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1.
Obstet Gynecol Int ; 2021: 6624404, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34349802

RESUMO

BACKGROUND: An advanced abdominal pregnancy (AAP) rarely continues to a live birth, but sometimes, a live birth may occur. In developed countries, women with AAP who have not been diagnosed preoperatively are expected to be diagnosed quickly, and the pregnant woman and the fetus will be saved. After careful examination of the past cases, we sought to derive what is the best diagnosis and treatment choice in the current medical environment. MATERIALS AND METHODS: We retrospectively studied AAP cases in Japan. We examined diagnosis of AAP before fetal delivery and placental treatment at the time of delivery. AAP was well documented in 10 cases. We contacted the AAP authors, who reported 10 AAP cases in Japan, directly to confirm any unclear points. RESULTS: Two cases were diagnosed with AAP before laparotomy, one was diagnosed after IUFD, and seven were diagnosed at the time of laparotomy. The two most recent cases were diagnosed with AAP preoperatively by ultrasound and MRI. Six cases were described for preoperative diagnosis. There were two cases of placenta previa, one of a bicornuate uterus, one of breech presentation, one of a combination of uterine cervical fibroids and placenta previa, and one of a combination of presentation and placental abnormality with uterine fibroids. In five cases, the placenta was removed at the time of laparotomy. Simultaneous removal of the placenta during laparotomy could not be performed because of intra-amniotic infection with a macerated fetus in an IUFD case. Among eight cases, excluding 20-week and 21-week gestation with no expectation of viable newborns, there were one male and seven female fetuses. The birth weight ranged from 1765 to 3520 g, with a median birth weight of 2241 g. Combined malformations were described in six of the seven live births. Clubfoot, torticollis, joint contracture, and bone deformity were transient because intrauterine compression quickly improved. CONCLUSION: In recent cases, AAP has been diagnosed by MRI and ultrasound. MRI should be performed if abdominal pregnancy is suspected. Postoperative infections may occur if the placenta is not removed at the time of delivery. We recommend placental resection with the help of an anesthesiologist, a gynecologist, a urologist, and a surgeon in the current medical environment.

2.
Mod Rheumatol Case Rep ; 4(1): 122-125, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-33086961

RESUMO

Gigantomastia is characterised by excessive breast growth and can occur as a rare, drug-induced adverse event. D-penicillamine is the most frequent cause of drug-induced gigantomastia. Only one case of gigantomastia due to bucillamine, an analogue of D-penicillamine, has been reported so far. We herein report a case of bucillamine-induced gigantomastia presenting with acute enlargement of the bilateral breasts and accessory breast tissue in the axillae 7 months after the start of bucillamine therapy. Awareness about this rare adverse event is important since bucillamine is still widely used in Japan and Korea.


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Mama/anormalidades , Cisteína/análogos & derivados , Galactorreia/metabolismo , Hiperprolactinemia/metabolismo , Hipertrofia/diagnóstico , Hipertrofia/etiologia , Mama/metabolismo , Cisteína/efeitos adversos , Suscetibilidade a Doenças , Feminino , Humanos , Hiperprolactinemia/diagnóstico , Hipertrofia/metabolismo , Japão , República da Coreia
3.
Hum Genome Var ; 7: 21, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32695431

RESUMO

A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19-42 of TSC2 and exons 2-46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.

4.
JAMA Neurol ; 77(7): 872-877, 2020 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-32310254

RESUMO

Importance: Reports on dermatomyositis (DM) sine dermatitis (DMSD) are scarce, and the concept of the disease has not been widely accepted. Objective: To confirm the existence of DMSD, determine its prevalence, and characterize its serologic features. Design, Setting, and Participants: This is a cohort study that reviewed clinical information, laboratory data, and muscle pathology slides from January 2009 to August 2019. We further assessed the follow-up data of 14 patients with DMSD. The median (interquartile range) follow-up period was 34 (16-64) months. Muscle biopsy samples, along with clinical information and laboratory data, were sent to a referral center for muscle diseases in Japan for diagnosis. Of patients whose myopathologic diagnosis was made at the National Center of Neurology and Psychiatry between January 2009 and August 2019, 199 patients were eligible for inclusion. These patients underwent full investigation for DM-specific autoantibodies (against transcriptional intermediary factor γ, Mi-2, melanoma differentiation-associated gene 5, nuclear matrix protein 2 [NXP-2], and small ubiquitin-like modifier activating enzyme ); however, 17 patients were excluded because their muscle fibers did not express myxovirus resistance protein A, a sensitive and specific marker of DM muscle pathology. Main Outcomes and Measures: Diagnosis of DMSD was based on the absence of a skin rash at the time of muscle biopsy. Results: Of the 182 patients, 93 were women (51%) and 46 were children (25%) (<18 years). Fourteen patients (8%) had DMSD and none were clinically diagnosed with DM. Among the 14 patients with DMSD, 12 (86%) were positive for anti-NXP-2 autoantibodies, while the remaining 2 were positive for anti-transcriptional intermediary factor γ and anti-Mi-2 autoantibodies, respectively. Only 28% of patients (47 of 168) with a skin rash were positive for anti-NXP-2 autoantibodies, indicating a significant association between anti-NXP-2 autoantibodies and DMSD (86% [12 of 14] vs 28% [47 of 168]; P < .001). This association was also supported by multivariable models adjusted for disease duration (odds ratio, 126.47; 95% CI, 11.42-1400.64; P < .001). Conclusions and Relevance: Dermatomyositis sine dermatitis does exist and accounts for 8% of patients with DM confirmed with muscle biopsy. Dermatomyositis sine dermatitis is significantly associated with anti-NXP-2 autoantibodies, which contrasts with anti-MDA5 DM, which is typically clinically amyopathic in presentation. It is essential to distinguish DMSD from other types of myositis because DM-specific therapies that are currently under development, including Janus kinase inhibitors, may be effective for DMSD.


Assuntos
Autoanticorpos/imunologia , Doenças Autoimunes/imunologia , Proteínas de Ligação a DNA/imunologia , Dermatomiosite/imunologia , Fatores de Transcrição/imunologia , Adolescente , Adulto , Idoso , Autoantígenos/imunologia , Doenças Autoimunes/patologia , Criança , Estudos de Coortes , Dermatite , Dermatomiosite/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
5.
Gen Thorac Cardiovasc Surg ; 68(10): 1212-1215, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31625085

RESUMO

Multiple thymic carcinoids are rare, and giant cell arteritis (GCA) is one of the less recognized paraneoplastic diseases. The co-occurrence of these two diseases is therefore extremely rare. We report herein a patient with multiple atypical thymic carcinoids and asymptomatic paraneoplastic GCA. All the thymic carcinoids were diagnosed histopathologically as atypical thymic carcinoids with an intrathymic metastasis. Treatment consisted of a complete tumor resection followed by observation of the GCA without any adjuvant therapy. Subsequent positron emission tomography revealed a decrease in F-fludeoxyglucose accumulation in the systemic arteries. Based on these findings, paraneoplastic GCA was diagnosed. Thymic carcinoids rarely involve intrathymic metastasis or cause neopleonastic GCA. However, when they do, a complete tumor resection is the best option for management.


Assuntos
Tumor Carcinoide/complicações , Arterite de Células Gigantes/etiologia , Neoplasias Primárias Múltiplas/complicações , Síndromes Paraneoplásicas/etiologia , Neoplasias do Timo/complicações , Idoso , Tumor Carcinoide/patologia , Tumor Carcinoide/secundário , Tumor Carcinoide/cirurgia , Feminino , Arterite de Células Gigantes/diagnóstico por imagem , Humanos , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/cirurgia , Síndromes Paraneoplásicas/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Neoplasias do Timo/patologia , Neoplasias do Timo/secundário , Neoplasias do Timo/cirurgia
6.
Case Rep Obstet Gynecol ; 2016: 1087513, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27635270

RESUMO

A 76-year-old female presented to our hospital with a 2 cm firm, nontender, protuberant umbilical nodule. She received treatment with antibiotics for suspected granuloma, with no improvement after two months. High levels of CA125 as well as an ovarian cyst and intrathoracic and intra-abdominal lesions on imaging studies made us suspect an ovarian cancer with a Sister Mary Joseph nodule (SMJN) and other metastases. A bilateral salpingo-oophorectomy and umbilical and omentum tumor resections were performed and a metastatic ovarian serous adenocarcinoma was diagnosed by histopathology. After surgery, the patient received chemotherapy with paclitaxel, carboplatin, and bevacizumab; however paclitaxel allergy was observed. As a result, chemotherapy continued with carboplatin and bevacizumab every three weeks for a total of 6 courses. Currently, she is still undergoing treatment with bevacizumab and CA125 levels have been progressively decreasing. SMJN is a rare umbilical metastasis which needs to be considered as a differential diagnosis in the presence of an umbilical tumor for prompt treatment initiation.

7.
Brain Dev ; 35(5): 445-8, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-22840813

RESUMO

Over the past several years, tacrolimus has attracted attention as a new therapeutic drug for myasthenia gravis (MG), but few reports have considered its use for MG in pediatric patients, and most of these have focused on severe systemic MG. In this case report, we used tacrolimus to successfully treat a 13-year-old boy with ocular MG who had suffered from severe steroid complications, including a failure of thrive and osteoporosis. He first showed symptoms of ocular MG at age 2 years 3 months. At age 13 years, he was receiving PSL (3.75 mg/day), but the symptoms of ocular MG recurred. We increased the dosage of oral PSL up to 30 mg/day, and three courses of mPSL pulse therapy were applied, but these therapies had only limited effect, and his symptoms worsened. Tacrolimus was started at 0.4 mg/day (0.011 mg/kg/day), and every 2 weeks the dose was gradually increased by 0.2 mg/day. His symptoms of MG began to improve 3 weeks after the initial administration of tacrolimus. Approximately 3 months after the start of tacrolimus administration, PSL was discontinued. Currently, at 1 year and 4 months after the start of tacrolimus administration, while slight ptosis is observed in the evening, it does not influence his daily life, and his condition remains comparable to that when he stopped taking PSL. No adverse effects of tacrolimus have been recognized. In pediatric patients with steroid-dependent ocular MG without thymectomy, tacrolimus may be a safe and effective alternative to steroid and thymectomy.


Assuntos
Imunossupressores/uso terapêutico , Miastenia Gravis/tratamento farmacológico , Tacrolimo/uso terapêutico , Adolescente , Peso Corporal/efeitos dos fármacos , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/tratamento farmacológico , Seguimentos , Humanos , Masculino , Miastenia Gravis/complicações
8.
Brain Dev ; 34(6): 478-86, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21959128

RESUMO

PURPOSE: To elucidate the functional characteristics of cortical tubers that might be responsible for epilepsy in tuberous sclerosis complex (TSC), proton magnetic resonance spectroscopy ((1)H-MRS) and [123I] iomazenil (123I-IMZ) single photon emission computed tomography (SPECT) were performed. METHODS: (1)H-MRS using a clinical 3-tesla magnetic resonance imager was performed in four children with TSC and 10 age-and sex-matched healthy control subjects. A single voxel was set on the right parietal lobe in control subjects. In patients with TSC, a single voxel was set on the epileptogenic tuber in the parietal or temporal lobe, and another voxel was set on the contralateral normal-appearing brain region. N-Acetylaspartate (NAA), myo-Inositol (mIns) and Glutamate (Glu) were analyzed using a conventional STEAM (Stimulated Echo Acquisition Mode) method. The concentration of gamma-aminobutyric acid (GABA) was quantified using MEGA-Point Resolved Spectroscopy (PRESS). Interictal 123I-IMZ SPECT was examined in all four patients with TSC. RESULTS: A significant decrease in the NAA concentration and significant increases in the mIns and GABA concentrations were detected in the cortical tubers of all 4 patients. No significant difference was observed in Glu concentrations. In all of the cortical tubers detected by magnetic resonance imaging, 123I-IMZ binding was significantly decreased. CONCLUSION: Epileptogenesis in TSC might be caused by decreased inhibition secondary to the decrease in GABA receptors in dysplastic neurons of cortical tubers. An increase in the GABA concentration may compensate for decreased inhibition.


Assuntos
Ácido Aspártico/análogos & derivados , Encéfalo/metabolismo , Ácido Glutâmico/metabolismo , Inositol/metabolismo , Receptores de GABA-A/metabolismo , Esclerose Tuberosa/metabolismo , Ácido gama-Aminobutírico/metabolismo , Ácido Aspártico/metabolismo , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Flumazenil/análogos & derivados , Humanos , Radioisótopos do Iodo , Espectroscopia de Ressonância Magnética , Masculino , Prótons , Compostos Radiofarmacêuticos , Tomografia Computadorizada de Emissão de Fóton Único , Esclerose Tuberosa/diagnóstico por imagem
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