Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study.

PURPOSE: The Facioscapulohumeral Muscular Dystrophy Health Index (FSHD-HI) is a patient-reported outcome measure developed for patients with FSHD. This study aimed to translate the FSHD-HI into Japanese (FSHD-HI-J), evaluate cultural adaptation, and examine its psychometric properties. MATERIALS AND METHODS: We created two forward translations, integrated them into a single Japanese version, and evaluated the back-translated version of the FSHD-HI. After finalizing the translation and cultural adaptation, we conducted a survey of 66 patients with FSHD to examine the reliability and validity of the FSHD-HI-J. For psychometric evaluations, we used Cronbach's alpha to assess internal consistency, the intraclass correlation coefficient (ICC) for test-retest reliability, and assessed validity based on the associations between FSHD-HI-J, clinical variables, and quality of life measures. RESULTS: The FSHD-HI-J was found to be clinically relevant, indicating high internal consistency and test-retest reliability (ICC = 0.92 [95% confidence interval: 0.86-0.95] for the total score), as well as significant associations with clinical variables (D4Z4 repeats and functional impairment) and other quality of life measures (|rho| = 0.25-0.73). CONCLUSIONS: The FSHD-HI-J is a valid and reliable patient-reported outcome measure for Japanese patients with FSHD. This validated, disease-specific patient-reported outcome is essential for future clinical practice and clinical trials.

Facioscapulohumeral muscular dystrophy (FSHD) affects not only a patient's physical abilities but also their social activities, participation, and overall quality of life.The FSHD-Health Index (FSHD-HI) is an instrument developed as a disease-specific patient-reported outcome measure to evaluate the burden experienced by patients.The Japanese version of the FSHD-HI has been established as a reliable and validated measure for Japanese-speaking patients with FSHD.The Japanese version of the FSHD-HI can serve as a useful instrument for evaluating the effectiveness of interventions in future trials.

Nanocrystal solid dispersion of fuzapladib free acid with improved oral bioavailability.

This study aimed to develop an oral nanocrystal solid dispersion (nCSD) of fuzapladib (FZP) with enhanced absorbability for the treatment of acute pancreatitis (AP). The hydration properties of crystalline FZP free acid (crystalline FZP) and FZP sodium salt (FZP/Na) were assessed to select a stable crystal form. The nCSD of FZP free acid (nCSD/FZP) was prepared using a multi-inlet vortex mixer and evaluated in terms of physicochemical and pharmacokinetic properties. The results of X-ray powder diffraction analysis indicated that crystalline FZP was stable as an anhydrate, while FZP/Na was converted to its monohydrate at water activity of above 0.2. The nanocrystals in nCSD/FZP were dispersed in hydroxy propyl cellulose-SSL, and their mean particle size were 160 nm with uniform spherical shape. In dissolution testing, nCSD/FZP exhibited rapid dissolution compared with crystalline FZP and reached a saturated concentration of FZP within initial 30 min. After oral administration (2 mg-FZP/kg) to rats, the maximum plasma concentration and bioavailability were 7.3- and 5.2-fold higher for nCSD/FZP than crystalline FZP, respectively, due to improved dissolution by nanosization. In conclusion, nCSD/FZP may be a novel oral dosage form with enhanced absorbability facilitating potent therapeutic effects of FZP for the treatment of AP in animals.

[A case of adult-onset Sturge-Weber syndrome type III without intracranial calcification, presenting with transient homonymous hemianopia].

Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder. Almost all cases of SWS are diagnosed in children, but some are diagnosed in adults. We describe a case of isolated leptomeningeal angiomatosis without intracranial calcification. A 33-year-old woman was admitted because of sudden-onset right homonymous hemianopia with headache and nausea. These symptoms disappeared by the next morning. She had no history of seizure or mental retardation. No facial angioma was found on physical examination. Brain CT showed no intracranial calcification or atrophic cortex. The blood and cerebrospinal fluid analyses yielded normal results. The findings in the electroencephalogram were unremarkable. MRI with susceptibility weighting (SWI) revealed dilated transmedullary veins in the left occipital lobe. Contrast-enhanced T1-weighted imaging (CE-T1WI) illustrated abnormal leptomeningeal enhancement in the left occipitoparietal cortex and enhancement and enlargement of the choroid plexus in the left lateral ventricle. Post-gadolinium contrast-enhanced f FLAIR imaging demonstrated more extensive enhancement of the leptomeningeal lesions than did CE-T1WI. The symptoms and the findings on these images were suggestive of a diagnosis of SWS type III. Clinicians should keep in mind that some cases of SWS manifest with only minor symptoms, such as migraine. If SWS is suspected, SWI and contrast-enhanced MRI should be performed.

Thrombolysis and Mechanical Thrombectomy for Acute Ischemic Stroke in Pregnancy: A Case Report.

Objective: Intravenous (IV) recombinant tissue plasminogen activator (rt-PA) and mechanical thrombectomy (MT) are effective treatments for acute ischemic stroke (AIS). However, the treatment for AIS in pregnancy is not established because no clinical trials have included pregnant patients. We present a case of middle cerebral artery (MCA) M2 segment occlusion in pregnancy treated with IV thrombolysis and endovascular therapy. Case Presentation: A 36-year-old woman being 6 weeks pregnant presented with right-sided hemiparesis and aphasia. MRI showed a high-intensity area on diffusion-weighted imaging of the left parietal lobe, and MRA showed left MCA M2 segment occlusion. She underwent IV rt-PA and MT and achieved thrombolysis in cerebral infarction 2b revascularization without complications. The protein S concentration was lower than that in the physiological changes during pregnancy. She was diagnosed with embolic stroke related to coagulopathy in pregnancy, and she underwent anticoagulation. At the 3-month follow-up, the modified Rankin Scale was 0. She miscarried at 4 months, and the fetal death was presumed to be obstetric cause. Conclusion: IV rt-PA and MT may be effective and safe treatments for pregnant patients. Estimated fetal radiation exposure during MT is low and is presumed not to affect fetal development. We should mitigate the radiation dose and reduce the dose of iodinated contrast agents, particularly in pregnant patients.

Mechanical Thrombectomy for Acute Middle Cerebral Artery Occlusion Caused by Tumor Embolism: A Case Report.

Objective: We report a case of acute middle cerebral artery (MCA) occlusion caused by tumor embolism. Case Presentation: A 64-year-old man with lung cancer presented with sudden onset left-sided hemiparesis and sensory disturbance. Diffusion-weighted imaging (DWI) revealed hyper-intense foci in the right MCA territory and magnetic resonance angiography (MRA) demonstrated right MCA M2 segment occlusion. Mechanical thrombectomy (MT) was performed with Thrombolysis in Cerebral Infarction 2B recanalization. On histopathology, thrombus composed of fibrin and squamous cell carcinoma was observed. We diagnosed him with tumor embolism from lung cancer that invaded the pulmonary vein and the left atrium. Conclusion: Tumor cells may be confirmed by pathological examination regardless of the morphology of the embolus. Pathological examination of the cerebral embolus is useful for the accurate diagnosis of ischemic stroke subtypes.

[An autopsy case of elderly-onset herpes simplex encephalitis with acute respiratory failure caused by brainstem lesions].

An 89-year-old man was admitted because of persistent fever and impaired consciousness. On admission, his consciousness level was E3V3M4 according to the Glasgow Coma Scale. MRI of the brain showed high intensity lesions in the bilateral cingulate gyri. In the cerebrospinal fluid, both cell counts and glucose level were in the normal ranges. He had received antibiotics and intravenous isotonic saline. On the fifth day of hospitalization, blood examination revealed elevation of anti-herpes simplex virus (HSV) immunoglobulin M antibody, and herpes simplex encephalitis (HSE) was diagnosed. Despite treatment with acyclovir, his respiratory function and consciousness level deteriorated rapidly. On the eighth day, he died of respiratory failure. At autopsy, the brain showed multiple softenings of the gray and white matter in the hippocampus, amygdala, and temporal, insular, and cingulate cortices. Some of these lesions were hemorrhagic. Microscopic examination revealed that the lesions were necrotic and associated with perivascular inflammatory cell infiltration in the limbic system, hypothalamus, brainstem tegmentum area, and medulla. Eosinophilic intranuclear inclusions were rarely found in the astrocytes in the medulla. Immunohistochemistry revealed anti-HSV-1 antibody positive neurons in the brainstem tegmentum including reticular formation and the raphe nuclei. HSV-DNA was also detected in the postmortem cerebrospinal fluid. This was a rare case of HSE in which inflammation in the brainstem proved to be the cause of lethal respiratory failure.

Clinical investigation of the cystic duct variation based on the anatomy of the hepatic vasculature.

PURPOSE: Anatomical variation of the cystic duct (CD) is rare but can result in misunderstanding of the CD anatomy during laparoscopic cholecystectomy, potentially leading to bile duct injury. Therefore, the precise preoperative identification of CD variation is important. However, preoperative imaging analyses of the biliary system are not always possible or sufficient. We therefore investigated CD variations based on the anatomy of the hepatic vasculature. METHODS: This study enrolled 480 patients who underwent imaging before hepatobiliary pancreatic surgery. We assessed the variation of the CD and hepatic vasculature and evaluated the correlations among these variations. RESULTS: A variant CD anatomy was identified in 12 cases (2.5%) as CD draining into the right hepatic bile duct (BD) in 4 cases and into the right posterior BD in 8 cases. CD variation was significantly more common in cases with portal vein (PV) and BD variation than in those without the variation. We developed a scoring system based on the presence of PV and BD variations that showed good discriminatory power for identification of CD variants. CONCLUSION: Cases with a variant CD anatomy were more likely to exhibit variant PV and BD anatomies than cases with a normal CD anatomy. These findings will be useful for the preoperative identification of CD variants.

[Diffuse large B-cell lymphoma occurring in a Waldenström macroglobulinemia patient with central nervous system infiltration].

The rare central nervous system (CNS) infiltration of Waldenström macroglobulinemia (WM) is known as Bing-Neel syndrome (BNS). Furthermore, the transformation of WM into diffuse large B-cell lymphoma (DLBCL) is also unusual. Herein, we report a 69-year-old male with DLBCL transformed from BNS. In November 2008, the patient visited a prior hospital because of anemia and was diagnosed with WM. After receiving chemotherapy (R-CHOP), his serum immunoglobulin M (IgM) level decreased and then remained at approximately 2000 mg/dl for 3 years. In November 2011, he complained of visual impairment and photophobia in his left eye. Magnetic resonance imaging showed enlargement of the left optic nerve and cerebrospinal fluid examination indicated CNS infiltration of WM cells. Consequently, he was diagnosed with BNS. He thus received CNS targeted chemotherapy (R-MPV) and achieved a partial response. In May 2014, IgM was elevated and swelling of systemic lymph nodes was detected. Inguinal lymph node biopsy yielded a pathological diagnosis of DLBCL and the clonality of tumor cells between WM and DLBCL was confirmed by the allele-specific oligonucleotide polymerase chain reaction (ASO-PCR).