Joachim Van Keirsbilck - Academia.edu (original) (raw)

Papers by Joachim Van Keirsbilck

Research paper thumbnail of Bilateral Mammary Tuberculosis Associated with a Borderline Ovarian Tumor

Breast Care, 2008

Brusttuberkulose • Borderline-Ovarialkarzinom • Mammographie • Erkrankung der Brust Zusammenfassu... more Brusttuberkulose • Borderline-Ovarialkarzinom • Mammographie • Erkrankung der Brust Zusammenfassung Hintergrund: Brusttuberkulose tritt in der westlichen Welt nur selten auf. Die Erkrankung besitzt keine klar definierten Eigenschaften in der klinischen oder bildgebenden Untersuchung und muss von Brustkrebs sowie Abszessen unterschieden werden. Fallbericht: Wir berichten von einer Patientin mit Brusttuberkulose kombiniert mit einem Borderline-Ovarialkarzinom. Die bilaterale Brusttuberkulose war das erste und einzige Symptom einer tuberkulösen Grunderkrankung mit Ziehl-Nielsenpositiven paraaortalen Lymphknoten. Die weitere Untersuchung ergab eine asymptomatische Neoplasie im Beckenbereich, welche sich später als ein Borderline-Ovarialkarzinom darstellte. Die Patientin wurde 6 Monate lang mit Tuberkulostatika behandelt, woraufhin sich die Brustknoten komplett zurückbildeten. Zur Behandlung des Ovarialkarzinoms wurden außerdem eine Hysterektomie mit beidseitiger Salpingo-Oophorektomie sowie Lymphknotenentfernung durchgeführt. Schlussfolgerungen: Dieser Fallbericht zeigt, dass Brusttuberkulose Bestandteil der Differentialdiagnose bei atypischen Brusttumoren sein sollte.

Research paper thumbnail of A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

Prenatal Diagnosis, Feb 17, 2023

BackgroundThe Netherlands and Belgium have been among the first countries to offer non‐invasive p... more BackgroundThe Netherlands and Belgium have been among the first countries to offer non‐invasive prenatal testing (NIPT) as a first‐tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision‐making and perspectives of pregnant women who opted for NIPT in both countries.MethodsA questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination.ResultsDifferences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001).ConclusionDifferences in women's decision‐making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country‐specific societal and cultural contexts.

Research paper thumbnail of Gestational age-specific reference ranges for amniotic fluid assessment in monochorionic diamniotic twin pregnancies

Ultrasound in Obstetrics & Gynecology, May 7, 2013

See editorial comment on page 61 Objective: Pregnancy is a period of considerable change in blood... more See editorial comment on page 61 Objective: Pregnancy is a period of considerable change in blood pressure, with an early pregnancy decrease followed by a late pregnancy rise. High blood pressure in pregnancy is associated with adverse perinatal outcomes for the mother and offspring. We aimed to define normal ranges of blood pressure across gestation. Methods: We used repeated antenatal blood pressure measurements [median (interquartile range) 10 (9-11) per woman] for 10 327 women. Multilevel models were used to derive longitudinal reference ranges for SBP and DBP from 12 to 40 weeks gestation for the whole cohort, for women with normal pregnancies (without essential hypertension or preeclampsia who delivered an appropriate-size-for-gestational age infant at term) and for subgroups of normal pregnancies defined by different levels of maternal prepregnancy BMI, smoking and parity. Results: In normal pregnancies, the mean (95% reference range) SBP and DBP for nulliparous women at 12 weeks gestation were 112.1 (88.6-135.5) and 65.4 (48.9-81.9) mmHg, and at 37 weeks were 116.0 (92.3-139.7) and 70.0 (52.2-87.9) mmHg, respectively. For every additional 10 mmHg of blood pressure at 12 weeks, normal ranges were 2-3 mmHg higher across gestation. Reference ranges for multiparous women were 1-2 mmHg lower throughout pregnancy. Stratified reference ranges were higher for women in higher prepregnancy BMI categories, and lower for smokers than for nonsmokers throughout pregnancy. Conclusion: Normal ranges for blood pressure vary with gestation age and by maternal subgroups. Whole population and stratified normograms could be used as a reference to identify abnormal trajectories.

Research paper thumbnail of P02.75: First-trimester diagnosis of sirenomelia

Ultrasound in Obstetrics & Gynecology, Aug 31, 2006

Poster abstracts bones were constantly lying in a side-by-side position and there were only two s... more Poster abstracts bones were constantly lying in a side-by-side position and there were only two separate tibias but no fibula. The lower extremities were completely fused, moving together slightly and two feet were fused with the heels. Blood sampling was obtained by cordocentesis for fetal karyotype analyses. The pregnancy was terminated. Karyotype result could not be obtained due to failure in laboratory and plain radiographs of the aborted fetus revealed two femora and two tibias in lower limb of fetus with sirenomelia. Autopsy also revealed a fetus with sirenomelia associated with limb-body wall defect with evisceration of intestine and liver and associated diaphragmatic hernia. Bilateral kidneys were present and fetal bladder was noted. Fetal gender was not distinct. Lower limbs were fused and two femora, two tibias and two feet with disarranged digits were noted. Anomaly was classified as 'symelia dipus' according to Foster, and as 'Type III' according to Stocker classification.

Research paper thumbnail of First trimester diagnosis of sirenomelia

Prenatal Diagnosis, 2006

Sirenomelia is a rare congenital anomaly characterized by a single lower extremity which is assoc... more Sirenomelia is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. Sirenomelia can be confidently diagnosed in the first trimester while the diagnosis in the second and third trimesters is rendered difficult due to the lack of amniotic fluid in the later gestation. Transvaginal ultrasound and color Doppler have a key role in making the diagnosis and 3D ultrasound helps in better demonstrating the abnormality.

Research paper thumbnail of Complications and management of monochorionic twins

South African Medical Journal, 2010

Research paper thumbnail of Traitement de la rupture iatrogène des membranes fœtales par « patch » amniotique

Objectif.-En raison du nombre croissant de procé dures foetales invasives, la pré valence des rup... more Objectif.-En raison du nombre croissant de procé dures foetales invasives, la pré valence des ruptures des membranes amniotiques postprocé durales augmente. Dans cet article, nous dé crivons l'utilisation de plaquettes et de plasma frais congelé pour sceller une dé chirure des membranes. Patients et me´thodes.-Le mé canisme d'action du « patch » amniotique ainsi que l'expé rience publié e avec cette procé dure sont rapporté s dans cet article. Re´sultats.-Dans le cas d'une rupture pré maturé e de la poche amniotique iatrogè ne, le « patch » amniotique scelle les membranes foetales dans plus des deux tiers des cas. Le risque de mort foetale in utero est de 17 %. Celle-ci peut aussi survenir à distance de la procé dure et reste souvent inexpliqué e. Discussion et conclusion.-Le « patch » amniotique peut être utilisé comme traitement d'un é coulement de liquide amniotique pré coce et persistant aprè s une procé dure foetale invasive. ß 2011 Elsevier Masson SAS. Tous droits ré servé s.

Research paper thumbnail of Preventie, diagnostiek en prenataal beleid bij resus-allo-immunisatie

Research paper thumbnail of A nationwide population-based cohort study of peripartum hysterectomy and arterial embolisation in Belgium: results from the Belgian Obstetric Surveillance System

Research paper thumbnail of Non-cardiogenic lung edema in a woman treated with atosiban for preterm labor

Journal of Perinatal Medicine, 2008

ABSTRACT No Abstract available.

Research paper thumbnail of Cell-free DNA methylome analysis for early preeclampsia prediction

Research paper thumbnail of A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

Research paper thumbnail of Unusual cerebellar malformations: two cases of Friede syndrome and review of the literature

Research paper thumbnail of Knowledge of cervix cancer, human papilloma virus (HPV) and HPV vaccination at the moment of introduction of the vaccine in women in Belgium

Archives of Gynecology and Obstetrics, 2007

Aim To test the knowledge of women, attending a gynecology clinic, on HPV, cervix cancer awarenes... more Aim To test the knowledge of women, attending a gynecology clinic, on HPV, cervix cancer awareness and the knowledge and willingness to use HPV vaccine for themselves or their children. Setting Routine gynecological and obstetrical care with ambulatory service in a medium-sized general hospital in a small town in Belgium (Heilig Hart Hospital, Tienen). Methods Questionnaire to be filled out by 381 consecutive women while in the attendance room for consultation with one of the four gynecologists. Fisher T or Chi 2 were used as statistical methods. Results Knowledge about HPV as a cause of cervix cancer and the existence of a vaccine was roughly 50%. Women with lower education were more likely to know nothing about the cause of cervix cancer than women with higher education (54 versus 39%, P = 0.016). Half of the women were willing to accept the vaccine, whatever the cost price, and 40% required more information or refunding. Compared to women above 40, young age (25 years or less) was a risk factor for poor knowledge of HPV (P = 0.007), cervix cancer (P = 0.016) and the HPV vaccine (P = 0.07), regardless of a higher degree of education (79% postgraduate degree versus 43.4% in the 40+-year-old women, P = 0.006). Women with a daughter (64.7%) or a son (69.2%) were more inclined to vaccinate their daughter than women without children (46.3%, P \ 0.0001). None of the women declined the vaccination because it was meant to protect against a sexually transmitted disease (STD). Conclusion Upon introduction and marketing of the first HPV vaccine, only 50% of women attending a routine gynecology clinic were aware of the role of HPV in cervix cancer and the possibility of getting a vaccination against it. Unexpectedly, despite a high degree of education, young women seem to have a low awareness of cervix cancer, its cause and the preventive measures. Contrary to some women in the USA, Western European women are less likely to decline the HPV vaccine because it will protect them against STD. In Belgium, women who are childless or poorly educated and especially young women should be the targets of campaigns that motivate them to prevent HPV-induced cervix cancer.

Research paper thumbnail of An immature teratoma of the umbilical cord: a case report and review of the literature

Research paper thumbnail of Enhancing the value of the sFlt-1/PlGF ratio for the prediction of preeclampsia: Cost analysis from the Belgian healthcare payers’ perspective

Research paper thumbnail of A nationwide population-based cohort study of peripartum hysterectomy and arterial embolisation in Belgium: results from the Belgian Obstetric Surveillance System

BMJ Open

ObjectivesTo assess the prevalence of major obstetric haemorrhage managed with peripartum hystere... more ObjectivesTo assess the prevalence of major obstetric haemorrhage managed with peripartum hysterectomy and/or interventional radiology (IR) in Belgium. To describe women characteristics, the circumstances in which the interventions took place, the management of the obstetric haemorrhage, the outcome and additional morbidity of these women.DesignNationwide population-based prospective cohort study.SettingEmergency obstetric care. Participation of 97% of maternities covering 98.6% of deliveries in Belgium.ParticipantsAll women who underwent peripartum hysterectomy and/or IR procedures in Belgium between January 2012 and December 2013.ResultsWe obtained data on 166 women who underwent peripartum hysterectomy (n=84) and/or IR procedures (n=102), corresponding to 1 in 3030 women undergoing a peripartum hysterectomy and another 1 in 3030 women being managed by IR, thereby preserving the uterus. Seventeen women underwent hysterectomy following IR and three women needed further IR despite h...

Research paper thumbnail of Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes

Journal of Medical Genetics, 2016

BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with... more BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. METHODS: Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormalities. As a parallel study, 346 probands with a phenotype consistent with JS or related ciliopathies underwent nextgeneration sequencing-based targeted sequencing of 120 previously described and candidate ciliopathy genes. RESULTS: We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. No obvious correlation is evident between the type or location of identified mutations and the ciliopathy phenotype. CONCLUSION: Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.

Research paper thumbnail of Gestational age-specific reference ranges for amniotic fluid assessment in monochorionic diamniotic twin pregnancies

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2013

To establish gestational age-specific reference ranges for amniotic fluid measurements in monocho... more To establish gestational age-specific reference ranges for amniotic fluid measurements in monochorionic diamniotic twin pregnancies, to compare them with previously reported singleton and twin reference ranges and to examine the rationale for using a gestational age-dependent cut-off to define polyhydramnios in twin-twin transfusion syndrome, as is the practice in most European centers. We retrospectively evaluated amniotic fluid volume in 32 monochorionic diamniotic twin pregnancies that were followed longitudinally at 2-week intervals from the first trimester until birth. Amniotic fluid volume was assessed by measuring the deepest vertical pocket in both amniotic sacs. We used multilevel modeling to estimate the gestational age-specific reference ranges for deepest vertical pocket measurements. Based on 429 observations in 64 fetuses, we constructed gestational age-specific reference ranges from 11 weeks until term. The deepest pocket increased from the first trimester to reach a ...

Research paper thumbnail of P05.17: Unusual cerebellar malformations: two cases of Friede syndrome and review of the literature

Ultrasound in Obstetrics & Gynecology, 2014

Research paper thumbnail of Bilateral Mammary Tuberculosis Associated with a Borderline Ovarian Tumor

Breast Care, 2008

Brusttuberkulose • Borderline-Ovarialkarzinom • Mammographie • Erkrankung der Brust Zusammenfassu... more Brusttuberkulose • Borderline-Ovarialkarzinom • Mammographie • Erkrankung der Brust Zusammenfassung Hintergrund: Brusttuberkulose tritt in der westlichen Welt nur selten auf. Die Erkrankung besitzt keine klar definierten Eigenschaften in der klinischen oder bildgebenden Untersuchung und muss von Brustkrebs sowie Abszessen unterschieden werden. Fallbericht: Wir berichten von einer Patientin mit Brusttuberkulose kombiniert mit einem Borderline-Ovarialkarzinom. Die bilaterale Brusttuberkulose war das erste und einzige Symptom einer tuberkulösen Grunderkrankung mit Ziehl-Nielsenpositiven paraaortalen Lymphknoten. Die weitere Untersuchung ergab eine asymptomatische Neoplasie im Beckenbereich, welche sich später als ein Borderline-Ovarialkarzinom darstellte. Die Patientin wurde 6 Monate lang mit Tuberkulostatika behandelt, woraufhin sich die Brustknoten komplett zurückbildeten. Zur Behandlung des Ovarialkarzinoms wurden außerdem eine Hysterektomie mit beidseitiger Salpingo-Oophorektomie sowie Lymphknotenentfernung durchgeführt. Schlussfolgerungen: Dieser Fallbericht zeigt, dass Brusttuberkulose Bestandteil der Differentialdiagnose bei atypischen Brusttumoren sein sollte.

Research paper thumbnail of A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

Prenatal Diagnosis, Feb 17, 2023

BackgroundThe Netherlands and Belgium have been among the first countries to offer non‐invasive p... more BackgroundThe Netherlands and Belgium have been among the first countries to offer non‐invasive prenatal testing (NIPT) as a first‐tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision‐making and perspectives of pregnant women who opted for NIPT in both countries.MethodsA questionnaire study was performed among pregnant women in the Netherlands (NL) (n = 587) and Belgium (BE) (n = 444) opting for NIPT, including measures on informed choice, personal and societal perspectives on trisomy 21, 18 and 13 and pregnancy termination.ResultsDifferences between Dutch and Belgian women were shown in the level of informed choice (NL: 83% vs. BE: 59%, p < 0.001), intention to terminate the pregnancy in case of confirmed trisomy 21 (NL: 51% vs. BE: 62%, p = 0.003) and trisomy 13/18 (NL: 80% vs. BE: 73%, p = 0.020). More Belgian women considered trisomy 21 a severe condition (NL: 64% vs. BE: 81%, p < 0.001). Belgian women more frequently indicated that they believed parents are judged for having a child with trisomy 21 (BE: 42% vs. NL: 16%, p < 0.001) and were less positive about quality of care and support for children with trisomy 21 (BE: 23% vs. NL: 62%, p < 0.001).ConclusionDifferences in women's decision‐making regarding NIPT and the conditions screened for may be influenced by counseling aspects and country‐specific societal and cultural contexts.

Research paper thumbnail of Gestational age-specific reference ranges for amniotic fluid assessment in monochorionic diamniotic twin pregnancies

Ultrasound in Obstetrics & Gynecology, May 7, 2013

See editorial comment on page 61 Objective: Pregnancy is a period of considerable change in blood... more See editorial comment on page 61 Objective: Pregnancy is a period of considerable change in blood pressure, with an early pregnancy decrease followed by a late pregnancy rise. High blood pressure in pregnancy is associated with adverse perinatal outcomes for the mother and offspring. We aimed to define normal ranges of blood pressure across gestation. Methods: We used repeated antenatal blood pressure measurements [median (interquartile range) 10 (9-11) per woman] for 10 327 women. Multilevel models were used to derive longitudinal reference ranges for SBP and DBP from 12 to 40 weeks gestation for the whole cohort, for women with normal pregnancies (without essential hypertension or preeclampsia who delivered an appropriate-size-for-gestational age infant at term) and for subgroups of normal pregnancies defined by different levels of maternal prepregnancy BMI, smoking and parity. Results: In normal pregnancies, the mean (95% reference range) SBP and DBP for nulliparous women at 12 weeks gestation were 112.1 (88.6-135.5) and 65.4 (48.9-81.9) mmHg, and at 37 weeks were 116.0 (92.3-139.7) and 70.0 (52.2-87.9) mmHg, respectively. For every additional 10 mmHg of blood pressure at 12 weeks, normal ranges were 2-3 mmHg higher across gestation. Reference ranges for multiparous women were 1-2 mmHg lower throughout pregnancy. Stratified reference ranges were higher for women in higher prepregnancy BMI categories, and lower for smokers than for nonsmokers throughout pregnancy. Conclusion: Normal ranges for blood pressure vary with gestation age and by maternal subgroups. Whole population and stratified normograms could be used as a reference to identify abnormal trajectories.

Research paper thumbnail of P02.75: First-trimester diagnosis of sirenomelia

Ultrasound in Obstetrics & Gynecology, Aug 31, 2006

Poster abstracts bones were constantly lying in a side-by-side position and there were only two s... more Poster abstracts bones were constantly lying in a side-by-side position and there were only two separate tibias but no fibula. The lower extremities were completely fused, moving together slightly and two feet were fused with the heels. Blood sampling was obtained by cordocentesis for fetal karyotype analyses. The pregnancy was terminated. Karyotype result could not be obtained due to failure in laboratory and plain radiographs of the aborted fetus revealed two femora and two tibias in lower limb of fetus with sirenomelia. Autopsy also revealed a fetus with sirenomelia associated with limb-body wall defect with evisceration of intestine and liver and associated diaphragmatic hernia. Bilateral kidneys were present and fetal bladder was noted. Fetal gender was not distinct. Lower limbs were fused and two femora, two tibias and two feet with disarranged digits were noted. Anomaly was classified as 'symelia dipus' according to Foster, and as 'Type III' according to Stocker classification.

Research paper thumbnail of First trimester diagnosis of sirenomelia

Prenatal Diagnosis, 2006

Sirenomelia is a rare congenital anomaly characterized by a single lower extremity which is assoc... more Sirenomelia is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. Sirenomelia can be confidently diagnosed in the first trimester while the diagnosis in the second and third trimesters is rendered difficult due to the lack of amniotic fluid in the later gestation. Transvaginal ultrasound and color Doppler have a key role in making the diagnosis and 3D ultrasound helps in better demonstrating the abnormality.

Research paper thumbnail of Complications and management of monochorionic twins

South African Medical Journal, 2010

Research paper thumbnail of Traitement de la rupture iatrogène des membranes fœtales par « patch » amniotique

Objectif.-En raison du nombre croissant de procé dures foetales invasives, la pré valence des rup... more Objectif.-En raison du nombre croissant de procé dures foetales invasives, la pré valence des ruptures des membranes amniotiques postprocé durales augmente. Dans cet article, nous dé crivons l'utilisation de plaquettes et de plasma frais congelé pour sceller une dé chirure des membranes. Patients et me´thodes.-Le mé canisme d'action du « patch » amniotique ainsi que l'expé rience publié e avec cette procé dure sont rapporté s dans cet article. Re´sultats.-Dans le cas d'une rupture pré maturé e de la poche amniotique iatrogè ne, le « patch » amniotique scelle les membranes foetales dans plus des deux tiers des cas. Le risque de mort foetale in utero est de 17 %. Celle-ci peut aussi survenir à distance de la procé dure et reste souvent inexpliqué e. Discussion et conclusion.-Le « patch » amniotique peut être utilisé comme traitement d'un é coulement de liquide amniotique pré coce et persistant aprè s une procé dure foetale invasive. ß 2011 Elsevier Masson SAS. Tous droits ré servé s.

Research paper thumbnail of Preventie, diagnostiek en prenataal beleid bij resus-allo-immunisatie

Research paper thumbnail of A nationwide population-based cohort study of peripartum hysterectomy and arterial embolisation in Belgium: results from the Belgian Obstetric Surveillance System

Research paper thumbnail of Non-cardiogenic lung edema in a woman treated with atosiban for preterm labor

Journal of Perinatal Medicine, 2008

ABSTRACT No Abstract available.

Research paper thumbnail of Cell-free DNA methylome analysis for early preeclampsia prediction

Research paper thumbnail of A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

Research paper thumbnail of Unusual cerebellar malformations: two cases of Friede syndrome and review of the literature

Research paper thumbnail of Knowledge of cervix cancer, human papilloma virus (HPV) and HPV vaccination at the moment of introduction of the vaccine in women in Belgium

Archives of Gynecology and Obstetrics, 2007

Aim To test the knowledge of women, attending a gynecology clinic, on HPV, cervix cancer awarenes... more Aim To test the knowledge of women, attending a gynecology clinic, on HPV, cervix cancer awareness and the knowledge and willingness to use HPV vaccine for themselves or their children. Setting Routine gynecological and obstetrical care with ambulatory service in a medium-sized general hospital in a small town in Belgium (Heilig Hart Hospital, Tienen). Methods Questionnaire to be filled out by 381 consecutive women while in the attendance room for consultation with one of the four gynecologists. Fisher T or Chi 2 were used as statistical methods. Results Knowledge about HPV as a cause of cervix cancer and the existence of a vaccine was roughly 50%. Women with lower education were more likely to know nothing about the cause of cervix cancer than women with higher education (54 versus 39%, P = 0.016). Half of the women were willing to accept the vaccine, whatever the cost price, and 40% required more information or refunding. Compared to women above 40, young age (25 years or less) was a risk factor for poor knowledge of HPV (P = 0.007), cervix cancer (P = 0.016) and the HPV vaccine (P = 0.07), regardless of a higher degree of education (79% postgraduate degree versus 43.4% in the 40+-year-old women, P = 0.006). Women with a daughter (64.7%) or a son (69.2%) were more inclined to vaccinate their daughter than women without children (46.3%, P \ 0.0001). None of the women declined the vaccination because it was meant to protect against a sexually transmitted disease (STD). Conclusion Upon introduction and marketing of the first HPV vaccine, only 50% of women attending a routine gynecology clinic were aware of the role of HPV in cervix cancer and the possibility of getting a vaccination against it. Unexpectedly, despite a high degree of education, young women seem to have a low awareness of cervix cancer, its cause and the preventive measures. Contrary to some women in the USA, Western European women are less likely to decline the HPV vaccine because it will protect them against STD. In Belgium, women who are childless or poorly educated and especially young women should be the targets of campaigns that motivate them to prevent HPV-induced cervix cancer.

Research paper thumbnail of An immature teratoma of the umbilical cord: a case report and review of the literature

Research paper thumbnail of Enhancing the value of the sFlt-1/PlGF ratio for the prediction of preeclampsia: Cost analysis from the Belgian healthcare payers’ perspective

Research paper thumbnail of A nationwide population-based cohort study of peripartum hysterectomy and arterial embolisation in Belgium: results from the Belgian Obstetric Surveillance System

BMJ Open

ObjectivesTo assess the prevalence of major obstetric haemorrhage managed with peripartum hystere... more ObjectivesTo assess the prevalence of major obstetric haemorrhage managed with peripartum hysterectomy and/or interventional radiology (IR) in Belgium. To describe women characteristics, the circumstances in which the interventions took place, the management of the obstetric haemorrhage, the outcome and additional morbidity of these women.DesignNationwide population-based prospective cohort study.SettingEmergency obstetric care. Participation of 97% of maternities covering 98.6% of deliveries in Belgium.ParticipantsAll women who underwent peripartum hysterectomy and/or IR procedures in Belgium between January 2012 and December 2013.ResultsWe obtained data on 166 women who underwent peripartum hysterectomy (n=84) and/or IR procedures (n=102), corresponding to 1 in 3030 women undergoing a peripartum hysterectomy and another 1 in 3030 women being managed by IR, thereby preserving the uterus. Seventeen women underwent hysterectomy following IR and three women needed further IR despite h...

Research paper thumbnail of Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes

Journal of Medical Genetics, 2016

BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with... more BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. METHODS: Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormalities. As a parallel study, 346 probands with a phenotype consistent with JS or related ciliopathies underwent nextgeneration sequencing-based targeted sequencing of 120 previously described and candidate ciliopathy genes. RESULTS: We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. No obvious correlation is evident between the type or location of identified mutations and the ciliopathy phenotype. CONCLUSION: Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.

Research paper thumbnail of Gestational age-specific reference ranges for amniotic fluid assessment in monochorionic diamniotic twin pregnancies

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2013

To establish gestational age-specific reference ranges for amniotic fluid measurements in monocho... more To establish gestational age-specific reference ranges for amniotic fluid measurements in monochorionic diamniotic twin pregnancies, to compare them with previously reported singleton and twin reference ranges and to examine the rationale for using a gestational age-dependent cut-off to define polyhydramnios in twin-twin transfusion syndrome, as is the practice in most European centers. We retrospectively evaluated amniotic fluid volume in 32 monochorionic diamniotic twin pregnancies that were followed longitudinally at 2-week intervals from the first trimester until birth. Amniotic fluid volume was assessed by measuring the deepest vertical pocket in both amniotic sacs. We used multilevel modeling to estimate the gestational age-specific reference ranges for deepest vertical pocket measurements. Based on 429 observations in 64 fetuses, we constructed gestational age-specific reference ranges from 11 weeks until term. The deepest pocket increased from the first trimester to reach a ...

Research paper thumbnail of P05.17: Unusual cerebellar malformations: two cases of Friede syndrome and review of the literature

Ultrasound in Obstetrics & Gynecology, 2014