Tomoo Hirahara

Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy

Objective: Familial amyloid polyneuropathy (FAP), which is a fatal disorder inherited in an autosomal dominant fashion, is characterized by systemic accumulation of polymerized transthyretin (TTR) in the peripheral nerves and systemic organs. Liver transplantation has become an accepted treatment of this disorder because it stops the major production of amyloidogenic TTR. However, improved survival of transplant patients compared with that of nontransplant patients has not been sufficiently demonstrated. This study investigated whether transplantation improved the long-term outcome of patients by comparing the survival of patients who had transplantations with that of patients who had not had transplantations. Methods: Eighty consecutive patients with FAP Val30Met who visited Kumamoto University Hospital between January 1990 and December 2010 were studied. The transplant group consisted of 37 patients who had a partial hepatic graft via living donor transplantation in Japan or who underwent liver transplantation in Sweden, Australia, or the United States. The nontransplant group consisted of 43 patients with FAP. Survival was evaluated by using Kaplan-Meier analysis, and the difference in survival was examined via the log-rank test. Results: The transplant group had prolonged survival (p < 0.001) compared with the nontransplant group. The estimated probability of survival at 10 years was 56.1% for the nontransplant group vs 100% for the transplant group. Conclusion: Liver transplantation should be considered as an effective treatment in clinical management of patients with FAP Val30Met. Classification of evidence: This study provides Class III evidence that liver transplantation prolongs survival in patients with FAP Val30Met.

A reversible lesion of the corpus callosum splenium with adult influenza-associated encephalitis/encephalopathy: a case report.

ABstractIntroductionInfluenza virus-associated encephalitis/encephalopathy is a severe childhood illness with a poor prognosis. Adult case reports are rare and, to date, there have been no reports of adults with a mild subcortical encephalopathy with reversible lesions of the corpus callosum splenium.Case presentationA previously healthy 35-year-old man presented with acute progressive tetraplegia, transcortical motor aphasia and a mild decrease in his consciousness during his recovery after receiving oseltamivir phosphate treatment, and influenza type A antiviral medication. The initial magnetic resonance imaging study at day 1 showed symmetrical diffuse lesions in the white matter and a lesion on the central portion of the corpus callosum splenium. These findings had resolved on follow-up studies at day 8 and day 146. His neurological deficits mostly recovered within 12 hours following methylprednisolone pulse therapy. The levels of interleukin-6 and interleukin-10 in his blood and cerebrospinal fluid were initially elevated, but rapidly decreased to normal levels by day 8.ConclusionIt is important for clinicians to recognize that even in adulthood, the subcortical encephalopathy observed during the therapeutic treatment for influenza type A infection can occur in conjunction with a reversible lesion of the corpus callosum, which may recover quickly. In addition, the cytokine storm in the blood system and the corticospinal cavity may play an important role in the etiology of the disease process.

Long-Term Outcome of Polymyositis Treated with High Single-Dose Alternate-Day Prednisolone Therapy

Background: We previously reported no difference in the efficacies of high-dose alternate-day (ADT) and daily-dose (DDT) prednisolone therapies in myositis patients, but that the incidence of side effects was lower in the former. The aim of the present study was to compare the long-term outcomes of both treatments in polymyositis patients. Methods: We compared clinical courses, efficacies, adverse reactions, and outcomes of 115 consecutive, biopsy-proven polymyositis patients treated between 1970 and 2008 with ADT (32 patients) or DDT (83 patients). Results: Mean onset ages, disease severity, incidences of malignancy, and response rates did not differ between the ADT and DDT groups. Adverse reactions (incidence of diabetes) were significantly higher in the DDT group. In this group, the incidences of hyperlipidemia, infection, hypertension, and psychiatric symptoms were also slightly higher, but not significantly so. The 20-year survival rate of the ADT group (68%) was significantly higher (p = 0.0112) than that of the DDT group (37%). Conclusion: ADT might be useful as an initial treatment option for polymyositis.

Drastic therapy for listerial brain abscess involving combined hyperbaric oxygen therapy and antimicrobial agents.

Background Listeria monocytogenes (L. monocytogenes) is a rare causative pathogen of brain abscess that is often found in immunocompromised patients. Although patients with supratentorial listerial abscesses showed a longer survival with surgical drainage, the standard therapy for patients with subtentorial lesions has not been established. Case Report We report herein a patient with supra- and subtentorial brain abscesses caused by L. monocytogenes infection. These abscesses did not respond to antibiotics, and his symptoms gradually worsened. Drainage was not indicated for subtentorial lesions, and the patient was additionally treated with hyperbaric oxygen therapy, which dramatically reduced the volume of abscesses and improved the symptoms. Conclusions This is the first report of drastic therapy for a patient with listerial brain abscesses involving combined antibiotics and hyperbaric oxygen therapy. The findings suggest that hyperbaric oxygen therapy is a good option for treating patients with deep-seated listerial abscesses and for who surgical drainage is not indicated.

Muscle biopsy findings predictive of malignancy in rare infiltrative dermatomyositis

OBJECTIVE The characteristic pathological muscular findings of polymyositis (PM) and dermatomyositis (DM) have been shown to reflect their different pathogeneses. Here, we characterized the muscle biopsy findings of PM and DM patients with or without malignancy. METHODS We evaluated the muscle biopsy findings of 215 consecutive PM and DM patients admitted to our hospital between 1970 and 2009. Pathology of the lesion biopsy sections was classified into 3 types: endomysial infiltration-type, perivascular infiltration-type, and rare-infiltrative-type. RESULTS There was no difference between the muscle pathology of PM patients with and without malignancy. However, the incidence of rare-infiltrative type muscle pathology in DM patients with malignancy was significantly higher than in those without such tumors (p=0.0345). CONCLUSION The incidence of rare-infiltrative type muscle pathology may be a predictive marker of DM with malignancy.

Gait Disturbance due to Foot Drop Is Refractory to Treatment in Nonsystemic Vasculitic Neuropathy

Background: Nonsystemic vasculitic neuropathy (NSVN) is a vasculitis syndrome clinically restricted to the peripheral nervous system. Although treatment may improve prognosis, daily activities of such patients after treatment have not been well studied. Methods: We evaluated clinical features, laboratory data, nerve conduction, and sural nerve biopsy findings for 16 unbiased consecutive patients with NSVN. Results: Initial symptoms included neuropathic pain (31%) and lower limb sensory disturbance (19%). The mean duration between disease onset and initial treatment was 4.1 ± 4.8 months. Mean modified Rankin scale scores were 3.13 at hospital admission and 2.69 at final follow-up. The poor outcome group had significantly decreased compound muscle action potentials of peroneal nerves and significantly more patients presenting with foot drop compared with the good outcome group. No other significant differences were found. Conclusion: Pretreatment foot drop signaled poor outcome in daily activities of patients with NSVN, and earlier treatment may be critical for these patients.

A carrier with de novo Mutation in the dystrophin gene whose myopathic symptoms became seriously progressive after pregnancy and delivery.

nodular myositis: a clinical and pathological variant of polymyositis. Q J Med 1977;46:531–546. 2. Dawson JK, Davidson JE. Focal myositis due to Campylobacter infection. Rheumatology (Oxford) 2001;40:704–706. 3. Streichenberger N, Meyronet D, Fiere V, Pellissier JF, Petiot P. Focal myositis associated with S-1 radiculopathy: report of two cases. Muscle Nerve 2004;29:443–446. 4. Wagner M, Muhldorfer-Fodor M, Prommersberger KJ, Schmitt R. Statin-induced focal myositis of the upper extremity. A report of two cases. Eur J Radiol 2011;77:258–260. 5. Smith AG, Urbanits S, Blaivas M, Grisold W, Russell JW. Clinical and pathologic features of focal myositis. Muscle Nerve 2000;23: 1569–1575. 6. Auerbach A, Fanburg-Smith JC, Wang G, Rushing EJ. Focal myositis: a clinicopathologic study of 115 cases of an intramuscular mass-like reactive process. Am J Surg Pathol 2009;33:1016–1024.

Usefulness of intraventricular infusion of antifungal drugs through Ommaya reservoirs for cryptococcal meningitis treatment

INTRODUCTION Cryptococcal meningitis is a severe infection among immunosuppressed individuals, with a high mortality rate. Although amphotericin B is the first-choice drug for treatment, its use is restricted when adverse effects are clinically problematic. The usefulness of intraventricular infusion of antifungal drugs through Ommaya reservoirs for cryptococcal meningitis treatment has been unconfirmed. We evaluated the efficacy of intraventricular infusion of amphotericin B through Ommaya reservoirs. MATERIALS AND METHODS We retrospectively analyzed 10 consecutive patients with cryptococcal meningitis who were refractory to systemic administration of antifungal drugs. RESULTS Fever or nausea occurred in most patients. However, no patient complained of serious complications such as renal toxicity. Seven patients recovered completely or partially, whereas three patients died. CONCLUSIONS To establish the efficacy of the intraventricular infusion of antifungal drugs through Ommaya reservoirs for cryptococcal meningitis, a prospective investigation should be designed to compare those treated according to the updated guidelines and those treated with antifungal drugs through the Ommaya reservoirs.

Amyotrophic lateral sclerosis in a patient with Kartagener syndrome

Abstract We present a case of a patient with clinically definite ALS, who had earlier suffered from Kartagener syndrome, which is characterized by the triad comprising chronic sinusitis, bronchiectasis, and situs inversus. Recent linkage and mutational analyses identified several genes that are responsible for Kartagener syndrome. Most of them encode subunits of axonemal dyneins, highlighting the importance of dynein motors to ciliary motility. Recent data indicate that defects in cytoplasmic dynein-mediated retrograde axonal transport are involved in the etiology of ALS. Genes encoding the dynein heavy chain of cytoplasmic and outer arm axonemal dyneins are reported to have similar sequences in their central and 3′-end regions. Although a causal link between ALS and Kartagener syndrome has not yet been definitely established, the precise relationship between disrupted axonemal dynein function in Kartagener syndrome and motor neuron death should be investigated.

Chronic inflammatory demyelinating polyneuropathy triggered by interferon-α for chronic hepatitis B virus infection

Interferon‐α has been widely used for treatment of chronic hepatitis and some malignancies. Several autoimmune diseases have been reported to be induced by interferon‐α, but chronic inflammatory demyelinating polyneuropathy is rare. Here, we report a chronic hepatitis B patient who developed chronic inflammatory demyelinating polyneuropathy after receiving interferon‐α treatment. After withdrawal of interferon‐α, neurological symptoms continued to progress, but the symptoms improved after intravenous immunoglobulin treatment. This case provides further immunological insight into the correlation between chronic inflammatory demyelinating polyneuropathy and interferon‐α.