Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

This study is a randomized, open-label, controlled pilot study of intrathecal laronidase in eight attenuated MPS I patients with cognitive impairment. Subjects ranged between 12 years and 50 years old with a median age of 18 years. All subjects had received intravenous laronidase prior to the study over a range of 4 to 10 years, with a mean of 7.75 years. Weekly intravenous laronidase was continued throughout the duration of the study. The randomization period was one year, during which control subjects attended all study visits and assessments, but did not receive any intrathecal laronidase. After the first year, all eight subjects received treatment for one additional year. There was no significant difference in neuropsychological assessment scores between control or treatment groups, either over the one-year randomized period or at 18 or 24 months. However, there was no significant decline in scores in the control group either. Adverse events included pain (injection site, back, groin), headache, neck spasm, and transient blurry vision. There were seven serious adverse events, one judged as possibly related (headache requiring hospitalization). There was no significant effect of intrathecal laronidase on cognitive impairment in older, attenuated MPS I patients over a two-year treatment period. A five-year open-label extension study is underway.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research

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We describe the most highly recommended generic and disease-specific PRO tools in SCD and discuss the challenges of incorporating them in clinical practice. EXPERT OPINION: PRO measures are essential to incorporate into SCD clinical trials either as primary or secondary outcomes. The use of PRO measures in SCD facilitates a patient-centered approach, which is likely to lead to improved outcomes. Significant challenges remain in adapting PRO tools to routine clinical use and in developing countries. PMID: 33034214 [PubMed - as supplied by publisher]
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Currently in fellowship doing bread/butter procedures (MBB, epidurals, PNB, few SCS/PNS trials, etc.) and just interviewed at a private practice spot where they do a lot of procedures that I will have not done any training in prior to graduating (e.g. IT pump, SI fusion, Vertiflex, Kypho, MILD, Discectomy, lots of SCS/PNS trials etc) and significant amount of "OR pain procedures" at a very busy practice seeing 30-40 pts/day - how many of you are commonly performing these procedures and are... private practice concern
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand. PMID: 33032302 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Publication date: Available online 9 October 2020Source: Neurología (English Edition)Author(s): N. Morollón, R. Belvís, A. De Dios, N. Pagès, C. González-Oria, G. Latorre, S. Santos-Lasaosa
Source: Neurologia - Category: Neurology Source Type: research
Brucellosis is a zoonotic multi-organ infectious disease most frequent in developing countries. Neurobrucellosis a quite rare but serious complication of brucellosis in the pediatric age group manifests with different neurological symptoms and signs. In the present case a 9-year-old girl was referred to our centre with a 9-months history of headache and back pain, facial nerve palsy and right upper limb weakness. She had undergone ventriculoperitoneal shunting surgery due to communicating hydrocephalus. Magnetic resonance imaging revealed a spinal extramedullary intradural mass, two epidural collections in the cervical spi...
Source: Journal of Radiology Case Reports - Category: Radiology Source Type: research
We report a case where the LP shunt migrated upward to the cerebellomedullary cisterns.Case DescrıptıonA 37-year-old female patient underwent lumboperitonel shunt surgery for pseudotumor cerebri. After the LP shunt surgery, the patient's complaints of headache and blurred vision disappeared. The patient admitted to polycyclic at the postoperative first month with neck pain and neck sucking sensation. Cerebellomedullar cysterna shunt tip was seen in brain CT. The patient was operated again and the proximal end of the shunt was lowered to Lumbar 1 level under C-Arm Scope device control. Then, we fixed the subcutaneous tiss...
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research
ConclusionEarly recognition of CVJ pathology and hydrocephalus is critical to avoid the development of severe complications. A multidisciplinary approach involving physicians, neuroradiologists, and neurosurgeons is needed to detect such conditions and to select patients eligible for surgery.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
Discussion. Pneumocephalus is defined by two mechanisms: a ball-valve and an inverted bottle concept.1 The ball-valve type implies positive pressure events, such as coughing or valsalva maneuvers, that prevent air escape. Tension pneumocephalus is included in this mechanism, causing a parenchymal mass effect. The inverted bottle theory includes a negative intracranial pressure gradient following cerebrospinal fluid drainage, relieved by air influx. A small pneumocephalus is usually sealed by blood clots or granulation, allowing spontaneous reabsorption and resolution.[1] Otherwise, the lateral positioning of a patient duri...
Source: Innovations in Clinical Neuroscience - Category: Neuroscience Authors: Tags: Assessment Tools CNS Infections Current Issue Letters to the Editor Neurologic Systems and Symptoms Neurology Stroke Traumatic Brain Injury epidural needle size Pneumocephalus spinal tap Source Type: research
This report emphasizes that hydrocephalus may be related to disorders of cerebrospinal fluid flow dynamics induced by cervical pseudomeningocele. In these rare cases, both the hydrocephalus and the symptoms are resolved by the simple correction of the pseudomeningocele. PMID: 27391399 [PubMed - as supplied by publisher]
Source: Journal of Neurosurgery.Spine - Category: Neurosurgery Authors: Tags: J Neurosurg Spine Source Type: research
We report a case of a 31-year-old woman with glioblastoma multiforme (GBM) in the pineal region with associated leptomeningeal dissemination and lumbar metastasis. The patient presented with severe headache and vomiting. Magnetic resonance imaging (MRI) of the brain showed a heterogeneously enhanced tumor in the pineal region with obstructive hydrocephalus. After an urgent ventricular-peritoneal shunt, she was treated by subtotal resection and chemotherapy concomitant with radiotherapy. Two months after surgery, MRI showed no changes in the residual tumor but leptomeningeal dissemination surrounding the brainstem. One mont...
Source: Journal of Korean Neurosurgical Society - Category: Neurosurgery Tags: J Korean Neurosurg Soc Source Type: research
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