Clinical Features of Female Carriers and Prodromal Male Patients With Spinal and Bulbar Muscular Atrophy.

BACKGROUND AND OBJECTIVES: To assess the clinical and electrophysiologic features of female carriers and early-stage male patients with spinal and bulbar muscular atrophy (SBMA) to elucidate the early pathophysiologic changes of the disease. METHODS: Female carriers, early-stage male patients with SBMA, and age-matched male and female healthy controls were recruited. The results of motor functional scales, motor unit number estimation, dual-energy X-ray absorptiometry, and peripheral blood tests were compared between female carriers and healthy female controls and between patients with SBMA and healthy male controls. EMG was also investigated in female carriers. RESULTS: We enrolled 21 female carriers and 11 early-stage male patients. Seventeen female and 14 male age-matched healthy controls were also enrolled. Female carriers experienced early-stage symptoms such as muscle cramps more frequently than healthy female controls. Decreased motor unit number estimation and EMG abnormalities including high amplitude or polyphasic potentials were observed in female carriers together with mild muscle weakness in neck flexion and a slow walking speed. Changes of muscle-related markers, including serum creatine kinase and dual-energy X-ray absorptiometry, were clearly detected in early-stage male patients with SBMA, but not in female carriers. DISCUSSION: The present study revealed that female carriers of SBMA manifest mild muscular weakness associated with changes in neurogenic biomarkers. Conversely, male patients showed neurogenic and myopathic changes even at the early stage. These results suggest a testosterone-independent neurodegenerative pathophysiology in female SBMA carriers.

Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy.

Introduction: We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X-linked recessive, lower motor neuron disease. Case presentation: A 64-year-old man who had received leuprorelin treatment over 3 years for his spinal and bulbar muscular atrophy presented with an enlarged prostate accompanied by abdominal pain and constipation. An abnormally high serum prostate-specific antigen of 17.7 ng/mL and a low (castration level) serum testosterone level of 0.23 ng/mL were measured. Prostate needle biopsy revealed adenocarcinoma of the prostate. Orchiectomy, darolutamide, and radiation therapy for the prostate were initiated, resulting in a favorable response which was maintained at 12 months of treatment. Conclusion: Prostate cancer can occur even when leuprorelin is used for spinal and bulbar muscular atrophy; therefore, checking serum prostate-specific antigen to screen for prostate cancer before leuprorelin administration should be considered.

Upper Arm Muscular Echogenicity Predicts Intensive Care Unit-acquired Weakness in Critically Ill Patients.

Objectives: This retrospective observational study investigated whether the degree of muscular echogenicity in patients admitted to the intensive care unit (ICU) could help with the early detection of ICU-acquired weakness (ICU-AW) and predict physical function at hospital discharge. Methods: Twenty-five patients who were mechanically ventilated for more than 48 h in the ICU were enrolled. We also enrolled 23 outpatients with nonmuscular diseases as the control group. The target sites for measuring muscular echogenicity were the upper arm and lower leg. First, the muscular echogenicity was compared between surviving nonsurgical patients admitted to the ICU and stable outpatients with nonmuscular diseases. Second, we investigated the relationship between muscular echogenicity and clinical features, e.g., the manual muscle test (MMT), Medical Research Council (MRC) sum score, and Functional Independence Measure (FIM). Results: Muscular echogenicity in the upper arm in the ICU group was significantly higher than that in the control group. In the ICU group, the degree of muscular echogenicity of the upper arm was inversely correlated with the MMT of elbow flexion (P=0.006; r=-0.532) and the MRC sum score (P=0.002; r=-0.591). However, muscular echogenicity of the upper arm did not correlate with functional FIM (P=0.100; r=-0.344) at hospital discharge. Conclusions: Critically ill patients can experience pathological muscle weakness associated with increased muscular echogenicity in the upper arm. Additionally, the degree of muscular echogenicity in the upper arm correlated with the MRC sum score and can facilitate early detection of ICU-AW. The relationship between echogenicity and functional outcome at discharge requires elucidation.

SAFETY AND EFFECTIVENESS OF A STATIC WEARABLE CHAIR FOR PATIENTS REQUIRING REHABILITATION: A PRELIMINARY REPORT.

OBJECTIVE: To evaluate the acceptability of using a static wearable chair for patients requiring rehabilitation. METHODS: The acceptability of use of a static wearable chair during rehabilitation was assessed via static balance and subjective evaluation of 7 healthy subjects and 3 patients during standing training. Participants performed 1 standing task in free mode (in which the knee could bend freely) and 1 in support mode (in which the user could sit on the wearable chair with the knee slightly bent) for 3 min. For balance evaluation, the skeletal coordinates were measured. For subjective evaluation, a visual analogue scale questionnaire was administered before and after each task. RESULTS: Balance assessment revealed that patients had less head sway during support, whereas subjective evaluation showed that the device support created a positive psychological state in terms of stability, comfort, satisfaction, interest in usage, and motivation for rehabilitation. However, patients reported feeling strangeness, fear, or restraint during support. CONCLUSION: The static wearable chair improved the static balance of 3 patients and created a more positive psychological state. Use of the device is considered acceptable for use with rehabilitation patients. However, patients might feel strangeness, fear, and restraint during support. Familiarization with the static wearable chair may make it more acceptable among rehabilitation patients.

An Adult Case of Hemiplegia, Aphasia, and Hemispheric Atrophy Associated with Febrile Status Epilepticus.

A 43-year-old man with a preceding infection was transferred to our hospital for febrile status epilepticus (SE). Although treatment for SE was immediately initiated, it failed. Therefore, continuous anesthetics treatment with mechanical ventilation was initiated. No epileptic discharge was found on an electroencephalogram. However, total aphasia and right hemiplegia due to left hemispheric swelling were noted on day 5. His aphasia and hemiplegia did not improve. The mechanism underlying the hemispheric involvement remains unclear. The initial diagnosis should be made with care in patients with febrile SE; furthermore, intensive treatment should be administered in the acute phase.

Clinical Characteristics and Clinical Course of Body Lateropulsion in 47 Patients with Brainstem Infarctions.

BACKGROUND: In patients with lower lateral medullary infarction (LMI) located under the vestibular nucleus, proprioceptive impairment due to dorsal spinocerebellar tract (DSCT) is considered a pathological condition for body lateropulsion. In patients with brainstem infarction located at or above the level of the vestibular nucleus, other pathways, such as the crossed vestibulothalamic tract (CVTT), are considered responsible. RESEARCH QUESTION: The clinical course of body lateropulsion between each anatomical level of infarction remains unclear. Further, whether body lateropulsion refers to a static or a dynamic symptom also remains unclear. METHODS: We examined 47 patients who exhibited body lateropulsion and categorized them into four groups: lower LMI under the vestibular nucleus, LMI at the level of the vestibular nucleus, pontine infarction, and midbrain infarction. The patients' time to acquire static upright standing position and gait in a straight line were statistically analyzed by a log-rank test using the Kaplan-Meier method. RESULTS: Body lateropulsion in the static upright position was less frequent in the lower LMI group than in the other groups. SIGNIFICANCE: Lower LMI primarily affected body lateropulsion in gait. DSCT damage could affect ipsilateral hip joint or leg coordination, causing body lateropulsion in dynamic situation.

Hemophagocytic Lymphohistiocytosis Associated with Scrub Typhus: Systematic Review and Comparison between Pediatric and Adult Cases.

BACKGROUND: Scrub typhus is a mite-borne bacterial infection caused by Orientia tsutsugamushi. Hemophagocytic lymphohistiocytosis (HLH) is a potential severe complication. Most reported cases of HLH associated with scrub typhus were single cases or case series with a small sample sizes. Thus, no clear consensus exists on clinical manifestations and differences between pediatric and adult cases of this condition. METHODS: a systematic search of English and Japanese articles from PubMed, PubMed Central, and Directory of Open Access Journals databases was performed from 3 December 2016 to 28 December 2017. The primary outcome was mortality in patients with HLH associated with scrub typhus; secondary outcomes were differences in clinical symptoms, laboratory findings, and treatment between pediatric and adult patients with HLH associated with scrub typhus. RESULTS: thirty cases of HLH associated with scrub typhus were identified (age range: 2 months to 75 years; median age: 21.5 years, male:female ratio, 1:1). Eschar was frequently observed in the pediatric group (p = 0.017), whereas acute kidney injury was more prevalent in the adult group (p = 0.010). Two patients died of intracranial hemorrhage complicated with multiple organ failure; overall mortality rate was 6.7%. CONCLUSIONS: HLH associated with scrub typhus could be cured with remarkable improvement using single antibiotic therapy in approximately half the cases, with the mortality rate being relatively lower than that of HLH associated with other secondary causes.

Ipsiversive Ocular Torsion, Skew Deviation, and Hearing Loss as Initial Signs of Anterior Inferior Cerebellar Artery Infarction.

A 67-year-old man with hypertension and type 2 diabetes mellitus was admitted to our hospital because of left hearing loss and vertical diplopia. A neurological examination showed ocular torsion, skew deviation, and sensorineural hearing loss in the left ear. Brainstem and cerebellar neurological signs were not observed. Left middle cerebellar peduncle infarction was evident on magnetic resonance imaging. He was treated with antiplatelet, however, the infarct progressed after this administration. Ocular tilt reaction (OTR) involves the triad of ocular torsion, skew deviation, and head tilt. Ipsiversive OTR components associated with hearing loss can be early diagnostic signs of anterior inferior cerebellar artery infarction.

The Rapid Effectiveness of Minocycline against Scrub Typhus Meningoencephalitis.

Scrub typhus is associated with various clinical symptoms. However, the pathogenesis of scrub typhus infection remains to be elucidated. A 73-year-old man was admitted to our hospital with consciousness disturbance and suspected meningoencephalitis. The patient's laboratory data showed deterioration and were indicative of hemophagocytic lymphohistiocytosis (HLH). A whole body examination to detect the trigger disease revealed an eschar, which is a characteristic of scrub typhus, on his back. His symptoms showed dramatic improvement after the administration of minocycline (MINO). This case report highlights that the clinical course of a case of scrub typhus meningoencephalitis that was cured with MINO.

Medullary hemorrhage that preceded the onset of multiple cavernous angiomas.

Medullary hemorrhage is rare, and the causative role of hypertension still remains controversial. Cavernous angioma and other vascular malformations have been reported to cause medullary hemorrhage. A 53-year-old man was admitted to our hospital for vertigo. Medullary hemorrhage and multiple small hypointense lesions were detected on T2-star weighted magnetic resonance imaging (T2*W MRI). One and four months later, the appearance of new lesions confirmed the diagnosis of cerebral cavernous angioma. Cavernous angioma is often characterized by de novo appearance/progression on MRI. A follow-up MRI is required to diagnose cavernous angioma in patients with medullary hemorrhage.