Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.

Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was the molecular and structural characterization of two heterozygous in-frame deletions, leading to β-globin variants in pediatric patients in Argentina.

Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome comprising familial/genetic HLH (FHL) and secondary HLH. In the HLH-94 study, with an estimated 5-year probability of survival (pSu) of 54% (95% confidence interval, 48%-60%), systemic therapy included etoposide, dexamethasone, and, from week 9, cyclosporine A (CSA). Hematopoietic stem cell transplantation (HSCT) was indicated in patients with familial/genetic, relapsing, or severe/persistent disease.

[Recommendations for the prevention of organic foreign bodies aspiration].

Foreign body aspiration remains a common and potentially serious pediatric problem. Most aspirated foreign bodies are food. The education of parents and caregivers about choking hazards and how to avoid them is critical to reduce the incidence of these events.

[Post-intubation laryngeal granuloma: a rare complication of tracheal intubation in pediatrics. Case report].

Laryngeal granulomas are benign lesions located in the posterior third of the glottis, mainly at the level of the vocal apophysis of the arytenoid cartilage. They are typically associated with three etiological factors: endotracheal intubation, inappropriate voice use and/or gastroesophageal reflux. The formation of a post-intubation laryngeal granuloma is a late complication related to intubation injury.

[Bronchial mucoepidermoid carcinoma in childhood. Case report].

Bronchial tumors are rare in children. Most of them are malignant, being the carcinoid tumor the most common. Less frequently the mucoepidermoid carcinoma is found in the tracheobronchial tree.

[Foreign body in the esophagus as a cause of respiratory symptoms in children. Clinical cases].

Foreign bodies in esophagus are avoidable accidents that occur most often in children younger than 3 years. The most common presenting symptoms are dysphagia, drooling and vomiting. Occasionally a foreign body in the esophagus may present with respiratory symptoms such as cough, stridor and respiratory distress.

[Subglottic stenosis as the initial manifestation of Wegener's granulomatosis in a teenager. Case report].

Wegener's granulomatosis is a necrotizing granulomatous vasculitis of autoimmune origin that primarily affects the upper and lower airways and kidneys. It is very rare in children and adolescents. When started at a young age it is often associated with subglottic stenosis.

[Clinical management of child and adolescent psychiatric emergencies in patients with substance abuse disorders].

This paper addresses the problem of substance abuse disorders in child and adolescent patients within its frequent psychiatric emergency setting. It describes the clinical features that defne the high complexity of these cases, the current state of knowledge regarding clinical management of child and adolescent psychiatric emergencies in patients with substance abuse disorders, and the available treatment strategies in the metropolitan area of Buenos Aires, Argentina. Finally, this article delves into the existence of a metropolitan addiction treatment network, its community outreach and the obstacles it has to conquer in order to attain the international standards for the treatment of substance abuse disorders.

Endoscopic electrocauterization for congenital pyriform sinus fistula treatment in paediatrics. Case series.

Pyriform sinus fistulas are rare anomalies of the branchial arches. Most of them are located on the left side. They extend from the apex of the pyriform sinus of the hypopharynx to the thyroid gland or adjacent tissues.

[Childhood pemphigus vulgaris, a case report].

Pemphigus vulgaris is a chronic disease that is characterized by flaccid blisters and erosions, caused by immunoglobulin G autoantibodies against epidermal components. It is highly unusual in the pediatric population; it represents the 1.4 - 2.

Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.

Aims: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, reported to affect less than 2 cases per 100,000 infants. There are two types, permanent (PNDM) and transient (TNDM). We describe our clinical experience in determining and comparing the genetic basis of diabetes in children with onset before 6months versus those diagnosed between 6 and 12months of age.

Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia.

We describe here the molecular and hematological characteristics of novel frameshift mutations in exon 2 of the HBB gene (in heterozygous state) found in two Argentinean pediatric patients with dominant β-thalassemia-like features. In Hb Wilde, HBB:c.270_273delTGAG(p.

[Pott puffy tumor: case report].

We present the case of a child with frontal sinusitis, who also suffers from a severe intracranial disease. Although sinusitis intracranial issues are rare nowadays, they include a wide range of serious entities such as meningitis, brain abscesses and thrombosis of the cavernous sinus. We emphasize the importance of early diagnosis and an adequate initial empirical treatment to prevent possible complications.

[Antiretroviral treatment adherence and its association with TCD4+ lymphocyte subsets in children with HIV/AIDS].

Human immunodeficiency virus infection causes a severe depletion of TCD4+ lymphocytes and a sustained immune activation state, hallmarks findings that led to numerical and phenotypic changes in the TCD4+ subsets. Highly active anti-retroviral therapy has substantially modified the course of HIV infection. Correct adherence to the treatment results in a decrease in viral load at undetectable levels and a significant increase in the number of peripheral T cell lymphocytes.

[Anogenital warts and suspicion of child sexual abuse].

This article deals with anogenital warts (AGW) injuries caused by human papiloma virus (HPV) in children. Diagnosis, epidemiology, modes of transmission, differential diagnosis, relationship between AGW and cancer are descript. Also, it remarks the presence of AGW as indicator of child sexual abuse.

[Prevalence of thrombocytopenia in HIV infected children].

Thrombocytopenia is a common hematologic finding in patients infected with the human immunodeficiency virus. Multiple mechanisms may contribute to the development of chronic thrombocytopenia as immune-mediated platelet destruction, enhanced platelet splenic sequestration and impaired platelet production. Acute thrombocytopenia is frequently associated with coexisting disorders.

[Effects on natremia of the intravenous hypotonic fluid administration in hospitalized children with acute lower respiratory tract infection].

Introduction: Because of the risk of developing hyponatremia, intravenous hydratation prescription in children with lower respiratory tract disease (LRTD) is challenging.

Objective: To evaluate if intravenous hypotonic fluid administration in children with LRTD leads to hyponatremia.

Methods: Patients aged 1 month to 18 years, hospitalized for LRTD, requiring intravenous fluids were included.

[Intestinal cryptosporidiosis in HIV infected children].

Cryptosporydium parvum is an intracellular parasite that infects gastrointestinal epithelium and produces diarrhea that is self-limited in immunocompetent persons but potentially life-threatening in immunocompromised, especially those with the acquired immunodeficiency syndrome (AIDS). C. parvum enteric infection's incidence in a pediatric HIV/AIDS cohort, during a 6 years period, was studied.

[L-selectin expression on T lymphocytes and neutrophils in HIV infected children].

The ability of leukocytes to leave the circulation and migrate into tissues is a critical feature of the immune response. L-selectin (CD62L), the leukocyte selectin, mediates the binding of lymphocytes to high endothelial venules of peripheral lymph nodes and is also involved in lymphocyte, neutrophil and monocyte attachment to vascular endothelium at sites of inflammation. In this study L-selectin expression on peripheral T cells and neutrophils was evaluated in 25 HIV infected children, who had not received antiretroviral therapy, and 25 healthy controls.

[Behavior of soluble L-selectin in HIV infected children].

L-selectin is an adhesion molecule that is responsible for the initial attachment of leukocytes to endothelium. After leukocyte activation L-selectin is endoproteolytically released from the cell surface. In order to analyze the relationship between soluble L-selectin (sL-selectin) and parameters of immune activation and disease progression, 51 HIV infected children and 15 healthy controls were studied.

[Soluble intercellular adhesion molecule-1 (ICAM-1) levels in HIV infected children].

Intercellular adhesion molecule-1 (ICAM-1) is a membrane bound molecule that is involved in cell to cell adhesive interactions within the immune system. The aim of this study was to measure the concentrations of soluble ICAM-1 (s-ICAM-1) in 25 HIV-1 infected pediatric patients. We compared s-ICAM-1 values to parameters of immune activation--such as IgA and beta 2 microglobulin (beta 2 m) and viral replication such as adenosine deaminase (ADA).

[Insulin/glucagon relationship in spontaneous diabetic remission].

We define diabetic remission as the disappearance of clinical symptoms with normalization of blood glucose for a period over 15 days after withdrawal of insulin therapy. We studied 21 insulin-dependent diabetic children in remission (10 boys and 11 girls) and 29 normal children matched in age and sex as controls. Two tests were performed, intravenous glucose (IVGT) and glucose post-tolbutamide (PTGT).