scholarly journals Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history

2013 ◽  
Vol 161 (9) ◽  
pp. 2396-2398 ◽  
Author(s):  
Elizabeth Bhoj ◽  
Holly Dubbs ◽  
Donna McDonald-McGinn ◽  
Elaine Zackai
2019 ◽  
Vol 122 (03) ◽  
pp. 284-292 ◽  
Author(s):  
Marcos Pereira-Santos ◽  
Gisele Queiroz Carvalho ◽  
Djanilson Barbosa dos Santos ◽  
Ana Marlucia Oliveira

AbstractThe relationship among social determinants, vitamin D serum concentration and the health and nutrition conditions is an important issue in the healthcare of pregnant women and newborns. Thus, the present study analyses how vitamin D, prenatal monitoring and social determinants are associated with birth weight. The cohort comprised 329 pregnant women, up to 34 weeks gestational age at the time of admission, who were receiving care through the prenatal services of Family Health Units. Structural equation modelling was used in the statistical analysis. The mean birth weight was 3340 (sd 0·545) g. Each nmol increase in maternal vitamin D serum concentration was associated with an increase in birth weight of 3·06 g. Prenatal healthcare with fewer appointments (β −41·49 g, 95 % CI −79·27, −3·71) and late onset of care in the second trimester or third trimester (β −39·24 g, 95 % CI −73·31, −5·16) favoured decreased birth weight. In addition, low socio-economic class and the practice of Afro-Brazilian religions showed a direct association with high vitamin D serum concentrations and an indirect association with high birth weight, respectively. High gestational BMI (β 23·84, 95 % CI 4·37, 43·31), maternal education level (β 24·52 g, 95 % CI 1·82, 47·23) and length of gestation (β 79·71, 95 % CI 52·81; 106·6) resulted in high birth weight. In conclusion, maternal vitamin D serum concentration, social determinants and prenatal care, evaluated in the context of primary healthcare, directly determined birth weight.


2001 ◽  
Vol 98 (5, Part 2) ◽  
pp. 919-921
Author(s):  
Masaya Hirose ◽  
Minoru Akiyama ◽  
Kenji Takakura ◽  
Yoichi Noda

Author(s):  
Shaimaa Reda Abdelmaksoud ◽  
Mostafa Abdel-Azim Mostafa ◽  
Rana Atef khashaba ◽  
Effat Assar

Objective The aim of the study is to investigate the relation of neonatal and maternal vitamin D and late-onset sepsis (LOS) Study Design One-hundred twenty term neonates along with their mothers were enrolled in this case–control study. Sixty neonates who were admitted in the neonatal intensive care unit by LOS and had not been previously admitted for last 48 hours and did not receive antibiotics or vitamin D were enrolled as cases (sepsis) group. On the other hand, 60 healthy term neonates were referred as control group. Maternal and neonatal serum 25-OH vitamin D levels were assessed in both the cohorts. Results Maternal and neonatal 25-OH vitamin D levels in cases (17.2 and 16.1 ng/mL, respectively) were significantly lower than in controls (22.7 and 21 ng/mL, respectively) p = 0.001. In the study group, the neonatal 25-OH vitamin D was negatively correlated with C-reactive protein and length of hospital stay (r = −0.616 and −0.596, respectively) p <0.001 for both. With a cut-off value of 12.9 ng/mL, the specificity and positive predictive value of neonatal vitamin D were 83.3 and 74.4%, respectively. The odds ratio was 1.088 (95% CI = 1.034–1.144)) for LOS in vitamin D-deficient neonates. Conclusion Neonates with higher vitamin D level are at lower risk of LOS than those with vitamin D deficiency. Maternal vitamin D correlates with neonatal vitamin D. These data suggest that maternal vitamin supplementation during pregnancy may lower the risk of LOS. Key Points


1989 ◽  
Vol 26 (5) ◽  
pp. 514-514
Author(s):  
B Pietschnig ◽  
F Haschke ◽  
V Veitl ◽  
G Harzer ◽  
M J Shearer ◽  
...  

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000011528
Author(s):  
Andreas Traschütz ◽  
Andrea Cortese ◽  
Selina Reich ◽  
Natalia Dominik ◽  
Jennifer Faber ◽  
...  

Objective:To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).Methods:Multimodal RFC1 repeat screening (PCR, southern blot, whole-exome/genome (WES/WGS)-based approaches) combined with cross-sectional and longitudinal deep-phenotyping in (i) cross-European cohort A (70 families) with ≥2 features of CANVAS and/or ataxia-with-chronic-cough (ACC); and (ii) Turkish cohort B (105 families) with unselected late-onset ataxia.Results:Prevalence of RFC1-disease was 67% in cohort A, 14% in unselected cohort B, 68% in clinical CANVAS, and 100% in ACC. RFC1-disease was also identified in Western and Eastern Asians, and even by WES. Visual compensation, sensory symptoms, and cough were strong positive discriminative predictors (>90%) against RFC1-negative patients. The phenotype across 70 RFC1-positive patients was mostly multisystemic (69%), including dysautonomia (62%) and bradykinesia (28%) (=overlap with cerebellar-type multiple system atrophy [MSA-C]), postural instability (49%), slow vertical saccades (17%), and chorea and/or dystonia (11%). Ataxia progression was ∼1.3 SARA points/year (32 cross-sectional, 17 longitudinal assessments, follow-up ≤9 years [mean 3.1]), but also included early falls, variable non-linear phases of MSA-C-like progression (SARA 2.5-5.5/year), and premature death. Treatment trials require 330 (1-year-trial) and 132 (2-year-trial) patients in total to detect 50% reduced progression.Conclusions:RFC1-disease is frequent and occurs across continents, with CANVAS and ACC as highly diagnostic phenotypes, yet as variable, overlapping clusters along a continuous multisystemic disease spectrum, including MSA-C-overlap. Our natural history data help to inform future RFC1-treatment trials.Classification of Evidence:This study provides Class II evidence that RFC1-repeat expansions are associated with CANVAS and ACC.


1983 ◽  
Vol 17 (4) ◽  
pp. 281-283 ◽  
Author(s):  
Robert J. Holt ◽  
César O. Freytes

Warfarin, a coumarin anticoagulant, acts by interfering with the hepatic synthesis of the vitamin-K-dependent clotting factors. It is used clinically in the treatment or prophylaxis of venous thrombosis and embolisms. Resistance to the effects of the coumarin and indanedione anticoagulants has been reported in rats and man, but its incidence has been defined as extremely rare. Resistance has been described as relative, acquired, or hereditary. The first well-documented case was also the first report to identify a genetic basis for this resistance. Since that time, there has been only one other study that strengthened the evidence for a hereditary transmission, and only a few other reports have suggested hereditary influence as a reason for coumarin resistance. In this report, a patient who presented with a familial-type warfarin resistance is described. A discussion of previous reports and possible mechanisms for nonfamilial warfarin resistance is also included.


Nutrients ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 780
Author(s):  
Shunsuke Araki ◽  
Akira Shirahata

Vitamin K is essential for the synthesis of few coagulation factors. Infants can easily develop vitamin K deficiency owing to poor placental transfer, low vitamin K content in breast milk, and poor intestinal absorption due to immature gut flora and malabsorption. Vitamin K deficiency bleeding (VKDB) in infancy is classified according to the time of presentation: early (within 24 h), classic (within 1 week after birth), and late (between 2 week and 6 months of age). VKDB in infancy, particularly late-onset VKDB, can be life-threatening. Therefore, all infants, including newborn infants, should receive vitamin K prophylaxis. Exclusive breastfeeding and cholestasis are closely associated with this deficiency and result in late-onset VKDB. Intramuscular prophylactic injections reduce the incidence of early-onset, classic, and late-onset VKDB. However, the prophylaxis strategy has recently been inclined toward oral administration because it is easier, safer, and cheaper to administer than intramuscular injection. Several epidemiological studies have shown that vitamin K oral administration is effective in the prevention of VKDB in infancy; however, the success of oral prophylaxis depends on the protocol regimen and parent compliance. Further national surveillance and studies are warranted to reveal the optimal prophylaxis regimen in term and preterm infants.


2012 ◽  
Vol 83 (2) ◽  
pp. 152-158 ◽  
Author(s):  
Haruki Koike ◽  
Fumiaki Tanaka ◽  
Rina Hashimoto ◽  
Minoru Tomita ◽  
Yuichi Kawagashira ◽  
...  

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