Q Fever Chronic Osteomyelitis in Two Children

We report 2 cases of chronic Q fever osteomyelitis in 10- and 5-year-old girls who presented with distal right femoral and left parasternal granulomatous osteomyelitis, respectively. Both were treated with ciprofloxacin and rifampin with good response. Q fever osteomyelitis is a challenging diagnosis in children, and the choice of antimicrobial treatment is difficult because of limited available data.info:eu-repo/semantics/publishedVersio

Congenital Lobar Emphysema: A Multilobar Presentation

O enfisema lobar congénito é umamalformação rara do tracto respiratório inferior detectada habitualmente nos primeiros meses de vida. Apresenta-se o caso de um lactente, do sexo masculino, de dois meses de idade, internado por suspeita de pneumonia, no qual a segunda radiografia de tórax revelou hipertransparência arredondada no lobo inferior esquerdo, sugestiva de enfisema lobar congénito. A tomografia computorizada torácica mostrou uma imagem quística,multilobar, e a broncoscopia excluiu obstrução brônquica. Foi programada cirurgia para os seis meses de idade, mas aos três meses foi submetido a intervenção cirúrgica urgente por pneumotórax hipertensivo. O exame anatomo-patológico da peça operatória permitiu o diagnóstico de enfisema lobar congénito. Destaca-se a apresentação multilobar e a complicação por pneumotórax

Quisto Broncogénico: Elemento Radiológico Sugestivo

O quisto broncogénico constitui a lesão quística mais comum do mediastino. Descreve-se o caso de uma criança do sexo feminino, de quatro anos de idade, com tosse estridulosa recorrente desde os dois anos e febre de início recente. A radiografia de tórax revelou desvio da linha ázigo-esofágica, o que levantou a suspeita de lesão mediastínica.A tomografia computorizada torácica mostrou lesão mediastínica que foi posteriormente identificada por ressonância magnética como correspondendo a um quisto broncogénico. Três meses depois foi submetida a cirurgia com exérese do quisto e desde então, decorrido um ano, tem estado assintomática. Destaca-se a importância da identificação de referências radiológicas que podem ser relevantes para o diagnóstico de lesões ocupando espaço no mediastino

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Malaltia mitocondrial; Medicina mitocondrial; Deficiència de timidina cinasa 2 (TK2d)Mitochondrial disease; Mitochondrial medicine; Thymidine kinase 2 deficiency (TK2d)Enfermedad mitocondrial; Medicina mitocondrial; Deficiencia de timidina cinasa 2 (TK2d)Background Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. Here, we describe a unique collaborative practice model among physicians and scientists in Spain focused on identifying TK2 deficiency (TK2d), an ultra-rare mitochondrial DNA depletion and deletions syndrome. Main Body This collaboration spans research and clinical care, including laboratory scientists, adult and pediatric neuromuscular clinicians, geneticists, and pathologists, and has resulted in diagnosis and consolidation of care for patients with TK2d. The incidence of TK2d is not known; however, the first clinical cases of TK2d were reported in 2001, and only ~ 107 unique cases had been reported as of 2018. This unique collaboration in Spain has led to the diagnosis of more than 30 patients with genetically confirmed TK2d across different regions of the country. Research affiliate centers have led investigative treatment with nucleosides based on understanding of TK2d clinical manifestations and disease mechanisms, which resulted in successful treatment of a TK2d mouse model with nucleotide therapy in 2010. Only 1 year later, this collaboration enabled rapid adoption of treatment with pyrimidine nucleotides (and later, nucleosides) under compassionate use. Success in TK2d diagnosis and treatment in Spain is attributable to two important factors: Spain’s fully public national healthcare system, and the designation in 2015 of major National Reference Centers for Neuromuscular Disorders (CSURs). CSUR networking and dissemination facilitated development of a collaborative care network for TK2d disease, wherein participants share information and protocols to request approval from the Ministry of Health to initiate nucleoside therapy. Data have recently been collected in a retrospective study conducted under a Good Clinical Practice–compliant protocol to support development of a new therapeutic approach for TK2d, a progressive disease with no approved therapies. Conclusions The Spanish experience in diagnosis and treatment of TK2d is a model for the diagnosis and development of new treatments for very rare diseases within an existing healthcare system.This study was sponsored by Zogenix, Inc., and ERN EURO-NMD. The sponsors reviewed the drafts and provided medical writing support for draft preparation

Physical activity behaviour up to 1 year post-rehabilitation among adults with physical disabilities and/or chronic diseases: results of the prospective cohort study ReSpAct

Background Little is known of physical activity behaviouramong adults with a disability and/or chronic disease during and up to 1 year post-rehabilitation. We aimed to explore (1) dose characteristics of physical activity behaviour among adults with physical disabilities and/or chronic diseases during that period, and (2) the effects of personal characteristics and diagnosis on the development of physical activity over time.Methods Adults with physical disabilities and/or chronic diseases (N=1256), enrolled in the Rehabilitation, Sports and Active lifestyle study, were followed with questionnaires: 3–6 weeks before (T0) and 14 (T1), 33 (T2) and 52 (T3) weeks after discharge from rehabilitation. Physical activity was assessed with the adepted version of the Short Questionnaire to ASsess Health enhancing physical activity. Dose characteristics of physical activity were descriptively analysed. Multilevel regression models were performed to assess physical activity over time and the effect of personal and diagnosis characteristics on physical activity over time.Results Median total physical activity ranged from 1545 (IQR: 853–2453) at T0 to 1710 (IQR: 960–2730) at T3 min/ week. Household (495–600 min/week) and light intensity (900–998 min/week) activities accrued the most minutes. Analyses showed a significant increase in total physical activity moderate-intensity to vigorous-intensity physical activity and work/commuting physical activity for all time points (T1–T3) compared with baseline (T0). Diagnosis, age, sex and body mass index had a significant effect on baseline total physical activity. Conclusion Physical activity is highly diverse among adults with physical disabilities and/or chronic diseases. Understanding this diversity in physical activity can help improve physical activity promotion activities

Transdiagnostic subgroups of cognitive impairment in early affective and psychotic illness

Abstract: Cognitively impaired and spared patient subgroups were identified in psychosis and depression, and in clinical high-risk for psychosis (CHR). Studies suggest differences in underlying brain structural and functional characteristics. It is unclear whether cognitive subgroups are transdiagnostic phenomena in early stages of psychotic and affective disorder which can be validated on the neural level. Patients with recent-onset psychosis (ROP; N = 140; female = 54), recent-onset depression (ROD; N = 130; female = 73), CHR (N = 128; female = 61) and healthy controls (HC; N = 270; female = 165) were recruited through the multi-site study PRONIA. The transdiagnostic sample and individual study groups were clustered into subgroups based on their performance in eight cognitive domains and characterized by gray matter volume (sMRI) and resting-state functional connectivity (rsFC) using support vector machine (SVM) classification. We identified an impaired subgroup (N ROP = 79, N ROD = 30, N CHR = 37) showing cognitive impairment in executive functioning, working memory, processing speed and verbal learning (all p < 0.001). A spared subgroup (N ROP = 61, N ROD = 100, N CHR = 91) performed comparable to HC. Single-disease subgroups indicated that cognitive impairment is stronger pronounced in impaired ROP compared to impaired ROD and CHR. Subgroups in ROP and ROD showed specific symptom- and functioning-patterns. rsFC showed superior accuracy compared to sMRI in differentiating transdiagnostic subgroups from HC (BACimpaired = 58.5%; BACspared = 61.7%, both: p < 0.01). Cognitive findings were validated in the PRONIA replication sample (N = 409). Individual cognitive subgroups in ROP, ROD and CHR are more informative than transdiagnostic subgroups as they map onto individual cognitive impairment and specific functioning- and symptom-patterns which show limited overlap in sMRI and rsFC. Clinical trial registry name: German Clinical Trials Register (DRKS). Clinical trial registry URL: https://www.drks.de/drks_web/ . Clinical trial registry number: DRKS00005042

Association between age of cannabis initiation and gray matter covariance networks in recent onset psychosis

Cannabis use during adolescence is associated with an increased risk of developing psychosis. According to a current hypothesis, this results from detrimental effects of early cannabis use on brain maturation during this vulnerable period. However, studies investigating the interaction between early cannabis use and brain structural alterations hitherto reported inconclusive findings. We investigated effects of age of cannabis initiation on psychosis using data from the multicentric Personalized Prognostic Tools for Early Psychosis Management (PRONIA) and the Cannabis Induced Psychosis (CIP) studies, yielding a total sample of 102 clinically-relevant cannabis users with recent onset psychosis. GM covariance underlies shared maturational processes. Therefore, we performed source-based morphometry analysis with spatial constraints on structural brain networks showing significant alterations in schizophrenia in a previous multisite study, thus testing associations of these networks with the age of cannabis initiation and with confounding factors. Earlier cannabis initiation was associated with more severe positive symptoms in our cohort. Greater gray matter volume (GMV) in the previously identified cerebellar schizophrenia-related network had a significant association with early cannabis use, independent of several possibly confounding factors. Moreover, GMV in the cerebellar network was associated with lower volume in another network previously associated with schizophrenia, comprising the insula, superior temporal, and inferior frontal gyrus. These findings are in line with previous investigations in healthy cannabis users, and suggest that early initiation of cannabis perturbs the developmental trajectory of certain structural brain networks in a manner imparting risk for psychosis later in life

Traces of trauma – a multivariate pattern analysis of childhood trauma, brain structure and clinical phenotypes

Background: Childhood trauma (CT) is a major yet elusive psychiatric risk factor, whose multidimensional conceptualization and heterogeneous effects on brain morphology might demand advanced mathematical modeling. Therefore, we present an unsupervised machine learning approach to characterize the clinical and neuroanatomical complexity of CT in a larger, transdiagnostic context. Methods: We used a multicenter European cohort of 1076 female and male individuals (discovery: n = 649; replication: n = 427) comprising young, minimally medicated patients with clinical high-risk states for psychosis; patients with recent-onset depression or psychosis; and healthy volunteers. We employed multivariate sparse partial least squares analysis to detect parsimonious associations between combinations of items from the Childhood Trauma Questionnaire and gray matter volume and tested their generalizability via nested cross-validation as well as via external validation. We investigated the associations of these CT signatures with state (functioning, depressivity, quality of life), trait (personality), and sociodemographic levels. Results: We discovered signatures of age-dependent sexual abuse and sex-dependent physical and sexual abuse, as well as emotional trauma, which projected onto gray matter volume patterns in prefronto-cerebellar, limbic, and sensory networks. These signatures were associated with predominantly impaired clinical state- and trait-level phenotypes, while pointing toward an interaction between sexual abuse, age, urbanicity, and education. We validated the clinical profiles for all three CT signatures in the replication sample. Conclusions: Our results suggest distinct multilayered associations between partially age- and sex-dependent patterns of CT, distributed neuroanatomical networks, and clinical profiles. Hence, our study highlights how machine learning approaches can shape future, more fine-grained CT research

A bacterial extracellular proteinase degrading silk fibroin

The bacterium Variovorax paradoxus, grown in a minimal medium in which silk broin represents the sole source of carbon and nitrogen, produces an extracellular protease that hydrolyzes broin as well as casein and, to a smaller extent, collagen and albumin. The optimal pH for activity was found to be in the acid range (optimum pH 5.8{6.4) and the enzyme activity was stimulated by the addition of divalent cations, either manganese or magnesium. Gel permeation chromatography and SDS-PAGE provided evidence that the native enzyme is a monomer with a Mr of ca. 21 kDa

Preservation treatments of aged papers by supercritical carbon dioxide

Innovative neutralizing and strengthening treatments for aged acidic paper have been developed, based on the use of supercritical carbon dioxide (CO2SCF) as solvent system. After treatment with the non toxic neutralizing agent CaCO3 in CO2SCF, acidic papers exhibited a pH increase of water extracts, the creation of an alkaline reserve and a decrease in the rate of artificial aging, while mechanical tensile properties properties of aged acidic papers improved after treatment with catechol both simply dissolved in ethanol or in CO2SCF in the presence of ethanol as co-solvent