French National Diagnostic and Care Protocol for antiphospholipid syndrome in adults and children.

Antiphospholipid syndrome (APS) is a chronic autoimmune disease involving vascular thrombosis and/or obstetric morbidity and persistent antibodies to phospholipids or certain phospholipid-associated proteins. It is a rare condition in adults and even rarer in children. The diagnosis of APS can be facilitated by the use of classification criteria based on a combination of clinical and biological features. APS may be rapidly progressive with multiple, often synchronous thromboses, resulting in life-threatening multiple organ failure. This form is known as "catastrophic antiphospholipid syndrome" (CAPS). It may be primary or associated with systemic lupus erythematosus (associated APS) and in very rare cases with other systemic autoimmune diseases. General practitioners and paediatricians may encounter APS in patients with one or more vascular thromboses. Because APS is so rare and difficult to diagnosis (risk of overdiagnosis) any suspected case should be confirmed rapidly and sometimes urgently by an APS specialist. First-line treatment of thrombotic events in APS includes heparin followed by long-term anticoagulation with a VKA, usually warfarin. Except in the specific case of stroke, anticoagulants should be started as early as possible. Any temporary discontinuation of anticoagulants is associated with a high risk of thrombosis in APS. A reference/competence centre specialised in autoimmune diseases must be urgently consulted for the therapeutic management of CAPS.

Long-term follow-up of children with haemophilia - low incidence of infections with central venous access devices.

This study reports on 15 years of experience, in a single haemophilia care centre in France, with central venous access devices (VADs) in children with haemophilia. Following the insertion of a central VAD, patients were requested to return to the hospital on a quarterly basis for a multidisciplinary appointment which included clinical examination, chest X-ray, cardiac and major vessels ultrasound and preventive fibrinolysis. The family was urged to return to the Haemophilia Care Centre if complications or problems occurred. The follow-up comprised 50 patients. Data were collected prospectively. The total number of days with a VAD was 86 461 days and the total number of times the VAD was used was 41 192 (approximately every other day). Mean duration of VAD placement was 1269 days (range 113-2794 days). There were 25 complications, of which 9 haematomas and 5 systemic infections. Two VADs, infected with Staphylococcus aureus, had to be replaced. The infection rate was calculated as 0.0578 infections/1000 catheter days. There were no cases of thrombosis. This study concluded that most VAD infections in children can be avoided, even in patients requiring intense, prolonged treatment. The very low infection rate was achieved through the efforts of a multidisciplinary team, combined with extensive training for all individuals involved, adherence to written protocols and specific monitoring measures.

Batch recall of French plasma-derived products due to variant Creutzfeldt-Jakob disease risk: the psychological impact on haemophilic patients, changes in their therapeutic demands and behaviour and ethical considerations.

The choice of plasma-derived products (PdP) vs. recombinant products (RP) for treating haemophilia is influenced by the infectious and perceived safety of the products. Batch recall of PdP due to the risk of variant Creutzfeldt-Jakob disease (vCJD) may have unfavourable psychological impacts on haemophilia patients and influence their product preferences. This study aimed to assess the psychological impact of batch recalls of PdP in six haemophilia patients and their therapeutic demands, and to discuss the ethical problems in physicians' management of this event. A survey was conducted using a new interview form and an existing anxiety and depression questionnaire. Batch recalls produce recurrent negative emotional outcomes in haemophiliacs and their families. The quality, understanding and efficiency of the batch recall announcements were unsatisfactory in some respects. Only one patient still had some of the vials in question, and only three patients understood the real reason for the batch recall. Four patients asked to change their PdP for RP; a fifth patient was considering doing so. Here, topics for discussion include the delivery of an unclear message to patients about a very uncertain risk of a frightening disease, the reasons to maintain PdP when RP are largely available, except in specific cases, and the related discomfort for caregivers. The ethical questions revealed by batch recalls and the high psychological impact of vCJD risk on patients can no longer be ignored, and require surveys assessing the rationales and choices of the healthcare authorities, manufacturers, prescribers and users.

Spontaneous obturator internus muscle haematoma: a new unpublished cause of ilioipelvic pain in haemophilia.

Obturator muscles haematoma are rarely reported. The most often reported cases are primary pyomyositis or posttraumatic haematomas occurring during pelvic fractures. We firstly report herein two cases of spontaneous obturator internus haematoma (OIH) in two haemophiliacs with inhibitor. Clinical data and imaging of two patients treated in our clinic are reported here according to previously defined criteria of OIH in posttraumatic situation. Both patients were children suffering from severe and moderate haemophilia A, respectively, with an inhibitor at the time of the event. The clinical feature was marked by an iliopelvic pain letting discussing hip haemarthrosis, appendicitis or iliopsoas haematoma. For both patients ultrasonography (US) failed to provide the diagnosis. Careful and repeated clinical examinations eventually lead to suspect obturator haematoma which was confirmed by abdominopelvic computed tomography (CT) and magnetic resonance imaging (MRI). Respectively, high dose of FVIII or rFVIIa regimen allowed a rapid control of the muscular bleeding in the low and high responder inhibitor patients. Spontaneous OIH may be added to the differential diagnosis of iliopelvic pain in severe forms of haemophilia. US still often performed at first in such case remains unhelpful; abdominopelvic CT or MRI should be performed to discriminate among different diagnoses, including OIH which stays probably undiagnosed.

[Pneumococci isolated from vaccinated children with pneumonia]. / Pneumocoques isolés dans les pneumonies d'enfants vaccinés.

Among 76 children fully vaccinated with 7-valent conjugate vaccine and subsequently hospitalized from 2006 to 2009 for community-acquired pneumonia, isolated or with empyema or pleuritis, 10 had confirmed pneumococcal infections. All pneumococci isolated with blood or pleural culture were non vaccine serotypes (1, 5, 7F, and 19A). The proportion of pneumococcal pneumonias was similar to that in two series from the same hospital before the vaccine era. These data show that the 13-valent conjugate vaccine could be useful in prevention of community-acquired pneumonia and that bacteriologic survey of community-acquired pneumonia remains necessary.

[Diagnosis of delayed puberty]. / Diagnostic des retards pubertaires.

Puberty is the phenomenon that conducts once to reproductive maturation. Delayed puberty (DP) is defined by the absence of testicular development in boys beyond 14 years old (or a testicular volume lower than 4 ml) and by the absence of breast development in girls beyond 13 years old. DP occurs in approximatively 3% of cases. Most cases are functional DP, with a large amount of constitutional delay of puberty. Others etiologies are hypogonadotrophic hypogonadism like Kallmann syndrome, or hypergonadotrophic hypogonadism. Turner syndrome is a diagnostic one should not forget by its frequency. Treatment is hormonal replacement therapy and of the etiology. During the last decade, many genes have been identified and elucidated the etiological diagnosis of some hypogonadotrophic hypogonadism syndrome. Further studies are required in collaboration with molecular biologists to better understand the mechanism of hypothalamic pituitary gonadal axis abnormalities and of the neuroendocrine physiology of the onset of puberty.