A RARE CASE OF OSLER-WEBER-RENDU SYNDROME IN PREGNANCY

Hereditary Haemorrhagic Telangiectasia is a genetic vascular disorder, having ve variants depending on underlying gene mutations and characterised by aneurysms and arterio-venous malformations. Larger AVMs present most commonly in the brain, lung, and liver. The diagnosis is mainly clinical based on the Curacao Criteria. Serious Neurological complications can occur in up to 10% of cases. Pregnancy associated hormonal changes affect the cardiovascular system manifesting in the second and third trimesters. Majority of the pregnancies are uneventful, but severe complications and even death can occur. HHT in pregnancy is considered high risk and needs management by a multidisciplinary team. Women with HHT planning pregnancy should be counselled regarding the rare but serious risks. Strict antenatal surveillance and prior awareness of the diagnosis of HHT is usually associated with good pregnancy outcomes.

Download Full-text

Cerebral vascular adaptation to pregnancy and its role in the neurological complications of eclampsia

Journal of Applied Physiology ◽

10.1152/japplphysiol.01159.2010 ◽

2011 ◽

Vol 110 (2) ◽

pp. 329-339 ◽

Cited By ~ 56

Author(s):

Marilyn J. Cipolla ◽

Julie G. Sweet ◽

Siu-Lung Chan

Keyword(s):

Blood Flow ◽

Capillary Density ◽

Neurological Complications ◽

Peroxisome Proliferator ◽

Hemodynamic Changes ◽

Acute Hypertension ◽

Peroxisome Proliferator Activated Receptor ◽

Brain Barrier Permeability ◽

The Brain ◽

In Pregnancy

The cerebral circulation has a central role in mediating the neurological complications of eclampsia, yet our understanding of how pregnancy and preeclampsia affect this circulation is severely limited. Here, we show that pregnancy causes outward remodeling of penetrating arterioles and increased capillary density in the brain due to activation of peroxisome proliferator-activated receptor-γ (PPARγ), a transcription factor involved in cerebrovascular remodeling and highly activated in pregnancy. Pregnancy-induced PPARγ activation also significantly affected cerebral hemodynamics, decreasing vascular resistance and increasing cerebral blood flow by ∼40% in response to acute hypertension that caused breakthrough of autoregulation. These structural and hemodynamic changes in the brain during pregnancy were associated with substantially increased blood-brain barrier permeability, an effect that could promote passage of damaging proteins into the brain and cause the neurological complications of eclampsia, including seizure.

Download Full-text

Abstract #942: A Rare Case of Dopamine Secreting Paraganglioma (PGL) in a Patient with SDHB and a Variant of Unknown Significance in Tmem127 Gene Mutations

Endocrine Practice ◽

10.1016/s1530-891x(20)45232-2 ◽

2016 ◽

Vol 22 ◽

pp. 217

Author(s):

Rujuta Katkar ◽

Adel Hanna ◽

Akshata Desai ◽

Antoine Makdissi

Keyword(s):

Rare Case ◽

Gene Mutations ◽

Variant Of Unknown Significance ◽

Unknown Significance

Download Full-text

1429-P: A Review of Prepregnancy Care and Pregnancy Outcomes in Pregestational Diabetes—Are Prior Improvements in Pregnancy Preparation and Outcomes Maintained for Women with Pregestational Diabetes?

Diabetes ◽

10.2337/db19-1429-p ◽

2019 ◽

Vol 68 (Supplement 1) ◽

pp. 1429-P

Author(s):

CHRISTINE NEWMAN ◽

LOUISE CARMODY ◽

AOIFE M. EGAN ◽

LISA A. OWENS ◽

FIDELMA DUNNE

Keyword(s):

Pregnancy Outcomes ◽

Pregestational Diabetes ◽

Prepregnancy Care ◽

In Pregnancy

Download Full-text

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

Neuropediatrics ◽

10.1055/s-0039-1693148 ◽

2019 ◽

Vol 50 (05) ◽

pp. 313-317 ◽

Cited By ~ 3

Author(s):

Vykuntaraju K. Gowda ◽

Varunvenkat M. Srinivasan ◽

Kapil Jehta ◽

Maya D. Bhat

Keyword(s):

Gene Mutations ◽

Febrile Illness ◽

Flaccid Paralysis ◽

Thiamine Pyrophosphate ◽

Homozygous Mutation ◽

Missense Variation ◽

Magnetic Resonance Imaging Mri ◽

The Brain ◽

Generation Sequencing ◽

Striatal Necrosis

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

Download Full-text

Marijuana use and pregnancy outcomes among women with hypertension in pregnancy

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.1080/14767058.2020.1785422 ◽

2020 ◽

pp. 1-8

Author(s):

Karen S. Greiner ◽

Jamie O. Lo ◽

Rosa J. Speranza ◽

Mónica Rincón ◽

Richard M. Burwick

Keyword(s):

Pregnancy Outcomes ◽

Marijuana Use ◽

Hypertension In Pregnancy ◽

In Pregnancy

Download Full-text

Comparison of pregnancy outcomes after second trimester amniocentesis between procedures performed by experts and non-experts

Journal of Perinatal Medicine ◽

10.1515/jpm-2020-0430 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Tanapak Wisetmongkolchai ◽

Fuanglada Tongprasert ◽

Kasemsri Srisupundit ◽

Suchaya Luewan ◽

Kuntharee Traisrisilp ◽

...

Keyword(s):

Pregnancy Outcomes ◽

Loss Rate ◽

Fetal Loss ◽

Adverse Pregnancy Outcomes ◽

Expert Group ◽

Second Trimester ◽

Single Institution ◽

Adverse Pregnancy ◽

In Pregnancy ◽

Singleton Pregnancies

AbstractObjectivesTo compare the rate of fetal loss in pregnancy after second trimester amniocentesis between procedures performed by experts and non-experts and to assess other pregnancy complications as secondary outcomes.MethodsA retrospective cohort study was performed on singleton pregnancies that underwent mid-trimester amniocenteses in a single institution. The fetal loss rates of procedures performed by experts and non-experts were collected and analyzed. Other adverse pregnancy outcomes were also examined.ResultsIn total, 14,450 amniocenteses were performed during the study period. These included 11,357 (78.6%) procedures in the group expert operators and 3,093 (21.4%) procedures in the group non-expert operators. In the non-expert group, the fetal loss rate was slightly increased but not significantly (p=0.24).In addition, the higher number of spontaneous abortions was associated with blood-stained amniotic fluid sample (p<0.001; RR=9.28). Multiple needle insertions also increased in the non-expert group significantly. However, no difference in pregnancy outcomes was found between in single and multiple needle insertions.ConclusionsThe amniocentesis procedures performed by the non-experts was not increase the fetal loss rate. However, the other adverse pregnancy outcomes, including preterm birth, low birth weight and fetal growth restriction were significantly increased in the non-expert group.

Download Full-text

SARS-CoV-2: is there neuroinvasion?

Fluids and Barriers of the CNS ◽

10.1186/s12987-021-00267-y ◽

2021 ◽

Vol 18 (1) ◽

Author(s):

Conor McQuaid ◽

Molly Brady ◽

Rashid Deane

Keyword(s):

Respiratory Distress ◽

Vascular Dysfunction ◽

Multiorgan Failure ◽

Neurological Complications ◽

Wide Distribution ◽

The Body ◽

Health Conditions ◽

Main Body ◽

Beneficial Effects ◽

The Brain

Abstract Background SARS-CoV-2, a coronavirus (CoV), is known to cause acute respiratory distress syndrome, and a number of non-respiratory complications, particularly in older male patients with prior health conditions, such as obesity, diabetes and hypertension. These prior health conditions are associated with vascular dysfunction, and the CoV disease 2019 (COVID-19) complications include multiorgan failure and neurological problems. While the main route of entry into the body is inhalation, this virus has been found in many tissues, including the choroid plexus and meningeal vessels, and in neurons and CSF. Main body We reviewed SARS-CoV-2/COVID-19, ACE2 distribution and beneficial effects, the CNS vascular barriers, possible mechanisms by which the virus enters the brain, outlined prior health conditions (obesity, hypertension and diabetes), neurological COVID-19 manifestation and the aging cerebrovascualture. The overall aim is to provide the general reader with a breadth of information on this type of virus and the wide distribution of its main receptor so as to better understand the significance of neurological complications, uniqueness of the brain, and the pre-existing medical conditions that affect brain. The main issue is that there is no sound evidence for large flux of SARS-CoV-2 into brain, at present, compared to its invasion of the inhalation pathways. Conclusions While SARS-CoV-2 is detected in brains from severely infected patients, it is unclear on how it gets there. There is no sound evidence of SARS-CoV-2 flux into brain to significantly contribute to the overall outcomes once the respiratory system is invaded by the virus. The consensus, based on the normal route of infection and presence of SARS-CoV-2 in severely infected patients, is that the olfactory mucosa is a possible route into brain. Studies are needed to demonstrate flux of SARS-CoV-2 into brain, and its replication in the parenchyma to demonstrate neuroinvasion. It is possible that the neurological manifestations of COVID-19 are a consequence of mainly cardio-respiratory distress and multiorgan failure. Understanding potential SARS-CoV-2 neuroinvasion pathways could help to better define the non-respiratory neurological manifestation of COVID-19.

Download Full-text