The PAI-I Gene 4G/5G Polymorphism and Central Nervous System Bleeding In Factor XIII Deficiency

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4782-4782 ◽  
Author(s):  
Majid Naderi ◽  
Akbar Dorgalaleh ◽  
Shaban Alizadeh ◽  
Shadi Tabibian ◽  
Bamedi Taregh ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Conflicts Of Interest ◽  
Clinical Manifestations ◽  
Control Group ◽  
Severe Bleeding ◽  
Bleeding Tendency ◽  
Intraparenchymal Hemorrhage ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
And Control

Background FXIII deficiency is one of the rare bleeding disorder (RBD) that has a highest incidence in Sistan and Baluchistan province around the world. This disorder represents with different clinical manifestations ranging from mild to severe bleeding tendency including CNS bleeding. The aim of this study is to evaluate the role of PAI-14G/5Gpolymorphism in central nervous bleeding (intra and extracranial hemorrhage) system in factor XIII deficiency. Methods In this case control study was studied 32 FXIII deficient patients with CNS bleeding and also 32 patients with factor XIII deficiency without history of CNS bleeding as control group. Initially both groups were evaluated for the previously reported polymorphism of factor XIII (Trp187Argpolymorphism) in order to confirm their disorder. Then all patients were assessed for PAI-14G/5G polymorphism. Eventually obtained data was analyzed by SPSS software. Results The result of this study revealed that all study patients were homozygote for Trp187Arg polymorphism. We also found that the equal numbers of patients (4 individuals) in case and control groups were heterozygote for PAI-14G/5G polymorphism and none of patients were homozygote for this polymorphism. All heterozygote patients had intracranial hemorrhage and patients with extracranial hemorrhage had no mutation of PAI-14G/5G. Intraparenchymal was the most common site of hemorrhage and was observed in 26 patients (92.8%).We also observed subdural and epidural hemorrhage in two patients (7.1%).Anatomic regions in patients with intraparenchymal hemorrhage, were temporal in nine (32.2%), occipital in eight (28.6%), diffused intraparenchymal hemorrhage in seven (25%), tempro-occipital in two (7.1%) and subdural with temporal in two (7.1%) patients. Conclusion: It seems that PAI-14G/5G polymorphism did not any effect on occurrence of intra and extracranial hemorrhage in patients with factor XIII deficiency. Disclosures: No relevant conflicts of interest to declare.

Clinical Manifestations and Bleeding Episodes Among Heterozygote Individuals of Factor XIII Deficiency, a Short Term Prospective Study

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2852-2852 ◽  
Author(s):  
Majid Naderi ◽  
Akbar Dorgalaleh ◽  
Shaban Alizadeh ◽  
Shadi Tabibian ◽  
Soudabeh Hosseini ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Normal Population ◽  
Clinical Manifestations ◽  
Control Group ◽  
Case Group ◽  
Bleeding Tendency ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
Bleeding Episodes ◽  
Bleeding Score

Abstract Background Factor XIII deficiency (FXIIID) is a rare bleeding disorder (RBD) with high bleeding tendency. A wide spectrum of bleeding episodes was reported in patients with severe FXIIID. These bleeding diathesis include delay wound bleeding, intracranial hemorrhage, epistaxis and gum bleeding. A plasma level 3% to 10% of factor XIII is sufficient to prevent occurrence of bleeding in these patients. Here we design a study with two groups including heterozygote of FXIIID and normal population as a control group to assessed present of bleeding episodes in heterozygote patients. Method This prospective study was carried out on 53 (50 females and 3 males) heterozygote patients of FXIIID as well as the same number of normal population in duration of 3 months. All heterozygote individuals were selected from homozygote patients’ family. Healthy individuals were selected randomly from different parts of provinces. Both groups were age and sex matched (p=0.3). All individuals were assessed for factor XIII deficiency by FXIII activity assay and molecular analysis for Trp187Arg; the only previously reported polymorphism of factor XIII-A subunit in southeast Iran. Initially the clinical manifestations of all cases were assessed retrospectively and recorded. Then we assessed and compared the bleeding tendency in both groups by using the adult bleeding questionnaire and in one-month intervals. Results The mean ages of study populations were 34.8±8.4 (Ranges from 20 to 48 years) and 33.9±9.1 (Ranges from 21 to 49.5 years) in case and control groups, respectively. FXIII activity of the patient group was between 50-70 % and molecular analysis revealed that all the patients were heterozygote for Trp187Arg mutation. By regards to ethnicity, most of individuals in case group were Baluch (Number: 50 (94.3%)) and remained minority was Zaboli (Number: 3 (5.7%)). Distribution of ethnicity among case group was completely matched with control group (p=0.3). None of study individuals had a history of liver or kidney diseases or other bleeding susceptibility disorders. Clinical investigations indicated that 3 patients had a history of umbilical cord bleeding and delayed separation of the umbilical cord which led to administration of FXIII concentrate. All the 3 patients later presented with delayed post-circumcision bleeding. The mean age of menorrhagia in 50 females was 13.9±1.1 (Ranges from 12 to 16 years). Menstrual intervals range from 20 to 60 days with a mean of 29±5.2 days, but half of the patients had a normal interval of 30 days. Twenty three females had experienced menstruations with the need for a new pad every 2 hours. Among affected females 15 had an abnormal menstruation with duration of more than 7 days. Eight females were complicated by menorrhagia. This phenomenon observed in only one female of control group and therefore a significant difference was found between cases and controls (p<0.014). Sixteen patients had experienced at least one spontaneous miscarriage and the time of abortion in 10 females was in first trimester. One patient had a history of 3 spontaneous abortions. All abortions were followed by prolonged bleedings which led to administration of FXIII concentrate. The incidence of spontaneous abortions between cases and controls was statistically significant (p <0.001). All the observed clinical manifestations and the bleeding score in both groups are given in table1. Conclusion: Our findings indicated that heterozygote carriers of FXIIID may be complicated by substantial bleeding events which may threat the life and lead to the requirement of prophylaxis administration. Key words: Factor XIII deficiency, Heterozygote, Clinical manifestation Abstract 2852. Table 1.Prevalence of clinical manifestations in heterozygote patients of FXIIID and the bleeding score of both groups.Bleeding diathesisNumber of affected patients (%)Mean bleeding score of patients groupMean bleeding score of control groupSurgery *17(32.1%)10Bruising16(30.2%)30Miscarriage**16(32%)--Menorrhagia**8(16%)20Post delivery**8(16%)20After minor trauma6(11.3%)10Epistaxis4(7.5%)3-40Urinary or fecal blood3(5.6%)10Oral cavity3(5.6%)20Dental1(1.9%)40 *Seventeen patients had surgery among which 16 had bleeding during surgery and 1 had bleeding post surgery. **The percentage of these symptoms is calculated among 50 affected females. Disclosures No relevant conflicts of interest to declare.

Molecular Analysis Of The Largest Group Of Patients With Factor XIII Deficiency In Southeast Of Iran

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4780-4780 ◽  
Author(s):  
Majid Naderi ◽  
Akbar Dorgalaleh ◽  
Shaban Alizadeh ◽  
Shadi Tabibian ◽  
Taregh Bamedi ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Factor Xiii ◽  
Conflicts Of Interest ◽  
Clinical Manifestations ◽  
Molecular Characteristics ◽  
Common Mutation ◽  
Factor Xiii Deficiency ◽  
Large Group ◽  
Number Of Patients ◽  
A Subunit

Background Factor XIII deficiency is an extremely rare hemorrhagic disorder with estimated incidence of 1/3000000 million. Sistan and Baluchistan, southeast of Iran has the highest prevalence of disease worldwide. Thus the aim of this study was to assess molecular characteristics of this large group of patients with factor XIII deficiency. Methods This descriptive study was conducted on one hundred and nineteen patients from same number of unrelated families. Genotype analysis for factor XIII subunit A Val34Leu, Tyr204Phe, and Pro564Leu and Trp187Arg was performed for all patients. Results Molecular analysis of this large group of patients with severe factor XIII deficiency revealed that all studied patients were homozygous for TGG CGG mutation at codon 187, in exon 4 of FXIII-A1 gene. Val34Leu, Tyr204Phe, and Pro564Leu FXIII-A subunit gene polymorphisms were not observed in any of patients. In the study population, umbilical cord bleeding, deep soft tissue and hematoma were the most common clinical manifestations and was observed in 82.5%, 53% and 31% respectively. Conclusion Trp187Arg is the most common mutation of FXIII-A subunit in southeast of Iran and probably due to the large number of patients in this area (352 patients), is the most common mutation of factor XIII worldwide. Disclosures: No relevant conflicts of interest to declare.

New Families with Hereditary Hemorrhagic Trait due to Deficiency of Fibrin Stabilizing Factor (F. XIII)

1968 ◽  
Vol 20 (03/04) ◽  
pp. 534-541 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Inheritance ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
Congenital Factor

SummarySevere hemorrhagic disorder due to congenital factor XIII deficiency is described in two unrelated Norwegian girls.Plasma cephalin time was for both patients extraordinarily short during episodes of bleeding and hematomas. No such hyperactivity reaction was demonstrable in unaffected condition some months later.Estimations of blood factor XIII levels revealed a partial defect in the parents of both children, and also in some other family members, consistent with an autosomal incompletely recessive inheritance of the defect. Some of the presumptive heterozygotes had a history of light bleeding phenomenons; whether this was related to their partial lack of factor XIII is so far uncertain.

THE RISK FACTORS OF MOLAR PREGNANCY

2017 ◽  
pp. 53-58
Author(s):  
Lam Huong Le
Keyword(s):  
High Risk ◽  
Gestational Trophoblastic Disease ◽  
Living Standard ◽  
Control Group ◽  
Uterine Perforation ◽  
Molar Pregnancy ◽  
Health It ◽  
Pregnancy Risk ◽  
History Of ◽  
And Control

Objectives: Molar pregnancy is the gestational trophoblastic disease and impact on the women’s health. It has several complications such as toxicity, infection, bleeding. Molar pregnancy also has high risk of choriocarcinoma which can be dead. Aim: To assess the risks of molar pregnancy. Materials and Methods: The case control study included 76 molar pregnancies and 228 pregnancies in control group at Hue Central Hospital. Results: The average age was 32.7 ± 6.7, the miximum age was 17 years old and the maximum was 46 years old. The history of abortion, miscarriage in molar group and control group acounted for 10.5% and 3.9% respectively, with the risk was higher 2.8 times; 95% CI = 1.1-7.7 (p<0.05). The history of molar pregnancy in molar pregnancy group was 9.2% and the molar pregnancy risk was 11.4 times higher than control group (95% CI = 2.3-56.4). The women having ≥ 4 times births accounted for 7.9% in molar group and 2.2% in control group, with the risk was higher 3.8 times, 95% CI= 1.1-12.9 (p<0.05). The molar risk of women < 20 and >40 years old in molar groups had 2.4 times higher than (95% CI = 1.1 to 5.2)h than control group. Low living standard was 7.9% in molar group and 1.3% in the control group with OR= 6.2; 95% CI= 1.5-25.6. Curettage twice accounted for 87.5%, there were 16 case need to curettage three times. There was no case of uterine perforation and infection after curettage. Conclusion: The high risk molar pregnancy women need a better management. Pregnant women should be antenatal cared regularly to dectect early molar pregnancy. It is nessecery to monitor and avoid the dangerous complications occuring during the pregnancy. Key words: Molar pregnancy, pregnancy women

scholarly journals A community-based randomized trial for the prevention and control of brucellosis among rural populations in Iran: application of the PRECEDE planning model

2020 ◽  
Author(s):  
Leila Jahangiry ◽  
Maryam Khazaee-Pool ◽  
Towhid Babazadeh ◽  
Parvin Sarbakhsh ◽  
Koen Ponnet
Keyword(s):  
Prevention And Control ◽  
Intervention Program ◽  
Controlled Trial ◽  
Animal Health ◽  
Public Health Problem ◽  
Control Program ◽  
Control Group ◽  
Community Based ◽  
History Of ◽  
And Control

Abstract Background: Brucellosis is one of the most frequently occurring zoonotic diseases of veterinary and a public health problem in developing countries. It affects human and animal health and has measurable effects on the productive and reproductive performance of livestock. Therefore, the main purpose of this study was to develop a community-based intervention program for brucellosis prevention and control. A two-arm parallel cluster randomized controlled trial investigated the effectiveness of the program over six months in a rural population in Ahar, East Azerbaijan, Iran. A total of 16 village health houses were randomly allocated to the intervention and the control groups (eight per arm), and 400 participants were recruited via household health records in the health houses. The PRECEDE model, which is an acronym for Predisposing, Reinforcing and Enabling Constructs in Educational Diagnosis and Evaluation, was used to design, implement, and evaluate the brucellosis prevention and control program. Knowledge, attitudes, self-efficacy, social support, environmental enabling, and behavioral factors were measured at the baseline and the six-month follow-up. A generalized mixed effects model was used to analyze data. Results: The mean ages (SD) of the intervention and control group respondents were 35.9 (11.87) and 37.28 (11.04) years, respectively. After the six-month intervention, significant between-group differences were found on all PRECEDE variables, adjusted for education, history of brucellosis, and family history of brucellosis. Conclusion: There is a need to consolidate collaborative health and veterinary sector efforts, as well as increase regular vaccination practices and financial resources to support farmers willing to slaughter animals and/or offer slaughter facilities. The present study was able to demonstrate which educational and ecological factors influence behaviors and environments related to brucellosis and, as such, provide evidence of the effectiveness of interventions based on the PROCEDE model.

scholarly journals Analytical epidemiology of multiple sclerosis in the Republic of Kabardino-Balkaria

2021 ◽  
Vol 13 (1S) ◽  
pp. 10-14
Author(s):  
L. B. Tlapshokova ◽  
A. R. Zikhova
Keyword(s):  
Risk Factors ◽  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Scarlet Fever ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Control Group ◽  
Place Of Residence ◽  
History Of ◽  
The Republic

Multiple sclerosis (MS) is a common autoimmune disease, which etiology includes a complex of genetic and environmental factors. Data suggests that their interaction can influence the age of the clinical manifestations and the course of the disease. Therefore, the study of risk factors of MS in regions with different ethnic compositions of the population and climatic and geographical characteristics is of considerable interest.Objective: to study MS risk factors prevalence in the Republic of Kabardino-Balkaria (RKB).Patients and methods. This case-control study of the representation of risk factors included a cohort of 112 MS patients living in two regions of the RKB (Nalchik and the Prokhladnensky district). The MS diagnosis was established with the McDonald criteria (2017). MS risk factors were assessed with a unified questionnaire. 112 respondents (matched by the main demographic characteristics and place of residence) were included in the control group.Results and discussion. MS patients from the Prokhladnensky district were significantly more likely to contact harmful chemical compounds, had higher consumption of smoked meat products; and suffered from viral infections more often (all differences were significant, p<0.05). More patients with MS, regardless of their place of residence, had a history of scarlet fever than the controls (n=23; 19.5% and n=14; 13.4%, ratio indicator 0.43 (95% CI 0.32–1.01), p=0.041), and the maximum significance of this factor was found in patients who suffered from scarlet fever after the age of 15 years (n=7; 6.3% and n=1; 0.9%, ratio indicator 2.45 (95% CI 1.92–3.21), p=0.041). More patients with MS had a history of chickenpox (n=70; 62.5% and n=55; 41.1%; ratio indicator 0.78 (95% CI 0.65–0.94, p=0.032), the frequency of this factor was most significant in early (up to 7 years) disease onset. Regardless of the place of residence, patients with MS were more likely to suffer from tonsillitis and sinusitis in childhood (p=0.032).Conclusion. In the RKB, as in other regions of the Russian Federation, the risk of MS, along with a genetic predisposition, is primarily determined by environmental factors, such as contact with potentially harmful chemicals, history of somatic diseases, characteristics of the ecological situation, etc. Therefore, MS risk is higher in people exposed to these factors before the age of 7 years and does not depend on the place of residence. 

Platelet Function in Various Haemorrhagic Disorders

1975 ◽  
Author(s):  
T. Mandalaki ◽  
C. Dimitriadou
Keyword(s):  
Platelet Aggregation ◽  
Density Gradient ◽  
Platelet Function ◽  
Factor Xiii ◽  
Platelet Rich Plasma ◽  
Bleeding Tendency ◽  
Factor Xiii Deficiency ◽  
Haemorrhagic Diathesis

Platelet aggregation by ADP, collagen, thrombin and ristocetin was studied systematically both in citrate platelet rich plasma and isolated platelets by density gradient using albumine (according to Nicholls and Hampton) in various cases of congenital haemorrhagic diathesis, namely v. Willebrand disease, Glanzmann disease (thrombasthenia), Thrombopathy (PF3, defect), Factor XIII deficiency and in unclassified hereditary haemorrhagic disorders as well as in acquired bleeding tendency. According to the platelet abnormalities found during this study a classification of “Thrombopathies” observed in Greece is attempted.

scholarly journals Olfactory Dysfunction in β Thalassemia Major Patients Treated With Iron-Chelating Agents

2019 ◽  
Vol 98 (8) ◽  
pp. NP125-NP130
Author(s):  
Serhan Derin ◽  
Selvet Erdogan ◽  
Murat Sahan ◽  
Mehmet Fatih Azik ◽  
Hatice Derin ◽  
...  
Keyword(s):  
Chelating Agents ◽  
Thalassemia Major ◽  
Olfactory Dysfunction ◽  
Facial Trauma ◽  
Control Group ◽  
Control Groups ◽  
History Of ◽  
And Control ◽  
Iron Chelating Agents

Ocular and ophthalmological adverse effects may be seen in β-thalassemia major (BTM) patients treated with regular blood transfusions and iron-chelating agents. We hypothesized that olfactory dysfunction may be present in this population. In this study, we aimed to investigate olfactory dysfunction in patients with BTM and determine the etiological factors. A total of 43 patients with BTM were included in the study. Forty-three patients without any nasal complaints, history of facial trauma, or nasal surgery were included as the controls. All participants had nasal endoscopy. The iron-chelating agents used, their duration of use, as well as hemoglobin and ferritin levels of the BTM patients were recorded. Sniffin’ Sticks test (SST) was used to assess olfactory functions, and BTM and control groups were compared for the results. The correlations of SST scores with the other study parameters were analyzed. Eight (18.6%) of 43 patients in the BTM group had hyposmia while none of the patients in the control group had hyposmia ( P < .001). Older age, low-hemoglobin level, and longer use of deferoxamine were found to be correlated with olfactory dysfunction. Olfactory dysfunction may be seen in BTM patients treated with iron-chelating agents. The results of this study suggest that screening for olfactory function may be needed in routine follow-up of BTM patients.

FIBRINOGEN BIRMINGHAM; A NEW CONGENITAL HETERODIMERIC DYSFIBRINOGENEMIA WITH DEFECTIVE FIBRINOPEPTIDE A RELEASE (Aα 16 Arg→His)

1987 ◽  
Author(s):  
K R Siebenlist ◽  
J T Prchal ◽  
M W Masesson
Keyword(s):  
Amino Acid ◽  
Amino Acid Analysis ◽  
Hplc Analysis ◽  
Biochemical Characterization ◽  
Clinical Manifestations ◽  
Severe Bleeding ◽  
Fibrinopeptide A ◽  
History Of ◽  
Bleeding Episodes

Aα 16 Arg→His substitutions are common forms of congenital dysfibrinogenemias. Clinical manifestations range from asymptomatic to moderate hemorrhagic tendencies. Biochemical characterization of one such heterozygotic individual (Fibrinogen Louisville, Galanakis, etal. Ann NY Acad Sci 408:644,1983) indicated that only homodimeric fibrinogen molecules (i.e., containing either normal or abnormal Aα chains) were present. We isolated fibrinogen from the plasma of a 23 year old patient with a history of easy bruising and several recent moderate to severe bleeding episodes. Coagulability with reptilase was 677 (65-70%; n=5) whereas with thrombin (Ha) it approached 100%, depending directly upon the time of incubation with enzyme. HPLC analysis of Ila-induced fibrinopeptide release demonstrated the presence of an abnormal A-peptide (A*), amounting to 50% of the total, which was released more slowly than the normal A-peptide (A). Amino acid analysis of A* demonstrated the absence of Arg and the presence of His. Carboxypeptidase digestion confirmed the structure of A* as Aα 16 Arg-→ His. The clot and the soluble clot liquor resulting from reptilase treatment were separated and each was then further treated with Ilato release A*. HPLC analysis indicated that 31% of the total A* present in the sample was associated with the reptilase clot and 697 remained in the clot liquor. This distribution of A* suggests that Fibrinogen Birmingham, unlike Fibrinogen Louisville, contains heterodimeric molecules that are incorporated into the reptilase clottable fraction. This finding is consistent with a process of random hepatic assembly of dimeric fibrinogen molecules in a heterozygotic individual.

scholarly journals COVID-19 in Hospitalized Adults With HIV

2020 ◽  
Vol 7 (8) ◽  
Author(s):  
Kate Stoeckle ◽  
Carrie D Johnston ◽  
Deanna P Jannat-Khah ◽  
Samuel C Williams ◽  
Tanya M Ellman ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Invasive Mechanical Ventilation ◽  
Clinical Manifestations ◽  
Supplemental Oxygen ◽  
Control Group ◽  
Electronic Health Record Data ◽  
Duration Of Symptoms ◽  
Radiographic Findings ◽  
Presenting Symptoms ◽  
And Control

Abstract Background The spread of SARS-CoV-2 and the COVID-19 pandemic have caused significant morbidity and mortality worldwide. The clinical characteristics and outcomes of hospitalized patients with SARS-CoV-2 and HIV co-infection remain uncertain. Methods We conducted a matched retrospective cohort study of adults hospitalized with a COVID-19 illness in New York City between March 3, 2020, and May 15, 2020. We matched 30 people with HIV (PWH) with 90 control group patients without HIV based on age, sex, and race/ethnicity. Using electronic health record data, we compared demographic characteristics, clinical characteristics, and clinical outcomes between PWH and control patients. Results In our study, the median age (interquartile range) was 60.5 (56.6–70.0) years, 20% were female, 30% were black, 27% were white, and 24% were of Hispanic/Latino/ethnicity. There were no significant differences between PWH and control patients in presenting symptoms, duration of symptoms before hospitalization, laboratory markers, or radiographic findings on chest x-ray. More patients without HIV required a higher level of supplemental oxygen on presentation than PWH. There were no differences in the need for invasive mechanical ventilation during hospitalization, length of stay, or in-hospital mortality. Conclusions The clinical manifestations and outcomes of COVID-19 among patients with SARS-CoV-2 and HIV co-infection were not significantly different than patients without HIV co-infection. However, PWH were hospitalized with less severe hypoxemia, a finding that warrants further investigation.

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