Factor VII deficiency is rare. It is an autosomal recessive inherited disease with an estimated prevalence of 1/1,000,000. We report the case of a newborn male from first-degree consanguineous parents admitted at 15 d...Factor VII deficiency is rare. It is an autosomal recessive inherited disease with an estimated prevalence of 1/1,000,000. We report the case of a newborn male from first-degree consanguineous parents admitted at 15 days of life due to a hemorrhagic syndrome. Hemostasis tests showed low prothrombin time (PT) and normal activated partial thromboplastin time (aPTT). A coagulation panel revealed isolated factor VII deficiency. In this case, we highlight the clinical, biological, and therapeutic aspects of this condition during the neonatal period.展开更多
BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth ...BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult.Recombinant factor VIIa is the most common replacement therapy for FVIID.However,no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.CASE SUMMARY We report the clinical history of a pregnant woman who was considered to have congenital FVIID.Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening.She successfully delivered a live infant without any complications,such as postpartum hemorrhage,neonatal abnormalities,and so on.CONCLUSION Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding.展开更多
<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I m...<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.展开更多
Altered biomechanics due to amputation can contribute to substantial limitations,influencing sporting activities.Individuals with lower extremity amputations or congenital lower limb deficiency are encouraged to parti...Altered biomechanics due to amputation can contribute to substantial limitations,influencing sporting activities.Individuals with lower extremity amputations or congenital lower limb deficiency are encouraged to participate in para-sports.However,to compete in Paralympic sports,the candidate must have an impairment that results in lower extremity loss of function and meets or exceeds the sport's minimum impairment criteria(MIC).This review will focus on the MIC for competitive wheelchair tennis.Limb deficiency is known as one of the MIC used to regulate participation in competitive para-sports since it impacts gait,kinematics,and biomechanics of both the upper and lower body.Notwithstanding,it is questionable whether the MIC concerning limb deficiency is set at the correct level for determining eligibility for participating in Paralympic sports.This study aims to provide an overview of the evidence examining the impact of different partial foot amputation(PFA)levels on gait as a proxy for sporting performance.This scoping review will be based on a 6-step methodological framework and Preferred Reporting Items for Systematic Reviews and Meta-Analysis,extension for scoping reviews(PRISMA-ScR).Studies will be selected from PubMed,Embase,CINAHL,and SPORTDiscus.Two authors will screen the titles/abstracts independently.Selected studies will be scrutinised,and the same authors will extract data.Findings will be relevant to informing the evidence-based development of MIC for lower limb impairment after PFA and may be extrapolated to specific Paralympic sports,including wheelchair tennis.Results will be disseminated through scientific publications and conferences to audiences interested in Paralympic sports.展开更多
文摘Factor VII deficiency is rare. It is an autosomal recessive inherited disease with an estimated prevalence of 1/1,000,000. We report the case of a newborn male from first-degree consanguineous parents admitted at 15 days of life due to a hemorrhagic syndrome. Hemostasis tests showed low prothrombin time (PT) and normal activated partial thromboplastin time (aPTT). A coagulation panel revealed isolated factor VII deficiency. In this case, we highlight the clinical, biological, and therapeutic aspects of this condition during the neonatal period.
基金Supported by Natural Science Foundation of Guangxi,No.2018JJB140171Medical Excellence Award Funded by the Creative Research Development Grant from the First Affiliated Hospital of Guangxi Medical University(2020)+1 种基金Development and Application of Appropriate Medical and Health Technologies in Guangxi,No.S2018111Self-funded Scientific Research Project of Guangxi Health Commission,No.Z20190512.
文摘BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult.Recombinant factor VIIa is the most common replacement therapy for FVIID.However,no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.CASE SUMMARY We report the clinical history of a pregnant woman who was considered to have congenital FVIID.Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening.She successfully delivered a live infant without any complications,such as postpartum hemorrhage,neonatal abnormalities,and so on.CONCLUSION Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding.
文摘<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.
文摘Altered biomechanics due to amputation can contribute to substantial limitations,influencing sporting activities.Individuals with lower extremity amputations or congenital lower limb deficiency are encouraged to participate in para-sports.However,to compete in Paralympic sports,the candidate must have an impairment that results in lower extremity loss of function and meets or exceeds the sport's minimum impairment criteria(MIC).This review will focus on the MIC for competitive wheelchair tennis.Limb deficiency is known as one of the MIC used to regulate participation in competitive para-sports since it impacts gait,kinematics,and biomechanics of both the upper and lower body.Notwithstanding,it is questionable whether the MIC concerning limb deficiency is set at the correct level for determining eligibility for participating in Paralympic sports.This study aims to provide an overview of the evidence examining the impact of different partial foot amputation(PFA)levels on gait as a proxy for sporting performance.This scoping review will be based on a 6-step methodological framework and Preferred Reporting Items for Systematic Reviews and Meta-Analysis,extension for scoping reviews(PRISMA-ScR).Studies will be selected from PubMed,Embase,CINAHL,and SPORTDiscus.Two authors will screen the titles/abstracts independently.Selected studies will be scrutinised,and the same authors will extract data.Findings will be relevant to informing the evidence-based development of MIC for lower limb impairment after PFA and may be extrapolated to specific Paralympic sports,including wheelchair tennis.Results will be disseminated through scientific publications and conferences to audiences interested in Paralympic sports.