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Genetic defect in the nuclear encoded subunits of cytochrome c oxidase are very rare. To date, most deleterious variants affect the mitochondrially encoded subunits of complex IV and the nuclear genes encoded for assembly factors. A biallelic pathogenic variant in the mitochondrial complex IV subunit COX5A was previously reported in a couple of sibs with failure to thrive, lactic acidosis and pulmonary hypertension and a lethal phenotype. Here, we describe a second family with a 11-year-old girl presenting with failure to thrive, lactic acidosis, hypoglycemia and short stature. Clinical exome revealed the homozygous missense variant c.266 T > G in COX5A, which produces a drop of the corresponding protein and a reduction of the COX activity. Compared to the previous observation, this girl showed an attenuated metabolic derangement without involvement of the cardiovascular system and neurodevelopment. Our observation confirms that COX5A recessive variants may cause mitochondrial disease and expands the associated phenotype to less severe presentations.
To evaluate the effectiveness of a modified disposable circumcision suture device (DCSD) with application of plastic sheet to avoid severe bleeding after circumcision and compare the surgical effects and other postoperative complications of two DCSDs.
A total of 943 excess foreskin patients from January 2018 to January 2020 who underwent circumcision using two different DCSDs were recruited. Preoperative characteristics (patient age, height and weight), main surgical outcomes (surgical time, intraoperative blood loss, incision healing time) and postoperative complications (postoperative hemorrhage and hematoma rate, edema rate, incision infection rate, residual staples rate) were collected and analyzed. Patients' "satisfaction" or "dissatisfaction" was also investigated.
Preoperative characteristics showed no significant statistical difference. The modified DCSD group has a lower intraoperative bleeding, postoperative hemorrhage or hematoma rate and residual staples rate compared with the conventional group. Incision healing time and incision infection rate between the two groups were similar. Nevertheless, conventional group has a shorter surgical time, a lower edema rate and a higher satisfaction rate.
The modified DCSD with application of plastic sheet can avoid severe bleeding after circumcision effectively and can be served as a new choice for circumcision.
The modified DCSD with application of plastic sheet can avoid severe bleeding after circumcision effectively and can be served as a new choice for circumcision.
Cisplatin-based neoadjuvant chemotherapy (NAC) is the standard of care in non-metastatic muscle-invasive bladder cancer (MIBC). There are limited data regarding the alternative choices for cisplatin-ineligible patients. This study has investigated the oncological outcomes of gemcitabine plus cisplatin (Gem/Cis) and gemcitabine plus carboplatin (Gem/Carbo) in this setting. Materials and Methods One hundred forty consecutive patients with MIBC (cT2-T4a) receiving neoadjuvant Gem/Cis or Gem/Carbo before chemoradiation (CRT) or radical cystectomy (RC) were retrospectively evaluated between April 2009 and April 2019. Patients with ECOG performance status 2, creatinine clearance < 60 mL/min, hydronephrosis, ejection fraction < 50%, or single kidney received Gem/Carbo. The complete clinical response (cCR) and overall survival (OS) of NAC regimens were compared. Prognostic significance was assessed with Cox proportional hazards model.
In total, 79 patients (56.4%) received Gem/Cis. The cCR was not significantly different between Gem/Cis and Gem/Carbo regimens (38.7% vs. 36.2%, P = .771). After NAC, 79 patients (56.4%) received CRT, and other cases underwent RC. After a median follow-up of 43 months, patients in the Gem/Cis group had significantly better OS than Gem/Carbo (median OS 41.0 vs. 26.0 months, P = .008). Multivariable Cox proportional hazards models identified cT4a stage (95% confidence interval [95% CI] 1.001-4.85, hazard ratio [HR] = 2.08, P = .03) and cCR (95% CI 0.26-0.99, HR = 0.51, P = .04) as the only independent prognostic factors of OS, and ruled out the type of NAC regimen.
The choice of NAC (between Gem/Cis and Gem/Carbo) is not the predictor of survival and both regimens had similar cCR.
The choice of NAC (between Gem/Cis and Gem/Carbo) is not the predictor of survival and both regimens had similar cCR.Very-early-onset IBD and infantile-onset IBD is extremely rare in children. There is paucity of data with regards to clinical profile and outcome of children with infantile-onset IBD from India. The clinicolaboratory profile, molecular genetic testing and treatment details of 8 children diagnosed with monogenic infantile-onset IBD during 2015-2020 is described here. The median age at onset of symptoms was 3 mo. Sibling death and consanguinity were noted in 4 (50%) each respectively. Diarrhea was the presentation in all (100%) and hematochezia in 5 (62%). Colonic ulcers on colonosopy was seen in 7 infants. The common mutation identified was IL-10R gene in 3 (42%) and LRBA gene mutation in 2 (25%). HSCT was done in 4 children and the rest were managed conservatively. Although there was no mortality in this series, two children (25%) were lost for follow-up.
Left-ventricular (LV) global longitudinal strain (GLS) has been reported to be a robust and sensitive marker of chemotherapy-induced cardiac damage. Image quality is paramount for accurate GLS measurements. In real-world cardio-oncology settings, the incidence of suboptimal echocardiography quality and its significance in clinical decision-making have not been well investigated. This prospective study examined the incidence and impact of suboptimal echocardiographic image quality on detecting subtle myocardial damage by chemotherapy.
Seventy-seven consecutive patients with breast cancer (age, 52 ± 12years, 76 women, 33 with left-sided breast cancer) were included in this study. Echocardiography was performed at 3-month intervals 1year before and after chemotherapy initiation. We classified the image quality of each echocardiographic acquisition into three groups optimal, suboptimal, or inadequate for speckle tracking.
Among the 376 examinations obtained during the cardiac monitoring, the image quality in 194 (52%) was optimal, suboptimal in 159 (42%), and inadequate in 23 (6%). The interobserver reproducibility was 0.91 in the optimal and 0.21 in the suboptimal group. In contrast, the optimal group showed progressive impairment in both GLS (p = 0.001) and LV ejection fraction (LVEF) (p < 0.001) during follow-up, and the suboptimal group showed a progressive decrease in LVEF (p = 0.006), but not in GLS (p = 0.13). Left-sided mammotomy and/or reconstruction surgery and high body mass index were significant determinants of suboptimal image quality.
Even in cases of minor image quality impairment, the physician should assess GLS carefully to avoid errors in crucial clinical decision-making.
Even in cases of minor image quality impairment, the physician should assess GLS carefully to avoid errors in crucial clinical decision-making.There is an upward trend of consumption of organic fresh vegetables due to consumer demand for healthy foods without chemical additives. On the other hand, the number of food borne outbreaks associated with contaminated fresh produce has raised, being human norovirus genogroup I (GI), GII and hepatitis A virus (HAV) the most commonly reported causative agents. This study aimed to detect the presence of these viruses in green leafy vegetables (watercress, leek, coriander, and parsley) and strawberry using quantitative reverse transcription polymerase chain reaction (RT-qPCR). Samples were collected from the Egyptian regions of Kalubia, Giza, and Mansoura. Overall HAV average occurrence in fresh strawberry was 48% with a mean concentration of 6.1 × 103 GC/g; Also NoV GI overall average occurrence was 25% with a mean concentration of 9.7 × 102 genome copies (GC)/g, while NoV GII was 40% with a mean concentration of 2.4 × 103 GC/g. For strawberry collected directly from Kalubia farms, neither HAV nor HNoV GI & GII were detected. In green leafy vegetable samples, the occurrence of HAV was 31.2% with a mean concentration of 9.2 × 104 GC/g, while occurrence of NoV GI and NoV GII were 20% and 30% with a mean concentrations of 1.1 × 104 and 2.03 × 103 GC/g, respectively. In conclusion, the importance of a virus surveillance program for soft fruits and fresh vegetables is highlighted by the outcomes of this study. 7ACC2 Our findings should help with the management and control of microbial concerns in fresh foods, reducing the danger of consuming contaminated foods.
We describe the results of an exploratory analysis performed on the first head-to-head study (JapicCTI-194611) comparing two different intravenous (IV) neurokinin 1 (NK
) receptor antagonists, fosnetupitant and fosaprepitant, in combination with palonosetron (PALO) and dexamethasone (DEX) for the prevention of highly emetogenic chemotherapy (HEC)-induced nausea and vomiting (CINV). This analysis was performed to validate the findings of the primary analysis (previously published) utilizing a last observation carried forward (LOCF) approach for missing values for the efficacy endpoint of complete response (no emetic event and no rescue medication), while also evaluating the time periods encompassing the 0-168-hour (h) "extended overall phase" interval.
Patients scheduled to receive cisplatin-based chemotherapy were randomized 11 to fosnetupitant 235mg or fosaprepitant 150mg in combination with PALO 0.75mg and DEX. Complete response rates were calculated and compared (stratified by age category and sex witring the extended 7-day period following chemotherapy. INFOGRAPHIC.
In this exploratory analysis, fosnetupitant appeared to be more effective than fosaprepitant in preventing CINV associated with cisplatin-based HEC during the extended 7-day period following chemotherapy. INFOGRAPHIC.
In this study, we aimed to compare differences in disease course, etiology of acute pancreatitis admission to the intensive care unit, in-hospital mortality, disease severity, and local and systemic complications between patients aged ≥ 80years (octogenarians) and patients aged between 65 and 79years (non-octogenarians), all of whom were being followed with the diagnosis of acute pancreatitis.
Patients aged 65years and older with a diagnosis of acute biliary pancreatitis were included in the study. Clinical findings, routine laboratory test results, and imaging findings of all patients were reviewed retrospectively via the hospital's records system.
Of a total of 402 enrolled patients, 238 (59.2%) were female. Mean age was 77.1 ± 7.37years. Pancreatitis after endoscopic retrograde cholangiopancreatography was detected more frequently among octogenarians than non-octogenarians (12.9% versus 5.3%, respectively; p = 0.007). Levels of blood urea nitrogen, creatinine, and total bilirubin were higher among ocn groups. In terms of disease severity, mild acute pancreatitis was higher in the octogenarian group, while moderate acute pancreatitis was higher in the non-octogenarian group.
Website: https://www.selleckchem.com/products/7acc2.html
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