/kg/day of amino acid-based formula) was prescribed; on the chemotherapy-days (treatment 2), diet consisted on continuous feeding, with the same energy and amino acid-based formula but half of natural protein intake; in case of decompensation (treatment 3), we increased by 10% the energy intake, and completely stopped natural protein in the diet but maintaining the amino acid-based formula. On chemotherapy- days carnitine was increased from 100 mg/kg/day to 150 mg/kg/day, and N-carbamylglutamate was added.Through the 7 months with chemotherapy the patient did not suffer decompensations, while she maintained good nutritional status.Enteral continuous feeding by gastrostomy, amino acid-based formula, and preventive use of N-carbamylglutamate during chemotherapy-days are the principal measures we propose in these situations.