BackgroundHereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion exchanger 1. In this study, ...some patients with clinical evidence of congenital HS and renal symptoms were investigated. MethodsTwelve patients with congenital HS and renal symptoms were recruited from Ali-Asghar Children’s Hospital (Tehran, Iran). A patient suspected of having dRTA was examined using whole exome sequencing method, followed by Sanger sequencing. ResultsOne patient (HS03) showed severe failure to thrive, short stature, frequent urinary infection, and weakness. A homozygote (rs571376371 for c.2494C>T; p.Arg832Cys) and a heterozygote (rs377051298 for c.466C>T; p.Arg156Trp) missense variant were identified in the SLC4A1 and SPTA1 genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03. ConclusionOur observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03.
Root foraging and root physiology such as exudation of carboxylates into the rhizosphere are important strategies for plant phosphorus (P) acquisition. We used 100 chickpea (Cicer arietinum) ...genotypes with diverse genetic backgrounds to study the relative roles of root morphology and physiology in P acquisition.
Plants were grown in pots in a low-P sterilized river sand supplied with 10 μg P g−1 soil as FePO4, a poorly soluble form of P.
There was a large genotypic variation in root morphology (total root length, root surface area, mean root diameter, specific root length and root hair length), and root physiology (rhizosheath pH, carboxylates and acid phosphatase activity). Shoot P content was correlated with total root length, root surface area and total carboxylates per plant, particularly malonate. A positive correlation was found between mature leaf manganese (Mn) concentration and carboxylate amount in rhizosheath relative to root DW.
This is the first study to demonstrate that the mature leaf Mn concentration can be used as an easily measurable proxy for the assessment of belowground carboxylate-releasing processes in a range of chickpea genotypes grown under low-P, and therefore offers an important breeding trait, with potential application in other crops.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NMLJ, NUK, OILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK
The COVID-19 pandemic swiftly affected the world in a very short duration, and the orthopaedic surgery practice is no exception. Unprecedented lockdown was enforced in many countries including India ...as a first response to contain virus and its spread. That lead to a lot of confusion, fear, anxiety among general population as well as orthopaedic surgeons. We have studied the impact of this pandemic with fear as a denominator and how it affected the practice and health of orthopaedic surgeons.
Cross-sectional web-based national survey distributed to orthopaedic surgeons by social media platform over period of one month from July 25, 2020 to August 25, 2020.
Among 1065 responders, 731 completed the survey. Among 1065 responders, 27.22% had orthopaedic practice experience ranging from 10 to 20 years while 21.48% had orthopaedic experience more than 20 years. Scientific literature as well as social media and news media contributed significantly to Covid-19 knowledge and fear. 98.88% were worried about contracting disease by themselves or by family members. 89.47% were worried due to financial loss due to pandemic. 37 (5.06%) surgeons had a FCV- 19 scale (Fear for Covid-19 scale) score more than 60 (8.2%) while 291 (39.8%) had 41–60 and score was <40 in 403 (55.12%) surgeons. According to survey vaccine availability and emergence of effective drug and treatment protocol will alleviate most of the concerns. 70.81% felt mildly depressed during pandemic times while 65.33% surgeons expressed interest in joining discussion groups and meetings encouraging positive thoughts.
Financial liabilities and well-being of self and family are important factors which induced fear of Covid-19 among orthopaedic surgeons. Positive discussions and timely information from credible sources regarding prevention, diagnosis and management and will reduce psychological burden due to Covid-19, also this will help to form policies for future pandemics.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
•The matrix protein collagen VIII influences conduit artery compliance.•Collagen VIII negatively regulates elastin.•Collagen VIII KO increases elastin synthesis and content in carotid ...arteries.•Collagen VIII and elastin exert opposing regulation of smooth muscle cell phenotypes.
Arterial stiffening is a significant predictor of cardiovascular disease development and mortality. In elastic arteries, stiffening refers to the loss and fragmentation of elastic fibers, with a progressive increase in collagen fibers. Type VIII collagen (Col-8) is highly expressed developmentally, and then once again dramatically upregulated in aged and diseased vessels characterized by arterial stiffening. Yet its biophysical impact on the vessel wall remains unknown. The purpose of this study was to test the hypothesis that Col-8 functions as a matrix scaffold to maintain vessel integrity during extracellular matrix (ECM) development. These changes are predicted to persist into the adult vasculature, and we have tested this in our investigation. Through our in vivo and in vitro studies, we have determined a novel interaction between Col-8 and elastin. Mice deficient in Col-8 (Col8−/−) had reduced baseline blood pressure and increased arterial compliance, indicating an enhanced Windkessel effect in conducting arteries. Differences in both the ECM composition and VSMC activity resulted in Col8−/− carotid arteries that displayed increased crosslinked elastin and functional distensibility, but enhanced catecholamine-induced VSMC contractility. In vitro studies revealed that the absence of Col-8 dramatically increased tropoelastin mRNA and elastic fiber deposition in the ECM, which was decreased with exogenous Col-8 treatment. These findings suggest a causative role for Col-8 in reducing mRNA levels of tropoelastin and the presence of elastic fibers in the matrix. Moreover, we also found that Col-8 and elastin have opposing effects on VSMC phenotype, the former promoting a synthetic phenotype, whereas the latter confers quiescence. These studies further our understanding of Col-8 function and open a promising new area of investigation related to elastin biology.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
We aimed to examine the inconsistency between radiographic leg length discrepancy (R-LLD) and perceived LLD (P-LLD) in patients with dysplastic hip osteoarthritis and to evaluate the factors that can ...cause such inconsistency.
We conducted a retrospective study on 120 patients. An inconsistent LLD was defined as a condition in which the P-LLD was shorter than the R-LLD by > 5 mm. We compared relevant data on the general characteristics of the patients and the radiological findings between consistent (group E, 92 cases 76.7%) and inconsistent LLDs (group S, 28 cases 23.3%).
The number of patients with a history of hip surgery on the affected side and the Japanese Orthopedic Association classification pain scores were significantly higher in group S than in group E (32.1% vs. 10.8%, respectively; P = 0.015, and 21.7 ± 7.0 vs. 17.5 ± 8.2, respectively; P = 0.036). The pelvic oblique angle and length of the R-LLD were significantly higher in group S than in group E (2.9 ± 2.5° vs. 0.3 ± 2.3°, respectively; P < 0.01, and 17.2 ± 8.9 mm vs. 6.3 ± 8.4 mm, respectively; P < 0.01). Multivariate logistic analysis revealed that the pelvic oblique angle (odds ratio OR: 1.80, 95% confidence interval CI: 1.28-2.52; P < 0.01) and length of the R-LLD (OR: 2.75, 95% CI: 1.24-6.12; P = 0.013) were independent risk factors of inconsistent LLD.
The pelvic oblique angle and a long R-LLD were independent risk factors of inconsistent LLD in patients with dysplastic hip osteoarthritis. Therefore, hip surgeons should consider P-LLD rather than R-LLD to understand the need for conservative intervention.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
There are different patterns in the COVID-19 outbreak in the general population and amongst nursing home patients. We investigate the time from symptom onset to diagnosis and hospitalization or the ...length of stay (LoS) in the hospital, and whether there are differences in the population. Sciensano collected information on 14,618 hospitalized patients with COVID-19 admissions from 114 Belgian hospitals between 14 March and 12 June 2020. The distributions of different event times for different patient groups are estimated accounting for interval censoring and right truncation of the time intervals. The time between symptom onset and hospitalization or diagnosis are similar, with median length between symptom onset and hospitalization ranging between 3 and 10.4 days, depending on the age of the patient (longest delay in age group 20-60 years) and whether or not the patient lives in a nursing home (additional 2 days for patients from nursing home). The median LoS in hospital varies between 3 and 10.4 days, with the LoS increasing with age. The hospital LoS for patients that recover is shorter for patients living in a nursing home, but the time to death is longer for these patients. Over the course of the first wave, the LoS has decreased.
BACKGROUND—Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia. The associated morbidity and mortality make AF a major public health burden. Hospitalizations account for the ...majority of the economic cost burden associated with AF. The main objective of this study is to examine the trends of AF-related hospitalizations in the United States and to compare patient characteristics, outcomes, and comorbid diagnoses.
METHODS AND RESULTS—With the use of the Nationwide Inpatient Sample from 2000 through 2010, we identified AF-related hospitalizations using International Classification of Diseases, 9th Revision, Clinical Modification code 427.31 as the principal discharge diagnosis. Overall AF hospitalizations increased by 23% from 2000 to 2010, particularly in patients ≥65 years of age. The most frequent coexisting conditions were hypertension (60.0%), diabetes mellitus (21.5%), and chronic pulmonary disease (20.0%). Overall in-hospital mortality was 1%. The mortality rate was highest in the group of patients ≥80 years of age (1.9%) and in the group of patients with concomitant heart failure (8.2%). In-hospital mortality rate decreased significantly from 1.2% in 2000 to 0.9% in 2010 (29.2% decrease; P<0.001). Although there was no significant change in mean length of stay, mean cost of AF hospitalization increased significantly from $6410 in 2001 to $8439 in 2010 (24.0% increase; P<0.001).
CONCLUSIONS—Hospitalization rates for AF have increased exponentially among US adults from 2000 to 2010. The proportion of comorbid chronic diseases has also increased significantly. The last decade has witnessed an overall decline in hospital mortality; however, the hospitalization cost has significantly increased.
Postoperative limb length discrepancy (LLD) is a common complication of total hip arthroplasty, and several methods exist to prevent LLD, but each has its benefits and drawbacks. The study ...investigates the application of intraoperative lower limb length measurement in preventing postoperative LLD.
This study retrospectively analyzed 70 patients who underwent total hip arthroplasty from October 2018 to July 2022. The length of the lower limb on the operated side was measured intraoperatively using a sterilized paper ruler after the fitting of the trial mould and compared with the healthy side. Then the prosthesis size, depth and neck length were adjusted accordingly.
The absolute value of postoperative LLD was found to be 6.68 ± 4.48 mm, of which 53 cases (75.7%) were less than or equal to 10 mm, while 30 patients (42.9%) were less than or equal to 5 mm.
The use of intraoperative measurement is effective in reducing LLD after total hip arthroplasty.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
In order to calculate the length–weight and length–to–length relationships for red mullet Mullus barbatus ponticus Essipov, 1927 in Turkish marine waters, samples were collected from the Marmara Sea, ...the Northern Aegean Sea and the Western Black Sea by trawler from 2013 through 2016 fishing season. In the study in which 1,756 individuals were sampled, the number and proportion of individuals obtained from the Western Black Sea Region was 9.7% with 171 individuals from Amasra and 65.3% with 1,148 individuals from Ereğli; it was 1.7% with 30 individuals from the Marmara Sea, while it was 23.2% with 407 individuals from the North Aegean Sea. The total length was 6.3 to 20.5 cm, while the weight ranged from 2.54 to 89.53 g. In addition, 49 length–weight relationship values were examined from the literature of red mullet sampled in Turkish marine waters from 1977 to 2017. The smallest b value was determined as 2.84 from Iskenderun Bay and the highest was 3.3916 from the Izmir Bay. The median value of b was 3.188; it was observed that 50% of the b values ranged from 3.092 to 3.26.
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