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1.
Eur J Clin Invest ; 54(4): e14141, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38071415

RESUMEN

BACKGROUND/AIM: Late vitamin K deficiency bleeding (VKDB) during early infancy is a serious problem worldwide. Vitamin K (VK) deficiency commonly occurs in newborns who are exclusively breastfed. Protein Induced by VK Absence (PIVKA-II) has been identified as an early indicator of subclinical VK deficiency in neonates, surpassing prothrombin time. To assess PIVKA-II levels at 48 h, 1 and 3 months of age in full-term newborns who were exclusively breastfed and received varying VKDB prophylaxis regimens. METHODS: A prospective observational study was conducted in four hospitals, enrolling 105 newborns. PIVKA-II levels were measured using a sandwich-type enzyme-linked immunosorbent assay. RESULTS: At 48 h of age, there was no significant difference in PIVKA-II concentrations between newborns who received intramuscular administration of 1 mg of phylloquinone (VK1) and those who received oral administration of 2 mg of VK1 at birth. At 1 and 3 months of life, infants who received any supplementation regimen between 2 and 14 weeks exhibited significantly lower PIVKA-II concentrations compared to infants who received only 1 mg of intramuscular VK1 at birth. The prophylaxis involving a dose of 1 mg of intramuscular VK1 at birth followed by oral administration of 150 µg/day of VK1 from the 2nd to the 14th week of life showed the lowest PIVKA-II blood concentrations. CONCLUSIONS: Oral supplementation of VK1 after discharge significantly reduced PIVKA-II concentrations in exclusively breastfed term infants. These findings suggest the importance of oral VK1 supplementation in exclusively breastfed infants during their first 3 months of life to avoid the risk of VK insufficiency.


Asunto(s)
Sangrado por Deficiencia de Vitamina K , Vitamina K , Lactante , Femenino , Recién Nacido , Humanos , Protrombina/metabolismo , Precursores de Proteínas , Biomarcadores/metabolismo , Vitamina K 1 , Sangrado por Deficiencia de Vitamina K/prevención & control
2.
Minerva Pediatr (Torino) ; 75(6): 884-889, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34152109

RESUMEN

BACKGROUND: The use of simulation-based medical education is strongly recommended to insure neonatal resuscitation skills for health caregivers. High fidelity simulation was executed to allow the evaluation of technical and non-technical skills. Salivary cortisol level was considered reliable biomarkers of adrenocortical activity and useful tool to learning assessment and stress response. METHODS: Our primary aim was to test changes in salivary cortisol levels before and after the simulation for neonatal resuscitation between high and low fidelity setting. Secondary aim was to evaluate salivary cortisol level in the participants, leader and not leader. Fifty-two health care providers were divided in ratio 1:1 into low-fidelity (LF group) and high-fidelity scenario (HF group) of neonatal resuscitation. In each group the participants assumed the role of team leader or not team leader. Salivary samples were collected from all participants 5 minutes before and after each simulation scenario by using oral swab. Analysis of difference was analyzed by Kruskal Wallis Test. RESULTS: Salivary cortisol levels were significantly higher in HF group (N.=26) than LF group (N.=26) before the performance (5.407 mmol/L vs. 3.090 mmol/L; P=0.018). In the HF group, salivary cortisol levels were significantly lower after simulation than before (P=0.007), moreover not team leader showed higher salivary cortisol levels before of the simulation than after (P=0.003). Team leaders showed higher salivary cortisol levels than not team leader after high-fidelity scenario (P=0.039). CONCLUSIONS: High-fidelity simulation scenario had a great impact on stress level, furthermore leaders showed higher salivary cortisol levels than not team leaders.


Asunto(s)
Competencia Clínica , Hidrocortisona , Humanos , Recién Nacido , Resucitación/educación , Simulación por Computador , Personal de Salud/educación
3.
J Perinatol ; 40(10): 1462-1469, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32632198

RESUMEN

The COVID-19 pneumonia was firstly reported in Wuhan, China, in December 2019. The disease had a rapid spread all over the word becoming an international public health emergency. Limited data were available on COVID-19 positive neonates. We reviewed relevant literature to understand the clinical course of disease and transmission routes in affected neonates. The aim of the study was evaluating the clinical course and prognosis of SARS-CoV-2 positive neonates. Based on current literature, the hypothesis of vertical transmission of SARS-CoV-2, though conceivable, remains unproven. A research conducted on PubMed database from December 2019 to April 27, 2020 revealed that were reported 25 neonates affected by SARS-CoV-2. Main symptoms were fever, cough, or shortness of breath but often these neonates did not show other symptoms during length stay in hospital. No deaths occurred.


Asunto(s)
Betacoronavirus/aislamiento & purificación , Infecciones por Coronavirus , Enfermedades del Recién Nacido , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Pandemias , Neumonía Viral , COVID-19 , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/fisiopatología , Infecciones por Coronavirus/transmisión , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/fisiopatología , Control de Infecciones , Neumonía Viral/diagnóstico , Neumonía Viral/fisiopatología , Neumonía Viral/transmisión , SARS-CoV-2
4.
Ital J Pediatr ; 46(1): 71, 2020 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-32448358

RESUMEN

BACKGROUND: Delayed umbilical cord clamping is associated with greater haemoglobin concentration and iron storage between 3 and 6 months of life and with less need of blood transfusion and lower incidence of neonatal hypotension compared to early umbilical cord clamping. METHODS: The aim was to test the hypothesis that delayed cord clamping is better than early cord clamping in term infants born by elective caesarean section. Group A was subjected to immediate cord clamping while in the Group B, the umbilical cord was clamped 1 min after birth. Primary aim was revealed the difference in pre-ductal saturation between two groups while secondary aim was investigating the difference in HR, Ht, bilirubin and glycaemia. Pre-ductal SpO2 and HR were recorded at 5 and 10 min after birth, T was analysed 10 min after birth, glycaemia was revealed at 120 min while Ht and bilirubin were collected at 72 h. RESULTS: 132 newborns were enrolled in the study and allocated in ratio 1:1 to group A or B. Delayed cord clamping did not improve SpO2, HR and T values compared to immediate cord clamping (p > 0,05). However, Group B showed greater haematocrit and bilirubin values at 72 h compared to Group A (56,71 ± 6663 vs 51,56 ± 6929; p < 0,05 and 8,54 ± 2,90 vs 7,06 ± 2,76; p < 0,05). Glycaemia value did not differ between two groups (p > 0,05). CONCLUSIONS: Group B did not reveal any differences in SpO2, HR, T and glycaemia compared to Group A. Group B showed greater values of haematocrit and bilirubin but without need of phototherapy. TRIAL REGISTRATION: Umbilical Cord Clamping: What Are the Benefits; NCT03878602. Registered 18 March 2019 retrospectively registered.


Asunto(s)
Cesárea , Cordón Umbilical/cirugía , Adulto , Bilirrubina/sangre , Análisis de los Gases de la Sangre , Glucemia/metabolismo , Temperatura Corporal , Constricción , Femenino , Frecuencia Cardíaca , Hematócrito , Humanos , Recién Nacido , Masculino , Embarazo , Factores de Tiempo
5.
Ital J Pediatr ; 46(1): 20, 2020 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-32050997

RESUMEN

BACKGROUND: Neonatal acidaemia at birth can increase neonatal morbidity and mortality and it is predictive of neonatal asphyxia. The umbilical blood gas analysis is a valid tool for the evaluation of neonatal acidaemia. However, umbilical cord blood gas analysis is commonly performed in high-risk situations or in the setting of Apgar scores < 7 at 5 min. METHODS: A retrospective cohort study was conducted from June to December 2018 at the Department of mother's and child's health, Poliambulanza Foundation Hospital Institute. Inclusion criteria were: full term newborns with body weight appropriate for gestational age, born by vaginal delivery or caesarean section, reassuring Apgar Score > 7 at 5 min, arterial cord blood gas analysis showing pH < 7.4 or BE <-8 mmol/l or lactate > 6 mmol/l. The aim was to evaluate the predictive role of blood gas analysis for respiratory distress syndrome in newborns with reassuring Apgar Score. RESULTS: 352 full term newborns were enrolled. Umbilical cord blood artery pH showed an association with respiratory distress syndrome (χ2(1) = 10,084, OR (95% CI): 3,9 × 10- 4(2,9 × 10- 6 - 0,048); p < 0,05). ROC curve revealed that the cut-off point of pH was 7.12, with a sensibility and specificity of 68 and 63%, respectively. CONCLUSIONS: Umbilical cord blood artery pH < 7.12 at birth is associated to respiratory distress syndrome in newborns. Blood gas analysis is an important instrument to help health care providers during assistance in the delivery room, but also to early identify newborns at high risk for respiratory distress syndrome and better manage the care of these newborns after birth.


Asunto(s)
Sangre Fetal/metabolismo , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Adulto , Parto Obstétrico , Femenino , Estudios de Seguimiento , Humanos , Lactante , Mortalidad Infantil/tendencias , Recién Nacido , Italia/epidemiología , Masculino , Morbilidad/tendencias , Embarazo , Curva ROC , Síndrome de Dificultad Respiratoria del Recién Nacido/sangre , Síndrome de Dificultad Respiratoria del Recién Nacido/epidemiología , Estudios Retrospectivos
7.
Radiol Case Rep ; 14(8): 941-945, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31193917

RESUMEN

Prune Belly syndrome occurs in 1/40,000 live births and predominantly in males. It is characterized by triad: cryptorchidism, abdominal wall, and urinary tract abnormalities. Patients with partial or unilateral abdominal wall deficiency, unilateral undescended testis, and female neonates with abdominal wall laxity are classified as Pseudo Prune Belly syndrome. In the 3%-5% of patients with Prune Belly syndrome are affected by Pseudo Prune Belly syndrome, indeed case reports available are very few. We described a case of a male patient born with a large abdominal hernia. Thoracoabdominal X-ray confirmed the large abdominal hernia and revealed a malformation of the rib cage with curved ribs. Magnetic resonance imaging showed thinning of the abdominal wall and ultrasonography detected rectus and oblique muscles hypoplastic with diastasis rectus muscles and stretching of the Hunter's line. Cryptorchidism or urinary tract abnormalities were not detected. The first surgical operation was performed at 2 years of life when the general conditions were stable.

8.
J Pain Res ; 12: 299-305, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30662283

RESUMEN

OBJECTIVE: To test the hypothesis that oral administration of 24% sucrose associated with nonnutritive sucking in healthy newborns receiving venipuncture beyond the first week of life controls pain and pain-related variation in heart rate (HR) and noninvasive oxygen saturation (SpO2). METHODS: A total of 66 term newborns were enrolled between February and September 2017 in the Neonatology Department of AORN Santobono-Pausilipon, Naples. They were randomly assigned to receive oral 1 mL 24% sucrose (treated group [TG], n=33; gestational age 38.53±1.49 weeks; body weight 3,035±55 g; age 22.40±6.82 weeks) or oral 1 mL 10% glucose (control group [CG], n=33; gestational age 38.91±1.45 weeks; body weight 3,203±65 g; age 23.36±7.02 weeks) 1 minute before and during venipuncture. Evaluations were carried out between 8 and 9 am in all newborns. The Neonatal Infant Pain Scale (NIPS) was used to assess pain in newborns. Outcome measurements (HR, SpO2) were obtained before (T0), during (T1), and 1 minute after (T2) venipuncture using a Nellcor bedside SpO2 patient-monitoring system. NIPS scores were recorded throughout the procedure. Statistical analysis was performed using SPSS version 20.0. Changes in HR and SpO2 were assessed by mixed ANOVA for repeated measures. NIPS scores were evaluated by Mann-Whitney U test. RESULTS: There were no statistically significant differences in HR or SpO2 between TG and CG at T0. HR was significantly lower in TG than CG at both T1 and T2 (P<0.05), whereas SpO2 was significantly higher in TG than CG at both T1 and T2 (P<0.05). NIPS scores were significantly lower in TG (median 0) than CG (median 6) during the entire procedure (P<0.05). CONCLUSION: Oral administration of 24% sucrose associated with nonnutritive sucking prior to and during a painful procedure has a strong impact on pain response in term newborns, reducing NIPS scores and influencing pain-associated variations in HR and SpO2. Complete analgesia during painful procedures in term newborns might prevent pain reactivity and its behavioral and neurodevelopmental consequences. Replication of this study is needed before widespread application of findings.

9.
Curr Pediatr Rev ; 15(2): 125-130, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30387397

RESUMEN

INTRODUCTION: Necrotizing enterocolitis is the most common cause of the postnatal critical conditions and remains one of the dominant causes of newborns' death in Neonatal Intensive Care. The morbidity and mortality associated with necrotizing enterocolitis remains largely unchanged and the incidence of necrotizing enterocolitis continues to increase. There is no general agreement regarding the surgical treatment of the necrotizing enterocolitis. METHODS: In this paper, we want to evaluate the results obtained in our centre from different types of necrotizing enterocolitis's surgical treatment and to analyse the role of traditional X-ray versus ultrasound doppler imaging in the evolutionary phases of necrotizing enterocolitis. The study was conducted in the Department of Emergency-Urgency NICU, A.O.R.N. Santobono-Pausilipon in Naples from January 2010 to December 2016. Patients were monitored by hematochemical examinations and radiological orthostatic exams every 12 hours, so that they had a surgical opportunity before intestinal perforation occurred. Ultrasonography was performed to monitor preterm infants who were hospitalized in NICU and that showed NEC symptomatology in phase I Bell staging. RESULTS: They were recruited 75 premature infants with NEC symptomatology in phase I-III of Bell staging, who underwent surgical or medical treatment. In infants with a birth weight >1500 g (N=30), laparotomy and necrotic bowel resection has generally been our preferred approach. In 46 patients we practiced a primary anastomosis after resection of an isolated necrotic intestinal segment. In patients with multiple areas of necrosis and dubious intestinal vitality, were performed a 'second-look' scheduled after 24 to 48 hours to re-evaluate the intestine. In the initial phase of necrotizing enterocolitis, when the radiographic examination shows only a specific dilation of the loops, ultrasonography shows more and more specific signs, as wall thickening, alteration of parietal echogenicity, increase in wall perfusion, single or sporadic airborne microbubbles in the thickness of wall sections. CONCLUSIONS: Optimal surgical therapy for NEC begins with adequate antibiotic therapy, reintegration of liquids but above all with timely diagnosis, aimed to discover early prodromic phases of wall damage by US, a fundamental tool. Abdomen radiography shows specificity frameworks only when barrier damage is detected while US provides real-time imaging of abdominal structures, highlighting some elements that are completely excluded by radiograph.


Asunto(s)
Antibacterianos/uso terapéutico , Enterocolitis Necrotizante/diagnóstico por imagen , Radiografía , Ultrasonografía , Enterocolitis Necrotizante/fisiopatología , Enterocolitis Necrotizante/cirugía , Femenino , Fluidoterapia , Humanos , Recién Nacido , Enfermedades del Recién Nacido , Recien Nacido Prematuro , Masculino , Resultado del Tratamiento
10.
Mediators Inflamm ; 2018: 2845352, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29706798

RESUMEN

BACKGROUND: Rooming-in practice improves breastfeeding and reduces newborn stress reactivity. When this modality is not available, partial rooming-in after birth can be considered. Salivary cortisol levels (SCLs) are considered reliable biomarkers to indicate stress. OBJECTIVE: To test the hypothesis that rooming-in duration impacts neonatal stress response in hospitalized newborns. DESIGN/METHODS: Forty term newborns, enrolled in the Neonatology and Obstetrics Nursing, C.G. Ruesch, Naples, Italy, were divided, according to the mother's choice, into the study (SG; n = 20) and control (CG; n = 20) groups if they received full (24 hs) or partial (14 hs) rooming-in care, respectively. Saliva samples were collected from all babies between 7:00 a.m. and 8:00 a.m. of the 3rd day of life by using oral swab. Salivary cortisol levels were measured using an enzyme immunoassay kit (Salimetrics LLC, PA, USA). RESULTS: A statistically significant difference in the SCLs between SG and CG was found (median: 258 ng/dl versus 488.5 ng/dl; p = 0.048). CONCLUSIONS: Data support the practice of full rooming-in care compared with partial rooming-in. The rooming-in duration clearly reduces SCLs and likely neonatal stress. These lower SCLs may have long-term positive effects reducing the risk of metabolic syndrome, high blood pressure, and cognitive and behavioural changes.


Asunto(s)
Hidrocortisona/análisis , Alojamiento Conjunto/métodos , Saliva/química , Adulto , Lactancia Materna , Femenino , Humanos , Recién Nacido , Masculino , Embarazo
12.
Ital J Pediatr ; 43(1): 36, 2017 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-28412958

RESUMEN

BACKGROUND: Family-Centred Care (FCC) is recognized as an important component of all paediatric care, including neonatal care, although practical clinical guidelines to support this care model are still needed in Italy. The characteristics and services for families in Italian NICUs show a lack of organization and participation. METHODS: The first aim was to compare satisfaction and stress levels in two groups of parents: an FCC group and a non-FCC group (NFCC). The second aim was to evaluate body weight gain in the newborns enrolled. This non-randomized, prospective cohort pilot study was conducted in a single level III NICU at a hospital in Naples, Italy. A cohort of newborns in the NICU, with their parents were enrolled between March 2014 and April 2015 and they were divided into two groups: the FCC group (enrolled between October 2014 and April 2015) remained in the NICU for 8 h a day with FCC model; the NFCC group (enrolled between March 2014 and September 2014) was granted access to the NICU for only 1 hour per day. At discharge, both parent groups completed the Parental Stressor Scale (PSS)-NICU and a questionnaire to assess their satisfaction. In addition, we compared scores from the mothers and fathers within and between groups and the body weights of the newborns in the two groups at 60 days. RESULTS: Parents participating in the FCC group were more satisfied and less stressed than those in the NFCC group. Infants in the FCC group also showed increased body weight after 60 days of hospital stay. CONCLUSIONS: Despite our small population, we confirm that routine adoption of a procedure designed to apply a FCC model can contribute to improving satisfaction and distress among preterm infants' parents. Future multi-centre, randomized, controlled trials are needed to confirm these findings.


Asunto(s)
Cuidado del Lactante/métodos , Unidades de Cuidado Intensivo Neonatal , Padres/psicología , Atención Dirigida al Paciente/métodos , Grupos de Autoayuda , Adulto , Estudios de Cohortes , Cuidados Críticos/métodos , Cuidados Críticos/psicología , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Italia , Tiempo de Internación , Masculino , Proyectos Piloto , Estudios Prospectivos , Medición de Riesgo , Estrés Psicológico
14.
Ital J Pediatr ; 42(1): 100, 2016 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-27863530

RESUMEN

BACKGROUND: High fidelity simulation has been executed to allow the evaluation of technical and non-technical skills of health caregivers. Our objective was to assess technical and non-technical performances of low level hospitals health caregivers who attended a Neonatal Resuscitation course using high fidelity simulation in a standard-setting scenario. METHODS: Twenty-three volunteers were asked to manage a simple scenario (infant with secondary apnea) after the course. Technical and non-technical skills were assessed by using previously published scores. Performances were assessed during the scenario and after 2 months by filmed video recordings. RESULTS: Sixteen (69.5%) participants failed to pass the minimum required technical score. Staff experience and participation in previous courses were associated to higher score in technical and non-technical skills, while working in level I or II hospitals did not affect the scores. Previous experience in neonatal resuscitation requiring positive pressure ventilation was associated to better non-technical performance. Technical and non-technical scores were significantly correlated (r = 0.67, p = 0.0005). Delayed and direct evaluation of technical skills provided the same scores. CONCLUSIONS: A neonatal resuscitation course, performed by using a high fidelity simulation manikin, had a limited impact on technical and non-technical skills of participants working in low level hospitals. Training programs should be tailored to the participants' professional background and to the more relevant sessions.


Asunto(s)
Competencia Clínica , Cuerpo Médico de Hospitales/educación , Enfermería Pediátrica/educación , Resucitación/educación , Femenino , Humanos , Recién Nacido , Capacitación en Servicio , Italia , Masculino , Maniquíes
15.
J Pediatr ; 177: 103-107, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27499215

RESUMEN

OBJECTIVE: To assess the accuracy of time perception during a simulated complex neonatal resuscitation. STUDY DESIGN: Participants in 5 neonatal resuscitation program courses were directly involved in a complex simulation scenario. They were asked to assume the role of team leader, assistant 1, or assistant 2. At the end of the scenario, each participant completed a questionnaire on perceived time intervals for key resuscitation interventions. During the scenario, actual times were documented by an external observer and video recorded for later review. In addition, participants were asked to evaluate their self-perceived level of stress and preparation. RESULTS: Health care providers (68 physicians and 40 nurses) were involved in 36 scenarios. Perceived time intervals for the initiation of key resuscitation interventions were shorter than the actual time intervals, regardless of the participant's role in the scenario. Self-assessed levels of stress and preparation did not influence time perception. CONCLUSIONS: Health care providers underestimate the passage of time, irrespective of their role in a simulated complex neonatal resuscitation. Participant's self-assessed levels of stress and preparation were not related to the accuracy of their time perception. These findings highlight the importance of assigning a dedicated individual to document interventions and the passage of time during a neonatal resuscitation.


Asunto(s)
Competencia Clínica , Personal de Salud/estadística & datos numéricos , Resucitación/métodos , Percepción del Tiempo , Humanos , Recién Nacido , Italia , Maniquíes , Evaluación de Programas y Proyectos de Salud , Estudios Prospectivos
16.
Radiol Case Rep ; 11(2): 113-5, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27257464

RESUMEN

Esophageal atresia (EA) with tracheoesophageal fistula occurs in about 1:2,500 births. We report a case of persistent bronchography in a newborn with EA and distal tracheoesophageal fistula. A large amount of barium sulfate was injected for mistake by a tube directly in the right bronchus to evaluate the patency of the esophagus. The infant showed signs of respiratory distress; he was intubated and transported at children's Hospital Santobono Pausilipon. Here, it was performed a chest X-ray that confirmed the opacification of the right bronchial tree, and it was suspected an EA type 3b. The literature recommends that: evaluation of the patency of the esophagus, with an iodinate contrast medium, should be done in a pediatric specialized center for high risk of lung aspiration.

17.
Ital J Pediatr ; 41: 86, 2015 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-26552811

RESUMEN

BACKGROUND: Fraser Syndrome is a rare, autosomal recessive syndrome. It's characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. To better manage childbirth at the time of delivery it is crucial to get prenatal diagnosis early on in the pregnancy. CASE PRESENTATION: We are reporting a female infant born by natural birth with 46,XX. She was characterized phenotypically by cryptophthalmos, syndactyly, bilateral microtia and ambiguous genitalia. A prenatal ultrasound didn't revealed or raised any suspects for the Fraser Syndrome. It only discovered a unilateral kidney agenesis. At birth the infant showed a severe respiratory distress, intubation was attempted but it failed. The baby was transferred to Santobono-Pausilipon III level hospital. A tracheostomy was performed successfully and saved her life. Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior. Genetic test revealed the typical mutations in the gene FREM2 confirming the diagnosis of Fraser Syndrome. In her fourth month, after birth, the infant was subjected to an operation to reconstruct eyelids with a mucous membrane graft. The left renal function was normal. The baby showed a delay in motor milestones for visual impairment. At the 19(th) month fallow-up, during a magnetic resonance it was revealed: a normal morphologic brain development, a thin presence in the right optic nerve and the visual cortex were developing. CONCLUSIONS: The prenatal diagnosis of Fraser Syndrome is frequently possible. The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome. The health providers must keep in mind that if there are suspects of the Fraser Syndrome during prenatal exams, the infants could have a severe malformation in the respiratory tract.


Asunto(s)
Anomalías Múltiples/diagnóstico , Síndrome de Fraser/diagnóstico , Diagnóstico Prenatal/métodos , Femenino , Humanos , Recién Nacido , Embarazo , Pronóstico
18.
BMJ Case Rep ; 20152015 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-26245283

RESUMEN

Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance to recognise signs of neonatal Canavan syndrome early on. We describe a case of neonatal Canavan syndrome in which diagnosis was made only at the fourth month of age.


Asunto(s)
Ácido Aspártico/análogos & derivados , Enfermedad de Canavan/diagnóstico , Enfermedad de Canavan/genética , Diagnóstico Precoz , Ácido Aspártico/orina , Terapia Genética , Humanos , Lactante , Espectroscopía de Resonancia Magnética
19.
BMJ Case Rep ; 20152015 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-26139648

RESUMEN

Maternal hypertensive treatment with angiotensin receptor blockers (ARBs) during the second and third trimester of pregnancy is associated with several fetal and neonatal complications, and potential adverse outcomes. We report a neonate presenting with transient renal acute failure during the first days of life after maternal treatment with ARBs. Women who became pregnant while taking one of these drugs must modify antihypertensive therapy with a different class drug as soon as pregnancy is recognised.


Asunto(s)
Lesión Renal Aguda/inducido químicamente , Bloqueadores del Receptor Tipo 1 de Angiotensina II/efectos adversos , Antihipertensivos/efectos adversos , Bencimidazoles/efectos adversos , Benzoatos/efectos adversos , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Adulto , Femenino , Humanos , Hipertensión/tratamiento farmacológico , Recién Nacido , Masculino , Embarazo , Complicaciones Cardiovasculares del Embarazo/tratamiento farmacológico , Telmisartán
20.
Ann Plast Surg ; 49(5): 550-2, 2002 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-12439026

RESUMEN

An infant with typical popliteal pterygium syndrome had intraoral fibrous bands binding the maxillary and mandibular alveolar ridges. This resulted in dramatically restricted mouth opening. These bands were divided surgically with endoscopic assistance.


Asunto(s)
Anomalías Múltiples/cirugía , Anomalías de la Boca/cirugía , Endoscopía , Femenino , Humanos , Lactante , Síndrome
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