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Prenatal exclusion of severe factor VII deficiency

Ariffin H, Millar DS, Cooper DN, Chow T, Lin HP

J Pediatr Hematol Oncol, 2003 May;25(5):418-20.
PMID: 12759632

A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation. Our experience with the family reported here further supports the conclusion that mutation-specific detection is reliable in the prenatal exclusion of severe bleeding disorders.

Matched MeSH terms: Factor VII Deficiency/diagnosis*; Factor VII Deficiency/genetics
Congenital factor VII deficiency presenting as iron deficiency anaemia--Case report

Zulkifli A

Med J Malaysia, 1979 Jun;33(4):360-1.
PMID: 522751
Matched MeSH terms: Factor VII Deficiency/complications*
Fulltext Recurrent intracranial haemorrhages in a patient with factor seven deficiency: a case report

Fadzil F

Med J Malaysia, 2011 Aug;66(3):261-3.
PMID: 22111455

Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder. Clinical bleeding can vary widely and does not always correlate with the level of FVII coagulant activity measured in plasma. Most severe cases of factor VII (FVII) deficiency are diagnosed during childhood, often during the first 6 months of life. In infancy, the most common sites of bleeding occur in the gastrointestinal tract or CNS, accounting for 60-70% of bleeds in this age group. Recombinant factor VIIa (rFVIIa) is one such agent, which has been shown to prevent hematoma expansion and improve outcome in acute intracranial haemorrhages. The purpose of this case report is to share our experience regarding the usefulness of rFVIIa in the management of acute intracranial haemorrhage.

Matched MeSH terms: Factor VII Deficiency/complications*; Factor VII Deficiency/diagnosis*; Factor VII Deficiency/therapy
Congenital factor VII deficiency: a case report

Zarina L, Hamidah A, Rohana J, Faraizah AK, Noryati AA, Jamal R, et al.

Malays J Pathol, 2004 Jun;26(1):65-7.
PMID: 16190109

Factor VII deficiency is a rare congenital blood disorder. Its clinical features are rather variable and ranges from epistaxis to massive intracranial haemorrhage. Treatment involves replacement therapy, which constitutes use of fresh frozen plasma, prothrombin complex concentrates or recombinant activated factor VII. Although it is a rare entity, one still needs to consider it as a probable diagnosis in a newborn with coagulopathy. We report here a case of Factor VII deficiency in a newborn who presented with subdural haemorrhage at day 4 of life.

Matched MeSH terms: Factor VII Deficiency/diagnosis*; Factor VII Deficiency/pathology; Factor VII Deficiency/therapy
Factor VII deficiency in an East Indian family

Lopez CG, Thiruselvam A, Hutton RA

Clin Lab Haematol, 1982;4(4):411-5.
PMID: 7166027 DOI: 10.1111/j.1365-2257.1982.tb00486.x
Matched MeSH terms: Factor VII/analysis; Factor VII Deficiency/genetics*
A Novel Mini Protein Design of Haloalkane Dehalogenase

Daud NH, Leow TC, Oslan SN, Salleh AB

Mol Biotechnol, 2019 Mar 27.
PMID: 30919327 DOI: 10.1007/s12033-019-00169-3

The application of native enzymes may not be economical owing to the stability factor. A smaller protein molecule may be less susceptible to external stresses. Haloalkane dehalogenases (HLDs) that act on toxic haloalkanes may be incorporated as bioreceptors to detect haloalkane contaminants. Therefore, this study aims to develop mini proteins of HLD as an alternative bioreceptor which was able to withstand extreme conditions. Initially, the mini proteins were designed through computer modeling. Based on the results, five designed mini proteins were deemed to be viable stable mini proteins. They were then validated through experimental study. The smallest mini protein (model 5) was chosen for subsequent analysis as it was expressed in soluble form. No dehalogenase activity was detected, thus the specific binding interaction of between 1,3-dibromopropane with mini protein was investigated using isothermal titration calorimetry. Higher binding affinity between 1,3-dibromopropane and mini protein was obtained than the native. Thermal stability study with circular dichroism had proven that the mini protein possessed two times higher Tm value at 83.73 °C than the native at 43.97 °C. In conclusion, a stable mini protein was successfully designed and may be used as bioreceptors in the haloalkane sensor that is suitable for industrial application.

Matched MeSH terms: Factor VII
Fulltext Recombinant factor VII

Ng SC

Med J Malaysia, 1995 Dec;50(4):425.
PMID: 8668070
Matched MeSH terms: Factor VII/therapeutic use*
The effects of three factor VII polymorphisms on factor VII coagulant levels in healthy Singaporean Chinese, Malay and Indian newborns

Quek SC, Low PS, Saha N, Heng CK

Ann. Hum. Genet., 2006 Nov;70(Pt 6):951-7.
PMID: 17044869

Factor VII (FVII) is an independent risk factor for coronary artery disease. Three polymorphisms of the factor VII gene (F7) were studied in a group of healthy newborns comprising 561 Chinese, 398 Malays and 226 Asian Indians from Singapore. The allele frequencies of 3 polymorphisms (R353Q, Promoter 0/10bp Del/Ins and Intron 7) in the FVII gene were ascertained through genotyping by polymerase chain reaction and restriction digestion of amplified fragments. In Chinese the minor allele frequencies are Q: 0.04, Ins: 0.03, R7: 0.44; Malays, Q: 0.06, Ins: 0.10, R7: 0.41; and Indians, Q: 0.25, Ins: 0.23, R7: 0.43. Strong linkage disequilibrium (Delta > 0.7) is observed between the 0/10 bp and the R353Q sites in all ethnic groups. We conclude that: (i) the prevalence of the minor Q and Ins alleles of the R353Q and 0/10 bp polymorphisms are significantly higher in the Indian newborns than the Chinese and Malays; (ii) the Q allele is significantly associated (p = 0.01) with a lower plasma FVII coagulant level in the Indian and Malay neonates; and this polymorphism explains up to 3.8% of the variance in FVII coagulant levels; (iii) there is no significant difference in allele frequencies of the three polymorphisms between neonates with and without family histories of CAD.

Matched MeSH terms: Factor VII/genetics*; Factor VII/metabolism
Developmental haemostasis for factor V and factor VIII levels in neonates: a case report of spontaneous cephalhaematoma

Abdullah WZ, Ismail R, Nasir A, Mohamad N, Hassan R

Fetal Pediatr Pathol, 2013 Apr;32(2):77-81.
PMID: 22536947 DOI: 10.3109/15513815.2012.671447

Combined factor V and VIII deficiency is a rare bleeding disorder. Diagnosis of congenital coagulation factor deficiency in a neonate is challenging due to "immaturity" of the hemostatic system. A 2-day-old baby girl presented with spontaneous cephalhematoma. She was found to have persistent abnormal coagulation tests and finally diagnosed as combined factor V and VIII deficiency. Interestingly, factor V and factor VIII in developmental hemostasis are quite similar with adult levels in newborn, and hence early diagnosis is possible. An investigation to detect underlying hemostatic defects is recommended in newborns with spontaneous cephalhematoma.

Matched MeSH terms: Factor VII Deficiency/complications*
Fulltext Sport Commitment among Malaysian Racquet Sports Athletes

Ling A, Teo EW, Chin NS

Malays J Med Sci, 2019 Jul;26(4):86-93.
PMID: 31496897 MyJurnal DOI: 10.21315/mjms2019.26.4.10

Background: The Sport Commitment Model is widely used to understand the motivation and commitment of athletes to continue playing sports. However, the factors influencing athletes' commitment to racquet sports have not received much research attention, especially in Malaysia.
Purpose: This study aims to use the Sport Commitment Questionnaire-2 (SCQ-2) to examine Malaysian athletes' commitment to racquet sports.
Methods: A total of 612 athletes (367 males/245 females, μ age= 30.32 ± 11.56) completed the SCQ-2, which measures seven factors and two dimensions of sport commitment.
Results: The results revealed that sport enjoyment was the main factor contributing to the athletes' commitment in all sports. Two-way ANOVA analyses showed significant differences in athletes' enthusiastic commitment [F(3,604) = 44.92, P = 0.00] and constrained commitment [F(3,604) = 15.32, P = 0.00] across four sports. There were also significant differences in both enthusiastic commitment [F(3,604) = 7.53, P = 0.00] and constraint commitment [F(3,604) = 18.82, P = 0.00] across age groups.
Conclusion: Enjoyment is the main factor in sport commitment. Tennis athletes possess the highest level of enthusiastic commitment across all the racquet sports. Moreover, male athletes showed higher levels of enthusiastic commitment than female athletes.

Matched MeSH terms: Factor VII
Fulltext Acute abdomen: unmasked the bleeding site in severe haemophilia A

Wan Suriana Wan Ab Rahman, Zefarina Zulkafli, Mohd Nazri Hassan, Wan Zaidah Abdullah, Azlan Husin, Anani Aila Mat Zain

Malaysian Journal of Medicine and Health Sciences, 2020;16(2):345-347.
MyJurnal

Haemophilia A is an inherited bleeding disorder, commonly involve soft tissues and joints. Gastrointestinal tract
bleeding, are not uncommon but seldom highlighted. A 23-year-old male with underlying severe haemophilia A was
presented with a generalised abdominal pain for 2 days, abdominal distension, diarrhoea and vomiting. He did not
have any trauma to the abdomen. Abdominal examination revealed generalized tenderness with sign of guarding
on palpation. Laboratory investigations revealed isolated, prolonged activated partial thromboplastin time (APTT)
with normal total white blood cell count and haemoglobin level. In view of acute abdomen, which was not resolved
by conservative treatment, an emergency laparotomy was done with FVIII concentrate and recombinant factor VII
(rFVII) coverage. Intraoperative findings noted patchy gangrenous spots of about 30 cm in length in the small bowel.
Histopathology examination revealed an evidence of haemorrhage within the submucosal and intramuscularis layer
from the resected specimen. This case highlighted the possibility of gastrointestinal bleeding without prior trauma,
which can be presented as acute abdomen in severe haemophilia patient.

Matched MeSH terms: Factor VII
Fulltext Development of multi-dimensional body image scale for malaysian female adolescents

Chin YS, Taib MN, Shariff ZM, Khor GL

Nutr Res Pract, 2008;2(2):85-92.
PMID: 20126371 DOI: 10.4162/nrp.2008.2.2.85

The present study was conducted to develop a Multi-dimensional Body Image Scale for Malaysian female adolescents. Data were collected among 328 female adolescents from a secondary school in Kuantan district, state of Pahang, Malaysia by using a self-administered questionnaire and anthropometric measurements. The self-administered questionnaire comprised multiple measures of body image, Eating Attitude Test (EAT-26; Garner & Garfinkel, 1979) and Rosenberg Self-esteem Inventory (Rosenberg, 1965). The 152 items from selected multiple measures of body image were examined through factor analysis and for internal consistency. Correlations between Multi-dimensional Body Image Scale and body mass index (BMI), risk of eating disorders and self-esteem were assessed for construct validity. A seven factor model of a 62-item Multi-dimensional Body Image Scale for Malaysian female adolescents with construct validity and good internal consistency was developed. The scale encompasses 1) preoccupation with thinness and dieting behavior, 2) appearance and body satisfaction, 3) body importance, 4) muscle increasing behavior, 5) extreme dieting behavior, 6) appearance importance, and 7) perception of size and shape dimensions. Besides, a multidimensional body image composite score was proposed to screen negative body image risk in female adolescents. The result found body image was correlated with BMI, risk of eating disorders and self-esteem in female adolescents. In short, the present study supports a multi-dimensional concept for body image and provides a new insight into its multi-dimensionality in Malaysian female adolescents with preliminary validity and reliability of the scale. The Multi-dimensional Body Image Scale can be used to identify female adolescents who are potentially at risk of developing body image disturbance through future intervention programs.

Matched MeSH terms: Factor VII