cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

This study describes a cblE type of homocystinuria associated with haemolytic-uremic syndrome (HUS) features. We report on a male infant aged 43 days presenting with failure to thrive, hypotonia, pancytopaenia, HUS symptoms (microangiopathic haemolytic anaemia and thrombocytopaenia with signs of renal involvement) and fatal evolution. An underlying cobalamin disorder was diagnosed after a bone marrow examination revealed megaloblastic changes associated with hyperhomocysteinaemia. An urinary organic acid analysis revealed normal methylmalonic acid excretion. The cblE diagnosis was confirmed with a complementation analysis using skin fibroblasts and genetic studies of the MTRR gene. The patient treatment included parenteral hydroxocobalamin, carnitine, betaine and folinic acid, but there was no response. After the autopsy, the histopathological examination of the kidneys showed marked myointimal proliferation and narrowing of the vascular lumen. The central nervous system showed signs of haemorrhage that affected the putamen and the thalamus; diffuse white matter lesions with spongiosis, necrosis and severe astrogliosis were also observed. Microangiopathy was observed with an increase in vessel wall thickness, a reduction of the arterial inner diameter and capillary oedema. The signs of necrosis and haemorrhage were detected in the cerebellum, the cerebellar peduncles, the tegmentum and the bulbar olives.In conclusion, cblE should be considered when diagnosing patients presenting with HUS signs and symptoms during the newborn period. Despite early diagnosis, however, the specific treatment measures were not effective in this patient.

SpO2/FiO2 as a predictor of non-invasive ventilation failure in children with hypoxemic respiratory insufficiency.

Generally, monitoring of hypoxemia has been always based on partial pressure of arterial oxygen to fraction of inspired oxygen ratio; recently it was confirmed a good correlation between this ratio and a non-invasive alternative ratio of oxygen saturation to fraction of inspired oxygen (SF ratio = SpO2/FiO2). The SF ratio has been studied and validated, especially in the intubated patients, however studies monitoring patients treated with non-invasive ventilation (NIV) are lacking. The aim of the study was to determine if the SF ratio is a reliable predictive factor for failure of NIV in pediatric patients diagnosed with hypoxemic acute respiratory failure due to pneumonia. A five year retrospective study with consecutive sampling of patients diagnosed with hypoxemic acute respiratory failure due to pneumonia, admitted to the pediatric intensive care unit in a university hospital and treated with NIV was conducted. Physiological and ventilator variables were collected before starting NIV and at 2, 8 and 12 hours of treatment, and the corresponding SF ratios calculated. Thirty-four patients were studied. NIV failed in seven patients. Significant differences in SF ratio were observed between the successful and unsuccessful patients at the onset, 2 and 12 hours of treatment. Multivariable analysis revealed the SF ratio at two hours to be an independent predictor of NIV failure (odds ratio = 0.96, 95% confidence intervals 0.93-0.99; P = 0.015). Area Under Receiver Operating Characteristic curve = 0.90 (95% confidence interval = 0.79 to 1.000), optimal cut off value for SF at 2 hours ≤ 189; sensitivity = 86%, specificity = 74%. In conclusion, the SF ratio of 189 or less at 2 hours of NIV seems to be useful for predicting NIV failure in this cohort.

Hepatopathy-thrombocytopenia syndrome after actinomycin-D therapy: treatment with defibrotide.

We report a case of administration compassionate use defibrotide in a 13-year-old girl with Sinusoidal Obstructive Syndrome and thrombocytopenia, also known as Hepatopathy--Thrombocytopenia Syndrome (HTS) during chemotherapy for Wilms' tumor.

Why lateral meniscectomy is more dangerous than medial meniscectomy. A finite element study.

Total meniscectomies are commonly thought to cause progressive degenerative arthrosis pathology in articular cartilage in a period of a few years because of alteration of the biomechanical environment including increased joint instability. This concern has lead to a preference for partial meniscectomies, although lateral partial meniscectomies sometimes lead to catastrophic results. We performed a three-dimensional finite element model of the human tibiofemoral joint to examine the effect of lateral meniscectomy on knee biomechanics. The results were compared to those from modeling a medial meniscectomy. Under axial femoral compressive loads, the peak contact stress and maximum shear stress in the articular cartilage increased 200% more after a lateral than a medial meniscectomy. These increased stresses could partly explain the higher cartilage degeneration observed after a lateral meniscectomy.

[Pseudoarthrosis of acromion due to politraumatism. Treatment with autologus graffting intercalar of iliac crest]. / Pseudoartrosis de acromion tras politraumatismo tratamiento con autoinjerto intercalar de cresta iliaca.

The fractures of the scapula are not very frequent, an incidence around the 0,4 and 1% of the fractures that affect the upper limb. The acromion fracture means the 7% of the fractures that affect to the scapula. They usually appear in politraumatized patients with more serious lesions that can mask them and postpose this way their diagnosis and treatment. We present a clinical case of a 56 year-old patient with the antecedent of politraumatism that presented a clear atrophic pseudoartrosis of the acromion of their right shoulder with painful clinic and movement limitation. It was treated with surgery by intercalary bone grafting fixed by osteosynthesis plate obtaining good clinical and radiological results. Actually the painful clinic has disappeared completely.

Pseudoartrosis de acromión tras politraumatismo tratamiento con autoinjerto intercalar y de cresta iliaca / Pseudoarthrosis of acromion due to politrumatism: treatment with autologus graffting intercalar of iliac crest

Las fracturas de la escápula son poco frecuentes una incidencia en torno al 0,4 Y el 1 % de las fracturas que afectan al miembro superior. La fractura de acromion comprende el 7% de las fracturas que afectan a la escápula'. Suelen aparecer en pacientes politraumatizados con lesiones más graves que pueden enmascararlas y post-poner de este modo su diagnóstico y tratamiento. Presentamos un caso clínico de una paciente de 56 años de edad con antecedente de politraumatismo. Que presentaba unas pseudo-artrosis francas del proceso acromial de su hombro derecho con clínica dolorosa y limitación de movimiento.Se trató de manera quirúrgica mediante el aporte de injerto óseo intercalar y fijación mediante placa de osteo-síntesis obteniendo buenos resultados clínico radiológicos a día de hoy. La clínica dolorosa ha desaparecido por completo a día de hoy.

The fractures of the scapula are not very frequent, an incidence around the 0,4 and 1 % of the fractures that affect the upper limb

Pseudoartrosis de acromión tras politraumatismo tratamiento con autoinjerto intercalar y de cresta iliaca / Pseudoarthrosis of acromion due to politrumatism: treatment with autologus graffting intercalar of iliac crest

Las fracturas de la escápula son poco frecuentes una incidencia en torno al 0,4 Y el 1 % de las fracturas que afectan al miembro superior. La fractura de acromion comprende el 7% de las fracturas que afectan a la escápula. Suelen aparecer en pacientes politraumatizados con lesiones más graves que pueden enmascararlas y post-poner de este modo su diagnóstico y tratamiento. Presentamos un caso clínico de una paciente de 56 años de edad con antecedente de politraumatismo. Que presentaba unas pseudo-artrosis francas del proceso acromial de su hombro derecho con clínica dolorosa y limitación de movimiento.Se trató de manera quirúrgica mediante el aporte de injerto óseo intercalar y fijación mediante placa de osteo-síntesis obteniendo buenos resultados clínico radiológicos a día de hoy. La clínica dolorosa ha desaparecido por completo a día de hoy.(AU)

The fractures of the scapula are not very frequent, an incidence around the 0,4 and 1 % of the fractures that affect the upper limb