scholarly journals Extension of the Human Fibrinogen Database with Detailed Clinical Information—The αC-Connector Segment

2021 ◽  
Vol 23 (1) ◽  
pp. 132
Author(s):  
Zofie Sovova ◽  
Klara Pecankova ◽  
Pavel Majek ◽  
Jiri Suttnar
Keyword(s):  
Tandem Repeats ◽  
Consensus Sequence ◽  
Clinical Manifestations ◽  
Clinical Information ◽  
First Trimester ◽  
Human Fibrinogen ◽  
Synonymous Mutations ◽  
Nascent Chain ◽  
The Impact ◽  
Detailed Clinical Information

Fibrinogen, an abundant plasma glycoprotein, is involved in the final stage of blood coagulation. Decreased fibrinogen levels, which may be caused by mutations, are manifested mainly in bleeding and thrombotic disorders. Clinically relevant mutations of fibrinogen are listed in the Human Fibrinogen Database. For the αC-connector (amino acids Aα240–410, nascent chain numbering), we have extended this database, with detailed descriptions of the clinical manifestations among members of reported families. This includes the specification of bleeding and thrombotic events and results of coagulation assays. Where available, the impact of a mutation on clotting and fibrinolysis is reported. The collected data show that the Human Fibrinogen Database reports considerably fewer missense and synonymous mutations than the general COSMIC and dbSNP databases. Homozygous nonsense or frameshift mutations in the αC-connector are responsible for most clinically relevant symptoms, while heterozygous mutations are often asymptomatic. Symptomatic subjects suffer from bleeding and, less frequently, from thrombotic events. Miscarriages within the first trimester and prolonged wound healing were reported in a few subjects. All mutations inducing thrombotic phenotypes are located at the identical positions within the consensus sequence of the tandem repeats.

scholarly journals Rapid rise in paediatric COVID-19 hospitalisations during the early stages of the Omicron wave, Tshwane District, South Africa

2021 ◽  
Author(s):  
Jeane Cloete ◽  
Annelet Kruger ◽  
Maureen Masha ◽  
Nicolette M du Plessis ◽  
Dini Mawela ◽  
...  
Keyword(s):  
South Africa ◽  
Public Sector ◽  
Clinical Manifestations ◽  
Length Of Hospital Stay ◽  
Clinical Information ◽  
Primary Diagnosis ◽  
Rapid Rise ◽  
Sequencing Data ◽  
Long Term Impact ◽  
The Impact

Background South Africa reported a notable increase in COVID-19 cases from mid-November 2021 onwards, starting in Tshwane District, linked to rapid community spread of the Omicron variant. This coincided with a rapid rise in paediatric COVID-19-associated hospitalisations. Methods We synthesized data from five sources to describe the impact of Omicron on clinical manifestations and outcomes of hospitalized children (≤19 years) with positive SARS-CoV-2 tests in Tshwane District from 31 October to 11 December 2021, including: 1) COVID-19 line lists; 2) collated SARS-CoV-2 testing data; 3) SARS-CoV-2 genomic sequencing data; 4) COVID-19 hospitalisation surveillance; and 5) clinical data of public sector paediatric (≤13 years) COVID-19 hospitalisations. Findings During the six-week period 6,287 paediatric (≤19 years) COVID-19 cases were recorded in Tshwane District, of these 462 (7.2%) were hospitalized in 42 hospitals (18% of overall admissions). The number of paediatric cases was higher than in the prior 3 waves, uncharacteristically preceding adult hospitalisations. Of the 75 viral specimens sequenced from the district, 99% were Omicron. Detailed clinical information obtained from 139 of 183 (76%) admitted children (≤13 years; including all public sector hospitalisations) indicated that young children (0-4 years) were most affected (62%). Symptoms included fever (47%), cough (40%), vomiting (24%), difficulty breathing (23%), diarrhoea (20%) and convulsions (20%). Length of hospital stay was short (mean 3.2 days), and in 44% COVID-19 was the primary diagnosis. Most children received standard ward care (92%), with 31 (25%) receiving oxygen therapy. Seven children (6%) were ventilated; four children died, all related to complex underlying co-pathologies. All children and majority of parents for whom data were available were unvaccinated. Interpretation Rapid increases in paediatric COVID-19 cases and hospitalisations mirror high community transmission of SARS-CoV-2 (Omicron variant) in Tshwane District, South Africa. Continued monitoring is needed to understand the long-term impact of the Omicron variant on children.

scholarly journals Sociodemographic characteristics and clinical description of congenital syphilis patients and their mothers in Japan: a qualitative study, 2016

Sexual Health ◽  
2018 ◽  
Vol 15 (5) ◽  
pp. 460 ◽  
Author(s):  
Mizue Kanai ◽  
Yuzo Arima ◽  
Tomoe Shimada ◽  
Narumi Hori ◽  
Takuya Yamagishi ◽  
...  
Keyword(s):  
Prenatal Care ◽  
Congenital Syphilis ◽  
Clinical Manifestations ◽  
Clinical Information ◽  
Holistic Approach ◽  
First Trimester ◽  
Sociodemographic Characteristics ◽  
Commercial Sex Work ◽  
Lack Of Physicians ◽  
Sexually Transmissible Infections

Background In Japan, congenital syphilis (CS) notifications have increased recently. However, little is known about the CS cases or the clinical and sociodemographic characteristics of the patients’ mothers. Methods: Twelve cases of CS were reported through national surveillance in the period March–December 2016, and the mothers of seven patients were included in this study. The patients’ mothers and physicians completed a self-administered questionnaire, providing sociodemographic and clinical information of the patients and their mothers. In addition, we explored the awareness and knowledge of, attitudes towards and practices regarding CS occurrence through semistructured interviews with the mothers. Results: Of the seven CS patients, three were asymptomatic, with a range of non-specific clinical manifestations in the rest. The mothers tended to be of young age, unmarried and to have a history of commercial sex work, other sexually transmissible infections (STIs) and no or irregular prenatal care visits during pregnancy. Of the four mothers who had had regular prenatal care visits, two had tested negative for syphilis at the first trimester antenatal screening. Themes emerged that indicated challenges in preventing CS, including a lack of guidance or guidelines for physicians to consider testing for syphilis after the first trimester, lack of physicians’ awareness or experience of syphilis or CS and a lack of awareness or knowledge in pregnant women regarding STIs. Conclusions: Key characteristics of recent CS patients and their mothers in Japan were revealed, identifying previously reported factors as well as new challenges. A holistic approach, designed to address challenges at the level of the healthcare system, healthcare provider and the pregnant woman and her partner will be important in preventing CS.

scholarly journals The Role of TNF-α and Anti-TNF-α Agents during Preconception, Pregnancy, and Breastfeeding

2021 ◽  
Vol 22 (6) ◽  
pp. 2922
Author(s):  
Katarzyna Romanowska-Próchnicka ◽  
Anna Felis-Giemza ◽  
Marzena Olesińska ◽  
Piotr Wojdasiewicz ◽  
Agnieszka Paradowska-Gorycka ◽  
...  
Keyword(s):  
Inflammatory Cytokines ◽  
First Trimester ◽  
Endocrine Function ◽  
Necrosis Factor Alpha ◽  
Hormone Synthesis ◽  
Migratory Activity ◽  
Immune System Diseases ◽  
Tnf Α ◽  
The Impact ◽  
In Pregnancy

Tumor necrosis factor-alpha (TNF-α) is a multifunctional Th1 cytokine and one of the most important inflammatory cytokines. In pregnancy, TNF-α influences hormone synthesis, placental architecture, and embryonic development. It was also shown that increased levels of TNF-α are associated with pregnancy loss and preeclampsia. Increased TNF-α levels in complicated pregnancy draw attention to trophoblast biology, especially migratory activity, syncytialisation, and endocrine function. Additionally, elevated TNF-α levels may affect the maternal-fetal relationship by altering the secretory profile of placental immunomodulatory factors, which in turn affects maternal immune cells. There is growing evidence that metabolic/pro-inflammatory cytokines can program early placental functions and growth in the first trimester of pregnancy. Furthermore, early pregnancy placenta has a direct impact on fetal development and maternal immune system diseases that release inflammatory (e.g., TNF-α) and immunomodulatory factors, such as chronic inflammatory rheumatic, gastroenterological, or dermatological diseases, and may result in an abnormal release of cytokines and chemokines in syncytiotrophoblasts. Pregnancy poses a challenge in the treatment of chronic disease in patients who plan to have children. The activity of the disease, the impact of pregnancy on the course of the disease, and the safety of pharmacotherapy, including anti-rheumatic agents, in pregnancy should be considered.

scholarly journals Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Alice Massacci ◽  
Eleonora Sperandio ◽  
Lorenzo D’Ambrosio ◽  
Mariano Maffei ◽  
Fabio Palombo ◽  
...  
Keyword(s):  
Receptor Binding ◽  
Consensus Sequence ◽  
Cell Epitope ◽  
Vaccine Design ◽  
Binding Domain ◽  
Spike Protein ◽  
Antibody Activity ◽  
Binding Motif ◽  
Receptor Binding Domain ◽  
The Impact

Abstract Background Tracking the genetic variability of Severe Acute Respiratory Syndrome CoronaVirus 2 (SARS-CoV-2) is a crucial challenge. Mainly to identify target sequences in order to generate robust vaccines and neutralizing monoclonal antibodies, but also to track viral genetic temporal and geographic evolution and to mine for variants associated with reduced or increased disease severity. Several online tools and bioinformatic phylogenetic analyses have been released, but the main interest lies in the Spike protein, which is the pivotal element of current vaccine design, and in the Receptor Binding Domain, that accounts for most of the neutralizing the antibody activity. Methods Here, we present an open-source bioinformatic protocol, and a web portal focused on SARS-CoV-2 single mutations and minimal consensus sequence building as a companion vaccine design tool. Furthermore, we provide immunogenomic analyses to understand the impact of the most frequent RBD variations. Results Results on the whole GISAID sequence dataset at the time of the writing (October 2020) reveals an emerging mutation, S477N, located on the central part of the Spike protein Receptor Binding Domain, the Receptor Binding Motif. Immunogenomic analyses revealed some variation in mutated epitope MHC compatibility, T-cell recognition, and B-cell epitope probability for most frequent human HLAs. Conclusions This work provides a framework able to track down SARS-CoV-2 genomic variability.

scholarly journals Large papillary fibroelastoma of right atrium, an unusual case of respiratory distress in a young man

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yan Le Ho ◽  
Pui Fong Ng ◽  
Sotheenathan Krishinan ◽  
Basheer Ahamed Abdul Kareem
Keyword(s):  
Right Atrium ◽  
Clinical Manifestations ◽  
Clinical Information ◽  
Interatrial Septum ◽  
Papillary Fibroelastoma ◽  
Case Presentation ◽  
Intracardiac Masses ◽  
The Right ◽  
Embolic Risk

Abstract Background Papillary fibroelastomas are rare but benign cardiac tumour that are often found on cardiac valvular surfaces. Their clinical manifestations ranging from clinically asymptomatic to substantial complications that are usually secondary to systemic embolism. Multiple theories have been proposed to explain the pathophysiology of its formation. Case presentation We reported a rare case of large papillary fibroelastoma in the right atrium of a young gentleman which was complicated with pulmonary embolism. Transthoracic echocardiography identified a large pedunculated mass measuring 3.4cmX3.4cmX2cm in right atrium with stalk attached to interatrial septum. The intracardiac mass was resected surgically, which revealed papillary fibroelastoma in histology examination. Conclusion Differential diagnosis of intracardiac masses requires clinical information, laboratory tests and imaging modalities including echocardiography. Incidentally discovered papillary fibroelastomas are treated on the basis of their sizes, site, mobility and potential embolic complications. Due to the embolic risk inherent to intraacardiac masses, surgical resection represents an effective curative protocol in treating both symptomatic and asymptomatic right sided and left sided papillary fibroelastomas, with excellent long term postoperative prognosis.

Evaluation of Thyroid Function in Pregnant Women Using Automated Immunoassays

2021 ◽  
Author(s):  
K Aaron Geno ◽  
Matthew S Reed ◽  
Mark A Cervinski ◽  
Robert D Nerenz
Keyword(s):  
Pregnant Women ◽  
Equilibrium Dialysis ◽  
Reference Interval ◽  
First Trimester ◽  
Reference Intervals ◽  
Free Thyroxine ◽  
Specific Reference ◽  
Childbearing Age ◽  
Thyroid Autoantibody ◽  
The Impact

Abstract Introduction Automated free thyroxine (FT4) immunoassays are widely available, but professional guidelines discourage their use in pregnant women due to theoretical under-recoveries attributed to increased thyroid hormone binding capacity and instead advocate the use of total T4 (TT4) or free thyroxine index (FTI). The impact of this recommendation on the classification of thyroid status in apparently euthyroid pregnant patients was evaluated. Methods After excluding specimens with thyroid autoantibody concentrations above reference limits, thyroid-stimulating hormone (TSH), FT4, TT4, and T-uptake were measured on the Roche Cobas® platform in remnant clinical specimens from at least 147 nonpregnant women of childbearing age and pregnant women at each trimester. Split-sample comparisons of FT4 as measured by the Cobas and equilibrium dialysis were performed. Results FT4 decreased with advancing gestational age by both immunoassay and equilibrium dialysis. TSH declined during the first trimester, remained constant in the second, and increased throughout the third, peaking just before delivery. Interpretation of TT4 concentrations using 1.5-times the nonpregnant reference interval classified 13.6% of first trimester specimens below the lower reference limit despite TSH concentrations within trimester-specific reference intervals. Five FTI results from 480 pregnant individuals (about 1.0%) fell outside the manufacturer’s reference interval. Conclusions Indirect FT4 immunoassay results interpreted in the context of trimester-specific reference intervals provide a practical and viable alternative to TT4 or FTI. Declining FT4 and increasing TSH concentrations near term suggest that declining FT4 is not an analytical artifact but represents a true physiological change in preparation for labor and delivery.

scholarly journals Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sairish Ashraf ◽  
Shayaq Ul Abeer Rasool ◽  
Mudasar Nabi ◽  
Mohd Ashraf Ganie ◽  
Shariq R. Masoodi ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Clinical Manifestations ◽  
Additive Model ◽  
Genotypic Frequency ◽  
Ovary Syndrome ◽  
Significant Difference ◽  
Cyp19 Gene ◽  
Reproductive Endocrine ◽  
The Impact

AbstractPolycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.

scholarly journals Relationship between preterm birth and air pollution in Santos, Sao Paulo, Brazil

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
M E L Brandao ◽  
B A L F Braga ◽  
M L C Martins ◽  
P L A A Pereira
Keyword(s):  
Air Pollution ◽  
Preterm Birth ◽  
Air Pollutants ◽  
First Trimester ◽  
Sao Paulo ◽  
São Paulo ◽  
Air Humidity ◽  
Relative Air Humidity ◽  
The Impact ◽  
Fourth Quartile

Abstract Santos is a seaboard Brazilian city recognized by its port activity where the road and rail infrastructure along with the large transportation operation, displays an important factor to contribute with all kinds of toxic and air pollutants. Recent studies have suggested associations between air pollution and various birth outcomes. Pollutant gases such as NOx, O3 and particulate matter PM2,5, PM10 have been cited as factors involved in such outcomes. The present study aims to assess the relationship between atmospheric pollutants and perinatal outcomes in the city of Santos from Jan. 2012 to Dec. 2015. Cross-sectional study that analyzed 10.319 singleton births in an area set with 2 km radius of the monitoring stations. Birth weight and information on mother and pregnancy were obtained at the Brazilian “Born Alive National Information System”. Daily records of air pollutants (PM10, PM2.5, NO2 and O3), temperature and relative air humidity, for the study period, were obtained from São Paulo State Environmental Agency (CETESB). Associations between preterm birth and air pollutants mean levels at each gestational trimester were investigated using multiple logistic regression model controlled by the variables: infant sex, type of delivery, maternal education. prenatal care, and number of previous live births, temperature and relative air humidity. NO2 e PM2,5 was not associated with preterm birth. O3 was significantly associated in the first trimester in the fourth quartile (OR = 1,47 CI 95% 1,05; 2,07). PM10 was significantly associated in the first trimester for the fourth quartile (OR = 1,28 CI 95% 1,00; 1,64), second trimester for the second quartile (OR = 1,37 CI 95% 1,07; 1,77). Conclusions the results shows evidence that maternal exposure to air pollution especially during the first trimester of pregnancy may contribute to preterm birth. Further actions are needed towards controlling air pollution are strongly recommended for promoting early-life health. Key messages This is the first research of this kind that was made in Santos. It brings important evidence of the impact in the life of the population, especially those whose is not even born yet. It can be used as a resource to guide public policies in health, especially the guidelines that dictate the concentration of air pollutants and air quality.

scholarly journals The impact of antenatal care on under‐five mortality in Ethiopia: a difference‐in‐differences analysis

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Samuel Oduse ◽  
Temesgen Zewotir ◽  
Delia North
Keyword(s):  
Antenatal Care ◽  
Child Survival ◽  
First Trimester ◽  
Sub Saharan Africa ◽  
P Value ◽  
Difference In Differences ◽  
Under Five ◽  
Care Services ◽  
Sub Saharan ◽  
The Impact

Abstract Background Sub-Saharan Africa, as opposed to other regions, has the highest under-five mortality rates yet makes the least improvement in reducing under-five mortality. Despite the decline, Ethiopia is among the top ten countries contributing the most to global under-five mortalities. This article examines the impact of the number of antenatal care and the timing of first antenatal care on child health outcomes. We specifically investigated if the utilization of antenatal care services positively affects the reduction of under-five mortality. Methods We employ a difference-in-differences design with propensity score matching to identify direct causal effects of antenatal care on under-five mortality based on the Ethiopian Demographic Health Survey data of 2011 and 2016. Our sample includes 22 295 women between the ages of 14–49 who had antenatal care visits at different times before delivery. Results The study revealed 1 481 cases of reported under-five mortality. 99.0% of that under-five mortality cases are women who had less than eight antenatal care visits, while only 1% of that is by women who had eight or more antenatal care visits. Antenatal care visit decreases the likelihood of under-five mortality in Ethiopia by 45.2% (CI = 19.2–71.3%, P-value < 0.001) while the timing of first antenatal care within the first trimester decreases the likelihood of under-five mortality by 10% (CI = 5.7–15.6%, P-value < 0.001). Conclusions To achieve a significant reduction in the under-five mortality rate, Intervention programs that encourages more antenatal care visits should be considered. This will improve child survival and help in attaining Sustainable Development Goal targets.

scholarly journals A Case of COVID-19-Related Thrombocytopenia and Leukopenia in an Adolescent with Mild Symptoms

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 509
Author(s):  
Lydia Kossiva ◽  
Athanasios Thirios ◽  
Eleni Panagouli ◽  
Alexandros Panos ◽  
Stavroula Lampidi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Viral Infection ◽  
Nasal Congestion ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
White Blood Count ◽  
Chronic Obstructive ◽  
First Case ◽  
The Impact

Since the beginning of the COVID-19 pandemic, there have been numerous reports and reviews on the complications caused by the disease, analyzing the acute and chronic consequences. The main symptoms of SARS-CoV-2 are dry cough, fever, and fatigue. COVID-19 appears to affect all systems, including renal, cardiovascular, circulatory, and respiratory systems, causing chronic obstructive pulmonary disease. We report on a 14-year-old male adolescent, who presented with thrombocytopenia (platelet count 92 × 109 /L) and leukopenia (white blood count 4.2 × 103 /μL) that was observed two months ago. Ten days before the first blood test, a viral infection with nasal congestion and runny nose was reported, without other accompanying symptoms. Viral antibodies screening revealed positivity for all the three specific COVID-19 antibodies. Further haematological evaluation with bone marrow aspiration revealed non-specific dysplastic features of the red cell and megakaryocyte progenitors. Although haematological alterations due to COVID-19 infection are available from adult patients’ reports, the effect of COVID-19 infection in the pediatric population is underestimated and this is the first case with such haematological involvement. Noteworthy, in the current case, the impact of the COVID-19 infection was not related to the severity of the disease, as the symptoms were mild. In similar cases, bone marrow aspiration would not be performed as a part of routine work-up. Thus, it is important when evaluating pediatric patients with COVID-19 infection to search and report those alterations in order to better understand the impact and the spectrum of clinical manifestations of the specific viral infection in children and adolescents.

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