Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia

Integrative Pediatrics and Child Care ◽

10.18314/ipcc.v2i1.1695 ◽

2019 ◽

pp. 99-102

Author(s):

Pellegrino M ◽

Rosati A ◽

Battaglia D ◽

De Santis M ◽

Luciano R ◽

...

Keyword(s):

Clinical Manifestation ◽

Cerebellar Hypoplasia ◽

Brain Malformation ◽

Fetal Ventriculomegaly

Classic lissencephaly is a rare and serious brain malformation classified in type 1 and type 2. Type 1 is associated with mutations in the human LIS1 gene, which are numerous and constantly discovered. We present a case of isolated fetal ventriculomegaly with subsequent and unexpected diagnosis of neonatal lissencephaly. The clinical manifestation does not match the genotype, often associated with cerebellar hypoplasia.

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Shiga taxin type 2 but not type 1 induces interleukin-12 expression from peripheral blood mononuclear cells via activated nuclear transcription factor-kB

Gastroenterology ◽

10.1016/s0016-5085(01)81612-7 ◽

2001 ◽

Vol 120 (5) ◽

pp. A324-A324

Author(s):

M TATEWAKI ◽

H NAKAO ◽

H NOGAMI ◽

E HOSHINO ◽

H MOTEGI ◽

...

Keyword(s):

Transcription Factor ◽

Peripheral Blood Mononuclear Cells ◽

Peripheral Blood ◽

Mononuclear Cells ◽

Interleukin 12 ◽

Peripheral Blood Mononuclear ◽

Nuclear Transcription Factor ◽

Blood Mononuclear Cells

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Type 2 Diabetes Overtakes Type 1 in Hispanic Girls

Family Practice News ◽

10.1016/s0300-7073(08)70963-0 ◽

2008 ◽

Vol 38 (15) ◽

pp. 18

Author(s):

SHERRY BOSCHERT

Keyword(s):

Type 2 Diabetes

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Appropriateness and Timing of Kidney and/or Pancreas Transplants in Type 1 and Type 2 Diabetes

Advances in Renal Replacement Therapy ◽

10.1053/jarr.2001.21709 ◽

2001 ◽

Vol 8 (1) ◽

pp. 70-82 ◽

Cited By ~ 7

Author(s):

Amy L. Friedman

Keyword(s):

Type 2 Diabetes

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The efficacy and safety of LY2963016 among patients with Type 1 and Type 2 diabetes previously treated with insulin glargine

Diabetologie und Stoffwechsel ◽

10.1055/s-0035-1549538 ◽

2015 ◽

Vol 10 (S 01) ◽

Author(s):

D Dahl ◽

LB Lacaya ◽

RK Pollom ◽

LL Ilag ◽

JS Zielonka

Keyword(s):

Type 2 Diabetes ◽

Insulin Glargine ◽

Efficacy And Safety ◽

Previously Treated

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Cross-sectional survey study to understand behaviours, thoughts and perceptions of Mealtime Insulin (MTI) usage in patients with Type 1 and Type 2 Diabetes (T1D, T2D)

Diabetologie und Stoffwechsel ◽

10.1055/s-0036-1580968 ◽

2016 ◽

Vol 11 (S 01) ◽

Author(s):

K van Brunt ◽

SM Corrigan ◽

R Pedersini ◽

J Rooney

Keyword(s):

Type 2 Diabetes ◽

Survey Study ◽

Cross Sectional Survey ◽

Cross Sectional ◽

Mealtime Insulin

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Molecular analysis of FVIII gene in severe HA patients of Costa Rica

Hämostaseologie ◽

10.1055/s-0037-1619099 ◽

2010 ◽

Vol 30 (S 01) ◽

pp. S150-S152

Author(s):

G. Jiménez-Cruz ◽

M. Mendez ◽

P. Chaverri ◽

P. Alvarado ◽

W. Schröder ◽

...

Keyword(s):

Factor Viii ◽

Coagulation Factor ◽

Costa Rican ◽

Factor Viii Gene ◽

Intron 22 Inversion ◽

Intron 1 ◽

Polymerase Chain ◽

Inversion Analysis

SummaryHaemophilia A (HA) is X-chromosome linked bleeding disorders caused by deficiency of the coagulation factor VIII (FVIII). It is caused by FVIII gene intron 22 inversion (Inv22) in approximately 45% and by intron 1 inversion (Inv1) in 5% of the patients. Both inversions occur as a result of intrachromosomal recombination between homologous regions, in intron 1 or 22 and their extragenic copy located telomeric to the FVIII gene. The aim of this study was to analyze the presence of these mutations in 25 HA Costa Rican families. Patients, methods: We studied 34 HA patients and 110 unrelated obligate members and possible carriers for the presence of Inv22or Inv1. Standard analyses of the factor VIII gene were used incl. Southern blot and long-range polymerase chain reaction for inversion analysis. Results: We found altered Inv22 restriction profiles in 21 patients and 37 carriers. It was found type 1 and type 2 of the inversion of Inv22. During the screening for Inv1 among the HA patient, who were Inv22 negative, we did not found this mutation. Discussion: Our data highlight the importance of the analysis of Inv22 for their association with development of inhibitors in the HA patients and we are continuous searching of Inv1 mutation. This knowledge represents a step for genetic counseling and prevention of the inhibitor development.

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Polymorphisms of the Plasminogen Activator Inhibitor- 1 Gene in Type 1 and Type 2 Diabetes, and in Patients with Diabetic Retinopathy

Thrombosis and Haemostasis ◽

10.1055/s-0038-1642514 ◽

1994 ◽

Vol 71 (06) ◽

pp. 731-736 ◽

Cited By ~ 29

Author(s):

M W Mansfield ◽

M H Stickland ◽

A M Carter ◽

P J Grant

Keyword(s):

Diabetic Retinopathy ◽

Plasminogen Activator Inhibitor ◽

Allelic Frequency ◽

Repeat Sequence ◽

Dinucleotide Repeat ◽

Plasminogen Activator Inhibitor 1 ◽

The Difference ◽

Pai 1

SummaryTo identify whether genotype contributes to the difference in PAI-1 levels in type 1 and type 2 diabetic subjects and whether genotype relates to the development of retinopathy, a Hind III restriction fragment length polymorphism and two dinucleotide repeat polymorphisms were studied. In 519 Caucasian diabetic subjects (192 type 1, 327 type 2) and 123 Caucasian control subjects there were no differences in the frequency of the Hind III restriction alleles (type 1 vs type 2 vs control: allele 1 0.397 vs 0.420 vs 0.448; allele 2 0.603 vs 0.580 vs 0.552) nor in the allelic frequency at either dinucleotide repeat sequence. In 86 subjects with no retinopathy at 15 years or more from diagnosis of diabetes and 190 subjects with diabetic retinopathy there was no difference in the frequency of Hind III restriction alleles (retinopathy present vs retinopathy absent: allele 1 0.400 vs 0.467; allele 2 0.600 vs 0.533) nor in the allelic frequencies at either dinucleotide repeat sequence. The results indicate that there is no or minimal influence of the PAI-1 gene on either PAI-1 levels or the development of diabetic retinopathy in patients with diabetes mellitus.

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