ABSTRACT
OBJECTIVE: To compare the waist-to-height ratio (WHtR) agreement between synthetic data and the Smart Computerized Anthropometric NavigatioN and Evaluation Resource (SCANNER) software package. METHODS: One hundred and ten 3D digital humans (55 for each sex) were created to obtain synthetic values. WHtR was obtained through the waist circumference and height division, both in centimeters. These data were programmed and obtained directly from the synthetic models. SCANNER v0.01 was coded by the researchers using Matlab. Differences between the objective WHtR and the one the SCANNER software package estimated were quantified using standard errors, Spearman's correlation and the Bland-Altman plot. RESULTS: Using the Spearman correlation, an agreement level of 0.982 was identified. Using the Bland-Altman plot, the agreement level was high, with a Rho value of 0.983 (95% CI: 0.977-0.988). Finally, when the standard errors were quantified, there was an overall error (between the synthetic data created and the computed one) of 0.49%, being higher in men (0.81%) than in women (0.18%). CONCLUSIONS: The SCANNER software package is a straightforward tool that could facilitate the estimation of WHtR in distance participants or patients.
ABSTRACT
Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witteveen-Kolk syndrome (WITKOS, OMIM #613406) associated with 15q24 microdeletions encompassing SIN3A. Whether hypogonadotropic hypogonadism is due to haploinsufficiency of SIN3A or any of the other eight genes present in 15q24 is not known. We report the case of a female patient with delayed puberty associated with intellectual disability, behavior problems, dysmorphic facial features, and short stature, at the age of 14 years. Clinical, laboratory, and imaging assessments confirmed the diagnosis of Kallmann syndrome. Whole-exome sequencing identified a novel heterozygous frameshift variant, NM_001145358.2:c.3045_3046dup, NP_001138830.1:p.(Ile1016Argfs*6) in SIN3A, classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG/AMP) criteria. Reverse phenotyping led to the clinical diagnosis of WITKOS. No other variant was found in the 96 genes potentially related to hypogonadotropic hypogonadism. The analysis of the other contiguous seven genes to SIN3A in 15q24 did not reveal any clinically relevant variant. In conclusion, these findings point to SIN3A as the gene in 15q24 related to the reproductive phenotype in patients with overlapping WITKOS and Kallmann syndrome.
ABSTRACT
Moebius syndrome (MBS) is a congenital cranial dysinnervation disorder (CCDD) characterized by a bilateral palsy of abducens and facial cranial nerves, which may coexist with other cranial nerves palsies, mostly those found in the dorsal pons and medulla oblongata. MBS is considered a "rare" disease, occurring in only 1:50,000 to 1:500,000 live births, with no gender predominance. Three independent theories have been described to define its etiology: the vascular theory, which talks about a transient blood flow disruption; the genetic theory, which takes place due to mutations related to the facial motor nucleus neurodevelopment; and last, the teratogenic theory, associated with the consumption of agents such as misoprostol during the first trimester of pregnancy. Since the literature has suggested the existence of these theories independently, this review proposes establishing a theory by matching the MBS molecular bases. This review aims to associate the three etiopathogenic theories at a molecular level, thus submitting a combined postulation. MBS is most likely an underdiagnosed disease due to its low prevalence and challenging diagnosis. Researching other elements that may play a key role in the pathogenesis is essential. It is common to assume the difficulty that patients with MBS have in leading an everyday social life. Research by means of PubMed and Google Scholar databases was carried out, same in which 94 articles were collected by using keywords with the likes of "Moebius syndrome," "PLXND1 mutations," "REV3L mutations," "vascular disruption AND teratogens," and "congenital facial nerve palsy." No exclusion criteria were applied.
Subject(s)
Facial Paralysis , Mobius Syndrome , Humans , Mobius Syndrome/genetics , Mobius Syndrome/diagnosis , Teratogens/toxicity , Facial Nerve , Mutation , DNA-Directed DNA Polymerase/genetics , DNA-Binding Proteins/geneticsABSTRACT
La biopsia en carcinoma escamoso de orofaringe es un paso fundamental para su diagnóstico, por lo que es relevante conocer los diferentes tipos de ésta. Actualmente, se reconocen 4 tipos de biopsia en este tipo de carcinoma, cada uno de las cuales presentan indicaciones específicas: Biopsia incisional, excisional, punción con aguja fina (PAF) y biopsia liquida. La más frecuente y recomendada es la biopsia incisional por su rapidez y poca morbilidad asociada. Tanto la biopsia excisional como la PAF se reservan para casos de metástasis cervical de primario desconocido dependiendo de la etapa del análisis del paciente en particular. Finalmente, existe un fuerte desarrollo de la biopsia liquida, especialmente mediante el estudio del biomarcador ctHPV-DNA, el cual al ser un marcador sensible y específico para este tipo de carcinoma puede cambiar el paradigma del diagnóstico en un futuro cercano.
Oropharyngeal squamous cell carcinoma biopsy is a fundamental step in the diagnosis; therefore, it is relevant to know its different types. Currently, four types of biopsy are recognized for this type of carcinoma, each of which has specific indications: incisional biopsy, excisional biopsy, fine needle aspiration (FNA), and liquid biopsy. The most frequent and recommended procedure is incisional biopsy, because of its speed and low associated morbidity. Both excisional biopsy and FNA are reserved for cases of cervical metastasis of unknown primary depending on the stage of analysis of the particular patient. Finally, there is a strong development in liquid biopsy, especially through the study of the ctHPV-DNA biomarker, which is a sensitive and specific marker for this type of carcinoma, and may change the diagnostic paradigm in the near future.
ABSTRACT
INTRODUCTION: Assessment of the hypothalamic-pituitary-adrenal (HPA) axis is necessary after prolonged glucocorticoid therapy withdrawal. Salivary cortisol reflects 65% of the free circulating cortisol fraction. Saliva collection is non-invasive and child friendly. OBJECTIVE: We aimed to evaluate the diagnostic accuracy of morning salivary cortisol (mSAF) to determine HPA recovery after prolonged corticosteroid therapy in children. METHODS: We conducted a prospective, validation study in 171 paediatric patients (mean ± SD age: 13.0 ± 4.4 years) who received glucocorticoids for >4 weeks (median and interquartile range: 11 [7-14] months) and were referred for therapy withdrawal. Serum and saliva samples were collected between 8 and 9 a.m. on the same day. Cortisol was measured by an electrochemiluminescence immunoassay (ECLIA) 48 h after cessation of glucocorticoid therapy. Serum cortisol ≥193 nmol/L was used as the reference cut-off value for HPA recovery after glucocorticoid withdrawal and mSAF as the index test. RESULTS: The cut-off concentration obtained by ROC for mSAF was ≥5.0 nmol/L. True positive and true negative results were observed in 85/171 and 40/171 children, respectively. The false-positive rate was low (3/171, 1.7%); however, false-negative results were observed in 43/171 (25%) children. The main ROC results (95% CI) were area under curve: 0.98 (0.96-0.99), sensitivity: 0.66 (0.57-0.75), specificity: 0.93 (0.81-0.99), positive predictive value: 0.97 (0.90-0.99), negative predictive value: 0.48 (0.37-0.59), LR+: 9.5, and diagnostic accuracy: 73.1%. CONCLUSION: The present study supports that mSAF ≥5.0 nmol/L by ECLIA is a non-invasive biomarker for the assessment of HPA recovery after prolonged glucocorticoid therapy in paediatric patients, with a positive predictive value of 97%. This proposed cut-off should be further validated using gold standard techniques for steroid quantification such as liquid chromatography-tandem mass spectrometry.
Subject(s)
Glucocorticoids , Hydrocortisone , Humans , Child , Adolescent , Hydrocortisone/analysis , Prospective Studies , Hypothalamo-Hypophyseal System , Pituitary-Adrenal System , Saliva/chemistryABSTRACT
OBJECTIVE: Mental health problems are increasing in Spain, and those related to drug use are a preventable aspect of public health. In Spain there are few studies on the incidence and characteristics of acute psychosis due to illegal drug use, especially at national and multicenter level, reason that motivated this paper. METHODS: A prospective multicentre study was carried out in eleven hospital Emergency Departments in Spain, lasting twenty-four months (REDUrHE Registry). Patients with acute psychosis were compared with those with organic pathology, analysing demographic aspects, drugs involved, associated clinical manifestations and evolution Quantitative variables were compared using Student's t-test and qualitative variables were compared using the chi-squared test (or Fisher's exact test as appropriate) and the magnitude of the association with the presence of psychosis using logistic regression. A p-value of less than 0.05 was considered statistically significant or if the 95%CI of the OR excluded the value 1. RESULTS: Of the 4,487 patients in the registry, 9.5% presented acute psychosis, with a median age of thirty-two years and 79% male. The main clinical features were agitation (53%, p=0.001), hallucinations (43.2%, p=0.001) and anxiety (40%, p=0.00). Psychosis was more frequent with cannabis (57.7%), cocaine (42%) and amphetamines and derivatives (26.4%), although in the analysis adjusted for co-drug use (39.5%), or in association with ethyl alcohol (57.7%), it was only statistically significant for cannabis (p=0.0). Patients with psychosis required more hospital admissions (38.1% vs. 10%, p=0.001), mainly in psychiatric units (34.1% vs. 4.2%, p=0.001), with hardly any intensive care unit admissions (0.4% vs. 2.1%, p=0.01). ED stay was high (29.3±73.8 hours vs 10.5±58.8 hours, p=0.001). CONCLUSIONS: In Spain, cannabis is the drug most associated with psychosis. This clinical condition produces more hospital admissions, although with a low risk at an organic level.
OBJETIVO: Los problemas de salud mental van en aumento en España, siendo los relacionados con el consumo de drogas una faceta prevenible en el ámbito de la Salud Pública. En España existen pocos estudios sobre la incidencia y características de la psicosis aguda por consumo de drogas ilegales, sobre todo de ámbito nacional y multicéntrico, razón que motivó este trabajo. METODOS: Se realizó un estudio multicéntrico prospectivo, de veinticuatro meses de duración, en once servicios de Urgencias hospitalarias de España (Registro REDUrHE). Se compararon los pacientes con psicosis aguda respecto a los que presentaban patología orgánica, analizando aspectos demográficos, drogas involucradas, clínica asociada y evolución. Las variables cuantitativas se compararon mediante la t de Student y cualitativas con la prueba ji al cuadrado (o el test exacto de Fisher según procediera) y la magnitud de la asociación con la presencia de psicosis mediante regresión logística. Se consideró estadísticamente significativo un valor de p menor de 0,05 o si el IC95% de la OR excluía el valor 1. RESULTADOS: De los 4.487 pacientes del registro, el 9,5% presentó psicosis aguda, con una mediana de edad de treinta y dos años y un 79% de varones. La clínica principal consistió en agitación (53%, p=0,001), alucinaciones (43,2%, p=0,001) y ansiedad (40%, p=0,00). La psicosis fue más frecuente con el consumo de cannabis (57,7%), de cocaína (42%) y de anfetaminas y derivados (26,4%), aunque en el análisis ajustado por coingesta de varias drogas (39,5%), o asociado a alcohol etílico (57,7%), sólo resultó estadísticamente significativo para el cannabis (p=0,0). Los pacientes con psicosis precisaron más ingreso hospitalario (38,1% frente a 10%, p=0,001), fundamentalmente en Unidades de psiquiatría (34,1% frente a 4,2%, p=0,001), sin apenas ingresar en unidades de cuidados intensivos (0,4% frente a 2,1%, p=0,01). La estancia en Urgencias fue más elevada (29,3±73,8 horas frente a 10,5±58,8 horas, p=0,001). CONCLUSIONES: En España, el cannabis es la droga que se relaciona en mayor medida con los casos de psicosis atendidas en Urgencias hospitalarias. Ésta clínica produce más ingresos hospitalarios, aunque con bajo riesgo a nivel orgánico.
Subject(s)
Psychotic Disorders , Substance-Related Disorders , Humans , Male , Adult , Female , Spain/epidemiology , Prospective Studies , Psychotic Disorders/epidemiology , Substance-Related Disorders/complications , Substance-Related Disorders/epidemiology , Emergency Service, Hospital , Registries , Referral and ConsultationABSTRACT
Fundamentos: Los problemas de salud mental van en aumento en España, siendo los relacionados con el consumo de drogas una faceta prevenible en el ámbito de la Salud Pública. En España existen pocos estudios sobre la incidencia y características de la psicosis aguda por consumo de drogas ilegales, sobre todo de ámbito nacional y multicéntrico, razón que motivó este trabajo. Métodos// Se realizó un estudio multicéntrico prospectivo, de veinticuatro meses de duración, en once servicios de Urgencias hospitalarias de España (Registro REDUrHE). Se compararon los pacientes con psicosis aguda respecto a los que presentaban patología orgánica, analizando aspectos demográficos, drogas involucradas, clínica asociada y evolución. Las variables cuantitativas se compararon mediante la t de Student y cualitativas con la prueba ji al cuadrado (o el test exacto de Fisher según procediera) y la magnitud de la asociación con la presencia de psicosis mediante regresión logística. Se consideró estadísticamente significativo un valor de p menor de 0,05 o si el IC95% de la OR excluía el valor 1. Resultados: De los 4.487 pacientes del registro, el 9,5% presentó psicosis aguda, con una mediana de edad de treinta y dos años y un 79% de varones. La clínica principal consistió en agitación (53%, p=0,001), alucinaciones (43,2%, p=0,001) y ansiedad (40%, p=0,00). La psicosis fue más frecuente con el consumo de cannabis (57,7%), de cocaína (42%) y de anfetaminas y derivados (26,4%), aunque en el análisis ajustado por coingesta de varias drogas (39,5%), o asociado a alcohol etílico (57,7%), sólo resultó estadísticamente significativo para el cannabis (p=0,0). Los pacientes con psicosis precisaron más ingreso hospitalario (38,1% frente a 10%, p=0,001), fundamentalmente en Unidades de psiquiatría (34,1% frente a 4,2%, p=0,001), sin apenas ingresar en unidades de cuidados intensivos (0,4% frente a 2,1%, p=0,01)...(AU)
Background: Mental health problems are increasing in Spain, and those related to drug use are a preventable aspect of public health. In Spain there are few studies on the incidence and characteristics of acute psychosis due to illegal drug use, especially at national and multicenter level, reason that motivated this paper. Methods: A prospective multicentre study was carried out in eleven hospital Emergency Departments in Spain, lasting twenty-four months (REDUrHE Registry). Patients with acute psychosis were compared with those with organic pathology, analysing demographic aspects, drugs involved, associated clinical manifestations and evolution Quantitative variables were compared using Students t-test and qualitative variables were compared using the chi-squared test (or Fishers exact test as appropriate) and the magnitude of the association with the presence of psychosis using logistic regression. A p-value of less than 0.05 was considered statistically significant or if the 95%CI of the OR excluded the value 1. Results: Of the 4,487 patients in the registry, 9.5% presented acute psychosis, with a median age of thirty-two years and 79% male. The main clinical features were agitation (53%, p=0.001), hallucinations (43.2%, p=0.001) and anxiety (40%, p=0.00). Psychosis was more frequent with cannabis (57.7%), cocaine (42%) and amphetamines and derivatives (26.4%), although in the analysis adjusted for co-drug use (39.5%), or in association with ethyl alcohol (57.7%), it was only statistically significant for cannabis (p=0.0). Patients with psychosis required more hospital admissions (38.1% vs. 10%, p=0.001), mainly in psychiatric units (34.1% vs. 4.2%, p=0.001), with hardly any intensive care unit admissions (0.4% vs. 2.1%, p=0.01). ED stay was high (29.3±73.8 hours vs 10.5±58.8 hours, p=0.001)...(AU)
Subject(s)
Humans , Male , Female , Emergency Service, Hospital , Psychotic Disorders/diagnosis , Illicit Drugs/adverse effects , Cannabis , Spain , Prospective Studies , Public Health , Mental HealthABSTRACT
Los niños con lesiones selares y/o supraselares pueden presentar diabetes insípida central con posterior secreción inadecuada de hormona antidiurética. Nosotros observamos, en algunos casos, aumento de la incidencia de poliuria, natriuresis e hiponatremia, tríada diagnóstica del síndrome cerebral perdedor de sal. Aquí comunicamos la evolución de 7 pacientes con antecedentes de daño agudo del sistema nervioso central y diabetes insípida central seguida por síndrome cerebral perdedor de sal. Como tratamiento aportamos secuencialmente fluidos salinos parenterales, cloruro de sodio oral, desmopresina, mineralocorticoides e incluso tiazidas. Ante la persistencia de poliuria con hiponatremia, agregamos ibuprofeno. Como resultado de este esquema terapéutico secuencial, este grupo redujo significativamente los valores de diuresis diaria de 10 ml/kg/h a 2 ml/kg/h en un tiempo promedio de 5 días, normalizando también las natremias (de 161 mEq/L a 143 mEq/L) en un tiempo promedio de 9 días. En ningún caso observamos efectos adversos asociados al tratamiento.
Children with sellar and/or suprasellar lesions may develop central diabetes insipidus with subsequent inappropriate antidiuretic hormone secretion. An increased incidence of polyuria, natriuresis, and hyponatremia has been reported in some cases, which make up the diagnostic triad of cerebral salt wasting syndrome. Here we report the clinical course of 7 patients with a history of acute central nervous system injury and central diabetes insipidus followed by cerebral salt wasting syndrome. Treatment included the sequential use of parenteral saline solution, oral sodium chloride, desmopressin, mineralocorticoids, and even thiazides. Due to persistent polyuria and hyponatremia, ibuprofen was added. As a result of this sequential therapeutic regimen, daily urine output reduced significantly from 10 mL/ kg/h to 2 mL/kg/h over an average period of 5 days, together with a normalization of natremia (from 161 mEq/L to 143 mEq/L) over an average period of 9 days. No treatment-related adverse effects were observed in any case.
Subject(s)
Humans , Child, Preschool , Child , Adolescent , Diabetes Insipidus, Neurogenic , Hyponatremia/etiology , Hyponatremia/drug therapy , Polyuria/complications , Polyuria/etiology , Research , Ibuprofen/therapeutic useABSTRACT
OBJECTIVE: The hypothalamic-pituitary-testicular axis is characterised by the existence of major functional changes from its establishment in fetal life until the end of puberty. The assessment of serum testosterone and gonadotrophins and semen analysis, typically used in the adult male, is not applicable during most of infancy and childhood. On the other hand, the disorders of gonadal axis have different clinical consequences depending on the developmental stage at which the dysfunction is established. This review addresses the approaches to evaluate the hypothalamic-pituitary-testicular axis in the newborn, during childhood and at pubertal age. DESIGN: We focused on the hormonal laboratory and genetic studies as well as on the clinical signs and imaging studies that guide the aetiological diagnosis and the functional status of the gonads. RESULTS: Serum gonadotrophin and testosterone determination is useful in the first 3-6 months after birth and at pubertal age, whereas AMH and inhibin B are useful biomarkers of testis function from birth until the end of puberty. Clinical and imaging signs are helpful to appraise testicular hormone actions during fetal and postnatal life. CONCLUSIONS: The interpretation of results derived from the assessment of hypothalamic-pituitary-testicular in paediatric patients requires a comprehensive knowledge of the developmental physiology of the axis to understand its pathophysiology and reach an accurate diagnosis of its disorders.
ABSTRACT
Background: Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence. Methods: Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development (I-DSD) Registry. Logistic regressions, fisher's exact tests and spearman's correlation tests were performed on the data to assess associations between clinical factors and complication rates. Results: Of the 551 eligible boys, data were available on 160 (29%). Within the cohort, the median (range) External Masculinization Score (EMS) was 6 (2, 9). All presented with one or more additional genital malformation and 61 (38%) presented with additional extragenital malformations. Disorders of androgen action, androgen synthesis and gonadal development were diagnosed in 28 (18%), 22 (14%) and 9 (6%) boys, respectively. The remaining 101 (62%) patients were diagnosed as having non-specific 46,XY Disorders of Sex Development. Eighty (50%) boys had evidence of abnormal biochemistry, and gene variants were identified in 42 (26%). Median age at first hypospadias surgery was 2 years (0, 9), and median length of follow-up was 5 years (0, 17). Postsurgical complications were noted in 102 (64%) boys. There were no significant associations with postsurgical complications. Conclusions: Boys with proximal hypospadias in the I-DSD Registry have high rates of additional comorbidities and a high risk of postoperative complications. No clinical factors were significantly associated with complication rates. High complication rates with no observable cause suggest the involvement of other factors which need investigation.
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AIMS: The main objective of this study is to determine whether exposure to Saharan dust causes airway inflammation and oxidative stress in patients with stable chronic heart failure (HF) and a left ventricular ejection fraction of less than 40%. METHODS: A longitudinal study design is used, involving the inclusion of 40 patients with stable chronic HF and a left ventricular ejection fraction of less than 40%. Four sputum samplings will be taken from each patient, with one sampling taken each week over four consecutive weeks. The sputum samples will be used to analyze the degree of inflammation and oxidative stress. Air quality monitoring stations will be used to analyze the particulate matter (PM) exposure of each patient. The intrusion of desert dust will be identified using meteorological models. There will be 160 scheduled samplings in 40 patients with chronic HF. Mixed regression models will be used to assess the influence of the concentrations of PM (from the episodes of desert dust) upon the airway inflammation and oxidative stress markers. CONCLUSION: The results of this study will test the hypothesis that exposure to high concentrations of Saharan dust affects the normal function of the respiratory epithelium due to the imbalance between the production of free radicals and antioxidant enzymes, thus causing increased pulmonary inflammation and oxidative stress in patients with HF that in turn may facilitate decompensations of their background disease condition.
ABSTRACT
Children with sellar and/or suprasellar lesions may develop central diabetes insipidus with subsequent inappropriate antidiuretic hormone secretion. An increased incidence of polyuria, natriuresis, and hyponatremia has been reported in some cases, which make up the diagnostic triad of cerebral salt wasting syndrome. Here we report the clinical course of 7 patients with a history of acute central nervous system injury and central diabetes insipidus followed by cerebral salt wasting syndrome. Treatment included the sequential use of parenteral saline solution, oral sodium chloride, desmopressin, mineralocorticoids, and even thiazides. Due to persistent polyuria and hyponatremia, ibuprofen was added. As a result of this sequential therapeutic regimen, daily urine output reduced significantly from 10 mL/kg/h to 2 mL/kg/h over an average period of 5 days, together with a normalization of natremia (from 161 mEq/L to 143 mEq/L) over an average period of 9 days. No treatment-related adverse effects were observed in any case.
Los niños con lesiones selares y/o supraselares pueden presentar diabetes insípida central con posterior secreción inadecuada de hormona antidiurética. Nosotros observamos, en algunos casos, aumento de la incidencia de poliuria, natriuresis e hiponatremia, tríada diagnóstica del síndrome cerebral perdedor de sal. Aquí comunicamos la evolución de 7 pacientes con antecedentes de daño agudo del sistema nervioso central y diabetes insípida central seguida por síndrome cerebral perdedor de sal. Como tratamiento aportamos secuencialmente fluidos salinos parenterales, cloruro de sodio oral, desmopresina, mineralocorticoides e incluso tiazidas. Ante la persistencia de poliuria con hiponatremia, agregamos ibuprofeno. Como resultado de este esquema terapéutico secuencial, este grupo redujo significativamente los valores de diuresis diaria de 10 ml/kg/h a 2 ml/kg/h en un tiempo promedio de 5 días, normalizando también las natremias (de 161 mEq/L a 143 mEq/L) en un tiempo promedio de 9 días. En ningún caso observamos efectos adversos asociados al tratamiento.
Subject(s)
Diabetes Insipidus, Neurogenic , Hyponatremia , Humans , Child , Hyponatremia/drug therapy , Hyponatremia/etiology , Polyuria/etiology , Polyuria/complications , Ibuprofen/therapeutic use , ResearchABSTRACT
Multipotent mesenchymal stromal cells (MSCs) have been described as bone marrow stromal cells, which can form cartilage, bone or hematopoietic supportive stroma. In 2006, the International Society for Cell Therapy (ISCT) established a set of minimal characteristics to define MSCs. According to their criteria, these cells must express CD73, CD90 and CD105 surface markers; however, it is now known they do not represent true stemness epitopes. The objective of the present work was to determine the surface markers for human MSCs associated with skeletal tissue reported in the literature (1994-2021). To this end, we performed a scoping review for hMSCs in axial and appendicular skeleton. Our findings determined the most widely used markers were CD105 (82.9%), CD90 (75.0%) and CD73 (52.0%) for studies performed in vitro as proposed by the ISCT, followed by CD44 (42.1%), CD166 (30.9%), CD29 (27.6%), STRO-1 (17.7%), CD146 (15.1%) and CD271 (7.9%) in bone marrow and cartilage. On the other hand, only 4% of the articles evaluated in situ cell surface markers. Even though most studies use the ISCT criteria, most publications in adult tissues don't evaluate the characteristics that establish a stem cell (self-renewal and differentiation), which will be necessary to distinguish between a stem cell and progenitor populations. Collectively, MSCs require further understanding of their characteristics if they are intended for clinical use.
ABSTRACT
BACKGROUND: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. SUMMARY: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. KEY MESSAGE: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels - especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins - and karyotyping.
Subject(s)
Disorders of Sex Development , Hypogonadism , Infant, Newborn , Humans , Male , Child , Female , Adolescent , Disorders of Sex Development/diagnosis , Disorders of Sex Development/genetics , Testosterone , Sexual Development , GenitaliaABSTRACT
La hipertensión arterial esencial es una patología de alta prevalencia a nivel mundial, y uno de los determinantes más significativos para enfermedad cardiovascular. Por otra parte, se ha generado un gran interés por la microbiota del cuerpo, y la forma en que se ve alterada por factores tanto internos como externos, ocasionando disbiosis. En la actualidad se viene estudiando el efecto de la microbiota en diferentes enfermedades, entre ellas, la relación entre la microbiota y la hipertensión. En este artículo se hizo una revisión de la literatura, entre 2010 a 2021, con el objetivo de identificar la evidencia científica que sustenta la relación entre la composición de la microbiota y la hipertensión arterial esencial. Se encontró en muchos estudios que los hipertensos tenían una diversidad menor de la microbiota, en comparación con los grupos de control sanos. En los hipertensos se encontraron principalmente bacterias del género Prevotella y en el grupo control predominaba el género Bacteroidetes. Adicionalmente, se observó una disminución de Faecalibacterium, Roseburia y Bifidobacterium en el grupo de hipertensos. Existen varias técnicas de laboratorio para el reconocimiento de la población bacteriana del intestino, tales como la secuenciación de la subunidad de ARNr 16S, la secuenciación del genoma completo y la metagenómica de la microbiota. A pesar de que los estudios realizados sobre la relación microbiota e hipertensión concluyen que existe una relación significativa entre ambas, es necesario hacer más investigaciones en diferentes grupos poblacionales
Essential arterial hypertension is a highly prevalent pathology worldwide and is one of the most significant determinants of cardiovascular disease. On the other hand, great interest has been generated in the microbiota of the body, and how it is altered by both internal and external factors, causing dysbiosis. Currently, the effect of the microbiota in different diseases is being studied, including the relationship between the microbiota and hypertension. In this article, a review of the literature was made, between 2010 and 2021, with the objective of identifying the scientific evidence that supports the relationship between the composition of the microbiota and essential arterial hypertension. It was found in many studies that individuals with high blood pressure had lower microbiota diversity compared to healthy control groups. In hypertensive patients, bacteria of the genus Prevotella were mainly found, while in the control group the genus Bacteroidetes predominated. Additionally, a decrease in Faecalibacterium, Roseburia and Bifidobacterium was observed in the hypertensive group. There are several laboratory techniques for the analysis of the intestinal bacterial population, such as 16S rRNA subunit sequencing, whole genome sequencing, and microbiota metagenomics. Despite the fact that the studies conclude that there is a significant relationship between microbiota and hypertension, it is necessary to do more research in different population groups
Subject(s)
Humans , Essential Hypertension , Humans , Epidemiology , Risk Factors , Probiotics , Prebiotics , Microbiota , InflammationABSTRACT
OBJECTIVES: To determine whether symptoms and levels of severity of intoxication from street drugs differ between adolescents and young adults who come to hospital emergency departments for treatment. MATERIAL AND METHODS: We studied a consecutive cohort of adolescents (aged 12-17 years) and young adults (aged 18-30 years) who were treated in 11 hospital emergency departments belonging to the Drug Abuse Network of Spanish Hospital Emergency Departments (REDURHE). Sociodemographic and clinical characteristics and level of severity were recorded for comparison between between adolescents and young adults, adjusted for sex, alcohol co-ingestion, and type of drug used. An intoxication was recorded as severe if at least 1 of the following indicators was present: cardiac arrest, tracheal intubation, intensive care unit admission, and in-hospital death. RESULTS: We included a total of 2181 patients: 249 adolescents (11.4%) and 1932 young adults (88.6%). Alcohol coingestion and use of multiple drugs were less common in adolescents, who had significantly more events related to cannabis (in 81.1% vs 49.0% of young adults) and benzodiazepines (13.3% vs 5.5%). The adolescents had significantly fewer intoxications from the use of cocaine (10.8% vs 45.1%), amphetamines (17.3% vs 32.3%), ketamine (0.4% vs 6.0%) and gamma-hydroxybutyrate (0.4% vs 4.0%). A higher proportion of adolescents than young adults presented with diminished consciousness (23.0% vs 16.9%), but fewer manifested anxiety (15.9% vs 26.3%), palpitations (11.0% vs 19.5%), or chest pain (2.8% vs 9.2%). The pattern of associations was similar in the subgroup of intoxications due to cannabis. The adjusted model confirmed that the adolescents were more likely to have diminished consciousness, with an odds ratio (OR) of 1.851 (95% CI, 1.204-2.844) and less likely to have anxiety (OR, 0.529 (95% CI, 0.347-0.807). Intoxication was severe in 46 patients overall (2.1%); in adolescents and young adults the proportions were 0.8% and 2.3%, respectively (P = 0.129). In adolescents, the OR was 0.568 (95% CI, 0.131-2.468) for severity; for component indicators, the ORs were 0.494 (95% CI, 0.063-3.892) for intubation and 0.780 (95% CI, 0.175-3.475) for intensive care unit admission. No deaths occurred. CONCLUSION: Adolescents requiring emergency care for street drug intoxication had co-ingested alcohol or taken multiple drugs less often than young adults. Cannabis was the drug most often used by adolescents, who presented more often with diminished consciousness but less often with anxiety. We detected no differences related to event severity.
OBJETIVO: Investigar si existen diferencias en las drogas, sintomatología y gravedad entre adolescentes y jóvenes atendidos por intoxicación por drogas en servicios de urgencias hospitalarios (SUH). METODO: Entre los pacientes consecutivos atendidos por consumo de drogas en los 11 SUH de la REDURHE (Red de estudio de Drogas en Urgencias Hospitalarios en España), se seleccionaron los adolescentes (edad = 12-17 años) y los jóvenes (edad = 18-30 años). Se compararon las características sociodemográficas, clínicas y la gravedad (evento adverso combinado EAC: parada cardiorrespiratoria, intubación endotraqueal, ingreso en cuidados intensivos o muerte intrahospitalaria) en adolescentes y jóvenes, ajustadas por sexo, coingesta de etanol y drogas involucradas. RESULTADOS: Se incluyeron 2.181 pacientes (adolescentes = 249, 11,4%; jóvenes = 1.932, 88,6%). En adolescentes, la coingesta de etanol y múltiples drogas fue menos frecuente. Hubo significativamente más asistencias por cannabis (81,1% vs 49,0%) y benzodiacepinas (13,3% vs 5,5%) y menos por cocaína (10,8% vs 45,1%), anfetamínicos (17,3% vs 32,3%), ketamina (0,4% vs 6,0%) y gamma-hidroxibutirato (0,4% vs 4,0%). Los adolescentes presentaron más disminución de consciencia (23,0% vs 16,9%) y menos ansiedad (15,9% vs 26,3%), palpitaciones (11,0% vs 19,5%) y dolor torácico (2,8% vs 9,2%). Estas asociaciones se mantuvieron al analizar el subgrupo de intoxicados por cannabis. En el modelo ajustado, los adolescentes presentan más disminución de consciencia con (OR = 1,851, IC 95%: 1,204-2,844) y menos ansiedad (OR = 0,529, IC 95%: 0,347-0,807). Se observó EAC en 46 pacientes (2,0%; 0,8% vs 2,3%, p = 0,129). La OR ajustada en adolescentes para EAC fue 0,568 (IC 95%: 0,131-2,468), y para intubación 0,494 (IC 95%: 0,063-3,892) y para ingreso en intensivos 0,780 (IC 95%: 0,175-3,475). No hubo fallecimientos. CONCLUSIONES: Los adolescentes intoxicados por drogas atendidos en SUH presentan con menor frecuencia coingesta de etanol o múltiples drogas. La droga más frecuentemente implicada es el cannabis, y presentan más disminución de consciencia y menos ansiedad. No detectamos diferencias en la gravedad entre adolescentes y jóvenes.
Subject(s)
Cannabis , Cocaine , Illicit Drugs , Ketamine , Sodium Oxybate , Adolescent , Benzodiazepines , Emergency Service, Hospital , Ethanol , Hospital Mortality , Humans , Young AdultABSTRACT
Objetivo. Investigar si existen diferencias en las drogas, sintomatología y gravedad entre adolescentes y jóvenes atendidos por intoxicación por drogas en servicios de urgencias hospitalarios (SUH).Método. Entre los pacientes consecutivos atendidos por consumo de drogas en los 11 SUH de la REDURHE (Red de estudio de Drogas en Urgencias Hospitalarios en España), se seleccionaron los adolescentes (edad = 12-17 años) y los jóvenes (edad = 18-30 años). Se compararon las características sociodemográficas, clínicas y la gravedad (evento adverso combinado EAC: parada cardiorrespiratoria, intubación endotraqueal, ingreso en cuidados intensivos o muerte intrahospitalaria) en adolescentes y jóvenes, ajustadas por sexo, coingesta de etanol y drogas involucradas.Resultados. Se incluyeron 2.181 pacientes (adolescentes = 249, 11,4%; jóvenes = 1.932, 88,6%). En adolescentes, la coingesta de etanol y múltiples drogas fue menos frecuente. Hubo significativamente más asistencias por cannabis (81,1% vs 49,0%) y benzodiacepinas (13,3% vs 5,5%) y menos por cocaína (10,8% vs 45,1%), anfetamínicos (17,3% vs 32,3%), ketamina (0,4% vs 6,0%) y gamma-hidroxibutirato (0,4% vs 4,0%). Los adolescentes presentaron más disminución de consciencia (23,0% vs 16,9%) y menos ansiedad (15,9% vs 26,3%), palpitaciones (11,0% vs 19,5%) y dolor torácico (2,8% vs 9,2%). Estas asociaciones se mantuvieron al analizar el subgrupo de intoxicados por cannabis. En el modelo ajustado, los adolescentes presentan más disminución de consciencia con (OR = 1,851, IC 95%: 1,204-2,844) y menos ansiedad (OR = 0,529, IC 95%: 0,347-0,807). Se observó EAC en 46 pacientes (2,0%; 0,8% vs 2,3%, p = 0,129). La OR ajustada en adolescentes para EAC fue 0,568 (IC 95%: 0,131-2,468), y para intubación 0,494 (IC 95%: 0,063-3,892) y para ingreso en intensivos 0,780 (IC 95%: 0,175-3,475). No hubo fallecimientos. (AU)
Objective. To determine whether symptoms and levels of severity of intoxication from street drugs differ between adolescents and young adults who come to hospital emergency departments for treatment.Methods. We studied a consecutive cohort of adolescents (aged 12-17 years) and young adults (aged 18-30 years) who were treated in 11 hospital emergency departments belonging to the Drug Abuse Network of Spanish Hospital Emergency Departments (REDURHE). Sociodemographic and clinical characteristics and level of severity were recorded for comparison between between adolescents and young adults, adjusted for sex, alcohol co-ingestion, and type of drug used. An intoxication was recorded as severe if at least 1 of the following indicators was present: cardiac arrest, tracheal intubation, intensive care unit admission, and in-hospital death.Results. We included a total of 2181 patients: 249 adolescents (11.4%) and 1932 young adults (88.6%). Alcohol coingestion and use of multiple drugs were less common in adolescents, who had significantly more events related to cannabis (in 81.1% vs 49.0% of young adults) and benzodiazepines (13.3% vs 5.5%). The adolescents had significantly fewer intoxications from the use of cocaine (10.8% vs 45.1%), amphetamines (17.3% vs 32.3%), ketamine (0.4% vs 6.0%) and gamma-hydroxybutyrate (0.4% vs 4.0%). A higher proportion of adolescents tan young adults presented with diminished consciousness (23.0% vs 16.9%), but fewer manifested anxiety (15.9% vs 26.3%), palpitations (11.0% vs 19.5%), or chest pain (2.8% vs 9.2%). (AU)
Subject(s)
Humans , Male , Female , Adolescent , Young Adult , Adult , Illicit Drugs , Poisoning , Emergency Service, Hospital , Epidemiology, Descriptive , Prospective Studies , SpainABSTRACT
Characterization of model errors is important when applying satellite-driven evapotranspiration (ET) models to water resource management problems. This study examines how uncertainty in meteorological forcing data and land surface modeling propagate through to errors in final ET data calculated using the Satellite Irrigation Management Support (SIMS) model, a computationally efficient ET model driven with satellite surface reflectance values. The model is applied to three instrumented winegrape vineyards over the 2017-2020 time period and the spatial and temporal variation in errors are analyzed. We illustrate how meteorological data inputs can introduce biases that vary in space and at seasonal timescales, but that can persist from year to year. We also observe that errors in SIMS estimates of land surface conductance can have a particularly strong dependence on time of year. Overall, meteorological inputs introduced RMSE of 0.33-0.65 mm/day (7-27%) across sites, while SIMS introduced RMSE of 0.55-0.83 mm/day (19-24%). The relative error contribution from meteorological inputs versus SIMS varied across sites; errors from SIMS were larger at one site, errors from meteorological inputs were larger at a second site, and the error contributions were of equal magnitude at the third site. The similar magnitude of error contributions is significant given that many satellite-driven ET models differ in their approaches to estimating land surface conductance, but often rely on similar or identical meteorological forcing data. The finding is particularly notable given that SIMS makes assumptions about the land surface (no soil evaporation or plant water stress) that do not always hold in practice. The results of this study show that improving SIMS by eliminating these assumptions would result in meteorological inputs dominating the error budget of the model on the whole. This finding underscores the need for further work on characterizing spatial uncertainty in the meteorological forcing of ET. Supplementary Information: The online version contains supplementary material available at 10.1007/s00271-022-00808-9.
ABSTRACT
Robust information on consumptive water use (evapotranspiration, ET) derived from remote sensing can significantly benefit water decision-making in agriculture, informing irrigation schedules and water management plans over extended regions. To be of optimal utility for operational usage, these remote sensing ET data should be generated at the sub-field spatial resolution and daily-to-weekly timesteps commensurate with the scales of water management activities. However, current methods for field-scale ET retrieval based on thermal infrared (TIR) imaging, a valuable diagnostic of canopy stress and surface moisture status, are limited by the temporal revisit of available medium-resolution (100 m or finer) thermal satellite sensors. This study investigates the efficacy of a data fusion method for combining information from multiple medium-resolution sensors toward generating high spatiotemporal resolution ET products for water management. TIR data from Landsat and ECOSTRESS (both at ~ 100-m native resolution), and VIIRS (375-m native) are sharpened to a common 30-m grid using surface reflectance data from the Harmonized Landsat-Sentinel dataset. Periodic 30-m ET retrievals from these combined thermal data sources are fused with daily retrievals from unsharpened VIIRS to generate daily, 30-m ET image timeseries. The accuracy of this mapping method is tested over several irrigated cropping systems in the Central Valley of California in comparison with flux tower observations, including measurements over irrigated vineyards collected in the GRAPEX campaign. Results demonstrate the operational value added by the augmented TIR sensor suite compared to Landsat alone, in terms of capturing daily ET variability and reduced latency for real-time applications. The method also provides means for incorporating new sources of imaging from future planned thermal missions, further improving our ability to map rapid changes in crop water use at field scales.
ABSTRACT
Improved accuracy of evapotranspiration (ET) estimation, including its partitioning between transpiration (T) and surface evaporation (E), is key to monitor agricultural water use in vineyards, especially to enhance water use efficiency in semi-arid regions such as California, USA. Remote-sensing methods have shown great utility in retrieving ET from surface energy balance models based on thermal infrared data. Notably, the two-source energy balance (TSEB) has been widely and robustly applied in numerous landscapes, including vineyards. However, vineyards add an additional complexity where the landscape is essentially made up of two distinct zones: the grapevine and the interrow, which is often seasonally covered by an herbaceous cover crop. Therefore, it becomes more complex to disentangle the various contributions of the different vegetation elements to total ET, especially through TSEB, which assumes a single vegetation source over a soil layer. As such, a remote-sensing-based three-source energy balance (3SEB) model, which essentially adds a vegetation source to TSEB, was applied in an experimental vineyard located in California's Central Valley to investigate whether it improves the depiction of the grapevine-interrow system. The model was applied in four different blocks in 2019 and 2020, where each block had an eddy-covariance (EC) tower collecting continuous flux, radiometric, and meteorological measurements. 3SEB's latent and sensible heat flux retrievals were accurate with an overall RMSD ~ 50 W/m2 compared to EC measurements. 3SEB improved upon TSEB simulations, with the largest differences being concentrated in the spring season, when there is greater mixing between grapevine foliage and the cover crop. Additionally, 3SEB's modeled ET partitioning (T/ET) compared well against an EC T/ET retrieval method, being only slightly underestimated. Overall, these promising results indicate 3SEB can be of great utility to vineyard irrigation management, especially to improve T/ET estimations and to quantify the contribution of the cover crop to ET. Improved knowledge of T/ET can enhance grapevine water stress detection to support irrigation and water resource management. Supplementary Information: The online version contains supplementary material available at 10.1007/s00271-022-00787-x.