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1.
BMC Pregnancy Childbirth ; 24(1): 277, 2024 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-38622521

RESUMEN

BACKGROUND: Transverse uterine fundal incision (TUFI) is a beneficial procedure for mothers and babies at risk due to placenta previa-accreta, and has been implemented worldwide. However, the risk of uterine rupture during a subsequent pregnancy remains unclear. We therefore evaluated the TUFI wound scar to determine the approval criteria for pregnancy after this surgery. METHODS: Between April 2012 and August 2022, we performed TUFI on 150 women. Among 132 of the 150 women whose uteruses were preserved after TUFI, 84 women wished to conceive again. The wound healing status, scar thickness, and resumption of blood flow were evaluated in these women by magnetic resonance imaging (MRI) and sonohysterogram at 12 months postoperatively. Furthermore, TUFI scars were directly observed during the Cesarean sections in women who subsequently conceived. RESULTS: Twelve women were lost to follow-up and one conceived before the evaluation, therefore 71 cases were analyzed. MRI scans revealed that the "scar thickness", the thinnest part of the scar compared with the normal surrounding area, was ≥ 50% in all cases. The TUFI scars were enhanced in dynamic contrast-enhanced MRI except for four women. However, the scar thickness in these four patients was greater than 80%. Twenty-three of the 71 women conceived after TUFI and delivered live babies without notable problems until August 2022. Their MRI scans before pregnancy revealed scar thicknesses of 50-69% in two cases and ≥ 70% in the remaining 21 cases. And resumption of blood flow was confirmed in all patients except two cases whose scar thickness ≥ 90%. No evidence of scar healing failure was detected at subsequent Cesarean sections, but partial thinning was found in two patients whose scar thicknesses were 50-69%. In one woman who conceived seven months after TUFI and before the evaluation, uterine rupture occurred at 26 weeks of gestation. CONCLUSIONS: Certain criteria, including an appropriate suture method, delayed conception for at least 12 months, evaluation of the TUFI scar at 12 months postoperatively, and cautious postoperative management, must all be met in order to approve a post-TUFI pregnancy. Possible scar condition criteria for permitting a subsequent pregnancy could include the scar thickness being ≥ 70% of the surrounding area on MRI scans, at least partially resumed blood flow, and no abnormalities on the sonohysterogram. TRIAL REGISTRATION: Retrospectively registered.


Asunto(s)
Placenta Accreta , Herida Quirúrgica , Rotura Uterina , Embarazo , Femenino , Humanos , Cicatriz/diagnóstico por imagen , Cicatriz/etiología , Estudios Retrospectivos , Útero/diagnóstico por imagen , Útero/cirugía , Cesárea/efectos adversos , Cesárea/métodos
2.
Artículo en Inglés | MEDLINE | ID: mdl-39073199

RESUMEN

In the case of placenta previa-accreta when the placenta covers the entire anterior uterine wall, it is difficult to avoid transecting the placenta by traditional low-transverse cesarean section (CS), resulting in catastrophic hemorrhage and fetal anemia. To prevent this critical risk, we developed the CS with transverse uterine fundal incision (TUFI) and this technique has been widely used as a beneficial surgical method in clinical practice owing to its safety advantages for the mother and neonate since our first report. However, the risk of uterine rupture during a subsequent pregnancy remains unclear. Based on our 17 years of experience, patients who require TUFI do not need to avoid this beneficial operative method simply because of their desire to conceive again, as long as certain conditions can be met. To approve a post-TUFI pregnancy, an appropriate suture method, delay in conception for at least 12 months with evaluation of the TUFI scar, and cautious postoperative management are at a minimum essential. In this article, we showed our recommendation for operative procedure and discuss the current status of the management of post-TUFI pregnancies based on the evaluation of the TUFI wound scar and experience with postoperative pregnancies.

3.
J Obstet Gynaecol Res ; 50(2): 190-195, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37986672

RESUMEN

AIM: We have established a novel extraperitoneal cesarean section technique by supravesical approach. An advantage of this technique over the conventional paravesical approach is that the lower uterine segment is broadly exposed and that all operative procedures can be performed under direct vision. We present the details of this novel technique. METHODS: The bladder and the peritoneum are exposed by removing the transversalis and extraperitoneal fasciae. Subsequently, a triangular area between the median umbilical ligament, the peritoneum, and the bladder is exposed. The median umbilical ligament is dissected at this site. Bladder dissection from the peritoneum is also initiated from this area and proceeds toward the lower uterine segment. RESULTS: Operative times for pelvic fascia dissection and bladder removal from the peritoneal surface are currently around 15-25 min. During the process of development of this technique, there have been no bladder injuries in 501 patients that caused urine leakage. DISCUSSION: The supravesical approach has been considered difficult due to the strong adhesion between the perivesical fascia and the peritoneum at the bladder fundus. In this paper, we show how to safely remove the bladder fundus from the peritoneum. The bladder can then be easily lowered down toward the lower uterine segment. Although this technique allows the lower uterine segment to be broadly exposed and all operative procedures can be performed under direct vision, a disadvantage is the comparatively long time currently required to perform it. CONCLUSIONS: This technique could be a valuable option for extraperitoneal cesarean section, but disadvantages must also be considered.


Asunto(s)
Cesárea , Enfermedades de la Vejiga Urinaria , Humanos , Femenino , Embarazo , Cesárea/métodos , Vejiga Urinaria/cirugía , Peritoneo/cirugía , Útero
4.
Electrophoresis ; 44(17-18): 1446-1460, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37294166

RESUMEN

A new protocol for conducting two-dimensional (2D) electrophoresis was developed by combining the recently developed agarose native gel electrophoresis with either vertical sodium dodecyl sulfate (SDS) polyacrylamide gel electrophoresis (PAGE) or flat SDS agarose gel electrophoresis. Our innovative technique utilizes His/MES buffer (pH 6.1) during the first-dimensional (1D) agarose native gel electrophoresis, which allows for the simultaneous and clear visualization of basic and acidic proteins in their native states or complex structures. Our agarose gel electrophoresis is a true native electrophoresis, unlike blue native-PAGE, which relies on the intrinsic charged states of the proteins and their complexes without the need for dye binding. In the 2D, the gel strip from the 1D agarose gel electrophoresis is soaked in SDS and placed on top of the vertical SDS-PAGE gels or the edge of the flat SDS-MetaPhor high-resolution agarose gels. This allows for customized operation using a single electrophoresis device at a low cost. This technique has been successfully applied to analyze various proteins, including five model proteins (BSA, factor Xa, ovotransferrin, IgG, and lysozyme), monoclonal antibodies with slightly different isoelectric points, polyclonal antibodies, and antigen-antibody complexes, as well as complex proteins such as IgM pentamer and ß-galactosidase tetramer. Our protocol can be completed within a day, taking approximately 5-6 h, and can be expanded further into Western blot analysis, mass spectrometry analysis, and other analytical methods.


Asunto(s)
Proteínas , Sefarosa/química , Proteínas/análisis , Electroforesis en Gel Bidimensional/métodos , Electroforesis en Gel de Poliacrilamida , Electroforesis en Gel de Agar/métodos , Geles
5.
Endocr J ; 70(2): 149-159, 2023 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-36198615

RESUMEN

Metformin, an oral medication, is prescribed to patients with type 2 diabetes mellitus. Although the efficacy, safety, and low economic burden of metformin on patients have long been recognized, approximately 5% of the patients treated with this drug develop severe diarrhea and discontinue the treatment. We previously reported that 1,000 mg·kg-1·day-1 of metformin induced diarrhea in diabetic obese (db/db) mice and wood creosote (traditional medication for diarrhea) ameliorated the symptoms. In this study, we attempted to elucidate the molecular mechanisms by which metformin induces diarrhea. Cystic fibrosis transmembrane conductance regulator (CFTR) is a key ion (chloride) channel in cyclic adenosine monophosphate (cAMP)-induced diarrhea. Metformin treatment increased bile flow (bile acids and bilirubin) in the ileum of mice. In addition, the treatment was accompanied by an increase in mRNA and protein levels of CFTR in the mucosa of the ileum and colon in both wild-type (C57BL/6J) and db/db mice. Glucagon-like peptide-1 (GLP-1), as well as cholic acid, induces CFTR mRNA expression in human colon carcinoma Caco-2 cells through cAMP signaling. Although wood creosote (10 mg/kg) ameliorated diarrhea symptoms, it did not alter the mRNA levels of Glp-1 or Cftr. Similar to overeating, metformin upregulated GLP-1 and CFTR expression, which may have contributed to diarrhea symptoms in mice. Although we could not identify db/db mouse-specific factors associated with metformin-induced diarrhea, these factors may modulate colon function. Wood creosote may not interact with these factors but ameliorates diarrhea symptoms.


Asunto(s)
Diabetes Mellitus Tipo 2 , Metformina , Ratones , Humanos , Animales , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Células CACO-2 , Péptido 1 Similar al Glucagón , Creosota , Ratones Endogámicos C57BL , AMP Cíclico/metabolismo , Colon/metabolismo , Diarrea/metabolismo , ARN Mensajero , Íleon/metabolismo
6.
J Obstet Gynaecol Res ; 49(5): 1424-1428, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36859653

RESUMEN

AIM: Due to the U.S. Food and Drug Administration's order to cease the use of surgical mesh for transvaginal repair, an improvement of the native tissue repair (NTR) of pelvic organ prolapse (POP) could become important as one of the first-line operative methods. This study details the surgical technique of an NTR method we developed, with report of our 5 years of experience. METHODS: Operative technique: A new fibromuscular layer (FL) was constructed using a thick and elastic tissue continuous with and obscured behind the original FL of the vaginal wall. PATIENTS: Between April 2017 and March 2020, we performed our novel repair technique on 87 women with POP of either quantification stage III or IV. RESULTS: We followed up 80 of the 87 women for over 24 months up to 60 months (follow-up rate: 91.2%). POP recurred (defined as stage II or higher) in four patients (5.0%). Operation time was 49-70 min. The bleeding volume was 70-250 g. There were no intra- or postoperative complications that required further treatment. CONCLUSIONS: This procedure could potentially become one of the first-line operative methods for repairing POP.


Asunto(s)
Tejido Elástico , Prolapso de Órgano Pélvico , Embarazo , Humanos , Femenino , Procedimientos Quirúrgicos Ginecológicos/métodos , Vagina/cirugía , Prolapso de Órgano Pélvico/cirugía , Colpotomía , Mallas Quirúrgicas , Resultado del Tratamiento
7.
Acta Med Okayama ; 77(5): 561-566, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37899268

RESUMEN

West syndrome, an infantile developmental and epileptic encephalopathy with a deleterious impact on long-term development, requires early treatment to minimize developmental abnormality; in such cases, epilepsy surgery should be considered a powerful therapeutic option. We describe a 10-month-old female admitted with West syndrome associated with a hemispheric lesion following abusive head trauma. Her seizures were suppressed by hemispherotomy at 12 months of age, leading to developmental improvement. Surgical treatment of West syndrome following traumatic brain injury has not been reported previously but is worth considering as a treatment option, depending on patient age and brain plasticity.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Traumatismos Craneocerebrales , Epilepsia , Espasmos Infantiles , Humanos , Femenino , Lactante , Espasmos Infantiles/complicaciones , Espasmos Infantiles/tratamiento farmacológico , Traumatismos Craneocerebrales/complicaciones , Traumatismos Craneocerebrales/cirugía , Convulsiones , Lesiones Traumáticas del Encéfalo/complicaciones , Electroencefalografía
8.
J Obstet Gynaecol Res ; 48(6): 1484-1488, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35315176

RESUMEN

Toxic shock syndrome can be caused by methicillin-resistant Staphylococcus aureus (MRSA). During puerperium this condition is rare, and proper treatment during this period has not been clarified. Two patients developed toxic shock syndrome caused by MRSA soon after cesarean section. Despite the administration of antibiotics, both developed severe conditions and one of them required hysterectomy. The dosage was adjusted in the same way as nonpregnancy, but the actual drug concentration was significantly different from expectation. When there is severe infection during the early postpartum period, maintaining drug concentration at optimal levels may be difficult, and this could be life-threatening. Better understanding of the pharmacokinetics and establishment of a method to determine the optimal drug dose during puerperium is required.


Asunto(s)
Staphylococcus aureus Resistente a Meticilina , Choque Séptico , Infecciones Estafilocócicas , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Cesárea/efectos adversos , Femenino , Humanos , Periodo Posparto , Embarazo , Choque Séptico/tratamiento farmacológico , Choque Séptico/etiología , Infecciones Estafilocócicas/complicaciones , Infecciones Estafilocócicas/tratamiento farmacológico
9.
Acta Med Okayama ; 76(6): 617-624, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36549763

RESUMEN

We developed an artificial intelligence (AI) technique to identify epileptic discharges (spikes) in pediatric scalp electroencephalograms (EEGs). We built a convolutional neural network (CNN) model to automatically classify steep potential images into spikes and background activity. For the CNN model' training and validation, we examined 100 children with spikes in EEGs and another 100 without spikes. A different group of 20 children with spikes and 20 without spikes were the actual test subjects. All subjects were ≥ 3 to < 18 years old. The accuracy, sensitivity, and specificity of the analysis were >0.97 when referential and combination EEG montages were used, and < 0.97 with a bipolar montage. The correct classification of background activity in individual patients was significantly better with a referential montage than with a bipolar montage (p=0.0107). Receiver operating characteristic curves yielded an area under the curve > 0.99, indicating high performance of the classification method. EEG patterns that interfered with correct classification included vertex sharp transients, sleep spindles, alpha rhythm, and low-amplitude ill-formed spikes in a run. Our results demonstrate that AI is a promising tool for automatically interpreting pediatric EEGs. Some avenues for improving the technique were also indicated by our findings.


Asunto(s)
Inteligencia Artificial , Epilepsia , Niño , Humanos , Adolescente , Proyectos Piloto , Cuero Cabelludo , Electroencefalografía/métodos , Epilepsia/diagnóstico
10.
Acta Med Okayama ; 76(3): 323-328, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35790363

RESUMEN

Cortical tubers are one of the typical intracranial manifestations of tuberous sclerosis complex (TSC). Multiple cortical tubers are easy to diagnose as TSC; however, a solitary cortical tuber without any other cutaneous or visceral organ manifestations can be confused with other conditions, particularly focal cortical dysplasia. We report a surgical case of refractory epilepsy caused by a solitary cortical tuber mimicking focal cortical dysplasia type II, and describe the radiological, electrophysiological, and histopathological findings of our case.


Asunto(s)
Calcinosis , Epilepsia , Malformaciones del Desarrollo Cortical de Grupo I , Malformaciones del Desarrollo Cortical , Esclerosis Tuberosa , Calcinosis/complicaciones , Epilepsia/diagnóstico , Epilepsia/etiología , Humanos , Malformaciones del Desarrollo Cortical/complicaciones , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Malformaciones del Desarrollo Cortical de Grupo I/complicaciones , Malformaciones del Desarrollo Cortical de Grupo I/diagnóstico , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/patología , Esclerosis Tuberosa/cirugía
11.
Neurocase ; 27(5): 407-414, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34503372

RESUMEN

Previous studies have reported that transcranial direct current stimulation (tDCS) of the frontal polar area (FPA) ameliorated motor disability in patients with Parkinson's disease (PD). Here we report changes in neuromelanin (NM) imaging of dopaminergic neurons before and after rehabilitation combined with anodal tDCS over the FPA for 2 weeks in a PD patient. After the intervention, the patient showed clinically meaningful improvements while the NM-sensitive area in the SN increased by 18.8%. This case study is the first report of NM imaging of the SN in a PD patient who received tDCS.Abbreviations FPA: front polar area; PD: Parkinson's disease; NM: neuromelanin; DCI: DOPA decarboxylase inhibitor; STEF: simple test for evaluating hand function; TUG: timed up and go test; TMT: trail-making test; SN: substantia nigra; NM-MRI: neuromelanin magnetic resonance imaging; MCID: the minimal clinically important difference; SNpc: substantia nigra pars compacta; VTA: ventral tegmental area; LC: locus coeruleus; PFC: prefrontal cortex; M1: primary motor cortex; MDS: Movement Disorder Society; MIBG: 123I-metaiodobenzylguanidine; SBR: specific binding ratio; SPECT: single-photon emission computed tomography; DAT: dopamine transporter; NIBS: noninvasive brain stimulation; tDCS: transcranial direct current stimulation; MAOB: monoamine oxidase B; DCI: decarboxylase inhibitor; repetitive transcranial magnetic stimulation: rTMS; diffusion tensor imaging: DTI; arterial spin labeling: ASL.


Asunto(s)
Personas con Discapacidad , Trastornos Motores , Enfermedad de Parkinson , Estimulación Transcraneal de Corriente Directa , Humanos , Imagen por Resonancia Magnética/métodos , Melaninas , Trastornos Motores/metabolismo , Trastornos Motores/patología , Enfermedad de Parkinson/terapia , Equilibrio Postural , Sustancia Negra/diagnóstico por imagen , Sustancia Negra/metabolismo , Sustancia Negra/patología , Estudios de Tiempo y Movimiento
12.
Acta Neurochir (Wien) ; 163(6): 1777-1785, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-32995934

RESUMEN

BACKGROUND: The purpose of the present study was to clarify the characteristics of endothelial cell (EC) proliferation in intraplaque microvessels in vulnerable plaques and impact on clinical results. METHODS: The present study included 76 patients who underwent carotid endarterectomy. Patients were classified into three groups based on their symptoms: asymptomatic, symptomatic without recurrent ischemic event, and symptomatic with recurrent ischemic event. MR plaque imaging was performed and surgical specimens underwent immunohistochemical analysis. The number of CD31+ microvessels, and Ki67+ and CD105+ ECs in the carotid plaques was quantified, as measurements of maximum CD31+ microvessel diameter. RESULTS: MR plaque imaging yielded 41 subjects (54.0%) diagnosed with plaque with intraplaque hemorrhage (IPH), 14 subjects (18.4%) diagnosed with fibrous plaques, and 21 (27.6%) subjects diagnosed with lipid-rich plaques. The average largest diameter of microvessel in fibrous plaques, lipid-rich plaques, and plaque with IPH was 12.7 ± 4.1 µm, 31.3 ± 9.3 µm, and 56.4 ± 10.0 µm, respectively (p < 0.01). Dilated microvessels (>40 µm) were observed in 9.6% of plaques with IPH but only in 2.8% of lipid-rich plaques and 0% of fibrous plaques (p < 0.01). Ki67+/CD31+ ECs were identified in 2.8 ± 1.2% of fibrous plaques, 9.6 ± 6.9% of lipid-rich plaques, and in 19.5 ± 5.9% of plaques with IPH (p < 0.01). The average largest diameter of microvessels in the asymptomatic group was 17.1 ± 8.7 µm, 32.3 ± 10.8 µm in the symptomatic without recurrence group, and 55.2 ± 13.2 µm in the symptomatic with recurrence group (p < 0.01). CONCLUSION: Dilated microvessels with proliferative ECs may play a key role in IPH pathogenesis. Furthermore, dilated microvessels are likely related to clinical onset and the recurrence of ischemic events. The purpose of the present study was to clarify the characteristics of EC proliferation in intraplaque microvessels in vulnerable plaques and their impact on clinical results, focusing on dilated intraplaque microvessels.


Asunto(s)
Arterias Carótidas/patología , Células Endoteliales/patología , Hemorragia/patología , Microvasos/patología , Placa Aterosclerótica/patología , Anciano , Anciano de 80 o más Años , Arterias Carótidas/cirugía , Proliferación Celular , Dilatación Patológica , Endoglina/metabolismo , Humanos , Antígeno Ki-67/metabolismo , Masculino , Persona de Mediana Edad , Placa Aterosclerótica/cirugía
13.
J Obstet Gynaecol Res ; 47(3): 900-903, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33331020

RESUMEN

AIM: Transverse uterine fundal incision (TUFI) was developed to avoid catastrophic hemorrhage associated with cesarean section of the placenta previa-accreta. Abdominal incisions extend as far as the upper abdomen in patients in the third trimester of pregnancy and require general anesthesia. Instead, we tried to aspirate amniotic fluid (AF) to reduce the uterine size. METHODS: TUFI was performed in 19 of our patients in the third trimester in whom placenta previa accreta could not be ruled out between June 2012 and August 2016. After the lower abdominal vertical incision, we attempted to exteriorize the uterine fundus. If this was impossible, we inserted an 18-gauge spinal needle into the amniotic space. We aspirated AF until the uterine fundus could be exteriorized. RESULTS: We exteriorized the uterine fundus without extending the incision to the upper abdomen by aspirating 250-670 mL of AF in 12 patients who were between the 33rd and 37th week of pregnancy, and TUFI was performed under spinal anesthesia. AF aspiration was not required in four patients who were in the 30th or 31st week of pregnancy and in two patients with oligohydramnios in the 35th week of pregnancy. In one case, the trial was canceled due to hemorrhagic AF aspiration. No serious complications were observed in mothers or neonates. CONCLUSION: TUFI could be made by abdominal incision to the left of the umbilicus under spinal anesthesia without anesthesia by reducing the uterine size through AF aspiration, even for patients in the third trimester of pregnancy.


Asunto(s)
Placenta Accreta , Placenta Previa , Líquido Amniótico , Cesárea , Femenino , Humanos , Recién Nacido , Embarazo , Útero/cirugía
14.
J Stroke Cerebrovasc Dis ; 30(7): 105827, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33932750

RESUMEN

OBJECTIVE: Intracerebral hematoma involves two mechanisms leading to brain injury: the mechanical disruption of adjacent brain tissue by the hematoma and delayed neurological injury. Delayed neurological injury involves perihematomal edema (PHE) formation. Infectious complications following intracerebral hemorrhage (ICH) are a significant contributor to post-ICH recovery. We sought to identify a correlation between PHE volumes and infectious complications following ICH. We also sought to explore the clinical impact of this association. MATERIALS AND METHODS: This retrospective study included 143 patients with spontaneous ICH. CT scans were performed on admission, and 3 h, 24 h, and 72 h following admission. Hematoma and PHE volumes were calculated using a semi-automatic method. The absolute PHE volume at each time point and changes in PHE volume (ΔPHE) were calculated. Neutrophil to lymphocyte ratio (NLR) and serum C-reactive protein (CRP) levels were measured from the obtained blood samples. Neurological deterioration (ND) was assessed in all patients. RESULTS: Infectious complications were associated with ΔPHE72-24 (P < 0.01), whereas there was no association between infectious complications and ΔPHE24-3 (P = 0.09) or ΔPHE3-ad (P = 0.81). There was a positive correlation between ΔPHE72-24 and NLR (r = 0.85, 95% CI: 0.79-0.90, P < 0.01) and between ΔPHE72-24 and CRP levels (r = 0.89, 95% CI: 0.84-0.92, P < 0.01). The ND rate in the group of patients with infectious complications comorbid with high ΔPHE72-24 was higher than the other patient groups (P < 0.01). CONCLUSIONS: This study revealed a correlation between ΔPHE72-24 and infectious complications after spontaneous ICH, which was associated with markers of systemic inflammation. This phenotype linkage is a negative cascade that drives ND.


Asunto(s)
Edema Encefálico/etiología , Hemorragia Cerebral/complicaciones , Enfermedades Transmisibles/etiología , Anciano , Anciano de 80 o más Años , Edema Encefálico/diagnóstico por imagen , Proteína C-Reactiva/análisis , Hemorragia Cerebral/diagnóstico por imagen , Enfermedades Transmisibles/diagnóstico , Femenino , Humanos , Mediadores de Inflamación/sangre , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Tomografía Computarizada por Rayos X
15.
Hum Mol Genet ; 27(8): 1421-1433, 2018 04 15.
Artículo en Inglés | MEDLINE | ID: mdl-29432562

RESUMEN

Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA). Notably, mutations were observed in different functional domains: in addition to three catalytic domain mutations, two missense mutations were found in the auto-inhibitory (AI) domain. One additional frameshift insertion that caused premature termination was also identified. Detailed clinical evaluation of the six individuals revealed clinically unexpected consequences of the PPP3CA mutations. First, the catalytic domain mutations and frameshift mutation were consistently found in patients with nonsyndromic early onset epileptic encephalopathy. In contrast, the AI domain mutations were associated with multiple congenital abnormalities including craniofacial dysmorphism, arthrogryposis and short stature. In addition, one individual showed severe skeletal developmental defects, namely, severe craniosynostosis and gracile bones (severe bone slenderness and perinatal fractures). Using a yeast model system, we showed that the catalytic and AI domain mutations visibly result in decreased and increased calcineurin signaling, respectively. These findings indicate that different functional effects of PPP3CA mutations are associated with two distinct disorders and suggest that functional approaches using a simple cellular system provide a tool for resolving complex genotype-phenotype correlations.


Asunto(s)
Artrogriposis/genética , Calcineurina/genética , Anomalías Craneofaciales/genética , Enanismo/genética , Mutación con Ganancia de Función , Mutación con Pérdida de Función , Espasmos Infantiles/genética , Secuencia de Aminoácidos , Artrogriposis/metabolismo , Artrogriposis/patología , Secuencia de Bases , Calcineurina/química , Calcineurina/metabolismo , Niño , Preescolar , Anomalías Craneofaciales/metabolismo , Anomalías Craneofaciales/patología , Enanismo/metabolismo , Enanismo/patología , Femenino , Regulación de la Expresión Génica , Estudios de Asociación Genética , Humanos , Masculino , Modelos Moleculares , Linaje , Conformación Proteica en Hélice alfa , Conformación Proteica en Lámina beta , Dominios Proteicos , Proteínas Recombinantes/química , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Espasmos Infantiles/metabolismo , Espasmos Infantiles/patología , Adulto Joven
16.
Int J Gynecol Pathol ; 39(1): 79-83, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31815893

RESUMEN

Primary ovarian lymphomas are rare, but can potentially evoke diagnostic problems. We present a case of ovarian lymphoma, in which an ambiguous intraoperative pathologic report led to overtreatment (unnecessary surgery). A 73-yr-old woman with fatigue and low-grade fever was diagnosed as having a left ovarian tumor by imaging modalities. Exploratory laparotomy was carried out to confirm the diagnosis. The frozen tissue sections of the ovarian tumor showed condensed proliferation of atypical round cells accompanied with a few small lymphocytes. The pathologists could not determine whether this tumor was a lymphoma or another malignancy (eg, dysgerminoma). Hence, they reported it to gynecologists who operated as simply a malignant tumor in order to evade misdiagnosis. On the basis of the inconclusive pathologic report, the gynecologists decided to change the planned laparotomy to total hysterectomy with bilateral salpingo-oophorectomy and pelvic lymph node dissection. A postoperative paraffin section-based pathologic diagnosis was diffuse large B-cell lymphoma of the ovary, which basically does not require surgical treatments. Subsequently, chemotherapy for B-cell lymphoma was initiated, and no lymphoma recurrence has been reported to date. A more robust preoperative discussion between the gynecologists and the pathologists might have avoided the overtreatment.


Asunto(s)
Cuidados Intraoperatorios , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/cirugía , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Anciano , Femenino , Secciones por Congelación , Humanos , Histerectomía , Escisión del Ganglio Linfático , Linfoma de Células B Grandes Difuso/patología , Imagen por Resonancia Magnética , Uso Excesivo de los Servicios de Salud , Recurrencia Local de Neoplasia , Neoplasias Ováricas/patología , Pelvis/cirugía , Derivación y Consulta , Salpingooforectomía , Resultado del Tratamiento
17.
Epilepsy Behav ; 102: 106688, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31805503

RESUMEN

OBJECTIVE: Postictal generalized electroencephalographic suppression (PGES) has been associated with sudden unexpected death in epilepsy (SUDEP) in adults. Decreased heart rate variability (HRV) is one clinical marker of SUDEP in adults with epilepsy. The objective of this study was to analyze the characteristics of HRV associated with generalized convulsive seizures (GCS) ±â€¯PGES in children. METHODS: Nine hundred and seventy-seven consecutive children who underwent prolonged scalp video-EEG (vEEG) and 1-lead electrocardiogram (ECG) monitoring at the Hospital for Sick Children, Toronto, Ontario, Canada were reviewed retrospectively from 2009 to 2011. Thirty-five children had GCS captured during their vEEG with or without PGES and met inclusion criteria. Children were subdivided into three age groups and compared with age-matched controls: 3-6 years; 7-12 years; and 13-18 years. Interictal HRV was measured at 5 min during N2 sleep. Preictal HRV was measured at 1 h prior to GCS onset, and postictal HRV was measured at 3 min post-GCS cessation. Low frequency (LF: ms2, 0.04-0.15 Hz) and high frequency (HF: ms2, 0.15-0.4 Hz) bands of heart rate oscillations were analyzed during the interictal and preictal periods. The root mean square of successive differences (RMSSDs) was analyzed during the following time points: interictal; preictal; and postictal. RESULTS: Thirty-five children had GCS: 18 children with PGES [3-6 years (n = 2); 7-12 years (n = 6); 13-18 years (n = 10)] and 17 children without PGES [3-6 years (n = 6); 7-12 years (n = 5); 13-18 years (n = 6)]. Seventeen additional age-matched controls were identified [3-6 years (n = 3); 7-12 years (n = 5); 13-18 years (n = 9)]. Seventy-four GCS were captured consisting of 36 GCS + PGES and 38 GCS - PGES. There was no difference of interictal HRV among children with GCS ±â€¯PGES and controls. The preictal LF and HF in 36 GCS + PGES were significantly higher compared with 38 GCS - PGES (p < 0.01). The postictal RMSSD in 36 GCS + PGES was significantly higher compared with 38 GCS - PGES (p < 0.01). The pre- to postictal RMSSD change was significantly lower in children with GCS + PGES than in those with GCS - PGES (p = 0.035). CONCLUSIONS: In summary, the preictal HRV in GCS + PGES was significantly higher than in children with GCS - PGES. The higher remaining postictal RMSSD in children with GCS + PGES is a potential indicator of autonomic dysregulation. In certain children with epilepsy, autonomic dysregulation may contribute to poor recovery from a GCS with subsequent PGES, thereby contributing to SUDEP. Heart rate variability and autonomic regulation in children with epilepsy should be further studied prospectively in order to better understand the mechanism by which PGES may lead to SUDEP.


Asunto(s)
Electroencefalografía/métodos , Epilepsia Generalizada/fisiopatología , Frecuencia Cardíaca/fisiología , Convulsiones/fisiopatología , Muerte Súbita e Inesperada en la Epilepsia , Adulto , Niño , Electroencefalografía/tendencias , Epilepsia Generalizada/epidemiología , Femenino , Humanos , Masculino , Ontario/epidemiología , Estudios Retrospectivos , Convulsiones/epidemiología , Fases del Sueño/fisiología , Muerte Súbita e Inesperada en la Epilepsia/epidemiología
18.
Acta Neurochir (Wien) ; 162(10): 2573-2581, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32458404

RESUMEN

BACKGROUND: Measurement of luminal stenosis and determination of plaque instability using MR plaque imaging are effective strategies for evaluating high-risk carotid stenosis. Nevertheless, new methods are required to identify patients with carotid stenosis at risk of future stroke. We aimed to clarify the mechanisms and clinical implications of the hyperintense vessel sign (HVS) as a marker of high-risk carotid stenosis. METHODS: We included 148 patients who underwent carotid stent (CAS) or carotid endarterectomy (CEA). MRI FLAIR was performed to detect HVS prior to and within 7 days after CAS/CEA. MR plaque imaging and 123I-iodoamphetamine SPECT was performed prior to CEA/CAS. Detailed characteristics of HVS were categorized in terms of symptomatic status, hemodynamic state, plaque composition, and HVS on time series. RESULTS: Forty-six of 80 symptomatic hemispheres (57.5%) and 5 of 68 asymptomatic hemispheres (7.4%) presented HVS (P < 0.01). Of the 46 symptomatic hemispheres with HVS, 19 (41.3%) presented with hemodynamic impairment and 27 (58.7%) presented without hemodynamic impairment. Of 19 hemispheres with hemodynamic impairment, 12 subjects (63.2%) showed high intensity and 7 (36.8%) showed iso-intensity plaques on T1WI. All 27 hemispheres without hemodynamic impairment showed high-intensity plaques. Of the five asymptomatic and HVS-positive hemispheres, one showed hemodynamic impairment; MR plaque imaging revealed T1 iso-intensity. The other four hemispheres that did not show hemodynamic impairment showed T1WI high-intensity plaques. CONCLUSION: There are two possible mechanisms of HVS, hemodynamic impairment due to severe carotid stenosis and micro-embolism from unstable plaques. HVS could be a radiological marker for high-risk carotid stenosis.


Asunto(s)
Arteriosclerosis/diagnóstico por imagen , Estenosis Carotídea/diagnóstico por imagen , Endarterectomía Carotidea/efectos adversos , Imagen por Resonancia Magnética/métodos , Complicaciones Posoperatorias/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único/métodos , Anciano , Arteriosclerosis/complicaciones , Arteriosclerosis/cirugía , Estenosis Carotídea/etiología , Estenosis Carotídea/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad
19.
J Obstet Gynaecol Res ; 46(8): 1456-1459, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32363698

RESUMEN

Uterine ruptures typically occur suddenly, have obvious symptoms, and may require urgent treatment. We experienced a case of complete rupture of an unscarred uterus that was undetected for 9 days. We report the clinical course and possible factors that led to it. Nine days after delivery, complete rupture of the posterior uterine wall was diagnosed by magnetic resonance imaging. The colon and ovaries were tightly adhered to the posterior uterine body. When this adhesive lesion was detached, 7 cm horizontal defects of the muscular layer were revealed. The ruptured wound was repaired. Magnetic resonance imaging 1 year postoperatively showed no thinning of the repaired lesion and suggested successful reperfusion. Mild clinical course despite complete uterine rupture was presumably because of adhesion of the ovaries and intestines to the rupture site.


Asunto(s)
Rotura Uterina , Femenino , Humanos , Embarazo , Rotura Uterina/etiología , Rotura Uterina/cirugía , Útero/diagnóstico por imagen , Útero/cirugía
20.
J Obstet Gynaecol Res ; 46(7): 1207-1210, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32410216

RESUMEN

We present a new, conservative treatment strategy for the cases in which an initial repair surgery of uterine rupture failed. In a case presented here, the patient underwent a repair surgery for the uterine rupture that became apparent 4 days after the cesarean delivery, but a part of the wound did not heal and an abscess formed in the surrounding area. The patient had purulent discharge from vagina, which led us to try to insert a Nelaton tube from vagina via cervical canal and to cleanse the abscess cavity. This procedure was successful and the abscess disappeared 38 days later, allowing the healing of the ruptured wound. The patient could deliver a baby 2 years later. Even if the initial repair treatment fails, a possibility of preserving the uterus should be considered for next pregnancy. One of the concrete treatment strategies for this purpose was presented.


Asunto(s)
Rotura Uterina , Absceso/cirugía , Cesárea/efectos adversos , Femenino , Humanos , Embarazo , Rotura Uterina/cirugía
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