[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated.

[Congenital pulmonary capillary hemangiomatosis in a newborn].

Pulmonary capillary hemangiomatosis is a rare entity characterized by the proliferation of capillaries into alveolar walls, interlobular septa, pleura and pulmonary interstitium, without malignant characteristics, with almost constant association with pulmonary hypertension. Until now two cases of congenital presentation have been reported in the literature. This is the third case in a newborn; he has not followed the usual pattern associated with pulmonary hypertension as occurs in most patients with this pathology; the highest incidence is among 20-40 years old.

[Subtrochanteric fracture in children treated with minimally invasive surgery: case report].

Subtrochanteric fractures in children are rare events that occur in only 4% of all femur fractures; most injuries occur as a result of high-energy trauma, being young male patients the most affected. The management of this type of injury is controversial; there are many forms of treatment, including the use of plaster spica 90-90, closed reduction and use of elastic or rigid intramedullary nails, open reduction and plate placement, and the use of external fixators. Most suggest that for children under 10 a nonoperative approach should be preferred and that older ones should be managed surgically, but it is between six and 12-year-olds that most of the controversy exists.

[Surgical treatment of subtrochanteric fractures in children].

Subtrochanteric fractures in children are rare events, occur in only 4% of all femur fractures, most injuries occur as a result of high energy trauma, being young males patient the most affected. The management of this type of injury is controversial, there are many forms of treatment, including the use of plaster spica 90-90, closed reduction and use of elastic or rigid intramedullary nails, open reduction and plate placement and external fixators. Most suggest that children under 10 should be preferred non-operative and for older than 12 surgical management is indicated, but the discussion is between 6 and 12 years old.

No effect of mercury exposure on kidney function during ongoing artisanal gold mining activities in Colombia.

This cross-sectional study examined whether people who are exposed to mercury (Hg) vapours in ongoing artisanal gold mining activities have alteration in kidney function monitoring parameters. The study enrolled 164 miners and 127 participant controls. The Hg concentrations for miners and control participants were measured in blood (B-Hg; median 7.

Acute Dislocation of the Metacarpal-Trapezoid Joint.

The trapezoid metacarpal dislocation is a rare event. In the literature, it is found in case reports. This injury is caused by direct or indirect high energy trauma.

[Retroperitoneal malignant peripheral nerve sheath tumor a preschool child].

Background: Malignant tumors of peripheral nerve sheath (MPNSTs for its acronym in English) are aggressive sarcomas that occur generally in adulthood and are located mainly on the trunk and lower limbs, with a high association with neurofibromatosis type 1 (NF1).

Case Report: A 34-months-old female infant without NF1 with a palpable abdominal mass is described. The mass corresponded to a retroperitoneal MPNST.

Procalcitonin (PCT) levels for ruling-out bacterial coinfection in ICU patients with influenza: A CHAID decision-tree analysis.

Objectives: To define which variables upon ICU admission could be related to the presence of coinfection using CHAID (Chi-squared Automatic Interaction Detection) analysis.

Methods: A secondary analysis from a prospective, multicentre, observational study (2009-2014) in ICU patients with confirmed A(H1N1)pdm09 infection. We assessed the potential of biomarkers and clinical variables upon admission to the ICU for coinfection diagnosis using CHAID analysis.

[Mucopolysaccharidosis: clinical features, diagnosis and management].

The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination.

Approach to prediagnostic clinical semiology, noticed by mothers, of childhood acute lymphoblastic leukemia.

Introduction: Recognizing early symptoms of acute lymphoblastic leukemia (ALL) may help to make an early diagnosis. The objective of this study is to identify clinical manifestations preceding the diagnosis of childhood ALL from the maternal perspective and to establish the time elapsed from the first manifestation to the diagnosis.

Case Study: Six hospitals located in Bogotá and Bucaramanga (Colombia) participated.

Acute lymphoblastic leukemia in a 2-year-old girl whose mother was previously diagnosed with antiphospholipid syndrome: a case report.

Background: The role of maternal exposures and conditions in the origin of childhood cancer has been a subject of growing interest, but current evidence is inconclusive.

Case Presentation: We present a case detected in a multicenter case-control study evaluating the association between parental risk factors and childhood acute lymphoblastic leukemia (ALL). The patient is a Colombian girl who was diagnosed with ALL-L1 when she was 2 years old.

[Hemiparesis and facial palsy caused by methotrexate].

Methotrexate used in the treatment of acute lymphocytic leukemia, can cause neurotoxicity, including a rare presentation with hemiparesis. We describe two teenagers, who during the implementation of the M phase of the protocol, suffered hemiparesis, facial paresis and dysarthria which quickly reversed. Leukemia involvement of the central nervous system and stroke, were ruled out.

[Costs associated with nosocomial pneumonia in Universitary Hospital of Santander-Colombia, 2007-2009].

Objective: Estimate the excess of costs associated with nosocomial pneumonia not related to mechanical ventilation and clinical interventions that influence the cost.

Methods: A paired cohort study by time of occurrence of nosocomial event. The exposed groups were patients with nosocomial pneumonia and unexposed patients without this infection, whose diagnosis by the time of admission into the hospital was similar.

[Human rabies encephalitis by a vampire bat bite in an urban area of Colombia].

Human rabies encephalitis by a vampire bat bite in an urban area of Colombia A case of rabies encephalitis is presented in a teenaged male, which developed four months after a bat bite in the urban area of Floridablanca, Santander Province, Colombia. The complex clinical manifestations prevented the confirmation of an antemortem diagnosis, principally because of the lengthy incubation period and the absence of other similar urban cases. Despite application of several therapies, including the Milwaukee protocol, the patient died 19 days after hospital admission.

[Congenital tuberculosis associated with maternal disseminated miliary tuberculosis].

Untreated tuberculosis during pregnancy presents a serious risk for transmission of disease to the newborn and can result in adverse perinatal and obstetrical outcomes. Tuberculosis during pregnancy and congenital tuberculosis are infrequent conditions and are difficult to diagnose due the non-specificity of the symptoms. A case report is presented of a woman who had no children previously with disseminated miliary tuberculosis.