3D Multi-segment foot kinematics in children: A developmental study in typically developing boys.

Background: The relationship between age and 3D rotations objectivized with multisegment foot models has not been quantified until now. The purpose of this study was therefore to investigate the relationship between age and multi-segment foot kinematics in a cross-sectional database.

Methods: Barefoot multi-segment foot kinematics of thirty two typically developing boys, aged 6-20 years, were captured with the Rizzoli Multi-segment Foot Model.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs.

Rotavirus surveillance in Kisangani, the Democratic Republic of the Congo, reveals a high number of unusual genotypes and gene segments of animal origin in non-vaccinated symptomatic children.

Group A rotavirus (RVA) infections form a major public health problem, especially in low-income countries like the Democratic Republic of the Congo (COD). However, limited data on RVA diversity is available from sub-Saharan Africa in general and the COD in particular. Therefore, the first aim of this study was to determine the genetic diversity of 99 RVAs detected during 2007-2010 in Kisangani, COD.

Venous thrombosis in a child with ulcerative colitis in remission: a case report.

Over the past 70 years, an association between venous thromboembolism and inflammatory bowel disease has been described. We report on a thirteen year old boy with ulcerative colitis and venous thrombosis. Literature on incidence of venous thromboembolism in inflammatory bowel disease (IBD) is reviewed as well as the possible pathogenetic mechanisms of this 'hypercoagulable state': role of acquired risk factors, inflammation, coagulation abnormalities and platelets.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal disease (ESRD). We searched for genotype-phenotype correlations in the largest series of consecutive MYH9-RD patients collected so far (255 cases from 121 families).

Olmsted syndrome: exploration of the immunological phenotype.

Background: Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome.

Methods: Genetic, clinical and immunological profiling was performed on a case study patient with the clinical diagnosis of Olmsted syndrome.

Obsessive-compulsive behavior as presenting symptom of primary antiphospholipid syndrome.

Objective: This study aimed to improve understanding and treatment of psychiatric symptoms in antiphospholipid syndrome (APS) and to present an approach to the medical management of patients presenting with obsessive-compulsive disorder (OCD) with suspected neurovascular pathology.

Method: A 15-year-old boy presented with severe OCD of recent onset. An infarct of the caudate nucleus was identified as the initial presentation of primary APS.

Antibiotic prescribing in DR Congo: a knowledge, attitude and practice survey among medical doctors and students.

Objectives: Antibiotic resistance (ABR) particularly hits resource poor countries, and is fuelled by irrational antibiotic (AB) prescribing. We surveyed knowledge, attitudes and practices of AB prescribing among medical students and doctors in Kisangani, DR Congo.

Methods: Self-administered questionnaires.

Factor VIII products and inhibitor development in severe hemophilia A.

Background: For previously untreated children with severe hemophilia A, it is unclear whether the type of factor VIII product administered and switching among products are associated with the development of clinically relevant inhibitory antibodies (inhibitor development).

Methods: We evaluated 574 consecutive patients with severe hemophilia A (factor VIII activity, <0.01 IU per milliliter) who were born between 2000 and 2010 and collected data on all clotting-factor administration for up to 75 exposure days.

Novel findings in the Marden-Walker syndrome.

Reports about the Marden-Walker syndrome mainly consist of sporadic cases. We describe a 14-year-old girl with the Marden-Walker syndrome who presented with a huge scalp hematoma. The case and the corresponding images demonstrate an association with a defective hemostasis, skin hyperlaxity, and impaired wound healing.

Propranolol as a novel treatment for congenital visceral haemangioma.

Haemangiomas are the most common soft tissue tumours in infancy, occurring in approximately 5-10% of 1-year-old children. Current drug-based therapeutic options for large haemangiomas include corticosteroids, α-interferon and vincristin, all of which can result in harmful side effects. Recently, promising results have been reported using the non-cardio-selective β-blocker propranolol for the treatment of cutaneous capillary haemangiomas, in which a spectacular size reduction was observed during the first 7 days of treatment.