Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia.

BACKGROUND: Ataxia Telangiectasia (A-T) is a rare monogenetic neurodegenerative disease with pulmonary, nutritional, and dysphagic complications. Gastrostomy tube (GT) feedings are commonly recommended to manage these co-morbidities. In general, outcomes of GT placement in patients with progressive diseases that develop during childhood are not well characterized. The primary purposes of this study were to determine whether GT placement in patients with A-T would be tolerated and associated with caregiver satisfaction. METHODS: We completed a retrospective review of 175 patients who visited the A-T Children's Center at Johns Hopkins Hospital from 2001 through 2008, and identified 28 patients with A-T (19 males, 9 females) who underwent GT placement for non-palliative reasons. Information was obtained from medical records, interviews with primary health care providers, and 24 (83%) caregivers of patients with GT's who responded to survey requests. RESULTS: Twenty-five (89%) patients tolerated GT placement and were a median of 5.0 (0.4-12.6) years post GT placement at the time of this investigation. Three (11%) patients died within one month of GT placement. In comparison to patients who tolerated GT placement, patients with early mortality were older when GT's were placed (median 24.9 vs. 12.3 years, p = 0.006) and had developed a combination of dysphagia, nutritional, and respiratory problems. Caregivers of patients tolerating GT placement reported significant improvements in mealtime satisfaction and participation in daily activities. CONCLUSIONS: GT placement can be well tolerated and associated with easier mealtimes in patients with A-T when feeding tubes are placed at young ages. Patients with childhood onset of disorders with predictable progression of the disease process and impaired swallowing may benefit from early versus late placement of feeding tubes.

Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient.

BACKGROUND: Neural stem cells are currently being investigated as potential therapies for neurodegenerative diseases, stroke, and trauma. However, concerns have been raised over the safety of this experimental therapeutic approach, including, for example, whether there is the potential for tumors to develop from transplanted stem cells. METHODS AND FINDINGS: A boy with ataxia telangiectasia (AT) was treated with intracerebellar and intrathecal injection of human fetal neural stem cells. Four years after the first treatment he was diagnosed with a multifocal brain tumor. The biopsied tumor was diagnosed as a glioneuronal neoplasm. We compared the tumor cells and the patient's peripheral blood cells by fluorescent in situ hybridization using X and Y chromosome probes, by PCR for the amelogenin gene X- and Y-specific alleles, by MassArray for the ATM patient specific mutation and for several SNPs, by PCR for polymorphic microsatellites, and by human leukocyte antigen (HLA) typing. Molecular and cytogenetic studies showed that the tumor was of nonhost origin suggesting it was derived from the transplanted neural stem cells. Microsatellite and HLA analysis demonstrated that the tumor is derived from at least two donors. CONCLUSIONS: This is the first report of a human brain tumor complicating neural stem cell therapy. The findings here suggest that neuronal stem/progenitor cells may be involved in gliomagenesis and provide the first example of a donor-derived brain tumor. Further work is urgently needed to assess the safety of these therapies.

Astrocytoma linked to familial ataxia-telangiectasia.

A 7-year and 11 month-old girl with cerebellar astrocytoma linked to familial ataxia-telangiectasia (AT) is presented. She was born as the 7th girl of a woman with aortic arch syndrome. Two elder sisters of the patient have ataxia telangiectasia. She had immunodeficiency, and cerebellar ataxia, but had no oculocutaneous telangiectasia. The risk of cancer developing in AT patients is about 1,200 times greater than that in age-matched controls. With regard to central nervous system tumours, seven primary tumours have been reported, such as 3 cases of medulloblastoma and 4 cases of glioma. Members of AT families who were under the age of 45 had a risk of dying of a malignant neoplasm five times greater than in the general population. However, there were no reports of glioma in AT families. In this case, it is suggested that IgA deficiency linked to familial AT may have contributed to the development of astrocytoma.

[New method of thymus transplantation]. / Novyi metod transplanatatsii vilochkovoi zhelezy.

A surgical procedure for correction of T-system immunity deficiency in primary immunodeficient states and malignant neoplasms in children is described. To ensure a high physiological activity of the transplant, to prevent anti-recipient reaction and to maintain laminar blood flow in the transplant, thymus glands were obtained from fetuses and separated from breast bone. Blood channel reconstruction was performed before the gland transplant was washed and connected to the patient's blood flow. Thymus transplantation was carried out in 25 cases and neither acute rejection nor anti-recipient reaction were observed. Immune response indices returned to normal within 6-7 months.

Proposición de un tratamiento neuroquirúrgico para la ataxia-telangiectasia (síndrome de Mme. Louis Bar: primeros resultados / Proposition of a neurosurgical treatment for ataxia-telangiectasy (Mme. Louis Bar syndrome): first results obtained

Se describen los síntomas de la ataxia-telangiectasia (síndrome de Mme. Louis Bar). Se estudian cuatro casos de una familia y uno esporádico que presentan esta entidad, detallándose la técnica de la operación denominada inmunoshunt o derivación, la que fue aplicada en los cinco pacientes. Por último se anallizan los resultados obtenidos(AU)

Trasplante vascularizado de un bloque timoesternal para el tratamiento del síndrome ataxia-telangiectasia

Se hace una breve exposición de las características más notables del síndrome ataxia-telangiectasia......(AU)