Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes.

One-month old breastfeeding infant, full-term birth, with normal anthropometric measurements at birth is referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presents dysmorphic features and heart disease. A metabolic study is conducted on blood and urine yielding results within normal parameters, except for renal concentration test and acidification test. At 6 months of age, patient presents overgrowth, which along with other clinical signs arouse suspicion of Sotos Syndrome. Molecular genetic testing detects heterozygous deletion in 5q35 between bands q35.2 and q35.3, affecting genes NSD1, SLC34A1 and FGFR4, which is compatible with this syndrome and with nephrocalcinosis as a rare association.

La importancia del sexo fetal en la ecografía morfológica: genitales ambiguos y disgenesia gonadal mixta / The importance of fetal sex in morphological ultrasound: ambiguous genitalia and mixed gonadal dysgenesis

La identificación del sexo fetal forma parte de la ecografía de segundo trimestre. En ocasiones se presentan anomalías genitales que no permiten definirlo adecuadamente, lo que se conoce como genitales ambiguos. La importancia de los mismos se debe a su asociación con desórdenes del desarrollo sexual, patologías más complejas y graves. En la mayoría de casos el diagnóstico y el manejo es postnatal, estando bien establecido. El diagnóstico prenatal, en cambio, es poco frecuente, limitado y menos conocido. Presentamos el caso de una gestante de 20 años con el hallazgo de genitales ambiguos en semana 29 y posteriormente se diagnosticó de disgenesia gonadal mixta (AU)

Fetal sex identification is a well-established part of the second trimester ultrasound. Sometimes there are genital abnormalities that prevent proper identification, called ambiguous genitalia. Its importance is based on its association with development sex disorders, a far more severe and complex diseases. In most of the cases, diagnosis and management are postnatal and well systematized. Prenatal diagnosis, however, is less frequent and more limited. We present the case of a 20 year old pregnant with a finding of ambiguous genitalia at 29 week and a diagnosis of mixed gonadal dysgenesis (AU)

Complicaciones mecánicas asociadas a la localización de la punta de catéteres centrales en una unidad neonatal / Catheter tip position and risk of mechanical complications in a neonatal unit

INTRODUCCIÓN: El uso de catéteres centrales (CC) está asociado a complicaciones mecánicas (CM). Nuestro objetivo fue conocer si la posición incorrecta de la punta se asociaba con mayor incidencia de CM. Material: Estudio descriptivo de 6 años en la UCIN del Hospital Universitario Santa Lucía de Cartagena. Se recogieron los CC, la indicación, el motivo de retirada, la posición en las pruebas de imagen, las CM y el tratamiento derivado. RESULTADOS: Se estudiaron 604 CC, la mayoría (347) de vena umbilical, epicutáneos (193) y de vena femoral (34). El 14,2% tuvo CM. La posición incorrecta de la punta se asoció a mayores CM (21,1 vs. 8,2%; p < 0,001), retirada por problemas mecánicos (8,4 vs. 3,1%; p < 0,01), extravasación (4,9 vs. 1,9%; p < 0,05), derrames pleurales y pericárdicos (1,4 vs. 0,0%; p < 0,05), hematomas hepáticos (4,6 vs. 0,6%; p < 0,01) y ascitis (2,8 vs. 0,0%; p < 0,01). Los epicutáneos medioclaviculares se asociaron a mayores CM (18,5 vs. 6,8%; p < 0,05) que los localizados en posición braquiocefálica (0 vs. 6,8%; NS) respecto a las localizaciones correctas. La posición baja o en ductus del catéter venoso umbilical se asoció a mayores CM respecto a la posición correcta (24,5 vs. 6%; p < 0,001. y 27 vs. 6%; p < 0,001). La complicación más frecuente fue la salida accidental. CONCLUSIONES: Las localizaciones incorrectas de la punta de los CC se asociaron a más CM. Los epicutáneos medioclaviculares tuvieron más riesgo que los localizados en cavas o braquiocefálicos. La posición baja o en ductus del catéter venoso umbilical se asoció a mayores CM

INTRODUCTION: The use of central catheters (CC) is associated with mechanical complications (MC). OBJECTIVE: Our objetive was to determine the relationship between CC positions and associated MC in neonates. Material: A descriptive analytical study was performed over a six year period in the NICU of the University Hospital Santa Lucía de Cartagena. Details were collected on the CC used, indication, reason for withdrawal, position in the imaging, MC, and treatment arising from them, as well as epidemiological data. RESULTS: Of the total of 604 CC studied, the majority (347) were via the umbilical vein, followed by epicutaneous (193), and femoral vein (34). There were MC in 14.2% of catheters. Incorrect position of the tip was associated with greater MC (21.1 vs 8.2%; P < .001), including withdrawal due to MC (8.4 vs 3.1%; P < .01), extravasation (4.9 vs 1.9%; P < .05), pleural and pericardial effusions (1.4 vs 0.0%; P < .05), liver haematomas (4.6 vs 0.6%; P < .01), and ascites (2.8 vs 0.0%; P < .01). The midclavicular epicutaneous position of the tip was associated with greater MC (18.5 vs 6.8%; P < .05) than the brachiocephalic (0 vs 6.8%;NS). The low and ductal position of the umbilical vein catheter was also associated with higher rates of MC (24.5 vs 6%; P < .001 and 27 vs 6%; P<.001) due to the position of the tip. The most common complication was accidentally dislodged catheter. CONCLUSIONS: The incorrect location of the tip was associated with more MC. The midclavicular epicutaneous had more risk than centrally or brachiocephalic locations. The low and ductal positions of the umbilical vein catheter were associated with higher rates of MC

Necesidad de reanimación en prematuros menores de 32 semanas expuestos a sulfato de magnesio para neuroprotección fetal / Need for resuscitation in preterm neonates less than 32 weeks treated with antenatal magnesium sulphate for neuroprotection

Introducción: El empleo de sulfato de magnesio para neuroprotección fetal es un tratamiento cada vez más frecuente. Objetivo: Estudiar la asociación entre sulfato de magnesio administrado a la gestante y la necesidad de reanimación neonatal. Pacientes y método: Estudio prospectivo de un grupo de prematuros menores de 32 semanas expuestos al sulfato de magnesio como neuroprotector y otro grupo retrospectivo inmediatamente anterior al inicio de este tratamiento. En ambos grupos se descartaron los casos que no habían recibido maduración pulmonar con corticoides. Se analizaron y compararon el porcentaje de reanimación y diferentes comorbilidades. Resultados: Se incluyó a 107 prematuros, 56 expuestos al sulfato de magnesio. El porcentaje de reanimación avanzada fue similar en ambos grupos. No se encontraron diferencias en mortalidad, ventilación mecánica invasiva, tiempo de la primera deposición y otras comorbilidades. Conclusiones: El sulfato de magnesio para neuroprotección no aumenta de forma significativa la necesidad de reanimación de los prematuros menores de 32 semanas.

Introduction: Magnesium sulphate administration is recommended for foetal neuroprotection in pregnant women at imminent risk of early preterm birth. Objective: To evaluate the relationship between intrapartum magnesium sulphate for foetal neuroprotection and delivery room resuscitation of preterm infants less 32 weeks. Patients and method: A prospective observational study was conducted on preterm infants less 32 weeks exposed to magnesium sulphate for neuroprotection, and a comparison made with another historic group immediately before starting this treatment. Cases in both groups that had not reached lung maturity with corticosteroids were rejected. The rates of resuscitation, morbidity and mortality for each of the groups were analysed and compared. Results: There was a total of 107 preterm, with 56 exposed to magnesium sulphate. Rate of advanced resuscitation were similar between the two groups. There were no other differences in mortality, invasive mechanical ventilation, time to first stool, and other comorbidities. Conclusions: Intrapartum magnesium sulphate for foetal neuroprotection was not associated with an increased need for intensive delivery room resuscitation and other morbidities in these cohorts of less than 32 weeks preterm infants.

[Need for resuscitation in preterm neonates less than 32 weeks treated with antenatal magnesium sulphate for neuroprotection]. / Necesidad de reanimación en prematuros menores de 32 semanas expuestos a sulfato de magnesio para neuroprotección fetal.

INTRODUCTION: Magnesium sulphate administration is recommended for foetal neuroprotection in pregnant women at imminent risk of early preterm birth. OBJECTIVE: To evaluate the relationship between intrapartum magnesium sulphate for foetal neuroprotection and delivery room resuscitation of preterm infants less 32 weeks. PATIENTS AND METHOD: A prospective observational study was conducted on preterm infants less 32 weeks exposed to magnesium sulphate for neuroprotection, and a comparison made with another historic group immediately before starting this treatment. Cases in both groups that had not reached lung maturity with corticosteroids were rejected. The rates of resuscitation, morbidity and mortality for each of the groups were analysed and compared. RESULTS: There was a total of 107 preterm, with 56 exposed to magnesium sulphate. Rate of advanced resuscitation were similar between the two groups. There were no other differences in mortality, invasive mechanical ventilation, time to first stool, and other comorbidities. CONCLUSIONS: Intrapartum magnesium sulphate for foetal neuroprotection was not associated with an increased need for intensive delivery room resuscitation and other morbidities in these cohorts of less than 32 weeks preterm infants.

[Catheter tip position and risk of mechanical complications in a neonatal unit]. / Complicaciones mecánicas asociadas a la localización de la punta de catéteres centrales en una unidad neonatal.

INTRODUCTION: The use of central catheters (CC) is associated with mechanical complications (MC). OBJECTIVE: Our objetive was to determine the relationship between CC positions and associated MC in neonates. MATERIAL: A descriptive analytical study was performed over a six year period in the NICU of the University Hospital Santa Lucía de Cartagena. Details were collected on the CC used, indication, reason for withdrawal, position in the imaging, MC, and treatment arising from them, as well as epidemiological data. RESULTS: Of the total of 604 CC studied, the majority (347) were via the umbilical vein, followed by epicutaneous (193), and femoral vein (34). There were MC in 14.2% of catheters. Incorrect position of the tip was associated with greater MC (21.1 vs 8.2%; P<.001), including withdrawal due to MC (8.4 vs 3.1%; P<.01), extravasation (4.9 vs 1.9%; P<.05), pleural and pericardial effusions (1.4 vs 0.0%; P<.05), liver haematomas (4.6 vs 0.6%; P<.01), and ascites (2.8 vs 0.0%; P<.01). The midclavicular epicutaneous position of the tip was associated with greater MC (18.5 vs 6.8%; P<.05) than the brachiocephalic (0 vs 6.8%;NS). The low and ductal position of the umbilical vein catheter was also associated with higher rates of MC (24.5 vs 6%; P<.001 and 27 vs 6%; P<.001) due to the position of the tip. The most common complication was accidentally dislodged catheter. CONCLUSIONS: The incorrect location of the tip was associated with more MC. The midclavicular epicutaneous had more risk than centrally or brachiocephalic locations. The low and ductal positions of the umbilical vein catheter were associated with higher rates of MC.