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1.
Pediatr Nephrol ; 2024 Oct 10.
Artículo en Inglés | MEDLINE | ID: mdl-39384646

RESUMEN

BACKGROUND: Cystic kidney disease is a heterogeneous group of hereditary and non-hereditary pathologic conditions, associated with the development of renal cysts. These conditions may be present both in children and adults. Cysts can even be observed already during the prenatal age, and pediatric patients with cysts need to be clinically monitored. An early clinical and genetic diagnosis is therefore mandatory for optimal patient management. The aim of this study was to perform genetic analyses in patients with echographic evidence of kidney cysts to provide an early molecular diagnosis. METHODS: A cohort of 70 pediatric patients was enrolled and clinically studied at the time of first recruitment and at follow-up. Genetic testing by clinical exome sequencing was performed and a panel of genes responsible for "cystic kidneys" was analyzed to identify causative variants. Sanger validation and segregation studies were exploited for the final classification of the variants and accurate genetic counseling. RESULTS: Data showed that 53/70 of pediatric patients referred with a clinical suspicion of cystic kidney disease presented a causative genetic variant. In a significant proportion of the cohort (24/70), evidence of hyper-echogenic/cystic kidneys was already present in the prenatal period, even in the absence of a positive family history. CONCLUSIONS: This study suggests that cystic kidney disease may develop since the very early stages of life and that screening programs based on ultrasound scans and genetic testing play a critical role in diagnosis, allowing for better clinical management and tailored genetic counseling to the family.

2.
BMC Vet Res ; 20(1): 354, 2024 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-39118117

RESUMEN

BACKGROUND: Despite the prevalence of echogenic foci floating in the urinary bladder seen in ultrasonography in dogs, surprisingly little has been written on its significance, including its potential association with urinalysis. The objective of the study was to determine the diagnostic value of the echogenic foci floating in urinary bladders in dogs. RESULTS: - Cystosonography was performed on 45 dogs. Bladder contents were examined and divided into positive (containing echogenic particles) and negative (absent echogenic particles) groups according to the presence and absence of floating echogenic particles. Five mL of urine was collected via cystocentesis. Urine analysis and culture were done and the relationship between ultrasound evaluation and urinalysis results was investigated. In dogs with bladder echogenic particles in ultrasonography, the prevalence of hematuria, pyuria, bacteriuria, and lipiduria were 88.9%, 92.6%, 29.6%, and 70.3%, respectively. However, in dogs in which echogenic particles were not observed in their bladders, the prevalence of hematuria, pyuria, bacteriuria, and lipiduria was 77%, 50%, 5.5%, and 77%, respectively. There was a significant association between bladder debris and positive urine culture, with an odds ratio of 7.15 (95% confidence interval: 0.81-63.28) compared with matched controls. Furthermore, there was a significant relationship between the presence of floating echogenic particles with pyuria, and urine color ( p ≤ 0.05). CONCLUSION: In conclusion, the present results showed the detection of bladder debris on ultrasound can be a predictor for pyuria and positive urine culture in dogs.


Asunto(s)
Bacteriuria , Enfermedades de los Perros , Piuria , Ultrasonografía , Vejiga Urinaria , Animales , Perros , Ultrasonografía/veterinaria , Enfermedades de los Perros/diagnóstico por imagen , Enfermedades de los Perros/orina , Vejiga Urinaria/diagnóstico por imagen , Masculino , Femenino , Piuria/veterinaria , Piuria/diagnóstico por imagen , Bacteriuria/veterinaria , Bacteriuria/diagnóstico por imagen , Hematuria/veterinaria , Hematuria/diagnóstico por imagen , Urinálisis/veterinaria
3.
BMC Pregnancy Childbirth ; 24(1): 662, 2024 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-39394069

RESUMEN

BACKGROUND: Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians. The diversity of underlying causes makes it challenging to confirm a prenatal diagnosis, predict postnatal outcomes, and counsel regarding recurrence risks in future pregnancies. CASE PRESENTATION: We report two cases of abnormal fetal echogenic kidneys with oligohydramnios detected in the early third trimester. Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic syndrome, was initially suspected in both cases. However, postnatal diagnoses differed: the first case was confirmed as glomerulocystic kidney disease (GCKD) through renal pathology, while the second case was diagnosed as ARPKD with a compound heterozygous likely pathogenic PKHD1 mutation. CONCLUSION: Prenatal diagnosis of fetal echogenic kidneys with oligohydramnios should prioritize accurate diagnosis. Given the differences in the clinical spectrum, GCKD should be considered a differential diagnosis for this condition, particularly ARPKD. This study highlights the importance and benefits of molecular diagnosis and postnatal renal pathology for precise diagnosis and effective counseling.


Asunto(s)
Riñón , Oligohidramnios , Riñón Poliquístico Autosómico Recesivo , Ultrasonografía Prenatal , Humanos , Femenino , Oligohidramnios/diagnóstico por imagen , Embarazo , Adulto , Riñón/anomalías , Riñón/diagnóstico por imagen , Riñón Poliquístico Autosómico Recesivo/diagnóstico por imagen , Riñón Poliquístico Autosómico Recesivo/complicaciones , Riñón Poliquístico Autosómico Recesivo/genética , Diagnóstico Diferencial , Mutación , Receptores de Superficie Celular
4.
Fetal Diagn Ther ; 51(2): 145-153, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37995667

RESUMEN

INTRODUCTION: The aim of this study was to use computerized analysis of the grayscale spectrum (histogram) to provide an objective assessment of the echogenicity of the fetal bowel. Moreover, we investigated the role of histogram analysis in the prenatal prediction of postnatal outcomes in fetuses with echogenic bowel (fetal echogenic bowel [FEB]). METHODS: This is a single-center retrospective study including all fetuses with a diagnosis of echogenic bowel (FEB) in the mid-second trimester between 2015 and 2021. Ultrasound images were analyzed using ImageJ software. The mean of the grayscale histograms of the bowel, liver, and iliac/femur bone was obtained for each patient, and the ratio between these structures was used to overcome gain variations. We compared these values with those of a matched control group of singleton uncomplicated pregnancies and with a group of patients referred for FEB, where the FEB was not confirmed by the expert operator (FEB false-positive). RESULTS: There was a statistically significant difference between bowel/liver and bowel/bone histogram ratios between the FEB group and the control groups (p < 0.05). Mean ratio cutoffs were provided for the diagnosis of FEB. Among the patients with confirmed FEB, both ratios were not able to discriminate the cases with adverse outcomes. In contrast, the presence of dilated bowel or other markers was associated with an adverse outcome. CONCLUSIONS: Histogram analysis may refine the diagnosis of FEB and reduce the number of false-positive diagnoses. For the prediction of the fetal outcome, the presence of additional features is clinically more significant than the degree of bowel echogenicity.


Asunto(s)
Intestino Ecogénico , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Feto/diagnóstico por imagen , Ultrasonografía
5.
J Clin Ultrasound ; 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39212092

RESUMEN

OBJECTIVE: The purpose of the current study was to determine the difference in intestinal microbiota after delivery between healthy fetuses and fetuses with hyperechogenic bowel during the second trimester and the relationship between fetal echogenic bowel and microbiota. METHODS: Fourteen healthy fetuses (control group), 13 fetuses with echogenic bowel (EB group), and seven fetuses with echogenic bowel and other abnormalities (C-EB group) were selected. The first meconium after delivery was collected for 16S rRNA sequencing. RESULTS: A total of 1 222 131 high-quality sequences were generated after sequencing optimization of all samples. Each sample contained an average of 35 945 high-quality sequences and 2036 operational taxonomic units (OTUs). There was no significant difference in the Shannon, Simpson index among the three groups. At the genus level, the abundance of Escherichia coli/Shigella in the EB and C-EB groups was significantly lower than the control group, while the abundance of Staphylococcus, Methylobactrium, and Curvibacter in the EB group was significantly higher than the other groups. There was a difference in abundance of Gammaproteobacteria, Fusobacteria, Enterobacteriaceae, and E. coli in the EB and C-EB groups. CONCLUSIONS: The formation of echogenic bowel may be related to the microbiota.

6.
Pediatr Nephrol ; 38(5): 1513-1521, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36227436

RESUMEN

BACKGROUND: Cystinuria is an inherited metabolic disease involving the defective transport of cystine and the dibasic amino acids in the renal proximal tubules that causes the formation of stones in the urinary system. In our regional child health program, cystinuria is included in newborn metabolic screening. Our objectives are the phenotypic characterization of our cystinuric pediatric cohort and to present our experience in neonatal cystinuria screening. METHODS: The study of clinical cases of pediatric patients diagnosed with cystinuria over a period of 32 years. All patients were studied at demographic, clinical, laboratory, radiological, and therapeutic levels. RESULTS: We diagnosed 86 pediatric patients with cystinuria; 36% of them had the homozygous biochemical phenotype. 95.3% of the patients were detected by neonatal metabolic screening. We performed urine biochemical analyses of parents with additional diagnoses of 63 adult patients. The mean follow-up time was 16.8 ± 8.5 years. 11.6% of patients developed one or more episodes of urinary tract infection during that period. Chronic kidney disease, proteinuria, and hypertension were uncommon (1.2%). 10.5% developed kidney stones at the mean age of presentation of 7.78 ± 7.6 years; 33% were recurrent. The risk of developing lithiasis was higher for homozygous biochemical-phenotype patients. Hypercalciuria was a significant risk factor in the development of lithiasis. CONCLUSIONS: Our clinical data suggest that diagnosing cystinuria through neonatal screening could be a useful strategy for the detection of presymptomatic cases, in order to establish preventive measures, as well as for the detection of relatives at risk. A higher resolution version of the Graphical abstract is available as Supplementary information.


Asunto(s)
Cistinuria , Cálculos Renales , Litiasis , Humanos , Recién Nacido , Cistinuria/diagnóstico , Cistinuria/genética , Cistinuria/terapia , Tamizaje Neonatal , Cálculos Renales/diagnóstico , Cálculos Renales/epidemiología , Fenotipo
7.
BMC Anesthesiol ; 23(1): 369, 2023 11 10.
Artículo en Inglés | MEDLINE | ID: mdl-37950214

RESUMEN

BACKGROUND: Needle visualization is essential to avoid vascular puncture and nerve injury in ultrasound-guided regional anesthesia. Several factors that statistically influence needle visibility have been described but the dimensions of their individual impact remain unclear. This study aimed to quantify the impact of various independent factors on ultrasound needle visibility. METHODS: A total of 1500 ultrasound videos of in-plane needle insertions were obtained in embalmed cadavers with ten different commercially available echogenic and non-echogenic needles at different insertion angles and bevel orientations in a full factorial study design. The visibility of needle tip and shaft were rated as "good" or "poor" visibility. Nominal logistic regression analyses were calculated for the visibility of the needle tip and shaft. RESULTS: SonoPlex Stim Sprotte, SonoTAP Facet (needle tip and shaft) and Spinostar PencilPoint (needle tip)), insertion angle and bevel orientation were associated with good ultrasound visibility, reaching statistical significance (p < 0.05). The range of the effect on the log-odds scale for needle tip visibility was largest for the insertion angle with 6.33, followed by the tissue condition (3.76), bevel orientation (1.45) and the needle types (1.25). Regarding the needle shaft visibility, the largest effect range was observed with the insertion angle (7.36), followed by the tissue conditions with 3.96, needle type (1.86) and bevel orientation (0.95). CONCLUSION: In-plane needle visibility in ultrasound images depends mainly on the insertion angle, as expected. This is closely followed by the tissue condition, which is a factor related to the patient, thus cannot be altered to improve needle visibility. In the dimensions of the log-odds scale, the choice of a specific needle is far less important towards achieving a good visualization, whereas optimizing the bevel orientation can have a larger impact than the needle choice. Concluding from the relative dimensions of factors that determine needle visibility in this model, the importance of needles with echogenic features may be overrated.


Asunto(s)
Anestesia de Conducción , Ultrasonografía Intervencional , Humanos , Ultrasonografía Intervencional/métodos , Modelos Logísticos , Ultrasonografía/métodos , Anestesia de Conducción/métodos , Agujas , Cadáver
8.
J Clin Ultrasound ; 51(7): 1172-1178, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37553773

RESUMEN

Echogenic fetal bowel (EB) is a prenatal ultrasound finding (0.2%-1.4% of all pregnancies) defined as bowel of similar or greater echogenicity than surrounding bone. In fact, the ultrasound assessment is strongly subjective with inter-observer variability. The pathophysiology depends on the underlying condition, apparently related with meconium stasis and hypercellularity. It is often an isolated finding, with possible association with other structural anomalies. About the origin, it was observed in fetuses with cystic fibrosis, congenital infections, thalassemia, intraamniotic bleeding, fetal growth restriction. Fetuses with EB are at increased risk of adverse perinatal outcome, such as intrauterine growth restriction, placental dysfunction and perinatal death, highlighting the need for a thorough antenatal management and post-natal follow-up. It seems to be associated with a plenty of conditions, such as a poor fetal outcome, fetal growth restriction and placental dysfunction. Therefore management requires a multidisciplinary approach with different specialties' involvement and the prognosis is influenced by the underlying pathophysiology. In this complex scenario, the present review aims to define the clinical pathway which should be offered to pregnant women in case of finding of fetal EB ultrasound marker, to rule out any suspected pathological cause.


Asunto(s)
Intestino Ecogénico , Resultado del Embarazo , Embarazo , Femenino , Humanos , Retardo del Crecimiento Fetal/diagnóstico por imagen , Ultrasonografía Prenatal , Placenta/diagnóstico por imagen , Diagnóstico Prenatal , Feto
9.
Rev Med Liege ; 78(2): 74-78, 2023 Feb.
Artículo en Francés | MEDLINE | ID: mdl-36799323

RESUMEN

Congenital high airway obstruction syndrome is a rare malformation whose prognosis is very poor resulting in foetal or perinatal death if no perinatal intervention is performed. However, ultrasound and magnetic resonance enable an accurate prenatal diagnosis and optimal choice of interventional foetal medicine techniques (transtracheal puncture, fetoscopy). These approaches reduce foetal side effects related to the pathological process, and avoid the mother ex utero intrapartal treatment and its deleterious effects. If it becomes indispensable ex utero intrapartal treatment allows optimal management of the new born by securing the foetal airways while minimizing risk for hypoxic damage through the maintenance of maternal-foetal circulation. We present the story of a couple with a suspected case of CHAOS at 21 weeks of amenorrhea, the diagnostic and the management until the birth of the child.


Le syndrome d'obstruction congénitale des voies respiratoires supérieures est une malformation rare dont le pronostic est très péjoratif sans intervention périnatale, entraînant un décès in utero ou à la naissance. L'échographie et la résonance magnétique nucléaire permettent de poser un diagnostic prénatal précis et de choisir les techniques de médecine fœtale interventionnelle les mieux adaptées (ponction trachéale sous contrôle échographique, reperméabilisation sous fœtoscopie). Ces approches réduisent les effets secondaires fœtaux liés au processus pathologique, et évitent à la mère le traitement intrapartal ex utero et ses effets délétères. S'il devient indispensable, le traitement intrapartal ex utero permet une prise en charge optimale du nouveau-né en sécurisant ses voies respiratoires, tout en minimisant les dommages hypoxiques, grâce au maintien de la circulation materno-foetale. Nous présentons l'histoire d'un couple confronté à une suspicion de CHAOS à 21 semaines d'aménorrhée, le parcours diagnostique et la prise en charge jusqu'à la naissance de l'enfant.


Asunto(s)
Obstrucción de las Vías Aéreas , Ultrasonografía Prenatal , Embarazo , Femenino , Niño , Humanos , Diagnóstico Prenatal , Obstrucción de las Vías Aéreas/diagnóstico , Obstrucción de las Vías Aéreas/etiología , Obstrucción de las Vías Aéreas/terapia , Feto/patología , Imagen por Resonancia Magnética
10.
BMC Nephrol ; 23(1): 108, 2022 03 17.
Artículo en Inglés | MEDLINE | ID: mdl-35300603

RESUMEN

BACKGROUND: After kidney transplantation neurologic manifestations may develop, including Parkinson's disease (PD). An enlarged substantia nigra (SN) by transcranial sonography has been recognized as a marker of PD. METHODS: In renal transplant recipients (RTRs = 95) and controls (n = 20), measurement of mesencephalon, SN, third ventricle, spleen and carotid intima-media thickness (cIMT) and middle cerebral artery (MCA), kidney and spleen arteries Doppler resistive index (RI) were performed. RESULTS: RTRs had larger SN, third ventricle and cIMT and higher renal RI than controls. The SN was larger in the CNIs group than in controls and rapamycin group, while the third ventricle was similar between patients but larger than in controls. In RTRs, SN showed a direct linear correlation with spleen and the third ventricle with age, cIMT and RI of the MCA, kidney and spleen. In CNIs group the SN correlated positively with age and cIMT, while the third ventricle reproduced RTRs correlations. Rapamycin group showed a direct linear relationship between the third ventricle and age and RI of the MCA, kidney and spleen; SN showed no correlations. CONCLUSION: RTRs on CNIs present a larger SN area than on rapamycin, probably due to the antiproliferative effect of rapamycin. This finding might be relevant when interpreting TCS in RTRs.


Asunto(s)
Trasplante de Riñón , Enfermedad de Parkinson , Inhibidores de la Calcineurina , Grosor Intima-Media Carotídeo , Humanos , Trasplante de Riñón/efectos adversos , Sirolimus , Sustancia Negra/diagnóstico por imagen , Ultrasonografía Doppler Transcraneal
11.
J Ultrasound Med ; 41(2): 311-325, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33870532

RESUMEN

Optimal visualization of needles in clinical ultrasound imaging is important and challenging, especially at steep angles. Improvement of visualization has been attempted with various techniques, for example, coatings and dimples. This systematic review summarizes enhancement techniques and identifies superior echogenic surface enhancements. Twenty-four papers were identified providing visibility measures for 33 different echogenic needles. These were grouped according to surface characteristics and ranked. Echogenic needles ranked higher than standard needles especially at steeper angles. Among the echogenic needles, coated needles were seemingly better visualized "in vivo" than noncoated needles, despite heterogeneity in study conditions. No unambiguous comparison revealed which needle was best visualized.


Asunto(s)
Agujas , Ultrasonografía Intervencional , Humanos , Ultrasonografía
12.
J Ultrasound Med ; 41(10): 2567-2575, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35043978

RESUMEN

OBJECTIVES: There has been controversy on how frequently small echogenic masses are angiomyolipomas (AMLs) versus renal cell carcinoma (RCC) and how best to manage these echogenic masses. We performed this study to determine the etiologies of echogenic renal masses and compare them with prior publications to reach possible management decisions. METHODS: This is a retrospective chart review of all consecutive renal ultrasound examinations performed at our institution between January 2015 and December 2016, with an ultrasound report finding containing the wording "echogenic" and "mass." This yielded 6462 total examinations. A total of 107 echogenic lesions met inclusion and exclusion criteria with correlative computed tomography, pathology, or long-term (>5 years) follow-up ultrasound. These lesions were stratified into those that were ≤2 cm and those that were >2 cm. RESULTS: Almost all masses were benign, with the majority (79/107) being AMLs (73.8%); 64 of the 79 (81%) of the AMLs were in female patients. Two of the 107 masses were RCCs, and 1 mass was an oncocytic neoplasm. There were 77 of the masses that were ≤2 cm and these masses were benign except for one lesion of an oncocytic neoplasm. There were 30 of the 107 masses >2 cm, with 2 of the 30 (6.7%) being RCCs. CONCLUSIONS: Incidental echogenic renal masses are most commonly AMLs. However, some masses may be RCCs. In comparing our results with the prior literature, we feel that small echogenic renal masses ≤1 cm usually require no further evaluation, while masses greater than that size require other imaging.


Asunto(s)
Angiomiolipoma , Carcinoma de Células Renales , Neoplasias Renales , Angiomiolipoma/diagnóstico por imagen , Carcinoma de Células Renales/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Humanos , Neoplasias Renales/diagnóstico por imagen , Estudios Retrospectivos
13.
J Ultrasound Med ; 41(5): 1237-1245, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-34415647

RESUMEN

OBJECTIVES: To assess the diagnostic value of echogenic foci in papillary thyroid carcinoma (PTC) and the relationship between echogenic foci and aggressiveness of PTC. METHODS: From January 2018 to January 2021, a total of 950 patients diagnosed with thyroid nodules (n = 1113) in our hospital were retrospectively analyzed. Among the 1113 nodules, single PTC in 527 patients confirmed by surgery was studied for their aggressive biological behavior. The patterns of echogenic foci were classified as: no echogenic foci, sparse punctate echogenic foci, focal punctate echogenic foci, diffuse punctate echogenic foci, petal-like punctate echogenic foci, comet-tail artifacts, coarse echogenic foci, peripheral rim (eggshell echogenic foci), and mixed echogenic foci. The clinical and ultrasonographic characteristics were also analyzed. A univariate analysis was performed, and binary logistic regression was performed to screen independent risk factors. RESULTS: For the differential diagnosis of PTC, age < 50 years, size <1.1 cm, hypoechoic or very hypoechoic, aspect ratio > 1, irregular shape, types II (punctate echogenic foci) and VI (mixed echogenic foci) were independent risk factors. For the aggressive biological behavior of PTC, male sex, age<42 years, size <1.0 cm, types IIb (focal punctate echogenic foci), IIc (diffuse punctate echogenic foci), and VI (mixed echogenic foci) were independent risk factors for predicting cervical lymph node metastasis of PTC. CONCLUSION: Echogenic foci are useful in diagnosing PTC and predicting aggressiveness of PTC, which contribute to screening invasive PTC and avoiding overdiagnosis and overtreatment.


Asunto(s)
Neoplasias de la Tiroides , Nódulo Tiroideo , Adulto , Humanos , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Cáncer Papilar Tiroideo/diagnóstico por imagen , Cáncer Papilar Tiroideo/patología , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/patología , Ultrasonografía
14.
J Obstet Gynaecol ; 42(5): 1149-1154, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35142237

RESUMEN

Natural iron-rich mineral water (IRMW) is a supplement with a higher iron bioavailability than oral iron supplement tablets. Five (4%) of 116 women who consumed IRMW starting from 16 weeks of gestation were diagnosed as having isolated foetal echogenic bowel at a single community maternity clinic between 2012 and 2015. The workup of all the women was otherwise negative. Four women taking IRMW were re-checked after discontinuation of the supplement and had a normal-appearing foetal bowel. Our observations suggest that isolated echogenic bowel may be related to the consumption of IRMW, possibly due to the high absorption of iron, leading to the coating of the internal wall of the foetal bowel and subsequent appearance of an echogenic bowel. Although this finding appears free of harmful ramifications, its possible sonographic effects on the appearance of the foetal bowel should be considered in light of the increasing popularity of IRMW use.IMPACT STATEMENTWhat is already known on this subject? IRMW is a highly absorbed iron supplement. The differential diagnosis for foetal echogenic bowel is broad and requires thorough investigation. Iron is secreted through the maternal blood to the amniotic fluid, which is swallowed by the foetus, reaching its bowel.What do the results of this study add? IRMW consumption is a possible aetiology of an isolated foetal echogenic bowel in the second half of pregnancy, conveying no risk of foetal morbidity or mortality.What are the implications of these findings for clinical practice and/or further research? In light of the increasing popularity of IRMW, we believe that it is important to increase the level of awareness of the possible effects of its intake on the sonographic appearance of the foetal bowel.


Asunto(s)
Intestino Ecogénico , Aguas Minerales , Líquido Amniótico/diagnóstico por imagen , Femenino , Humanos , Hierro , Embarazo , Ultrasonografía Prenatal
15.
Am J Obstet Gynecol ; 224(5): 516.e1-516.e16, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33122027

RESUMEN

BACKGROUND: Soft markers are nonspecific findings detected by ultrasonography during the second trimester that are often transient and nonpathologic but may imply an increased risk of underlying fetal aneuploidy. However, large-scale prospectively stratified studies focusing on the prevalence of chromosomal aberrations, including copy number variants, in fetuses with different types of isolated soft markers have rarely been published in the literature. OBJECTIVE: This study aimed to investigate clinical outcomes in fetuses with isolated soft markers by single nucleotide polymorphism array with long-term follow-up and to propose a diagnostic algorithm based on specific types of soft markers. STUDY DESIGN: The prevalence of fetal isolated soft markers was 13.2% (7869 of 59,503). A total of 2466 fetuses with ultrasonographic soft markers during the second trimester, which were subjected to single nucleotide polymorphism array with long-term follow-up, were selected in this prospective study over a 5-year period. Soft markers were categorized into 12 groups. The demographic profile and chromosomal microarray analysis detection results were analyzed and compared among different groups. RESULTS: The overall prevalence of chromosomal aberrations in fetuses with soft markers was 4.3% (107 of 2466), which comprised 40.2% with numeric chromosomal abnormalities, 48.6% with pathogenic copy number variants, and 11.2% with likely pathogenic copy number variants. The incidence of numeric chromosomal abnormalities was significantly higher in multiple soft markers (5.5% vs 1.5%; P=.001) and the thickened nuchal fold group (8.3% vs 1.7%; P=.024). Meanwhile, the incidence of pathogenic copy number variants was significantly higher in multiple soft markers (5.5% vs 2.4%; P=.046) and the short femur length group (6.6% vs 2.2%; P<.0001). The incidences of pathogenic copy number variants in fetuses with isolated echogenic intracardiac focus, enlarged cisterna magna, choroid plexus cysts, echogenic bowel, or single umbilical artery were lower than 1.5%. The normal infant rate in fetuses without chromosomal aberrations was 91.7%; however, it was significantly lower in the mild ventriculomegaly (86.2% vs 93.0%; P<.0001) and short femur length groups (71.4% vs 93.6%; P<.0001). CONCLUSION: The potential chromosomal aberrations and clinical prognoses varied widely among different types of isolated soft markers. Pathogenic copy number variants are more often present in specific soft markers, especially when multiple soft markers are found. Thus, a specific soft marker type-based prenatal genetic testing algorithm was proposed.


Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos , Anomalías Congénitas/diagnóstico por imagen , Anomalías Congénitas/genética , Variaciones en el Número de Copia de ADN , Ultrasonografía Prenatal , Adolescente , Adulto , Algoritmos , Femenino , Estudios de Seguimiento , Pruebas Genéticas , Humanos , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Embarazo , Segundo Trimestre del Embarazo , Estudios Prospectivos , Adulto Joven
16.
AJR Am J Roentgenol ; 216(2): 479-485, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33295817

RESUMEN

OBJECTIVE. Using the American College of Radiology (ACR) Thyroid Imaging Reporting and Data System (TI-RADS), this study sought to determine whether decreasing the point assignment for punctate echogenic foci in mixed solid and cystic nodules would reduce the number of benign mixed solid and cystic nodules that were biopsied and would not substantially increase the number of missed mixed carcinomas MATERIALS AND METHODS. A multiinstitutional database of 3422 pathologically proven thyroid nodules was evaluated to identify all mixed solid and cystic nodules with punctate echogenic foci. We determined the numbers of mixed benign and malignant nodules that would receive ACR TI-RADS recommendations of fine-needle aspiration, follow-up, and no further evaluation if the points assigned to punctate echogenic foci were changed from 3 points to 1 or 2 points. RESULTS. A total of 287 mixed nodules were adequately characterized for evaluation. When the number of points assigned to punctate echogenic foci was changed from 3 points to 1 point, the point categories changed for 198 mixed nodules. Seven carcinomas would not undergo biopsy, but six of those seven would receive follow-up, and 44 benign nodules would not undergo biopsy. When 2 points were assigned to punctate echogenic foci, the point categories changed for 66 mixed nodules. Three carcinomas would not undergo biopsy, but all three of these would receive follow-up, and eight benign nodules would not undergo biopsy. CONCLUSION. Consideration should be given to decreasing the number of points assigned to punctate echogenic foci in mixed solid and cystic thyroid nodules, given the substantial decrease in the number of benign nodules requiring biopsy and the recommendation of follow-up for any carcinoma 1 cm or larger that did not undergo biopsy.


Asunto(s)
Carcinoma/diagnóstico , Nódulo Tiroideo/diagnóstico por imagen , Nódulo Tiroideo/patología , Ultrasonografía , Biopsia con Aguja Fina , Humanos , Sistemas de Información Radiológica , Reproducibilidad de los Resultados , Estudios Retrospectivos
17.
Skin Res Technol ; 27(5): 966-973, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33788312

RESUMEN

INTRODUCTION: High-frequency ultrasound skin imaging analysis (HFUS) is a non-invasive technique that allows a unique approach to the analysis of skin aging, as well as in evaluating the effectiveness of dermatological and cosmetic products, especially for skin rejuvenation. OBJECTIVE: To describe the impact of skin aging and different anti-aging strategies from the perspective of high-frequency ultrasound. METHODS: A bibliographic survey was carried out, selecting relevant articles that evaluated the characterization of the skin features from different points of view such as gender (male and female), age (young skin and mature skin), and ethnicity, in addition to individual variations between body regions and daily variations. RESULTS: Some studies also evaluated the impact of cosmetic treatments and esthetic procedures in the skin. Parameters such as dermal thickness, echogenicity, skin texture, and subepidermal low-echogenic band (SLEB) were analyzed. It can be concluded that there is a trend, although not unanimous in the consequences of aging on the skin, being different between men and women, plus the individual nuances resulted from each one's lifestyle and exposure to the sun. CONCLUSION: As for the technique, it is concluded that high-frequency ultrasound is an important evaluative alternative for dermatological studies and the effectiveness of anti-aging products and treatments.


Asunto(s)
Envejecimiento de la Piel , Envejecimiento , Estética , Femenino , Humanos , Masculino , Piel/diagnóstico por imagen , Ultrasonografía
18.
Skin Res Technol ; 26(4): 482-488, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31930616

RESUMEN

BACKGROUND: Atopic dermatitis (AD) is one of the most common allergic diseases in children. The aim of the study was to evaluate the ultrasound picture of lesional and non-lesional skin in children with AD. MATERIALS AND METHODS: The study included a group of children with AD and a control group. Inclusion criteria were as follows: age 0-8 years and clinical diagnosis of AD. An ultrasound scanner with a 75 MHz transducer probe was used to produce B-mode skin images in lesions and non-lesional skin. The thickness and the echogenicity of epidermis, dermis, and subepidermal low-echogenic band (SLEB) were measured, and the ratio coefficient per body site was calculated. RESULTS: Ultrasonography of non-lesional skin in children with AD showed uneven epidermis contour, a tendency to increased epidermis and decreased dermis thickness, and the SLEB was observed in 77% of cases. In lesions, there was an increased thickness and a decreased echogenicity of epidermis and dermis, and epidermis had irregular contours in most cases. The SLEB was in all lesions, showing greater thickness and lower echogenicity compared with non-lesional skin. CONCLUSION: HF-USG of the skin allows visualizing the epidermal barrier disruption and inflammation in dermis in children with AD on the entire surface of the skin.


Asunto(s)
Dermatitis Atópica , Eccema , Niño , Preescolar , Dermatitis Atópica/diagnóstico por imagen , Dermatitis Atópica/patología , Eccema/diagnóstico por imagen , Eccema/patología , Epidermis/diagnóstico por imagen , Epidermis/patología , Humanos , Lactante , Recién Nacido , Piel/diagnóstico por imagen , Piel/patología , Ultrasonografía
19.
Breast J ; 26(4): 643-652, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31512794

RESUMEN

Hyperechogenicity in the breast on ultrasound (US) is usually regarded as a benign feature with only rare hyperechoic malignancies reported to date. In this study, we evaluated the pathologic findings on core needle biopsy of hyperechoic lesions and investigated the histologic features in malignancies that give rise to an echogenic pattern. A total of 163 core needle biopsies (CNB) were performed for "hyperechoic" or "echogenic" lesions between 1/1/05 and 7/31/17. Lesions were classified based on the proportion of hyperechoic areas identified. We found that all lesions with a homogenous hyperechoic pattern (>90% hyperechoic) were benign (n = 17), regardless of the type of margins. Malignancies were found in 21% (7/34, six invasive carcinomas and one lymphoma) of heterogenous lesions with ≥50% hyperechoic areas (all with noncircumscribed margins) and in 31% of lesions with <50% hyperechoic areas (19/61, 14 invasive carcinomas, two lymphomas, and three metastases), including five with circumscribed margins (one invasive carcinoma, one lymphoma, and three metastases). Two major US patterns were identified in malignant lesions, those with a hypoechoic center and hyperechoic rim, corresponding to a central tumor area with dense stroma and tumor cells infiltrating adipose tissue at the periphery ("rim pattern"), and a second "dispersed pattern" with hyperechoic areas distributed throughout the lesion. Hyperechoic malignancies were found to be comprised of a complex intermixture of elements of differing echogenicity including tumor cells, adipose tissue, and fluid (in tubules, stromal clefts, or blood vessels). Our findings support the importance of radiologists specifying the echogenic pattern of hyperechoic lesions, as heterogenous lesions are associated with a higher risk of malignancy and pathologists should be alert to the associated pathologic findings.


Asunto(s)
Neoplasias de la Mama , Carcinoma , Mama , Neoplasias de la Mama/diagnóstico por imagen , Femenino , Humanos , Estudios Retrospectivos , Ultrasonografía , Ultrasonografía Mamaria
20.
Fetal Diagn Ther ; 47(3): 171-181, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31593968

RESUMEN

Although relatively uncommon, the incidence of fetal echogenic lung lesions - a heterogeneous group of anomalies that includes congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestrations (BPS) - has increased recently. Two decades ago, the CPAM-volume ratio (CVR) was first described as a tool to predict the development of hydrops, with this outcome found to be unlikely in fetuses with CVRs of ≤1.6 cm2. Since then, no clear international consensus has evolved as to the optimal CVR thresholds for the prediction of fetal/neonatal outcomes. This systematic review aimed to assess all original research studies that reported on the predictive utility of the CVR. Potentially relevant papers were identified through searching for citations of the paper that originally described the CVR, in addition to keyword searches of electronic databases. Fifty-two original research papers were included in the final review. Of these, 34 used the CVR for descriptive purposes only, 5 assessed the validity of established thresholds in different populations, and 13 proposed new thresholds. The evidence identified in this review would suggest that a threshold much lower than 1.6 cm2 is likely to be of greater utility in most populations for many outcomes of perinatal relevance. For neonatal outcomes (mostly respiratory compromise at birth), a CVR on the initial ultrasound scan ranging from 0.5 to 1.0 cm2 appears to have the greatest predictive value. Although a number of studies concurred that 1.6 cm2 was a useful threshold for the prediction of hydrops, many others were unable to assess this due to the rarity of this complication. For this reason, thresholds as low as 0.4 cm2 may be more useful for the prediction of a broader range of fetal concerns, including mediastinal shift and fluid collections. Further large-scale studies are required to determine the true utility of this well-established index.


Asunto(s)
Secuestro Broncopulmonar/diagnóstico por imagen , Pulmón/anomalías , Ultrasonografía Prenatal/métodos , Humanos , Pulmón/diagnóstico por imagen
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