RESUMO
STXBP2, encoding syntaxin-binding protein 2, is involved in intracellular organelle trafficking and is associated with familial hemophagocytic lymphohistiocytosis type 5. Although STXBP2 mutations reportedly cause monogenic inflammatory bowel disease, the clinical course and underlying pathogenic mechanisms remain unclear. We identified a novel mutation in STXBP2 [c.1197delC, p.Ala400fs] in a boy with congenital intractable diarrhea and hemophagocytic lymphohistiocytosis (HLH). HLH was treated with intravenous prednisolone, cyclosporine, and dexamethasone palmitate. Hematopoietic stem cell transplantation (HSCT) along with prophylaxis for graft-versus-host-disease was performed at 5 months of age. Additionally, colonoscopies done before and after HSCT showed mild colitis with cryptitis. The patient showed elevated fecal calprotectin levels and persistent diarrhea even after HSCT and required partial parenteral nutrition. While anti-inflammatory treatment reduced diarrhea, it was not completely normalized even after HSCT, suggesting that the pathogenesis of inflammatory bowel disease associated with STXBP2 mutations involves both hyperinflammation and functional epithelial barrier defects.
Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Doenças Inflamatórias Intestinais , Linfo-Histiocitose Hemofagocítica , Humanos , Masculino , Diarreia , Doenças Inflamatórias Intestinais/genética , Doenças Inflamatórias Intestinais/terapia , Linfo-Histiocitose Hemofagocítica/genética , Linfo-Histiocitose Hemofagocítica/terapia , Proteínas Munc18/genética , MutaçãoRESUMO
BACKGROUND: Cutaneous squamous cell carcinoma (CSCC) is one of the most common skin cancers. Prognosis is favorable following surgical resection of early-stage disease, but the management of the metastatic disease is challenging. Several prognostic risk factors have been described in the American Joint Committee on Cancer/the Union for International Cancer Control (UICC) 8th edition staging and the Brigham and Women's Hospital T classification system. However, their clinical validity in Asian populations is unclear because of racial differences in the clinical characteristics of CSCC. This study aimed to identify factors that could predict lymph node metastasis in Asian patients. METHODS: This retrospective single-center study evaluated 540 patients with primary CSCC between 1989 and 2013. Five factors were evaluated for their ability to predict lymph node metastasis: maximum tumor diameter, tumor thickness, depth of invasion, degree of differentiation, and infiltrative growth pattern (INF). RESULTS: Tumor diameter > 2 cm (p < 0.0001), tumor thickness > 6 mm (p < 0.0001), invasion beyond the subcutaneous fat (p < 0.0001), poor differentiation (p = 0.042), and INFc infiltration (p < 0.0001) were associated with lymph node metastasis in the univariate analyses. In the multivariate analysis, lymph node metastasis was independently associated with tumor size > 2 cm [hazard ratio (HR) 2.9, 95% confidence interval (CI) 1.4-6.2; p = 0.006], tumor thickness > 6.0 mm (HR 2.9, 95% CI 1.3-6.4; p = 0.007), and invasion beyond the subcutaneous fat (HR 2.3, 95% CI 1.0-5.1; p = 0.045). CONCLUSION: Larger tumor diameter, greater tumor thickness, and deeper invasion included in the UICC T classification system are associated with increased risks of lymph node metastasis from CSCC in Japanese patients.
Assuntos
Carcinoma de Células Escamosas , Neoplasias Cutâneas , Carcinoma de Células Escamosas/patologia , Feminino , Humanos , Japão , Linfonodos/patologia , Metástase Linfática , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Neoplasias Cutâneas/patologiaRESUMO
Keratin-associated protein 8.1 (KAP8.1) is a hair protein whose structure, biochemical roles, and protein distribution patterns have not been well characterized. In this study, we generated a monoclonal antibody against human KAP8.1 to analyze the protein's roles and distribution in the human hair shaft. Using this antibody, we revealed that KAP8.1 was predominantly expressed in discrete regions of the keratinizing zone of the hair shaft cortex. The protein expression patterns paralleled the distribution of KAP8.1 mRNA and suggested that KAP8.1 plays a role associated with cells to control hair curvature. Cross-reactivity among species and epitope analysis indicated that the monoclonal antibody recognized a linear epitope shared among human, mouse, and sheep KAP8.1. The antibody failed to interact with sheep KAP8.1 in native conformation, suggesting that structural features of KAP8.1 vary among species.
Assuntos
Anticorpos Monoclonais/metabolismo , Proteínas do Citoesqueleto/química , Proteínas do Citoesqueleto/metabolismo , Animais , Anticorpos Monoclonais/imunologia , Western Blotting , Proteínas do Citoesqueleto/genética , Proteínas do Citoesqueleto/imunologia , Humanos , Imuno-Histoquímica , Hibridização In Situ , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Ovinos , Especificidade por Substrato , Ressonância de Plasmônio de SuperfícieRESUMO
BACKGROUND: Mycosis fungoides (MF) is the most common cutaneous T-cell lymphoma. Early-stage MF patches or plaques often resemble inflammatory skin disorders (ISDs), including psoriasis and atopic dermatitis. Cell adhesion molecule 1 gene (CADM1), which was initially identified as a tumor suppressor gene in human non-small cell lung cancer, has been reported as a diagnostic marker for adult T-cell leukemia/lymphoma. OBJECTIVE: We investigated CADM1 expression in MF neoplastic cells, especially during early stages, and evaluated its usefulness as a diagnostic marker for MF. METHODS: We conducted a retrospective study by using immunohistochemical staining and confirmed the expression of CADM1 in MF. In addition, we compared CADM1 messenger RNA expression in microdissected MF samples and ISD samples. RESULTS: In the overall study period, 55 of 58 MF samples (94.8 %) stained positive for CADM1. None of the 50 ISD samples showed positive reactivity (P < .0001). We found CADM1 messenger RNA expression in the intradermal lymphocytes of patients with MF but not in those of patients with an ISD. LIMITATIONS: We did not conduct a validation study for MF cases in other institutions. CONCLUSIONS: CADM1-positive cells can be identified in early stages with fewer infiltrating cells and may be useful as a diagnostic marker for early-stage MF.
Assuntos
Biomarcadores Tumorais/análise , Molécula 1 de Adesão Celular/análise , Micose Fungoide/química , Proteínas de Neoplasias/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Molécula 1 de Adesão Celular/biossíntese , Molécula 1 de Adesão Celular/genética , Dermatite/metabolismo , Diagnóstico Precoce , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Japão/epidemiologia , Linfócitos/metabolismo , Linfócitos/patologia , Pessoa de Meia-Idade , Micose Fungoide/diagnóstico , Micose Fungoide/genética , Micose Fungoide/patologia , Proteínas de Neoplasias/biossíntese , Proteínas de Neoplasias/genética , Estadiamento de Neoplasias , RNA Mensageiro/biossíntese , RNA Neoplásico/biossíntese , Estudos RetrospectivosRESUMO
Infancy associated eosinophilic pustular folliculitis (I-EPF) is a clinical variant of EPF that develops in childhood. Previous studies have suggested that I-EPF exhibits clinical and histological differences distinct from other variants, including classic EPF. Herein, we report two patients with I-EPF treated with topical indomethacin. These two cases exhibited less perifollicular and more perivascular eosinophilic infiltration, which is different in distribution from that of classic EPF. Immunohistochemical study demonstrated that the infiltrating mononuclear cells were CD4-dominant T cells in classic EPF and I-EPF, whereas the number of CD68-positive cells was significantly higher in classic EPF than in I-EPF. Immunohistochemical staining was also performed for eosinophilic pustular folliculitis (HPGDS), which has been reported to induce eosinophils and is a therapeutic target of indomethacin in classic EPF. HPGDS-positive cells were also observed in I-EPF, which may explain the effectiveness of topical indomethacin. Although clinical and histopathological features of I-EPF are different from other variants, the arachidonic acid pathway could be involved in eosinophil infiltration, not only in classic EPF but also in I-EPF.
Assuntos
Eosinofilia , Foliculite , Dermatopatias Vesiculobolhosas , Humanos , Indometacina/uso terapêutico , Eosinofilia/tratamento farmacológico , Eosinofilia/patologia , Foliculite/tratamento farmacológico , Foliculite/patologia , Dermatopatias Vesiculobolhosas/tratamento farmacológico , Dermatopatias Vesiculobolhosas/patologiaRESUMO
Brentuximab vedotin (BV), a conjugate of anti-CD30 antibody and monomethyl auristatin E, has emerged as a promising treatment option for refractory CD30+ mycosis fungoides (MF) and primary cutaneous anaplastic large-cell lymphoma (pcALCL). BV has been shown to be safe and effective in treating Hodgkin's lymphoma and peripheral T-cell lymphoma. This multicenter, prospective, single-arm phase I/II study evaluated the efficacy of BV in Japanese patients with CD30+ cutaneous lymphomas, namely CD30+ cutaneous T-cell lymphoma. Participants were divided into two groups: those with CD30+ MF or pcALCL (cohort 1, n = 13) and those with CD30+ lymphoproliferative disorders other than those in cohort 1 (cohort 2, n = 3). The studied population included the full analysis set (FAS), modified FAS (mFAS), and safety analysis set (SAF). These sets were identified in cohorts 1 and 1 + 2 and labeled FAS1 and FAS2, mFAS1 and mFAS2, and SAF1 and SAF2, respectively. Each treatment cycle lasted 3 weeks, and BV was continued for up to 16 cycles after the third cycle based on treatment response. The primary endpoint was the 4-month objective response rate (ORR4) determined by the Independent Review Forum (IRF). ORR4 was 69.2% for FAS1 and 62.5% for FAS2 (P < 0.0001). Secondary endpoints of ORR, assessed using the global response score (53.8% in FAS1) and modified severity-weighted assessment tool (62.5% in FAS1), using the IRF, provided results comparable to the primary findings. The incidence of ≥grade 3 adverse events (≥15%) in SAF1 was peripheral neuropathy in three patients (23%) and fever and eosinophilia in two patients (15%). In conclusion, BV showed favorable efficacy, tolerability, and safety profile in Japanese patients with relapsed or refractory CD30+ primary cutaneous T-cell lymphoma. The trial was registered with University Hospital Medical Information Network Clinical Trials Registry, Japan (protocol ID: UMIN000034205).
Assuntos
Brentuximab Vedotin , Antígeno Ki-1 , Neoplasias Cutâneas , Humanos , Brentuximab Vedotin/administração & dosagem , Brentuximab Vedotin/uso terapêutico , Masculino , Pessoa de Meia-Idade , Antígeno Ki-1/imunologia , Antígeno Ki-1/análise , Feminino , Idoso , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/imunologia , Estudos Prospectivos , Japão , Adulto , Idoso de 80 Anos ou mais , Micose Fungoide/tratamento farmacológico , Micose Fungoide/patologia , Micose Fungoide/imunologia , Linfoma Cutâneo de Células T/tratamento farmacológico , Linfoma Cutâneo de Células T/patologia , Antineoplásicos Imunológicos/uso terapêutico , Antineoplásicos Imunológicos/administração & dosagem , Antineoplásicos Imunológicos/efeitos adversos , Imunoconjugados/administração & dosagem , Imunoconjugados/uso terapêutico , Imunoconjugados/efeitos adversos , Resultado do Tratamento , População do Leste AsiáticoRESUMO
Generalized pustular psoriasis (GPP) is a rare, potentially life threatening, and aggressive form of psoriasis, which is characterized by sudden onset with repeated episodic skin inflammation leading to pustule formation. Familial GPP is known to be caused by recessively inherited mutations in the IL36RN gene, which encodes interleukin 36 receptor antagonist (IL-36Ra). In this article, we performed mutation analysis of the IL36RN gene in 14 Japanese patients with GPP, and identified mutations in two of these patients analyzed. One patient was compound heterozygous for mutations c.115+6T>C and c.368C>G (p.Thr123Arg), whereas the other carried compound heterozygous mutations c.28C>T (p.Arg10*) and c.115+6T>C in the IL36RN gene. Expression studies using total RNA from the patients' skin revealed that the mutation c.115+6T>C resulted in skipping of exon 3, leading to a frameshift and a premature termination codon (p.Arg10Argfs*1). The protein structure analysis suggested that the missense mutation p.Thr123Arg caused misfolding and instability of IL-36Ra protein. In vitro studies in cultured cells showed impaired expression of the p.Thr123Arg mutant IL-36Ra protein, which failed to antagonize the IL-36 signaling pathway. Our data further underscore the critical role of IL36RN in pathogenesis of GPP.
Assuntos
Interleucinas/genética , Mutação , Psoríase/genética , Pele/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Povo Asiático/genética , Sequência de Bases , Western Blotting , Análise Mutacional de DNA , Feminino , Mutação da Fase de Leitura , Células HEK293 , Células HeLa , Heterozigoto , Humanos , Imuno-Histoquímica , Interleucinas/metabolismo , Japão , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Psoríase/etnologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Pele/patologia , TransfecçãoRESUMO
Pure hair and nail ectodermal dysplasia (PHNED) is a rare genetic disorder characterized by hypotrichosis or complete alopecia, as well as nail dystrophy. Mutations in the type II hair keratin gene KRT85 and the HOXC13 gene on chromosome 12q have recently been identified in families with autosomal-recessive PHNED. In the present study, we have analyzed a consanguineous Syrian family with an affected girl having complete alopecia and nail dystrophy since birth. The family clearly showed linkage to chromosome 12q13.13-12q14.3, which excluded the KRT85 gene. Sequencing of another candidate gene HOXC13 within the linkage interval identified a homozygous frameshift mutation (c.355delC; p.Leu119Trpfs*20). Expression studies in cultured cells revealed that the mutant HOXC13 protein mislocalized within the cytoplasm, and failed to upregulate the promoter activities of its target genes. Our results strongly suggest crucial roles of the HOXC13 gene in the development of hair and nails in humans.
Assuntos
Displasia Ectodérmica/genética , Mutação da Fase de Leitura , Cabelo/patologia , Proteínas de Homeodomínio/genética , Homozigoto , Unhas/patologia , Alopecia , Sequência de Aminoácidos , Sequência de Bases , Consanguinidade , Displasia Ectodérmica/diagnóstico , Feminino , Proteínas de Homeodomínio/metabolismo , Humanos , Lactente , Linhagem , Fenótipo , Mapeamento Físico do Cromossomo , SíriaRESUMO
All TGF-beta family members have a prodomain that is important for secretion. Lack of secretion of a TGF-beta family member GDF5 is known to underlie some skeletal abnormalities, such as brachydactyly type C that is characterized by a huge and unexplained phenotypic variability. To search for potential phenotypic modifiers regulating secretion of GDF5, we compared cells overexpressing wild type (Wt) GDF5 and GDF5 with a novel mutation in the prodomain identified in a large Pakistani family with Brachydactyly type C and mild Grebe type chondrodyslplasia (c527T>C; p.Leu176Pro). Initial in vitro expression studies revealed that the p.Leu176Pro mutant (Mut) GDF5 was not secreted outside the cells. We subsequently showed that GDF5 was capable of forming a complex with latent transforming growth factor binding proteins, LTBP1 and LTBP2. Furthermore, secretion of LTBP1 and LTBP2 was severely impaired in cells expressing the Mut-GDF5 compared to Wt-GDF5. Finally, we demonstrated that secretion of Wt-GDF5 was inhibited by the Mut-GDF5, but only when LTBP (LTBP1 or LTBP2) was co-expressed. Based on these findings, we suggest a novel model, where the dosage of secretory co-factors or stabilizing proteins like LTBP1 and LTBP2 in the microenvironment may affect the extent of GDF5 secretion and thereby function as modifiers in phenotypes caused by GDF5 mutations.
Assuntos
Povo Asiático/genética , Braquidactilia/genética , Fator 5 de Diferenciação de Crescimento/genética , Anormalidades Musculoesqueléticas/genética , Mutação de Sentido Incorreto , Osteocondrodisplasias/genética , Sequência de Aminoácidos , Braquidactilia/fisiopatologia , Genótipo , Fator 5 de Diferenciação de Crescimento/metabolismo , Células HEK293 , Humanos , Imunoprecipitação , Proteínas de Ligação a TGF-beta Latente/genética , Proteínas de Ligação a TGF-beta Latente/metabolismo , Dados de Sequência Molecular , Anormalidades Musculoesqueléticas/metabolismo , Osteocondrodisplasias/metabolismo , Paquistão , Linhagem , Fenótipo , Conformação Proteica , Análise de Sequência de DNARESUMO
Immunosuppressive therapies can affect the immune response to or safety of vaccination in patients with inflammatory bowel disease (IBD). The appropriateness of vaccination should be assessed prior to the initiation of IBD treatment because patients with IBD frequently undergo continuous treatment with immunosuppressive drugs. This consensus was developed to support the decision-making process regarding appropriate vaccination for pediatric and adult patients with IBD and physicians by providing critical information according to the published literature and expert consensus about vaccine-preventable diseases (VPDs) [excluding cervical cancer and coronavirus disease 2019 (COVID-19)] in Japan. This consensus includes 19 important clinical questions (CQs) on the following 4 topics: VPDs (6 CQs), live attenuated vaccines (2 CQs), inactivated vaccines (6 CQs), and vaccination for pregnancy, childbirth, and breastfeeding (5 CQs). These topics and CQs were selected under unified consensus by the members of a committee on intractable diseases with support by a Health and Labour Sciences Research Grant. Physicians should provide necessary information on VPDs to their patients with IBD and carefully manage these patients' IBD if various risk factors for the development or worsening of VPDs are present. This consensus will facilitate informed and shared decision-making in daily IBD clinical practice.
Assuntos
COVID-19 , Doenças Inflamatórias Intestinais , Adulto , Gravidez , Feminino , Humanos , Criança , Consenso , Japão , Doenças Inflamatórias Intestinais/tratamento farmacológico , Vacinação/efeitos adversosRESUMO
BACKGROUND: H syndrome is a rare autosomal recessive genetic disorder which involves the skin and other systemic organs and is caused by mutations in the SLC29A3 gene. OBJECTIVES: To disclose the molecular basis of H syndrome in two Syrian families, and to determine the localization of hENT3 in human skin. METHODS: DNA from two Syrian families with H syndrome was analyzed through direct sequencing, and the expression of hENT3 in normal human skin was investigated by in situ hybridization and immunostaining. RESULTS: We identified two novel mutations in the SLC29A3 gene: a homozygous splice site mutation IVS1+2T>G predicted to cause a splicing error, and a homozygous missense mutation c.1157G>A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain of hENT3. Furthermore, we demonstrate that hENT3 is expressed in histiocytes as well as in endothelium of blood and lymphatic vessels in normal human skin. CONCLUSIONS: Our results further enhance the mutation spectrum of the SLC29A3 gene for this rare genetic disorder, and also suggest potential pathomechanisms for the skin lesions resulting from SLC29A3 mutations.
Assuntos
Contratura/genética , Perda Auditiva Neurossensorial/genética , Histiocitose/genética , Mutação , Proteínas de Transporte de Nucleosídeos/genética , Adolescente , Sequência de Aminoácidos , Sequência de Bases , Criança , Endotélio Vascular/metabolismo , Feminino , Histiócitos/metabolismo , Humanos , Vasos Linfáticos/metabolismo , Masculino , Dados de Sequência Molecular , Linhagem , Análise de Sequência de DNA , Síndrome , SíriaRESUMO
BACKGROUND/AIMS: Very early-onset inflammatory bowel disease (VEO-IBD), defined as IBD diagnosed in patients younger than 6 years, is a challenge for pediatric gastroenterologists. Although there have been reports regarding VEO-IBD in Western countries, those in Asia are still lacking. This study aimed to investigate the clinical features of Japanese VEO-IBD patients. METHODS: Patients with VEO-IBD diagnosed between 2006 and 2019 were evaluated retrospectively. The disease phenotypes were classified into ulcerative colitis type (UC-type) and Crohn's disease type (CD-type), and the clinical features and courses were compared between the phenotypes. RESULTS: Overall, 54 VEO-IBD patients (19 patients with UC-type and 35 patients with CD-type) were evaluated. The median age at onset was 18 months. One patient had severe combined immunodeficiency (SCID), and 9 patients had monogenic IBD. Monogenic IBD was more prevalent in the CD-type patients with perianal disease (CD-type (PD)). The age at onset was significantly lower in the CD-type group (P<0.05). The most common initial symptom was bloody stools (70%), followed by diarrhea (63%), weight loss (24%), fever (20%), and perianal disease (20%). Excluding patients with SCID and monogenic IBD, 23 out of 44 patients (52%) required biologics. The biologics were switched in 11 out of 44 patients (25%), and the majority of these patients (82%) were in the CD-type group. Overall, 9 patients (20%) required intestinal resection or ostomy placement. CONCLUSIONS: CD-type tends to occur at an earlier age, and monogenic IBD occurs significantly more frequently in CD-type (PD). Disease severity and treatment should be individualized, owing to the disease heterogeneity.
RESUMO
BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and hypodontia. The disease shows X-linked recessive, autosomal-dominant or autosomal-recessive inheritance trait. X-linked form of HED is caused by mutations in the EDA gene, while autosomal forms are caused by mutations in either EDAR or EDARADD genes. METHODS: We analyzed the DNA from a Japanese patient with HED through direct sequencing, and also performed functional studies for the mutation. RESULTS: We identified a homozygous missense mutation c.1073G>A (p.R358Q) in the EDAR gene of the patient, which was a nonconservative amino acid substitution within the death domain of EDAR protein. We demonstrated that the p.R358Q mutant EDAR protein lost its affinity to EDARADD, leading to reduced activation of the downstream NF-κB. CONCLUSION: Our data further suggest the crucial role of the EDAR signaling in development of hair, teeth, and sweat gland in humans.
Assuntos
Displasia Ectodérmica Anidrótica Tipo 1/genética , Receptor Edar/genética , Proteína de Domínio de Morte Associada a Edar/metabolismo , Mutação de Sentido Incorreto , Displasia Ectodérmica Anidrótica Tipo 1/metabolismo , Feminino , Humanos , Lactente , NF-kappa B/metabolismo , Análise de Sequência de DNA , Transdução de SinaisRESUMO
Botryomycosis is a rare chronic suppurative granulomatous infection caused by several genera of non-filamentous bacteria. The clinical and histopathological findings are similar to those of mycetoma caused by true fungi or aerobic actinomycetes. Botryomycosis is divided into cutaneous and visceral disease, with the cutaneous form being more common. Histopathology shows granules of etiologic bacteria called "sulfur granules". Botryomycosis occurs more commonly among immunocompromised patients, although some cases have also been reported in immunocompetent patients. We report the case of an 8-year-old immunocompetent boy who visited our hospital with a 4-mm diameter subcutaneous tumor with mild tenderness on his right heel for several months. We surgically removed the tumor with an initial diagnosis of epidermal cyst. Histopathology showed sulfur granules surrounded by an eosinophilic matrix, indicating the Splendore-Hoeppli phenomenon. The granules consisted of Gram-positive cocci, leading to a diagnosis of botryomycosis. The patient was successfully treated by excision and oral trimethoprim/sulfamethoxazole (240 mg b.i.d.) for 2 weeks as adjuvant therapy. No recurrence was noted following treatment. The subcutaneous tumor in this case was smaller than the typical in botryomycosis infections. We reviewed the infection duration and tumor size in reported cases of botryomycosis in immunocompetent patients. Small tumor size may suggest that the case is in an early stage; therefore, it is important to remove and investigate these lesions proactively.
Assuntos
Epiderme/microbiologia , Dermatoses do Pé/diagnóstico , Cocos Gram-Positivos/isolamento & purificação , Dermatopatias Bacterianas/diagnóstico , Administração Oral , Antibacterianos/administração & dosagem , Criança , Terapia Combinada/métodos , Procedimentos Cirúrgicos Dermatológicos , Diagnóstico Diferencial , Cisto Epidérmico/diagnóstico , Epiderme/diagnóstico por imagem , Epiderme/patologia , Dermatoses do Pé/microbiologia , Dermatoses do Pé/patologia , Dermatoses do Pé/terapia , Humanos , Masculino , Dermatopatias Bacterianas/microbiologia , Dermatopatias Bacterianas/patologia , Dermatopatias Bacterianas/terapia , Resultado do Tratamento , Combinação Trimetoprima e Sulfametoxazol/administração & dosagem , UltrassonografiaRESUMO
We report a case of a 59-year-old woman who was diagnosed with gastric and small intestinal anisakiasis, which was successfully treated with endoscopic extraction and Gastrografin therapy. She was admitted to our hospital with epigastric pain and vomiting one day after eating raw fish. She exhibited tenderness in the epigastrium without obvious rebound tenderness or guarding. Computed tomography (CT) demonstrated segmental edema of the intestinal wall with proximal dilatation and a small number of ascites. Because enteric anisakiasis was suspected based on the patient's history of recent raw fish consumption and abdominal CT, we performed gastroscopy and confirmed that nine Anisakis larvae were attached to the gastric mucosa. All of the Anisakis larvae were extracted via endoscopy, and the patient was diagnosed with gastric and enteric anisakiasis. Additionally, in the hospital, we performed ileography twice using Gastrografin, which led to shortened hospital stay. Based on the clinical results of this case, we suggest that Gastrografin therapy is a safe, convenient, and useful method to extract enteric Anisakis larvae.
Assuntos
Síndrome de Netherton/diagnóstico , Adulto , Alopecia/etiologia , Consanguinidade , Dermatite Esfoliativa/complicações , Dermatite Esfoliativa/diagnóstico , Folículo Piloso/fisiologia , Humanos , Masculino , Melanócitos/fisiologia , Síndrome de Netherton/complicações , Síndrome de Netherton/genética , Proteínas Secretadas Inibidoras de Proteinases/genética , Sítios de Splice de RNA/genética , Inibidor de Serinopeptidase do Tipo Kazal 5RESUMO
Tie-over bolster dressing after skin grafting can prolong operative time, and cause hematoma and seroma formation because of uneven pressure application. To describe the possibility of discontinuing the use of tie-over dressing, we carried out a retrospective comparative study of patients who underwent skin grafting at an institution between January 2009 and December 2014. We investigated and compared the take rate, healing period, wound infection rate and hematoma formation rate for the tie-over dressing group and the non-tie-over dressing group. Among 266 patients, 148 and 118 patients were included in the tie-over dressing group and non-tie-over dressing group, respectively. There were no significant differences between the take rate, healing period, wound infection rate and hematoma formation rate for the two groups. Multivariate analysis showed that the complete graft take rate was not significantly influenced by tie-over dressing, age, sex, graft site, graft procedure and skin graft diameter. Although the use of tie-over dressing might remain necessary on sites with a free margin, including the eyelids, lips or nostrils, because of the difficulty in using tape fixation, the present study showed that alternative dressing with polyurethane foam is also useful in most cases of skin grafting.