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1.
Respirol Case Rep ; 11(10): e01221, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37711651

RESUMO

Six years ago, a 60-year-old man presented to our hospital with a cough and sputum. Upon suspicion of nontuberculous mycobacterial (NTM) infection, he was followed up at our hospital. Because the abnormal shadows in the bilateral lung fields deteriorated slightly over 6 years, bronchoscopy was performed. Exophiala dermatitidis and Mycobacterium intracellulare were detected in the bronchial lavage fluid. The patient underwent follow-up examinations without drug administration. Currently, the patient's condition remains stable. E. dermatitidis is regulatory found in the lungs of patients with cystic fibrosis, but only rarely is it found in respiratory samples from patients without cystic fibrosis. However, NTM complications have been reported more frequently in recent years. Due to the increasing number of NTM patients, E. dermatitidis pulmonary infections may also increase. Additional research is required to develop strategies for treating this infection.

2.
Sci Rep ; 13(1): 12003, 2023 07 25.
Artigo em Inglês | MEDLINE | ID: mdl-37491439

RESUMO

Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-stage renal disease. Monogenic FSGS is primarily ascribed to decreased podocyte integrity. Variants between residues 184 and 245 of INF2, an actin assembly factor, produce the monogenic FSGS phenotype. Meanwhile, variants between residues 57 and 184 cause a dual-faceted disease involving peripheral neurons and podocytes (Charcot-Marie-Tooth CMT/FSGS). To understand the molecular basis for INF2 disorders, we compared structural and cytoskeletal effects of INF2 variants classified into two subgroups: One (G73D, V108D) causes the CMT/FSGS phenotype, and the other (T161N, N202S) produces monogenic FSGS. Molecular dynamics analysis revealed that all INF2 variants show distinct flexibility compared to the wild-type INF2 and could affect stability of an intramolecular interaction between their N- and C-terminal segments. Immunocytochemistry of cells expressing INF2 variants showed fewer actin stress fibers, and disorganization of cytoplasmic microtubule arrays. Notably, CMT/FSGS variants caused more prominent changes in mitochondrial distribution and fragmentation than FSGS variants and these changes correlated with the severity of cytoskeletal disruption. Our results indicate that CMT/FSGS variants are associated with more severe global cellular defects caused by disrupted cytoskeleton-organelle interactions than are FSGS variants. Further study is needed to clarify tissue-specific pathways and/or cellular functions implicated in FSGS and CMT phenotypes.


Assuntos
Glomerulosclerose Segmentar e Focal , Podócitos , Humanos , Proteínas dos Microfilamentos/metabolismo , Glomerulosclerose Segmentar e Focal/complicações , Forminas/genética , Actinas/genética , Mutação , Citoesqueleto/metabolismo , Podócitos/metabolismo
3.
Mol Phylogenet Evol ; 182: 107735, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36805472

RESUMO

Megascolecid earthworms of the pheretimoid group are dominant detritivores of soil ecosystems in the Japanese Archipelago and East Asia. However, their diversity and phylogenetic relationships are poorly understood. We assembled whole mitogenome sequences for 197 megascolecid earthworms collected throughout Japan to study the phylogenetic relationships, phylogeography, divergence times, and diversification of important morphological characteristics among pheretimoid earthworms. Using 197 mitogenome sequences and 24 published mitogenome sequences from the East Asian mainland (221 sequences in total), we constructed a maximum likelihood tree and found that the pheretimoid earthworms currently assigned to Amynthas, Metaphire, Duplodicodrilus, and Manus are involved in the most senior genus Amynthas; thus, Amynthas can be treated as the sole genus encompassing all of the above genera. Within the Amynthas group, we identified three major lineages that led to four groups of endemic species in Japan. These lineages originated from different lineages on the East Asian mainland and Taiwan Island, indicating multiple colonization events from the East Asian mainland by different ancestral lineages, possibly after the Miocene. We also assembled nuclear ribosomal DNA sequences encompassing the 18S to 28S rRNA genes. The nuclear gene tree showed major groups consistent with the mitogenome tree except for different (and not well-resolved) relationships among major clades. Our molecular data covered 115-158 native and 7 non-native Amynthas group species in Japan in terms of DNA-based species delimitation. Our findings provide a basis for understanding the evolutionary relationships among diversified megascolecid earthworms in the Amynthas group in Japan and adjacent regions.


Assuntos
Oligoquetos , Animais , Evolução Biológica , DNA , Ecossistema , Oligoquetos/anatomia & histologia , Oligoquetos/classificação , Filogenia , Filogeografia , Japão
4.
Cerebrovasc Dis ; 52(1): 75-80, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35917807

RESUMO

BACKGROUND: The peak oxygen consumption (V.O2peak) and blood hemoglobin concentration [Hb] are lower in stroke patients than in age-matched healthy subjects. The ability of skeletal muscles to extract oxygen is diminished after stroke. We hypothesized that the oxygen extraction capacity of skeletal muscles in stroke patients depends on [Hb]. To test the hypothesis, we determined the relationship between V.O2peak and total hemoglobin mass (tHb-mass) in stroke patients. METHODS: The subjects were 19 stroke patients (age: 74 ± 2, mean ± SD, 10 males) and 11 age-matched normal subjects (age 76 ± 3, 6 males). Plasma volume (PV) and V.O2peak were measured on the same day. PV was measured using Evans Blue dye dilution method. Blood volume (BV) was calculated from PV and hematocrit, while tHb-mass was estimated from BV and [Hb]. Each subject underwent cardiopulmonary exercise test on a bicycle ergometer using a V.O2peak respiratory gas analyzer. RESULTS: There were no differences in age, height, and weight between the two groups. V.O2peak was lower in stroke patients than in the control. BV and tHb mass were not significantly different between the two groups, but [Hb] was significantly lower in stroke patients. In stroke patients, V.O2peak correlated significantly with tHb-mass (r = 0.497, p < 0.05), but not with BV. CONCLUSION: Our results suggested that low [Hb] seems to contribute to V.O2peak in stroke patients. The significant correlation between tHb-mass and V.O2peak suggested that treatment to improve [Hb] can potentially improve V.O2peak in stroke patients.


Assuntos
Consumo de Oxigênio , Acidente Vascular Cerebral , Idoso , Humanos , Masculino , Teste de Esforço , Hemoglobinas/metabolismo , Oxigênio , Consumo de Oxigênio/fisiologia , Acidente Vascular Cerebral/diagnóstico , Feminino
5.
J Anus Rectum Colon ; 6(4): 259-263, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36348947

RESUMO

Objectives: Acute appendicitis is a common disease that often requires emergency surgery. However, recently, not all cases are treated as an urgent operation, but surgery may be delayed to when medical resources are abundant to perform the operation safely. In such cases, preoperative antibiotics are administered during the waiting period. Though the choice is empiric, an appropriate choice is needed to avoid emergency surgery. Guidelines for the choice of antibiotics recognized as international standards cannot be applied in Asia due to the high rate of extended-spectrum ß-lactamase (ESBL) producers or fluoroquinolone-resistant Escherichia coli. The purpose of this study was to determine the optimal antibiotic during the in-hospital waiting period for patients with appendicitis scheduled for surgery. Methods: Bacterial culture results and antibiotic susceptibility were retrospectively examined in 106 cases who underwent surgery for appendicitis. Results: Bacterial cultures were positive in 53 cases (50%). Twenty-six strains of E. coli were identified. Of these, four (15%) were ESBL producers, and seven (27%) were fluoroquinolone resistant. Twenty-two strains of anaerobic bacteria were identified. Carbapenems and tazobactam/piperacillin were effective for all. The rates of susceptibility to clindamycin (CLDM) and cefmetazole (CMZ) were 59% and 82%, respectively. Conclusions: In Japan, from the point of view of reducing carbapenem use, CMZ must be considered a first-choice drug during the in-hospital waiting period for appendectomy.

6.
BMC Sports Sci Med Rehabil ; 14(1): 38, 2022 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-35292094

RESUMO

BACKGROUND: Blood volume (BV) is a critical factor for physical endurance in chronic stroke patients, while hypervolemia can worsen hypertension in these patients. This prospective study assessed whether rehabilitation combined with protein supplementation immediately after each exercise for 3 weeks would improve plasma volume (PV) and BV as well as physical endurance without worsening hypertension. METHODS: Ambulatory patients with chronic cerebrovascular disease who received a 3-week rehabilitation program with high protein jelly (intervention group [PG]; n = 8; 10-g protein) or protein-free jelly (control group [CG]; n = 8) consumed within 30 min after each exercise. PV and BV were assessed while measuring the 6-min walking distance (6MWD), peak oxygen consumption (VO2peak), strength of knee extension, and resting blood pressure before and after the intervention. Two-way ANOVA was used to determine whether there was an interaction of time × group. The difference between before and after intervention or between the groups by post-hoc test (Tukey's test) at the level of P < 0.05. RESULTS: The 6MWD increased only in the PG (P = 0.001; an interaction of Group and Time, P = 0.037). PV and BV increased only in the PG (P < 0.05). VO2peak and strength of knee extension in the paralysed limb increased in both groups (P < 0.05). The resting blood pressure did not worsen after the intervention. CONCLUSIONS: In chronic post-stroke patients, 3-week rehabilitation combined with protein intake immediately after exercise increased 6MWD simultaneously with increased PV and BV, but it did not increase resting blood pressure. The present regimen is acceptable and effective for ambulatory patients with chronic cerebrovascular disease. Name of the registry Examining effects of protein supplementation on functional improvement during rehabilitation intervention in chronic stroke patients Trial registration number UMIN000028009; date of registration: 30/06/2017. This study was registered prospectively.

7.
Prog Rehabil Med ; 7: 20220010, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35291309

RESUMO

Background: Middle-aged and older individuals with spinal cord injury (SCI) often require long-term care even after receiving rehabilitation treatment, making it difficult for them to return home. We retrospectively investigated our active rehabilitation treatment for patients with SCI. Case: Included in this case series were ten patients with SCI who were admitted to our general hospital (located in the southern part of Wakayama Prefecture) and who underwent active rehabilitation treatment. The participants were investigated retrospectively by access to electronic medical records. The Barthel index scores for discharged patients were determined at an outpatient clinic, and the community phase of rehabilitation management was recorded. The average age of the 10 patients was 67.4 ± 13.4 years, and the average period from onset to transfer to our hospital was 102.6 ± 69.9 days. The Barthel index scores significantly improved from 39.0 ± 30.9 at admission to 65.0 ± 28.2 at discharge (P<0.05). Among the seven patients who were discharged to their homes, six had cervical SCI. Some patients with American Spinal Injury Association impairment scale grades A and B at admission could be discharged home, and their Barthel index scores were maintained after discharge. Discussion: : Even in a remote rural hospital, the activities of daily living of patients with SCI improved, and seven of the ten patients were discharged home. The activities of daily living of the discharged patients were maintained. To achieve these results, active rehabilitation treatment conducted by rehabilitation specialists is important.

8.
Ecol Appl ; 32(2): e2523, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34921463

RESUMO

Recent foodborne illness outbreaks have heightened pressures on growers to deter wildlife from farms, jeopardizing conservation efforts. However, it remains unclear which species, particularly birds, pose the greatest risk to food safety. Using >11,000 pathogen tests and 1565 bird surveys covering 139 bird species from across the western United States, we examined the importance of 11 traits in mediating wild bird risk to food safety. We tested whether traits associated with pathogen exposure (e.g., habitat associations, movement, and foraging strategy) and pace-of-life (clutch size and generation length) mediated foodborne pathogen prevalence and proclivities to enter farm fields and defecate on crops. Campylobacter spp. were the most prevalent enteric pathogen (8.0%), while Salmonella and Shiga-toxin producing Escherichia coli (STEC) were rare (0.46% and 0.22% prevalence, respectively). We found that several traits related to pathogen exposure predicted pathogen prevalence. Specifically, Campylobacter and STEC-associated virulence genes were more often detected in species associated with cattle feedlots and bird feeders, respectively. Campylobacter was also more prevalent in species that consumed plants and had longer generation lengths. We found that species associated with feedlots were more likely to enter fields and defecate on crops. Our results indicated that canopy-foraging insectivores were less likely to deposit foodborne pathogens on crops, suggesting growers may be able to promote pest-eating birds and birds of conservation concern (e.g., via nest boxes) without necessarily compromising food safety. As such, promoting insectivorous birds may represent a win-win-win for bird conservation, crop production, and food safety. Collectively, our results suggest that separating crop production from livestock farming may be the best way to lower food safety risks from birds. More broadly, our trait-based framework suggests a path forward for co-managing wildlife conservation and food safety risks in farmlands by providing a strategy for holistically evaluating the food safety risks of wild animals, including under-studied species.


Assuntos
Animais Selvagens , Escherichia coli Shiga Toxigênica , Animais , Aves , Bovinos , Fazendas , Salmonella , Estados Unidos
9.
iScience ; 24(9): 103066, 2021 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-34568790

RESUMO

To interrogate particular neuronal pathways in nonhuman primates under natural and stress-free conditions, we applied designer receptors exclusively activated by designer drugs (DREADDs) technology to common marmosets. We injected adeno-associated virus vectors expressing the excitatory DREADD hM3Dq into the unilateral substantia nigra (SN) in four marmosets. Using multi-tracer positron emission tomography imaging, we detected DREADD expression in vivo, which was confirmed in nigrostriatal dopamine neurons by immunohistochemistry, as well as by assessed activation of the SN following agonist administration. The marmosets rotated in a contralateral direction relative to the activated side 30-90 min after consuming food containing the highly potent DREADD agonist deschloroclozapine (DCZ) but not on the following days without DCZ. These results indicate that non-invasive and reversible DREADD manipulation will extend the utility of marmosets as a primate model for linking neuronal activity and natural behavior in various contexts.

10.
Trop Med Health ; 49(1): 28, 2021 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-33785051

RESUMO

BACKGROUND: Village health volunteers (VHVs) are responsible for providing primary care in the communities of Laos. Unlike other districts, in Xepon more than 90% of VHVs are male and therefore experience difficulties interacting with pregnant women. To improve outreach to pregnant women, especially among ethnic minorities, a new project was implemented by local municipalities in 2017: newly selected female VHVs were paired to work with existing male VHVs. The objective of this study was to compare the postnatal depressive symptoms of ethnic minority mothers supported by pair-VHVs and single-VHVs in remote rural areas of Lao People's Democratic Republic (PDR). METHODS: A cross-sectional study was conducted in March 2019. Mothers who had delivered a baby within 1 year preceding the study were recruited from 36 villages. Of the 305 mothers, 227 responded. The questionnaires included (1) demographic characteristics such as age, economic status, and birth experience; (2) self-decision to go to a health center/hospital to receive antenatal care; (3) type of VHVs (pair or single), support, and information from VHVs during pregnancy, support from husband and relationship with husband; (4) the Edinburgh Postnatal Depression Scale (EPDS). A Mann-Whitney U test, chi-square test, and multiple linear regression analysis were performed. Ethical approval was obtained from the University of the Ryukyus and National Ethics Committee for Health Research of Lao PDR. RESULTS: The average total EPDS score was 5.5 among mothers supported by pair-VHV and 7.0 among mothers supported by single-VHV. Results of the multiple linear regression analysis showed that the EPDS score was significantly lower among mothers supported by pair-VHV (ß=-1.18, p <0.05) even after adjusting for economic and biological factors. CONCLUSIONS: Mothers supported by pair-VHV had a significantly lower EPDS score than those supported by single-VHVs in this study area, suggesting that the support of male and female VHV pairs contributed to improving mental health status among ethnic minority mothers in remote rural areas of Lao PDR. Expanding the program to train female VHVs working with male VHVs is necessary for improving maternal and child health in a rural district of Lao PDR.

11.
Rinsho Shinkeigaku ; 60(8): 554-559, 2020 Aug 07.
Artigo em Japonês | MEDLINE | ID: mdl-32641626

RESUMO

A 42-year-old man with a history of two previous coronary embolisms was referred to our hospital. He had been experiencing muscle weakness since he was around 40 years old. He had muscle atrophy of the scapula, upper arm, and lower extremities, and electromyography revealed myogenic changes in the limb muscles. Histopathological analysis of the muscle biopsy specimen revealed a complete deficiency of emerin protein, and genetic examination revealed a mutation in the emerin (EMD) gene, resulting in a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is a muscular disorder with three symptoms: joint contracture at early onset, muscle weakness and atrophy, and cardiac dysfunction. Although this patient showed no obvious joint contracture, the course and clinical symptoms vary among patients. Therefore, in patients in whom clinical diagnosis is difficult, muscle biopsy and genetic testing should be performed for EDMD in order to prevent sudden death due to this disease.


Assuntos
Contratura , Articulações , Distrofia Muscular de Emery-Dreifuss/diagnóstico , Adulto , Contratura/patologia , Humanos , Articulações/patologia , Masculino , Proteínas de Membrana/genética , Debilidade Muscular/patologia , Músculo Esquelético/patologia , Atrofia Muscular/patologia , Distrofia Muscular de Emery-Dreifuss/genética , Distrofia Muscular de Emery-Dreifuss/patologia , Mutação , Proteínas Nucleares/genética
12.
Rinsho Shinkeigaku ; 60(8): 560-564, 2020 Aug 07.
Artigo em Japonês | MEDLINE | ID: mdl-32641628

RESUMO

A 66-year-old woman with small-cell lung cancer and cancer-associated retinopathy with anti-recoverin antibodies presented with subacute paraplegia associated with recurrence of lung cancer. Although a spinal cord MRI did not show any visible lesion, the neurological symptoms and cerebrospinal fluid findings indicated myelitis. Anti-CV2/CRMP5 antibodies were also positive and the patient was diagnosed with paraneoplastic myelopathy. After medication with prednisolone, her neurological symptoms improved and she survived over three years without recurrence of neurological symptoms. In general, paraneoplastic myelopathy is refractory against immunotherapy but in this case, immunotherapy was successful and resulted in long-term survival. We recommend examining anti-neuronal antibodies and choose and continue the appropriate immunotherapy.


Assuntos
Autoanticorpos , Hidrolases/imunologia , Neoplasias Pulmonares/imunologia , Proteínas Associadas aos Microtúbulos/imunologia , Síndromes Paraneoplásicas do Sistema Nervoso/imunologia , Carcinoma de Pequenas Células do Pulmão/imunologia , Feminino , Humanos , Imunoterapia , Neoplasias Pulmonares/terapia , Recidiva Local de Neoplasia , Síndromes Paraneoplásicas do Sistema Nervoso/etiologia , Síndromes Paraneoplásicas do Sistema Nervoso/terapia , Carcinoma de Pequenas Células do Pulmão/terapia
13.
Clin Neurol Neurosurg ; 196: 105960, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32593043

RESUMO

OBJECTIVES: The aim of the present study was to determine the relations of clinical symptoms with nigrostriatal neuron loss in drug-naïve patients with Parkinson's disease (PD). We examined the severity of motor symptoms and freezing of gait (FOG), falls and overactive bladder (OAB) in PD patients and their relations with striatal dopamine transporter (DAT) binding. PATIENTS AND METHODS: Thirty-two untreated PD patients (14 men and 18 women with a mean age of 71.4 ±â€¯7.2 years) were included in this study. Clinical assessments were performed by using Unified Parkinson's Disease Rating Scale (UPDRS) and overactive bladder symptom score (OABSS), and striatal dopamine transporter (DAT) binding was measured by123I-FP-CIT SPECT. RESULTS: The results showed that striatal DAT availability was significantly lower in the high UPDRS motor score group, high akinetic-rigid score group, FOG group, and OAB group than in the low UPDRS motor score group, low akinetic-rigid score group, non-FOG group, and non-OAB group. However, the results also showed that there was no significant difference in striatal DAT availability between the high tremor score group and low tremor score group or between the faller group and non-faller group. CONCLUSIONS: The severity of bradykinesia and axial symptoms and the existence of FOG and OAB in untreated PD patients are related to a decrease in striatal DAT availability. Severity of tremors and occurrence of falls are not related to a decrease in striatal DAT availability. The mechanisms underlying the clinical symptoms of PD involve not only dopaminergic pathways but also non-dopaminergic pathways.


Assuntos
Encéfalo/diagnóstico por imagem , Proteínas da Membrana Plasmática de Transporte de Dopamina/metabolismo , Doença de Parkinson/diagnóstico por imagem , Tremor/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Encéfalo/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/metabolismo , Índice de Gravidade de Doença , Avaliação de Sintomas , Tomografia Computadorizada de Emissão de Fóton Único , Tremor/metabolismo
14.
Clin Neurol Neurosurg ; 195: 105951, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32492588

RESUMO

OBJECTIVES: The aim of the present study was to determine the relationships of drooling with motor symptoms and nigrostriatal neuron loss in drug-naïve patients with Parkinson's disease (PD). We therefore examined the relationships of drooling with motor symptoms and striatal dopamine transporter (DAT) binding measured by [123-Iodine]-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenylnortropane) dopamine transporter single-photon emission computed tomography(123I-FP-CIT SPECT). PATIENTS AND METHODS: Thirty-five untreated PD patients (14 men and 21 women with a mean age of 71.9 ±â€¯7.2 years) were included in this study. The patients were divided into a drooler group and non-drooler group. They underwent clinical assessments and 123I-FP-CIT SPECT imaging. Motor symptoms were assessed using Unified Parkinson's Disease Rating Scale (UPDRS). RESULTS: The results showed that UPDRS motor score (p = 0.002) and akinetic-rigid score (p = 0.008) were higher and that striatal DAT availability (p = 0.03) was lower in the drooler group than in the non-drooler group. However, tremor score, age, and duration of PD showed no significant differences between the drooler group and non-drooler group. CONCLUSIONS: Drooling in untreated PD is related to an increase in motor symptoms (especially bradykinesia and axial symptoms) and to reduction of striatal DAT availability.


Assuntos
Corpo Estriado/diagnóstico por imagem , Proteínas da Membrana Plasmática de Transporte de Dopamina/metabolismo , Doença de Parkinson/complicações , Sialorreia/complicações , Idoso , Idoso de 80 Anos ou mais , Corpo Estriado/metabolismo , Corpo Estriado/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/metabolismo , Doença de Parkinson/patologia , Sialorreia/metabolismo , Sialorreia/patologia , Tomografia Computadorizada de Emissão de Fóton Único
15.
J Clin Pathol ; 73(12): 819-825, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32376712

RESUMO

AIMS: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder caused by germline mutations in fumarate hydratase (FH). Affected families have an increased risk of renal cell carcinoma (RCC). HLRCC-associated RCC (HLRCC-RCC) is highly aggressive. Clinicopathological information of genetically diagnosed patients with HLRCC-RCC contributes to the establishment of effective therapies. METHODS: Ten Japanese patients with HLRCC-RCC were enrolled in the study. Genetic testing for FH was carried out. Somatic mutations in FH and immunohistochemical analyses of FH and B7 family ligands (PD-L1 and B7-H3) were investigated in 13 tumours. Copy number variations were evaluated in two tumours. RESULTS: All patients had FH germline mutations. Regarding histology, most tumours had type 2 papillary architecture or tubulocystic pattern or both. All tumours were FH deficient by immunohistochemistry. Ten tumours were positive for PD-L1, and 12 tumours were positive for B7-H3. Somatic mutation analysis demonstrated loss of heterozygosity of FH in 10 tumours. Copy number variation analysis revealed uniparental disomy between 1q24.2 and 1q44 encompassing FH; gain of chromosome 2 p was also common. All patients had either metastases or residual tumours. Three patients died of HLRCC-RCC and one of colon cancer, whereas the other six are currently alive, including two without recurrence. CONCLUSIONS: HLRCC-RCCs appear to have unique molecular profiles, including PD-L1 expression. One patient had complete response to immunotherapy, which may be an option for HLRCC-RCC.


Assuntos
Leiomiomatose/genética , Leiomiomatose/patologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Adulto , Povo Asiático , Variações do Número de Cópias de DNA , Feminino , Fumarato Hidratase/genética , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade
16.
Neuroimage ; 205: 116278, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31614221

RESUMO

Preclinical applications of resting-state functional magnetic resonance imaging (rsfMRI) offer the possibility to non-invasively probe whole-brain network dynamics and to investigate the determinants of altered network signatures observed in human studies. Mouse rsfMRI has been increasingly adopted by numerous laboratories worldwide. Here we describe a multi-centre comparison of 17 mouse rsfMRI datasets via a common image processing and analysis pipeline. Despite prominent cross-laboratory differences in equipment and imaging procedures, we report the reproducible identification of several large-scale resting-state networks (RSN), including a mouse default-mode network, in the majority of datasets. A combination of factors was associated with enhanced reproducibility in functional connectivity parameter estimation, including animal handling procedures and equipment performance. RSN spatial specificity was enhanced in datasets acquired at higher field strength, with cryoprobes, in ventilated animals, and under medetomidine-isoflurane combination sedation. Our work describes a set of representative RSNs in the mouse brain and highlights key experimental parameters that can critically guide the design and analysis of future rodent rsfMRI investigations.


Assuntos
Encéfalo/fisiologia , Conectoma/métodos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Rede Nervosa/fisiologia , Animais , Encéfalo/diagnóstico por imagem , Conectoma/normas , Feminino , Processamento de Imagem Assistida por Computador/normas , Imageamento por Ressonância Magnética/normas , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Rede Nervosa/diagnóstico por imagem , Reprodutibilidade dos Testes
17.
Trop Med Health ; 47: 50, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31516363

RESUMO

BACKGROUND: Facility-based delivery has been promoted to improve maternal and child health care in Lao PDR and a free delivery policy was introduced at designated health care facilities (HCF) in 2013. However, according to birth records of HCFs in the impoverished and remote district, only a few women utilized the HCFs despite good physical accessibility. The aim of this study was to analyze the factors influencing the choice of facility-based delivery in the impoverished and remote district after a free delivery policy was introduced. METHODS: Qualitative case study was employed. Focus group discussions (FGDs) and in-depth interviews (IDIs) were conducted from August to October 2015. Five hamlets (or small village) located along the main road where only a few women delivered at HCFs were selected for the study based on birth records. The participants of the FGDs and IDIs were the village heads, village health volunteers, women who delivered at home or at a health facility within the past 2 years, their husbands, and mothers or mothers-in-law. Thematic analysis was used to analyze the data. RESULTS: A total of 12 FGDs and 27 IDIs were conducted, and the number of participants was 105. The factors influencing the choice of facility-based delivery were classified into nine categories and 19 subcategories. The categories were labeled, "perception of childbirth," "traditional health concept: sabaai (a condition of health, ease, and comfort)," "perception of health care facilities and staff," "previous pregnancy and childbirth experience," "mode of available transportation," "financial burden of childbirth at health care facility," "family and community context," "institutional context," and "government policy on delivery." CONCLUSION: Our study demonstrated that five major factors negatively influenced the choice of facility-based delivery: (1) perception of childbirth, (2) preference for sabaai, (3) financial burden, (4) family decision-making, and (5) institutional context. To promote facility-based delivery in the impoverished and remote district, three strategies are recommended: (1) promoting community-based health education involving women and strengthening community-based mutual support, (2) clarifying items essential for delivery at HCFs, and (3) making HCFs more comfortable in terms of "sabaai."

18.
BMC Pregnancy Childbirth ; 19(1): 333, 2019 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-31510943

RESUMO

BACKGROUND: The place of birth has been rapidly changing from home to health facility in Lao People's Democratic Republic (Lao PDR) following the strategy to improve the maternal and neonatal mortality. This change in the place of birth might affect the mother's satisfaction with childbirth. The objective of this study was to assess whether the place of birth is related to the mother's satisfaction with childbirth in a rural district of the Lao PDR. METHODS: A community-based survey was implemented in 21 randomly selected hamlets in Xepon district, Savannakhet province, between February and March, 2016. Questionnaire-based interviews were conducted with mothers who experienced a normal vaginal birth in the past 2 years. Satisfaction with childbirth was measured by the Satisfaction with Childbirth Experience Questionnaire. Using the median, the outcome variable was dichotomized into "high satisfaction group" and "low satisfaction group". Logistic regression was performed to assess the association between place of birth and satisfaction with childbirth. Three models were examined: In Model 1, only the predictor of interest (i.e., place of birth) was included. In Model 2, the predictor of interest and the obstetrical predictors were included. In Model 3, in addition to these predictors, socio-demographic and economic predictors were included. A mixed-effects model was used to account for the hierarchical structure. RESULTS: Among the 226 mothers who were included in data analysis, 60.2% gave birth at the health facility and the remaining 39.8% gave birth at home. Logistic regression analysis showed that the mothers who gave birth at the health facility were significantly more likely to have a higher level of satisfaction compared to the mothers who gave birth at home (crude odds ratio: 5.44, 95% confidence interval: 3.03 to 9.75). This association remained even after adjusting for other predictors (adjusted odds ratio: 6.05, 95% confidence interval: 2.81 to 13.03). CONCLUSION: Facility-based birth was significantly associated with a higher level of satisfaction with childbirth among the mothers in the study district where maternal and neonatal mortalities are relatively high. The findings of the present study support the promotion of facility-based birth in a rural district of the Lao PDR.


Assuntos
Entorno do Parto/estatística & dados numéricos , Centros de Assistência à Gravidez e ao Parto , Parto Domiciliar , Preferência do Paciente/estatística & dados numéricos , Gestantes/psicologia , Adulto , Centros de Assistência à Gravidez e ao Parto/normas , Centros de Assistência à Gravidez e ao Parto/estatística & dados numéricos , Feminino , Parto Domiciliar/psicologia , Parto Domiciliar/estatística & dados numéricos , Humanos , Trabalho de Parto/psicologia , Laos/epidemiologia , Mães/estatística & dados numéricos , Satisfação Pessoal , Gravidez , Resultado da Gravidez/epidemiologia , Garantia da Qualidade dos Cuidados de Saúde/métodos , Serviços de Saúde Rural/normas , Inquéritos e Questionários
19.
Neuroimage ; 195: 243-251, 2019 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-30953832

RESUMO

In autism spectrum disorder (ASD), disrupted functional and structural connectivity in the social brain has been suggested as the core biological mechanism underlying the social recognition deficits of this neurodevelopmental disorder. In this study, we aimed to identify genetic and neurostructural abnormalities at birth in a non-human primate model of ASD, the common marmoset with maternal exposure to valproic acid (VPA), which has been reported to display social recognition deficit in adulthood. Using a comprehensive gene expression analysis, we found that 20 genes were significantly downregulated in VPA-exposed neonates. Of these, Frizzled3 (FZD3) and PIK3CA were identified in an axon guidance signaling pathway. FZD3 is essential for the normal development of the anterior commissure (AC) and corpus callosum (CC); hence, we performed diffusion tensor magnetic resonance imaging with a 7-Tesla scanner to measure the midsagittal sizes of these structures. We found that the AC size in VPA-exposed neonates was significantly smaller than that in age-matched controls, while the CC size did not differ. These results suggest that downregulation of the genes related to axon guidance and decreased AC size in neonatal primates may be linked to social brain dysfunctions that can happen later in life.


Assuntos
Comissura Anterior/patologia , Transtorno do Espectro Autista/patologia , Orientação de Axônios/fisiologia , Animais , Animais Recém-Nascidos , Transtorno do Espectro Autista/induzido quimicamente , Transtorno do Espectro Autista/metabolismo , Orientação de Axônios/efeitos dos fármacos , Callithrix , Classe I de Fosfatidilinositol 3-Quinases/biossíntese , Modelos Animais de Doenças , Receptores Frizzled/biossíntese , GABAérgicos/toxicidade , Transcriptoma/efeitos dos fármacos , Ácido Valproico/toxicidade
20.
Front Neural Circuits ; 12: 110, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30574072

RESUMO

MRI observations following in vivo administration of Mn2+ [manganese (Mn)-enhanced MRI, MEMRI] have been used as an excellent morphological and functional MRI tool for in vivo preclinical studies. To detect brain three-dimensional (3D) microstructures, we improved the ex vivo MEMRI method for mouse brains after in vivo Mn administration and obtained high-resolution MRIs using a cryogenic radiofrequency (RF) coil. Male C57BL/6 mice (n = 8) were injected with 50 mM MnCl2 intravenously and MEMRIs of the brain were acquired in vivo after 24 h, followed by perfusion fixation with a 4% paraformaldehyde (PFA) solution. High-resolution 25-µm isotropic MRIs were successfully acquired from the extracted brain tissue and could identify the brain microstructures, especially in the hippocampus [the pyramidal cell layer through CA1-3 and the dentate gyrus (DG) granular layers (GLs)], cell layers of cerebellum, three sub-regions of the deep cerebellar nucleus, and white matter (WM) structures [e.g., the fasciculus retroflexus (fr) and optic tract in the thalamus]. The following technical conditions were also examined: (i) the longitudinal stability of Mn-enhanced ex vivo tissue after in vivo administration; and (ii) the effects of mixing glutaraldehyde (GA) with the fixative solution for the preservation of in vivo MEMRI contrast. Our results indicate that ex vivo MEMRI observations made shortly after fixation maintain the contrast observed in vivo. This research will be useful for non-destructive whole-brain pathological analysis.


Assuntos
Encéfalo/citologia , Encéfalo/diagnóstico por imagem , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Manganês , Neuroimagem/métodos , Animais , Imageamento Tridimensional/normas , Imageamento por Ressonância Magnética/normas , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Neuroimagem/normas
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