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1.
Pediatr Nephrol ; 2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38607422

RESUMEN

Acute post-streptococcal glomerulonephritis (APSGN) is the most common glomerulonephritis of childhood, and clinical presentation can vary widely. This case report presents an atypical manifestation of APSGN in an 8-year-old female patient with pleuritic chest pain and elevated troponin-I, despite lacking classical kidney symptoms. Imaging studies showed cardiomegaly and interstitial lung opacities. Further investigations revealed hematuria and proteinuria, and the diagnosis was confirmed through elevated antistreptolysin-O (ASO) titers and low complement 3 (C3) levels. The patient was successfully managed with fluid restriction, diuretics, and antihypertensives, resulting in the resolution of symptoms and normalization of laboratory values. This case highlights the significance of recognizing atypical manifestations of APSGN for ensuring prompt diagnosis and proper management in the pediatric population.

2.
Radiologie (Heidelb) ; 2024 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-38277036

RESUMEN

PURPOSE: We aimed to explore the performance of diffusion-tensor imaging (DTI) and apparent diffusion coefficient (ADC) parameters in evaluating disease-free survival (DFS) and overall survival (OS) in patients with invasive breast cancer. MATERIAL AND METHODS: A total of 49 women with invasive breast cancer who were diagnosed between 2017 and 2022 were included. All patients underwent breast magnetic resonance imaging (MRI) with DTI and diffusion-weighted imaging (DWI) features, with examiners blinded to the clinical data. Volume anisotropy (VA), fractional anisotropy (FA), and ADC values were measured to assess intratumoral measured heterogeneity. Correlations and differences in diffusion metrics according to OS and DFS status of the cases were analyzed. The discriminative ability of the quantitative findings was assessed by receiver operating characteristic (ROC) curve analyses and validated in the independent cohort. RESULTS: We evaluated patients with metastases (n = 13, 36.5%) and those without metastases (n = 36, 73.5%). Differences in the ADC, FA, and VA values were observed. The results of Cox regression survival analysis for all the patients included in the survival analysis revealed that DTI metrics contributed to the prediction of overall survival (OS) in the emerging models (p < 0.05). Both FA and VA were associated with OS (p = 0.037 and p = 0.038, respectively). However, ADC was not associated with OS (p = 0.177) or DFS (p = 0.252). CONCLUSION: To the best of our knowledge, this is the first study to assess the prognostic value of DTI-MRI in breast cancer with statistical survival analysis techniques. We believe that DTI measurements can be used as a biomarker for OS analysis in breast cancer given the available data.

3.
Curr Med Imaging ; 2023 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-37602541

RESUMEN

BACKGROUND: Gastric teratoma (GT) occurs as a rule in infancy and is an extremely unusual gastric tumor in adult patients. CASE PRESENTATION: In this paper, we present the clinical and imaging findings of a 56-year-old female patient with a GT. The patient's main symptoms were increasing abdominal discomfort and pain. After the physical examination, she underwent ultrasound (US) and computed tomography (CT), which showed a large mass at the posterior wall of the stomach, and a teratoma was initially considered. After surgery, pathology confirmed the diagnosis of GT. The patient recovered after surgery and was discharged in good health. To the best of our knowledge, this study is the first reported case of gastric teratoma in an adult woman in the literature. CONCLUSION: Gastric teratoma of the adult period is a rare benign neoplasm that may have several complications; therefore, imaging is crucial for diagnosis and accurate treatment management. The aim of this study is to emphasize the value of US and CT in the diagnosis and treatment monitoring of mature gastric teratomas.

4.
Turk J Pediatr ; 65(3): 456-468, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37395965

RESUMEN

BACKGROUND: Alport syndrome (AS) is characterized by progressive kidney disease. There is increasing evidence that renin-angiotensin-aldosterone system (RAAS) inhibition delays chronic kidney disease (CKD) while the effectiveness of immunosuppressive (IS) therapy in AS is still uncertain. In this study, we aimed to analyze the outcomes of pediatric patients with X-linked AS (XLAS) who received RAAS inhibitors and IS therapy. METHODS: Seventy-four children with XLAS were included in this multicenter study. Demographic features, clinical and laboratory data, treatments, histopathological examinations, and genetic analyses were analyzed retrospectively. RESULTS: Among 74 children, 52 (70.2%) received RAAS inhibitors, 11 (14.9%) received RAAS inhibitors and IS, and 11 (14.9%) were followed up without treatment. During follow-up, glomerular filtration rate (GFR) decreased < 60 ml/min/1.73 m2 in 7 (9.5%) of 74 patients (M/F=6/1). In male patients with XLAS, kidney survival was not different between RAAS and RAAS+IS groups (p=0.42). The rate of progression to CKD was significantly higher in patients with nephrotic range proteinuria and nephrotic syndrome (NS), respectively (p=0.006, p=0.05). The median age at the onset of RAAS inhibitors was significantly higher in male patients who progressed to CKD (13.9 vs 8.1 years, p=0.003). CONCLUSIONS: RAAS inhibitors have beneficial effects on proteinuria and early initiation of therapy may delay the progression to CKD in children with XLAS. There was no significant difference between the RAAS and RAAS+IS groups in kidney survival. AS patients presenting with NS or nephrotic range proteinuria should be followed up more carefully considering the risk of early progression to CKD.


Asunto(s)
Nefritis Hereditaria , Insuficiencia Renal Crónica , Humanos , Masculino , Niño , Sistema Renina-Angiotensina/fisiología , Nefritis Hereditaria/tratamiento farmacológico , Nefritis Hereditaria/genética , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Inhibidores de la Enzima Convertidora de Angiotensina/farmacología , Estudios Retrospectivos , Insuficiencia Renal Crónica/tratamiento farmacológico , Proteinuria/tratamiento farmacológico , Terapia de Inmunosupresión
5.
Blood Press Monit ; 27(3): 208-211, 2022 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-35044984

RESUMEN

A genetic defect of 11 ß-hydroxysteroid dehydrogenase causes apparent mineralocorticoid excess syndrome. Since 50 days of life, our patient was hospitalized several times for various reasons including hypokalemia. At the age of 3.3 years, she was diagnosed with severe hypertension (160/120 mmHg). She also had left ventricular hypertrophy and hypertensive retinopathy and referred to our center. Her renal function and electrolytes were normal except for hypokalemia. She was on captopril treatment; nifedipine and propranolol were added. Plasma renin and aldosterone concentrations were 1.13 pg/ml (1-8.2 pg/ml) and 12.2 ng/dl (35-300 ng/dl), respectively. Severe hypertension, hypokalemia, low renin and aldosterone levels pointed to the diagnosis of apparent mineralocorticoid excess syndrome. Strict salt-restricted diet and potassium citrate were ordered. Genetic analysis of the HSD11B2 gene showed c.623G>A (p.Arg208His). Spironolactone was initiated. On follow-up, amiloride was added and her blood pressure was controlled. In patients with severe HSD11B2 mutation, combination therapy of spironolactone with amiloride could be effective in controlling blood pressure.


Asunto(s)
Hipertensión , Hipopotasemia , Síndrome de Exceso Aparente de Mineralocorticoides , Aldosterona , Amilorida , Presión Sanguínea , Preescolar , Femenino , Humanos , Hipertensión/tratamiento farmacológico , Hipertensión/etiología , Hipopotasemia/complicaciones , Hipopotasemia/etiología , Síndrome de Exceso Aparente de Mineralocorticoides/complicaciones , Síndrome de Exceso Aparente de Mineralocorticoides/diagnóstico , Síndrome de Exceso Aparente de Mineralocorticoides/genética , Renina , Espironolactona/uso terapéutico , Síndrome de Exceso Aparente de Mineralocorticoides
6.
Turk J Phys Med Rehabil ; 66(4): 459-467, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33364567

RESUMEN

OBJECTIVES: In this study, we aimed to evaluate the efficacy of kinesiotaping (KT) in patients with chronic non-specific neck pain (NSNP) in terms of pain, disability, cervical range of motion (ROM), and cervical lordosis. PATIENTS AND METHODS: Between October 2013 and March 2014, a total of 50 patients (10 males, 40 females; mean age 35.1±9.9 years; range, 17 to 62 years) with chronic NSNP were randomized into the KT (n=25) or the sham KT intervention (n=25) groups. Both groups were additionally given a therapeutic exercise (TE) program. The Visual Analog Scale (VAS) and Neck Disability Index (NDI) scores and ROM measurements were recorded at baseline, at the end of treatment, and at one month. Lateral cervical digital radiographs were analyzed by the Cobb, posterior tangent and effective lordosis methods at baseline and at one month after the treatment. RESULTS: There was a statistically significant decrease in the VAS scores compared to baseline in the KT group. The NDI scores significantly decreased in both groups. The patients in the KT group experienced a significant increase in all planes of cervical ROM after the treatment. Cervical radiographs revealed a significant increase in the Cobb and posterior tangent angles only in the KT group. CONCLUSION: Our study results suggest that KT significantly improves VAS, NDI scores, ROM and cervical lordosis angles. The combination of TE and KT is useful in reducing pain and disability and improving ROM and cervical lordosis loss in patients with chronic NSNP.

7.
Pediatr Nephrol ; 35(10): 1941-1952, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32394188

RESUMEN

BACKGROUND: Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined. Our study aimed to define clinical and genetic characteristics, establish genotype-phenotype correlations, and determine prognosis of AS in children. METHODS: A total of 87 children with AS from 10 pediatric nephrology centers, whom had genetic analyses performed at the Hacettepe University Nephrogenetics Laboratory between February 2017 and February 2019, were included. Data regarding demographics, family history, clinical and laboratory characteristics, histopathological and genetic test results, treatments, and yearly follow-up results were retrospectively analyzed. RESULTS: Of 87 patients, 16% presented with nephrotic syndrome. In patients with nephrotic syndrome, kidney biopsy findings showed focal segmental glomerulosclerosis (FSGS) in 79%, and COL4A3 mutations were the leading genetic abnormality (50%). Twenty-four percent of all patients progressed to chronic kidney disease (CKD). The rate of progression to CKD and the decline in the glomerular filtration rate of the patients with COL4A3 mutation were higher than other mutation groups (p < 0.001 and p = 0.04, respectively). In kidney survival analysis, nephrotic syndrome presentation, histopathology of FSGS, COL4A3 mutations, and autosomal recessive inheritance were found as independent risk factors for earlier progression to CKD. Cyclosporin A treatment did not improve kidney survival. CONCLUSIONS: We emphasize that genetic testing is important for patients suspected as having AS. Furthermore, COL4A mutations should be considered in patients with FSGS and steroid-resistant nephrotic syndrome. This approach will shed light on the prognosis of patients and help with definitive diagnosis, preventing unnecessary and potentially harmful medications. Graphical abstract.


Asunto(s)
Autoantígenos/genética , Colágeno Tipo IV/genética , Glomeruloesclerosis Focal y Segmentaria/epidemiología , Riñón/patología , Nefritis Hereditaria/genética , Insuficiencia Renal Crónica/epidemiología , Adolescente , Biopsia , Niño , Preescolar , Análisis Mutacional de ADN , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Estudios de Asociación Genética , Pruebas Genéticas , Glomeruloesclerosis Focal y Segmentaria/diagnóstico , Glomeruloesclerosis Focal y Segmentaria/genética , Glomeruloesclerosis Focal y Segmentaria/patología , Humanos , Masculino , Mutación , Nefritis Hereditaria/complicaciones , Nefritis Hereditaria/diagnóstico , Nefritis Hereditaria/patología , Pronóstico , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/genética , Insuficiencia Renal Crónica/patología , Estudios Retrospectivos
8.
Turk J Pediatr ; 58(2): 200-202, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27976562

RESUMEN

Venlafaxine is a selective serotonin noradrenaline reuptake inhibitor and commonly prescribed antidepressant in adults. Most patients overdosing with venlafaxine develop only mild symptoms. Severe toxicity is reported with the most common symptoms being CNS depression, serotonin toxicity, seizure, or cardiac conduction abnormalities. However, lactic acidosis is an uncommon adverse effect. Here, we present the first case in the literature reporting lactic acidosis due to venlafaxine overuse in an adolescent.


Asunto(s)
Acidosis Láctica/inducido químicamente , Inhibidores Selectivos de la Recaptación de Serotonina/envenenamiento , Clorhidrato de Venlafaxina/envenenamiento , Acidosis Láctica/tratamiento farmacológico , Adolescente , Sobredosis de Droga/tratamiento farmacológico , Femenino , Humanos
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