Penetrating cardiac trauma caused by a nail-gun: A case report and narrative review.

Introduction: Penetrating cardiac injuries are emergencies that require prompt surgical management. Most of these injuries are caused by gunshots or stab wounds however the incidence of nail-gun injuries is rising due to their availability and widespread use. Cardiac injuries caused by nail-guns are often self-inflicted. These injuries almost always require operative management with a sternotomy or thoracotomy. Case report: This case report describes a 47-year-old male with two self-inflicted nail-gun wounds to the chest. He presented in a stable condition and subsequently underwent an emergency sternotomy to repair a penetrating cardiac injury. We highlight our diagnostic and operative approach to this injury and present a contemporary narrative review of similar cases. Conclusion: Almost all cases of penetrating trauma caused by nail-gun injuries require urgent surgery. Some cases require the use of cardiopulmonary bypass. In this case, the use of the Medtronic® urchin apical suction device, usually reserved for off pump cardiac surgery, facilitated exposure and repair of the lateral wall of the left ventricle.

Traumatic tricuspid valve regurgitation: A two case series.

Traumatic tricuspid valve injury is rare, accounting for 0.02% of traumatic injuries. The majority of cases result from blunt force trauma to the chest, however penetrating injuries have been documented in literature. Patients' can be in the full spectrum of disease, from asymptomatic to cardiogenic shock. Indications for surgery include right heart failure or evidence of right heart volume overload in the setting of significant tricuspid regurgitation. Early surgical repair is warranted to preserve right ventricular function. Surgery also needs to be planned in conjunction with the patients' other injuries. In some cases, it may be beneficial for surgery to be delayed whilst the patient is closely observed, in order for the patient to recover from concomitant injuries. We report two cases of tricuspid regurgitation in the context of blunt trauma, and our approach to the management of these patients.

Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature.

Short stature in children can be caused by congenital pituitary disorders involving at least one form of growth hormone deficiency. Clinical and radiological evaluations of the index case and family history assessments are essential to guide genetic diagnostic testing and interpret results. The first-line approach is panel testing of genes involved in pituitary development with variants known to be pathogenic in this context. It identifies a genetic cause in less than 10% of cases, however. Whole-exome and whole-genome sequencing techniques may provide original information but also raise new questions regarding the pathophysiological role of identified variants. These new tools can make genetic counselling more complex. The role of clinicians in these interpretations is therefore important. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Women's mood at high altitude. sexual dimorphism in hypoxic stress modulation by the tryptophan-melatonin axis.

Sexual (and gender)-dimorphism in tolerance to hypobaric hypoxia increasingly matters for a differential surveillance of human activities at high altitude (HA). At low altitudes, the prevalence of anxiety and depression in women has already been found to double when compared with men; it could be expected to even increase on exposure to HA. In purposefully caring for the health of women at HA, the present work explores the potential involvement of the tryptophan (Trp)-melatonin axis in mood changes on exposure to hypobaric hypoxia. The present work highlights some already known anxiogenic effects of HA exposure. Hypoxia and insomnia reduce serotonin (5-HT) availability; the latter defect being expressed as failure of brown adipose tissue (BAT) activation and mood disorders. Rapid eye movement (REM) sleep organization and synapsis restoration that are additionally affected by hypoxia impair memory consolidation. Affective complaints may thus surge, evolving into anxiety and depression. Sex-related differences in neural network organization and hormonal changes during the menstrual cycle, and certainly also during the life cycle, underscore the possibility of 5-HT-related mood alterations, particularly in women on HA exposure. The mean brain rate of 5-HT synthesis at sea level is already 1.5-fold higher in males than in females. sexual dimorphism also evidences the overexpression effects of SERT, a 5-HT transporter protein. Gonadal and thyroid hormones, as influenced by HA exposure, further modulate 5-HT availability and its effects in women. Besides caring for adequate oxygenation and maintenance of one's body core temperature, special precautions concerning women sojourning at HA should include close observations of hormonal cycles and, perhaps, also trials with targeted antidepressants.

Treatment of balanitis xerotica obliterans in pediatric patients. / Tratamiento de la balanitis xerótica obliterante en pacientes pediátricos.

OBJECTIVES: Balanitis xerotica obliterans (BXO) is a chronic inflammatory disease with a little known incidence in pediatric population. The objective of this work was to describe our experience in the treatment of BXO. MATERIALS AND METHODS: Retrospective study carried out in 419 patients undergoing circumcision surgery between January 2014 and January 2017. Demographic, clinical, therapeutic, and anatomical and pathological variables, as well as complications during follow-up, were analyzed. RESULTS: Of the 419 patients, 41 (9.78%) were diagnosed with BXO. 6 patients were excluded owing to lack of follow-up, so 35 patients were analyzed. Mean age at diagnosis was 8.6 years. Suspicion diagnosis was clinical at physical exploration in 17 patients (48.6%), and at surgery in 18 patients (51.4%). Anatomical and pathological confirmation was performed in a total 35 patients (100%). During follow-up, 6 patients (17.14%) had lesions in the glans, 3 (8.57%) in the urethra, and 9 (25.71%) in both. 6 meatotomies (17.14%) and 5 new circumcisions (14.28%) had to be carried out. Mean recurrence time was 32.43 months. In 19 patients (54.28%), topical corticoids - ointment - were applied, and 1 patient (2.85%) received topical immunosuppressants. CONCLUSIONS: A close follow-up of patients with clinical or anatomical and pathological diagnosis of BXO is required given its high morbidity. The complications described in pediatric population include meatal and urethral stenosis, as well as recurrent phimosis, unless a sufficient amount of foreskin is resected.

OBJETIVOS: La balanitis xerótica obliterante (BXO) es una enfermedad crónica inflamatoria de incidencia poco conocida en la población pediátrica. El objetivo de este trabajo es describir nuestra experiencia en el tratamiento de las BXO. MATERIAL Y METODOS: Estudio retrospectivo de 419 pacientes intervenidos de circuncisión en el periodo comprendido entre enero de 2014 y enero de 2017. Analizamos variables demográficas, clínicas, anatomopatológicas, terapéuticas y complicaciones durante el seguimiento. RESULTADOS: De los 419 pacientes, 41 fueron diagnosticados de BXO (9,78%). Seis pacientes fueron excluidos por falta de seguimiento, por lo que se analizaron 35 pacientes. La media de edad al diagnóstico fue de 8,6 años. El diagnóstico de sospecha fue clínico durante la exploración física en 17 pacientes (48,6%) y durante la intervención en 18 (51,4%), realizando la confirmación anatomopatológica en un total de 35 pacientes (100%). Durante el seguimiento 6 pacientes (17,14%) presentaron lesiones en glande, 3 (8,57%) en uretra y 9 (25,71%) en ambas localizaciones, siendo necesaria la realización de 6 meatotomías (17,14%) y de nueva circuncisión en 5 (14,28%). El tiempo medio de recidiva fue de 32,43 meses. En 19 pacientes (54,28%) se aplicaron corticoides tópicos en pomada y en 1 paciente inmunosupresores tópicos (2,85%). CONCLUSIONES: Es necesario un seguimiento estrecho de los pacientes con diagnóstico clínico o anatomopatológico de BXO dada su elevada morbilidad. Las principales complicaciones descritas en la población pediátrica son la estenosis meatal y uretral, así como la recidiva de la fimosis si no se reseca el prepucio suficientemente.

Non-motor symptom burden is strongly correlated to motor complications in patients with Parkinson's disease.

BACKGROUND AND PURPOSE: The objective of this study was to analyze the relationship between motor complications and non-motor symptom (NMS) burden in a population of patients with Parkinson's disease (PD) and also in a subgroup of patients with early PD. METHODS: Patients with PD from the COPPADIS cohort were included in this cross-sectional study. NMS burden was defined according to the Non-Motor Symptoms Scale (NMSS) total score. Unified Parkinson's Disease Rating Scale (UPDRS) part IV was used to establish motor complication types and their severity. Patients with ≤5 years of symptoms from onset were included as patients with early PD. RESULTS: Of 690 patients with PD (62.6 ± 8.9 years old, 60.1% males), 33.9% and 18.1% presented motor fluctuations and dyskinesia, respectively. The NMS total score was higher in patients with motor fluctuations (59.2 ± 43.1 vs. 38.3 ± 33.1; P < 0.0001) and dyskinesia (63.5 ± 40.7 vs. 41.4 ± 36.3; P < 0.0001). In a multiple linear regression model and after adjustment for age, sex, disease duration, Hoehn & Yahr stage, UPDRS-III score and levodopa equivalent daily dose, UPDRS-IV score was significantly related to a higher NMSS total score (ß = 0.27; 95% confidence intervals, 2.81-5.61; P < 0.0001), as it was in a logistic regression model on dichotomous NMSS total score (≤40, mild or moderate vs. >40, severe or very severe) (odds ratio, 1.31; 95% confidence intervals, 1.17-1.47; P < 0.0001). In the subgroup of patients with early PD (n = 396; mean disease duration 2.7 ± 1.5 years), motor fluctuations were frequent (18.1%) and similar results were obtained. CONCLUSIONS: Motor complications were frequent and were associated with a greater NMS burden in patients with PD even during the first 5 years of disease duration.

Systemic high-dose intravenous methotrexate in patients with central nervous system metastatic breast cancer.

BACKGROUND: Infusion of high-dose intravenous methotrexate (MTX) has been demonstrating to penetrate the blood-brain barrier. The aim of this present study was to assess the efficacy and safety of high dose MTX in patients with central nervous system (CNS) metastases of breast cancer. METHODS: Twenty-two patients with CNS metastases treated by MTX (3 g/m2) between April 2004 and October 2009 were enrolled. Clinical response rate, time to progression (TTP), overall survival (OS), and safety were assessed. RESULTS: In terms of brain metastases, 2 patients (9%) achieved a partial response, 10 patients (45%) had disease stabilization, and 10 patients (45%) had disease progression. In others metastatic sites, 7 patients (39%) achieved a disease stabilization, and 11 patients (61%) had disease progression. TTP and OS were 2.1 (95%CI 1.4-2.9) and 6.3 (95%CI 1.8-10) months, respectively. CONCLUSION: High-dose MTX demonstrated a moderate activity at 3 g/m2. Nonetheless, the favorable toxicity profile should suggest the possibility to increase the dosage and further study are planned.

Open vs robotic infant ureteroureterostomy.

INTRODUCTION: A ureteroureterostomy (UU) is often used to manage some duplication anomalies. The operation is commonly performed through a Pfannenstiel incision, but other minimally invasive approaches have been described. The objective of this study is to compare open vs robotic infant UU with regards to operative time, complications, and operative success. METHODS AND MATERIALS: This is a retrospective institutional review board approved study of all infant UUs performed from July 2013 to January 2019. Before the DaVinci Xi became available (November 2017), UUs were primarily done open. All UUs after November 2017 were robotic. Surgery was recommended electively at 6 months in suspected cases of ectopic ureters or earlier for history of febrile UTI's or worsening hydronephrosis. Both open and robotic cases were started with cystoscopy and lower pole ureteral stent placement. A 5-0 polypropylene suture was tied in between in the stent and the Foley catheter. Foley and stent were removed 3-7 days after surgery in the clinic or at home by the parents. For both open and robotic approaches, patients were discharged on postoperative day (POD) 1 with the Foley draining into a double diaper on antibiotic prophylaxis. RESULTS: From July 2013 to January 2019, 12 open and eight robotic infant UUs were performed. One patient in each group had a ureterocele, and the rest had ectopic ureters. Median age was 7 months for both the open and robotic groups. All patients except one had a 3.7 Fr by 10-12 cm stent placed attached to an 8-10 Fr silicone Foley catheter. The exception was the first robotic case who had a 3 Fr stent with no dangler placed after failed attempts with a 4.7 Fr stent (there were no 3.7 Fr stents that day). Median surgery time was 129 min (range 100-188, mean 133 min) for open and 130 min (range 79-226 min, mean 137 min) for robotic (P-value 0.8). In addition to the robotic case who had a 3 Fr stent placed with no dangler, an additional robotic case had to have her stent removed under anesthesia because the dangler broke or the knot got undone when the Foley was removed. One patient in the robotic arm who had the surgery done for a ureterocele had two postoperative febrile UTI's. Evaluation with VCUG and renal ultrasound (US) did not reveal hydronephrosis or reflux. She was managed conservatively. Other than the two cystoscopy and stent removals, no patient required a reoperation. DISCUSSION: These data indicate that the laparoscopic robotic-assisted UU can be safely performed in infants with similar operative time compared with the traditional open Pfannenstiel approach. The two complications in the robotic arm were not related to the approach itself but to issues with the stents, which would have not been prevented by an open approach. There were no complications specific to the robotic approach. CONCLUSIONS: Laparoscopic robotic-assisted infant UUs are safe, effective, and can be done in a similar time compared with the traditional open Pfannenstiel approach.

'Mini' extravesical reimplant with 'mini' tapering for infants younger than 6 months.

INTRODUCTION: Some infants with obstructed megaureters or ectopic ureters requiring surgery undergo a cutaneous ureterostomy followed by definitive repair after 12 months of age. Since 2013, a 'mini' extravesical reimplant with or without 'mini' tapering (MER) was performed instead of cutaneous ureterostomy in such infants. OBJECTIVE: To describe the technique and outcomes for MER. STUDY DESIGN: This is a retrospective review of infants younger than 6 months who underwent MER. MER consists of a 2- to 3-cm extravesical tunnel, regardless of the ureter diameter. 'Mini' tapering consisted of an adventitial sparing technique involving only the distal 2-3 cm of the ureter. Details of the technique are included in the video. The main outcomes were postoperative symptomatic urinary tract infections (UTI's) and reoperations. Voiding function was assessed at the last contact with the family. RESULTS: Nine consecutive infants underwent MER from July 2013 to March 2018. Four patients had ectopic ureters and five had primary obstructed megaureters. The median ureteral diameter was 1.5 cm. Indications for surgery were as per the British Association of Pediatric Urologists guidelines on megaureters. All patients had 3-month postoperative renal ultrasound, and seven of the nine patients had postoperative voiding cystourethrogram (VCUG). One patient with a normal postoperative VCUG and MAG 3, as well as resolved hydroureteronephrosis had a few postoperative febrile UTIs but no more for >1 year at the last follow-up. At a median time from surgery of 44 months, there have been no reoperations (except cystoscopy with stent removal). With regard to voiding function, six patients were successfully potty trained, one has bowel and bladder incontinence at the age of 4 years - with stable renal ulstraound -, and two are younger than 2 years. DISCUSSION: MER has been the only surgery needed for the cohort of nine infants younger than 6 months with distal ureteral obstruction at a median time from surgery of 44 months. Voiding function does not appear to be affected by the operation. CONCLUSIONS: For babies younger than 6 months of age in need of surgery for obstructed distal ureter, MER appears to be a feasible and effective option, associated with reduced morbidity and reoperation rate compared to the alternatives.

Ureteral tunnel length versus ureteral orifice configuration in the determination of ureterovesical junction competence: A computer simulation model.

INTRODUCTION: The long-held belief that a ureteral re-implant tunnel should be five times the diameter of the ureter, as proposed by Paquin in 1959, ignores the effect of the orifice on the occurrence of reflux. In 1969, Lyon proposed that the shape of the ureteral orifice (UO) is more important than the intravesical tunnel. However, both theories missed quantitative evidence from principles of physics. The goal of the current study was to test Lyon's theory through numerical models (i.e. to quantify the sensitivity of ureterovesical junction (UVJ) competence to intravesical tunnel length and to the UO). MATERIALS AND METHODS: The closure of a three-dimensional spatial configuration of ureter, constrained within a bladder, was simulated. Two common UO shapes (i.e. golf type vs 2-mm volcano type (Summary Fig.)), and two different intravesical ureteral tunnel length/diameter ratios (3:1 and 5:1) were examined. The required closure pressures were then compared. RESULTS: The UO was a significant factor in determining closure pressure. Given the same intravesical ureteral tunnel length/diameter ratio, the required closure pressure for the volcanic orifice was 78% less than that for the golf orifice. On the other hand, the intravesical ureteral tunnel length/diameter ratio had minimal effect on the required closure pressure. As the intravesical ureteral tunnel length/diameter ratio changed from 3:1 to 5:1, the required closure pressure was reduced by less than 7%, regardless of the orifice shape. CONCLUSIONS: The simulation results showed that UVJ competence was more sensitive to a 2-mm protrusion of the UO compared to an increase in the intravesical tunnel length from 3:1 to 5:1. This agrees with Lyon's theory, and at the same time challenges Paquin's 5:1 rule. Researchers could use this information to consider the UO configuration in further animal, human, computer or material models.

Manejo de cicatrices patológicas excesivas en el Servicio de Rehabilitación / Management of excessive pathological scars in the Rehabilitation Service

The excessive pathological scars are subdivided into hypertrophic, keloid and contracted. They have a complex pathophysiology, not entirely known that only exists in humans. Although the frequency of presentation is not high, excessive pathological scars can affect several areas of human functioning, in the first level of functions and body structures and in the second level of activities of daily life and participation. The evaluation of patients must be complete, including the scar, and any other affected body system, together with psychological, functional and socioeconomic factors. In the treatment of excessive scars there are multiple options that must be combined for a better result. The non-surgical treatments of the most used scars are the pressotherapy, silicone plates, intralesional injections and laser. There are other rehabilitation treatments that although without solid evidence could have a role in patients. The referral to the rehabilitation service is recommended for patients with excessive pathological scars located in areas of folds or special areas and / or, which are accompanied by pain, alterations in the function of the body segment or limitations in activities of daily life, for comprehensive assessment and multidisciplinary management. (AU)

Enfermedades vasculares del hígado. Guías Clínicas de la Sociedad Catalana de Digestología y de la Asociación Española para el Estudio del Hígado / Vascular diseases of the liver. Clinical Guidelines from the Catalan Society of Digestology and the Spanish Association for the Study of the Liver

Las enfermedades vasculares hepáticas, a pesar de su relativamente baja prevalencia, representan un problema de salud importante en el campo de las enfermedades hepáticas. Una característica común a muchas de estas enfermedades es que pueden causar hipertensión portal, con la elevada morbimortalidad que ello conlleva. Con frecuencia estas enfermedades se diagnostican en pacientes jóvenes y el retraso en su diagnóstico y/o un tratamiento inadecuado pueden reducir de forma importante la esperanza de vida. El presente artículo revisa la evidencia actual en el síndrome de Budd-Chiari, la trombosis venosa portal en pacientes no cirróticos, la hipertensión portal idiopática, el síndrome de obstrucción sinusoidal, las malformaciones vasculares hepáticas en la telangiectasia hemorrágica hereditaria, la trombosis portal en la cirrosis, otras patologías vasculares menos frecuentes como las fístulas arterioportales, así como un apartado sobre el diagnóstico por imagen de las enfermedades vasculares hepáticas y su tratamiento desde el punto de vista hematológico (estudio de la diátesis trombótica y tratamiento anticoagulante). Las recomendaciones se han realizado de acuerdo a los estudios publicados extraídos de Pubmed. La calidad de la evidencia y la intensidad de las recomendaciones fueron graduadas de acuerdo al sistema Grading of Recommendations Assessment Development and Evaluation (GRADE). Cuando no existían evidencias suficientes, las recomendaciones se basaron en la opinión del comité que redactó la guía.

Despite their relatively low prevalence, vascular diseases of the liver represent a significant health problem in the field of liver disease. A common characteristic shared by many such diseases is their propensity to cause portal hypertension together with increased morbidity and mortality. These diseases are often diagnosed in young patients and their delayed diagnosis and/or inappropriate treatment can greatly reduce life expectancy. This article reviews the current body of evidence concerning Budd-Chiari syndrome, non-cirrhotic portal vein thrombosis, idiopathic portal hypertension, sinusoidal obstruction syndrome, hepatic vascular malformations in hereditary haemorrhagic telangiectasia, cirrhotic portal vein thrombosis and other rarer vascular diseases including arterioportal fistulas. It also includes a section on the diagnostic imaging of vascular diseases of the liver and their treatment from a haematological standpoint (study of thrombotic diathesis and anticoagulation therapy). All recommendations are based on published studies extracted from PubMed. The quality of evidence and strength of recommendations were rated in accordance with the GRADE system (Grading of Recommendations, Assessment Development and Evaluation). In the absence of sufficient evidence, recommendations were based on the opinion of the committee that produced the guide.

Clinic meatotomy under topical anesthesia.

OBJECTIVES: Almost 20 years after Cartwright et al. (1996) demonstrated the feasibility and effectiveness of clinic meatotomy (CM) under topical lidocaine and prilocaine (EMLA) anesthesia, 50% of meatotomies are still performed under general anesthesia (GA) (Godley et al., 2015). The cost of a meatotomy under GA is approximately 10 times the cost of CM in the present practice. This study presented the outcomes for CM under topical anesthesia, in consecutive patients who presented with meatal stenosis secondary to circumcision. MATERIALS AND METHODS: This was a retrospective descriptive study of data, which were collected prospectively for quality improvement purposes from July 2013 to September 2015, of 55 consecutive boys who underwent CM for meatal stenosis (occlusion of urethral meatus by a crust; deflected stream). Meatotomy was performed after applying EMLA and covering it with a Tegaderm® dressing, and then waiting 20-60 min. The recorded outcomes were pain and success rate. Pain was defined at the beginning of data collection as any sound, grimace or movement during the procedure. Success rate was recorded during follow-up in the clinic or over the phone, when the family was asked if symptoms were the same, improved or completely resolved. RESULTS: Forty-three boys (78%) had no pain and 12 (22%) had pain as defined above (Figure), but no CM had to be stopped due to pain. At a median follow-up of 1.6 months (IQR 1.3-2.7 months) 41 (75%) patients had resolution of their symptoms and a normal urinary stream, nine (16%) had improved symptoms, and three (5%) had unchanged symptoms. CONCLUSIONS: More patients reported pain than those in the Cartwright study; this was perhaps because a full hour was not waited after EMLA application with most of the present patients. The present success rate was also lower than that reported by Cartwright, and for that there is no explanation. However, all CM could be completed and >90% of patients saw resolution or improvement of their symptoms. At a cost ten times lower than a meatotomy performed under GA, and with no evidence of inferiority evident in the literature, it is believed that CM should be the standard of care when meatal stenosis is treated by a meatotomy.

Eclampsia como manifestación clínica de enfermedad trofoblástica gestacional: reporte de caso / Eclampsia as clinical presentation of gestational trophoblastic disease: case report

Introducción: La eclampsia es una complicación severa y poco frecuente del embarazo, apareciendo generalmente luego de las 34 semanas de edad gestacional. El diagnóstico de preeclampsia antes de las 20 semanas de edad gestacional se asocia con patología del trofoblasto. Presentación del caso: Paciente femenina de 18 años, 3 embarazos, 0 partos, 2 abortos, cursando embarazo de 14 semanas de edad gestacional, consulta por haber presentado síndrome convulsivo con crisis generalizadas de tipo tónico-clónicas y amaurosis posterior. Se sospecha síndrome de hipertensión endocraneana y se solicita resonancia magnética de encéfalo, que muestra múltiples lesiones córtico-subcorticales, sugiriendo síndrome de encefalopatía posterior reversible. Una ecografía obstétrica informa placenta aumentada de tamaño con múltiples imágenes econegativas con aspecto de panal de abeja, oligohidroamnios y feto con latidos positivos, sin anomalías anatómicas. La gonadotrofina coriónica humana fue de 11538440 U/L. Evoluciona con compromiso de conciencia y tres episodios de convulsión generalizada de tipo tónico-clónica con mala respuesta a diazepam y adecuada respuesta a sulfato de magnesio. Se pesquisa crisis hipertensiva y proteinuria de 24 horas de 8 gramos. Se decide interrupción del embarazo y manejo en Unidad de Paciente Crítico. Legrado aspirativo sin incidentes. La biopsia indica mola hidatidiforme parcial con feto sin malformaciones externas. Evolución favorable con negativización de gonadotrofina coriónica humana en controles posteriores. Discusión: El desarrollo de eclampsia antes de las 20 semanas es anecdótico con pocos casos reportados y su aparición debe hacer sospechar una patología del trofoblasto.

Introduction: Preeclampsia is a severe complication of pregnancy, usually appearing after 34 weeks of gestational age. The diagnosis of preeclampsia before 20 weeks of gestational age is associated with trophoblastic disease. Case report: Female patient, 18 years old, 3 pregnancies, 0 deliveries, 2 abortions, 14 weeks pregnant. Presents with generalized tonicclonic seizures and amaurosis. Clinical evaluation compatible with intracranial hypertension síndrome and magnetic resonance imaging of the brain is requested, showing multiple cortico-subcortical lesions, suggesting posterior reversible encephalopathy syndrome. Ultrasound evaluation informs increased size placenta, multiple echo-negativa images with honeycomb disposition, oligohydramnios and present fetal heartbeats. No fetal anatomic abnormalities. Human chorionic gonadotrophin level was 11538440 U/L. Clinical presentation evolves with impaired conscousness and three generalized tonic-clonic crisis, showing poor response to intravenous diazepam and appropriate response to magnesium sulfate. Hypertensive crisis develops and the result of 24 hour proteinuria is 8 grams. Due to mater nal risk pregnancy was interrupted and uterine aspirage was performed. Patient was managed in the Intensive Care Unit. Biopsy informed partial hydatidiform mole and fetus with no anatomical abnormalities. Clinical evolution was positive and human chorionic gonadotrophin level below detection during follow-up. Discussion: Development of eclapsia before 20 weeks of gestational age is anecdotal with few reported cases and could be indicative of gestational trophoblastic disease.

Esteatosis hepatica aguda en el tercer trimestre de embarazo gemelar: reporte de caso / Acute hepatic esteatosis during third trimester twin pregnancy: case report

Introducción: La esteatosis hepática aguda del embarazo (EHAE) es una patología metabólica grave e infrecuente caracterizada por esteatosis hepática microvesicular que conduce a insuficiencia hepática aguda. Aparece generalmente en el tercer trimestre de gestación y se reconoce el embarazo gemelar como un factor de riesgo para su desarrollo. Presentación del caso: Paciente femenina de 25 años sin antecedentes médicos, 2 embarazos, 1 parto y 0 abortos, cursando embarazo gemelar de 31 semanas de gestación, consultó por presentar cuadro de dolor abdominal, vómitos e ictericia. Se sospechó hepatitis aguda y se decidió hospitalizar. Al ingreso una ecografía obstétrica precisó latidos fetales ausentes decidiéndose interrupción del embarazo de urgencia. La paciente evolucionó con síndrome confusional y epistaxis masiva requiriendo transfusión. Exámenes de ingreso evidenciaron insuficiencia renal, insuficiencia hepática y trombocitopenia. Ingresó a Unidad de Paciente Crítico con diagnóstico de síndrome de HELLP requiriendo soporte con ventilación mecánica. Persistió con mala evolución clínica por lo que se solicitó tomografía de abdomen y pelvis mostrando signos de pancreatitis aguda y hematoma subcapsular hepático. Exámenes de control objetivaron hiperbilirrubinemia, transaminasas elevadas, hipoalbuminemia, hipocolesterolemia y tiempo de protrombina elevado. Se planteó diagnóstico de esteatosis hepática aguda del embarazo. Ingresó a lista de espera para trasplante hepático. Posteriormente evolucionó con mejoría espontánea de la función hepática y se logró extubar tras dos semanas de hospitalización. Discusión: El desarrollo de esteatosis hepática aguda del embarazo es infrecuente y potencialmente grave debiéndose interrumpir el embarazo precozmente y manejarse en unidades de paciente crítico debido a su alta mortalidad.

Introduction: Acute hepatic esteatosis of pregnancy (AHEP) is a serious and uncommon metabolic pathology characterized by microvesicular liver steatosis leading to acute liver failure. It usually appears in the third trimester of gestation and twin pregnancy is recognized as a risk factor for its development. Case Report: A 25-year-old female patient with no medical history, 2 pregnancies, 1 childbirth and 0 abortions, having a twin pregnancy of 31 weeks' gestation, consulted for abdominal pain, vomiting and jaundice. Acute hepatitis was suspected and it was decided to hospitalize. On admission, an obstetric ultrasonography screened for absent fetal beats, deciding to interrupt the pregnancy. The patient evolved with confusional syndrome and massive epistaxis requiring transfusion. She presented renal failure, hepatic failure, and thrombocytopenia. He entered a Critical Patient Unit with diagnosis of HELLP syndrome requiring support with mechanical ventilation. It persisted with poor clinical evolution, requiring tomography of the abdomen and pelvis showing signs of acute pancreatitis and subcapsular hepatic hematoma. Control examinations aimed at hyperbilirubinemia, elevated transaminases, hypoalbuminemia, hypocholesterolemia and elevated prothrombin time. A diagnosis of acute fatty liver of pregnancy was made. He entered the waiting list for liver transplantation. Subsequently it evolved with spontaneous improvement of the liver function and was able to extubate after two weeks of hospitalization. Discussion: The development of acute fatty liver of pregnancy is infrequent and potentially serious due to early termination of pregnancy and management in critical patient units due to its high mortality.

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is also strong evidence for environmental contribution to ASD, which can be mediated by still poorly explored epigenetic modifications. We searched for methylation changes on blood DNA of 53 male ASD patients and 757 healthy controls using a methylomic array (450K Illumina), correlated the variants with transcriptional alterations in blood RNAseq data, and performed a case-control association study of the relevant findings in a larger cohort (394 cases and 500 controls). We found 700 differentially methylated CpGs, most of them hypomethylated in the ASD group (83.9%), with cis-acting expression changes at 7.6% of locations. Relevant findings included: (1) hypomethylation caused by rare genetic variants (meSNVs) at six loci (ERMN, USP24, METTL21C, PDE10A, STX16 and DBT) significantly associated with ASD (q-value <0.05); and (2) clustered epimutations associated to transcriptional changes in single-ASD patients (n=4). All meSNVs and clustered epimutations were inherited from unaffected parents. Resequencing of the top candidate genes also revealed a significant load of deleterious mutations affecting ERMN in ASD compared with controls. Our data indicate that inherited methylation alterations detectable in blood DNA, due to either genetic or epigenetic defects, can affect gene expression and contribute to ASD susceptibility most likely in an additive manner, and implicate ERMN as a novel ASD gene.

Enfermedad de orina con olor a jarabe de arce: reporte de dos casos / Maple urine disease: two case reports

Introducción: La enfermedad de orina con olor a jarabe de arce (EOJA) es un trastorno del metabolismo de los aminoácidos de cadena ramificada (ACR). Tiene una incidencia de 1 en 85.000­185.000 recién nacidos (RN) vivos, siendo mayor en poblaciones con alta tasa de consanguineidad. Se debe al déficit del complejo enzimático BCKDC (Branched-chain alpha-keto acid dehydrogenase complex). Objetivo: Sensibilizar respecto al diagnóstico precoz, describiendo la presentación y evolución clínica de 2 casos presentados en menos de un año. Presentación del caso: Caso 1: Recién nacido de término (RNT), sin antecedentes mórbidos personales ni familiares, consulta al 11er día de vida (DDV) por cuadro de irritabilidad, rechazo alimentario, mirada fija e hipertonía. Hospitalizado por 55 días con progresiva mejoría neurológica. Al alta solo leve retraso del desarrollo psicomotor (RDSM). Caso 2: RNT, sin antecedentes mórbidos personales ni familiares, consultó al 12° DDV por cuadro de hipoactividad y rechazo alimentario. Hospitalizado por 70 días con evolución clínica y neurológica dificultosa. Al alta con trastorno deglutorio que requirió gastrostomía. En ambos casos se planteó sospecha de EOJA por aminoacidemia y aminoaciduria característica, confirmándose por medición cuantitativa de aminoácidos. Discusión: Existen cinco fenotipos diferentes, clasificados principalmente por presentación clínica y edad de debut, siendo el más frecuente la forma clásica (ambos casos). Resulta muy importante el diagnóstico precoz y manejo por su relación con el pronóstico neurológico, sin embargo, en Chile no se cuenta actualmente con un screening neonatal universal. El tratamiento se basa en un manejo nutricional estricto y la corrección de desequilibrios metabólicos e hidroelectrolíticos, ambos frecuentes en esta condición.

Introduction: The maple syrup urine disease (MSUD) is a metabolic disorder of branchedchain amino acids. It has an incidence of 1/85000 ­ 185000 live newborns being higher in in populations with a high rate of consanguinity. It is due to deficit BKDC enzyme complex (Branched-chain alpha-keto acid dehydrogenase complex). Objective: To raise awareness to early diagnosis, describing the presentation and clinical course of 2 cases presented in less than one year. Case report: Case 1: Full-term newborn with no personal or family history of morbidity presented the 11th day of life with irritability, food rejection, fixed stare and hypertonia. He was hospitalized for 55 days with progressive neurological improvement. At discharge only slightly delayed psychomotor development. Case 2: Full-term newborn with no personal or family history of morbidity presented the 12th day of life with hipoactivity and food rejection. He was hospitalized for 70 days with difficult clinical and neurological outcome. The patient was discharged with swallowing disorder that required gastrostomy. In both cases MSUP suspicion arises by aminoacidemia and aminoaciduria and confirmed by quantitative measurement of amino acids. Discussion: There are 5 different phenotypes classified chiefly by clinical presentation and age, being most frequent the classical form. It is very important to do an early diagnosis and management for its impact on neurological outcome; however, Chile does not currently has an universal neonatal screening. The treatment is based on a strict nutritional management and correction of metabolic and electrolyte imbalances, both common in this condition.

Leiomioma retroperitoneal: reporte de un caso / Retroperitoneal leiomyoma: report of a case

Introducción: El mioma retroperitoneal es un tumor de músculo liso con baja incidencia, de etiología variada, siendo lo más frecuente debido a una larga exposición a estrógenos. Presentación del caso: Mujer de 52 años, con antecedentes de diabetes mellitus tipo 1 e hipotiroidismo, consultó por irregularidad menstrual de 1 año de evolución. Al examen físico destacó una masa abdominal palpable y al tacto rectal abombamiento del fondo de saco posterior. Una ecografía transvaginal mostró una lesión sólida retro-uterina de 90x67x79mm por lo que se planteó como hipótesis diagnóstica un tumor pélvico, sin poder descartar origen anexial. Exámenes de laboratorio resultaron normales con marcadores tumorales negativos. Durante el intraoperatorio se identificaron anexos sanos y una masa retroperitoneal por lo que se decidió realizar tumerectomía y anexectomía izquierda por riesgo de bridas. La biopsia resultó compatible con neurilemoma, pero mediante inmunohistoquímica se confirmó diagnóstico de leiomioma. Cursó postoperatorio en buenas condiciones. Discusión: El leiomioma retroperitoneal es un diagnóstico diferencial de tumor retroperitoneal, a pesar de su baja incidencia y menor frecuencia que una tumoración maligna. Sus presentaciones clínicas más frecuentes son como masa abdominal palpable, distensión abdominal o asintomática. Actualmente ningún examen de laboratorio o imagenológico, ha demostrado una alta precisión para discriminar entre un tumor maligno y uno benigno, por lo cual, su confirmación sigue dependiendo de la biopsia excisional. La probabilidad de recurrencia es baja, sin embargo, si esta se presenta, puede deberse a un tumor maligno, por lo que es recomendable un adecuado seguimiento clínico e imagenológico de estas pacientes.

Introduction: The retroperitoneal myoma is a smooth muscle tumor with a low incidence, of varied etiology, being the most frequent due to a long estrogen exposure. Case report: Woman, 52 years old, with a history of diabetes mellitus type 1 and hypothyroidism who consulted for menstrual irregularity of 1 year of evolution. The physical examination revealed a palpable abdominal mass and rectal touch of the posterior recumbent sac. A transvaginal ultrasound showed a solid retro-uterine lesion of 90x67x79mm, so it was diagnosed a pelvic tumor, without being able to rule out adnexal origin. Laboratory tests were normal with negative tumor markers. During the intraoperative period, were identified healthy appendages and a retroperitoneal mass, so it was decided to perform tumerectomy and left annexectomy for the risk of flanges. The biopsy was compatible with neurilemoma, but by means of immunohistochemistry a diagnosis of leiomyoma was confirmed. Came postoperative in good condition. Discussion: Retroperitoneal leiomyoma is a differential diagnosis of retroperitoneal tumor, despite its low incidence and less frequent than a malignant tumor. Its most frequent clinical presentations are palpable abdominal mass, abdominal distension or asymptomatic. At present, no laboratory or imaging examination has shown a high precision to discriminate between a malignant tumor and a benign one, so that its confirmation still depends on the excisional biopsy. The probability of recurrence is low, however, if it is present, it may be due to a malignant tumor, which is why it is advisable to have adequate clinical and imaging follow-up of these patients

Non-absorbable sutures are associated with lower recurrence rates in laparoscopic percutaneous inguinal hernia ligation.

INTRODUCTION: Laparoscopic hernia repair with percutaneous ligation of the patent processes vaginalis is a minimally invasive alternative to open inguinal herniorrhaphy in children. With the camera port concealed at the umbilicus, this technique offers an excellent cosmetic result. It is also faster than the traditional laparoscopic repair with no differences in complication rates or hospital stay. The goal of this study was to describe a series of consecutive patients, emphasizing the impact of suture materials (absorbable vs. non-absorbable) on hernia recurrences. METHODS: A retrospective review was performed of consecutive transperitoneal laparoscopic subcutaneous ligations of a symptomatic hernia and/or communicating hydrocele by 4 surgeons. Patients > Tanner 2 or with prior hernia repair were excluded. The success of the procedure and number of sutures used was compared between cases performed with absorbable vs. non-absorbable suture. Risk factors for surgical failure (age, weight, number of sutures used, suture type) were assessed with logistic regression. RESULTS: 94 patients underwent laparoscopic percutaneous hernia ligation at a mean age of 4.9 years. Outcomes in 85 (90%) patients with 97 hernia repairs at a mean of 8 months after surgery revealed 26% polyglactin vs 4% polyester recurrences (p = 0.004) which occurred at mean of 3.6 months after surgery, Table 1. Repairs performed with non-absorbable suture required only 1 suture more often than those performed with absorbable suture (76% vs 60%, p = 0.163). Logistic regression revealed suture type was an independent predictor for failure (p = 0.017). Weight (p = 0.249), age (p = 0.055), and number of sutures (p = 0.469) were not significantly associated with recurrent hernia. DISCUSSION: Our review of consecutive hernia repairs using the single port percutaneous ligation revealed a significantly higher recurrent hernia rate with absorbable (26%) versus non-absorbable (4%) suture. This finding remained significant in a logistic regression model irregardless of number of sutures placed, age, and weight. Though the authors acknowledge the drawback of the potential for learning curve to confound our data, we still feel these findings are clinically important as this analysis of outcomes has changed our surgical practice as now all providers involved perform this procedure with exclusively non-absorbable suture. We thus suggest that surgeons who perform this technique, especially those newly adopting it, use non-absorbable suture for optimal patient outcomes. CONCLUSIONS: Recurrent hernia after laparoscopic percutaneous hernia ligation was significantly lower in repairs performed with non-absorbable suture. Based on this data, we recommend the use of non-absorbable suture during laparoscopic ligation of inguinal hernias in children.