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1.
Sci Rep ; 13(1): 12781, 2023 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-37550337

RESUMO

This contribution discusses surrogate models that emulate the solution field(s) in the entire simulation domain. The surrogate uses the most characteristic modes of the solution field(s), in combination with neural networks to emulate the coefficients of each mode. This type of surrogate is well known to rapidly emulate flow simulations, but rather new for simulations of elastoplastic solids. The surrogate avoids the iterative process of constructing and solving the linearized governing equations of rate-independent elastoplasticity, as necessary for direct numerical simulations or (hyper-)reduced-order-models. Instead, the new plastic variables are computed only once per increment, resulting in substantial time savings. The surrogate uses a recurrent neural network to treat the path dependency of rate-independent elastoplasticity within the neural network itself. Because only a few of these surrogates have been developed for elastoplastic simulations, their potential and limitations are not yet well studied. The aim of this contribution is to shed more light on their numerical capabilities in the context of elastoplasticity. Although more widely applicable, the investigation focuses on a representative volume element, because these surrogates have the ability to both emulate the macroscale stress-deformation relation (which drives the multiscale simulation), as well as to recover all microstructural quantities within each representative volume element.

2.
ACS Appl Mater Interfaces ; 15(12): 15290-15297, 2023 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-36940415

RESUMO

Halide perovskite solar cells (PSCs) represent a low-cost and high-efficiency solar technology. However, most of the highly efficient PSCs need a noble electrode, such as Au, through thermal evaporation. It is reported that a sputtered Au electrode on a PSC could damage the organic hole transport layer (HTL) and the perovskite layer. Here, we report a simple, yet effective sputtered gold nanoparticle decorated carbon electrode to fabricate efficient and stable planar PSCs. The sputtered Au layer on the doctor-bladed coated carbon electrode can be directly applied to the perovskite semicells by mechanical stacking. By optimizing the gold thickness, a power conversion efficiency (PCE) of 16.87% was obtained for the composite electrode-based PSC, while the reference device recorded a PCE of 12.38%. The composite electrode-based device demonstrated 96% performance retention after being stored under humid conditions (50-60%) without encapsulation for ∼100 h. This demonstrates a promising pathway toward the commercialization of large-scale manufacturable sputtered electrodes for the PSC solar module.

3.
Nanomaterials (Basel) ; 10(7)2020 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-32650438

RESUMO

Solar thermal techniques provide a promising method for the direct conversion of solar energy to thermal energy for applications, such as water desalination. To effectively realize the optimal potential of solar thermal conversion, it is desirable to construct an assembly with localized heating. Specifically, photoactive semiconducting nanoparticles, when utilized as independent light absorbers, have successfully demonstrated the ability to increase solar vapor efficiency. Additionally, bio-based fibers have shown low thermal conductive photocorrosion. In this work, cellulose acetate (CA) fibers were loaded with cadmium selenide (CdSe) nanoparticles to be employed for solar thermal conversion and then subsequently evaluated for both their resulting morphology and conversion potential and efficiency. Electrospinning was employed to fabricate the CdSe-loaded CA fibers by adjusting the CA/CdSe ratio for increased solar conversion efficiency. The microstructural and chemical composition of the CdSe-loaded CA fibers were characterized. Additionally, the optical sunlight absorption performance was evaluated, and it was demonstrated that the CdSe nanoparticles-loaded CA fibers have the potential to significantly improve solar energy absorption. The photothermal conversion under 1 sun (100 mW/cm2) demonstrated that the CdSe nanoparticles could increase the temperature up to 43 °C. The CdSe-loaded CA fibers were shown as a feasible and promising hybrid material for achieving efficient solar thermal conversion.

4.
Ultrasound Obstet Gynecol ; 56(6): 934-943, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-31975482

RESUMO

OBJECTIVES: To describe the clinical and ultrasound characteristics of adnexal torsion. METHODS: This was a retrospective study. From the operative records of the eight participating gynecological ultrasound centers, we identified patients with a surgically confirmed diagnosis of adnexal torsion, defined as surgical evidence of ovarian pedicle, paraovarian cyst and/or Fallopian tube twisted on its own axis, who had undergone preoperative ultrasound examination by an experienced examiner, between 2008 and 2018. Only cases with at least two available ultrasound images and/or videoclips (one grayscale and one with Doppler evaluation) were included. Clinical, ultrasound, surgical and histological information was retrieved from each patient's medical record and entered into an Excel file by the principal investigator at each center. In addition, two authors reviewed all available ultrasound images and videoclips of the twisted adnexa, with regard to the presence of four predefined ultrasound features reported to be characteristic of adnexal torsion: (1) ovarian stromal edema with or without peripherally displaced antral follicles, (2) the follicular ring sign, (3) the whirlpool sign and (4) absence of vascularization in the twisted organ. RESULTS: A total of 315 cases of adnexal torsion were identified. The median age of the patients was 30 (range, 1-88) years. Most patients were premenopausal (284/314; 90.4%) and presented with acute or subacute pelvic pain (305/315; 96.8%). The surgical approach was laparoscopic in 239/312 (76.6%) patients and conservative surgery (untwisting with or without excision of a lesion) was performed in 149/315 (47.3%) cases. According to the original ultrasound reports, the median largest diameter of the twisted organ was 83 (range, 30-349) mm. Free fluid in the pouch of Douglas was detected in 196/275 (71.3%) patients. Ovarian stromal edema with or without peripherally displaced antral follicles was reported in the original ultrasound report in 167/241 (69.3%) patients, the whirlpool sign in 178/226 (78.8%) patients, absent color Doppler signals in the twisted organ in 119/269 (44.2%) patients and the follicular ring sign in 51/134 (38.1%) patients. On retrospective review of images and videoclips, ovarian stromal edema with or without peripherally displaced antral follicles (201/254; 79.1%) and the whirlpool sign (139/153; 90.8%) were the most commonly detected features of adnexal torsion. CONCLUSION: Most patients with surgically confirmed adnexal torsion are of reproductive age and present with acute or subacute pain. Common ultrasound signs are an enlarged adnexa, the whirlpool sign, ovarian stromal edema with or without peripherally displaced antral follicles and free fluid in the pelvis. The follicular ring sign and absence of Doppler signals in the twisted organ are slightly less common signs. Recognizing ultrasound signs of adnexal torsion is important so that the correct treatment, i.e. surgery without delay, can be offered. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Anexos Uterinos/diagnóstico por imagem , Torção Ovariana/diagnóstico por imagem , Ultrassonografia Doppler/estatística & dados numéricos , Anexos Uterinos/anormalidades , Anexos Uterinos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Torção Ovariana/patologia , Dor Pélvica/diagnóstico por imagem , Dor Pélvica/etiologia , Dor Pélvica/patologia , Estudos Retrospectivos , Ultrassonografia Doppler/métodos , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/patologia , Útero/anormalidades , Útero/diagnóstico por imagem , Útero/patologia
5.
Mol Hum Reprod ; 25(4): 171-183, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30824926

RESUMO

In mouse and bovine sperm, GSK3 activity is inversely proportional to motility. Targeted disruption of the GSK3A gene in testis results in normal spermatogenesis, but mature sperm present a reduced motility, rendering male mice infertile. On the other hand, GSK3B testis-specific KO is fertile. Yet in human sperm, an isoform-specific correlation between GSK3A and sperm motility was never established. In order to analyze GSK3 function in human sperm motility, normospermic and asthenozoospermic samples from adult males were used to correlate GSK3 expression and activity levels with human sperm motility profiles. Moreover, testicular and sperm GSK3 interactomes were identified using a yeast two-hybrid screen and coimmunoprecipitation, respectively. An extensive in-silico analysis of the GSK3 interactome was performed. The results proved that inhibited GSK3A (serine phosphorylated) presents a significant strong positive correlation (r = 0.822, P = 0.023) with the percentage of progressive human sperm, whereas inhibited GSK3B is not significantly correlated with sperm motility (r = 0.577, P = 0.175). The importance of GSK3 in human sperm motility was further reinforced by in-silico analysis of the GSK3 interactome, which revealed a high level of involvement of GSK3 interactors in sperm motility-related functions. The limitation of techniques used for GSK3 interactome identification can be a drawback, since none completely mimics the physiological environment. Our findings prove that human sperm motility relies on isoform-specific functions of GSK3A within this cell. Given the reported relevance of GSK3 protein-protein interactions in sperm motility, we hypothesized that they stand as potential targets for male contraceptive strategies based on sperm motility modulation.


Assuntos
Astenozoospermia/genética , Fertilidade/genética , Quinase 3 da Glicogênio Sintase/genética , Processamento de Proteína Pós-Traducional , Motilidade dos Espermatozoides/genética , Espermatogênese/genética , Espermatozoides/enzimologia , Adulto , Animais , Astenozoospermia/enzimologia , Astenozoospermia/fisiopatologia , Bovinos , Expressão Gênica , Perfilação da Expressão Gênica , Quinase 3 da Glicogênio Sintase/metabolismo , Humanos , Isoenzimas/genética , Isoenzimas/metabolismo , Masculino , Camundongos , Fosforilação , Ligação Proteica , Mapeamento de Interação de Proteínas , Espermatozoides/patologia , Testículo/enzimologia , Testículo/patologia
6.
Nanotechnology ; 29(17): 175401, 2018 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-29424701

RESUMO

The present study elucidates dispersive electron transport mediated by surface states in tin oxide (SnO2) nanoparticle-based dye sensitized solar cells (DSSCs). Transmission electron microscopic studies on SnO2 show a distribution of ∼10 nm particles exhibiting (111) crystal planes with inter-planar spacing of 0.28 nm. The dispersive transport, experienced by photo-generated charge carriers in the bulk of SnO2, is observed to be imposed by trapping and de-trapping processes via SnO2 surface states present close to the band edge. The DSSC exhibits 50% difference in performance observed between the forward (4%) and reverse (6%) scans due to the dispersive transport characteristics of the charge carriers in the bulk of the SnO2. The photo-generated charge carriers are captured and released by the SnO2 surface states that are close to the conduction band-edge resulting in a very significant variation; this is confirmed by the hysteresis observed in the forward and reverse scan current-voltage measurements under AM1.5 illumination. The hysteresis behavior assures that the charge carriers are accumulated in the bulk of electron acceptor due to the trapping, and released by de-trapping mediated by surface states observed during the forward and reverse scan measurements.

7.
Oncogene ; 37(7): 839-846, 2018 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-29059163

RESUMO

Cellular transformation and the accumulation of genomic instability are the two key events required for tumorigenesis. K-Ras (Kirsten-rat sarcoma viral oncogene homolog) is a prominent oncogene that has been proven to drive tumorigenesis. K-Ras also modulates numerous genetic regulatory mechanisms and forms a large tumorigenesis network. In this review, we track the genetic aspects of K-Ras signaling networks and assemble the sequence of cellular events that constitute the tumorigenesis process, such as regulation of K-Ras expression (which is influenced by miRNA, small nucleolar RNA and lncRNA), activation of K-Ras (mutations), generation of reactive oxygen species (ROS), induction of DNA damage and apoptosis, induction of DNA damage repair pathways and ROS detoxification systems, cellular transformation after apoptosis by the blebbishield emergency program and the accumulation of genomic/chromosomal instability that leads to tumorigenesis.


Assuntos
Carcinogênese/patologia , Genes ras , Instabilidade Genômica , Neoplasias/patologia , Animais , Carcinogênese/genética , Humanos , Neoplasias/genética , Transdução de Sinais
8.
Indian J Radiol Imaging ; 27(1): 70-72, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28515590

RESUMO

Here, we report a fetus with a rare aortic arch anomaly with left aortic arch and right ductus arteriosus, which has not been reported so far. In this condition, the aorta extends to the left of the trachea as in normal, while the ductus arteriosus extends to the right of the trachea and joins the descending aorta posterior to the trachea, with a cross-ribbon sign.

9.
Mol Genet Metab Rep ; 12: 2-7, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28243577

RESUMO

OBJECTIVES: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect of idursulfase-specific antibody generation on treatment safety (via infusion-related adverse events [IRAEs]) and pharmacodynamics (via urinary glycosaminoglycans [uGAGs]). METHODS: Male patients ≥ 5 years, enrolled in HOS regardless of idursulfase treatment status were eligible. Blood/urine samples for anti-idursulfase antibody testing and uGAG measurement were collected every 12 weeks. RESULTS: Due to difficulties in enrolling treatment-naïve patients, data collection was limited to 26 enrolled patients of 100 planned patients (aged 5.1-35.5 years) all of whom were non-naïve to treatment. Fifteen (58%) patients completed the study. There were 11/26 (42%) seropositive patients at baseline (Ab +), and 2/26 (8%) others developed intermittent seropositivity by Week 13. A total of 9/26 patients (35%) had ≥ 1 sample positive for neutralizing antibodies. Baseline uGAG levels were low due to prior idursulfase treatment and did not change appreciably thereafter. Ab + patients had persistently higher uGAG levels at entry and throughout the study than Ab - patients. Nine of 26 (34%) patients reported IRAEs. Ab + patients appeared to have a higher risk of developing IRAEs than Ab - patients. However, the relative risk was not statistically significant and decreased after adjustment for age. CONCLUSIONS: 50% of study patients developed idursulfase antibodies. Notably Ab + patients had persistently higher average uGAG levels. A clear association between IRAEs and antibodies was not established.

10.
Indian J Radiol Imaging ; 23(2): 179-82, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24082486

RESUMO

Agenesis of dorsal pancreas is an extremely rare congenital anomaly that occurs due to failure of the dorsal pancreatic bud to form the body and tail of the pancreas. We report the sonographic appearance of this condition in six cases.

11.
Indian J Radiol Imaging ; 21(2): 134-41, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21799597

RESUMO

OBJECTIVE: To evaluate the value of USG as a diagnostic tool to locate nonpalpable testis (NPT), using a new technique of tracking the spermatic cord. MATERIALS AND METHODS: This technique was used in 197 instances of NPT over a period of 7 years. The presence or absence of the cord in the inguinal canal was recorded. The visualized spermatic cord was tracked down to the testis in extra-abdominal location. If spermatic cord was not visualized, the USG was extended up to look for intra-abdominal testis. The location and size of the testis were recorded, and the findings were compared with those seen at surgery. RESULTS: The status of NPT was predicted by sonography in 191 instances. The testis was canalicular in position in 53, abdominal in 76, ascending in 5, ectopic in 8, and moving in 5 cases. There were three instances of tumor in the NPT and one case of torsion. The testes were atrophic in 36 instances. The testis was not visualized by USG in 10 instances. In four of them, spermatic cord was seen in inguinal canal, indicating vanished testes. In one patient, there was an atrophic testis with inguinal hernia. Diagnostic laparoscopy was necessary in only five cases and showed abdominal testes in two cases and the cord entering the internal ring in three cases. There were one false-positive and four false-negative results with this technique. CONCLUSION: USG, with the tracking the cord technique, is a sensitive diagnostic tool in NPT. It is useful for selecting the ideal therapeutic surgical approach and helps avoid diagnostic laparoscopy in most of the patients.

12.
J Ultrasound Med ; 30(1): 37-45, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21193703

RESUMO

OBJECTIVES: The purpose of this study was to describe the sonographic appearance of the fetal anus and its usefulness in diagnosis of anal atresia. METHODS: An anomaly scan was performed in 13,150 patients over 8 years. Gestational ages ranged from 16 to 38 weeks. A tangential scan of the fetal perineum was performed. The anus was seen as a hypoechoic ring representing the wall of the anal canal with a central echogenic dot representing the lumen. This appearance was seen posterior to the external genitalia. If there was failure to see this appearance, a coronal scan of the fetal pelvis was done to look for the anal canal in contiguity with the rectum and to confirm its extension up to perineum. Failure to see these two features was considered diagnostic of anal atresia. RESULTS: On the basis of these criteria, anal atresia was diagnosed in 17 fetuses. Sixteen of these fetuses also had other associated anomalies. The appearance of the anus was useful for ruling out anal atresia in 2 fetuses with a dilated colon containing echogenic meconium balls. CONCLUSIONS: The anus is visible on a tangential scan of the fetal perineum. It can be seen routinely during an anomaly scan to diagnose or rule out anal atresia.


Assuntos
Ultrassonografia Pré-Natal/métodos , Canal Anal/diagnóstico por imagem , Canal Anal/embriologia , Malformações Anorretais , Anus Imperfurado/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Gravidez , Estudos Prospectivos
13.
J Ultrasound Med ; 28(5): 657-62, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19389905

RESUMO

OBJECTIVE: The purpose of this series is to describe the sonographic features of isolated torsion of the fallopian tube. METHODS: Sonography was performed in 4 women with acute lower abdominal pain. RESULTS: The uterus and ovaries were normal in the 4 women. The ipsilateral fallopian tube was distended with fluid. A round mass was seen close to the tube. A sonographic whirlpool sign was seen on rocking movement of the probe over the mass. Ipsilateral torsion of the fallopian tube was confirmed at surgery in all of them. CONCLUSION: The sonographic whirlpool sign is the specific sign of tubal torsion.


Assuntos
Doenças das Tubas Uterinas/diagnóstico por imagem , Tubas Uterinas/diagnóstico por imagem , Anormalidade Torcional/diagnóstico por imagem , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Ultrassonografia
15.
J Plast Reconstr Aesthet Surg ; 62(10): 1277-80, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-18760683

RESUMO

The tongue is the most commonly involved structure in cancer of the oral cavity. For locally advanced tumours, adequate resection necessitates near total or total glossectomy. Such patients pose a unique surgical challenge because of the potential for severe speech and swallowing disruption and life-threatening aspiration. These patients also undergo radiotherapy, leading to xerostomia with associated poor quality of life. Present day techniques use dynamic muscles or musculocutaneous flaps for reconstruction of such defects which, although providing adequate glossopalatal contact and tongue movements, are still far from achieving normal tongue appearance and have no intrinsic secretory capability. We have tried to circumvent this problem by using two different free flaps simultaneously, the gracilis muscle to work as functional motor unit for providing tongue movements and elevation together with free stomach, turned inside-out, as an added source of secretion for dry mouth and attached omentum for providing adequate bulk. This technique has been used in two patients over the last 18 months with satisfactory functional and aesthetic results.


Assuntos
Carcinoma de Células Escamosas/cirurgia , Glossectomia/métodos , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos , Neoplasias da Língua/cirurgia , Adulto , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/radioterapia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/transplante , Omento/transplante , Recuperação de Função Fisiológica , Saliva/metabolismo , Estômago/transplante , Língua/cirurgia , Neoplasias da Língua/patologia , Neoplasias da Língua/radioterapia
16.
Curr Med Chem ; 15(28): 2921-32, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19075644

RESUMO

The neuronal nicotinic receptor has gained considerable recognition as a target, not just for combating drug addiction but also for treating a number of illnesses ranging from neurodegenerative diseases to psychotic disorders like schizophrenia. This recognition has led to a burgeoning field examining the receptor at all levels. A class of nicotinic receptors that contains the alpha7 gene product, apparently as a homomer, illustrates this multidisciplinary approach. Here, we review recent progress in our understanding of this class of receptors based on data from molecular, structural, physiological and patho-physiological studies. These studies have set the stage for rational drug design to combat disorders of the central nervous system. The studies also exemplify the cautious approach needed in developing CNS therapies and the importance of physiology in tempering drug design.


Assuntos
Doenças do Sistema Nervoso Central/tratamento farmacológico , Química Farmacêutica/métodos , Desenho de Fármacos , Receptores Nicotínicos/química , Receptores Nicotínicos/genética , Receptores Nicotínicos/fisiologia , Sítio Alostérico , Animais , Sistema Enzimático do Citocromo P-450/química , Humanos , Ligantes , Modelos Biológicos , Modelos Químicos , Mutagênese Sítio-Dirigida , Ligação Proteica , Transdução de Sinais , Fumar , Receptor Nicotínico de Acetilcolina alfa7
17.
FEBS Lett ; 581(27): 5213-9, 2007 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-17950289

RESUMO

Our previous study documented expression of a male-transmitted cytochrome c oxidase subunit II protein (MCOX2), with a C-terminus extension (MCOX2e), in unionoidean bivalve testes and sperm mitochondria. Here, we present evidence demonstrating that MCOX2 is seasonally expressed in testis, with a peak shortly before fertilization that is independent of sperm density. MCOX2 is localized to the inner and outer sperm mitochondrial membranes and the MCOX2 antibody's epitope is conserved across >65 million years of evolution. We also demonstrate the presence of male-transmitted mtDNA and season-specific MCOX2 spatial variation in ovaries. We hypothesize that MCOX2 plays a role in reproduction through gamete maturation, fertilization and/or embryogenesis.


Assuntos
Complexo IV da Cadeia de Transporte de Elétrons/genética , Complexo IV da Cadeia de Transporte de Elétrons/fisiologia , Óvulo/enzimologia , Espermatozoides/enzimologia , Unionidae/genética , Unionidae/fisiologia , Animais , DNA Mitocondrial/genética , DNA Mitocondrial/metabolismo , Complexo IV da Cadeia de Transporte de Elétrons/química , Evolução Molecular , Feminino , Masculino , Microscopia Eletrônica , Reprodução/genética , Reprodução/fisiologia , Estações do Ano , Distribuição Tecidual
18.
Soc Reprod Fertil Suppl ; 63: 123-33, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17566267

RESUMO

The t complex, a variant region of chromatin occupying approximately 40-million base pairs of proximal chromosome 17, exists in natural populations of wild mice of the Mus musculus species as a family of homologues called t haplotypes (t). Relative to wild-type (+) homologues, all t haplotypes share four large non-overlapping inversions, spanning 95% of the region, leading to intra-inversion recombination suppression in +/t heterozygotes. Non-lethal t homozygous males or complementing recessive lethal t doubly heterozygous males (hereafter both abbreviated "t/t males") are invariably and completely sterile, due to expression of several sperm function abnormalities. One of these traits, "curlicue", describes a condition in which spermatozoa from t/t males fail to reach the site of fertilization in vivo because they exhibit a severe loss of vigorous forward motility due to the chronic negative curvature of their flagella. Current data indicate that "curlicue" is the complex phenotypic reflection of the expression of three or more mutations clustered in the distal one-third of the largest and most-distal t complex inversion, In(17)4. From proximal to distal, candidates include Dnahc8, Tsga2 and Tctex5. Interestingly, new results from high-resolution intra-inversion genetic mapping and protein localization studies suggest that the products of the distal two candidates, Tsga2 and Tctex5, might play synergic roles in the expression of both the "curlicue" motility abnormality and the "stop" sperm-egg interaction aberration, regarded as functionally unrelated traits.


Assuntos
Infertilidade Masculina/imunologia , Proteínas Associadas aos Microtúbulos/imunologia , Proteínas Nucleares/imunologia , Motilidade dos Espermatozoides/imunologia , Animais , Haplótipos , Homozigoto , Infertilidade Masculina/genética , Infertilidade Masculina/patologia , Masculino , Camundongos , Proteínas Associadas aos Microtúbulos/genética , Mutação , Proteínas Nucleares/genética , Proteína Fosfatase 1 , Análise de Sequência de DNA , Cauda do Espermatozoide/patologia , Ubiquitina-Proteína Ligases , Região do Complexo-t do Genoma
19.
Ultrasound Obstet Gynecol ; 29(3): 347-51, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17323302

RESUMO

We describe the technique of fetal perineal sonography and its use in the diagnosis of ectopic ureteric opening. Using a high-frequency probe, sagittal ultrasound imaging of the fetal perineum, pelvis and external genitalia was performed and proved useful in the diagnosis of ectopic ureteric opening into the urethra in one female and two male fetuses.


Assuntos
Doenças Fetais/diagnóstico por imagem , Períneo/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Ureter/anormalidades , Adolescente , Adulto , Feminino , Idade Gestacional , Humanos , Hidronefrose/diagnóstico por imagem , Hidronefrose/etiologia , Recém-Nascido , Masculino , Gravidez , Ureter/diagnóstico por imagem , Ureter/cirurgia
20.
Neurology ; 68(2): 99-109, 2007 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-17151339

RESUMO

BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease. METHODS: Patients were diagnosed at 6 months of age and younger and exhibited severe GAA deficiency and cardiomyopathy. Patients received IV infusions of rhGAA at 20 mg/kg (n = 9) or 40 mg/kg (n = 9) every other week. Analyses were performed 52 weeks after the last patient was randomized to treatment. RESULTS: All patients (100%) survived to 18 months of age. A Cox proportional hazards analysis demonstrated that treatment reduced the risk of death by 99%, reduced the risk of death or invasive ventilation by 92%, and reduced the risk of death or any type of ventilation by 88%, as compared to an untreated historical control group. There was no clear advantage of the 40-mg/kg dose with regard to efficacy. Eleven of the 18 patients experienced 164 infusion-associated reactions; all were mild or moderate in intensity. CONCLUSIONS: Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. Eleven patients experienced adverse events related to treatment, but none discontinued. The young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acid alpha-glucosidase in which patients were older.


Assuntos
Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , Doença de Depósito de Glicogênio Tipo II/mortalidade , Cuidados Paliativos/estatística & dados numéricos , Medição de Risco/métodos , Assistência Terminal/estatística & dados numéricos , alfa-Glucosidases/administração & dosagem , Relação Dose-Resposta a Droga , Europa (Continente)/epidemiologia , Humanos , Lactente , Recém-Nascido , Israel/epidemiologia , Análise de Sobrevida , Taxa de Sobrevida , Taiwan/epidemiologia , Resultado do Tratamento , Estados Unidos/epidemiologia
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