Genomic comparison of two strains of Mycobacterium avium subsp. paratuberculosis with contrasting pathogenic phenotype.

In a previous study, we evaluated the degree of virulence of Mycobacterium avium subsp. paratuberculosis (Map) strains isolated from cattle in Argentina in a murine model. This assay allowed us to differentiate between high-virulent MapARG1347 and low-virulent MapARG1543 strains. To corroborate whether the differences in virulence could be attributed to genetic differences between the strains, we performed Whole Genome Sequencing and compared the genomes and gene content between them and determined the differences related to the reference strain MapK10. We found 233 SNPs/INDELS in one or both strains relative to Map K10. The two strains share most of the variations, but we found 15 mutations present in only one of the strains. Considering NS-SNP/INDELS that produced a severe effect in the coding sequence, we focus the analysis on four predicted proteins, putatively related to virulence. Survival of MapARG1347 strain in bMDM was higher than MapARG1543 and was more resistant to acidic pH and H2O2 stresses than MapK10. The genomic differences between the two strains found in genes MAP1203 (a putative peptidoglycan hydrolase), MAP0403 (a putative serine protease) MAP1003c (a member of the PE-PPE family) and MAP4152 (a putative mycofactocin binding protein) could contribute to explain the contrasting phenotype previously observed in mice models.

Hipoxemia silenciosa y uso de oxímetro de pulso en el hogar para detección precoz de complicaciones por Covid-19: reporte de un caso y revisión de la literatura / Silent hypoxemia and use of pulse oximeter at home for early detection of complications from Covid-19: a case report and review of the literature

Silent hypoxemia is one of the clinical presentations caused by SARS-CoV-2. It is still considered a medical mystery, as there are inconsistencies between arterial oxygen saturation levels and respiratory symptoms; a clinical scenario that had not been seen before. Their main risk is that it delays medical assistance because they do not have breathing difficulties and, when they consult, the lung damage is quite advanced. The early detection of hypoxia can favor the premature diagnosis of COVID-19 pneumonia and start treatment without delay. The pulse oximeter is presented as a useful, inexpensive, and easy-to-use tool for monitoring oxygen saturation at home in mild illness and detecting silent hypoxemia. This work presents the case of a patient with COVID-19 who, thanks to the use of a pulse oximeter at home, was able to detect silent hypoxemia and favored the early diagnosis of SARS-CoV-2 pneumonia. (AU)

Fungal Planet description sheets: 1042-1111.

Novel species of fungi described in this study include those from various countries as follows: Antarctica, Cladosporium arenosum from marine sediment sand. Argentina, Kosmimatamyces alatophylus (incl. Kosmimatamyces gen. nov.) from soil. Australia, Aspergillus banksianus, Aspergillus kumbius, Aspergillus luteorubrus, Aspergillus malvicolor and Aspergillus nanangensis from soil, Erysiphe medicaginis from leaves of Medicago polymorpha, Hymenotorrendiella communis on leaf litter of Eucalyptus bicostata, Lactifluus albopicri and Lactifluus austropiperatus on soil, Macalpinomyces collinsiae on Eriachne benthamii, Marasmius vagus on soil, Microdochium dawsoniorum from leaves of Sporobolus natalensis, Neopestalotiopsis nebuloides from leaves of Sporobolus elongatus, Pestalotiopsis etonensis from leaves of Sporobolus jacquemontii, Phytophthora personensis from soil associated with dying Grevillea mccutcheonii. Brazil, Aspergillus oxumiae from soil, Calvatia baixaverdensis on soil, Geastrum calycicoriaceum on leaf litter, Greeneria kielmeyerae on leaf spots of Kielmeyera coriacea. Chile, Phytophthora aysenensis on collar rot and stem of Aristotelia chilensis. Croatia, Mollisia gibbospora on fallen branch of Fagus sylvatica. Czech Republic, Neosetophoma hnaniceana from Buxus sempervirens. Ecuador, Exophiala frigidotolerans from soil. Estonia, Elaphomyces bucholtzii in soil. France, Venturia paralias from leaves of Euphorbia paralias. India, Cortinarius balteatoindicus and Cortinarius ulkhagarhiensis on leaf litter. Indonesia, Hymenotorrendiella indonesiana on Eucalyptus urophylla leaf litter. Italy, Penicillium taurinense from indoor chestnut mill. Malaysia, Hemileucoglossum kelabitense on soil, Satchmopsis pini on dead needles of Pinus tecunumanii. Poland, Lecanicillium praecognitum on insects' frass. Portugal, Neodevriesia aestuarina from saline water. Republic of Korea, Gongronella namwonensis from freshwater. Russia, Candida pellucida from Exomias pellucidus, Heterocephalacria septentrionalis as endophyte from Cladonia rangiferina, Vishniacozyma phoenicis from dates fruit, Volvariella paludosa from swamp. Slovenia, Mallocybe crassivelata on soil. South Africa, Beltraniella podocarpi, Hamatocanthoscypha podocarpi, Coleophoma podocarpi and Nothoseiridium podocarpi (incl. Nothoseiridium gen. nov.) from leaves of Podocarpus latifolius, Gyrothrix encephalarti from leaves of Encephalartos sp., Paraphyton cutaneum from skin of human patient, Phacidiella alsophilae from leaves of Alsophila capensis, and Satchmopsis metrosideri on leaf litter of Metrosideros excelsa. Spain, Cladophialophora cabanerensis from soil, Cortinarius paezii on soil, Cylindrium magnoliae from leaves of Magnolia grandiflora, Trichophoma cylindrospora (incl. Trichophoma gen. nov.) from plant debris, Tuber alcaracense in calcareus soil, Tuber buendiae in calcareus soil. Thailand, Annulohypoxylon spougei on corticated wood, Poaceascoma filiforme from leaves of unknown Poaceae. UK, Dendrostoma luteum on branch lesions of Castanea sativa, Ypsilina buttingtonensis from heartwood of Quercus sp. Ukraine, Myrmecridium phragmiticola from leaves of Phragmites australis. USA, Absidia pararepens from air, Juncomyces californiensis (incl. Juncomyces gen. nov.) from leaves of Juncus effusus, Montagnula cylindrospora from a human skin sample, Muriphila oklahomaensis (incl. Muriphila gen. nov.) on outside wall of alcohol distillery, Neofabraea eucalyptorum from leaves of Eucalyptus macrandra, Diabolocovidia claustri (incl. Diabolocovidia gen. nov.) from leaves of Serenoa repens, Paecilomyces penicilliformis from air, Pseudopezicula betulae from leaves of leaf spots of Populus tremuloides. Vietnam, Diaporthe durionigena on branches of Durio zibethinus and Roridomyces pseudoirritans on rotten wood. Morphological and culture characteristics are supported by DNA barcodes.

Sialorrea neurogénica infantil y el manejo con la toxina botulínica: revisión de la literatura y reporte del caso de un niño con traqueostomía y ventilación mecánica crónica / Neurogenic drooling child and his treatment with botulinum toxin: a review of the literature and case report of a child with chronic tracheostomy and mechanical ventilation

Drooling is defined as non-intentional salivary loss from mouth. Its presence may lead to functional, psychological and social impairments, which affect patients and caregivers as well. Anterior drooling, where salivary flow escapes from mouth to outside, affects social relations, constituting a physical contact barrier and having a negative impact on quality of life, and it also interfere on speech and communication. Posterior drooling, where salivary flow goes towards the throat is associated to severe swallowing disorders, being an important aspiration risk. Although drooling etiology is multifactorial, it’s often seen associated to a neuromuscular dysfunction. The approach to drooling should be made by a multidisciplinary team. Therapeutic approach could be non-pharmacologic, pharmacologic, systemic or local. Ultrasound guidance Botulinum toxin injection is an efficient and safe alternative. A 4-year-old male with posterior fossa astrocytoma, VI-XI CN impairment, prolonged mechanical ventilation and tracheostomy, swallowing disorder and hypersalivation is presented. Drooling management with botulinum toxin A injection in both parotid and submandibular glands under ultrasound guidance was performed, with an important salivary flow decrease, which allowed him to open his mouth without saliva loss, having a positive impact on communication and socialization, improving his quality of life as well.

La sialorrea se define como la pérdida no intencional de saliva desde la boca. Su presencia puede conducir a alteraciones funcionales, psicológicas y sociales, que afectan tanto al paciente como a sus cuidadores. La sialorrea anterior, donde la saliva es derramada desde la boca al exterior afecta la socialización, constituyéndose como una barrera para el contacto físico e impacta en forma negativa sobre la calidad de vida, además interfiere en el lenguaje, el habla y la comunicación. La sialorrea posterior que es derramada hacia del itsmo de las fauces, se asocia a trastornos severos de la deglución, constituyendo un riesgo importante de aspiración. Aún cuando la etiología de la sialorrea es multifactorial, frecuentemente la vemos asociada a una disfunción neuromuscular. Su abordaje debe ser realizado por un equipo multidisciplinario. El enfoque terapéutico puede ser, no farmacológico o farmacológico, sistémico o local. Una de las alternativas es la infiltración con toxina botulínica guiada en forma ecográfica que ha demostrado ser eficiente y segura. Se presenta el caso de un preescolar de 4 años con antecedente de astrocitoma de fosa posterior, compromiso de VI al XI pares craneanos, ventilación mecánica prolongada a través de traqueostomía, trastorno de deglución e hipersalivación secundaria. Se realiza el manejo de la sialorrea con toxina botulínica A en parótidas y glándulas submandibulares con marcación ecográfica, resultando una disminución importante del flujo de saliva que le permite abrir la boca sin escurrimiento. Lo anterior impacta positivamente en la comunicación y socialización, además de mejorar su calidad de vida.

[Giant cell tumor of the tendon sheath: characteristic findings of the bone scintigraphy and correlation with MRI]. / Tumor de células gigantes de la vaina tendinosa: hallazgos característicos de la gammagrafía ósea y correlación con la RMN.

We report 3 cases of an unusual tumor, that is, the giant cell tumor of the tendon sheath. The patients consulted due to the appearance of a well-defined, painless, soft tissue mass with mild-to-moderate inflammation located in the thumbs or toes. These clinical data, together with the bone scan findings, oriented the diagnostic suspicion that was confirmed by a pathology study of the tumor after resection. This work has aimed to review the characteristics of the bone scan (BS) image of this tumor and its correlation with the conventional X-ray imaging and magnetic resonance imaging (MRI).

Tumor de células gigantes de la vaina tendinosa: hallazgos característicos de la gammagrafía ósea y correlación con la RMN / Giant cell tumor of the tendon sheath: characteristic findings of the bone scintigraphy and correlation with MRI

Presentamos 3 casos de un tumor poco usual: el tumor de células gigantes de la vaina tendinosa. Los pacientes consultaron por la aparición de una masa de partes blandas, delimitada y no dolorosa, acompañada de leve-moderada inflamación, localizada en un dedo de la mano o el pie. Estos datos clínicos junto con las características gammagráficas orientaron la sospecha diagnóstica, que se confirmó mediante el estudio anatomopatológico de la lesión tras su exéresis quirúrgica. El objetivo del trabajo es revisar las características de la imagen gammagráfica ósea de este tumor y su correlación con la radiografía convencional y la resonancia magnética nuclear(AU)

We report 3 cases of an unusual tumor, that is, the giant cell tumor of the tendon sheath. The patients consulted due to the appearance of a well-defined, painless, soft tissue mass with mild-to-moderate inflammation located in the thumbs or toes. These clinical data, together with the bone scan findings, oriented the diagnostic suspicion that was confirmed by a pathology study of the tumor after resection. This work has aimed to review the characteristics of the bone scan (BS) image of this tumor and its correlation with the conventional X-ray imaging and magnetic resonance imaging (MRI)(AU)

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.

Uromodulin (UMOD) malfunction has been found in a range of autosomal dominant tubulointerstitial nephropathies associated with hyperuricaemia, gouty arthritis, medullary cysts and renal failure-labelled as familial juvenile hyperuricaemic nephropathy, medullary cystic disease type 2 and glomerulocystic kidney disease. To gain knowledge of the spectrum of UMOD changes in various genetic diseases with renal involvement we examined urinary UMOD excretion and found significant quantitative and qualitative changes in 15 male patients at various clinical stages of Fabry disease. In untreated patients, the changes ranged from normal to a marked decrease, or even absence of urinary UMOD. This was accompanied frequently by the presence of aberrantly processed UMOD lacking the C-terminal part following the K432 residue. The abnormal patterns normalized in all patients on enzyme replacement therapy and in some patients on substrate reduction therapy. Immunohistochemical analysis of the affected kidney revealed abnormal UMOD localization in the thick ascending limb of Henle's loop and the distal convoluted tubule, with UMOD expression inversely proportional to the degree of storage. Our observations warrant evaluation of tubular functions in Fabry disease and suggest UMOD as a potential biochemical marker of therapeutic response of the kidney to therapy. Extended comparative studies of UMOD expression in kidney specimens obtained during individual types of therapies are therefore of great interest.

Do gender and torus mandibularis affect mandibular cortical index? A cross-sectional study.

BACKGROUND: The interactions between torus and several factors such as age, gender, and dental status have not been studied comprehensively. The purpose of this study was to determine the effect of gender on the mandibular cortical index (MCI) and to investigate a possible association between torus mandibularis (TM) and MCI. METHODS: The study consisted of 189 consecutive patients referred to Department of Oral Diagnosis and Radiology of Hacettepe University within 30 workdays. Patients who did not have systemic disorders affecting bone density were included; and the age, gender, dental status and existing TM of the patients were recorded. Morphology of the mandibular inferior cortex was determined according to Klemitti's classification on panoramic radiographs. RESULTS: MCI was affected by age and gender (P < 0.05). No significant relationship was found between TM and MCI (P > 0.05). CONCLUSION: In the study population, MCI was affected by age and gender. As age increased, semilunar defects could be seen on the cortex of the mandible and MCI values increased. Women appeared to have higher MCI values than men.

Defectos del desarrollo del esmalte dentario en los primeros molares definitivos / No disponible

Objetivos: cuantificar los defectos del desarrollo del esmalte (DDE) en los cuatro primerosmolares definitivos (PMD), conocer el grado de DDE según Al Alousi, conocer la asociaciónentre DDE y patologías infeccioso-febril-alérgicas y conocer epidemiológicamente a losusuarios de odontopediatría: sexo, edad, nacionalidad e índices de caries.Material y métodos: estudio descriptivo transversal. Selección: muestreo consecutivo. Población:1.113 niños de 3 a 14 años. Encuesta a la madre y exploración bucal al niño. Variables:sexo, edad, nacionalidad, grado de lesión del esmalte, síndrome febril en el embarazo (SFE), síndromefebril en el niño (SFN), varicela, sarampión, rubéola, gastroenteritis y/o asma en los tresprimeros años de vida. Índices de caries: co (dentición temporal) y CAO (dentición definitiva).Resultados: 554 niños (49,8%) y 559 niñas (50,2%). co: 1,05; CAO: 0,42. Inmigrantes:118 (10,6%), el 53,4% latinoamericanos. 745 niños (66,9%) tienen los cuatro PMD erupcionados;de éstos, 558 (74,9%) no presentan DDE. Tienen DDE grado F (necesitan obturación)23 (3,1%). De los niños con DDE, 104 (14%) tuvieron SFN (p < 0,05) y 259 (34,8%)varicela (p < 0,05).Conclusiones: acuden con más frecuencia los de 6 años y las visitas disminuyen con laedad. Los inmigrantes tienen índices de caries superiores a los españoles. El 75% de los niñosno tiene DDE. El grado de DDE más frecuente es el A, el más leve. El 3,1% de los niñosrequiere tratamiento. Encontramos asociación entre la aparición de DDE y haber presentadoSFN o varicela en los 3 primeros años de vida

Objectives: to quantify the enamel development’s defects (EDD) in the four first definitivemolars (FDM), to know the EDD’s degree according to Al Alousi, to know the connection between EDD and the infectious-feverish-allergic pathologies and to know the epidemiologyof the users of odontopaediatrics: sex, age, nationality and dental decay indexes.Material and methods: transverse descriptive study. Selection: consecutive sampling.Population 1,113 children between 3 and 14 years. To inquiry to the mother and to doa mouth probe to the child. Variables: sex, age, nationality, degree of injury of the enamel,feverish syndrome in the pregnancy (FSP), feverish syndrome in the child (FSCh), chickenpox,measles, german measles, gastroenteritis and/or asthma in the first 3 years of life. Indexesof dental decay: co (temporary dentition) and CAO (definitive dentition).Results: 554 children (49.8%) and 559 girls (50.2%). co: 1.05; CAO: 0.42. Immigrants118 (10.6%), latin-americans 53.4%. 745 children (66.9%) have the four FDM eruptionated,of these, 558 (74.9%) do not show EDD. 23 (3.1%) have EDD with F degree (they needobturation). Considering the children with EDD, 104 (14%) had had FSCh (p < 0.05) and259 (34.8%) chickenpox (p < 0.05).Conclusions: they come with more frequency at the age of six years, decreasing the visitswith the age. The immigrants have an index of dental decay higher than Spanish. 75%of the children don’t have EDD. The EDD degree most frequent is the A, the slightest. 31%of the children need treatment. We find connection between EDD’s appearance and havingpresented FSCh or chickenpox in the first three years of life (AU)

[Evaluation of renal lesions using 99mTc-DMSA in children with urinary tract infection and the relation with vesicoureteral reflux]. / Evaluación de lesiones renales mediante 99mTc-DMSA en niños con antecedentes de infección del tracto urinario y su relación con el reflujo vesicoureteral.

OBJECTIVE: Paediatric patients with urinary tract infection (UTI) have risk of developing renal scarrings. Although it is known that vesicoureteral reflux (VUR) predisposes to UTIs and it seems to have an important role in the development of renal lesions, some recent published studies question that relation. The aim of the study was to evaluate renal scarring by using renal scintigraphy 99mTc-DMSA and see the relation with or without the presence of VUR. MATERIAL AND METHODS: We evaluated retrospectively a total of 230 patients (460 renal units), mean age: 11 months (range: 12d-5y), with UTI probed by urinoculture. All were studied with voiding cistourethrography (MCU) to evaluate the presence or absence of VUR. Patients were evaluated with 99mTc-DMSA scan 6 months after UTI to determine if UTI caused renal scarring. RESULTS: Renal scans with 99mTc-DMSA 6 months post-infection were abnormal in 62 renal units, affecting 54 patients (23 %). From all patients studied, 110 were diagnosis of VUR being affected 161 renal units, 43 of them (27 %) presented renal scarrings. From the remaining 120 patients without VUR that is 240 renal units, 19 of them (8 %) presented parenchymatous damage. CONCLUSION: Renal scarring resulting from UTI are in some cases related to VUR, but sometimes are caused by the infection itself. Not all patients with VUR develop renal lesions, and neither the presence of VUR always predispose children to renal lesions. MCU and direct isotopic cystography are useful for diagnosis of VUR but we shouldn't avoid 99mTc-DMSA scan in the management of children with UTI.

Debemos hacer mucho más / We still have to do much more

No disponible

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

An infant presented with multifocal myoclonus and cyanotic hypoxemia immediately after birth, and severe feeding problems, a protein-losing enteropathy, massive ascites and grand-mal epilepsy marked his rapid downhill course, with death at 17 weeks. At 2 weeks, brain MRI revealed grey matter heterotopias in the parieto-occipital regions suggestive of a cortical morphogenetic disorder. In cultured skin fibroblasts, lipid storage and reduced activities of ceramidase, galactosylceramide beta-galactosidase and glucosylceramide beta-glucosidase were evident. Autopsy disclosed generalised lysosomal lipid storage with macrophages and adrenal cortex prominently affected. The pattern of stored lipids in cultured fibroblasts and in dewaxed spleen tissue blocks was compatible with a diagnosis of prosaposin (pSap) deficiency (pSap-d). Neuropathologically, there was a pronounced generalised neurolysosomal storage combined with a severe depletion of cortical neurons and extreme paucity of myelin and oligodendroglia. This pathology, in particular the massive neuronal loss, differed from that in other neurolipidoses and could be explained by the reduced hydrolysis of multiple sphingolipids and the loss of pSap's neurotrophic function. The absence of immunostainable saposins on tissue sections and the presence of a homozygous c.1 A > T mutation in the prosaposin gene confirmed the diagnosis. PSap-d may be an underdiagnosed condition in infants with severe neurological and dystrophic signs starting immediately after birth.

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

A fatal infantile storage disorder with hepatosplenomegaly and severe neurological disease is described. Sphingolipids, including monohexosylceramides (mainly glucosylceramide), dihexosylceramides (mainly lactosylceramide), globotriaosyl ceramide, sulphatides, ceramides and globotetraosyl ceramide, were stored in the tissues. In general, cholesterol and sphingomyelin levels were unaltered. The storage process was generalized and affected a number of cell types, with histiocytes, which infiltrated a number of visceral organs and the brain, especially involved. The ultrastructure of the storage lysosomes was membranous with oligolamellar, mainly vesicular, profiles. Infrequently, there were Gaucher-like lysosomes in histiocytes. The neuropathology was severe and featured neuronal storage and loss with a massive depopulation of cortical neurons and pronounced fibrillary astrocytosis. There was a paucity of myelin and stainable axons in the white matter with signs of active demyelination. Immunohistochemical investigations indicated that saposins A, B, C and D were all deficient. The patient was homozygous for a 1 bp deletion (c.803delG) within the SAP-B domain of the prosaposin gene which leads to a frameshift and premature stop codon. In the heterozygous parents, mutant cDNA was detected by amplification refractory mutation analysis in the nuclear, but not the cytoplasmic, fraction of fibroblast RNA, indicating that the mutant mRNA was rapidly degraded. The storage process in the proband resembled that of a published case from an unrelated family. Saposins were also deficient in this case, leading to its reclassification as prosaposin deficiency, and her mother was found to be a carrier for the same c.803delG mutation. Both of the investigated families came from the same district of eastern Slovakia.

[67 Ga-citrate scintigraphy as a determiner in the diagnosis of a subacute thyroiditis]. / Gammagrafía con 67Ga-citrato determinante en el diagnóstico de una tiroiditis subaguda.

We present the case of a 41-year-old man admitted to the hospital with fever and toxic syndrome possibly having an oncological or infectious origin. A whole body scan with 67Ga-citrate showed an intense and diffuse radiotracer accumulation in the thyroid gland. The patient was re-evaluated and studied with other diagnostic tests including a thyroid 99mTc-pertechnetate scintigraphy and a thyroidal radioiodine uptake. A correct final diagnosis of painless subacute thyroiditis was made.

Gammagrafía con 67Ga-citrato determinante en el diagnóstico de una tiroiditis subaguda / 67 Ga-citrate scintigraphy as a determiner in the diagnosis of a subacute thyroiditis

Presentamos el caso de un paciente varón de 41 años de edad que ingresó en nuestro hospital para estudio de fiebre y síndrome tóxico de posible etiología neoplásica o infecciosa. La prueba que condujo al diagnóstico definitivo fue un rastreo corporal total con citrato de 67Ga que mostró la existencia de hipercaptación difusa a nivel de glándula tiroides. Tras una nueva valoración del proceso y practicadas otras exploraciones complementarias, que incluyeron gammagrafía de tiroides con 99mTc- pertecnetato y captaciones con 131I, se llegó al diagnóstico definitivo de tiroiditis subaguda silente (AU)