Bacteriophages to control Vibrio alginolyticus in live feeds prior to their administration in larviculture.

AIMS: This study aimed to evaluate the efficiency of two phages [VB_VaC_TDDLMA (phage TDD) and VB_VaC_SRILMA (phage SRI)] alone and in a cocktail to control Vibrio alginolyticus in brine shrimp before their administration in larviculture. METHODS AND RESULTS: Phages were isolated from seawater samples and characterized by host spectrum, growth parameters, adsorption rate, genomic analysis, and inactivation efficiency. Both phages belong to the Caudoviricetes class and lack known virulence or antibiotic-resistance genes. They exhibit specificity, infecting only their host, V. alginolyticus CECT 521. Preliminary experiments in a culture medium showed that phage TDD (reduction of 5.8 log CFU ml-1 after 10 h) outperformed phage SRI (reduction of 4.6 log CFU ml-1 after 6 h) and the cocktail TDD/SRI (reduction of 5.2 log CFU ml-1 after 8 h). In artificial marine water experiments with Artemia franciscana, both single phage suspensions and the phage cocktail, effectively inactivated V. alginolyticus in culture water (reduction of 4.3, 2.1, and 1.9 log CFU ml-1 for phages TDD, SRI, and the phage cocktail, respectively, after 12 h) and in A. franciscana (reduction of 51.6%, 87.3%, and 85.3% for phages TDD, SRI, and the phage cocktail, respectively, after 24 h). The two phages and the phage cocktail did not affect A. franciscana natural microbiota or other Vibrio species in the brine shrimp. CONCLUSIONS: The results suggest that phages can safely and effectively control V. alginolyticus in A. franciscana prior to its administration in larviculture.

Combined effect of SAR-endolysin LysKpV475 with polymyxin B and Salmonella bacteriophage phSE-5.

Endolysins are bacteriophage (or phage)-encoded enzymes that catalyse the peptidoglycan breakdown in the bacterial cell wall. The exogenous action of recombinant phage endolysins against Gram-positive organisms has been extensively studied. However, the outer membrane acts as a physical barrier when considering the use of recombinant endolysins to combat Gram-negative bacteria. This study aimed to evaluate the antimicrobial activity of the SAR-endolysin LysKpV475 against Gram-negative bacteria as single or combined therapies, using an outer membrane permeabilizer (polymyxin B) and a phage, free or immobilized in a pullulan matrix. In the first step, the endolysin LysKpV475 in solution, alone and combined with polymyxin B, was tested in vitro and in vivo against ten Gram-negative bacteria, including highly virulent strains and multidrug-resistant isolates. In the second step, the lyophilized LysKpV475 endolysin was combined with the phage phSE-5 and investigated, free or immobilized in a pullulan matrix, against Salmonella enterica subsp. enterica serovar Typhimurium ATCC 13311. The bacteriostatic action of purified LysKpV475 varied between 8.125 µg ml-1 against Pseudomonas aeruginosa ATCC 27853, 16.25 µg ml-1 against S. enterica Typhimurium ATCC 13311, and 32.50 µg ml-1 against Klebsiella pneumoniae ATCC BAA-2146 and Enterobacter cloacae P2224. LysKpV475 showed bactericidal activity only for P. aeruginosa ATCC 27853 (32.50 µg ml-1) and P. aeruginosa P2307 (65.00 µg ml-1) at the tested concentrations. The effect of the LysKpV475 combined with polymyxin B increased against K. pneumoniae ATCC BAA-2146 [fractional inhibitory concentration index (FICI) 0.34; a value lower than 1.0 indicates an additive/combined effect] and S. enterica Typhimurium ATCC 13311 (FICI 0.93). A synergistic effect against S. enterica Typhimurium was also observed when the lyophilized LysKpV475 at ⅔ MIC was combined with the phage phSE-5 (m.o.i. of 100). The lyophilized LysKpV475 immobilized in a pullulan matrix maintained a significant Salmonella reduction of 2 logs after 6 h of treatment. These results demonstrate the potential of SAR-endolysins, alone or in combination with other treatments, in the free form or immobilized in solid matrices, which paves the way for their application in different areas, such as in biocontrol at the food processing stage, biosanitation of food contact surfaces and biopreservation of processed food in active food packing.

Cannabinoid products for pain management: recommendations from the São Paulo State Society of Anesthesiology.

There is growing interest in using cannabinoids across various clinical scenarios, including pain medicine, leading to the disregard of regulatory protocols in some countries. Legislation has been implemented in Brazil, specifically in the state of São Paulo, permitting the distribution of cannabinoid products by health authorities for clinical purposes, free of charge for patients, upon professional prescription. Thus, it is imperative to assess the existing evidence regarding the efficacy and safety of these products in pain management. In light of this, the São Paulo State Society of Anesthesiology (SAESP) established a task force to conduct a narrative review on the topic using the Delphi method, requiring a minimum agreement of 60% among panelists. The study concluded that cannabinoid products could potentially serve as adjuncts in pain management but stressed the importance of judicious prescription. Nevertheless, this review advises against their use for acute pain and cancer-related pain. In other clinical scenarios, established treatments should take precedence, particularly when clinical protocols are available, such as in neuropathic pain. Only patients exhibiting poor therapeutic responses to established protocols or demonstrating intolerance to recommended management may be considered as potential candidates for cannabinoids, which should be prescribed by physicians experienced in handling these substances. Special attention should be given to individual patient characteristics and the likelihood of drug interactions.

Antioxidant Activity of Foods and Natural Products.

Today, there is growing recognition of the importance of antioxidants in promoting human health and well-being [...].

Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center.

OBJECTIVES: Growth failure is one of the major complications of pediatric chronic kidney disease. Even after a kidney transplant (KT), up to 50 % of patients fail to achieve the expected final height. This study aimed to assess longitudinal growth after KT and identify factors influencing it. METHODS: A retrospective observational study was performed. We reviewed the clinical records of all patients who underwent KT for 25 years in a single center (n=149) and performed telephone interviews. Height-for-age and body mass index (BMI)-for-age were examined at KT, 3 months, 6 months, 1 year, and 5 years post-transplant and at the transition to adult care. We evaluated target height, disease duration before KT, need and type of dialysis, recombinant human growth hormone pretransplant use, nutritional support, glomerular filtration rate (GFR), and cumulative corticosteroid dose. RESULTS: At transplant, the average height z-score was -1.38, and height z-scores showed catch-up growth at 6 months (z-score -1.26, p=0.006), 1 year (z-score -1.15, p<0.001), 5 years after KT (z-score -1.08, p<0.001), and on transition to adult care (z-score -1.22, p=0.012). Regarding BMI z-scores, a significant increase was also detected at all time points (p<0.001). After KT, GFR was significantly associated with height z-score (p=0.006) and BMI z-score (p=0.006). The height in transition to adult care was -1.28 SD compared to the target height. CONCLUSIONS: Despite the encouraging results regarding catch-up growth after KT in this cohort, results remain far from optimum, with a lower-than-expected height at the time of transition.

The Anesthetic Complexity of Eisenmenger Syndrome: A Clinical Case.

Eisenmenger syndrome (ES) is a complex, multisystemic, and rare clinical entity, given that currently, most congenital heart diseases can be corrected in childhood. The high anesthetic risk in these patients poses a challenge for anesthesiology. There are few cases described in the literature of anesthetic approaches using ketamine and dexmedetomidine in ES cases, particularly under Monitored Anesthesia Care (MAC). We describe the clinical case of a 40-year-old patient with trisomy 21, intellectual disability, and ES secondary to a single atrioventricular (AV) valve, scheduled for cranial magnetic resonance imaging (MRI) under sedation due to a suspected space-occupying lesion. Sedation was performed under MAC with dexmedetomidine and ketamine. The procedure proceeded without complications. The anesthetic approach in ES patients, given the clinical complexity, requires planning by a multidisciplinary team and should be tailored to the procedure and its duration.

Epidemiological and clinical insights into the enterovirus D68 upsurge in Europe 2021/22 and the emergence of novel B3-derived lineages, ENPEN multicentre study.

Enterovirus D68 (EV-D68) infections are associated with severe respiratory disease and acute flaccid myelitis (AFM). The European Non-Polio Enterovirus Network (ENPEN) aimed to investigate the epidemiological and genetic characteristics of EV-D68 and its clinical impact during the fall-winter season of 2021/22. From 19 European countries, 58 institutes reported 10,481 (6.8%) EV-positive samples of which 1,004 (9.6%) were identified as EV-D68 (852 respiratory samples). Clinical data was reported for 969 cases. 78.9% of infections were reported in children (0-5 years); 37.9% of cases were hospitalised. Acute respiratory distress was commonly noted (93.1%) followed by fever (49.4%). Neurological problems were observed in 6.4% of cases with six reported with AFM. Phylodynamic/Nextstrain and phylogenetic analyses based on 694 sequences showed the emergence of two novel B3-derived lineages, with no regional clustering. In conclusion, we describe a large-scale EV-D68 European upsurge with severe clinical impact and the emergence of B3-derived lineages.

Brain Abscess Caused by Listeria monocytogenes: A Rare Case of Supratentorial Neurolisteriosis.

Listeria monocytogenes is a Gram-positive bacillus that presents a tropism for the central nervous system (CNS). In fact, CNS involvement occurs in over two-thirds of infections caused by this agent. Meningitis is the most common manifestation, while brain abscess is rare. We present the case of a 77-year-old male patient on corticosteroid treatment for bronchiolitis obliterans organizing pneumonia with a history of unpasteurized cheese consumption, who presented with fever and altered mental status. Brain computerized tomography scan revealed left frontal cortico-subcortical hypodensity mimicking an ischemic stroke. Subsequent magnetic resonance imaging revealed a brain abscess, and blood cultures yielded Listeria monocytogenes. A good clinical outcome was achieved after appropriate antimicrobial therapy and abscess drainage. This case underscores the importance of considering Listeria monocytogenes in CNS infections, especially in immunocompromised individuals over 65 years of age. The atypical supratentorial involvement challenges the more common rhombencephalitis presentation. Maintaining a high level of suspicion in relevant populations is crucial for timely diagnosis and intervention, especially in patients with comorbidities, who present particularly high mortality rates.

Circular economyeast: Saccharomyces cerevisiae as a sustainable source of glucans and its safety for skincare application.

Glucans, a polysaccharide naturally present in the yeast cell wall that can be obtained from side streams generated during the fermentation process, have gained increasing attention for their potential as a skin ingredient. Therefore, this study focused on the extraction method to isolate and purify water-insoluble glucans from two different Saccharomyces cerevisiae strains: an engineered strain obtained from spent yeast in an industrial fermentation process and a wild strain produced through lab-scale fermentation. Two water-insoluble extracts with a high glucose content (> 90 %) were achieved and further subjected to a chemical modification using carboxymethylation to improve their water solubility. All the glucans' extracts, water-insoluble and carboxymethylated, were structurally and chemically characterized, showing almost no differences between both yeast-type strains. To ensure their safety for skin application, a broad safety assessment was undertaken, and no cytotoxic effect, immunomodulatory capacity (IL-6 and IL-8 regulation), genotoxicity, skin sensitization, and impact on the skin microbiota were observed. These findings highlight the potential of glucans derived from spent yeast as a sustainable and safe ingredient for cosmetic and skincare formulations, contributing to the sustainability and circular economy.

Unilateral Hypertrophy of the Tensor Fascia Lata.

A 57-year-old woman presented with right hip pain. The initial diagnosis was an inflammatory tendinopathy of the gluteus medius without signs of rupture, and the patient underwent an ultrasound-guided corticosteroid injection. However, 1 month later, she presented with a painful swelling on the anterior-external aspect of the right hip/thigh, with a clinical suspicion of malignancy. Magnetic resonance imaging (MRI) scan and ultrasound confirmed the diagnosis of hypertrophy of the tensor fascia lata (TFL) muscle . It is included in the differential diagnosis of soft tissue masses of the anterolateral proximal part of the thigh. The etiology is likely to be associated with gluteal muscle dysfunction. Teaching point: Unilateral hypertrophy of the fascia lata consists of an association with hypertrophy of the tensor fascia lata muscle and pathology of the minimus and medius gluteus muscles.

Effect of Bacteriophages against Biofilms of Escherichia coli on Food Processing Surfaces.

The bacterial adhesion to food processing surfaces is a threat to human health, as these surfaces can serve as reservoirs of pathogenic bacteria. Escherichia coli is an easily biofilm-forming bacterium involved in surface contamination that can lead to the cross-contamination of food. Despite the application of disinfection protocols, contamination through food processing surfaces continues to occur. Hence, new, effective, and sustainable alternative approaches are needed. Bacteriophages (or simply phages), viruses that only infect bacteria, have proven to be effective in reducing biofilms. Here, phage phT4A was applied to prevent and reduce E. coli biofilm on plastic and stainless steel surfaces at 25 °C. The biofilm formation capacity of phage-resistant and sensitive bacteria, after treatment, was also evaluated. The inactivation effectiveness of phage phT4A was surface-dependent, showing higher inactivation on plastic surfaces. Maximum reductions in E. coli biofilm of 5.5 and 4.0 log colony-forming units (CFU)/cm2 after 6 h of incubation on plastic and stainless steel, respectively, were observed. In the prevention assays, phage prevented biofilm formation in 3.2 log CFU/cm2 after 12 h. Although the emergence of phage-resistant bacteria has been observed during phage treatment, phage-resistant bacteria had a lower biofilm formation capacity compared to phage-sensitive bacteria. Overall, the results suggest that phages may have applicability as surface disinfectants against pathogenic bacteria, but further studies are needed to validate these findings using phT4A under different environmental conditions and on different materials.

Potential of an Isolated Bacteriophage to Inactivate Klebsiella pneumoniae: Preliminary Studies to Control Urinary Tract Infections.

Urinary tract infections (UTIs) caused by resistant Klebsiella pneumoniae can lead to severe clinical complications and even death. An alternative treatment option for infected patients is using bacteriophages. In the present study, we isolated phage VB_KPM_KP1LMA (KP1LMA) from sewage water using a K. pneumoniae strain as a host. Whole-genome analysis indicated that the genome was a double-stranded linear 176,096-bp long DNA molecule with 41.8% GC content and did not contain virulence or antibiotic resistance genes. The inactivation potential of phage KP1LMA was assessed in broth at an MOI of 1 and 10, and a maximum inactivation of 4.9 and 5.4 log CFU/mL, respectively, was observed after 9 h. The efficacy at an MOI of 10 was also assessed in urine to evaluate the phage's performance in an acidic environment. A maximum inactivation of 3.8 log CFU/mL was observed after 9 h. The results suggest that phage KP1LMA could potentially control a UTI caused by this strain of K. pneumoniae, indicating that the same procedure can be used to control UTIs caused by other strains if new specific phages are isolated. Although phage KP1LMA has a narrow host range, in the future, efforts can be made to expand its spectrum of activity and also to combine this phage with others, potentially enabling its use against other K. pneumoniae strains involved in UTIs.

Harvesting the Power of Green Synthesis: Gold Nanoparticles Tailored for Prostate Cancer Therapy.

Biosynthetic gold nanoparticles (bAuNPs) present a promising avenue for enhancing bio-compatibility and offering an economically and environmentally responsible alternative to traditional production methods, achieved through a reduction in the use of hazardous chemicals. While the potential of bAuNPs as anticancer agents has been explored, there is a limited body of research focusing on the crucial physicochemical conditions influencing bAuNP production. In this study, we aim to identify the optimal growth phase of Pseudomonas aeruginosa cultures that maximizes the redox potential and coordinates the formation of bAuNPs with increased efficiency. The investigation employs 2,6-dichlorophenolindophenol (DCIP) as a redox indicator. Simultaneously, we explore the impact of temperature, pH, and incubation duration on the biosynthesis of bAuNPs, with a specific emphasis on their potential application as antitumor agents. Characterization of the resulting bAuNPs is conducted using ATR-FT-IR, TEM, and UV-Vis spectroscopy. To gain insights into the anticancer potential of bAuNPs, an experimental model is employed, utilizing both non-neoplastic (HPEpiC) and neoplastic (PC3) epithelial cell lines. Notably, P. aeruginosa cultures at 9 h/OD600 = 1, combined with biosynthesis at pH 9.0 for 24 h at 58 °C, produce bAuNPs that exhibit smaller, more spherical, and less aggregated characteristics. Crucially, these nanoparticles demonstrate negligible effects on HPEpiC cells while significantly impacting PC3 cells, resulting in reduced viability, migration, and lower IL-6 levels. This research lays the groundwork for the development of more specialized, economical, and ecologically friendly treatment modalities.

Pain as a disease in the new International Classification of Diseases (ICD-11): Latin American expert consensus.

Aims: Pain diagnoses in the 10th version of the International Classification of Diseases (ICD-10) did not adequately support the current management of pain. Therefore, we aimed to review the new 11th revision (ICD-11) in order to analyze its usefulness for the management, coding, research and education of chronic pain from a Latin American perspective. Methods: The Latin American Federation of Associations for the Study of Pain convened a meeting of pain experts in Lima, Peru. Pain specialists from 14 Latin American countries attended the consensus meeting. Results: In ICD-11, chronic pain is defined as pain that persists or recurs longer than 3 months and is subdivided into seven categories: chronic primary pain and six types of chronic secondary pain. Chronic primary pain is now considered a disease in itself, and not a mere symptom of an underlying disease. Conclusion: The novel definition and classification of chronic pain in ICD-11 is helpful for better medical care, research and health statistics. ICD-11 will improve chronic pain management in Latin American countries, for both the pain specialist and the primary care physician.

Chronic pain is one of the most frequent reasons for medical consultation in Latin America. In the tenth revision of the International Classification of Diseases and Related Health Problems (ICD-10), chronic pain was not adequately defined and individual pain diagnoses were poorly defined. For the first time in Latin America, a meeting of pain experts analyzed and reviewed the 11th version of the International Classification of Diseases (ICD-11), when the Latin America Federation of Associations for the Study of Pain organized a meeting of experts from 14 Latin American countries. In ICD-11, chronic pain is recognized as a biopsychosocial phenomenon and defined as pain that continues or returns for more than 3 months. It is split into seven types: chronic primary pain and six types of chronic secondary pain. In ICD-11, chronic primary pain is now considered a disease in itself, not a mere manifestation of other disease. Our article is the first to address the problems, challenges and benefits of using ICD-11 from a Latin American perspective. It will help to facilitate and disseminate the use of this new classification of chronic pain. This will improve chronic pain treatment, statistics, research and development of better health strategies for pain management in Latin America.

Exploring the Impacts of Sorghum (Sorghum bicolor L. Moench) Germination on the Flour's Nutritional, Chemical, Bioactive, and Technological Properties.

Germination is a natural, simple, and economical process used to improve the quality of nutritional and technological grains. In this study, native and sprouted sorghum flours were characterized regarding their technological properties (particle size distribution, water, and oil absorption capacity, swelling power and solubility, microscopy of starch granules, and pasting and thermal properties). Nutritional and phytochemical characterization profiles, including free sugars, fatty acids, organic acids, tocopherols, and phenolic compounds, were explored through chromatographic methods. The antioxidant, anti-inflammatory, and cytotoxic activities of the respective hydroethanolic extracts were also evaluated. The results showed that the germination process caused significant changes in the flour composition and properties, causing reduced gelatinization temperature and retarded starch retrogradation; an increased content of free sugars and total organic acids; and a decreased content of tocopherols and phenolic compounds. In terms of bioactivity, the sprouted sorghum flour extract showed better lipid-peroxidation-inhibition capacity and none of the extracts revealed hepatotoxicity or nephrotoxicity, which are important results for the validation of the use of the flours for food purposes. Germination is an efficient and alternative method for grain modification that gives improved technological properties without chemical modification or genetic engineering.

Building Bridges between People with Stroke, Families, and Health Professionals: Development of a Blended Care Program for Self-Management.

Evidence-informed interventions for stroke self-management support can influence functional capability and social participation. People with stroke should be offered self-management support after hospital discharge. However, in Portugal, there are no known programs of this nature. This study aimed to develop a person-centered and tailored blended care program for post-stroke self-management, taking into account the existing evidence-informed interventions and the perspectives of Portuguese people with stroke, caregivers, and health professionals. An exploratory sequential mixed methods approach was used, including qualitative methods during stakeholder consultation (stage 1) and co-production (stage 2) and quantitative assessment during prototyping (stage 3). After ethical approval, recruitment occurred in three health units. Results from a literature search led to the adaptation of the Bridges Stroke Self-Management Program. In stage one, 47 participants were interviewed, with two themes emerging: (i) Personalized support and (ii) Building Bridges through small steps. In stage two, the ComVida program was developed, combining in-person and digital approaches, supported by a workbook and a mobile app. In stage three, 56 participants evaluated prototypes, demonstrating a strong level of quality. Understandability and actionability of the developed tools obtained high scores (91-100%). The app also showed good usability (A-grade) and high levels of recommendation (5 stars).

Vaginal prevention of Candida albicans: synergistic effect of lactobacilli and mannan oligosaccharides (MOS).

Vulvovaginal candidiasis (VVC) affects approximately 30-50% of women at least once during their lifetime, causing uncomfortable symptoms and limitations in their daily quality of life. Antifungal therapy is not very effective, does not prevent recurrencies and usually causes side effects. Therefore, alternative therapies are urgently needed. The goal of this work was to investigate the potential benefits of using mannan oligosaccharides (MOS) extracts together with a Lactobacillus sp. pool, composed by the most significant species present in the vaginal environment, to prevent infections by Candida albicans. Microbial growth of isolated strains of the main vaginal lactobacilli and Candida strains was assessed in the presence of MOS, to screen their impact upon growth. A pool of the lactobacilli was then tested against C. albicans in competition and prophylaxis studies; bacterial and yeast cell numbers were quantified in specific time points, and the above-mentioned studies were assessed in simulated vaginal fluid (SVF). Finally, adhesion to vaginal epithelial cells (HeLa) was also evaluated, once again resorting to simultaneous exposure (competition) or prophylaxis assays, aiming to measure the effect of MOS presence in pathogen adherence. Results demonstrated that MOS extracts have potential to prevent vaginal candidiasis in synergy with vaginal lactobacilli, with improved results than those obtained when using lactobacilli alone. KEY POINTS: Potential benefits of MOS extracts with vaginal lactobacilli to prevent C. albicans infections. MOS impacts on growth of vaginal lactobacilli pool and C. albicans in SVF. MOS extracts in synergy with L. crispatus inhibit C. albicans adhesion in HeLa cells.

Structure and properties of Quercus robur acorn starch extracted by pulsed electric field technology.

Pulsed electric field (PEF) technology was used to extract starch from Q. robur flours using low-intensity electric fields (0 and 0.1 kV/cm) and study the impact of PEF on the structure and properties of acorn starch concerning commercial starch. PEF technology is an advantageous method for starch extraction than the aqueous steeping from an industrial perspective since reduces extraction time and allows for continuous processing of larger suspension volumes. PEF technology preserved the amylose and amylopectin contents, hydrogen bonds, and diffraction patterns, as well as the starch native properties. Hence, PEF could be used to obtain native starches, but future studies should verify its economic viability. Acorn starches have lower damaged starch content, gelatinization temperatures, enthalpies, improved pseudoplastic behavior, reduced in-vitro digestibility, and lower resistance to deformation compared to commercial corn starch. The higher solubility and swelling power of acorn starches up to 80 °C make them a suitable food additive in fermented yogurt and milk products and thus help to value acorn and acorn starches. Hence, acorns can be used to obtain native starches, a food ingredient with a wide range of food and non-food usage, using PEF.

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

INTRODUCTION: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. COPD32 is characterized mainly by a severe Leigh-like syndrome. METHODS: Whole-exome sequencing identified a homozygous pathogenic variant in the MRPS34 gene, c.322-10G>A. Only the mother was heterozygous for this variant. SNP-array analysis was performed, which revealed a region of absence of heterozygosity in variant 16q with 9.8Mb, compatible with maternal uniparental disomy. RESULTS/CASE REPORT: We report the case of an 18-year-old female with unremarkable family history. The pregnancy was complicated by oligohydramnios, and the neonatal period was unremarkable. She evolved with low weight, mild-moderate developmental delay/intellectual disability, and hypogonadotropic hypogonadism. On examination, she had slender habitus, joint laxity, and kyphoscoliosis. The cardiac evaluation was normal, and the head MRI showed bilateral olivary nucleus degeneration that was not confirmed subsequently. Extensive metabolic studies documented only mild lactate and pyruvate elevation, and the chromosomal microarray was normal. CONCLUSION: We have reported the case of the first patient with COPD32 due to partial maternal uniparental disomy of chromosome 16, being first in Portugal and seventh in the literature. Contrarily to previous patients, who died in the first months of life or survived with severe DD/ID, and had a Leigh-like syndrome, this case is significantly milder, contributing to a better characterization of the phenotypic spectrum. Recurrence risk is unexpectedly low in this instance. This case illustrates the importance of segregation analysis in patients with homozygous recessive mutations.