Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

BACKGROUND: The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single reference center in Argentina. RESULTS: Forty-nine UCD cases were collected. About half (26/49, 53%) manifested neonatally with classical presentation and had a high mortality (25/26, 96%). Ornithine transcarbamylase deficiency (OTCD) was the most common UCD (26 patients). Argininosuccinate synthetase deficiency (ASSD) was detected in 19 cases, while argininosuccinate lyase deficiency (ASLD) was diagnosed in 4 cases. Molecular genetic analysis revealed 8 private OTC mutations and two large deletion/duplication events in the OTC gene. Most mutations in the ASS1 and ASL genes were recurrent missense changes, and four alterations were novel. The clinical outcome of our UCD cohort was poor, with an overall mortality of 57% (28/49 cases), and a 28% (6/21) disability rate among the survivors. CONCLUSIONS: Most patients in our case series showed severe neonatal onset, with high morbidity/mortality. We detected in total 19 mutations, most of them recurrent and of high frequency worldwide. Noteworthy, we highlight the presence of a geographic cluster with high prevalence of a point mutation in the ASS1 gene. This study suggests that these disorders may be more frequent than commonly assumed, and stresses the need for increased awareness amongst health professionals and greater availability of diagnostic tools for accurate identification, early diagnosis, and timely treatment.

Cuerpo extraño en vía aérea con lesión en Arteria Subclavia: caso clínico único / Foreign object in airway with lesion in Subclavian Artery: an only clinical case

Introducción: La aspiración por vía aérea de cuerpo extraño es una complicación común de las personas en los extremos de la vida, que pueden llegar a comprometer la vida, debido principalmente a obstrucción de la vía aérea. En ocasiones más graves y dependiendo del tipo de cuerpo extraño aspirado puede causar síntomas: hemoptisis, broncoespasmo, accesos de tos, disnea etc. Caso: Paciente de 67 años de edad, con antecedentes de ulcera duodenal, evaluado por dos ocasiones en urgencias por cuadros de melenas y hematemesis. Acudió nuevamente por sangrado digestivo y debido a descompensación hemodinámica y marcado descenso del hematocrito fue intervenido quirúrgicamente. Hallazgos operatorios: aneurisma de la arteria subclavia izquierda y cuerpo extraño de madera en la vía aérea. En el postoperatorio fue atendido en la UCI, donde luego de presentar múltiples complicaciones falleció al cabo de 12 días. Discusión: La importancia de este caso radica en la extraña lesión ocurrida por la migración de un cuerpo extraño que viajó desde la vía aérea, produciendo una hemorragia masiva que comprometió la vida del paciente.

Introducción: Airway foreing body aspiration is a common complication in both extremes of life, that might lead to death due to airway obstruction. In severe cases, depending on the foreign body kind, symptoms are: hemoptysis, bronchospasm, coughing, breathlessness etc. Case: A 67 male patient was admitted to the emergency room because of an upper gastrointestinal bleeding. Due to a new bleeding, surgery was performed to control the bleeding. Findings: left subclavian artery aneurism and a wooden foreign body in the midle airway tract. In the postoperative period, he was treated in the ICU, though, he passed away 12 days later due to several complications. Discusion: The importance of this case is the incrdthe odd subclavian artery injury caused by a foreign body that traveled from the airway, causing massive bleeding that put patient's life at risk.

Secuestro pulmonar en el adulto / Pulmonary sequestration in adults

Introducción: el secuestro pulmonar es una malformación congénita inusual que consiste en segmentos pulmonares afuncionales sin comunicación con el árbol traqueobronquial y un aporte sanguíneo a través de la circulación sistémica. Caso Clínico: nosotros presentamos el caso de una mujer con infecciones pulmonares a repetición en el lóbulo inferior izquierdo. Debido a múltiples infecciones en el mismo sitio y con la sospecha de secuestro pulmonar se realiza angiotomografía en donde se observa una arteria aberrante que proviene de la aorta torácica, confirmando el diagnóstico; posteriormente es resuelto quirúrgicamente. Conclusión: el secuestro pulmonar es una patología rara con mayor incidencia en la infancia sin embargo algunas variantes se pueden presentar en el adulto y la sintomatología de infecciones pulmonares a repetición nos hace sospechar en esta enfermedad.

Introduction: pulmonary sequestration is an unusual malformation consisting of isolated nonfunctioning lung segments lacking communication with functional tracheobronchial trees, with blood fow through the systemic circulation. Case report: we present the case of a woman with recurrent pulmonary infections in the left lower lobe. Because multiple infections in the same place, and with the suspicion of pulmonary sequestration, we perform a pulmonary angio tomography where aberrant artery that comes from the thoracic aorta is observed, confrming the diagnosis; which was then surgically resolved. Conclusion: pulmonary sequestration is a rare disease with highest incidence in childhood, but some variants may be present in adults and symptoms of recurrent pulmonary infections should make us suspicious of the disease.

Manual de implantação da coleta seletiva solidária nas Escolas Estaduais do Rio de Janeiro / Manual deployment of selective solidarity in Schools State of Rio de Janeiro

A metodologia do programa que tem como objetivo a destinação correta ao lixo reciclável e, assim, evitar que ele seja disposto em aterros sanitários