Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations

El-Dessouky, Sara H; Aboulghar, M.; Gaafar, Hassan Mostafa; Abdella, Rana; Sharaf, M.; Ateya, Mohamed I.; Elarab, Ahmed Ezz; Zidan, Walaa H.; Helal, Rania M.; Aboelsaud, Samah M.; Eid, Maha M.; Abdel-Salam, Ghada M H

doi:10.1002/pd.5649

Cited by 8 publications

(19 citation statements)

References 44 publications

(57 reference statements)

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“…3 In Egypt, although the prevalence of consanguineous marriages-associated HPE decreased from 41% in 2012 to 32% in 2019 the prevalence of maternal DM-associated HPE increased from 25% in 2012 to 36% in 2019. 1,2 This suggests that the higher incidence of HPE recorded in 2019 when compared 2012 could be due to the high prevalence of maternal diabetes. On the other hand, the difference could be due to higher detection rates, since the mean age at detection is lower in 2012 (20 weeks ± 5 days) than in 2019 (3.3 ± 1.8 years).…”

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confidence: 99%

“…Interestingly, the incidence of HPE in Egypt increased from 2.3:10000 in 2012 to 4.4:10000 live-born infants in 2019. 1,2 The reason for the increase is still unknown. The literature shows that the major risk factors for HPE include maternal Diabetes Mellitus (DM), consanguineous marriages, use of exogenous sex hormones, flu, and vaginal bleeding.…”

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confidence: 99%

“…On the other hand, the difference could be due to higher detection rates, since the mean age at detection is lower in 2012 (20 weeks ± 5 days) than in 2019 (3.3 ± 1.8 years). 1,2 Sadly, despite the fact that the HPE could be detected as early as the 11 weeks of gestation or 10 weeks of menstrual age using ultrasonography and magnetic resonance imaging, 4,6,7 only 52% of affected mothers in Egypt opt for termination of pregnancy. The literature shows that the prevalence of Trisomy 13 and Trisomy 18 in HPE cases ranges from 62% to 86% and 11% to 17%, respectively.…”

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confidence: 99%

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Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?

Okoye

Ngokere

2020

Prenatal Diagnosis

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We read with keen interest the article recently published by El-Dessouky et al on "prenatal Ultrasound Findings of Holoprosencephaly Spectrum: Unusual associations". 1 The authors rightly selected their cases and sufficiently investigated the genetic correlates of holoprosencephaly (HPE). However, we are intrigued by the striking variations between the reports of El-Dessouky et al and El-Bassyouni et al, 1,2 considering the fact that the both investigations were carried out in Cairo, Egypt. The former did not make any reference to or discuss their findings in the light of the earlier report of the latter. This creates a gap in the literature and limits the ability of policy makers to rightly channel interventions in health care. First, El-Dessouky et al investigated 25 cases of HPE (between 2017 and 2019) at Cairo Fetal Medicine Unit and reported a male:female (M:F) sex ratio of 1:1.8. 1 Contrastingly, El-Bassyouni et al investigated 24 cases of HPE at National Research Centre (between 2008 and 2012) and reported an M:F sex ratio of 2:1. 2 Globally, HPE is preponderant in females and M: F sex ratio ranges from 1:1.4 to 1:2.5. 3-5 The reason for the initial preponderance in males and the shift from male preponderance to female preponderance in Egypt is yet unexplained. This warrants more investigations.

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?

Okoye

Ngokere

2020

Prenatal Diagnosis

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“…To conclude, the considerable variabilities between El‐Dessouky et al 1 and El‐Bassyouni et al 2 studies are simply because of the variability in the type of the approaches 1,2 . We do not think that variable data from different approaches could be used to guide the policy makers to rightly channel interventions in health care.…”

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confidence: 89%

“…The difference in the sex ratio could be explained from that sense. El-Bassyouni et al 2 patients were highly selected cohort of patients and not a random one as in El-Dessouky et al 1 That is why, it is quite expected that the prevalence of alobar HPE was higher and the prevalence of semi-lobar was lower in El-Dessouky et al 1 compared with El-Bassyouni et al 2 since the former was based on prenatal fetuses while the later was based on older surviving patients. Further, There is an agreement in the literature that trisomy 13 is the most prevalent among HPE patients.…”

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confidence: 98%

Response to letter from Okoye JO and Ngokere AA “Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?”

et al. 2020

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We thank Drs Okoye and Ngokere for their interest and appreciate their efforts in comparing our two articles of holoprosencephaly (HPE) in Egypt 1,2 They raised several conclusions based on observations of different approaches studies since El-Dessouky et al 1 was a prenatal based study while El-Bassyouni et al 2 was on a cohort of postnatal surviving patients. First, we would like to highlight that, El-Dessouky et al provided a careful detailed prenatal ultrasonographic revision of a total of 25 fetuses with HPE and their available postnatal findings. 1 These cases were collected from a cohort of 56, 700 pregnant females referred for detailed fetal anomaly scan in the Cairo Fetal Medicine Unit (Cairo University). Therefore the estimated prevalence was 4.4:10,000. Cairo University hospital is considered the main referral maternity hospital in Egypt. Accordingly, El-Dessouky et al 1 study could be considered as a high risk population based study. In comparison, El-Bassyouni et al 2 discussed in details the clinical and neuroimaging findings of 24 patients with HPE at different ages (mean age 3.3 ± 1.8 years) referred to the National Research Centre for genetic counseling in 4 years period. El-Bassyouni et al 2 did not show any prevalence of HPE in their report. National Research Centre is consid

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Kidins220 sets the threshold for survival of neural stem cells and progenitors to sustain adult neurogenesis

Puerto

Martí-Prado

Barrios-Muñoz

et al. 2023

Preprint

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In the adult mammalian brain, neural stem cells (NSCs) located in highly restricted niches sustain the generation of new neurons that integrate into existing circuits. A reduction in adult neurogenesis is linked to ageing and neurodegeneration, whereas dysregulation of proliferation and survival of NSCs have been hypothesized to be at the origin of glioma. Thus, unravelling the molecular underpinnings of the regulated activation that NSCs must undergo to proliferate and generate new progeny is of considerable relevance. current research has identified cues promoting or restraining NSCs activation. Yet, whether NSCs depend on external signals to survive or if intrinsic factors establish a threshold for sustaining their viability remains elusive, even if this knowledge could involve potential for devising novel therapeutic strategies. Kidins220 (Kinase D-interacting substrate of 220 kDa) is an essential effector of crucial pathways for neuronal survival and differentiation. It is dramatically altered in cancer and in neurological and neurodegenerative disorders, emerging as a regulatory molecule with important functions in human disease. Herein, we discover severe neurogenic deficits and hippocampal-based spatial memory defects in Kidins220 deficient mice. Mechanistically, we demonstrate that Kidins220-dependent activation of AKT in response to EGF restraints GSK3 activity preventing NSCs apoptosis. Hence, Kidins220 levels set a molecular threshold for survival in response to mitogens, allowing adult NSCs to proliferate. Our study identifies Kidins220 as a key player for sensing the availability of growth factors to sustain adult neurogenesis, uncovering a molecular link that may help paving the way towards neurorepair.

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Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations

Cited by 8 publications

References 44 publications

Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?

Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?

Response to letter from Okoye JO and Ngokere AA “Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?”

Kidins220 sets the threshold for survival of neural stem cells and progenitors to sustain adult neurogenesis

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