Application of the new PRINTO classification criteria for juvenile idiopathic arthritis in a sample of Portuguese patients.

BACKGROUND: The International League of Associations for Rheumatology (ILAR) classification system for juvenile idiopathic arthritis (JIA) does not depict homogenous subgroups of disease. As to unify our language with the adult rheumatic diseases, the Pediatric Rheumatology International Trials Organization (PRINTO) is attempting to revise these criteria. OBJECTIVE: To reclassify a JIA sample according to the new provisional PRINTO subsets: systemic JIA (sJIA), RF-positive JIA (RF-JIA), early-onset ANA-positive JIA (eoANA-JIA), enthesitis/spondylitis-related JIA (ESR-JIA), "other JIA" and "unclassified JIA". METHODS: Retrospective study including JIA patients followed in a Pediatric Rheumatology Unit at a university hospital. Medical records were reviewed, and patients were reclassified as per the provisional PRINTO criteria. RESULTS: Of a total of 104 patients, 41 (39.4%) were reclassified as "other JIA", 36 (34.6%) as eoANA-JIA, 15 (14.4%) as ESR-JIA, 8 (7.7%) as sJIA and 4 (3.8%) as RF-JIA. More than 90% of the oligoarticular JIA were reclassified into either eoANA-JIA or "other JIA". Only one negative RF polyarticular JIA converted to RF-JIA due to the presence of a positive anti-citrulinated peptide antibody (ACPA). The psoriatic arthritis (PsA) subgroup disappeared into eoANA-JIA (25%), ESR-JIA (25%) or "other JIA" (50%). There were significant differences in age of onset, but not on the gender ratio or uveitis presence. Antinuclear antibody was more frequent in females (p=0.035) and younger patients (p<0.001). CONCLUSION: The number of affected joints and PsA features elapsed in favour of laboratory RF, ACPA and ANA traits. PsA and oligoarticular JIA were abolished. The "other JIA" entity is heterogenous and prevalent, claiming reformulation.

Anakinra and hepatotoxicity in pediatric rheumatology: a case series.

BACKGROUND: Anakinra is a recombinant interleukin-1 (IL-1) receptor antagonist used in systemic juvenile idiopathic arthritis (sJIA), refractory Kawasaki disease (KD) and cryopyrin-associated autoinflammatory syndrome (CAPS). Anakinra associated hepatotoxicity, while rare, has been described in several cases in daily practice. ​In this case series the authors describe three pediatric patients with this side effect in the setting of severe macrophage activation syndrome (MAS) in KD and sJIA. CASE PRESENTATION: The first patient was a 12-year-old boy who presented with fever, maculo-papular exanthema and polyarthralgia. Tonsillitis, distal limb induration and tender cervical lymph nodes were observed. Erythrocyte-sedimentation rate (ESR), C-reactive protein (CRP), ferritin (11,975 ng/mL), D-dimers (5,98 mg/L FEU) and soluble CD25 (3645 pg/mL) levels were elevated. Exclusion of sepsis / toxic shock syndrome warranted introduction of IV methylprednisolone and immunoglobulin (IG IV), with partial response. A MAS secondary to KD was assumed, and anakinra 2 mg/kg/day was introduced. Twenty days later he developed new-onset nausea and severe cyto-cholestasis, normalizing after 2 months of drug discontinuation. Posterior onset of polyarthritis and evanescent lead to a final diagnosis of sJIA. The second patient was a 2-year-old boy with a 10-day history of fevers, generalized rash, hepatosplenomegaly and strawberry tongue. Leucocytosis with neutrophilia and elevated CRP were observed. Initial treatment with IVIG in the setting of incomplete KD was ineffective. Mild anaemia, leukopenia and very high serum ferritin (maximum 26,128 ng/mL) ensued. Presumptive sJIA associated MAS was treated with IV methylprednisolone and anakinra 2 mg/kg/day, with prompt response. Four weeks later transaminitis was detected, and temporary anakinra suspension led to normalisation of laboratorial values. The third case related to a 4-year-old boy presenting with fever, maculopapular rash and cervical lymphadenopathy. CRP and ESR were elevated, and KD was diagnosed. IVIG and methylprednisolone were initiated with clinical worsening, warranting for anakinra introduction at 2 mg/kg/day. After three weeks, liver enzymes progressively elevated, resolving on 2 weeks of anakinra discontinuation. CONCLUSIONS: To the best of our knowledge, this is the first case series describing anakinra associated hepatotoxicity in pediatric patients with rheumatic diseases other than sJIA, bringing additional insight to therapeutic monitoring in patients undergoing this treatment.

Influence of the timing of biological treatment initiation on Juvenile Idiopathic Arthritis long-term outcomes.

BACKGROUND: Juvenile idiopathic arthritis (JIA) treatment is aimed at inducing remission to prevent joint destruction and disability. However, it is unclear what is the long-term impact on health-related outcomes of the timing of biological disease-modifying antirheumatic drug (bDMARD) initiation in JIA. Our aim was to evaluate the long-term impact of the time between JIA onset and the initiation of a bDMARD in achieving clinical remission, on physical disability and health-related quality of life (HRQoL). METHODS: Adult JIA patients registered in the Rheumatic Diseases Portuguese Register (Reuma.pt) and ever treated with bDMARD were included. Data regarding socio-demographic, JIA-related characteristics, disease activity, physical disability (HAQ-DI), HRQoL (SF-36), and treatments were collected at the last visit. Patients were divided into 3 groups (≤ 2 years, 2-5 years, or > 5 years), according to the time from disease onset to bDMARD initiation. Regression models were obtained considering remission on/off medication, HAQ-DI, SF-36, and joint surgeries as outcomes and time from disease onset to bDMARD start as an independent variable. RESULTS: Three hundred sixty-one adult JIA patients were evaluated, with a median disease duration of 20.3 years (IQR 12.1; 30.2). 40.4% had active disease, 35.1% were in remission on medication, and 24.4% were in drug-free remission; 71% reported some degree of physical disability. Starting a bDMARD > 5 years after disease onset decreased the chance of achieving remission off medication (OR 0.24; 95% CI 0.06, 0.92; p = 0.038). Patients who started a bDMARD after 5 years of disease onset had a higher HAQ and worse scores in the physical component, vitality, and social function domains of SF-36, and more joint surgeries when compared to an earlier start. CONCLUSION: Later initiation of bDMARDs in JIA is associated with a greater physical disability, worse HRQoL, and lower chance of drug-free remission in adulthood.

The role of soil temperature in mediterranean vineyards in a climate change context.

The wine sector faces important challenges related to sustainability issues and the impact of climate change. More frequent extreme climate conditions (high temperatures coupled with severe drought periods) have become a matter of concern for the wine sector of typically dry and warm regions, such as the Mediterranean European countries. Soil is a natural resource crucial to sustaining the equilibrium of ecosystems, economic growth and people's prosperity worldwide. In viticulture, soils have a great influence on crop performance (growth, yield and berry composition) and wine quality, as the soil is a central component of the terroir. Soil temperature (ST) affects multiple physical, chemical and biological processes occurring in the soil as well as in plants growing on it. Moreover, the impact of ST is stronger in row crops such as grapevine, since it favors soil exposition to radiation and favors evapotranspiration. The role of ST on crop performance remains poorly described, especially under more extreme climatic conditions. Therefore, a better understanding of the impact of ST in vineyards (vine plants, weeds, microbiota) can help to better manage and predict vineyards' performance, plant-soil relations and soil microbiome under more extreme climate conditions. In addition, soil and plant thermal data can be integrated into Decision Support Systems (DSS) to support vineyard management. In this paper, the role of ST in Mediterranean vineyards is reviewed namely in terms of its effect on vines' ecophysiological and agronomical performance and its relation with soil properties and soil management strategies. The potential use of imaging approaches, e.g. thermography, is discussed as an alternative or complementary tool to assess ST and vertical canopy temperature profiles/gradients in vineyards. Soil management strategies to mitigate the negative impact of climate change, optimize ST variation and crop thermal microclimate (leaf and berry) are proposed and discussed, with emphasis on Mediterranean systems.

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing.

BACKGROUND: Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes. However, autosomal dominant transmission has also been described in some families with incomplete penetrance. PHO usually starts in childhood or adolescence, presenting with digital clubbing, osteoarthropathy, and pachydermia. We described a complete form of the syndrome in a male patient with a homozygous variant in the SLCO2A1 gene (c.1259G > T). CASE PRESENTATION: A 20-year-old male was referred to our Pediatric Rheumatology Clinic with a five-year history of painful and swollen hands, knees, ankles and feet, prolonged morning stiffness and relief with non-steroidal antiinflammatory drugs. He also reported late onset facial acne and palmoplantar hyperhidrosis. Family history was irrelevant and parents were non-consanguineous. On clinical examination, he presented clubbing of the fingers and toes, moderate acne and marked facial skin thickening with prominent scalp folds. He had hand, knee, ankles and feet swelling. Laboratory investigations showed elevated inflammatory markers. Complete blood count, renal and hepatic function, bone biochemistry were normal, as well as immunological panel. Plain radiographs revealed soft tissue swelling, periosteal ossification and cortical thickening of the skull, phalanges, femur and toe acroosteolysis. Due to the absence of other clinical signs suggesting a secondary cause, we suspected PHO. A genetic study revealed a likely pathogenic variant, c.1259G > T(p.Cys420Phe), in homozygosity in the SLCO2A1 gene, thus confirming the diagnosis. The patient started oral naproxen with significant clinical improvement. CONCLUSIONS: PHO should be kept in the differential diagnosis of inflammatory arthritis affecting children, often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). To the best of our knowledge, this is the second genetically confirmed case of PHO in a Portuguese patient (first variant c.644 C > T), both made at our department.

Two Siblings With Recurrent Fevers: The Path to Mevalonate Kinase Deficiency Diagnosis.

Systemic autoinflammatory diseases (SAIDs) are a group of disorders that constitute a rare cause of recurrent fevers. Recurrent fevers are defined as periodic febrile episodes lasting from days to weeks, separated by symptom-free intervals of variable duration. They present multiple etiologies, representing a diagnostic challenge. Mevalonate kinase deficiency (MKD) is a genetic SAID, a rare hereditary recurrent fever syndrome (HRF) caused by pathogenic variants in the mevalonate kinase (MVK) gene. It is characterized by the early onset of periodic fever flares, frequently associated with joint, gastrointestinal, skin, and lymph node involvement. Although elevated serum immunoglobulin D (IgD) levels were previously considered an MKD's hallmark, normal values do not exclude it. High serum immunoglobulin A (IgA) is frequent. An acute-phase response and elevated urinary mevalonic acid (UAV) excretion during flares may aid in the diagnosis. Genetic testing is an essential tool to confirm the diagnosis. The authors report two siblings presenting with early infancy onset of recurrent febrile illness and characteristic associated symptoms, one of which was initially misdiagnosed with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. MKD diagnoses were only established at 12 and nine years old, respectively, after the identification of the same two MVKgene variants. The diagnosis in the eldest favored the earlier recognition of MKD in the youngest. Owing to its wide spectrum of manifestations, with many being nonspecific and/or shared with other more frequent entities, a significant proportion of MKD patients present a long delay until its final establishment. These cases illustrate the MKD diagnosis and management's difficulties, reinforcing the importance of a careful clinical history and HRF awareness for its prompt diagnosis and appropriate precocious referral.

The influence of river regulation on the affinity for nature and perceptions of local populations.

Rivers are powerful systems supporting human civilization, but despite the enormous dependence on rivers by humans, this does not stop them to assault rivers in the most varied ways. Such dependency determines the establishment of strong river flow-human relationships, and river degradation the prompting of health and non-tangible complications for humans. This work assesses how river regulation, interacting with sociodemographic characteristics, influences the affinity for nature and the perception of humans regarding its effects on river systems. Increased affinity for nature and clearer perceptions about the effects of river regulation improve emotive connection with nature and promote pro-environmental concerns towards a more sustainable water management. Two case studies were selected with different river regulation types (run-of-river and storage reservoir). In each one, the affinity for nature and social perceptions were assessed via telephone-assisted questionnaire surveys carried out in 2020 using 402 randomly selected numbers of local human communities living in its influence areas. Results showed that despite river regulation, communities remain connected to the river system with well-established flow-human relationships. Nonetheless, these relationships have changed due to socioeconomic and cultural changes over time. Significant differences were found in educational attainment and age regarding the affinity for nature. On the other hand, gender differs significantly regarding both the affinity for nature and how the river regulation affect perception, highlighting a gender gap motivated by social and cultural customs passed throughout generations. The lower education level of women and less frequent use of the river acts as a barrier to their perception of river ecosystems and the regulation effects. The affinity for nature and the perception of ecosystems changes by local populations were also significantly different according to the river regulation type, where residents near the run-of-river dam present less affinity for nature. Notwithstanding, the perceptions of local communities were in general in accordance with the scientific knowledge on rivers' condition. Finally, this work highlights the necessity for education through schools, local communities, municipalities and families, providing conditions for dedication and time to nature and promoting environmental knowledge through direct experience.

Predictive factors of relapse after methotrexate discontinuation in juvenile idiopathic arthritis patients with inactive disease.

OBJECTIVE: To identify predictive factors of relapse after discontinuation of Methotrexate (MTX) in Juvenile Idiopathic Arthritis (JIA) patients with inactive disease. METHODS: We conducted a prospective multicenter cohort study of patients diagnosed with JIA using real world data from the Portuguese national register database, Reuma.pt. Patients with JIA who have reached JADAS27 inactive disease and discontinued MTX before the age of 18 were evaluated. RESULTS: A total of 1470 patients with JIA were registered in Reuma.pt. Of the 119 bionaive patients who discontinued MTX due to inactive disease, 32.8% have relapsed. Median time of persistence (using the Kaplan-Meier method and log-rank tests) with inactive disease was significantly higher in patients with more than two years of remission before MTX discontinuation and in those who did not use NSAIDs at time of MTX discontinuation. In Cox regression analyses and after adjustment for age at diagnosis, MTX tapering and JIA category, the use of NSAIDs at the time of MTX discontinuation (HR, 1.98 95%CI 1.03-3.82) and remission time of less than two years before suspension (HR, 3.12 95%CI 1.35-7.13) remained associated with relapse. No association was found between JIA category or the regimen of MTX discontinuation and the risk of relapse. CONCLUSIONS: In this large cohort we found that the use of NSAIDs at the time of MTX discontinuation was associated with a two times higher likelihood of relapse. In addition, longer duration of remission before MTX withdrawal reduces the chance of relapse in bionaive JIA patients.

River ecosystem endangerment from climate change-driven regulated flow regimes.

Major threats of freshwater systems are river damming and habitat degradation, further amplified by climate change, another major driver of biodiversity loss. This study aims to understand the effects of climate change, and its repercussions on hydropower production, on the instream biota of a regulated river. Particularly, it aims to ascertain how mesohabitat availability downstream of hydropower plants changes due to modified flow regimes driven by climate change; how mesohabitat changes will influence the instream biota; and if instream biota changes will be similar within and between biological groups. We used a mesohabitat-level ecohydraulic approach with four biological elements - macrophytes, macroalgae, diatoms and macroinvertebrates - to encompass a holistic ecosystem perspective of the river system. The ecological preferences of the biological groups for specific mesohabitats were established by field survey. The mesohabitat availability in three expected climate change-driven flow regime scenarios was determined by hydrodynamic modeling. The biota abundance/cover was computed for the mesohabitat indicator species of each biological group. Results show that climate-changed flow regimes are characterized by a significant water shortage during summer months already for 2050. Accordingly, the regulated rivers' hydraulics are expected to change towards more homogeneous flow conditions where run habitats should prevail. As a result, the biological elements are expected to face abundance/cover modifications ranging from decreases of 76% up to 67% increase, depending on the biological element and indicator taxa. Diatoms seem to endure the greatest range of modifications while macrophytes the slightest (15% decrease to 38% increase). The greatest modifications would occur on decreasing abundance/cover responses. Such underlies an important risk to fluvial biodiversity in the future, indicting climate change as a significant threat to the fluvial system in regulated rivers.

Predictors of Mortality and Refracture in Patients Older Than 65 Years With a Proximal Femur Fracture.

OBJECTIVES: To evaluate potential predictors of subsequent fracture and increased mortality in a population 65 years or older who suffered a proximal femur fragility fracture. METHODS: This was a longitudinal study that included patients with a proximal femur fragility fracture, referred from the Orthopedics Inpatient Department to the Rheumatology Department's Fracture Liaison Service, from March 2015 to March 2017. RESULTS: Five hundred twenty-two patients were included, with a median age (IQR) of 84 years (interquartile range [IQR], 11 years), 79.7% (n = 416) female. Nine percent (n = 47) suffered a new fracture, with a median time to event of 298 days (IQR, 331 days). Cumulative probability without refracture at 12 months was 93% (95% confidence interval [CI], 90.2%-95.0%); 22.8% (n = 119) patients died, with median time to death of 126 days (IQR, 336 days). Cumulative survival probability at 12 months was 81.7 (95% CI, 77.9-84.8). Neurologic disease (hazard ratio [HR], 2.30; 95% CI, 0.97-5.50; p = 0.06) and chronic obstructive pulmonary disease (HR, 3.61; 95% CI, 1.20-10.9; p = 0.022) were both predictors of refracture. Age older than 80 years (HR, 1.54; 95% CI, 0.99-2.38; p = 0.052), higher degree of dependence (HR, 1.24;95% CI, 1.09-1.42; p = 0.001), male sex (HR, 1.55; 95% CI, 1.03-2.33; p = 0.034), femoral neck fracture (HR, 0.45; 95% CI, 0.24-0.88; p = 0.018), Charlson score (HR, 2.08; 95% CI, 1.17-3.69; p = 0.012), heart failure (HR, 2.44; 95% CI, 1.06-5.63; p = 0.037), hip bone mass density (HR, 3.99; 95% CI, 1.19-13.4; p = 0.025), hip T score (HR, 0.64; 95% CI, 0.44-0.93; p = 0.021), and ß-crosslaps (HR, 1.98; 95% CI, 1.02-3.84; p = 0.042) all predicted a higher mortality. CONCLUSIONS: Neurologic disease and chronic obstructive pulmonary disease may increase the risk of subsequent fracture after a hip fracture. Male sex, age, autonomy degree, femur bone mass density/T score, fracture type, Charlson score, diabetes mellitus, heart failure, and ß-crosslaps had significant impact on survival. The authors highlight ß-crosslaps as a potential serological marker of increased mortality in clinical practice.

Grupo de apoio/suporte como estratégia de cuidado aos usuários de drogas / Support / support group as care strategy for drug users / Grupo de apoyo / estrategia de apoyo como atención para usuarios de drogas

Objetivo: descrever encontros desenvolvidos com os usuários bem como a contribuição do grupo de apoio/suporte. Método: estudo descritivo com abordagem qualitativa com enfoque na pesquisa-ação, realizado Centro de Atenção Psicossocial de Álcool e outras Drogas localizado em município de médio porte da região norte do Estado do Ceará, Brasil. Resultados: participaram do estudo sete usuários cadastrados no serviço de saúde. Desenvolveu-se durante o período de janeiro e março de 2015, encontros de forma coletiva, nas dependências do serviço de saúde como também de maneira externa, com duração em média de duas horas. Da análise das informações, elaborou-se duas categorias: Descrevendo os encontros grupais com os usuários e Significados dos encontros grupais para os usuários. Conclusão: a abordagem grupal configura-se como importante estratégia de assistência aos usuários de drogas

Objective: to describe meetings developed with users as well as the contribution of the support group. Method: a descriptive study with a qualitative approach focusing on action research, conducted at the Psychosocial Care Center for Alcohol and other Drugs located in a medium-sized municipality in the northern region of the State of Ceará, Brazil. Results: seven users registered in the health service participated in the study. During the period of January and March 2015, meetings were held collectively, on the premises of the health service as well as externally, with an average duration of two hours. From the analysis of the information, two categories were elaborated: Describing group meetings with users and Meanings of group meetings for users. Conclusion: the group approach is an important assistance strategy for drug users

Objetivo: describir las reuniones desarrolladas con los usuarios, así como la contribución del grupo de apoyo. Método: un estudio descriptivo con un enfoque cualitativo centrado en la investigación de acción, llevado a cabo en el Centro de Atención Psicosocial para el Alcohol y otras Drogas ubicado en un municipio de tamaño mediano en la región norte del Estado de Ceará, Brasil. Resultados: siete usuarios registrados en el servicio de salud participaron en el estudio. Durante el período de enero y marzo de 2015, las reuniones se llevaron a cabo colectivamente, en las instalaciones del servicio de salud y externamente, con una duración promedio de dos horas. A partir del análisis de la información, se elaboraron dos categorías: Describir las reuniones grupales con los usuarios y los significados de las reuniones grupales para los usuarios. Conclusión: el enfoque grupal es una estrategia de asistencia importante para los usuarios de drogas

Kidney Function, Age, and Education as Contributors to Depression and Anxiety in Juvenile Systemic Lupus Erythematosus.

Juvenile systemic lupus erythematosus (JSLE) is diagnosed in children younger than 18 years of age. Depression and anxiety are common, but not well understood in JSLE. We investigated the clinical and psychological factors associated with the psychological manifestations of JSLE. Twenty-nine JSLE patients were recruited for the study. Patients completed surveys evaluating their psychological status and perceptions about their health. Medical records were used to obtain laboratory results. The JSLE patient population was compared with adult-onset SLE (ASLE) patients and unaffected controls. Kidney involvement was associated with depression in the JSLE patients. The BUN levels, BUN/creatinine ratio, and leukocyturia were all significantly associated with depressive symptoms. Multivariate analysis found that the BUN/creatinine ratio was the most predictive value for both depression and anxiety. Depressive symptoms in JSLE were less pronounced than in ASLE, although anxiety was not different. Age and education are likely to be protective against depression in the JSLE patients. These findings may indicate that symptomatology is an important indicator of whether the patient needs psychiatric care.

Health-related quality of life and disability in adults with juvenile idiopathic arthritis: comparison with adult-onset rheumatic diseases.

OBJECTIVE: To compare physical disability, mental health, fatigue and health-related quality of life (HRQoL) across juvenile idiopathic arthritis (JIA) categories in adulthood and between JIA and adult-onset rheumatic diseases. METHODS: Cross-sectional analysis nested in a cohort of adult patients with JIA registered in the Rheumatic Diseases Portuguese Register (Reuma.pt). Physical disability (Health Assessment Questionnaire-Disability Index), mental health symptoms (Hospital Anxiety and Depression Scale), fatigue (Functional Assessment of Chronic Illness Therapy-Fatigue Scale (FACIT-F)) and HRQoL (EuroQol-5D (EQ5D) and Short Form (SF-36)) were compared across JIA categories. Patients with polyarticular JIA and enthesis-related arthritis (ERA) JIA were compared respectively to patients with rheumatoid arthritis (RA) and spondyloarthritis (SpA), matched for gender and age, adjusted for disease duration and activity. RESULTS: 585 adult patients with JIA were included. Comparison across JIA categories showed that persistent oligoarthritis and patients with ERA reported a higher score in EQ5D and SF-36 physical component when compared with other JIA categories.Polyarticular JIA reported less disability and fatigue than patients with RA (median Health Assessment Questionnaire of 0.25 vs 0.63; p<0.001 and median FACIT-F score 42 vs 40 ; p=0.041). Polyarticular JIA had also better scores on EQ5D and all domains of SF-36, than patients with RA. Patients with ERA reported less depression and anxiety symptoms (0% vs 14.8%; p=0.003% and 9% vs 21.3%; p=0.002) and less fatigue symptoms (45 vs 41; p=0.01) than patients with SpA. CONCLUSION: Persistent oligoarticular JIA and ERA are the JIA categories in adulthood with better HRQoL. Overall, adult polyarticular and patients with ERA JIA have lower functional impairment and better quality-of-life than patients with RA and SpA.

Influence of river regulation and instream habitat on invertebrate assemblage' structure and function.

Dams modify geomorphology, water quantity, quality and timing of stream flows affecting ecosystem functioning and aquatic biota. In this study, we addressed the structural and functional macroinvertebrate community alterations in different instream mesohabitats of two Portuguese rivers impaired by dams. We sampled macroinvertebrates in riffles, runs and pools of river sites downstream of the dams (i.e. regulated; n = 24) and in sites without the influence of the dams (i.e. unregulated; n = 7), assessing a total of 64 mesohabitats, following late spring-early summer regular flows. We found a distinct taxonomic structure and trait composition of macroinvertebrate assemblages between regulated and unregulated flow sites, and also between mesohabitats in which the differences were more evident. When analysing each mesohabitat individually, the effect of flow regulation was detected only in run-type mesohabitats for both taxonomic and trait composition, leading us to infer that a selective macroinvertebrate assessment on run mesohabitats would be a valuable contribution to detect regulated flow effects on ecosystems impaired by dams. Additionally, there is evidence that respiration and locomotion traits could be effective tools to identify damming flow alterations. This study supports that the quality assessments of rivers impacted by dams could benefit from a sampling approach focused on run mesohabitats and the detection of some key traits, which would improve assessment accuracy.

Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. Legg-Calvé-Perthes disease (LGP) had been diagnosed at age 7 and required surgical treatment at age 12. Parents were healthy and non consanguineous; there was family history of pectus carinatum of maternal lineage. On examination the patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodactyly of the first and fifth fingers and hard painless swelling of all of the proximal interphalangeal joints; brachydactyly of the toes. Laboratory tests were unremarkable and radiographic studies revealed distinctive abnormalities of the hands (e.g., epiphyseal coning). This diagnosis was confirmed by gene sequencing, which identified in heterozygosity a pathogenic variant c.124G>T (p.Glu42Ter) in the exon 3 of the TRPS1 gene. The diagnosis of TRPS1 may be suspected upon identification of characteristic physical features, a compatible clinical history and imaging findings.

Improving river hydromorphological assessment through better integration of riparian vegetation: Scientific evidence and guidelines.

River hydromorphology has long been subjected to huge anthropogenic pressures with severe negative impacts on related ecosystems' functioning and water quality. Therefore, improving river hydromorphological conditions represents a priority task in sustainable river management and requires proper assessment tools. It is well known that riparian vegetation plays a crucial role in sustaining river hydromorphological conditions. However, it has been nearly neglected in most hydromorphological assessment protocols, including the European Water Framework Directive (WFD). This paper reviews and synthesizes the relevance of riparian vegetation for river hydromorphology, focusing on its contribution to streamflow and sediment regime conditions. We also examine how riparian vegetation is considered in the WFD and how it is included in national hydromorphological protocols currently in use. Our findings point to a temporal mismatch between the date when the WFD came into force and the emergence of scientific and technologic advances in riparian vegetation dynamism and bio-geomorphic modeling. To overcome this misalignment, we present promising approaches for the characterization and assessment of riparian vegetation, which include the identification of vegetation units and indicators at multiple scales to support management and restoration measures. We discuss the complexity of riparian vegetation assessment, particularly with respect to the establishment of river-type-based reference conditions and the monitoring and management targets, and propose some attributes that can serve as novel indicators of the naturalness vs. artificiality of riparian vegetation. We argue that the hydromorphological context of the WFD should be revisited and offer guidance to integrate riparian vegetation in river hydromorphological monitoring and assessment.