Osteogénesis imperfecta, reporte de un caso / Osteogenesis imperfecta, a case report

INTRODUCCIÓN: La osteogénesis imperfecta (OI) es un trastorno hereditario del tejido conectivo fenotípicamente heterogéneo. Formas leves de OI suelen presentar fragilidad ósea mínima y estatura normal pudiendo manifestarse sólo por osteoporosis precoz o pérdida mineral ósea grave posmenopáusica. El cuadro moderado - severo presenta fracturas múltiples con trauma mínimo (o nulo) y deformidades óseas de grado variable. Forma más severa produce la muerte en el período perinatal. PRESENTACIÓN DEL CASO: Lactante varón 2 años 7 meses, nacido de término por parto normal, pequeño para edad gestacional severo, primogénito de madre adolescente y padre con antecedente OI. Se mantuvo hospitalizado para control de crecimiento ponderal, no encontrándose patología agregada. Tras alta, paciente fue citado a policlínico de genética por antecedente OI, sin asistir. Al año de edad, fue derivado por fractura fémur derecho posterior a trauma aparentemente mínimo, hospitalizándose para manejo con observación de OI y probable violencia intrafamiliar. Primera evaluación genética no impresionó OI, luego endocrinología solicitó estudio bioquímico y radiológico completo ambulatorio. Posteriormente, consultó por fractura fémur izquierdo con fractura tibial derecha previamente no diagnosticada. Tras reevaluación genética, destacaban retraso de talla y múltiples dismorfias corcordantes, diagnosticándose OI leve-moderada por clínica y antecedente familiar. Equipo endocrinología inició tratamiento con bifosfonatos. Evoluciona con fractura codo y nueva fractura fémur derecho tras caída. DISCUSIÓN: La OI es una patología frecuente con manifestaciones heterogéneas con diagnóstico sencillo ante fragilidad ósea, manifestaciones extraesqueléticas e historia familiar positiva. El diagnóstico y tratamiento oportuno permitirían minimizar complicaciones y maximizar capacidad funcional.

INTRODUCTION: The osteogenesis imperfecta (OI) is a phenotypically heterogeneous hereditary connective tissue disease. The mild forms of OI tends to show minimum fragility on bones and normal height which could only be manifested as an early osteoporosis or serious postmenopausal bone density loss. The severe clinic picture shows multiple fractures with minimum trauma and bone deformity. The most severe form causes perinatal death. CASE REPORT: A breastfed infant boy of two years and seven months, born by natural birth, very small for gestational age, first born of a teenage mother and a father with OI. He was, first hospitalized for weight and growth control. No pathological findings were recognized. After the discharge, he did not attend to the genetic control. At one year old, he was sent with a right femur fracture after a minimum trauma. He was hospitalized suspecting OI and possible domestic violence. A first genetic evaluation did not match with OI, then endocrinology requested a complete radiological study. The biochemical study was normal. Then, he presented left femur and right tibia fracture. The genetic reevaluation, found multiple dysmorphic characteristic and late size development, which confirmed a mild form of OI. A biphosphonates treatment was initiated. DISCUSSION: The OI is a frequent disease with heterogeneous manifestations. The diagnosis is simple, bases on bone fragility, extra skeletal manifestations and familiar history. An early diagnosis and treatment could minimize complications and maximize mobility and functional capacity.

Phase II study of gemcitabine plus oxaliplatin as first-line chemotherapy for advanced non-small-cell lung cancer.

This phase II study evaluated the response rate and tolerability of gemcitabine-oxaliplatin chemotherapy in non-small-cell lung cancer (NSCLC) patients. Chemonaive patients with stage IIIB or IV NSCLC received gemcitabine 1000 mg m(-2) on days 1 and 8, followed by oxaliplatin 130 mg m(-2) on day 1. Cycles were repeated every 21 days for up to six cycles. From February 2002 to May 2004, 60 patients were enrolled into the study in seven Italian institutions. We observed one complete response (1.7%) and 14 partial responses (23.3%), for an overall response rate of 25.0% (95% confidence interval, 14.7-37.9%). The median duration of response was 5.9 months (range 1.5-17.1 months). With a median follow-up of 6.7 months, median time to progressive disease and overall survival were 2.7 (range 1.9-3.4 months) and 7.3 months (range 7.2-8.6 months), respectively. The main grade 3-4 haematological toxicities were transient neutropenia in 11.7% and thrombocytopenia in 8.3% of the patients. Nausea/vomiting was the main grade 3-4 nonhaematological toxicity, occurring in 10.0% of the patients. Two (3.3%) patients developed grade 3 neurotoxicity. Our results show that gemcitabine-oxaliplatin chemotherapy is active and well tolerated in patients with advanced NSCLC, deserving further study, especially for patients not eligible to receive cisplatin.

[Splenic embolization and hepatic chemoembolization: combined transcatheter treatment of hepatocellular carcinoma in cirrhosis with hypersplenism]. / Embolizzazione splenica e chemioembolizzazione epatica: trattamento combinato transcatetere del carcinoma epatocellulare su cirrosi con ipersplenismo.

Liver cirrhosis with hypersplenism is often associated with HCC. In many such cases, chemoembolization (TACE) may be very difficult because of the high incidence of hemorrhagic complications due to treatment and/or following portal hypertension, as well as for poor hematologic tolerance to antiblastic drugs in cirrhotic patients. Six patients with nodular HCC and cirrhosis (Child B) with hypersplenism were treated by combined TACE and partial splenic embolization (PSE) to reduce splenic size and to improve hematologic and hepatic function rates. Actual and long-lasting (up to 6 months since TACE/PSE) positive results were observed in splenic size and in hepatic function synthesis, as well as on hematologic and hemocoagulation factors. The clinical-laboratory improvement following TACE/PSE allowed TACE to be completed in all cases, following the usual protocol based on 3 procedures. Therefore, in the patients with advanced/decompensated cirrhosis and hypersplenism associated with HCC, the combined one-step TACE/PSE treatment can be said to improve patients' tolerance to antiblastic drugs and to reduce the risk of hemorrhagic complications due to invasive radiologic procedures and/or to portal hypertension.

[Bone metastasis of hepatocellular carcinoma: observations in patients treated with transcatheter arterial chemoembolization]. / Metastasi ossee da carcinoma epatocellulare: osservazioni nei pazienti trattati con chemioembolizzazione arteriosa transcatetere.

Bone metastases from hepatocellular carcinoma (HCC) are fairly rare, their average occurrence rate being 7.3%. Seven cases of secondary bone lesions (2%) were observed in a series of 347 consecutive cases treated with transcatheter arterial chemoembolization (TACE). The conventional X-ray and the CT patterns of secondary bone involvement were studied, together with histologic features, tumor and cirrhosis stage, and follow-up results. Bone metastases were detected in the early stages of cirrhosis and HCC, which suggested that patients might experience long survival if adequately treated. On the other hand, due to the lower rate of bone metastases in our series than in untreated cases, TACE cannot be said to be of even partial value in the treatment of distant HCC metastases. At any rate, bone metastasis alone is not necessarily a sign of poor prognosis, if it is adequately treated with radio-chemotherapy.