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1.
Pediatr Nephrol ; 38(8): 2873-2876, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36451038

RESUMO

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by thrombocytopenia and eczema and is caused by a mutation in the WAS gene. WAS has heterogeneous clinical manifestations, and its clinically milder form is called X-linked thrombocytopenia (XLT). Patients with WAS/XLT sometimes have kidney complications, the most common of which is immunoglobulin (Ig)A nephropathy associated with aberrant glycosylation of IgA. CASE DIAGNOSIS/TREATMENT: The patient was a 6-year-old girl who was diagnosed with female XLT at the age of 4 years; she presented with microscopic hematuria and proteinuria at a school urinalysis. Her father had thrombocytopenia and IgA nephropathy while in his 20 s. The patient and her father had the same WAS gene mutations. A kidney biopsy was performed, and no abnormal findings were observed by light microscopy. Immunofluorescence analysis revealed a granular pattern of IgG staining along the capillary wall. Electron microscopy revealed small electron-dense deposits in subepithelial lesions. Consequently, we diagnosed her with membranous nephropathy (MN). Tissue PLA2R and THSD7A were negative, and she was judged unlikely to have secondary MN on the basis of blood test findings and IgG staining. We started the administration of angiotensin-converting enzyme inhibitors, and her proteinuria gradually decreased. CONCLUSION: To our knowledge, this is the first report of MN in a female WAS/XLT patient. WAS protein expression defects affect all immune system cells; however, the mechanisms underlying the occurrence of autoimmunity are not completely understood. In WAS/XLT patients, MN may develop as a result of increased autoantibody production, similar to other types of immunodeficiency.


Assuntos
Glomerulonefrite por IGA , Glomerulonefrite Membranosa , Trombocitopenia , Síndrome de Wiskott-Aldrich , Humanos , Feminino , Pré-Escolar , Criança , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/diagnóstico , Glomerulonefrite Membranosa/genética , Síndrome de Wiskott-Aldrich/complicações , Síndrome de Wiskott-Aldrich/genética , Glomerulonefrite por IGA/complicações , Proteinúria/genética , Proteinúria/complicações , Imunoglobulina G
2.
Cancer Sci ; 113(4): 1338-1351, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35133060

RESUMO

Chemokines are a family of cytokines that mediate leukocyte trafficking and are involved in tumor cell migration, growth, and progression. Although there is emerging evidence that multiple chemokines are expressed in tumor tissues and that each chemokine induces receptor-mediated signaling, their collaboration to regulate tumor invasion and lymph node metastasis has not been fully elucidated. In this study, we examined the effect of CXCL12 on the CCR7-dependent signaling in MDA-MB-231 human breast cancer cells to determine the role of CXCL12 and CCR7 ligand chemokines in breast cancer metastasis to lymph nodes. CXCL12 enhanced the CCR7-dependent in vitro chemotaxis and cell invasion into collagen gels at suboptimal concentrations of CCL21. CXCL12 promoted CCR7 homodimer formation, ligand binding, CCR7 accumulation into membrane ruffles, and cell response at lower concentrations of CCL19. Immunohistochemistry of MDA-MB-231-derived xenograft tumors revealed that CXCL12 is primarily located in the pericellular matrix surrounding tumor cells, whereas the CCR7 ligand, CCL21, mainly associates with LYVE-1+ intratumoral and peritumoral lymphatic vessels. In the three-dimensional tumor invasion model with lymph networks, CXCL12 stimulation facilitates breast cancer cell migration to CCL21-reconstituted lymphatic networks. These results indicate that CXCL12/CXCR4 signaling promotes breast cancer cell migration and invasion toward CCR7 ligand-expressing intratumoral lymphatic vessels and supports CCR7 signaling associated with lymph node metastasis.


Assuntos
Neoplasias da Mama , Movimento Celular , Quimiocina CXCL12 , Vasos Linfáticos , Receptores CCR7 , Neoplasias da Mama/patologia , Linhagem Celular Tumoral , Quimiocina CCL21/metabolismo , Quimiocina CXCL12/metabolismo , Feminino , Humanos , Ligantes , Metástase Linfática , Vasos Linfáticos/patologia , Invasividade Neoplásica , Receptores CCR7/metabolismo , Receptores CXCR4
3.
Blood Purif ; 51(6): 492-502, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34515071

RESUMO

INTRODUCTION: Isolated ultrafiltration (IUF) is an alternative treatment for diuretic-resistant patients with fluid retention. Although hemodialysis (HD) predominantly decreases extracellular water (ECW), the impact of IUF on fluid distribution compared with HD remains unclear. METHODS: We compared the effect of HD (n = 22) and IUF (n = 10) sessions on the body fluid status using a bioimpedance analysis device (InBody S10). RESULTS: The total ultrafiltration volume was similar between HD and IUF (HD 2.5 ± 0.3 vs. ICF 2.1 ± 0.3 L/session, p = 0.196). The reduction rate of ECW was significantly higher than that of intracellular water (ICW) after HD (ECW -7.9% ± 0.8% vs. ICW -3.0% ± 0.9%, p < 0.001) and IUF (ECW -5.8% ± 0.9% vs. ICW -3.6% ± 0.8%, p = 0.048). However, the change in the ratio of ECW to total body water in HD was significantly larger than that in IUF (HD -3.2% ± 0.3% vs. ICF -1.1% ± 0.4%, p < 0.001). The reduction rates in serum tonicity (effective osmolality) were higher after HD than after IUF (HD -1.8% ± 0.5% vs. IUF -0.6% ± 0.2%, p = 0.052). Among the components of effective osmolality, the reduction rates of serum K+ and glucose levels after HD were significantly higher than those after IUF (serum K+: HD -30.5% ± 1.6% vs. IUF -0.5% ± 3.8%, p < 0.001; serum glucose: HD -15.4% ± 5.0% vs. IUF 0.7% ± 4.8%, p = 0.026), while the serum Na+ level was slightly and similarly reduced (HD -0.8% ± 0.4% vs. IUF -0.8% ± 0.4%, p = 0.500). The reduction in the osmolal gap value (measured osmolality-calculated osmolarity) was significantly greater after HD sessions than after IUF sessions (HD -12.4 ± 1.4 vs. IUF 2.0 ± 1.0 mOsm/kg, p = 0.001). CONCLUSION: The extracellular fluid reduction effect of HD is stronger than that of IUF. The different changes in effective osmolality and osmolal gap after HD and IUF sessions may be related to the different effects of HD and IUF on fluid distribution.


Assuntos
Diálise Renal , Ultrafiltração , Água Corporal , Impedância Elétrica , Líquido Extracelular , Glucose , Humanos , Água
4.
Pediatr Int ; 64(1): e14686, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33682248

RESUMO

BACKGROUND: Obesity is a risk factor for infectious diseases. However, the relationship between obesity and febrile urinary tract infection (fUTI) is controversial. This study aimed to determine the relationship between obesity and fUTI in young children. METHODS: We analyzed the medical records of children aged <2 years who were admitted to our hospital because of fever between April 2013 to March 2018. The children were categorized into three groups of non-obese, overweight, and obese according to the World Health Organization weight-for-length curves for children aged <2 years. RESULTS: A total of 600 patients were enrolled in this study, of whom 118 were diagnosed with first fUTI. Patients in the fUTI group were younger than those in the control group (patients who were diagnosed with other febrile diseases) (5 ± 5.11 vs 11 ± 6.53 months; P < 0.001). There were no significant differences in the populations of overweight and obese children between the fUTI and control groups. In the fUTI group, the duration of fever, types of pathogen, recurrent rate, the grades of vesicoureteral reflux, and renal scarring were not associated with obesity. The white blood cell count and C-reactive protein levels were not significantly different among the three weight-for-length categories. The same results were obtained when the fUTI group was compared with an age-matched control group (n = 192, 4 ± 2.55 months old; P = 0.261). CONCLUSIONS: Obesity is not a significant risk factor for fUTI in febrile hospitalized young children. Our study suggests that conducting urinalysis for febrile young children without obvious sources, irrespective of obesity, should be considered.


Assuntos
Obesidade Infantil , Infecções Urinárias , Refluxo Vesicoureteral , Criança , Humanos , Pré-Escolar , Lactente , Sobrepeso , Estudos Retrospectivos , Obesidade Infantil/complicações , Obesidade Infantil/epidemiologia , Infecções Urinárias/complicações , Infecções Urinárias/epidemiologia , Infecções Urinárias/diagnóstico , Fatores de Risco , Refluxo Vesicoureteral/complicações
5.
Sensors (Basel) ; 20(18)2020 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-32911729

RESUMO

Recently, pattern-recognition-based protein sensing has received considerable attention because it offers unique opportunities that complement more conventional antibody-based detection methods. Here, we report a multichannel pattern-recognition-based sensor using a set of fluorophore-conjugated single-stranded DNAs (ssDNAs), which can detect various proteins. Three different fluorophore-conjugated ssDNAs were placed into a single microplate well together with a target protein, and the generated optical response pattern that corresponds to each environment-sensitive fluorophore was read via multiple detection channels. Multivariate analysis of the resulting optical response patterns allowed an accurate detection of eight different proteases, indicating that fluorescence signal acquisition from a single compartment containing a mixture of ssDNAs is an effective strategy for the characterization of the target proteins. Additionally, the sensor could identify proteins, which are potential targets for disease diagnosis, in a protease and inhibitor mixture of different composition ratios. As our sensor benefits from simple construction and measurement procedures, and uses accessible materials, it offers a rapid and simple platform for the detection of proteins.


Assuntos
DNA de Cadeia Simples , Corantes Fluorescentes , Fluorescência , Proteínas
6.
Nephrology (Carlton) ; 24(9): 904-911, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30578654

RESUMO

AIM: Sodium-glucose cotransporter 2 (SGLT2) inhibitors are an antihyperglycemic drug with diuretic properties. We recently reported that an SGLT2 inhibitor ameliorated extracellular fluid expansion with a transient increase in urinary Na+ excretion. However, the effects of SGLT2 inhibitors on fluid distribution in comparison to conventional diuretics remain unclear. METHODS: Forty chronic kidney disease patients with fluid retention (average estimated glomerular filtration rate 29.2 ± 3.2 mL/min per 1.73 m2 ) were divided into the SGLT2 inhibitor dapagliflozin (DAPA), loop diuretic furosemide (FR) and vasopressin V2 receptor antagonist tolvaptan (TLV). The body fluid volume was measured on days 0 and 7 using a bioimpedance analysis device. RESULTS: In all three groups, body weight was significantly and similarly decreased, and urine volume numerically increased for 7 days. Bioimpedance analysis showed that the changes in intracellular water were similar, but that there were significant changes in the extracellular water (ECW) (DAPA -8.4 ± 1.7, FR -12.5 ± 1.3, TLV -7.4 ± 1.5%, P = 0.048). As a result, the change in the ratio of ECW to total body water in the DAPA group was significantly smaller than that in the FR group, but numerically larger than that in the TLV group (DAPA -1.5 ± 0.5, FR -3.6 ± 0.5, TLV -0.5 ± 0.4%, P < 0.001). CONCLUSION: Sodium-glucose cotransporter 2 inhibitor DAPA predominantly decreased the ECW with a mild increase in urine volume, but the change in the ECW/total body water was smaller than that in patients treated with FR, and larger than that in patients treated with TLV, suggesting that the effects of SGLT2 inhibitors on fluid distribution may differ from those of conventional diuretics.


Assuntos
Antagonistas dos Receptores de Hormônios Antidiuréticos/uso terapêutico , Compostos Benzidrílicos/uso terapêutico , Deslocamentos de Líquidos Corporais/efeitos dos fármacos , Furosemida/uso terapêutico , Glucosídeos/uso terapêutico , Insuficiência Renal Crônica/tratamento farmacológico , Inibidores de Simportadores de Cloreto de Sódio e Potássio/uso terapêutico , Inibidores do Transportador 2 de Sódio-Glicose/uso terapêutico , Tolvaptan/uso terapêutico , Equilíbrio Hidroeletrolítico/efeitos dos fármacos , Desequilíbrio Hidroeletrolítico/tratamento farmacológico , Idoso , Composição Corporal/efeitos dos fármacos , Feminino , Humanos , Masculino , Estudos Prospectivos , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Desequilíbrio Hidroeletrolítico/diagnóstico , Desequilíbrio Hidroeletrolítico/fisiopatologia
7.
J Fluoresc ; 27(4): 1449-1456, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28391541

RESUMO

A chemical sensor for cysteine (Cys) was fabricated based on a fluorescent oligo(p-phenylene ethynylene)s (OPEs) and OPE-graphene oxide (GO) composite. OPE with cyanoacrylate terminal groups were synthesized by a Pd-catalyzed Sonogashira coupling reaction and Knoevenagel condensation for use as a chemical sensor for Cys. The optical properties and Cys sensing capability of the cyanoacrylate modified OPE and OPE-GO composite were investigated. In addition of Cys, the fluorescence of OPE was blue-shifted and decreased (fluorescence turn-off), while the fluorescence of the OPE-GO composite was enhanced (fluorescence turn-on). Thus, OPE with cyanoacrylate terminal groups and OPE-GO composite acts a highly sensitive fluorescent chemical sensor for Cys.

8.
Pediatr Nephrol ; 29(7): 1181-7, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24500706

RESUMO

BACKGROUND: Calcineurin inhibitors (CIs) with/without intravenous methylprednisolone pulse therapy (MPT) constitute the standard treatment for childhood-onset, steroid-resistant nephrotic syndrome (SRNS). However, some patients fail to achieve remission. We treated SRNS patients resistant to CIs and MPT with additional rituximab combined with MPT and immunosuppressive agents. METHODS: Ten patients (aged 2-14 years) with CI- and MPT-resistant SRNS were enrolled. Patients were administered rituximab (1-4 doses; 375 mg/m(2)) followed by MPT (30 mg/kg/day of methylprednisolone for 3 consecutive days) once every 2-4 weeks until complete remission (CR). We analyzed clinical outcome and safety. RESULTS: Six patients received a single dose of rituximab, 2 received two doses, and 2 received four doses. Seven patients achieved CR, 1 achieved partial remission, and 2 showed no response. Although 2 patients with no response progressed to end-stage renal failure, 7 patients with CR preserved normal renal function without proteinuria at the last observation. There were two serious adverse events. CONCLUSIONS: Additional rituximab combined with conventional MPT and immunosuppressive agents is a promising option for overcoming refractory SRNS. Aggressive B cell suppression by rituximab may ameliorate resistance to conventional treatments and a cocktail of other immunosuppressive agents, such as CIs, MMF, mizoribine, may be beneficial. However, as intense immunosuppression may cause serious adverse events, further evaluation is necessary.


Assuntos
Anticorpos Monoclonais Murinos/administração & dosagem , Imunossupressores/administração & dosagem , Metilprednisolona/administração & dosagem , Síndrome Nefrótica/tratamento farmacológico , Adolescente , Anticorpos Monoclonais Murinos/efeitos adversos , Criança , Pré-Escolar , Resistência a Medicamentos , Quimioterapia Combinada , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Metilprednisolona/efeitos adversos , Prognóstico , Rituximab
9.
Clin Exp Nephrol ; 18(5): 690-6, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24185404

RESUMO

BACKGROUND: We investigated the medication-prescribing patterns of primary care physicians in chronic kidney disease (CKD). SUBJECTS AND METHODS: This cross-sectional study included 3,310 medical doctors who graduated from Jichi Medical University. The study instrument was a self-administered questionnaire to investigate their age group, specialty, workplace, existence of a dialysis center at workplace, and their prescription frequencies (high, moderate, low, very low) of the following agents--calcium (Ca) inhibitors, angiotensin-converting enzyme inhibitors (ACEIs), angiotensin II receptor antagonist (ARBs), statins, anti-platelet agents, erythropoietin (Epo), AST-120, vitamin D, and sodium hydrogen carbonate (NaHCO(3)). RESULTS: From a total of 933 responses, 547 (61.0 %) medical doctors prescribed medication for CKD. The prescription frequencies of Ca inhibitors, ACEIs, and ARBs were high (>90 %, high + moderate), those of statins, anti-platelet agents, Epo, and AST-120 were moderate (90-50 %, high + moderate), and those of vitamin D and NaHCO(3) were low (<50 %, high + moderate). The primary care physician's specialty was significantly associated with their prescription frequency of Ca inhibitors (p < 0.01). Their workplace was significantly associated with their prescription frequency of ACEIs (p < 0.01), ARBs (p < 0.01), Epo (p < 0.01) and vitamin D (p < 0.01). The existence of a dialysis center at their workplace was significantly associated with their prescription frequency of Epo (p < 0.01), vitamin D (p < 0.01) and NaHCO(3) (p < 0.01). Their age was not associated with their prescription frequency of any agents. CONCLUSION: Antihypertensives were highly prescribed, and vitamin D and NaHCO(3) were less prescribed by primary care physicians for CKD. There were certain associations between the prescribing patterns of primary care physicians for CKD and their specialty, workplace and the existence of a dialysis center at their workplace.


Assuntos
Padrões de Prática Médica/estatística & dados numéricos , Atenção Primária à Saúde/estatística & dados numéricos , Insuficiência Renal Crônica/tratamento farmacológico , Adulto , Estudos Transversais , Humanos , Pessoa de Meia-Idade , Adulto Jovem
10.
BMC Nephrol ; 15: 48, 2014 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-24641626

RESUMO

BACKGROUND: The appropriate exercise counseling for chronic kidney disease (CKD) patients is crucial to improve their prognosis. There have been few studies about exercise counseling by primary care physicians for CKD patients. We investigated primary care physicians' exercise counseling practices for CKD patients, and the association of these physicians' own exercise habits with exercise counseling. METHODS: The population of this cross-sectional study was 3310 medical doctors who graduated from Jichi Medical University from 1978 to 2012. The study instrument was a self-administered questionnaire that was mailed in August 2012 to investigate their age class, specialty, workplace, exercise habits, and practices of exercise counseling for CKD. RESULTS: 581 (64.8%) medical doctors practiced the management of CKD among a total of 933 responses. These 581 medical doctors were defined as CKD primary care physicians and their answers were analyzed. CKD primary care physicians' own exercise habits (frequencies and intensities) were as follows: frequencies: daily, 71 (12.1%); ≥ 2-3 times/week, 154 (26.5%); ≥ 1 time/week, 146 (25.1%); and ≤ 1 time/month, 176 (30.2%); intensities: high (≥ 6 Mets), 175 (30.1%); moderate (4-6 Mets), 132 (22.7%); mild (3-4 Mets), 188 (32.3%); very mild (<3 Mets), 47 (8.1%); and none, 37 (6.4%). The CKD primary care physicians' exercise recommendation levels for CKD patients were as follows: high, 31 (5.3%); moderate, 176 (29.7%); low, 256 (44.0%); and none, 92 (15.8%). The CKD primary care physicians' exercise recommendations for CKD patients were significantly related to their own exercise frequency (p < 0.001), but they were not related to their age, specialty, workplace, or exercise intensity. CONCLUSIONS: CKD primary care physicians' exercise recommendation level for CKD patients was limited. In addition, CKD primary care physicians' own exercise habits influenced the exercise counseling for CKD patients. The establishment of guidelines for exercise by CKD patients and their dissemination among primary care physicians are needed.(University Hospital Medical Information Network Clinical Trial Registry. number, UMIN000011803. Registration date, Sep/19/2013).


Assuntos
Atitude do Pessoal de Saúde , Aconselhamento Diretivo/estatística & dados numéricos , Terapia por Exercício/estatística & dados numéricos , Condicionamento Físico Humano/estatística & dados numéricos , Médicos de Atenção Primária/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Insuficiência Renal Crônica/reabilitação , Adulto , Idoso , Estudos Transversais , Terapia por Exercício/psicologia , Feminino , Hábitos , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Relações Médico-Paciente , Médicos de Atenção Primária/psicologia , Insuficiência Renal Crônica/psicologia
11.
Pediatr Rep ; 16(2): 399-409, 2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38804377

RESUMO

BACKGROUND: The emergence of the Omicron strain of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) at the end of December 2021 has drastically increased the number of infected children in Japan, along with the number of children with febrile convulsions, but its clinical impact is unclear. MATERIALS AND METHODS: We compared the frequency of SARS-CoV-2 infection in children hospitalized with febrile convulsions with the frequency of SARS-CoV-2 infection in children with fever and respiratory symptoms without convulsions. RESULTS: In 2021 and 2022, 49 and 58 children required emergency hospitalization for febrile convulsions (FC group) with status epilepticus or cluster spasms, in which 24 and 38 children underwent a Filmarray® respiratory panel test (FA test), respectively, and others received a quantitative antigen test for SARS-CoV-2. In 2022, only six patients tested positive for SARS-CoV-2 (10.3%, 6/58). As a reference group, 655 children aged <10 years who underwent the FA test for fever and respiratory symptoms during the same period were investigated, and 4 (1.8%, 4/223) and 42 (9.7%, 42/432) tested positive for SARS-CoV-2 in 2021 and 2022, respectively. Rhinovirus/enterovirus (RV/EV) was the most frequently detected virus (40.3%, 264/655), followed by respiratory syncytial virus (RSV) (18.9%, 124/655) and parainfluenza virus 3 (PIV3) (7.8%, 51/655). There was no significant difference in the trend of detected viruses between the two groups. CONCLUSIONS: The frequency and severity of febrile convulsions requiring hospitalization associated with SARS-CoV-2 infection of the Omicron strain may be similar to that of other respiratory viruses in children.

12.
J Neurol Neurosurg Psychiatry ; 84(9): 982-8, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23572247

RESUMO

OBJECTIVE: To characterise the natural history of Ullrich congenital muscular dystrophy (UCMD). PATIENTS AND METHODS: Questionnaire-based nationwide survey to all 5442 certified paediatric and adult neurologists in Japan was conducted from October 2010 to February 2011. We enrolled the 33 patients (age at assessment, 11 ± 6.6 years) who were reported to have collagen VI deficiency on immunohistochemistry in muscle biopsies. We analysed the development, clinical manifestations, Cobb angle and %vital capacity (%VC) in spirogram. RESULTS: Cobb angle over 30° was noted at age 9.9 ± 5.3 years (n=17). The maximum progression rate was 16.2 ± 10°/year (n=13). %VC was decreased exponentially with age, resulting in severe respiratory dysfunction before pubescence. Scoliosis surgery was performed in 3 patients at ages 5 years, 9 years and 10 years. Postoperative %VC was relatively well maintained in the youngest patient. Non-invasive ventilation was initiated at age 11.2 ± 3.6 years (n=13). Twenty-five (81%) of 31 patients walked independently by age 1.7 ± 0.5 years but lost this ability by age 8.8 ± 2.9 years (n=11). Six patients never walked independently. CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised. Although the age of onset varied, scoliosis, as well as restrictive respiratory dysfunction, progressed rapidly within years, once they appeared.


Assuntos
Distrofias Musculares/patologia , Doenças Respiratórias/patologia , Esclerose/patologia , Escoliose/patologia , Adolescente , Adulto , Idade de Início , Biópsia , Criança , Pré-Escolar , Colágeno/genética , DNA/genética , Progressão da Doença , Feminino , Humanos , Imuno-Histoquímica , Lactente , Japão/epidemiologia , Estimativa de Kaplan-Meier , Masculino , Músculo Esquelético/patologia , Distrofias Musculares/epidemiologia , Distrofias Musculares/genética , Pescoço , Postura , Doenças Respiratórias/genética , Esclerose/epidemiologia , Esclerose/genética , Escoliose/genética , Escoliose/cirurgia , Análise de Sobrevida , Resultado do Tratamento , Capacidade Vital , Adulto Jovem
13.
Endocr J ; 60(3): 299-304, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23197115

RESUMO

Pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by neonatal salt loss with elevated plasma aldosterone and renin levels. Two types of PHA1 have been described: an autosomal recessive systemic form and an autosomal dominant renal form, in which the target organ defect is confined to the renal tubules. The dominant renal form of PHA1 is caused by heterozygous mutations in the NR3C2 gene, which encodes the mineralocorticoid receptor (MR). We determined clinical and biochemical parameters in two familial and four sporadic Japanese patient and analyzed the status of the NR3C2 gene. Failure to thrive was noted in five of the six patients. In one of the familial cases, the mother had an episode of failure to thrive when she was a toddler, but received no medical treatment. NaCl supplementation was discontinued in four of the six patients after they reached one year of age and they have grown normally thereafter. However, in one patient, 9 g/day of salt has been required to maintain serum Na concentration after 1 year of age. Analysis of NR3C2 identified three novel mutations [c. C1951T (p.R651X), c.304_305delGC (p.A102fsX103), c.del 603A (p.T201fsX34)] and one previously reported mutation [c.A2839G (p.947X)]. p.R651X was identified in one familial case and one unrelated sporadic patient. The patient who has been supplemented with large amount of salt was heterozygous for c.del 603A in exon 2. In conclusion, our study expands the spectrum of phenotypes, and characterized mutations of NR3C2 in the renal form of PHA1.


Assuntos
Túbulos Renais/fisiopatologia , Pseudo-Hipoaldosteronismo/genética , Pseudo-Hipoaldosteronismo/fisiopatologia , Aldosterona/sangue , Insuficiência de Crescimento/genética , Feminino , Heterozigoto , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Mutação , Fenótipo , Pseudo-Hipoaldosteronismo/terapia , Receptores de Mineralocorticoides/genética , Renina/sangue , Cloreto de Sódio/administração & dosagem
14.
Int J Nurs Pract ; 19 Suppl 2: 50-8, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23617449

RESUMO

This study investigated nursing practice in continuing nursing care with the aim of identifying the key factors in nursing practice during discharge support. A literature review of papers published in Japanese in 2000 and 2011 was conducted using 'case management', 'care management', 'continuing nursing care', 'discharge support', 'discharge planning' and 'elderly person' as key words. An analysis of 54 papers revealed the following five aspects of continuing nursing care: (i) a cyclical approach aimed at realising the lifestyle desired by the person concerned; (ii) management of medical conditions for lifestyle stability; (iii) support for the patient as someone who can live independently; (iv) support to raise the ability of families to care for themselves; and (v) team approach to achieve implementation of patient-centred care. Understanding these aspects allows nurses to recreate the lifestyle of patients and families and facilitate the implementation of a systematic team approach.


Assuntos
Continuidade da Assistência ao Paciente , Serviços de Assistência Domiciliar , Hospitais , Alta do Paciente , Transferência de Pacientes , Idoso , Humanos , Japão , Processo de Enfermagem
15.
Nihon Jinzo Gakkai Shi ; 55(5): 947-55, 2013.
Artigo em Japonês | MEDLINE | ID: mdl-23980480

RESUMO

Rituximab, an anti-CD2O monoclonal antibody, is an emerging and effective option for the treatment of patients with refractory steroid-dependent nephrotic syndrome (SDNS), but few studies have assessed the long-term prognosis in these patients. We therefore evaluated the efficacy of rituximab in 35 patients, aged 4-21 years, who experienced SDNS while being treated with immunosuppressants. Patients were monitored for 24-63 months. After the first infusion of rituximab, the number of relapses and the dose of prednisolone were significantly reduced, and the steroid withdrawal period was significantly increased. However, 22 patients (63%) required retreatment with rituximab owing to relapses. At the last observation, only three patients (9%) could discontinue immunosuppressants completely and only three continued to show remission during the observation period. Although rituximab could not induce a complete cure of refractory SDNS, it resulted in longer remission times when immunosuppressants were continued after rituximab therapy, indicating the effectiveness of rituximab followed by immunosuppressants. We also found that patients who experienced more relapses before rituximab therapy were more likely to relapse earlier after rituximab therapy.


Assuntos
Anticorpos Monoclonais Murinos/uso terapêutico , Imunossupressores/uso terapêutico , Síndrome Nefrótica/tratamento farmacológico , Esteroides/efeitos adversos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Estudos Longitudinais , Masculino , Síndrome Nefrótica/induzido quimicamente , Prognóstico , Rituximab , Prevenção Secundária
17.
CEN Case Rep ; 11(3): 376-379, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35118635

RESUMO

There has been growing interest in reported cases of IgA nephropathy (IgAN) flare-up following administration of the coronavirus disease 2019 (COVID-19) vaccine. Our patient is a previously healthy 17-year-old girl who presented with a 10-year history of microscopic hematuria. Because there were no abnormal findings in blood examination or ultrasonography, we followed her up twice per year as asymptomatic hematuria. Although she never developed gross hematuria when she had upper respiratory infections or received an influenza vaccine, she presented with gross hematuria and proteinuria within a few days after receiving the first dose of the Pfizer vaccine. We performed renal biopsy 2 weeks after the first vaccination. It revealed minor glomerular abnormalities with diffuse mesangial IgA deposits, and we diagnosed her with mild IgAN. Gross hematuria was detected after both the first and second doses, although it changed to microscopic hematuria within 1 week. Additionally, her proteinuria resolved spontaneously approximately 10 days after the second dose of the vaccine. Therefore, we opted to observe her without administering medication. The causation between COVID-19 vaccination and IgAN flare-up remains unclear. Several reports showed IgAN patients presenting gross hematuria following the second dose of the Pfizer or Moderna vaccines. However, our patient developed gross hematuria and proteinuria even after the first dose and without known severe acute respiratory syndrome coronavirus 2 exposure. Nephrologists should inform both patients with IgAN and those with asymptomatic hematuria that this side effect can occur even after the first vaccination.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Glomerulonefrite por IGA , Adolescente , Vacinas contra COVID-19/efeitos adversos , Feminino , Glomerulonefrite por IGA/induzido quimicamente , Glomerulonefrite por IGA/diagnóstico , Hematúria/complicações , Humanos , Proteinúria/complicações
18.
Nihon Koshu Eisei Zasshi ; 58(9): 778-92, 2011 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-22171498

RESUMO

OBJECTIVES: In recent years, accompanying the increased diversification and growing seriousness of public health concerns, the duties demanded of nurses have been expanding and becoming more sophisticated. The objective of this research project was to assess a study achievement creation program to enhance the competence of public health nurses, etc., carried out in the curriculum for the first half of a graduate school doctorate course. METHODS: The program was developed undergoing a process of two test trials and corrections. The program's concept was "what I learn will contribute to tomorrow," and the program was composed of five group sessions during a four-month period and four individual interviews conducted between the group sessions. During this period, the participants clearly defined the problems seen in the field and their own themes of study to resolve them, and then worked toward attainment of achievement targets that they themselves had selected. The researchers, acting as study supporters, assisted to maximize the participants' study achievements. The targeted students were eight public health nurses who were enrolled in the program for the three semesters from October 2008 to March 2010, and included four graduate students and four others registered to complete the course. The program's outcome was assessed by measuring competence before and after program implementation, and process evaluation was conducted by ascertaining whether the participants had passed through three essential stages in their study: 1) awareness of the actual conditions and of the problems concerned; 2) implementation of an improvement plan; 3) confirmation of improvements. RESULTS: As a result of implementing the program, a certain degree of success, as indicated below, was verified. In the before-and-after outcome assessment, participant A exhibited a significant degree of advancement. Furthermore, the degree of satisfaction scores of the participants after program implementation were sufficiently high to conclude that results worthy of the costs expended were obtained. In addition, it was ascertained that the essential stages of passage, as indicated in the methodology, featured in the study process of the participants. CONCLUSION: In the future, this program may find application in graduate school education and for active service public health nurses by municipal governments or companies working in cooperation with universities and associations for public health nurses. Hereafter, areas that must be tackled in order to enrich the program include establishment of study support methods in response to diverse circumstances, development of educational materials and qualitative evaluation indicators and establishment of systems to train study supporters.


Assuntos
Educação de Pós-Graduação em Enfermagem , Avaliação Educacional , Competência Profissional , Enfermagem em Saúde Pública/educação , Adulto , Currículo , Feminino , Pesquisa sobre Serviços de Saúde , Humanos , Japão , Masculino , Pessoa de Meia-Idade
19.
Int J Nurs Sci ; 8(1): 79-86, 2021 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-33575449

RESUMO

OBJECTIVES: The aim of this study was to explore factors that motivate students to engage in skills practice in a laboratory setting, and to identify their motivation types and the regulatory styles. METHODS: Semi-structured interviews were conducted with 23 nursing students from three universities between November 2017 and January 2018. A thematic analysis was used to identify factors associated with students' motivation to engage in skills practice in a laboratory. The types and the regulatory styles of student motivation were identified based on the self-determination theory. RESULTS: Seven motivating factors were identified. These factors included the students' desire "to acquire the skills necessary to work as a nurse", the "desire to improve skills in preparation for clinical practicum", and their felt "obligations to patients as a nurse". Moreover, "the impetus to study arising from the objective evaluation of oneself and others" and "wanting to pass the skills examination" motivated the students to engage in skills practice. A "learning environment that facilitates students' learning" and the "supportive involvement of educators" facilitated their learning. Based on the self-determination theory, the students were found to embrace extrinsic motivation with four regulatory styles of motivation, namely integrated, identified, introjected, and external regulation. CONCLUSIONS: Nurse educators should understand the motivating factors of students, and help students embrace a more internally controlled motivation by helping them envision their future careers as nurses, and by fostering their ethical duty to care for patients.

20.
Kidney360 ; 2(3): 487-493, 2021 03 25.
Artigo em Inglês | MEDLINE | ID: mdl-35369027

RESUMO

Background: The prognosis of steroid-resistant nephrotic syndrome (SRNS) in children is poorer than steroid-sensitive cases. Diagnosis of SRNS is made after observing the response to the initial 4-week corticosteroid therapy, which might be accompanied by side effects. However, predictive indicators at initial diagnosis remain unknown. We aimed to investigate whether selectivity index (SI) and other indicators at initial diagnosis-for example, serum IgM and total serum protein-albumin ratio (TA ratio, total serum protein level over albumin level)-can predict SRNS. Methods: A total of 80 children were enrolled from seven hospitals in Japan between January 2008 and December 2019 (mean age, 4.7 years; 65% male). Of the children enrolled, 13 (16%, M/F=5:8) had been diagnosed as steroid resistant after initial treatment with steroids. The association between serum IgM (tertile categories: low, 24-133; middle, 134-169; and high, 169.1-510 mg/dl), SI (<0.2 or ≥0.2), and TA ratio (tertile categories: low, 1.8-2.6; middle, 2.62-3.75; and high, 3.8-15.3) at initial diagnosis and steroid resistance was evaluated with logistic regression, adjusting for age and sex. Results: Low levels of serum IgM were significantly associated with steroid resistance (adjusted odds ratio, 6.94; 95% CI, 1.12 to 43.11). TA ratio and SI were not significantly associated with steroid resistance. Conclusions: Low levels of serum IgM at initial diagnosis might predict steroid resistance among Japanese children with idiopathic nephrotic syndrome.


Assuntos
Síndrome Nefrótica , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulina M/uso terapêutico , Japão/epidemiologia , Masculino , Síndrome Nefrótica/diagnóstico , Estudos Retrospectivos , Esteroides/uso terapêutico
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