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.

Intraspinal canal platform system for coil embolization of anterior spinal artery aneurysm associated with spinal cord arteriovenous malformation: a case report and literature review.

BACKGROUND: The prognosis for spinal artery aneurysms associated with spinal cord arteriovenous malformations (AVMs) is poor because of the high rupture rate of aneurysms. However, endovascular treatment remains technically difficult because the catheter system must be constructed via the small-caliber anterior spinal artery (ASA) or posterior spinal artery (PSA), which feeds functionally eloquent spinal cord. A 2.6F Carnelian HF-S microcatheter (Tokai Medical Products, Aichi, Japan) has been specifically designed to assist a 1.6F Carnelian MARVEL S microcatheter (Tokai Medical Products) as a small-profile 'platform catheter' close to the target lesion. Here we present a prenidal ASA aneurysm treated using a 2.6F Carnelian HF-S microcatheter as an intraspinal canal platform catheter and review related literature. CASE PRESENTATION: A 50-year-old man presented with a subarachnoid haemorrhage due to cervical spinal cord AVM. Diagnostic vertebral angiography revealed the AVM supplied by the PSA originated from the right C2 segmental artery and ASA arising from the right V4 segment. Superselective angiography for each feeder was achieved through a 2.6F Carnelian HF-S microcatheter, and a prenidal ASA aneurysm was diagnosed, which was clinically consistent with haemorrhagic origin. A 1.6F Carnelian MARVEL S microcatheter was cannulated into the aneurysm through the 2.6F Carnelian HF-S microcatheter positioned at the ASA. The aneurysm coiling was successfully performed without system instability or periprocedural complications. CONCLUSIONS: Only a few cases have described endovascular treatment for spinal artery aneurysms. To date, no reports have been published regarding the use of an intraspinal canal platform catheter to treat spinal artery aneurysms. A 2.6F Carnelian HF-S microcatheter served as a useful intraspinal canal platform catheter for coil embolization of the ASA aneurysm. This system can provide excellent accessibility and controllability for endovascular treatment of spinal artery lesions.

Temporal Muscle and Stroke-A Narrative Review on Current Meaning and Clinical Applications of Temporal Muscle Thickness, Area, and Volume.

BACKGROUND: Evaluating muscle mass and function among stroke patients is important. However, evaluating muscle volume and function is not easy due to the disturbances of consciousness and paresis. Temporal muscle thickness (TMT) has been introduced as a novel surrogate marker for muscle mass, function, and nutritional status. We herein performed a narrative literature review on temporal muscle and stroke to understand the current meaning of TMT in clinical stroke practice. METHODS: The search was performed in PubMed, last updated in October 2021. Reports on temporal muscle morphomics and stroke-related diseases or clinical entities were collected. RESULTS: Four studies reported on TMT and subarachnoid hemorrhage, two studies on intracerebral hemorrhage, two studies on ischemic stroke, two studies on standard TMT values, and two studies on nutritional status. TMT was reported as a prognostic factor for several diseases, a surrogate marker for skeletal muscle mass, and an indicator of nutritional status. Computed tomography, magnetic resonance imaging, and ultrasonography were used to measure TMT. CONCLUSIONS: TMT is gradually being used as a prognostic factor for stroke or a surrogate marker for skeletal muscle mass and nutritional status. The establishment of standard methods to measure TMT and large prospective studies to further investigate the relationship between TMT and diseases are needed.

A preliminary study of the diagnostic efficacy and safety of the novel boring biopsy for brain lesions.

Existing methods for biopsy of intraparenchymal brain lesions, including stereotactic biopsy and open block biopsy, have advantages and disadvantages. We propose a novel biopsy method, called "boring biopsy," which aims to overcome the drawbacks of each conventional method. This method is less invasive and allows obtaining continuous specimens of sufficient volume. We aimed to assess the feasibility and efficacy of using boring biopsy for intraparenchymal brain lesions. We included 26 consecutive patients who underwent boring biopsy for intraparenchymal lesions. Columnar continuous specimens from the surface of the normal brain tissue to the tumor margin and the center of the lesion were obtained using the boring biopsy method. We used a catheter introducer with original modifications to create a cylindrical biopsy tool for surgery. Columnar continuous specimens were successfully obtained. Histopathological diagnosis was based on cellular changes and differentiation from normal tissues to the core of the lesion and established in all cases. No permanent deficits, major adverse outcomes, or deaths were observed. This novel technique may improve diagnostic accuracy and reduce invasiveness associated with brain biopsy. This method may become the next standard procedure, particularly in some cases where histological evaluation is paramount, and conventional biopsy methods are not suitable.

Assessment of collateral venous flow using temporary clip placement at ICG videoangiography.

BACKGROUND: As there are many collateral pathways between venous systems, intraoperative venous injury rarely induces venous infarction. In some patients, however, venous injury during microsurgical manipulation may cause acute and/or delayed serious complications. Although intraoperative evaluation using indocyanine green (ICG) videoangiography is very useful, it is difficult to assess the flow direction using this technique. METHOD: A simple technique using temporary clips and ICG videoangiography was applied to assess the collateral venous pathway in 4 cases of surgical manipulation-related injury or occlusion of the main superficial Sylvian vein in patients with aneurysm. RESULTS: The flow direction and collateral pathway can be easily visualized after release of temporary occlusion. CONCLUSIONS: A collateral venous pathway can be evaluated with the present simple technique described here.

[Chronic Subdural Hematoma with Middle Cranial Fossa Arachnoid Cyst Concomitant with Bilateral Papilledema:A Case Report].

Arachnoid cysts(AC)are benign cystic lesions often diagnosed in childhood. Although usually asymptomatic, AC can become symptomatic when the lesion size increases or coexists with a subdural hygroma or hematoma. AC patients with signs of increasing intracranial pressure(IICP)or neurological deficits may need surgical intervention; this usually results in a good prognosis. However, whether asymptomatic AC patients should undergo surgical treatment is controversial. Although trivial head trauma, such as that from contact sports, can cause subdural hematoma in AC patients, there are currently no definite criteria regarding sports participation for children with AC. CASE: A 12-year-old boy who belonged to a soccer club visited an ophthalmologist with the chief complaint of having had diplopia for two weeks. He was identified as having bilateral papilledema. Since he had been diagnosed with a right middle cranial fossa AC five years earlier, he was referred to our outpatient clinic. Cranial CT scans showed right chronic subdural hematoma alongside the AC. The patient subsequently underwent burr hole surgery and was discharged after one week. In this case, the patient did not present with the typical signs of IICP, such as headache or vomiting. This experience indicates that care must be taken when encountering patients with atypical symptoms, particularly children. In addition, it is important to carefully consider sports participation for children with AC.

STA-ACA bypass using the ipsilateral free STA graft as an interposition graft and A3-A3 anastomosis for treatment of bilateral ACA steno-occlusive ischemia.

BACKGROUND: Anterior cerebral artery (ACA)-related ischemia is a rare entity in patients with atherosclerosis. Some surgical treatments are reported to date. METHOD: We present the modification of intracranial-intracranial and intracranial-extracranial bypasses for symptomatic bilateral ACA steno-occlusive disease. The A3-A3 bypass followed by the superficial temporal artery-ACA bypass using the ipsilateral free superficial temporal artery graft is useful without harvesting of the radial artery. CONCLUSION: Bilateral ACA steno-occlusive induced ischemia can be treated with tailored bypass procedures.

Atypical teratoid/rhabdoid tumor of the sellar region in adult women: Is it a sex-related disease?

Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor in children and a rare entity. Although adult AT/RT is extremely rare, some cases of adult-onset AT/RT in the sellar region have been described. Here, we report an adult patient with AT/RT of the sellar region in whom it was difficult to make a definitive diagnosis and the clinical course was aggressive. This is the first report of autopsy findings that could confirm the clinical characteristics of this rare unresolved pathology, and will contribute to the improvement of prognosis. In addition, a literature review was performed to clarify this exceptionally rare condition. Interestingly, all reported adult patients with sellar AT/RT, along with the present case, were female. This raises the possibility of its being a sex-related disease. However, further studies are required to come to a definitive conclusion.

Diagnosis of Ingested Foreign Body in the Stomach by Point-of-Care Ultrasound in the Upright and Slightly Forward Tilting Position (Bowing Position).

We report a case involving accidental ingestion of a marble that was detected by point-of-care ultrasonography of the abdomen with the patient in the upright and slightly forward tilting position, which we term the "bowing position." Using this position for abdominal ultrasonography may be more useful than the usual supine position for such patients.