Severe pulmonary hypertension and circulatory failure associated with Congenital syphilis. Case report.

BACKGROUND: Congenital syphilis is a vertical infection caused by Treponema pallidum. Despite the implementation of preventive strategies during pregnancy, its incidence is increasing, and it constitutes an important public health problem. Most patients with congenital syphilis are asymptomatic; however, a small group may develop severe disease at birth with the need of advanced resuscitation in the delivery room, acute hypoxemic respiratory failure, and hemodynamic instability. Therefore, awareness is needed. METHODS AND RESULTS: This series describes the clinical course of two late preterm infants with congenital syphilis who developed acute hypoxemic respiratory failure, pulmonary hypertension, and circulatory collapse early after birth. Integrated hemodynamic evaluation with neonatologist-performed echocardiography (NPE) and therapeutic management is provided. CONCLUSIONS: A comprehensive hemodynamic evaluation including early and serial functional echocardiography in these patients is needed to address the underlying complex pathophysiology and to help to establish accurate treatment.

Mathematical model of thrombin generation and bleeding phenotype in Amish carriers of Factor IX:C deficiency vs. controls.

INTRODUCTION: Factor IX:C (FIX:C) levels vary in hemophilia B carriers even in pedigrees with a unifying genetic defect. Analyzing the balance between pro-and anticoagulants might increase our understanding of carriers' bleeding potential. AIM: In this research study, we evaluated bleeding scores (BS) and a novel mathematical model of thrombin generation (TG) in Amish FIX:C deficient carriers and controls. METHODS: Blood samples and BS were obtained from post-menarchal females, including 59 carriers and 57 controls from the same extended pedigree. Factors II, V, VII, VIII, IX, X, antithrombin, tissue factor pathway inhibitor and protein C were assayed to generate mathematical models of TG in response to 5pM tissue factor (TF) and for TF + thrombomodulin. BS was based on a modification of the MCMDM-1VWD scoring system. RESULTS: Carriers had a lower mean FIX:C (68% vs. 119%), von Willebrand factor antigen (108 vs.133) and Tissue activatable fibrinolysis inhibitor (103 vs. 111) compared to controls; both groups had a similar mean BS. Carriers demonstrated significantly lower TG parameters on both mathematical models compared to controls. Carriers with FIX:C ≤ 50% had lower TG curves than those >50% but similar BS. CONCLUSION: Thrombin generation showed significant differences between carriers and controls, between low (≤50%) and high (>50%) FIX:C carriers, and specifically in the TF + thrombomodulin model, between high FIX:C carriers and controls, although the BS were not different.

What to do with an obstructed newborn. / Qué hacer con el recién nacido obstruido.

Bowel obstruction is the most common abdominal emergency in newborns. Managing bowel obstruction is a challenge for both clinicians and radiologists. The clinical presentation is nonspecific, and both the diagnosis and subsequent management are based on imaging studies. The traditional approach to studying obstructed newborns consists of plain-film abdominal X-rays and contrast-based studies of the gastrointestinal tract. Ultrasonography has proven useful in bowel obstruction, thus avoiding the use of ionizing radiation in certain cases, so diagnostic strategies should include it as a first-line technique. Using an appropriate combination of these techniques, it is possible to reach an accurate diagnosis quickly, orienting treatment and decreasing complications.

[Epidemic outbreak of tuberculosis in a daycare centre in Zaragoza (Spain)]. / Brote epidémico de tuberculosis en una guardería de Zaragoza.

OBJECTIVE: To describe the clinical and radiological features, diagnosis, and treatment of an epidemic outbreak of tuberculosis in a daycare centre in Zaragoza. MATERIAL AND METHODS: The index case was a teaching assistant with a late diagnosis of bacilliferous tuberculosis. Mantoux testing was carried out in all children. In those with a positive Mantoux test, a chest X-ray was performed. Children with an abnormal chest X-ray underwent microbiological investigations. RESULTS: Among all the children in the daycare center, the Mantoux test was positive in 11 children. Chest X-ray was abnormal in 10 children. Of these, seven (70 %) were symptomatic. Chest X-ray showed dense opacification in nine children (90 %) and mediastinal lymph adenopathy in five (50 %). Three children (30 %) had lobar atelectasis requiring bronchoscopy and subsequent steroid therapy. Bacilloscopy was positive in only one child. Gastric juice culture was positive in seven children and the amplified Mycobacterium tuberculosis direct test was positive in a further seven. All microbiological investigations were negative in only one child. CONCLUSIONS: Establishing a definitive diagnosis of tuberculosis in children remains difficult and frequently relies on a constellation of clinical findings, radiology and epidemiology in children with a positive Mantoux test. The amplified Mycobacterium tuberculosis direct test has high sensitivity and provides fast results. Epidemic outbreaks continue to be frequent in Spain. Study of contacts shows high efficiency in controlling outbreaks.

[Nontuberculous bacterial infection in immunocompetent children]. / Infección por micobacterias no tuberculosas en inmunocompetentes.

Nontuberculous or environmental mycobacterial disease in children has been increasingly recognized over the last decade. We present four patients who were diagnosed in the year 2000. The children were aged between 2 and 8 years. Three patients presented involvement of the cervical lymph nodes and one presented involvement of the inguinal nodes. Three of the children were treated with a combination of surgery and chemotherapy and one was treated with chemotherapy alone. We describe the clinical characteristics, laboratory findings, therapeutic management and complications of nontuberculous mycobacterial lymphadenitis in children.