Sepsis Definitions in Burns.

Background: Sepsis is the leading cause of death in burns. Despite its importance, sepsis lacks a proper definition. An established definition will lead to early and accurate diagnosis, prompt treatment, and a reduced mortality rate. The aim of this work is to discuss current definitions and to look ahead at novel definitions with clinical implications. Method: A review of the current understanding of sepsis definitions in burns. Results: Adaptation of sepsis definitions in the general population and specific burn definitions have gotten better but still need improvements and, potentially, incorporation of molecular, laboratory, patient-specific, and clinical factors. This work includes the history, evolution, and predictive value of current definitions of sepsis in burns. A review of current and future markers of sepsis and potentially useful definitions are presented. Conclusions: Sepsis definitions have evolved over the last decades and will continue to do so. We believe the best definition in burn patients is the Sepsis-3 that was developed originally for critically ill patients. However, there are several studies investigating more specific definitions with better sensitivity and specificity.

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

BACKGROUND: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. CASE PRESENTATION: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain. Exons 4 and 5 of the SP-C gene showed heterozygous Thr138Asn polymorphism and homozygous Asn186Asn polymorphism respectively. At intron 25 at position -98 from exon 26 a homozygous C>T transition mutation was detected in ABCA3 gene. CONCLUSIONS: The clinical presentation and the histopathological findings of this case are consistent with a case of neonatal respiratory failure due to surfactant deficiency. Analysis of the five coding SP-C exons does not support surfactant deficiency. An analysis of the mutation IVS25-98 T was performed and a homozygous mutation responsible for our case's neonatal respiratory failure was detected. The findings suggest an autosomic recessive pattern of inheritance. Genetic counseling was provided and the relatives are now informed of the recurrence risks and treatment options.

[Delayed diagnosis of juvenile Huntington's diseases: case report]. / Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso.

Huntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.

Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso / Delayed diagnosis of juvenile Huntington's diseases: case report

La enfermedad de Huntington es una enfermedad neurodegenerativa que se manifiesta con alteraciones motoras descritas típicamente como movimientos coreiformes, cambios en el estado de ánimo y pérdida de funciones cognitivas. El patrón de herencia de esta enfermedad es autosómico dominante. La alteración genética comprende una expansión inestable del triplete citosina, adenina, guanina en el gen que codifica la proteína huntingtina. La prueba molecular confirma el diagnóstico. El consejo genético debe ser prudente debido al alto riesgo de suicidio. Se presenta el caso de un joven de 14 años con una pobre red de apoyo y un cuadro clínico grave de esta enfermedad en el contexto de un patrón de herencia poco claro.

Huntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.

Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso / Delayed diagnosis of juvenile Huntingtons diseases: case report

La enfermedad de Huntington es una enfermedad neurodegenerativa que se manifiesta con alteraciones motoras descritas típicamente como movimientos coreiformes, cambios en el estado de ánimo y pérdida de funciones cognitivas. El patrón de herencia de esta enfermedad es autosómico dominante. La alteración genética comprende una expansión inestable del triplete citosina, adenina, guanina en el gen que codifica la proteína huntingtina. La prueba molecular confirma el diagnóstico. El consejo genético debe ser prudente debido al alto riesgo de suicidio. Se presenta el caso de un joven de 14 años con una pobre red de apoyo y un cuadro clínico grave de esta enfermedad en el contexto de un patrón de herencia poco claro.(AU)

Huntingtons disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.(AU)

Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: un reporte de caso. / [Delayed diagnosis of juvenile Huntingtons diseases: case report].

Huntingtons disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.

Mosaic trisomy 13 and a sacral appendage.

Mosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur. The phenotype of mosaic trisomy 13 patients varies widely. Patients with mosaic trisomy 13 usually have a longer survival and a less severe phenotype compared to patients with complete trisomy 13. Genetic counselling is difficult due to the wide variation among the clinical manifestations of these patients. There have been 49 cases of mosaic trisomy 13 reported in the literature. We report the case of a patient with mosaic trisomy 13, a sacral appendage and a cleft lip and palate.

[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity]. / Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable.

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.

Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable / Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity

El síndrome ectrodactilia, displasia ectodérmica y fisura de labio/paladar es una entidad poco frecuente, asociada a la mutación de genes que codifican la proteína p63. Presentamos un caso de un paciente con ectrodactilia en el pie derecho asociada a labio y paladar fisurados, sin otras alteraciones evidentes, con antecedente familiar de labio con paladar fisurado y muerte en el período perinatal. El manejo de cada caso de este síndrome debe ser específico y multidisciplinario.

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.

Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable / Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity

El síndrome ectrodactilia, displasia ectodérmica y fisura de labio/paladar es una entidad poco frecuente, asociada a la mutación de genes que codifican la proteína p63. Presentamos un caso de un paciente con ectrodactilia en el pie derecho asociada a labio y paladar fisurados, sin otras alteraciones evidentes, con antecedente familiar de labio con paladar fisurado y muerte en el período perinatal. El manejo de cada caso de este síndrome debe ser específico y multidisciplinario.(AU)

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.(AU)

Traumatic atlantoaxial rotatory subluxation in an adolescent: a case report.

INTRODUCTION: Atlantoaxial rotatory subluxation is rarely caused by trauma in adults. Usually, the treatment of choice is traction using Halo/Gardner-Wells fixation devices for up to six weeks. CASE PRESENTATION: We present the case of a 19-year-old Caucasian woman with traumatic atlantoaxial subluxation. Early reduction three hours after trauma and immobilization using only a soft collar were performed and yielded very good clinical results. CONCLUSION: In the adult population, atlantoaxial subluxation is a rare condition but is severe if untreated. Early treatment implies a non-surgical approach and a good outcome. Conservative treatment is the recommended first step for this condition.