Aguilera R.P.,Servicio de Hematologia Pediatrica |
Santiago N.L.,Servicio de Hematologia Pediatrica |
Orozco A.M.,Servicio de Patologia Clinica |
Daza D.C.,Servicio de Patologia Clinica |
Salazar-Bailon J.L.,Servicio de Hematologia Pediatrica
Boletin Medico del Hospital Infantil de Mexico | Year: 2012
Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported. Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient's death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity. Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.
Carrillo-Esper R.,Servicio de Terapia Intensiva |
Castillo-Albarran F.M.,Servicio de Patologia Clinica |
Castillo-Albarran F.M.,Laboratorio Of Patologia Clinica |
Perez-Jauregui J.,Servicio de Patologia Clinica
Cirugia y Cirujanos | Year: 2011
Acute kidney injury (AKI) is a frequent complication in critically ill patients and is associated with high morbidity and mortality; therefore, its prophylaxis, diagnosis and intervention positively impact patient evolution. Neutrophil gelatinaseassociated lipocalin (NGAL) or lipocalin, a protein synthesized by renal tubular cells, has the property to transport lipophilic molecules such as vitamins, hormones and antigenic agents. It is a novel biomarker of AKI of several etiologies and is increased in both serum and urine 48 h before the increase of creatinine. It has a strong correlation with early diagnosis of AKI. NGAL is of the most investigated and promising biomarkers for early diagnosis of AKI in different clinical scenarios, most notably in sepsis, cardiorenal syndrome, cardiac surgery, kidney transplant, contrast nephropathy and hemolytic uremic syndrome. Lipocalin guides the early institution of therapeutic interventions to improve prognosis in AKI of several etiologies.
PubMed | Servicio de Patologia Clinica
Type: Case Reports | Journal: Revista chilena de infectologia : organo oficial de la Sociedad Chilena de Infectologia | Year: 2013
Sporotrichosis is a subcutaneous mycosis caused by Sporothrix complex, endemic in Abancay, Peru. Is acquired by traumatic inoculation with plant material. Common clinical presentations are lymphatic cutaneous and fixed cutaneous disease. We report 2 cases of fixed cutaneous sporotrichosis with granulomatous appearance. The first case was a patient of 65 years old with no risk factors and the second case was a 67 year old diabetic patient. Subjects underwent mycological culture with Sabouraud agar, with isolation of Sporothrix schenckii and clinical dignosis of fixed cutaneous sporotrichosis with granulomatous appearance. One patient received oral treatment with saturated solution of potassium iodide (SSKI) with a initial dose of 3 drops tid up to a maximum dose of 40 drops tid. Mycological and clinical cure was achieved after 2 months of treatment. We should consider the unusual clinical presentations of fixed cutaneous sporotrichosis with granulomatous appearance that present morphological and clinical features in diabetic and nondiabetic patients older than 60 years from endemic areas and communicate adequate response to treatment with SSKI in one case.