Rare vermian pilocytic astrocytoma with recurrent spontaneous hemorrhage in the elderly: A case report and review of literature.

Background: Pilocytic astrocytoma (PA) is a benign glial tumor predominately seen in pediatrics and early adolescence with associated overall good outcomes. Very few cases of elderly PA have been reported in the literature, and they are known to display unique anatomic, histologic, and genetic peculiarities distinct from pediatric disease. We report a rare case of vermian PA in an octogenarian with recurrent spontaneous intratumoral hemorrhage as a presenting symptom. Furthermore, a review of the literature on the peculiarities of PA in the elderly will be discussed. Case Description: An 81-year-old woman presented with features suggestive of repeated posterior fossa hemorrhages characterized by headaches, diplopia, and alteration in sensorium occurring about 5 months apart. Brain neuroimaging showed a cerebellar vermian tumor with features suggestive of repeated intratumoral bleeding. She had an initial ventriculoperitoneal shunting for acute hydrocephalus and subsequently had a suboccipital craniotomy and subtotal tumor excision due to morbid adherence to the brainstem. The histologic diagnosis was PA with Ki-67 <1% and negative for isocitrate dehydrogenase-1. There was a slow but progressive clinical improvement, and she has remained symptom-free for 4 years on follow-up. Conclusion: PA in the elderly is a rare disease with distinct histologic and genetic peculiarities. This case review showed one of the oldest cases of cerebellar vermian PA presenting with recurrent spontaneous intratumoral hemorrhage, an extremely rare occurrence in benign glioma. Although complete surgical excision is recommended, partial resection is advocated for morbidly adherent tumors. Overall prognosis is worse in elderly PA.

Efficacy of exon-skipping therapy for DMD cardiomyopathy with mutations in actin binding domain 1.

Exon-skipping therapy is a promising treatment strategy for Duchenne muscular dystrophy (DMD), which is caused by loss-of-function mutations in the DMD gene encoding dystrophin, leading to progressive cardiomyopathy. In-frame deletion of exons 3-9 (Δ3-9), manifesting a very mild clinical phenotype, is a potential targeted reading frame for exon-skipping by targeting actin-binding domain 1 (ABD1); however, the efficacy of this approach for DMD cardiomyopathy remains uncertain. In this study, we compared three isogenic human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) expressing Δ3-9, frameshifting Δ3-7, or intact DMD. RNA sequencing revealed a resemblance in the expression patterns of mechano-transduction-related genes between Δ3-9 and wild-type samples. Furthermore, we observed similar electrophysiological properties between Δ3-9 and wild-type hiPSC-CMs; Δ3-7 hiPSC-CMs showed electrophysiological alterations with accelerated CaMKII activation. Consistently, Δ3-9 hiPSC-CMs expressed substantial internally truncated dystrophin protein, resulting in maintaining F-actin binding and desmin retention. Antisense oligonucleotides targeting exon 8 efficiently induced skipping exons 8-9 to restore functional dystrophin and electrophysiological parameters in Δ3-7 hiPSC-CMs, bringing the cell characteristics closer to those of Δ3-9 hiPSC-CMs. Collectively, exon-skipping targeting ABD1 to convert the reading frame to Δ3-9 may become a promising therapy for DMD cardiomyopathy.

Reliability and validity of gait dynamic balance assessment in adult spinal deformity patients using a two-point trunk motion measuring device.

BACKGROUND CONTEXT: Adult spinal deformity (ASD) patients often complain of walking discomfort. However, dynamic balance evaluation methods of gait in ASD have not been well established. DESIGN: Case series study. PURPOSE: Characterize the gait of ASD patients using a novel two-point trunk motion measuring device. PATIENT SAMPLE: Sixteen ASD patients scheduled for surgery and 16 healthy control subjects. OUTCOME MEASURES: Trunk swing width and track length of the upper back and sacrum. METHODS: Gait analysis was performed using a two-point trunk motion measuring device on 16 ASD patients and 16 healthy control subjects. Three measurements were taken for each subject, and the coefficient of variation was determined to compare measurement accuracy between the ASD and control groups. Trunk swing width and track length were measured in three dimensions for comparisons between the groups. The relationship among output indices, sagittal spinal alignment parameters, and quality of life (QOL) questionnaire scores was examined as well. RESULTS: No significant difference was found for the precision of the device between the ASD and control groups. Compared with controls, the walking style of ASD patients tended to have larger right-left swing of the trunk (+14.0 cm and +23.3 cm at the sacrum and upper back, respectively), larger horizontal plane movement of the upper body (+36.4 cm), less vertical movement (-5.9 cm and -8.2 cm up-down swing at the sacrum and upper back, respectively), and longer gait cycle (+0.13 sec). Regarding QOL in ASD patients, greater right-left/front-back swing of the trunk, greater movement in the horizontal plane, and longer gait cycle were associated with lower QOL scores. Conversely, greater vertical movement was associated with higher QOL. CONCLUSIONS: ASD patients had unique gait characteristics, the intensity of which were associated with diminished QOL. The two-point trunk motion measuring device may be reliable and useful for the clinical assessment of balance during gait in ASD patients.

Aggressive growing of the infantile cavernous hemangioma of the calvaria: a case report and review of literature.

INTRODUCTION: Primary intraosseous cavernous hemangiomas of the skull are very rare in the pediatric age group and usually slow-growing tumors. CASE REPORT: We present a case of 5-month-old girl with a left occipital cavernous hemangioma that is rapidly growing. The subcutaneous occipital tiny mass was first noted at birth, and the lesion became rapidly enlarged in size and became soft for 3 months. The left occipital subcutaneous lesion was 4.0 × 4.0 × 2.0 cm (AP × LR × HT) in size. There was no history of trauma or bone tumor in her family. She underwent resection of the lesion, and a pathologic diagnosis of calvarial cavernous hemangioma was made. No recurrence was seen 1 year after surgery. CONCLUSION: The rapid growth of the infant cavernous hemangioma might be related to not only bleeding and/or congestion of the lesion but the immature thin skull of the infant.