A Case Report of XLHR Caused by a PHEX Intron Variant Responsive to Burosumab: A Four-Year Follow-Up
1. Abstract 1.1. Introduction: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease characterized by renal phosphate wasting and impairment of vitamin D activation. We present a clinical case of a patient with XLHR as a consequence of an intron pathogenic variant in the PHEX gene.
The Physics of Darwinian Evolution
1. Abstract This paper describes the physical (thermodynamic) laws that govern Darwinian Evolution. When one understands how to apply these laws of physics, it becomes clear how clinical, experimental, and empirical examples of Darwinian Evolution behave the way they do. In particular, this paper shows which thermodynamic laws need to be applied to model and […]
A look back before looking ahead: Quality of A look back before looking ahead: Quality of Life (QoL) in women affected by complex vascular anomalies. Lessons learned to improve their health and well beingLife (QoL) in women affected
1. Abstract 1.1. Background: Patients with disabling complex vascular anomalies (VA) have decreased quality of life (QoL). 1.2. Objectives: To assess QoL of women with complex VA with the help of the global Well-Being Scale (QWBSA). 1.3. Method: Female adult patients from the vascular anomaly clinic of a single tertiary care center in Canada have […]
Very High Radiofrequency (RF) Radiation at Skeppsbron in the Old Town in Stockholm, Sweden
We published recently three case reports on persons that developed the microwave syndrome within short after the installation of 5G base station close to their dwellings. The health symptoms were attributed to high levels of RF radiation measured in their apart ments. Since before we have reported levels of RF radiation at cer tain places in Stockholm, Sweden. In 2019 one location with es pecially high levels was at Skeppsbron in the Old Town
STEMI in patient with anomalous single vessel coronary artery
We present a case of ST-segment myocardial infarction in a patient with anomalous single vessel coronary artery, i.e. right coronary artery originating from the left coronary artery. The patient under went successful primary percutaneous intervention of anomalies single vessel coronary artery without severe complications.
Expression of Catenin Delta 1 (CTNND1) in Pancreatic Cancer and Its Influence on Tumor Cell Biological Behavior
1.1. Objective: To explore the role of Catenin Delta 1 (CTNND1) in pancreatic cancer and its possible mechanism. 1.2. Methods: We selected CTNND1 as the research target us ing gene expression profile databases and bioinformatics analy sis methods. CTNND1 expression in the pancreatic cancer cell line PANC-1 was suppressed by siRNA technology, and various cell biological experiments were used to evaluate the impact of CTNND1 on cell proliferation, migration, invasion, apoptosis, and cell cycle. Meanwhile, the protein levels of epithelial-mesenchy mal transition (EMT) related biomarkers were detected to explore whether CTNND1 can regulate EMT in pancreatic cancer cells. 1.3. Results: We found that CTNND1 expression in pancreatic cancer cells was significantly increased. Knockdown of CTNND1 significantly reduced the proliferation, migration, and invasion ability of PANC-1 cells, increased the apoptosis rate, and inhib ited the cell cycle progression. In addition, CTNND1 knockdown could regulate EMT in pancreatic cancer cells. 1.4. Conclusion: Our research results reveal the important role of CTNND1 in pancreatic cancer and propose its possible mech anism of action. These findings provide a new theoretical basis for the treatment of pancreatic cancer, and CTNND1 may become a new target for pancreatic cancer treatment. However, more in depth research is still needed to clarify the specific role of CTN ND1 in pancreatic cancer and its detailed molecular mechanism.
FUNCTIONAL OUTCOME OF PROXIMAL HUMERUS FRACTURE FIXATION USING PHILOS SYSTEM
Proximal humerus fractures account for 5-6% of all adult frac tures. There is increasing recognition given in regard to managing these fractures in the setting of elderly, low-energy falls as these events are contributing to the global impact of direct and indirect costs of osteoporosis and fragility fractures.
Clinical determinants of outcome and respiratory management in COVID-19 mechanically ventilated patients with Acute Respiratory Distress Syndrome: A 15-month prospective observational study in a Greek Intensive Care Unit
1.1. Background: Covid-19 associated acute respiratory distress syndrome (CARDS) and prolonged mechanical ventilation im poses a major burden on affected critically ill individuals, in light of high mortality. We aimed to identify possible risk factors for mortality among the three categories of ARDS severity according to Berlin definition and to examine the effect of time on patients’ oxygenation and respiratory mechanics. 1.2. Methods: We prospectively investigated the clinical charac teristics and outcome of 196 consecutive mechanically ventilated patients with CARDS, along with oxygenation and respiratory me chanics, on ICU days 1, 3 and 7. 1.3. Results: ICU mortality accounted for 63.3%. Non-survivors were significantly older and presented higher disease severity on ICU admission and higher incidence of chronic obstructive pulmo nary disease (COPD), neurologic disease and immunosuppression. PaO2/FiO2 was significantly higher in the survivors group at all time points, whereas significant increase over time (day 7 vs day 1) was observed only in survivors group. Static respiratory system compliance was higher and driving pressure was lower in survi vors compared to non survivors, on days 3 and 7. Regarding the non-survivors group, oxygenation remained unchanged through different time points, while compliance reduced significantly and plateau and driving pressures increased through evolution of time. Mild, moderate and severe CARDS was reported in 16 (8.2%), 88 (44.9%) and 92 (46.9%) patients respectively. Incidence of obe sity was higher in severe CARDS. PEEP levels and plateau pres sures were higher in the severe CARDS, while respiratory system compliance and driving pressure did not differ among the CARDS categories. 1.4. Conclusions: In our case series, ICU mortality was high and increased accordingly to CARDS severity. Mortality risk factors included older age, COPD, neurological disorders and immuno suppression. Body mass index was significantly increased across CARDS severity. Trajectories of hypoxemia and respiratory me chanics were also associated with outcome
FREQUENCY OF ACUTE COMPARTMENT SYNDROME IN CLOSED FRACTURES OF THE LIMBS
Acute compartment syndrome is a surgical emergency requiring in time management otherwise complications which may lead sever discomfort or to loss of limb can occur. In a study it has been found that acute compartment syndrome is present in 87 (7.73 %) of all tibial diaphyseal fractures with no significant difference in inci dence of acute compartment syndrome in type of fractures. Result of this study can be used to find the magnitude of this emergency condition in patient with fracture and the pre planning for such condition
Acute kidney injury in patients undergoing on-pump cardiac surgery: a single center experience
1.1. Background: Cardiopulmonary bypass (CPB) was one of the risk factors for acute kidney injury (AKI) in patients undergoing cardiac surgery. Previous studies indicated that the incidence of AKI in on-pump surgery varied from 1% to 64%, according to different criteria of AKI and types of surgery. Fuwai Hospital is a prominent center for cardiac surgery in China. The incidence of AKI in patients undergoing cardiac surgery with CPB in our center remained unknown. Therefore, we wanted to summarize the incidence of acute kidney injury (AKI) in patients undergoing on-pump cardiac surgery at Fuwai Hospital and analyze the risk factors and preventive and therapeutic measures for AKI. 1.2. Methods: Relevant articles were searched from China Nation al Knowledge Infrastructure (CNKI), VIP Data, WANFANG Data, Sino-Med, PubMed, Ovid, and Embase, using the search terms: (“Fuwai” OR “fuwai”) AND (“acute kidney injury” OR “renal dysfunction” OR” renal failure” OR “renal replacement therapy” OR” dialysis” OR “blood urea nitrogen” OR “creatinine”) AND (“cardiopulmonary bypass” OR “ extracorporeal circulation”). 1.3. Results: Seventeen studies were included in this analysis. The incidence of on-pump cardiac surgery-induced AKI ranged from 25.6% to 77.6%. Risk factors for AKI in adults included increased age, prolonged cardiopulmonary bypass (CPB) duration, elevated body mass, male sex, history of hypertension, total red blood cell infusion, aortic dissection, and total arch replacement combined with frozen elephant trunk implantation. In pediatric patients, the risk factors for AKI were preoperative cardiac dysfunction, ear ly fluid overload, higher preoperative estimated creatinine clear ance, higher postoperative day neutrophil-to-lymphocyte ratio, postoperative day renal hypoperfusion pressure, and a previous bidirectional Glenn procedure. In addition, urine neutrophil gelati nase-associated lipocalin was a highly predictive early biomark er of AKI. Levosimendan reduced the incidence of postoperative AKI in critically ill patients undergoing on-pump coronary artery bypass grafting. The aortic balloon occlusion technique decreased the incidence of postoperative AKI. A lower threshold of hypother mic-indexed oxygen delivery was negatively associated with AKI. A longer duration from diagnosis to surgical repair and a higher preoperative albumin level helped lower the risk of AKI in pediat ric patients with left coronary reimplantation