RESUMO
This review aimed, as part of a larger FIFA project aiming to steer women's football research, to scope literature on any level of competitive football for women, to understand the current quantity of research on women's football injuries. The study reviewed all injury-related papers scoped by a recent scoping review mapping all published women's football research with an updated search performed on 23 February 2021. Eligibility criteria assessment followed the recent scoping review with injury-specific research focus. A total of 497 studies were scoped. Most studies contained an epidemiological (N = 226; 45%) or risk factors assessment (N = 105; 21%). Less assessed areas included financial burden (N = 1; <1%) and injury awareness (N = 5; 1%). 159 studies (32%) assessed injuries of the whole body. The most common single location assessed in the literature was the knee (N = 134, 27%), followed by head/face (N =108, 22%). These numbers were, however, substantially lowered, when subdivided by playing level and age-group. The volume of research focuses especially on descriptive research and specific body locations (head/face and knee). Although information can be taken from studies in other sports, more football-specific studies to support management and prevention of injuries are warranted.
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The treatment of warts has always been a challenging prospect for dermatologists. In some cases, these warts can become resistant or recalcitrant to treatment. Although a plethora of therapeutic and destructive options is available for wart management, to date no treatment has been found to be completely effective because none of the agents induce specific antiviral immunity. We conducted a study to evaluate the efficacy and safety of skin needling with topical 100% trichloroacetic acid (TCA) against the same type of skin needling with bleomycin in patients with recalcitrant cutaneous warts. In total, 33 (63.5%) patients in the TCA group and 35 (81.4%) in the bleomycin group had complete clearance of all the warts, which was not statistically significant (P = 0.13). There was also no statistically significant difference between the treated and untreated warts in the bleomycin group, whereas in the TCA group there was a significantly higher response rate in the treated warts. The most common adverse event (AE) in both groups was transient procedure site pain. We found that the use of needling plus TCA leads to a faster resolution of warts compared with needling plus bleomycin, with a comparable safety profile. Additionally, we found that TCA is superior to bleomycin for management of multiple warts. However, needling with either TCA or bleomycin has excellent and fairly comparable efficacy, and these methods should be used for the management of multiple or recalcitrant warts, as they have minimal AEs and recurrence rates.
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Ácido Tricloroacético , Verrugas , Administração Cutânea , Bleomicina/efeitos adversos , Bleomicina/uso terapêutico , Humanos , Injeções Intralesionais , Resultado do Tratamento , Ácido Tricloroacético/efeitos adversos , Verrugas/tratamento farmacológico , Verrugas/etiologiaRESUMO
BACKGROUND: Although the Barcelona Clinic Liver Cancer (BCLC) staging system has been largely adopted in clinical practice, recent studies have emphasized the need for further refinement and subclassification of this system. METHODS: Patients who underwent hepatectomy with curative intent for BCLC-0, -A or -B hepatocellular carcinoma (HCC) between 2000 and 2017 were identified using a multi-institutional database. The tumour burden score (TBS) was calculated, and overall survival (OS) was examined in relation to TBS and BCLC stage. RESULTS: Among 1053 patients, 63 (6·0 per cent) had BCLC-0, 826 (78·4 per cent) BCLC-A and 164 (15·6 per cent) had BCLC-B HCC. OS worsened incrementally with higher TBS (5-year OS 77·9, 61 and 39 per cent for low, medium and high TBS respectively; P < 0·001). No differences in OS were noted among patients with similar TBS, irrespective of BCLC stage (61·6 versus 58·9 per cent for BCLC-A/medium TBS versus BCLC-B/medium TBS, P = 0·930; 45 versus 13 per cent for BCLC-A/high TBS versus BCLC-B/high TBS, P = 0·175). Patients with BCLC-B HCC and a medium TBS had better OS than those with BCLC-A disease and a high TBS (58·9 versus 45 per cent; P = 0·005). On multivariable analysis, TBS remained associated with OS among patients with BCLC-A (medium TBS: hazard ratio (HR) 2·07, 95 per cent c.i. 1·42 to 3·02, P < 0·001; high TBS: HR 4·05, 2·40 to 6·82, P < 0·001) and BCLC-B (high TBS: HR 3·85, 2·03 to 7·30; P < 0·001) HCC. TBS could also stratify prognosis among patients in an external validation cohort (5-year OS 79, 51·2 and 28 per cent for low, medium and high TBS respectively; P = 0·010). CONCLUSION: The prognosis of patients with HCC varied according to the BCLC stage but was largely dependent on the TBS.
ANTECEDENTES: Aunque el sistema de estadificación del Barcelona Clinic Liver Cancer (BCLC) ha sido adoptado en gran medida en la práctica clínica, estudios recientes han enfatizado la necesidad de un mayor refinamiento y subclasificación del sistema BCLC. MÉTODOS: Los pacientes con carcinoma hepatocelular (hepatocellular cancer, HCC) BCLC-0, A y B que se sometieron a una hepatectomía con intención curativa entre 2000 y 2017 fueron identificados utilizando una base de datos multi-institucional. Se calculó la puntuación de carga tumoral (tumour burden score, TBS) y se examinó la supervivencia global (overall survival, OS) en relación con la TBS y los estadios BCLC. RESULTADOS: En la serie de 1.053 pacientes, 63 (6%) tenían HCC BCLC-0, 826 (78,4%) HCC BCLC-A y 164 (15,6%) HCC BCLC-B. La OS disminuyó de forma incremental en función de la mayor TBS (OS a 5 años; TBS baja: 77,9% versus TBS media: 61% versus TBS alta: 39%, P < 0,001). No se observaron diferencias en la OS entre pacientes con una puntuación TBS similar, independientemente del estadio BCLC (BCLC-A/TBS media: 61,6% versus BCLC-B/TBS media: 58,9%, P = 0,93; BCLC-A/TBS alta: 45,1% versus BCLC-B/TBS alta: 12,8%, P = 0,175). Los pacientes con BCLC-B/TBS media tuvieron una mejor OS que los pacientes con BCLC-A/TBS alta (58,9% versus 45,1%, P = 0,005). En el análisis multivariable, la TBS se mantuvo asociada a la OS en el caso de BCLC-A (TBS media: cociente de riesgos instantáneos, hazard ratio, HR = 2,07, i.c. del 95%: 1,42-3,02, P < 0,001; TBS alta: HR = 4,05, i.c. del 95%: 2,40-6,82, P < 0,001) y BCLC-B pacientes (TBS alta: HR = 3,85, i.c. del 95%: 2,03-7,30, P < 0,001). La TBS también pudo estratificar el pronóstico entre pacientes en una cohorte de validación externa (OS a 5 años; TBS baja: 78,7% versus TBS media: 51,2% versus TBS alta: 27,6%, P = 0,01). CONCLUSIÓN: El pronóstico de los pacientes con HCC varió según el estadio BCLC, pero dependió en gran medida de la TBS.
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Carcinoma Hepatocelular/diagnóstico , Neoplasias Hepáticas/diagnóstico , Idoso , Carcinoma Hepatocelular/mortalidade , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/cirurgia , Intervalo Livre de Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/cirurgia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Prognóstico , Análise de Sobrevida , Carga TumoralRESUMO
AIMS: To assess the performance of metabolic syndrome as a predictor of type 2 diabetes in a model that also includes both a measure of insulin resistance and a metabolic score for visceral fat, and to propose a novel metabolic syndrome definition. METHODS: In a prospective Metabolic Syndrome Cohort (n=6143), we evaluated improvements in type 2 diabetes risk prediction using International Diabetes Federation-defined and Adult Treatment Panel III-defined metabolic syndrome, after inclusion in the model of updated homeostatic model assessment of insulin resistance and a metabolic score for visceral fat. We also developed a modified metabolic syndrome construct, 'MS-METS', which used the metabolic score for visceral fat instead of waist circumference to evaluate improved predictive performance for risk of developing type 2 diabetes. RESULTS: Participants who had metabolic syndrome as defined by both the Adult Treatment Panel III and the International Diabetes Federation criteria had a higher risk of type 2 diabetes compared to participants who did not meet these criteria. Addition of updated homeostatic model assessment of insulin resistance and metabolic score for visceral fat to both metabolic syndrome definitions increased predictive performance for type 2 diabetes risk. Homeostatic model assessment of insulin resistance was the only additional predictor of type 2 diabetes in participants without metabolic syndrome. Conversely, in participants with metabolic syndrome, the use of the metabolic score for visceral fat was the stronger added predictor for type 2 diabetes. When evaluating participants using the MS-METS definition we observed the largest improvement in predictive ability for type 2 diabetes risk and a significant reduction in risk overestimation compared to evaluation using metabolic syndrome defined according to the International Diabetes Federation and Adult Treatment Panel III criteria alone. CONCLUSION: Inclusion of updated homeostatic model assessment of insulin resistance and metabolic score for visceral fat increases performance of metabolic syndrome in prediction of type 2 diabetes. Assessment of insulin resistance could be more useful than conventional metabolic syndrome and assessment of visceral adipose tissue could be more useful in people with metabolic syndrome. Metabolic syndrome as defined using our modified MS-METS construct improved the accuracy of type 2 diabetes prediction.
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Diabetes Mellitus Tipo 2/epidemiologia , Resistência à Insulina , Gordura Intra-Abdominal , Síndrome Metabólica/epidemiologia , Razão Cintura-Estatura , Adulto , Glicemia/metabolismo , Jejum , Feminino , Humanos , Masculino , Síndrome Metabólica/metabolismo , Pessoa de Meia-Idade , Medição de Risco , Triglicerídeos/metabolismoRESUMO
STUDY QUESTION: Is the newly discovered cytokine interleukin (IL)-34 expressed at the human fetal-maternal interface in order to influence polarization of monocytes into macrophages of a decidual immunoregulatory phenotype? SUMMARY ANSWER: IL-34 was found to be present at the fetal-maternal interface, in both fetal placenta and maternal decidua, and it was able to polarize monocytes into macrophages of a decidual phenotype. WHAT IS KNOWN ALREADY: IL-34 was shown to bind to the same receptor as macrophage-colony stimulating factor (M-CSF), which has an important immunomodulatory role at the fetal-maternal interface, for example by polarizing decidual macrophages to an M2-like regulatory phenotype. IL-34 is known to regulate macrophage subsets, such as microglia and Langerhans cells, but its presence at the fetal-maternal interface is unknown. STUDY DESIGN, SIZE, DURATION: The presence of IL-34 at the fetal-maternal interface was evaluated by immunohistochemistry (IHC) and ELISA in placental and decidual tissues as well as in isolated trophoblast cells and decidual stromal cells obtained from first trimester elective surgical terminations of pregnancy (n = 49). IL-34 expression was also assessed in third trimester placental biopsies from women with (n = 21) or without (n = 15) pre-eclampsia. The effect of IL-34 on macrophage polarization was evaluated in an in vitro model of blood monocytes obtained from healthy volunteers (n = 14). In this model, granulocyte macrophage-colony stimulating factor (GM-CSF) serves as a growth factor for M1-like polarization, and M-CSF as a growth factor for M2-like polarization. PARTICIPANTS/MATERIALS, SETTING, METHODS: First trimester placental and decidual tissues were obtained from elective pregnancy terminations. Placental biopsies were obtained from women with pre-eclampsia and matched controls in the delivery ward. Polarization of macrophages in vitro was determined by flow-cytometric phenotyping and secretion of cytokines and chemokines in cell-free supernatants by multiplex bead assay. MAIN RESULTS AND THE ROLE OF CHANCE: Our study shows that IL-34 is produced at the fetal-maternal interface by both placental cyto- and syncytiotrophoblasts and decidual stromal cells. We also show that IL-34, in vitro, is able to polarize blood monocytes into macrophages with a phenotype (CD14highCD163+CD209+) and cytokine secretion pattern similar to that of decidual macrophages. The IL-34-induced phenotype was similar, but not identical to the phenotype induced by M-CSF, and both IL-34- and M-CSF-induced macrophages were significantly different (P < 0.05-0.0001 depending on marker) from GM-CSF-polarized M1-like macrophages. Our findings suggest that IL-34 is involved in the establishment of the tolerant milieu found at the fetal-maternal interface by skewing polarization of macrophages into a regulatory phenotype. LIMITATIONS, REASONS FOR CAUTION: Although it is clear that IL-34 is present at the fetal-maternal interface and polarizes macrophages in vitro, its precise role in vivo remains to be established. WIDER IMPLICATIONS OF THE FINDINGS: The recently discovered cytokine IL-34 is present at the fetal-maternal interface and has immunomodulatory properties with regard to induction of decidual macrophages, which are important for a healthy pregnancy. Knowledge of growth factors related to macrophage polarization can potentially be translated to treatment of pregnancy complications involving dysregulation of this process. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by grants from the Medical Research Council (Grant K2013-61X-22310-01-04), the Research Council of South-East Sweden (FORSS), and the County Council of Östergötland, Sweden. No author has any conflicts of interest to declare.
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Decídua/metabolismo , Interleucinas/metabolismo , Macrófagos/metabolismo , Placenta/metabolismo , Citocinas/metabolismo , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Células Estromais/metabolismo , Trofoblastos/metabolismoRESUMO
Until 2014, pegylated interferon plus ribavirin was the recommended standard of care for the treatment of chronic hepatitis C virus (HCV) infection in India. This open-label phase 3b study, conducted across 14 sites in India between 31 March 2014 and 30 November 2015, evaluated the efficacy and safety of sofosbuvir plus ribavirin therapy among treatment-naïve patients with chronic genotype 1 or 3 HCV infection. A total of 117 patients with genotype 1 or 3 HCV infection were randomized 1:1 to receive sofosbuvir 400 mg and weight-based ribavirin (1000 or 1200 mg) daily for 16 or 24 weeks. Among those with genotype 1 infection, the primary efficacy endpoint of sustained virologic response at 12 weeks post-treatment (SVR12) was reported in 90% (95% confidence intervals [CI], 73-98) and 96% (95% CI, 82-100) of patients following 16 and 24 weeks of treatment, respectively. For patients with genotype 3 infection, SVR12 rates were 100% (95% CI, 88-100) and 93% (95% CI, 78-99) after 16 and 24 weeks of therapy, respectively. Adverse events, most of which were mild or moderate in severity, occurred in 69% and 57% of patients receiving 16 and 24 weeks of treatment, respectively. The most common treatment-emergent adverse events were asthenia, headache and cough. Only one patient in the 24-week group discontinued treatment with sofosbuvir during this study. Overall, sofosbuvir plus ribavirin therapy achieved SVR12 rates ≥90% and was well tolerated among treatment-naïve patients with chronic genotype 1 or 3 HCV infection in India.
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Antivirais/administração & dosagem , Genótipo , Hepacivirus/classificação , Hepatite C Crônica/tratamento farmacológico , Hepatite C Crônica/virologia , Ribavirina/administração & dosagem , Sofosbuvir/administração & dosagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antivirais/efeitos adversos , Quimioterapia Combinada/efeitos adversos , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/patologia , Hepacivirus/genética , Hepacivirus/isolamento & purificação , Humanos , Índia , Pessoa de Meia-Idade , Ribavirina/efeitos adversos , Sofosbuvir/efeitos adversos , Resposta Viral Sustentada , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Endometrial biopsies are undertaken in premenopausal women with abnormal uterine bleeding but the risk of endometrial cancer or atypical hyperplasia is unclear. OBJECTIVES: To conduct a systematic literature review to establish the risk of endometrial cancer and atypical hyperplasia in premenopausal women with abnormal uterine bleeding. SEARCH STRATEGY: Search of PubMed, Embase and the Cochrane Library from database inception to August 2015. SELECTION CRITERIA: Studies reporting rates of endometrial cancer and/or atypical hyperplasia in women with premenopausal abnormal uterine bleeding. DATA COLLECTION AND ANALYSIS: Data were independently extracted by two reviewers and cross-checked. For each outcome, the risk and a 95% CI were estimated using logistic regression with robust standard errors to account for clustering by study. MAIN RESULTS: Sixty-five articles contributed to the analysis. Risk of endometrial cancer was 0.33% (95% CI 0.23-0.48%, n = 29 059; 97 cases) and risk of endometrial cancer or atypical hyperplasia was 1.31% (95% CI 0.96-1.80, n = 15 772; 207 cases). Risk of endometrial cancer was lower in women with heavy menstrual bleeding (HMB) (0.11%, 95% CI 0.04-0.32%, n = 8352; 9 cases) compared with inter-menstrual bleeding (IMB) (0.52%, 95% CI 0.23-1.16%, n = 3109; 14 cases). Of five studies reporting the rate of atypical hyperplasia in women with HMB, none identified any cases. CONCLUSIONS: The risk of endometrial cancer or atypical hyperplasia in premenopausal women with abnormal uterine bleeding is low. Premenopausal women with abnormal uterine bleeding should first undergo conventional medical management. Where this fails, the presence of IMB and older age may be indicators for further investigation. Further research into the risks associated with age and the cumulative risk of co-morbidities is needed. TWEETABLE ABSTRACT: Contrary to practice, premenopausal women with heavy periods or inter-menstrual bleeding rarely require biopsy.
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Hiperplasia Endometrial/epidemiologia , Neoplasias do Endométrio/epidemiologia , Hemorragia Uterina/etiologia , Hiperplasia Endometrial/complicações , Neoplasias do Endométrio/complicações , Endométrio/patologia , Feminino , Humanos , Pré-Menopausa , Prevalência , Risco , Medição de Risco/métodosRESUMO
The hypothesis that El Niño events influence the settlement patterns of the California moray Gymnothorax mordax is tested. The pelagic larval duration (PLD) of larval G. mordax is unknown, but studies on leptocephalus of related species suggest that larvae are long-lived, up to 2 years. Gymnothorax mordax, an elusive predatory species and the only muraenid off the coast of California, is considered abundant in the waters around Catalina Island. Thirty-three individuals were collected from Two Harbors, Catalina Island, and otoliths were taken to provide estimates of their age. Settlement year for each individual was backcalculated using estimated age from otolith measurements. These ages were then cross referenced with the Oceanic Niño Index (ONI) developed by the National Oceanographic and Atmospheric Administration (NOAA) to correlate estimated age of settlement with known El Niño years. Of the 33 individuals collected, 30 settled at Catalina Island during El Niño years. The oldest individual in the data-set was 22 years old, placing G. mordax as one of the longer-lived predatory fishes in the system. The present study represents the first account of wild G. mordax ages and suggests that El Niño events have an important role in driving the settlement of recruits towards the northern edge of their range.
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Anguilla/fisiologia , Distribuição Animal/fisiologia , El Niño Oscilação Sul , Animais , California , IlhasRESUMO
Background Acute upper gastrointestinal bleeding is a serious medical problem in cirrhotic patients. Patients with cirrhosis may develop upper gastrointestinal bleeding from a variety of lesions, including those due to portal hypertension, namely gastroesophageal varices and portal hypertensive gastropathy and other lesions as seen in the general population. Objective To investigate the etiology of upper gastrointestinal bleeding in liver cirrhotic patients. Method A retrospective review of 72 patients with liver cirrhosis and upper gastrointestinal bleeding from January 2013 to March 2016 was carried out at Dhulikhel Hospital. Child Pugh score was used to assess severity. Endoscopic diagnosis was documented. Result Out of 72 patients, 56 (77.8 %) were male and 16 (22.2%) were female. The most common age group was 30-42 years age. Fifty four cases of cirrhosis were associated with alcohol consumption. The Child-Pugh score was A in 20 patients (27.8%), B in 15 patients (20.8%) and C in 37 patients (51.4%). A combination of alcohol consumption and HCV infection was significantly associated with a higher Child-Pugh score (p=0.031). Twenty six (36.11%) patients had esophageal varices as cause of bleeding on endoscopic examination while 29(40.28%) had varices and other lesions identified at endoscopy. Of these 29 patients, 18 were found to have bled from esophageal varices, and 11 were found to have bled from coexisting lesion. Conclusion We found that variceal bleeding was the commonest cause of bleeding in cirrhotic patients, with 55 (78.5%) having varices and 44 (61%) actually bleeding from varices.
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Hemorragia Gastrointestinal/etiologia , Cirrose Hepática/complicações , Adulto , Idoso , Criança , Endoscopia , Varizes Esofágicas e Gástricas , Feminino , Hemorragia Gastrointestinal/diagnóstico , Hospitais , Humanos , Hipertensão Portal , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
AIMS: To provide a review of the available data and practical use of insulin degludec with insulin aspart (IDegAsp). Premixed insulins provide basal and prandial glucose control; however, they have an intermediate-acting prandial insulin component and do not provide as effective basal coverage as true long-acting insulins, owing to the physicochemical incompatibility of their individual components, coupled with the inflexibility of adjustment. The molecular structure of the co-formulation of IDegAsp, a novel insulin preparation, allows these two molecules to coexist without affecting their individual pharmacodynamic profiles. METHODS: Clinical evidence in phase 2/3 trials of IDegAsp efficacy and safety in type 1 and type 2 diabetes mellitus (T1DM and T2DM) have been assessed and summarised. RESULTS: In people with T2DM, once- and twice-daily dosing provides similar overall glycaemic control (HbA1c ) to current modern insulins, but with lower risk of nocturnal hypoglycaemia. In prior insulin users, glycaemic control was achieved with lower or equal insulin doses vs. other basal+meal-time or premix insulin regimens. In insulin-naïve patients with T2DM, IDegAsp can be started once or twice-daily, based on individual need. People switching from more than once-daily basal or premix insulin therapy can be converted unit-to-unit to once-daily IDegAsp, although this strategy should be assessed by the physician on an individual basis. CONCLUSIONS: IDegAsp offers physicians and people with T2DM a simpler insulin regimen than other available basal-bolus or premix-based insulin regimens, with stable daytime basal coverage, a lower rate of hypoglycaemia and some flexibility in injection timing compared with premix insulins.
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Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Insulina Aspart/administração & dosagem , Insulina de Ação Prolongada/administração & dosagem , Glicemia , Ensaios Clínicos Fase II como Assunto , Ensaios Clínicos Fase III como Assunto , Esquema de Medicação , Substituição de Medicamentos , Humanos , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/farmacologia , Insulina Aspart/efeitos adversos , Insulina Aspart/farmacologia , Insulina de Ação Prolongada/efeitos adversos , Insulina de Ação Prolongada/farmacologia , Resultado do TratamentoAssuntos
Angiomatose , COVID-19 , Exantema , Angiomatose/diagnóstico , Humanos , Imunização , SARS-CoV-2RESUMO
Duplication 17pll.2 syndrome is a recent recognized syndrome with multiple congenital anomalies and mental retardation. Most patients with duplication 17p11.2 syndrome harbor a common 3.7 Mb duplication (17p.11.2 duplication syndrome) resulting in congenital anomalies, neurodevelopmental and behavioral phenotypes. We report a case with spina bifida, tetralogy of Fallot and a small duplication (932 Kb) of 17pl1.2 containing approximately 20 genes, detected by array-CGH. We describe clinical features not reported previously for microduplication of 17p11.2.
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Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 17/genética , Espinha Bífida Oculta/genética , Tetralogia de Fallot/genética , Anormalidades Múltiplas/diagnóstico , Transtornos Cromossômicos/diagnóstico , Feminino , Humanos , Recém-Nascido , Polimorfismo de Nucleotídeo Único/genética , Espinha Bífida Oculta/diagnóstico , Tetralogia de Fallot/diagnósticoRESUMO
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism. This is the first report of a patient with partial trisomy 4p and partial monosomy 13q.
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Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Doenças em Gêmeos/genética , Retardo do Crescimento Fetal , Complicações Neoplásicas na Gravidez/cirurgia , Trissomia/genética , Deleção Cromossômica , Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 4/genética , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Complicações Neoplásicas na Gravidez/tratamento farmacológico , Diagnóstico Pré-NatalRESUMO
Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.
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Anormalidades Múltiplas/patologia , Doenças do Desenvolvimento Ósseo/patologia , Anormalidades Craniofaciais/patologia , Síndromes de Imunodeficiência/patologia , Crânio/patologia , Baço/anormalidades , Retardo do Crescimento Fetal/patologia , Humanos , Recém-Nascido , Doenças da Imunodeficiência Primária , Baço/patologia , SíndromeRESUMO
Ethylcellulose is one of the most commonly used polymers to develop reservoir type extended release multiparticulate dosage forms. For multiparticulate extended release dosage forms, the drug release is typically governed by the properties of the barrier membrane coating. The ICH Pharmaceutical Development Guideline (ICH Q8) requires an understanding of the influence of critical material attributes and critical process parameters on the drug release of a pharmaceutical product. Using this understanding, it is possible to develop robust formulations with consistent drug release characteristics. Critical material attributes for ethylcellulose were evaluated, and polymer molecular weight variation (viscosity) was considered to be the most critical attribute that can impact drug release. To investigate the effect of viscosity variation within the manufacturer's specifications of ethylcellulose, extended release multiparticulate formulations of two model drugs, metoprolol tartrate and acetaminophen, were developed using ETHOCEL™ as the rate controlling polymer. Quality by Design (QbD) samples of ETHOCEL Std. 10, 20, and 100 Premium grades representing the low, medium, and high molecular weight (viscosity) material were organically coated onto drug layered multiparticulates to a 15% weight gain (WG). The drug release was found to be similar (f 2 > 50) for both metoprolol tartrate and acetaminophen multiparticulates at different coating weight gains of ethylcellulose, highlighting consistent and robust drug release performance. The use of ETHOCEL QbD samples also serves as a means to develop multiparticulate dosage formulations according to regulatory guidelines.
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Acetaminofen/química , Celulose/análogos & derivados , Preparações de Ação Retardada/química , Metoprolol/química , Celulose/química , Química Farmacêutica/métodos , Liberação Controlada de Fármacos , Excipientes/química , Polímeros/química , ViscosidadeRESUMO
OBJECTIVES: Obesity and stress are independently associated with decrements in neuromuscular functions. The present study examined the interplay of obesity and stress on neuromuscular fatigue and associated heart rate variability (HRV). METHODS: Forty-eight non-obese (18.5
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Força da Mão , Fadiga Muscular , Força Muscular , Obesidade/fisiopatologia , Resistência Física , Adaptação Fisiológica , Adulto , Pressão Sanguínea , Metabolismo Energético , Feminino , Frequência Cardíaca , Humanos , Masculino , Obesidade/complicações , Fatores de RiscoRESUMO
BACKGROUND: Little is known about the effects of socio-economic deprivation on the oncological outcomes of surgically treated upper tract transitional cell carcinoma. METHODS: From January 1998 to December 2012, 161 patients underwent nephroureterectomy for upper urinary tract cancer at our tertiary medical centre. We included 124 patients where complete data were available for further analysis. This study also analysed the impact of the reported risk factors such as grade, stage, multifocality in addition to socio-economic deprivation on the long-term oncological outcomes after nephroureterectomy. RESULTS: One hundred and twenty-four (77 %) patients with complete data for socio-economic status were analysed in this study. The median age of the cohort was 73 years (interquartile range 45-86). There were 20, 18, 17, 40 and 29 patients in different socio-economic categories ranging from 1 to 5, respectively. The median duration of follow-up was 68 months (9-174). A statistically higher grade (p value 0.005) and higher stage (p value 0.0005) disease was seen in patients from less deprived categories on both univariate and multivariate analyses. The cancer-specific mortality and follow-up recurrences, however, did not significantly differ between the different socio-economic categories on multivariate analysis (p value 0.13; 0.6) and on univariate and multivariate analyses. A higher number of patients with multifocal disease and concomitant carcinoma in situ (CIS) had disease recurrences which were statistically significant (p values 0.026 and 0.014, respectively) on multivariate analysis. CONCLUSIONS: A lower recurrence-free survival was observed in patients with multifocal disease and those with concomitant CIS following nephroureterectomy for clinically localized disease. Long-term follow-up did not show any significant differences in cancer-specific survival between different deprivation categories.
Assuntos
Carcinoma de Células de Transição/patologia , Carcinoma de Células de Transição/cirurgia , Neoplasias Renais/cirurgia , Nefrectomia , Classe Social , Neoplasias Ureterais/cirurgia , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células de Transição/mortalidade , Estudos de Coortes , Feminino , Humanos , Neoplasias Renais/mortalidade , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Análise de Sobrevida , Resultado do Tratamento , Neoplasias Ureterais/mortalidade , Neoplasias Ureterais/patologiaRESUMO
The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.
Assuntos
Atresia Esofágica/genética , Fístula Traqueoesofágica/genética , Trissomia/genética , Cromossomos Humanos Par 22/genética , Feminino , Humanos , Recém-Nascido , FenótipoRESUMO
BACKGROUND: Incidence of venous thromboembolism (VTE) in children is reported to be increasing. We examined thrombophilia testing results in children with VTE that presented in inpatient and outpatient settings to explore patterns of thrombophilia testing. PATIENTS/METHODS: Children, ages 0-20 years with VTE seen at our institution from Jan 2005 to Apr 2012 were studied retrospectively. All patients with VTE confirmed by imaging were eligible and the presence of significant risk factors was evaluated. Thrombophilia was diagnosed if >1 tests confirmed: persistently low protein C (PC), protein S (PS), and antithrombin (AT) following VTE resolution, persistent antiphospholipid antibodies (APA) positivity >12 weeks from first test, factor V Leiden (FVL) and prothrombin mutation (PTm) hetero- or homozygosity, elevated plasminogen activator inhibitor (PAI-1) levels with 4G/5G or 4G/4G polymorphisms, methylene tetrahydrofolate reductase (MTHFR) polymorphisms with elevated fasting homocysteine levels. RESULTS: Three hundred ninety-two patients met inclusion criteria. At least one test was ordered in 157/239 inpatients. All 153 outpatients had >1 test ordered. Thrombophilia rate differences between inpatients and outpatients did not reach statistical significance except for PC deficiency, which was significantly higher in outpatients. Of inpatients, central venous line (CVL) was significantly associated with not having tests done (P < 0.0022). CONCLUSIONS: This study of pediatric VTE demonstrated a low thrombophilia rate in both inpatient and outpatient populations. The role of testing in other pediatric patients should be further explored.