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3.
Healthcare (Basel) ; 12(5)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38470661

RESUMO

The Nine-Hole Peg Test (NHPT) is considered a "gold standard" for the measurement of manual dexterity. The aim of this study was the translation and culturally adapting the original version of the NHPT. MATERIALS AND METHODS: The adaptation was carried out following the standardized translation-retrotranslation guidelines and procedures referred to in the literature and in the International Test Commission (CIT). The final Spanish version of the NHPT (NHPT-E) was administered to 40 healthy adults. We evaluated its feasibility by means of a questionnaire elaborated according to Iraossi's checklist proposal for the pilot test process. RESULTS: Modifications of expression in the grammatical mode of the verbs were performed, as well as the adaptation of some terms used in the three sections of the original version of the test (General Information, Installation, and Application Instructions). In the pilot study, for 95% of the participants, the NHPT-E is a comfortable test to take, and, for 100% of the evaluators, the test includes all the necessary information, with clear instructions and interpretation of the results. CONCLUSIONS: The cross-cultural adaptation and pilot study enabled the development of a suitable and viable version of the NHPT-E for use in the Spanish population.

4.
Pediatr. aten. prim ; 26(101): 65-69, ene.-mar. 2024.
Artigo em Espanhol | IBECS | ID: ibc-231780

RESUMO

La parálisis facial plantea un diagnóstico diferencial amplio en Pediatría, sobre todo cuando se acompaña de sintomatología que orienta en contra de una parálisis de Bell, por lo que resulta imprescindible realizar una correcta anamnesis. La enfermedad de Lyme es una de las posibles causas de parálisis facial, habiendo sido poco descrita en niños en España. Presentamos el caso de un varón de 11 años con diagnóstico de parálisis facial asociada a infección por B. burgdorferi con evolución favorable tras tratamiento con doxiciclina. (AU)


Facial palsy poses a wide differential diagnosis in pediatrics, especially when it is accompanied by symptoms that make it doubtful whether Bell's palsy is present. It is essential to perform a correct anamnesis to rule out diagnoses that require early detection and treatment to improve the prognosis. Lyme disease (EL) is one of the possible causes of facial palsy, having been seldom described in children in Spain. We present the case of an 11-years-old male with diagnosis of facial palsy associated with B. burgdorferi infection with favorable evolution after treatment with doxycycline. (AU)


Assuntos
Humanos , Masculino , Criança , Doença de Lyme/diagnóstico , Doença de Lyme/tratamento farmacológico , Neuroborreliose de Lyme/diagnóstico , Neuroborreliose de Lyme/tratamento farmacológico , Paralisia Facial/diagnóstico , Paralisia Facial/tratamento farmacológico
5.
Chempluschem ; : e202300660, 2024 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-38369655

RESUMO

Sonochemistry is the use of ultrasonic waves in an aqueous medium, to generate acoustic cavitation. In this context, sonochemistry emerged as a focal point over the past few decades, starting as a manageable process such as a cleaning technique. Now, it is found in a wide range of applications across various chemical, physical, and biological processes, creating opportunities for analysis between these processes. Sonochemistry is a powerful and eco-friendly technique often called "green chemistry" for less energy use, toxic reagents, and residues generation. It is increasing the number of applications achieved through the ultrasonic irradiation (USI) method. Sonochemistry has been established as a sustainable and cost-effective alternative compared to traditional industrial methods. It promotes scientific and social well-being, offering non-destructive advantages, including rapid processes, improved process efficiency, enhanced product quality, and, in some cases, the retention of key product characteristics. This versatile technology has significantly contributed to the food industry, materials technology, environmental remediation, and biological research. This review is created with enthusiasm and focus on shedding light on the manifold applications of sonochemistry. It delves into this technique's evolution and current applications in cleaning, environmental remediation, microfluidic, biological, and medical fields. The purpose is to show the physicochemical effects and characteristics of acoustic cavitation in different processes across various fields and to demonstrate the extending application reach of sonochemistry. Also to provide insights into the prospects of this versatile technique and demonstrating that sonochemistry is an adapting system able to generate more efficient products or processes.

6.
Blood Purif ; 53(5): 405-417, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38382484

RESUMO

INTRODUCTION: The Anemia Control Model (ACM) is a certified medical device suggesting the optimal ESA and iron dosage for patients on hemodialysis. We sought to assess the effectiveness and safety of ACM in a large cohort of hemodialysis patients. METHODS: This is a retrospective study of dialysis patients treated in NephroCare centers between June 1, 2013 and December 31, 2019. We compared patients treated according to ACM suggestions and patients treated in clinics where ACM was not activated. We stratified patients belonging to the reference group by historical target achievement rates in their referral centers (tier 1: <70%; tier 2: 70-80%; tier 3: >80%). Groups were matched by propensity score. RESULTS: After matching, we obtained four groups with 85,512 patient-months each. ACM had 18% higher target achievement rate, 63% smaller inappropriate ESA administration rate, and 59% smaller severe anemia risk compared to Tier 1 centers (all p < 0.01). The corresponding risk ratios for ACM compared to Tier 2 centers were 1.08 (95% CI: 1.08-1.09), 0.49 (95% CI: 0.47-0.51), and 0.64 (95% CI: 0.61-0.68); for ACM compared to Tier 3 centers, 1.01 (95% CI: 1.01-1.02), 0.66 (95% CI: 0.63-0.69), and 0.94 (95% CI: 0.88-1.00), respectively. ACM was associated with statistically significant reductions in ESA dose administration. CONCLUSION: ACM was associated with increased hemoglobin target achievement rate, decreased inappropriate ESA usage and a decreased incidence of severe anemia among patients treated according to ACM suggestion.


Assuntos
Anemia , Eritropoetina , Hematínicos , Humanos , Diálise Renal/efeitos adversos , Hematínicos/uso terapêutico , Hematínicos/efeitos adversos , Estudos Retrospectivos , Anemia/tratamento farmacológico , Anemia/etiologia , Eritropoetina/uso terapêutico , Eritropoetina/efeitos adversos , Hemoglobinas/análise
7.
Artif Intell Med ; 143: 102622, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37673565

RESUMO

Civil registration and vital statistics systems capture birth and death events to compile vital statistics and to provide legal rights to citizens. Vital statistics are a key factor in promoting public health policies and the health of the population. Medical certification of cause of death is the preferred source of cause of death information. However, two thirds of all deaths worldwide are not captured in routine mortality information systems and their cause of death is unknown. Verbal autopsy is an interim solution for estimating the cause of death distribution at the population level in the absence of medical certification. A Verbal Autopsy (VA) consists of an interview with the relative or the caregiver of the deceased. The VA includes both Closed Questions (CQs) with structured answer options, and an Open Response (OR) consisting of a free narrative of the events expressed in natural language and without any pre-determined structure. There are a number of automated systems to analyze the CQs to obtain cause specific mortality fractions with limited performance. We hypothesize that the incorporation of the text provided by the OR might convey relevant information to discern the CoD. The experimental layout compares existing Computer Coding Verbal Autopsy methods such as Tariff 2.0 with other approaches well suited to the processing of structured inputs as is the case of the CQs. Next, alternative approaches based on language models are employed to analyze the OR. Finally, we propose a new method with a bi-modal input that combines the CQs and the OR. Empirical results corroborated that the CoD prediction capability of the Tariff 2.0 algorithm is outperformed by our method taking into account the valuable information conveyed by the OR. As an added value, with this work we made available the software to enable the reproducibility of the results attained with a version implemented in R to make the comparison with Tariff 2.0 evident.


Assuntos
Algoritmos , Humanos , Autopsia , Causas de Morte , Reprodutibilidade dos Testes
8.
Transpl Int ; 36: 11498, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37767527

RESUMO

The primary aim of this study was to describe regulations and practices concerning the family approach to discuss donation, specifically after the neurological determination of death, one of the most challenging steps in the donation pathway. A secondary objective was to assess the impact of legislation on consent rates for organ donation. The Council of Europe surveyed 39 member states about national regulations, practices, and consent rates; 34 replied. Opt-out legislation is present in 19, opt-in in 9 and a mixed system in six countries. An opt-out register is kept by 24 countries and an opt-in register by 18 countries, some keeping both. The mean consent rate was 81.2% of all family approaches. Most countries regulate how death using neurological criteria is confirmed (85.3%), while regulation of other aspects of the deceased donation pathway varies: the timing of informing the family about brain death (47.1%) and organ donation (58.8%), the profile of professional who discusses both topics with the family (52.9% and 64.7%, respectively) and the withdrawal of treatment after brain death (47.1%). We also noted a mismatch between what regulations state and what is done in practice in most countries. We suggest possible reasons for this disparity.


Assuntos
Transplante de Órgãos , Obtenção de Tecidos e Órgãos , Humanos , Morte Encefálica , Doadores de Tecidos , Europa (Continente)
9.
Patient Educ Couns ; 117: 107985, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37734250

RESUMO

OBJECTIVE: To explore the perceptions of institutionalised older people about the professionals and institutions regarding exercise programs in long-term care institutions DESIGN, SETTING, AND PARTICIPANTS: A qualitative study was carried out using focus group discussions. Forty-seven institutionalised participants (≥ 65 years old) with a score of > 23 in the Mini-Mental State Examination (MMSE) were recruited. RESULTS: Most participants believed that the frequency of the exercise sessions could be increased by enhancing the number of staff assisting them and by adapting the facilities to their needs. They also suggested using outdoor spaces and avoiding childish activities and treatment. Participants' beliefs were grouped into three major themes (i) Perceptions about the health professionals delivering the exercise programs (ii) Perceptions about the institution or centre regarding exercise programs; (iii) Perceptions about the exercise programs. CONCLUSION: Participants proposed certain changes that could take place in the institutions to promote engagement with exercise programs: tailored exercise programs, avoiding puerile treatment, increasing the number of staff members, and the creation of well-equipped spaces to perform the exercise. PRACTICAL IMPLICATIONS: Professionals should spend time designing tailored exercise programs and avoid puerile treatment. Institutions must review the need for spaces and the personnel assigned.


Assuntos
Exercício Físico , Assistência de Longa Duração , Humanos , Idoso , Idoso de 80 Anos ou mais , Pesquisa Qualitativa , Grupos Focais , Terapia por Exercício
10.
Endocrinol Diabetes Nutr (Engl Ed) ; 70(5): 313-318, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37210269

RESUMO

OBJECTIVES: To analyze the age at which treatment with growth hormone (GH) is started in the different indications approved in our country, as well as to assess the response to it and detect points of improvement. MATERIAL AND METHODS: A descriptive, observational and retrospective study of pediatric patients receiving GH treatment in December 2020 and monitored in the pediatric Endocrinology Unit of a tertiary care hospital. RESULTS: A total of 111 patients (52 females) were included in the study. The mean age at the start of treatment was 6.6 years old, being delayed in all diagnostic groups with respect to what is approved for each indication. The indication for which they most frequently received treatment was GH deficiency (n = 60, 54%). In this diagnostic group, there is a predominance of males (39 boys vs 21 girls, and a significantly greater increase in height z score (greater height SDS) is observed in those with early start of treatment compared to those who start late (greaterheight SDS 0.93 vs 0.6; P < .05). All diagnostic groups presented a greater height SDS and height velocity. No adverse effects were observed in any patient. CONCLUSION: GH treatment is effective and safe for the approved indications. The age of initiation of treatment is a point to improve in all indications, especially in SGA patients. For this, good coordination between primary care pediatricians and pediatric endocrinologists is essential, as well as specific training to identify early signs of different pathologies.


Assuntos
Estatura , Hormônio do Crescimento Humano , Masculino , Feminino , Humanos , Criança , Estudos Retrospectivos , Hormônio do Crescimento Humano/uso terapêutico , Hormônio do Crescimento , Transtornos do Crescimento/tratamento farmacológico
11.
Biol Psychiatry ; 93(11): 966-975, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-36958999

RESUMO

BACKGROUND: Astrocytes control synaptic activity by modulating perisynaptic concentrations of ions and neurotransmitters including dopamine (DA) and, as such, could be involved in the modulating aspects of mammalian behavior. METHODS: We produced a conditional deletion of the vesicular monoamine transporter 2 (VMAT2) specifically in astrocytes (aVMTA2cKO mice) and studied the effects of the lack of VMAT2 in prefrontal cortex (PFC) astrocytes on the regulation of DA levels, PFC circuit functions, and behavioral processes. RESULTS: We found a significant reduction of medial PFC (mPFC) DA levels and excessive grooming and compulsive repetitive behaviors in aVMAT2cKO mice. The mice also developed a synaptic pathology, expressed through increased relative AMPA versus NMDA receptor currents in synapses of the dorsal striatum receiving inputs from the mPFC. Importantly, behavioral and synaptic phenotypes were rescued by re-expression of mPFC VMAT2 and L-DOPA treatment, showing that the deficits were driven by mPFC astrocytes that are critically involved in developmental DA homeostasis. By analyzing human tissue samples, we found that VMAT2 is expressed in human PFC astrocytes, corroborating the potential translational relevance of our observations in mice. CONCLUSIONS: Our study shows that impairment of the astrocytic control of DA in the mPFC leads to symptoms resembling obsessive-compulsive spectrum disorders such as trichotillomania and has a profound impact on circuit function and behaviors.


Assuntos
Astrócitos , Dopamina , Camundongos , Animais , Humanos , Astrócitos/fisiologia , Asseio Animal , Sinapses/fisiologia , Córtex Pré-Frontal/fisiologia , Mamíferos
12.
Medicina (Kaunas) ; 59(2)2023 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-36837516

RESUMO

Background and Objectives: The diaphragm, the lumbar multifidus muscles, and the thoracolumbar fascia (TLF) execute an important role in the stability of the lumbar spine and their morphology has been modified in subjects with non-specific low back pain (NS-LBP). While it is true that three structures correlate anatomically, the possible functional correlation between them has not been investigated previously in healthy subjects nor in subjects with NS-LBP. The aim of the present study was to examine this functional nexus by means of a comparison based on ultrasonographic parameters of the diaphragm, the lumbar multifidus muscles, and the TLF in subjects with and without NS-LBP. Materials and Methods: A sample of 54 (23 NS-LBP and 31 healthy) subjects were included in the study. The thickness and diaphragmatic excursion at tidal volume (TV) and force volume (FV), the lumbar multifidus muscles thickness at contraction and at rest, and the TLF thickness were evaluated using rehabilitative ultrasound imaging (RUSI) by B-mode and M-mode ultrasonography. The diaphragm thickening capacity was also calculated by thickening fraction (TF) at tidal volume and force volume. Results: There were no significant differences recorded between the activation of the diaphragm and the activation of the lumbar multifidus muscles and TLF for each variable, within both groups. However, there were significant differences recorded between both groups in diaphragm thickness and diaphragm thickening capacity at tidal volume and force volume. Conclusions: Diaphragmatic activation had no functional correlation with the activation of lumbar multifidus muscles and TLF for both groups. Nevertheless, subjects with NS-LBP showed a reduced diaphragm thickness and a lower diaphragm thickening capacity at tidal volume and force volume, compared to healthy subjects.


Assuntos
Dor Lombar , Humanos , Músculos Paraespinais/anatomia & histologia , Músculos Paraespinais/diagnóstico por imagem , Projetos Piloto , Diafragma , Ultrassonografia , Fáscia
13.
Blood Cancer J ; 13(1): 8, 2023 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-36599843

RESUMO

The long-term clinical efficacy of SARS-CoV-2 vaccines according to antibody response in immunosuppressed patients such as hematological patients has been little explored. A prospective multicenter registry-based cohort study conducted from December 2020 to July 2022 by the Spanish Transplant and Cell Therapy group, was used to analyze the relationship of antibody response over time after full vaccination (at 3-6 weeks, 3, 6 and 12 months) (2 doses) and of booster doses with breakthrough SARS-CoV-2 infection in 1551 patients with hematological disorders. At a median follow-up of 388 days after complete immunization, 266 out of 1551 (17%) developed breakthrough SARS-CoV-2 infection at median of 86 days (range 7-391) after full vaccination. The cumulative incidence was 18% [95% confidence interval (C.I.), 16-20%]. Multivariate analysis identified higher incidence in chronic lymphocytic leukemia patients (29%) and with the use of corticosteroids (24.5%), whereas female sex (15.5%) and more than 1 year after last therapy (14%) were associated with a lower incidence (p < 0.05 for all comparisons). Median antibody titers at different time points were significantly lower in breakthrough cases than in non-cases. A serological titer cut-off of 250 BAU/mL was predictive of breakthrough infection and its severity. SARS-CoV-2 infection-related mortality was encouragingly low (1.9%) in our series. Our study describes the incidence of and risk factors for COVID-19 breakthrough infections during the initial vaccination and booster doses in the 2021 to mid-2022 period. The level of antibody titers at any time after 2-dose vaccination is strongly linked with protection against both breakthrough infection and severe disease, even with the Omicron SARS-CoV-2 variant.


Assuntos
COVID-19 , Humanos , Feminino , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19 , SARS-CoV-2 , Estudos de Coortes , Estudos Prospectivos
14.
Scand J Occup Ther ; 30(4): 444-451, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36379230

RESUMO

BACKGROUND: Occupational balance is a central aspect in occupational therapy. Awareness of occupational balance/imbalance among occupational therapists could influence the orientation of their professional interventions. OBJECTIVE: To describe and compare the occupational balance status of occupational therapists working in Spain. MATERIAL AND METHODS: Cross-sectional descriptive study using an online questionnaire. Participants were occupational therapists working in Spain who answered a questionnaire including 22 questions on the sociodemographic and employment data and the Spanish version of the Occupational Balance Questionnaire (OBQ-E) ranging 0-65 where higher ratings equal better occupational balance. RESULTS: A total of 648 currently working occupational therapists participated. Mostly women, with median age of 32 years, without partner, children, or dependents. The median OBQ-E was 37 (IQR = 27; 45). Statistically significant differences were found between the medians of participants varying in the categories 'hired as an occupational therapist', weekly work hours, and population working with children and adults. CONCLUSIONS AND SIGNIFICANCE: Spanish occupational therapists presented a moderate occupational balance that varied between subgroups. Professional recognition, working hours, and the population they attend are aspects that influence their occupational balance. Knowledge of occupational therapists' occupational balance could contribute to the development of policies aimed at promoting it.


Assuntos
Terapeutas Ocupacionais , Terapia Ocupacional , Adulto , Criança , Humanos , Feminino , Masculino , Estudos Transversais , Emprego , Inquéritos e Questionários
16.
Arch. argent. pediatr ; 120(6): e268-e271, dic. 2022. tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1399717

RESUMO

El diagnóstico del síndrome de Alport supone un reto en la edadpediátrica, debido a la ausencia de fenotipos clínicos esperados de la enfermedad, su clásica caracterización de entidad rara y la práctica muy restringida de biopsias renales con análisis rutinario de la muestra por microscopía electrónica durante la infancia. Se presentan las características clínicas y genéticas de 6 pacientes pediátricos (4 mujeres) diagnosticados de síndromede Alport en dos centros hospitalarios entre 2018 y 2021. Todos los pacientes presentaron un debut clínico claramente diferente y ninguno presentó complicaciones auditivas nioftalmológicas. La mitad carecía de antecedentes familiares de enfermedad renal crónica. Ninguna biopsia renal realizada confirmó el diagnóstico. Todos los pacientes fueron confirmadosgenéticamente y fueron el caso índice del estudio familiar. Esta serie ilustra la presencia de fenotipos clínicos inesperados en el síndrome de Alport y refleja la necesidad de incorporar el estudio genético para su diagnóstico.


The diagnosis of Alport syndrome is a challenge in the pediatric age, due to the absence of expected clinical phenotypes of the disease, its classic characterization of a rare disease and the very restricted practice of renal biopsies with routine analysis of the sample by electron microscopy during infancy. The clinical and genetic characteristics of 6 pediatric patients (4 women) diagnosed with Alport syndrome in two hospital centers between 2018 and 2021 are reported. All patients presented a clearly different clinical debut and none presented auditory or ophthalmological complications. Half had no family history of chronic kidney disease. No kidney biopsy performed confirmed the diagnosis. All patients were genetically confirmed and were the index case in the family study. This series illustrates the presence of unexpected clinical phenotypes in Alport syndrome and reflects the need for the incorporation of the genetic study for its diagnosis.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Nefrite Hereditária/complicações , Nefrite Hereditária/diagnóstico , Nefrite Hereditária/genética , Fenótipo , Testes Genéticos , Anamnese
17.
Ann Med ; 54(1): 3211-3218, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36368922

RESUMO

BACKGROUND: The Occupational Balance Questionnaire (OBQ) is an instrument that assesses occupational balance (OB). It has been transculturality adapted and validated in different countries, showing adequate psychometric properties. To date, no general population-based cut-off points for OB have been developed. OBJECTIVE: To assess the psychometric proprieties of the Spanish version OBQ (OBQ-E) and to estimate reference norms and the cut-off for OBQ-E in a representative sample of Spanish adults. MATERIALS AND METHODS: A total of 797 adults were included in this validity study. Internal consistency, intra and test-retest reliability of OBQ-E were examined. To obtain the convergent validity and the divergent validity, the Satisfaction with Life Scale (SLS) and the Hospital Anxiety and Depression Scale (HAD) were used respectively, compared with OBQ-E. To determine extreme and moderate disturbed OB stratified by age, sex, and educational level were used the 5 and 15% percentiles of OBQ-E. RESULTS: The OBQ-E showed good internal consistency (α-Cronbach = 0.87), intraclass reliability (ICC = 0.87), and test-retest reliability (rho = 0.83). Convergent (SLS) and divergent (HAD) validity were moderate (rho = 0.39 and rho = -0.46, respectively). The lowest extreme disturbed OB cut-off point in men (17.2) and in women (24) appeared at the primary education level, under 40 years of age (men) and 40-65 years of age (women). CONCLUSIONS: The OBQ-E presents adequate psychometric properties, and its normative data can be used as a reference to assess and monitor the occupational balance in the general Spanish population.KEY MESSAGESThe 'Occupational Balance Questionnaire' (OBQ), stands out as a specific measure of the concept of Occupational Balance, considered as satisfaction with the number and variation of occupations in which the person participates.The OBQ is a short and simple instrument that can be a useful tool for use in population-based and epidemiological studies to monitor OB and explore the associated factors or implications of disturbed OB.The Spanish version of the OBQ (OBQ-E) seems to be a reliable and valid questionnaire to assess the perception of balance between occupations, related to health and well-being in the Spanish adult population.


Assuntos
Psicometria , Adulto , Masculino , Feminino , Humanos , Reprodutibilidade dos Testes , Inquéritos e Questionários
18.
Arch Argent Pediatr ; 120(6): e268-e271, 2022 12.
Artigo em Espanhol | MEDLINE | ID: mdl-36374064

RESUMO

The diagnosis of Alport syndrome is a challenge in the pediatric age, due to the absence of expected clinical phenotypes of the disease, its classic characterization of a rare disease and the very restricted practice of renal biopsies with routine analysis of the sample by electron microscopy during infancy. The clinical and genetic characteristics of 6 pediatric patients (4 women) diagnosed with Alport syndrome in two hospital centers between 2018 and 2021 are reported. All patients presented a clearly different clinical debut and none presented auditory or ophthalmological complications. Half had no family history of chronic kidney disease. No kidney biopsy performed confirmed the diagnosis. All patients were genetically confirmed and were the index case in the family study. This series illustrates the presence of unexpected clinical phenotypes in Alport syndrome and reflects the need for the incorporation of the genetic study for its diagnosis.


El diagnóstico del síndrome de Alport supone un reto en la edad pediátrica, debido a la ausencia de fenotipos clínicos esperados de la enfermedad, su clásica caracterización de entidad rara y la práctica muy restringida de biopsias renales con análisis rutinario de la muestra por microscopía electrónica durante la infancia. Se presentan las características clínicas y genéticas de 6 pacientes pediátricos (4 mujeres) diagnosticados de síndrome de Alport en dos centros hospitalarios entre 2018 y 2021. Todos los pacientes presentaron un debut clínico claramente diferente y ninguno presentó complicaciones auditivas ni oftalmológicas. La mitad carecía de antecedentes familiares de enfermedad renal crónica. Ninguna biopsia renal realizada confirmó el diagnóstico. Todos los pacientes fueron confirmados genéticamente y fueron el caso índice del estudio familiar. Esta serie ilustra la presencia de fenotipos clínicos inesperados en el síndrome de Alport y refleja la necesidad de incorporar el estudio genético para su diagnóstico.


Assuntos
Nefrite Hereditária , Feminino , Humanos , Nefrite Hereditária/diagnóstico , Nefrite Hereditária/genética , Nefrite Hereditária/complicações , Testes Genéticos , Fenótipo , Anamnese
20.
Diagnostics (Basel) ; 12(10)2022 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-36292219

RESUMO

One of the advances in physiotherapy in recent years is the exploration and treatment by ultrasound imaging. This technique makes it possible to study the relationship between the musculature of the anterolateral wall of the abdomino-pelvic cavity, the pelvic floor muscles and the diaphragm muscle, among others, and thus understand their implication in non-specific low back pain (LBP) in pathological subjects regarding healthy subjects. OBJECTIVE: To evaluate by RUSI (rehabilitative ultrasound imaging) the muscular thickness at rest of the abdominal wall, the excursion of the pelvic floor and the respiratory diaphragm, as well as to study their activity. METHODOLOGY: Two groups of 46 subjects each were established. The variables studied were: non-specific low back pain, thickness and excursion after tidal and forced breathing, pelvic floor (PF) excursion in a contraction and thickness of the external oblique (EO), internal oblique (IO) and transverse (TA) at rest. DESIGN: Cross-sectional observational study. RESULTS: Good-to-excellent reliability for measurements of diaphragm thickness at both tidal volume (TV) (inspiration: 0.763, expiration: 0.788) and expiration at forced volume (FV) (0.763), and good reliability for inspiration at FV (0.631). A correlation was found between the EO muscle and PF musculature with respect to diaphragmatic thickness at TV, inspiration and expiration, and inspiration at FV, in addition to finding significant differences in all these variables in subjects with LBP. CONCLUSION: Subjects with LBP have less thickness at rest in the OE muscle, less excursion of the pelvic diaphragm, less diaphragmatic thickness at TV, in inspiration and expiration, and in inspiration to FV.

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