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1.
Tomography ; 10(4): 471-479, 2024 Mar 25.
Article in English | MEDLINE | ID: mdl-38668394

ABSTRACT

BACKGROUND: Refractory ascites affects the prognosis and quality of life in patients with liver cirrhosis. Peritoneovenous shunt (PVS) is a treatment procedure of palliative interventional radiology for refractory ascites. Although it is reportedly associated with serious complications (e.g., heart failure, thrombotic disease), the clinical course of PVS has not been thoroughly evaluated. OBJECTIVES: To evaluate the relationship between chronological course and complications after PVS for refractory ascites in liver cirrhosis patients. MATERIALS AND METHODS: This was a retrospective study of 14 patients with refractory ascites associated with decompensated cirrhosis who underwent PVS placement between June 2011 and June 2023. The clinical characteristics, changes in cardiothoracic ratio (CTR), and laboratory data (i.e., brain natriuretic peptide (BNP), D-dimer, platelet) were evaluated. Follow-up CT images in eight patients were also evaluated for ascites and complications. RESULTS: No serious complication associated with the procedure occurred in any case. Transient increases in BNP and D-dimer levels, decreased platelet counts, and the worsening of CTR were observed in the 2 days after PVS; however, they were improved in 7 days in all cases except one. In the follow-up CT, the amount of ascites decreased in all patients, but one patient with a continuous increase in D-dimer 2 and 7 days after PVS had thrombotic disease (renal and splenic infarction). The mean PVS patency was 345.4 days, and the median survival after PVS placement was 474.4 days. CONCLUSIONS: PVS placement for refractory ascites is a technically feasible palliative therapy. The combined evaluation of chronological changes in BNP, D-dimer, platelet count and CTR, and follow-up CT images may be useful for the early prediction of the efficacy and complications of PVS.


Subject(s)
Ascites , Liver Cirrhosis , Peritoneovenous Shunt , Tomography, X-Ray Computed , Humans , Female , Male , Retrospective Studies , Middle Aged , Liver Cirrhosis/complications , Liver Cirrhosis/diagnostic imaging , Ascites/etiology , Aged , Peritoneovenous Shunt/methods , Tomography, X-Ray Computed/methods , Treatment Outcome , Palliative Care/methods , Adult , Fibrin Fibrinogen Degradation Products/analysis
2.
Intern Med ; 63(6): 857-860, 2024 Mar 15.
Article in English | MEDLINE | ID: mdl-37587040

ABSTRACT

Paraneoplastic cerebellar degeneration (PCD) is a paraneoplastic neurological syndrome that is rarely accompanied by seropositivity with a combination of multiple antibodies. We herein report a 50-year-old man with PCD accompanied by small-cell lung cancer (SCLC). This patient was seropositive for anti-glutamic acid decarboxylase 65, anti-SRY-related HMG-box gene 1 and anti-voltage-gated calcium channel antibodies. After chemoradiation therapy without immunotherapy, cerebellar ataxia of the trunk and limbs markedly improved, along with a notable amelioration of SCLC. This case suggests that tumor therapy should be started immediately and that a panel of anti-neuronal antibodies should be evaluated when PCD with SCLC is suspected.


Subject(s)
Lung Neoplasms , Paraneoplastic Cerebellar Degeneration , Small Cell Lung Carcinoma , Male , Humans , Middle Aged , Lung Neoplasms/complications , Lung Neoplasms/therapy , Small Cell Lung Carcinoma/complications , Small Cell Lung Carcinoma/therapy , Antibodies , Chemoradiotherapy , Autoantibodies
3.
Curr Diabetes Rev ; 2023 Nov 21.
Article in English | MEDLINE | ID: mdl-37990899

ABSTRACT

BACKGROUND: Exercise therapy is the key to preventing admission of patients with type 2 diabetes mellitus (T2DM). However, a few studies have examined the effects of exercise therapy on patients with T2DM undergoing inpatient diabetes self-management education and support (IDSMES). OBJECTIVE: This study investigated whether exercise therapy influenced the incidence of admission after discharge in patients with T2DM undergoing IDSMES. METHODS: This retrospective cohort study included patients with T2DM who underwent IDSMES between June 2011 and May 2015. Overall, 258 patients were included in this study. The exercise therapy program was implemented in June 2013. Accordingly, patients diagnosed between June 2011 and May 2013 were categorized as the non-exercise therapy program group, while those diagnosed between June 2013 and May 2015 were categorized as the exercise therapy program group. Outcomes were incident diabetes-related and all-cause admissions within 1 year of discharge. Multiple logistic regression models were used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs) of the exercise therapy program's impact on the outcomes. RESULTS: Within 1 year of discharge, 27 (10.5%) patients underwent diabetes-related admissions and 62 (24.0%) underwent all-cause admissions. Multiple logistic regression analyses showed a significant association of the exercise therapy program with incident diabetes-related and allcause admissions [OR: 0.22 (95% CI: 0.08-0.59) and 0.44 (95% CI: 0.22-0.86), respectively]. CONCLUSION: Exercise therapy programs significantly lowered the incidences of diabetes-related and all-cause admissions. This indicates that implementing exercise therapy during hospitalization may be important for preventing admissions of patients with T2DM receiving IDSMES.

4.
Geriatr Gerontol Int ; 23(8): 616-621, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37439041

ABSTRACT

AIM: We assessed care receivers' sharing ratios of household tasks before they required care and investigated their relationship with caregiver burden. METHODS: A cross-sectional, online survey was completed by 272 spousal caregivers in Japan. Caregiver burden was assessed using the Zarit Burden Interview. Low and moderate-to-high caregiver burdens were defined as those with scores ≤40 and ≥41, respectively. Additionally, caregiver responses to, "How much did your partner contribute to household tasks before the onset of their condition that needed care?" were scored on a 10-point Likert scale ranging from 1 to 10. We defined answers that scored 1-4 as a low sharing ratio and those that scored 5-10 as a high sharing ratio of household tasks of care receivers before developing a condition that required care. RESULTS: Among the husband and wife caregivers, moderate-to-high caregiver burden in 33 (25.0%) and 48 (34.3%) caregivers, respectively. Multivariate logistic regression analysis showed that among the husband caregivers, the high sharing ratio of household tasks of their wives before developing a condition that required care was significantly associated with their caregiver burden (OR 4.55, 95% CI 1.20-17.27); however, no such association was observed among the wife caregivers (OR 0.85, 95% CI 0.37-2.29). CONCLUSIONS: Among husband, but not wife caregivers, the high sharing ratio of household tasks of their wives before they required care was significantly associated with their caregiver burden. Geriatr Gerontol Int 2023; 23: 616-621.


Subject(s)
Caregiver Burden , Caregivers , Humans , Cross-Sectional Studies , Spouses , Japan
5.
Heart Lung ; 62: 9-15, 2023.
Article in English | MEDLINE | ID: mdl-37290139

ABSTRACT

BACKGROUND: Muscle strength and nutritional status are associated with length of hospital stay (LOHS) in older patients with heart failure (HF). OBJECTIVES: The purpose of the study was to examine the association of the combination of muscle strength and nutritional status on LOHS in older patients with HF. METHODS: This retrospective cohort study included 414 older inpatients with HF (men, 57.2%; median age, 81 years; interquartile range, 75-86 years). Patients were categorized into four groups according to their muscle strength and nutritional status: group 1, high muscle strength and normal nutritional status; group 2, low muscle strength and normal nutritional status; group 3, high muscle strength and malnutrition; and group 4, low muscle strength and malnutrition. The outcome variable was the LOHS, and an LOHS of >16 days was defined as long LOHS. RESULTS: Multivariate logistic regression analysis adjusted for baseline characteristics (reference, group 1) showed that group 4 was associated with a more significant risk of long LOHS (odds ratio [OR], 3.54 [95% confidence interval, 1.85-6.78]). In the subgroup analysis, this relationship was maintained for the first admission HF group (OR, 4.65 [2.07-10.45]) but not for the HF readmission group (OR, 2.80 [0.72-10.90]). CONCLUSIONS: Our results suggest that the long LOHS for older patients with HF at first admission was associated with a combination of low muscle strength and malnutrition but not by either factor individually.


Subject(s)
Heart Failure , Malnutrition , Male , Humans , Aged , Aged, 80 and over , Length of Stay , Retrospective Studies , Nutrition Assessment , Malnutrition/epidemiology , Malnutrition/complications , Nutritional Status , Muscle Strength , Heart Failure/complications , Heart Failure/epidemiology
7.
Intern Med ; 62(23): 3541-3544, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37062729

ABSTRACT

The anti-GQ1b IgG antibody is often accompanied by other anti-ganglioside antibodies, which induces various neurological symptoms. We herein report a patient with anti-ganglioside antibodies, including anti-GQ1b IgG and anti-GT1a IgG antibodies, showing bilateral ophthalmoplegia, facial nerve palsies, dysarthria, dysphagia, dysesthesia in both hands, and enhancement of the bilateral oculomotor, abducens, and facial nerves on gadolinium (Gd)-enhanced T1-weighted brain magnetic resonance imaging (MRI). He was first treated with intravenous immunoglobulin, which improved ophthalmoplegia, bulbar palsies, and dysesthesia of hands, but the facial nerve palsies worsened, and Gd enhancement of the brain nerves persisted. High-dose methylprednisolone therapy subsequently improved the facial nerve palsies and Gd enhancement of the cranial nerves. This is the first case with anti-ganglioside antibodies presenting with multiple cranial nerve palsies that was followed to track the changes in the Gd enhancement of cranial nerves on MRI.


Subject(s)
Cranial Nerve Diseases , Facial Paralysis , Miller Fisher Syndrome , Ophthalmoplegia , Male , Humans , Gadolinium , Gangliosides , Paresthesia , Cranial Nerve Diseases/diagnostic imaging , Cranial Nerve Diseases/drug therapy , Cranial Nerve Diseases/complications , Immunoglobulins, Intravenous/therapeutic use , Facial Paralysis/complications , Ophthalmoplegia/complications , Magnetic Resonance Imaging , Miller Fisher Syndrome/diagnosis
8.
Leuk Res ; 128: 107057, 2023 05.
Article in English | MEDLINE | ID: mdl-36989578

ABSTRACT

INTRODUCTION: Poor skeletal muscle function is relatively high in patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT), leading to various negative health outcomes. This study aimed to investigate the relationship between the quantity and quality of skeletal muscle before transplantation and the short-to long-term survival after transplantation in patients undergoing allo-HSCT. METHODS: This retrospective cohort study included 156 patients undergoing allo-HSCT (men, 67.3 %; median age, 53 years; interquartile range, 42-61 years). The quantity and quality of the skeletal muscle were measured at the psoas major at the level of the third lumbar vertebrae using a computed tomography (CT) and were defined as psoas muscle index (PMI) and CT values (CTV), respectively. The outcome measure of this study was overall survival (OS) after allo-HSCT, and we examined the relationship between survival at three time points (6, 12, and 24 months) after transplantation, PMI, and CTV. RESULTS: PMI was significantly associated with survival at all time points in the crude model (P < 0.001), and a significant association was observed in the fully adjusted model (P < 0.01). CTV was significantly associated with survival at all time points in the crude model (P < 0.05), but not in the fully adjusted model (P > 0.05). CONCLUSIONS: We found that the quantity and quality of the skeletal muscle before transplantation were significantly associated with OS at 6, 12, and 24 months after transplantation, showing a particularly robust association with quantity.


Subject(s)
Hematopoietic Stem Cell Transplantation , Muscle, Skeletal , Male , Humans , Middle Aged , Retrospective Studies , Muscle, Skeletal/diagnostic imaging , Hematopoietic Stem Cell Transplantation/methods , Transplantation, Homologous
9.
Jpn J Radiol ; 41(3): 258-265, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36350523

ABSTRACT

Pelvic fractures are common in cases of blunt trauma, which is strongly associated with mortality. Transcatheter arterial embolization is a fundamental treatment strategy for fatal arterial injuries caused by blunt pelvic trauma. However, vascular injuries due to blunt pelvic trauma can show various imaging findings other than arterial hemorrhage. We present a pictorial review of common and uncommon vascular injuries, including active arterial bleeding, pseudoaneurysm, arteriovenous fistula, arterial occlusion, vasospasm, and active venous bleeding. Knowledge of these vascular injuries can help clinicians select the appropriate therapeutic strategy and thus save lives.


Subject(s)
Arteriovenous Fistula , Embolization, Therapeutic , Vascular System Injuries , Wounds, Nonpenetrating , Humans , Vascular System Injuries/diagnostic imaging , Vascular System Injuries/etiology , Vascular System Injuries/therapy , Pelvis/diagnostic imaging , Hemorrhage/diagnostic imaging , Hemorrhage/etiology , Hemorrhage/therapy , Embolization, Therapeutic/methods , Arteriovenous Fistula/diagnostic imaging , Arteriovenous Fistula/etiology , Arteriovenous Fistula/therapy , Wounds, Nonpenetrating/complications , Wounds, Nonpenetrating/diagnostic imaging , Wounds, Nonpenetrating/therapy
10.
Ageing Int ; 48(2): 612-629, 2023.
Article in English | MEDLINE | ID: mdl-35528947

ABSTRACT

Objectives: This study examined the social factors affecting the frequency of going out, and social isolation related to the frequency of daily conversation, stratified by gender. Method: The participants comprised 1,016 community-dwelling older Japanese adults, who were categorized into four groups: those who are (1) not isolated socially and go out every day, (2) not isolated socially and do not go out every day, (3) socially isolated and go out every day, and (4) socially isolated and do not go out every day. We performed a logistic regression analysis to assess the relationship between the frequency of daily conversation and the four groups. Results: Our multivariable logistic regression analysis (reference, group 1) showed that the coexistence of poor social factors significantly affected men (group 2: odds ratio [OR] 2.13 [1.10 to 4.12]; group 3: OR 2.92 [1.70 to 5.00]; and group 4: OR 4.28 [2.43 to 7.54]). For women, the frequency of going out was related to daily conversation only with social isolation group (group 2: OR 1.51 [0.77 to 2.98]; group 3: OR 2.42 [1.25 to 4.68]; and group 4: OR 3.81 [2.08 to 7.00]). Conclusion: Our findings suggest that promoting daily conversations of community-dwelling older adults can help prevent related health adversities.

11.
BMC Neurol ; 22(1): 406, 2022 Nov 03.
Article in English | MEDLINE | ID: mdl-36329418

ABSTRACT

BACKGROUND: Variants in the valosin-containing protein (VCP) gene were identified as one of the causes for inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia (FTD). Previously identified pathogenic variants in VCP are associated with frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) pathologically, but p.Asp395Gly VCP was recently reported to cause familial FTD with tauopathy characterized by neurofibrillary tau tangles (NFT) and not FTLD-TDP. We describe the clinical and genetic findings of a patient with p.Asp395Gly valosin-containing protein (VCP), who was diagnosed with FTD without a family history and in the absence of muscle or bone disease comorbidity. CASE PRESENTATION: The patient was a 62-year-old man, who developed atypical depression at the age of 37 years. Subsequently, he presented with self-centered behavior at the age of 45 years. The self-centered behavior intensified from around the age of 50 years, which was accompanied by the development of executive dysfunction; therefore, he visited our hospital at 52 years of age. Magnetic resonance imaging revealed bilateral frontal lobe atrophy. Brain perfusion single-photon emission computed tomography revealed bilateral frontal lobe hypoperfusion. The patient fulfilled the diagnostic criteria for behavioral variant of FTD. Ten years after the diagnosis, computed tomography of the trunk and limbs, muscle biopsy, and bone scintigraphy revealed the absence of concomitant muscle and bone disease. The concentrations of cerebrospinal fluid (CSF) total tau and phosphorylated tau proteins were 389 pg/mL and 53.2 pg/mL (cut-off: 50 pg/mL), respectively. Genetic analyses were performed using the whole-exome and Sanger sequencing methods. We identified p.Asp395Gly VCP in this patient with pure FTD. CONCLUSIONS: p.Asp395Gly VCP was identified in a patient with likely sporadic FTD without concomitant muscle and bone disease. The CSF analysis suggested that our patient may have FTD due to NFT accumulation similar to the familial FTD patients with p.Asp395Gly VCP recently reported. Our findings suggest that a genetic search for the pathogenic variants of VCP should be considered not only for familial FTD, but also for patients with sporadic FTD, even in the absence of comorbid muscle or bone disease.


Subject(s)
Bone Diseases , Frontotemporal Dementia , Frontotemporal Lobar Degeneration , Male , Humans , Adult , Middle Aged , Frontotemporal Dementia/complications , Frontotemporal Dementia/genetics , Frontotemporal Dementia/pathology , Valosin Containing Protein/genetics , Valosin Containing Protein/metabolism , Mutation/genetics , DNA-Binding Proteins/genetics
12.
Geriatr Gerontol Int ; 22(10): 870-875, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36054268

ABSTRACT

INTRODUCTION: Dysphagia has received much attention as a factor that affects caregiver burden. However, few studies have examined how its severity can affect caregiver burden. This study aimed to examine the effect of dysphagia severity on caregiver burden. METHODS: A cross-sectional online survey was carried out among family caregivers. We assessed caregiver burden using the Zarit Burden Interview. The dysphagia severity was assessed using the Functional Oral Intake Scale, and the caregivers were divided into three groups based on care receivers' oral intake status (levels 1-3: tube-feeding group; levels 4-6: texture-modified food group; level 7: normal group). To investigate the relationship between caregiver burden and dysphagia severity, univariable and multivariable logistic regression analyses were applied to caregiver burden. RESULTS: The Zarit Burden Interview was significantly higher in the texture-modified food group, and the proportions of high caregiver burden reached 25.2%, 39.5% and 23.4% in the normal group, texture-modified food group and tube-feeding group, respectively. The multivariable analyses applied to caregiver burden (reference, normal group) showed that the texture-modified food group was significantly associated with caregiver burden (OR 1.55, 95% CI 1.04-2.32), whereas the tube-feeding group had no relationship with caregiver burden (OR 0.68, 95% CI 0.31-1.49). CONCLUSIONS: Our study showed that the intake of texture-modified food significantly affected caregiver burden even after adjusting for confounding factors, whereas the use of tube feeding did not increase caregiver burden. These results suggest that it is necessary to consider dysphagia severity to reduce dysphagia-related caregiver burden. Geriatr Gerontol Int 2022; 22: 870-875.


Subject(s)
Caregiver Burden , Caregivers , Deglutition Disorders , Cost of Illness , Cross-Sectional Studies , Humans
13.
Acta Neurol Scand ; 146(5): 680-689, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36114711

ABSTRACT

OBJECTIVE: We previously investigated the preclinical state of idiopathic normal pressure hydrocephalus (iNPH): asymptomatic ventriculomegaly with features of iNPH on magnetic resonance imaging (AVIM) found in community inhabitants. The aim of the study was to determine how iNPH develops longitudinally. MATERIALS AND METHODS: A previous longitudinal prospective community-based cohort study was initiated in 2000. The 271 70 year-old participants were followed up in 2016 at the age of 86 years. At this time, 104 participants could be reached for clinical examinations and brain magnetic resonance imaging (MRI). iNPH in this study was diagnosed if the participant had more than one symptom in the clinical triad and disproportionately enlarged subarachnoid space hydrocephalus (DESH) on MRI, fulfilling at least an Evans index >0.3 (ventricular enlargement, VE) and a narrowing of the subarachnoid space at the high convexity (tight high convexity, THC). Asymptomatic VE (AVE) plus THC were considered AVIM. RESULTS: Longitudinally throughout 16 years, 11 patients with iNPH were found. The hospital consultation rate was only 9%. Five of the eight patients with AVIM (62.5%) and six of 30 with AVE (20.0%) developed iNPH. Cross-sectionally, eight patients had iNPH (8/104, 7.7% prevalence at the age of 86) in 2016. Disease development was classified into THC-preceding and VE-preceding iNPH. One VE-preceding iNPH case was considered a comorbidity of Alzheimer's dementia. CONCLUSION: Idiopathic normal pressure hydrocephalus had a high prevalence among octogenarians in the evaluated community. iNPH developed not only via AVIM but also via AVE, the latter was also frequent in the elderly.


Subject(s)
Hydrocephalus, Normal Pressure , Aged , Aged, 80 and over , Humans , Cohort Studies , Hydrocephalus, Normal Pressure/diagnostic imaging , Hydrocephalus, Normal Pressure/epidemiology , Japan/epidemiology , Longitudinal Studies , Magnetic Resonance Imaging , Prevalence , Prospective Studies
14.
Curr Alzheimer Res ; 19(6): 458-468, 2022.
Article in English | MEDLINE | ID: mdl-35761496

ABSTRACT

BACKGROUND: No previous study has examined the effect of dual-task training using changes in regional cerebral blood flow (rCBF) using single-photon emission computed tomography (SPECT) as an outcome. OBJECTIVE: This study aimed to examine the effects of simultaneous dual-task training of exercise and cognitive tasks on rCBF using SPECT in older adults with amnestic mild cognitive impairment (aMCI). METHODS: In this non-randomized control trial, 40 older adults with aMCI participated from May 2016 to April 2018. Outpatients in the intervention group (n = 22) underwent 24 sessions (12 months) of dualtask training twice a month for 60 mins per session. Participants in the control group (n = 18) continued to have regular outpatient visits. The primary outcome was rCBF at baseline and after 12 months, which was compared in each group using the two-sample t-test. The secondary outcomes were the rate of reversion and conversion from aMCI after 12 months. RESULTS: Of the 22 participants in the intervention group, six dropped out; therefore, 16 were included in the analysis. The intervention group showed more significant increases in rCBF in multiple regions, including the bilateral frontal lobes, compared with the control group. However, the rates of reversion or conversion from mild cognitive impairment (MCI) were not significantly different. CONCLUSION: Dual-task training for older adults with aMCI increased rCBF in the frontal gyrus but did not promote reversion from MCI to normal cognition. Future intervention studies, such as follow-up examinations after the intervention, are warranted to consider long-term prognosis.


Subject(s)
Cognitive Dysfunction , Aged , Humans , Cerebrovascular Circulation/physiology , Cognition , Frontal Lobe , Tomography, Emission-Computed, Single-Photon
15.
Bone ; 162: 116474, 2022 09.
Article in English | MEDLINE | ID: mdl-35752409

ABSTRACT

OBJECTIVE: Falls and fractures are serious geriatric adverse events worldwide, and skeletal muscle is considered to be a key factor in these incidents. The objective of this study was to investigate the combined effect of lower muscle quality and quantity on the incidence of falls and fall-related fractures in a 3-year follow-up period among community-dwelling older adults. METHODS: We recruited community-dwelling adults aged 65 years and older who were living independently in 2018. A total of 773 older participants were analyzed in this study. The outcomes were incident falls and fall-related fractures during the 3-year follow-up period. At baseline, we assessed muscle quality and quantity using ultrasonography, and we categorized the participants into four groups based on their combination of poor/better muscle quality and poor/better muscle quantity. Cox proportional hazards models were used to estimate the hazard ratios (HRs) and 95 % confidence intervals (CIs) of the relationships among items in the four groups and the time to incident falls and fall-related fractures. RESULTS: During the 3-year follow-up period, 178 participants (23.0 %) had a fall incident and 51 participants (6.6 %) had fall-related fractures. Older adults with lower muscle quality and quantity had significantly elevated risks of incident falls according to multivariate analyses using older adults with better muscle quality and quantity as the reference (adjusted HR: 1.54 [95 % CI 1.06-2.23]). However, there were no significant differences in fall-related fractures among the four groups. CONCLUSION: We found that lower muscle quality and quantity led to higher incidents of falls; thus, identifying community-dwelling older adults with lower muscle quality and quantity is necessary to provide them fall preventive measures and maybe to reduce fall-related outcomes.


Subject(s)
Accidental Falls , Fractures, Bone , Muscle, Skeletal , Aged , Follow-Up Studies , Fractures, Bone/etiology , Humans , Independent Living , Muscle Strength , Muscle, Skeletal/physiopathology
16.
BMC Neurol ; 22(1): 193, 2022 May 25.
Article in English | MEDLINE | ID: mdl-35614401

ABSTRACT

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CYP27A1 mutation, showing different clinical phenotypes and responses to chenodeoxycholic acid (CDCA) therapy. CASE PRESENTATION: The proband, a 32-year-old man, who had chronic diarrhea, bilateral cataracts, and xanthomas, demonstrated progressive neurological manifestations including ataxia, and spastic paraplegia during a 5-year follow-up period despite normalization of serum cholestanol after initiation of CDCA treatment. He also exhibited cognitive decline although improvement had been observed at the beginning of treatment. Follow-up brain magnetic resonance imaging (MRI) revealed pronounced progressive atrophy in the cerebellum, in addition to expanding hyperintense lesions in the dentate nuclei, posterior limb of the internal capsule, cerebral peduncles, and inferior olives on T2-weighted images. In contrast, the two-year-younger sister of the proband presented with chronic diarrhea, cataracts, xanthomas, and intellectual disability but no other neurological symptoms at the time of diagnosis. CDCA treatment lead to improvement of cognitive function and there were no characteristic CTX-related MRI features during the follow-up period. The siblings shared a paternally inherited c.1420C > T mutation (p.Arg474Trp) and a maternally inherited novel c.1176_1177delGA mutation, predicting p.(Glu392Asp*20). CONCLUSIONS: Our cases suggest that early diagnosis and subsequent initiation of CDCA treatment are crucial before the appearance of characteristic MRI findings and severe neurological manifestations related to CTX. Further studies are required to elucidate mechanisms responsible for the clinical diversity of CTX and prognostic factors for long-term outcomes following initiation of CDCA treatment.


Subject(s)
Cataract , Xanthomatosis, Cerebrotendinous , Xanthomatosis , Cataract/genetics , Chenodeoxycholic Acid/therapeutic use , Cholestanetriol 26-Monooxygenase/genetics , Cholestanetriol 26-Monooxygenase/therapeutic use , Diarrhea/drug therapy , Humans , Japan , Male , Mutation/genetics , Siblings , Xanthomatosis/drug therapy , Xanthomatosis, Cerebrotendinous/complications , Xanthomatosis, Cerebrotendinous/drug therapy , Xanthomatosis, Cerebrotendinous/genetics
17.
Minim Invasive Ther Allied Technol ; 31(7): 1066-1069, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35373696

ABSTRACT

Percutaneous transhepatic stent-graft placement usually requires more than a 12 F sheath, which has a higher potential risk of peritoneal hemorrhage. A case of postoperative portal vein hemorrhage after pancreaticoduodenectomy treated using a Viabahn VBX balloon expanding stent-graft is described in this report. The stent-graft was delivered using an 8 F sheath through a transhepatic approach and deployed from the superior mesenteric vein to the main portal vein. Hemostasis was achieved and graft patency was confirmed one year after the procedure.


Subject(s)
Portal Vein , Stents , Hemorrhage/etiology , Hemorrhage/surgery , Humans , Pancreaticoduodenectomy , Portal Vein/surgery , Treatment Outcome
18.
J Neurol Sci ; 437: 120266, 2022 06 15.
Article in English | MEDLINE | ID: mdl-35486971

ABSTRACT

BACKGROUND: Idiopathic normal pressure hydrocephalus (iNPH) is primarily characterized by cognitive impairment and gait disturbance. Our objective was to evaluate the clinical characteristics of iNPH and the association between cerebral blood flow (CBF), measured using single-photon emission computed tomography (SPECT), and both cognitive and gait disturbances in iNPH patients. METHODS: We compared cognitive and motor functions and neuroimaging findings between 29 iNPH patients and 35 age-matched Parkinson's disease (PD) patients. We examined the associations between cognitive and motor dysfunctions and CBF in iNPH patients using 99mTc-ECD SPECT subtraction imaging data from a database of healthy control subjects. RESULTS: The cognitive function of iNPH patients, as measured by the Mini-Mental State Examination (MMSE) and Frontal Assessment Battery (FAB), was significantly poorer than that of PD patients; however motor function of the legs based on the Unified PD Rating Scale (UPDRS) part III was similar across groups. Impairment in cognitive function based on the MMSE and FAB was significantly correlated with motor dysfunction of the legs on the UPDRS part III and the 3-m Timed Up and Go test. Furthermore, 99mTc-ECD SPECT subtraction imaging revealed lower CBF in the bilateral lingual gyrus of iNPH patients with severely impaired cognitive and motor functions than healthy control subjects. CONCLUSION: Patients with iNPH have severely impaired cognitive function; however, motor dysfunction of the legs is similar to PD patients. The cognitive and gait disturbances of iNPH are significantly interrelated, which may be associated with an impaired brain network that includes the bilateral lingual gyrus.


Subject(s)
Cognitive Dysfunction , Hydrocephalus, Normal Pressure , Parkinson Disease , Cerebrovascular Circulation , Cognitive Dysfunction/complications , Cognitive Dysfunction/etiology , Gait , Humans , Hydrocephalus, Normal Pressure/complications , Hydrocephalus, Normal Pressure/diagnostic imaging , Occipital Lobe , Parkinson Disease/complications , Parkinson Disease/diagnostic imaging , Postural Balance , Time and Motion Studies
19.
Heart Vessels ; 37(8): 1356-1362, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35122493

ABSTRACT

The clinical importance of nutritional management in activities of daily living (ADL) among older inpatients with heart failure (HF) is greatly increasing. We determined the optimal nutritional assessment tool that can predict ADL decline among older inpatients with HF. We prospectively investigated 91 inpatients aged ≥ 65 years with HF in an acute hospital. We measured their nutritional status at admission using nutrition indices: the controlling nutritional status (CONUT), the geriatric nutritional risk index, the prognostic nutritional index, and the mini nutritional assessment. Logistic regression analysis was used to estimate the odds ratios (ORs) and 95% confidence intervals (CIs) of the relationships between the malnutrition status assessed by each nutritional index category and the ADL decline measured by the Barthel index (BI) in the univariate and multivariate analyses. Among the participants, 28.6% (n = 26; median age 81.5 years; 69.2% men) of the participants were included in the Reduced BI group and 71.4% (n = 65; median age 79.0 years; 67.7% men) in the Maintained BI group. The Reduced BI group showed a significantly higher CONUT value than the Maintained BI group, but there were no significant differences in other nutritional indices. In the multivariate logistic regression analysis, a higher CONUT score was associated with a significantly elevated risk of Reduced BI (adjusted OR 0.24; 95%CI 0.08-0.75; p = 0.014). We found that CONUT is an appropriate nutritional assessment tool for predicting ADL decline among older inpatients with HF in the early phase of hospitalization.


Subject(s)
Heart Failure , Malnutrition , Activities of Daily Living , Aged , Aged, 80 and over , Female , Geriatric Assessment , Heart Failure/complications , Heart Failure/diagnosis , Humans , Male , Malnutrition/complications , Malnutrition/diagnosis , Nutrition Assessment , Nutritional Status , Prognosis
20.
PM R ; 14(10): 1167-1176, 2022 10.
Article in English | MEDLINE | ID: mdl-34375019

ABSTRACT

BACKGROUND: The extent of rehabilitation is a key element in promoting functional recovery in patients with stroke. However, the type of rehabilitation therapy that should be provided to improve functional outcomes remains unclear. OBJECTIVE: To compare the effects of three different rehabilitation provision systems, namely conventional rehabilitation therapy, conventional rehabilitation therapy plus physical therapy (PT) on weekends, and conventional rehabilitation therapy plus PT and occupational therapy (OT) on weekends, on functional recovery in patients with subacute stroke. DESIGN: Retrospective observational cohort study. SETTING: Convalescence rehabilitation hospital. PATIENTS: Three hundred one patients with subacute stroke (mean age, 69.7 ± 12.8 years). INTERVENTIONS: Patients were classified into three groups according to rehabilitation therapy they received: a conventional group (only weekdays PT and OT; n = 70), an additional PT group (additional PT on weekends; n = 119), and an additional PT + OT group (additional PT and OT on weekends; n = 112). MAIN OUTCOME MEASURE: Functional Independence Measure (FIM) effectiveness was calculated as (discharge FIM - admission FIM/maximum FIM - admission FIM) × 100. A multivariate general linear model was used to assess the difference in FIM effectiveness among the groups. RESULTS: The mean FIM effectiveness in the conventional, additional PT, and additional PT + OT groups were 39.3 ± 30.1, 43.4 ± 33.2, and 54.3 ± 29.1, respectively. The multivariate analysis revealed a significant difference in FIM effectiveness among the three groups (p = .036), and the ηp 2 was 0.02, indicating a small effect. The additional PT + OT group showed significantly greater improvements in FIM effectiveness than the conventional group (mean difference = 8.78, SE = 3.58, 95% confidence interval: 0.17-17.39). CONCLUSIONS: This study showed that the additional PT + OT group had better functional recovery than did the conventional group. This indicates that increasing the amount of both PT and OT can promote poststroke functional recovery.


Subject(s)
Occupational Therapy , Stroke Rehabilitation , Stroke , Humans , Middle Aged , Aged , Aged, 80 and over , Retrospective Studies , Recovery of Function , Treatment Outcome
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