Physiotherapy home exercise program for haemophiliacs.

BACKGROUND: Regular physiotherapy can improve the stability and flexibility of joints and decrease the bleeding risk in patients with haemophilia. To reduce the appointments for the patients and to make exercising a part of daily live, an individualized home exercise program (HEP) was designed. Retrospectively the number of bleedings during the HEP was compared to number of bleedings before. METHOD: 8 patients aged between 4 and 16 years with haemophilia A were evaluated. At start and after 13 month patients had a motion analysis via topographic ultrasound. According to the results and clinical findings an individualized HEP was created. Standardised scores for clinical evaluation and the patient based evaluation of exercises were designed. At every appointment exercises were individually adjusted. RESULTS: Patients exercised in median 1.7 times a week. No training related bleeds occurred. 7 of 8 patients showed reduced joint and/or muscle bleeds (p<0.02). Clinical scores raised slightly in every patient. However the second motion analysis of squat and gait showed a worsening in 7 of 8 patients (p>0.05). CONCLUSION: A HEP can help to advance in physical fitness and coordination and may reduce bleeding tendency, but needs to be accomplished regularly. Patients are interested but the motivation to exercise at home is low. Disorders measured by motion analysis seem not to be sufficiently influenced by our surrogate training program.

Cat scratch disease--heterogeneous in clinical presentation: five unusual cases of an infection caused by Bartonella henselae.

BACKGROUND: Cat-scratch disease (CSD) is common in children, however the wide spectrum of the clinical presentation of CSD may lead to delayed diagnosis. An atypical presentation of CSD includes in its differential diagnosis diseases such as tuberculosis, other mycobacterioses, Epstein-Barr-Virus infection (EBV) or malignant disease. Since, in a small number of cases, these diseases may be present concurrently with an active CSD, it is important to consider CSD early in the differential diagnosis and order the appropriate tests. These tests include serology and, where possible, histology including molecular diagnostic methods on tissue specimens. PATIENTS AND METHOD: We performed a case series of five patients treated in our hospital with a clinical diagnosis of cat-scratch disease, confirmed by serology. An analysis of the history and clinical symptoms associated specifically with an atypical presentation of CSD was performed. RESULTS: The clinical presentation of CSD no longer encompasses the original typical description from 1950, but rather presents with a wide spectrum of signs and symptoms, including the absence of a documented cat scratch, fever, primary lesions or peripheral lymphadenopathy. Low density lesions in spleen, liver and lymph nodes are typical findings in ultrasound, MRI, or CT. Ignoring CSD as a possibility in investigating possible malignancy or tuberculosis could lead to unnecessary hospitalisation and delay in the proper treatment. CONCLUSION: CSD should also be considered in differential diagnosis of any patient with intraabdominal lymphadenopathy, abdominal pain and fever of unknown origin. A careful history is important, however, often patients with CSD have no history of contact with cats. Therefore in atypical cases of CSD the finding of other clinical symptoms and performance of specific diagnostic tests is important. Our experience suggests that early serological testing for Bartonella henselae should be performed and may avoid invasive diagnostic procedures.

Intracranial hemorrhage in a female leading to the diagnosis of severe hemophilia A and Turner syndrome.

BACKGROUND: Severe hemophilia A (HA) in females is a very rare phenomenon. Ignoring HA as a possible diagnose can result in fatal complications. PATIENTS: We report a 3-month old girl suffering from severe hemophilia A, presenting with intracranial hemorrhage three weeks after drop down from an infant carrier. Recurrent bleeding after neurosurgery led to the diagnosis of a HA by findings of low levels of factor VIII coagulation activity (F8:C) below 1% and normal levels of factor von Willebrand activity. METHODS: Diagnosis of hemophilia A by one stage clotting test and proof by molecular studies via long - range - PCR. Chromosome analysis in metaphases from peripheral blood lymphocytes. RESULTS: Molecular analysis showed inversion of intron 22 as the result of a maternally inherited, distal, F8 gene inversion and chromosome analyses a 45,X karyotype indicative of Turner syndrome in our patient. Diagnosis was hampered by the female sex and the presence of neither a family history of bleeding disorders nor clinical signs of Turner syndrome. CONCLUSION: Our case shows that, although uncommon in female infants, x-linked genetic bleeding disorders like HA are a possible diagnosis by very different reasons. Rare bleeding disorders, although not expected, might be present and the combined clinical, laboratory and genetic analysis are needed to establish the final diagnosis. Repetitive prolonged aPTT and clinical bleeding signs should lead to further hemostasiological investigations. An algorithm for hemostasiological investigations in case of unexplained clinical bleeding is given.

Quality of survival in children and adolescents after treatment for childhood cancer: the influence of reported late effects on health related quality of life.

BACKGROUND: Considering the high survival rates of childhood cancer physical and psychosocial long term effects (LF) as well as the estimation of Quality of Life (QoL) are becoming a new focus of clinical research. Thus, disease related as well as age related variables have to be taken into account. This paper evaluates the physical long term effects of childhood cancer survivors. In addition differences of QoL of the survivors in comparison to children and adolescents of the same age are estimated if present and correlated to somatic late effects. PATIENTS AND METHODS: 36 survivors of childhood cancer who are followed at the University Children's Hospital Duesseldorf, with an age range of 8-18 years participate in the evaluation. Together with a clinical examination somatic long term effects and sociodemographic information are documented. QoL is evaluated with a standardized questionnaire (PEDQOL) including the domains physical function, emotion, cognition, autonomy, social function (family, friends and body image). Quality of Life data are compared with data of 319 unselected healthy controls of comparable age groups. RESULTS: 24 of 36 patients show various LF: skeletal deformities, scars, impairment of organ function, infectious complication, hormonal failures. Patients with solid tumors develop more and more frequently severe LF (11/14 pat.) compared to patients with leukaemia and lymphoma (11/22 pat.). Nevertheless health status can be objectively rated as satisfying in comparison to children of the same age. Most patients rate the QoL better than their controls. Patients with severe LF show impairment in the domains body image, emotional and physical functioning and cognition compared to patients without or with minor somatic LF. CONCLUSION: Our results underline the influence of objective long term effects and subjective QoL on the Quality of Survival. Prospective evaluation will lead to new and important information with respect to the onset of somatic and psychosocial LF and possible coping strategies. These information will establish additional possibilities for initiation of primary and secondary rehabilitation processes.

Immune reconstitution inflammatory syndrome (IRIS) due to Bacille Calmette Guerin (BCG) in an HIV-positive child.

We describe the development of a localized Mycobacterium bovis-BCG infection in association with insertion of HAART in an 18-month-old HIV-infected and BCG-vaccinated child.

Quality of life in children and adolescents with cancer. First results of an evaluation of 49 patients with the PEDQOL questionnaire.

BACKGROUND: The assessment of Quality of Life (QoL) in childhood cancer survivors is a new field of research, which is important for a better understanding of how children with cancer feel and how treatment can be optimized. The purpose of our examination in a sample of patients treated in our institution was the evaluation of the questions: How do children with cancer reflect on their QoL in comparison to healthy children of the same age? Are there any significant differences in QoL between children with hematological disorders and children with solid tumors and if that is so, which domains are affected? PATIENTS AND METHODS: We used for the evaluation a pilotversion of a self-rating QoL questionnaire for children between 8 and 18 years (PEDQOL), who was developed for pediatric oncology. 49 children off treatment of whom 51% had leukemia/lymphoma and 49% had solid tumors compared to 62 healthy school children were examined. RESULTS: The PEDQOL questionnaire was a good accepted measure among the examined children. The reliability scores of the pilotform for the evaluated domains were also satisfactory (Cronbach's-Alpha > 0.60). In general QoL was scored good by healthy as well as by ill children. In the group of children with leukemia/lymphoma impairment of QoL was more apparent than in children with solid tumors (domains autonomy, emotional functioning, cognition and familial interactions). Survivors of solid tumors reported less impairment of QoL which was mainly seen in physical functioning and body image. CONCLUSION: In general QoL scored with the PEDQOL pilotquestionnaire was good for most of the childhood cancer survivors. Children with solid tumors show less impairment than children with leukemia/lymphoma. Therefore it could be suggested, that young age at diagnosis and the following longer period of being dependent on familial support, the isolation from peer groups and the longer way to become independent may be reflected by these results. To obtain reliable results how children with cancer express their QoL and what consequences illness, treatment and long term effects of therapy have on the childrens' QoL a multicenter prospective study is needed. This will be realized in the near future in a project on "Long term effects and quality of life in children with leukemia or medulloblastoma", which is supported by the "Kompetenznetz Pädiatrische Onkologie and Hämatologie".