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1.
An. pediatr. (2003. Ed. impr.) ; 100(2): 132-140, Feb. 2024. ilus, graf
Artigo em Espanhol | IBECS | ID: ibc-230287

RESUMO

En el presente trabajo se presenta una aproximación a los contenidos de las ponencias del IICongreso Nacional de Pediatría, celebrado en San Sebastián en 1923, con ocasión del centenario del mismo. Se destaca como hilo conductor de las mismas el problema de la mortalidad infantil, que en aquellos años era muy elevada en España y era una preocupación de políticos, de intelectuales y de la clase médica. Se constata que alguna de las propuestas y preocupaciones de los pediatras que asistieron a dicho congreso siguen vigentes hoy en día.(AU)


In this work, we present an overview of the contents of the communications presented at the Second National Congress of Paediatrics, held in San Sebastian in 1923, on the occasion of the 100th year anniversary. The problem of infant mortality stands out as a common thread, which in those years was very high in Spain and was a concern of politicians, intellectuals and the medical profession. It is worth noting that some of the proposals and concerns of the paediatricians who attended that congress continue to be relevant today.(AU)


Assuntos
Humanos , Masculino , Feminino , Pediatria/história , Mortalidade Infantil/história , História do Século XX , Congressos como Assunto/história , Espanha
2.
Pediatr Nephrol ; 38(11): 3845-3848, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37052691

RESUMO

BACKGROUND: Fractional tubular reabsorption of phosphate (TRP) has been used for over 60 years to establish the existence of renal phosphate loss. It is a parameter of corrected volume per decilitre of glomerular filtration rate (GFR). Later, a mass parameter per dl GFR called TP/GFR (tubular PO4 reabsorption per dl GFR) was devised which some authors have sought to substitute for TRP. The aim of the present work is to attempt to demonstrate that TRP and TP/GFR are similar parameters and, in certain aspects, TRP is more effective for diagnosis. METHODS: Data were gathered on the metabolism of phosphate corresponding to a group of healthy children without hypophosphatemia (n = 47), a group of patients with idiopathic hypercalciuria (n = 27), and ten patients diagnosed with X-linked hypophosphatemia (XLH). The TRP, the TP/GFR, and the percent tubular reabsorption of phosphate were calculated. RESULTS: All the patients with XLH presented TRP values lower than 95 ml/dl GFR and of TP/GFR equal to or lower than 2.8 mg/dl GFR. In the total sample, a direct correlation was observed between TRP and TP/GFR (r = 0.65; p = 0.01). The TRP and the percent tubular reabsorption of phosphate values were the same in the three groups (r = 1; p = 0.01). CONCLUSIONS: TRP and TP/GFR are similar parameters. TRP is more effective than TP/GFR given that in renal hypophosphatemia it is always below 95% and above 95% in reduced phosphatemia and normal kidney proximal tubular function. There is no solid reason for using TP/GFR rather than TRP. A higher resolution version of the Graphical abstract is available as Supplementary information.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Criança , Humanos , Raquitismo Hipofosfatêmico Familiar/diagnóstico , Taxa de Filtração Glomerular , Hipofosfatemia/diagnóstico , Hipofosfatemia/etiologia , Rim/metabolismo , Túbulos Renais/metabolismo , Fosfatos/metabolismo
7.
Pediatr. aten. prim ; 24(95)jul.- sept. 2022. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-212675

RESUMO

Analizando la participación de las mujeres en los primeros congresos de Pediatría, llama la atención que una buena parte de ellas pertenecían a organizaciones feministas y que, además de su militancia, tenían una preocupación por los y las menores, por sus aspectos educativos y legales.Se han revisado las actas y publicaciones relacionadas con los cinco primeros congresos nacionales de Pediatría (CNP) (1914-1933), biografías de las participantes y publicaciones sobre el feminismo en los años 20 y 30 del pasado siglo.En los cinco primeros CNP participaron 14 mujeres: un 15% eran del ámbito sanitario, un 65%, del educativo y un 29%, del derecho. Siete de ellas pertenecían a organizaciones feministas (50%). Hay dos generaciones de feministas que participaron en los CNP. La primera militó en la Asociación Nacional de Mujeres Españolas, donde la mayoría de ellas ostentaba cargos orgánicos y su labor profesional fue la educación. La segunda, en torno a Juventud Universitaria Femenina, y su dedicación laboral fue el derecho. Su participación en los CNP fue sobre esos temas, educación y derechos de la infancia. Así mismo, impulsaron otras actividades en defensa de la infancia a nivel social, como las 'cantinas escolares', los 'desayunos escolares' o el 'club infantil' de tiempo libre para las clases más desfavorecidas.Las mujeres que se han estudiado, desde su concepción feminista de la vida, no solo trabajaron por los derechos de la mujer, sino que se esforzaron por mejorar la vida de la infancia y el reconocimiento de sus derechos. (AU)


Analysing the participation of women in the first paediatric congresses, it stands out that many of them belonged to feminist organisations and that, in addition to the pursuit of their cause, they were concerned about children, including educational and legal aspects.We reviewed the minutes and publications related to the first five National Paediatric Congresses (NCPs) (1914-1933), biographies of the participants and publications on feminism in the 1920s and 1930s.Fourteen women participated in the first 5 NPCs, 15% from the health care field, 65% from the field of education and 29% from the field of law. Seven of them belonged to feminist organisations (50%). Two generations of feminists participated in the NPCs. Women from the first generation were actively involved in the National Association of Spanish Women, most of who held positions in administration and worked in the education field. Women from the second generation were organised around the Juventud Universitaria Femenina (University Young Women’s Organization) and worked in law. Their participation in the NPCs had to do with these issues, education and children’s rights. They also promoted other activities to advocate for children at a social level, such as the “school canteens”, “school breakfasts” or the “Children’s Club”, which provided leisure activities for disadvantaged groups.The women whose activity we reviewed, through their feminist perspective of life, not only worked for women’s rights, but also strove to improve the lives of children and to achieve the recognition of their rights. (AU)


Assuntos
Humanos , Feminino , História do Século XX , Congressos como Assunto/história , Feminismo/história , Cuidado da Criança/história , Saúde da Criança/história , Espanha
8.
J Pediatr Urol ; 17(4): 513.e1-513.e7, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34244058

RESUMO

INTRODUCTION: Split renal function measured in a diuretic renogram is the most popular tool in initial assessment and follow-up of patients with ureteropelvic junction obstruction (UPJO). This study aims to evaluate the use of maximum urinary osmolality after desmopressin administration (DDAVP) to detect renal dysfunction. PATIENTS AND METHODS: 56 children (33 males, 23 females) diagnosed with UPJO underwent quantification of the maximum urinary osmolality (UOsm) at diagnosis. 41 of these children (28 males, 13 females) underwent surgery for UPJO and quantification of the UOsm before and after the surgical intervention (six to 18 months postoperatively) and were included in this longitudinal study. RESULTS AND DISCUSSION: At diagnosis, UOsm measured after desmopressin administration was abnormal in 64% of patients. After surgical intervention, this rate decreased to 53%. At initial assessment, high creatinine levels were found in 32% of infants younger than one year of age. Albumin/Cr and NAG/Cr ratios were elevated in 12% and 7% of cases, respectively. After surgical intervention, an improvement in the NAG/creatinine ratio and creatinine levels was observed. Preoperative split renal function of the affected kidney was less than 45% in 39% of cases, normal in 44%, and greater than 55% in 17%; in these three subgroups, no differences in renal function markers were found. CONCLUSIONS: The most sensitive parameter to detect alterations in renal function in children with UPJO is the UOsm and, therefore, the most useful in the follow-up after surgery. No correlation was found between other functional and morphological parameters obtained on renal ultrasound and renogram.


Assuntos
Hidronefrose , Obstrução Ureteral , Criança , Feminino , Humanos , Lactente , Rim/diagnóstico por imagem , Rim/fisiologia , Rim/cirurgia , Pelve Renal , Estudos Longitudinais , Masculino , Concentração Osmolar , Obstrução Ureteral/diagnóstico por imagem , Obstrução Ureteral/cirurgia
9.
Intractable Rare Dis Res ; 5(4): 284-289, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27904825

RESUMO

Sclerosing bone dysplasias are a series of clinically and genetically heterogeneous diseases characterized by functional failure of the osteoclasts in bone resorption, leading to an excessive amount of bone mineral density (BMD) which could have serious clinical consequences. We treated three children affected with seriously high levels of BMD with acetazolamide, with the intention of inducing metabolic acidosis, thus increasing bone resorption and reducing BMD. All our patients tolerated and followed the treatment well and the clinical response was satisfactory in all cases.

12.
Eur J Pediatr ; 174(10): 1373-85, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25902753

RESUMO

UNLABELLED: Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presented with dehydration, polyuria-polydipsia, failure to thrive (mean ± SD; Z-height -1.9 ± 2.1 and Z-weight -2.4 ± 1.7), severe hypernatremia (mean ± SD; Na 150 ± 10 mEq/L), increased plasma osmolality (mean ± SD; 311 ± 18 mOsm/Kg), but normal glomerular filtration rate. Genetic diagnosis revealed that 24 male patients were hemizygous for 17 different putative disease-causing mutations in the AVPR2 gene (each one in a different family). Of those, nine had not been previously reported, and eight were recurrent. Moreover, we found those same AVPR2 changes in 12 relatives who were heterozygous carriers. Further, in one female patient, AVPR2 gene study turned out to be negative and she was found to be homozygous for the novel AQP2 p.Ala86Val alteration. CONCLUSION: Genetic analysis presumably confirmed the diagnosis of nephrogenic diabetes insipidus in every patient of the studied cohort. We emphasize that we detected a high presence (50 %) of heterozygous females with clinical NDI symptoms. WHAT IS KNOWN: • In most cases (90 %), inherited nephrogenic diabetes insipidus (NDI) is an X-linked disease, caused by mutations in the AVPR2 gene. • In rare occasions (10 %), it is caused by mutations in the AQP2 gene. What is new: • In this study, we report 10 novel mutations associated with NDI. • We have detected a high presence (50 %) of heterozygous carriers with clinical NDI symptoms.


Assuntos
Aquaporina 2/genética , DNA/genética , Diabetes Insípido Nefrogênico/genética , Mutação , Aquaporina 2/metabolismo , Criança , Pré-Escolar , Análise Mutacional de DNA , Diabetes Insípido Nefrogênico/diagnóstico , Diabetes Insípido Nefrogênico/metabolismo , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem
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