RESUMEN
This work presents a single-structure 3-axis Lorentz force magnetometer (LFM) based on an AlN-on-Si MEMS resonator. The operation of the proposed LFM relies on the flexible manipulation of applied excitation currents in different directions and frequencies, enabling the effective actuation of two mechanical vibration modes in a single device for magnetic field measurements in three axes. Specifically, the excited out-of-plane drum-like mode at 277 kHz is used for measuring the x- and y-axis magnetic fields, while the in-plane square-extensional mode at 5.4 MHz is used for measuring the z-axis magnetic field. The different configurations of applied excitation currents ensure good cross-interference immunity among the three axes. Compared to conventional capacitive LFMs, the proposed piezoelectric LFM utilizes strong electromechanical coupling from the AlN layer, which allows it to operate at ambient pressure with a high sensitivity. To understand and analyze the measured results, a novel equivalent circuit model for the proposed LFM is also reported in this work, which serves to separate the effect of Lorentz force from the unwanted capacitive feedthrough. The demonstrated 3-axis LFM exhibits measured magnetic responsivities of 1.74 ppm/mT, 1.83 ppm/mT and 6.75 ppm/mT in the x-, y- and z-axes, respectively, which are comparable to their capacitive counterparts.
RESUMEN
Neurosynovial tumors, originating from Schwann cells within nerve sheaths, are benign entities, with 25% to 45% manifesting in the head and neck region. However, occurrences in the pterygopalatine fossa (PPF) are exceptionally rare, and only a handful of cases have been documented. In this report, we present the unique case of a 6-year-old child exhibiting a sizable soft tissue mass in the left PPF, extending into the inferior orbital fissure. The patient underwent successful intranasal endoscopic removal of PPF schwannoma utilizing the prelacrimal recess approach, with postoperative pathology confirming the diagnosis of schwannoma. Schwannomas within the PPF are particularly uncommon, and instances of such tumors in pediatric patients are even more exceptional. This case highlights the diagnostic and therapeutic challenges associated with PPF schwannomas in children, emphasizing the significance of a multidisciplinary approach for optimal management. In addition, a comprehensive literature review is presented to provide insights into the existing knowledge on this rare entity, further contributing to the understanding of pediatric PPF schwannomas.
RESUMEN
Pleomorphic adenoma (PA) is the most prevalent benign tumor of the salivary glands, characterized by both epithelial and mesenchymal differentiation. It primarily originates within the parotid and submandibular glands, with only rare occurrences in the minor salivary glands. PA in the sinonasal area is extremely rare. Herein, we present a case of a 61-year-old female with a large soft tissue mass in the paranasal sinus and nasal cavity, as evidenced by computed tomography imaging. The patient suffered from repeated nasal congestion for more than 6 months. Eventually, the mass was completely resected using an endoscopic endonasal prelacrimal approach under general anesthesia. Postoperative pathological examination revealed the presence of PA in the nasal sinus.
RESUMEN
Salivary duct carcinoma (SDC) is an uncommon but highly aggressive tumor with a poor prognosis. SDC mainly arises from the major salivary glands, typically the parotid gland. Here, we report a rare case of sinonasal SDC in a 54-year-old male patient that might have originated from the inferior turbinate. The patient presented with left nasal congestion and rhinorrhea. Following an endoscopic intervention, the histopathological examination revealed a diagnosis of SDC, characterized by the formation of solid cancer nests and central comedo-type necrosis. Given the highly aggressive nature and unfavorable prognosis of SDC, it is essential to consider it as a differential diagnosis for unilateral nasal tumors.
RESUMEN
Synergistic phototherapy combining photodynamic therapy (PDT) and photothermal therapy (PTT) based on near-infrared (NIR) dyes using a single light source offers the opportunity to treat diseases at deep locations. In this study, we reported human serum albumin (HSA)-involving tetra(butylamino)phthalocyanine (Pc)-based nanomaterials of HSA-α-Pc and HSA-ß-Pc as highly efficient dual-phototherapy agents, namely 1(4),8(11),15(18),22(25)-tetra(butylamino)phthalocyanine (α-Pc) and 2(3),9(10),16(17),23(24)-tetra(butylamino)phthalocyanine (ß-Pc). Both HSA-α-Pc and HSA-ß-Pc showed excellent photothermal effects under a single NIR (808 nm) laser irradiation due to the S 1 fluorescence emission quenching of Pcs. Compared to HSA-ß-Pc, HSA-α-Pc exhibited better singlet oxygen generation ability and its highly efficient PDT/PTT dual-phototherapy was also well evidenced via in vitro and vivo experiments under a single 808 nm laser irradiation. Overall, this approach would be viable for the fabrication of more new Pc-based metal-free nano agents for PDT/PTT synergistic phototherapy upon a single NIR light source.
RESUMEN
Myeloid-derived suppressor cells (MDSCs), a heterogeneous population of myeloid cells, are characterized by their immunosuppressive abilities through the secretion of various cytokines such as inducible nitric oxide synthase, nitric oxide, reactive oxygen species, transforming growth factor-ß, and arginase-1. Accumulating evidence highlights its potential role in maintaining immune tolerance in solid organ and hematopoietic stem cell transplantation. Mechanistically, MDSCs-induced transplant tolerance is mainly dependent on direct suppression of allogeneic reaction or strengthened cross-talk between MDSCs and Treg or NKT cells. Adopted transfer of in vitro- or in vivo-induced MDSCs by special drugs therefore becomes a potential strategy for maintaining transplantation tolerance. In this review, we will summarize the previously published data about the role of MDSCs in the biology of transplantation tolerance and gain insights into the possible molecular mechanism governing this process.
Asunto(s)
Traslado Adoptivo/métodos , Rechazo de Injerto/prevención & control , Supervivencia de Injerto/inmunología , Células Supresoras de Origen Mieloide/inmunología , Tolerancia al Trasplante , Animales , Modelos Animales de Enfermedad , Rechazo de Injerto/inmunología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Células Supresoras de Origen Mieloide/trasplante , Trasplante de Órganos/efectos adversosRESUMEN
Allogeneic hematopoietic stem cell transplantation (Allo-HSCT) is the only curative treatment for multiple hematologic malignancies and non-malignant hematological diseases. However, graft-vs.-host disease (GVHD), one of the main complications after allo-HSCT, remains the major reason for morbidity and non-relapse mortality. Emerging evidence has demonstrated that innate lymphoid cells (ILCs) play a non-redundant role in the pathophysiology of GVHD. In this review, we will summarize previously published data regarding the role of ILCs in the pathogenesis of GVHD.
Asunto(s)
Susceptibilidad a Enfermedades , Enfermedad Injerto contra Huésped/genética , Enfermedad Injerto contra Huésped/metabolismo , Inmunidad Innata , Linfocitos/inmunología , Linfocitos/metabolismo , Biomarcadores , Plasticidad de la Célula/inmunología , Regulación de la Expresión Génica , Humanos , Inmunofenotipificación , Células Asesinas Naturales/inmunología , Células Asesinas Naturales/metabolismo , Linfocitos T/inmunología , Linfocitos T/metabolismo , Transcripción GenéticaRESUMEN
BACKGROUND: This protocol of systematic review aims to investigate the effectiveness of electrical stimulation (ES) on adverse events (AEs) caused by chemotherapy in patients with cervical cancer (CC). METHODS: This systematic review of randomized controlled trials will be identified through searchers of PUBMED, PsycINFO, Scopus, Opengrey, Cochrane Central Register of Controlled Trials, EMBASE, Cumulative Index to Nursing and Allied Health Literature, Web of Science, Allied and Complementary Medicine Database, and Chinese Biomedical Literature Database. All the sources will be searched from the inception to the date of study search ran. Additionally, websites of clinical trials registry and reference lists provided in relevant studies and reviews will also be searched. Two independent reviewers will evaluate the eligibility criteria of all potential literature, extract the data, and determine the risk of bias for each included study. RevMan 5.3 software will be used to pool the data and to conduct a meta-analysis. RESULTS: This systematic review will assess the effectiveness of ES on AEs caused by chemotherapy in patients with CC. CONCLUSION: The findings of this study may summarize the latest evidence for the ES on AEs following chemotherapy for CC. PROSPERO REGISTRATION NUMBER: PROSPERO CRD42019120191.
Asunto(s)
Antineoplásicos/efectos adversos , Terapia por Estimulación Eléctrica/métodos , Neoplasias del Cuello Uterino/tratamiento farmacológico , Antineoplásicos/uso terapéutico , Diarrea/inducido químicamente , Diarrea/terapia , Fatiga/inducido químicamente , Fatiga/terapia , Femenino , Humanos , Náusea/inducido químicamente , Náusea/terapia , Dolor/inducido químicamente , Ensayos Clínicos Controlados Aleatorios como Asunto , Proyectos de Investigación , Vómitos/inducido químicamente , Vómitos/terapiaRESUMEN
BACKGROUND: Totally laparoscopic distal gastrectomy (TLDG) has been developed in the hope of improving surgical quality and overcoming the limitations of conventional laparoscopic assisted distal gastrectomy (LADG) for gastric cancer. The aim of this study was to determine the extent of evidence in support of these ideals. METHODS: A systematic review of the two operation types (LADG and TLDG) was carried out to evaluate short-term outcomes including duration of operation, retrieved lymph nodes, estimated blood loss, resection margin status, technical postoperative complications, and hospital stay. RESULTS: Twelve non-randomized observational clinical studies involving 2,255 patients satisfied the eligibility criteria. Operative time was not statistically different between groups (P > 0.05). The number of retrieved lymph nodes and the resection margin length in TLDG were comparable with those in LADG. Estimated blood loss was significantly less in TLDG than that in LAG (P < 0.01). Compared to LADG, TLDG also involved lesser postoperative hospital stay (P < 0.01) and earlier time to soft diet intake (P < 0.05). Time to flatus and postoperative complications were similar for those two operative approaches. CONCLUSIONS: TLDG may be a technically safe, feasible, and favorable approach in terms of better cosmesis, less blood loss, and faster recovery compared with LADG.
Asunto(s)
Gastrectomía/métodos , Laparoscopía/estadística & datos numéricos , Neoplasias Gástricas/cirugía , Humanos , Tiempo de Internación , Complicaciones Posoperatorias , PronósticoRESUMEN
To evaluate the effects of glutamine-supplemented parenteral nutrition (PN) and probiotics in adult autoimmune enteropathy (AIE) patients. Four adult AIE patients were identified from April 2006 to January 2012. Clinical and nutritional data were obtained from the patients' medical records. Glutamine-supplemented PN started immediately when the AIE diagnosis was confirmed. The total PN duration was 351 days. According to the PN prescription, the average caloric intake ranged from 20 to 25 kcal/kg/day, and the protein intake ranged from 1.2 to 1.5 g/kg/day. Alanyl-glutamine (20 g/day) was administered to AIE patients for 4 weeks followed by a 2-week break, and this treatment schedule was repeated when PN lasted for more than 6 weeks. Body weight gain and an increased serum albumin level were achieved after PN, and defecation frequency and quality also improved. Each patient received oral supplements, 250 mL of Ensure and two probiotics capsules (each capsule containing 0.5×108 colonies) three times a day when enteral nutrition started. Three AIE patients were successfully weaned off PN, and one patient died of pneumonia. Glutamine-supplemented PN and probiotics show promise in managing patients with AIE and related malnutrition.
Asunto(s)
Glutamina/administración & dosificación , Nutrición Parenteral/métodos , Poliendocrinopatías Autoinmunes/terapia , Probióticos/administración & dosificación , Adulto , Bifidobacterium , Enterococcus faecalis , Femenino , Humanos , Lactobacillus acidophilus , Tiempo de Internación , Masculino , Desnutrición/terapia , Adulto JovenRESUMEN
BACKGROUND: GJA1 gene encodes a gap junction protein known as connexin 43 (Cx43). Cx43 is abundantly expressed in the ventricular myocardium and in cardiac neural crest cells. Cx43 is proposed to play an important role in human congenital heart disease, as GJA1 knock-out mice die neonatally from outflow tract obstruction. In addition, patients with visceroatrial heterotaxia or hypoplastic left heart syndrome were reported to have point mutations in GJA1 at residues that affect protein kinase phosphorylation and gating of the gap junction channel. However, as these clinical findings were not replicated in subsequent studies, the question remains about the contribution of GJA1 mutations in human congenital heart disease (CHD). MATERIALS AND METHODS: We analyzed the GJA1 coding sequence in 300 patients with CHD from two clinical centers, focusing on outflow tract anomalies. This included 152 with Tetralogy of Fallot from over 200 patients exhibiting outflow tract anomalies, as well as other structural heart defects including atrioventricular septal defects and other valvar anomalies. Our sequencing analysis revealed only two silent nucleotide substitutions in 8 patients. To further assess the possible role of Cx43 in CHD, we also generated two knock-in mouse models with point mutations at serine residues subject to protein kinase C or casein kinase phosphorylation, sites that are known to regulate gating and trafficking of Cx43, respectively. RESULTS: Both heterozygous and homozygous knock-in mice were long term viable and did not exhibit overt CHD. CONCLUSION: The combined clinical and knock-in mouse mutant studies indicate GJA1 mutation is not likely a major contributor to CHD, especially those involving outflow tract anomalies.
RESUMEN
OBJECTIVE: To observe the clinical effect of indwelling the anterior urethral stent in the treatment of anterior urethral stricture. METHODS: We included 38 patients with anterior urethral stricture in the treatment group, and another 38 in the control, the former treated by indwelling the anterior urethral stent, and the latter by urethral dilatation. Then we analyzed the clinical results by comparing the Qmax, urinary hesitancy and numbers of urethral dilations between the two groups. RESULTS: Compared with the controls, the patients of the treatment group showed an obvious increase in Qmax, a significant decrease in the number of urethral dilatations, and a marked improvement of the quality of life. Six months after the stent removal, there were significantly more patients with Qmax > 15 ml/s in the treatment group than in the control (P < 0.05). CONCLUSION: Indwelling the anterior urethral stent is a desirable option for the treatment of anterior urethral stricture, which is simple, safe, effective and reliable, and can be applied to general clinical practice.
Asunto(s)
Stents , Uretra/cirugía , Estrechez Uretral/cirugía , Adolescente , Adulto , Anciano , Niño , Preescolar , Humanos , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
Superoxide dismutases (SODs) play important role in stress tolerance of plants. In this study, an MnSOD gene (TaMnSOD) from Tamarix androssowii, under the control of the CaMV35S promoter, was introduced into poplar (Populus davidiana x P. bolleana). The physiological parameters, including SOD activity, malondialdehyde (MDA) content, relative electrical conductivity (REC) and relative weight gain, of transgenic lines and wild type (WT) plants, were measured and compared. The results showed that SOD activity was enhanced in transgenic plants, and the MDA content and REC were significantly decreased compared to WT plants when exposed to NaCl stress. In addition, the relative weight gains of the transgenic plants were 8- to 23-fold of those observed for WT plants after NaCl stress for 30 days. The data showed that the SOD activities that increased in transgenic lines are 1.3-4-folds of that increased in the WT plant when exposed to NaCl stress. Our analysis showed that increases in SOD activities as low as 0.15-fold can also significantly enhance salt tolerance in transgenic plants, suggesting an important role of increased SOD activity in plant salt tolerance
Asunto(s)
Populus/genética , Populus/fisiología , Tolerancia a la Sal/genética , Superóxido Dismutasa/genética , Tamaricaceae/genética , Conductividad Eléctrica , Regulación Enzimológica de la Expresión Génica , Regulación de la Expresión Génica de las Plantas , Genes de Plantas , Malondialdehído/metabolismo , Plantas Modificadas Genéticamente/genética , Plantas Modificadas Genéticamente/fisiología , Populus/enzimología , Populus/metabolismo , Estrés Fisiológico/genética , Superóxido Dismutasa/metabolismo , Superóxido Dismutasa/fisiología , Tamaricaceae/enzimología , Regulación hacia ArribaRESUMEN
BACKGROUND: Obesity has made obesity-related diseases a worldwide problem. This study was undertaken to evaluate the effects of diet-oriented intervention on obese children with hypertension in China and to determine the relationship between anthropometric indexes and hypertension. METHODS: A total of 469 obese children, aged 6 to 18 years, were evaluated between January 2001 and December 2005; 184 of them were diagnosed with hypertension. Hypertensive children were provided with individual diet-oriented intervention for more than 6 months. Physical exercises were recommended for obese children at least 30 minutes per day. Height, body weight, waist circumference, systolic blood pressure, and diastolic blood pressure were taken for each subject before and after intervention. RESULTS: Of the 184 children enrolled, 139 (75.5%; 86 boys) completed the study. Weight, body mass index (BMI), waist circumference, and hip circumference all decreased after a 6-month intervention, despite a 2.1 cm increase in height. Systolic and diastolic pressures decreased by 16.6 and 13.3 mmHg compared with baseline levels. Of the 139 children, 103 (74.1%) who had blood pressure in the normal range (<90th percentile for age and sex) were taken as a response group. The other 36 children who remained hypertensive showed no obvious differences in anthropometric measurements and were taken as a non-response group. Weight, BMI, BMI%, waist circumference, hip circumference and blood pressure in the 139 children showed significant differences after the intervention compared with baseline values. Weight, BMI, BMI%, waist circumference, and hip circumference were positively correlated with both systolic and diastolic blood pressures; they were correlated more strongly with systolic pressure than with diastolic pressure. CONCLUSIONS: Diet-oriented intervention can decrease blood pressure in most obese children with hypertension. Weight, height, BMI, BMI%, waist circumference, and hip circumference are closely associated with blood pressure.
Asunto(s)
Hipertensión/epidemiología , Obesidad/dietoterapia , Obesidad/epidemiología , Adolescente , Índice de Masa Corporal , Tamaño Corporal , Niño , China/epidemiología , Humanos , Obesidad/fisiopatologíaRESUMEN
Estrogens are known to play a role in the feedback regulation of pituitary gonadotropin secretion in adults. However, it is still unknown whether estrogens are involved in promoting pituitary development. In this study, we selected chick embryo as the animal model and microinjected different doses of estradiol (E2) at stage E27-28, which was when endogenous E2 was not detected. First, the results demonstrated that E2 at different doses promoted pituitary cell proliferation and gonadotroph differentiation. Lower doses of E2 had a more significant effect on cell proliferation, while higher doses of E2 were required for luteinizing hormone (LH) secreting cell differentiation. Furthermore, the levels of early growth response protein 1 (Egr-1) and GATA2 mRNAs were also elevated with E2 treatment at a higher dose than that required to increase the level of proliferating cell nuclear antigen (PCNA) in vitro. To investigate whether estrogen receptors (ERs) mediate these effects of estradiol, the ER antagonist ICI 182,780 was added, and the results showed that ICI 182,780 did not modify the enhancing effects of E2 on cell proliferation; however, it inhibited the stimulatory effect of E2 on LH secreting cell differentiation. These results suggest that E2 at different doses promotes pituitary cell proliferation and gonadotroph differentiation with different mechanisms. Our results are important to further understanding of the physiological and pharmacological functions and related mechanisms of estrogens and their receptors, although the related mechanism need to be elucidated in future studies.
Asunto(s)
Diferenciación Celular/efectos de los fármacos , Estradiol/farmacología , Gonadotrofos/citología , Gonadotrofos/efectos de los fármacos , Animales , Proliferación Celular/efectos de los fármacos , Embrión de Pollo , Relación Dosis-Respuesta a Droga , Estradiol/análogos & derivados , Receptor alfa de Estrógeno/metabolismo , Receptor beta de Estrógeno/metabolismo , Fulvestrant , Inmunohistoquímica , Antígeno Nuclear de Célula en Proliferación/metabolismo , Factores de Transcripción/metabolismoRESUMEN
OBJECTIVE: To investigate the effects of brain-derived neurotrophic factor (BDNF) on survival, migration and differentiation of neural stem cells (NSCs) transplanted into the brain of newborn rats with hypoxic-ischemic brain damage and the recovery of nervous functions. METHODS: The NSCs were separated from hippocampus of neonatal Wistar rats within 24 h after birth. Brdu, NSE and GFAP were used as markers of differentiation and proliferation of NSCs. The newborn rats were subjected to hypoxic-ischemic condition to induce brain damage. Seven days later, NSCs transplantation was performed for the animals. The rats were divided into normal control group, HIBD group, PBS group, NSCs transplantation group, BDNF group and BDNF + NSCs transplantation group randomly. At 4 weeks after transplantation the nervous function of rats was observed by Y-maze and nerve behavior test. After they were sacrificed, the rat brains were examined by immunocytochemistry for Brdu and by immunofluorescence for NSE/Brdu. RESULTS: The hippocampus NSCs of newborn rat could be well cultured and they expressed nestin and they could differentiate into NSE, GFAP. Most of NSCs survived in cerebral ventricle 4 weeks after transplantation in brain through Brdu immunocytochemistry and they migrated into regions of brain extensively, especially to the injured side of cortex and hippocampus. The number of living NSCs in the injured side of cortex and hippocampus of BDNF + NSCs transplantation group increased evidently and the percentage of NSCs differentiated into NSE was higher than that in the NSCs transplantation group (P < 0.05). The nerve function recovery of the rats in BDNF and NSCs treated group was significantly better than that in the other groups (P < 0.05). The NSCs group had no prominent changes as compared with the model groups (P > 0.05). CONCLUSIONS: NSCs can be isolated from newborn rats hippocampus and cultured in vivo. NSCs can survive, migrate and differentiate into neurons through cerebral ventricle. BDNF could significantly accelerate proliferation and differentiation of NSCs transplanted into the brain of rats with HIBD. The nervous function recovery was improved prominently by transplantation of NSCs with BDNF application, which may become a potentially effective method to treat HIBD.
Asunto(s)
Factor Neurotrófico Derivado del Encéfalo/uso terapéutico , Hipoxia-Isquemia Encefálica/terapia , Células-Madre Neurales/trasplante , Trasplante de Células Madre , Animales , Animales Recién Nacidos , Ventrículos Laterales , Ratas , Ratas WistarRESUMEN
LIM homeodomain proteins Islet-1 and Lim-3 expression and their role in nervous tissue and endocrine glands have been reported; however, nothing is known concerning Islet-1 and Lim-3 expression in the developing pineal gland of the chick embryo. The aim of the present study was to determine the ontogeny of Islet-1 and Lim-3 expression in the developing pineal gland of chick embryo using immunohistochemistry. The results showed that Islet-1 and Lim-3 immunopositive cells were first detected in the pineal evagination of chick embryos at day 4 (E4) and E4.5 of incubation, respectively. In the later developing stages, both Islet-1 and Lim-3 immunopositive cells were consistently detected in the follicular and parafollicular pinealocytes throughout the pineal gland. The relative percentage of Islet-1 immunopositive (Islet-1+) cells relative to the total cells was about 6% at E4.5, and then kept increasing (P < 0.05) and reached about 40% by E12.5; this was followed by no obvious changes until the chicks were newly hatched. The change in Lim-3 immunopositive (Lim-3+) cell number was parallel to that of Islet-1, although Lim-3+ cell were significantly fewer than Islet-1+ cell numbers from E4.5 to E8.5 (P < 0.05). Dual immunohistochemical staining results showed that almost all the Lim-3+ cells expressed Islet-1 at every stage examined, and about 90% of Islet-1+ cells were proliferating cell nuclear antigen negative. These results suggest that both Islet-1 and Lim-3 may be involved in regulating the development and functional maturation of the pineal gland, although further studies are required in elucidating the functional roles of Islet-1 and Lim-3 and the related mechanisms.
Asunto(s)
Proteínas de Homeodominio/genética , Proteínas del Tejido Nervioso/genética , Glándula Pineal/embriología , Animales , Embrión de Pollo , Proteínas de Homeodominio/biosíntesis , Inmunohistoquímica , Proteínas con Homeodominio LIM , Proteínas del Tejido Nervioso/biosíntesis , Glándula Pineal/metabolismo , Factores de TranscripciónRESUMEN
We used non-invasive high frequency ultrasound to screen N-ethyl-N-nitrosourea mutagenized mouse fetuses for congenital cardiovascular anomalies. We ultrasound scanned 7546 mouse fetuses from 262 mutagenized families, and identified 124 families with cardiovascular defects. Represented were most of the major congenital cardiovascular anomalies seen clinically. The ENU-induced mutations in several families were mapped using polymorphic microsatellite DNA markers. One family with forelimb anomalies and ventricular septal defects, phenotypes similar to Holt-Oram syndrome, and one family with transposition of the great arteries and heart situs anomalies were mapped to different regions of mouse chromosome 4. A third mutation causing persistent truncus arteriosus and craniofacial defects, phenotypes reminiscent of DiGeorge syndrome, was mapped to mouse chromosome 2. We note that mouse chromosomes 4 and 2 do not contain Tbx5 or Tbx1, genes previously linked to Holt-Oram and DiGeorge syndromes, respectively. In two other families, the ENU-induced mutation was identified--Sema3CL605P was associated with persistent truncus arteriosus with interrupted aortic arch, and the Gja1W45X connexin43 mutation caused conotruncal malformation and coronary aneurysms. Although our screen was designed as a recessive screen, a number of the mutations showed cardiovascular phenotypes in both heterozygote and homozygote animals. These studies show the efficacy of ENU mutagenesis and high-throughput ultrasound phenotyping in recovering mutations causing a wide spectrum of congenital heart defects. These ENU-induced mutations hold promise in yielding new insights into the genetic basis for human congenital heart disease.
Asunto(s)
Síndrome de DiGeorge/genética , Etilnitrosourea/toxicidad , Feto/anomalías , Cardiopatías Congénitas/genética , Mutación/efectos de los fármacos , Secuencia de Aminoácidos , Animales , Cromosomas de los Mamíferos/genética , Conexina 43/genética , Síndrome de DiGeorge/diagnóstico por imagen , Femenino , Cardiopatías Congénitas/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/genética , Ratones , Datos de Secuencia Molecular , Proteínas de Dominio T Box/genética , Tronco Arterial Persistente/diagnóstico por imagen , Tronco Arterial Persistente/genética , UltrasonografíaRESUMEN
A novel protein with ATPase activity was purified from the cytoplasmic extracts of maize pollen by acetone precipitation, ammonium sulfate fractionation, followed by DEAE-Sephadex A(50) and Mono S ion-exchange chromatography. The molecular weight was about 28 kD as determined by SDS-PAGE and the isoelectric point was pH 8.3 by IEF-PAGE. Western blotting analysis showed the 28 kD protein had no specific immuno-reactions with the anti-kinesin monoclonal or the anti-dynamin polyclonal antibodies. The maximum ultraviolet absorbance was at 278 nm, CD spectrum analysis showed the that 28 kD protein with the feature of a globulin. Pharmacological studies indicated that the enzyme activity was strongly inhibited by Na(3)VO(4) but insensitive to NEM. It was inhibited about 50% by NaF. Oligomycin, KNO(3) and ouabain had no effects on its ATPase activity.