scholarly journals A case of male incontinentia pigmenti surviving until 19 weeks of gestation in utero

2021 ◽  
Author(s):  
Atsushi Yoshida ◽  
Hiroko Morisaki ◽  
Tatsuya Murai ◽  
Yoshiki Maeda
Keyword(s):  
In Utero ◽  
The Other ◽  
Postmortem Changes ◽  
Incontinentia Pigmenti

We experienced a case of a male IP fetus who survived until 19 weeks of gestation. The diagnosis of IP in mother and fetus was made genetically. In the autopsy of the boy, the degree of hepatocellular cytolysis was much more advanced than the postmortem changes of the other organs.

scholarly journals Incontinentia Pigmenti and Bipolar Aphthosis: An Unusual Combination

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
G. Márquez Balbás ◽  
M. A. González-Enseñat ◽  
A. Vicente ◽  
L. Creus-Vila ◽  
J. Antón ◽  
...  
Keyword(s):  
Skin Eruption ◽  
Skin Lesions ◽  
In Utero ◽  
Incontinentia Pigmenti ◽  
Multisystem Disorder ◽  
Cutaneous Manifestations ◽  
Vascular Abnormalities ◽  
Unusual Combination ◽  
Lines Of Blaschko ◽  
Genital Ulcers

Incontinentia pigmenti (IP) is an uncommon X-linked dominant multisystem disorder, lethal in the majority of affected males in utero and variably expressed in females. The cutaneous manifestations are diagnostic and classically occur in four stages: vesicular, verrucous, hyperpigmented, and atrophic. The skin lesions are typically spread along the lines of Blaschko, and they are usually present at birth. It may be variably accompanied by dental, ocular, neurologic, bones and joints, and development anomalies. The genes IP has been mapped to Xq28. Mutations in the NEMO/IKKγ gene, located at Xq28, have been found to cause expression of the disease. Behçets disease is a multisystem disorder consisting of recurrent oral aphtae, genital ulcers, pustular skin eruption, and uveitis. Occasionally there are other articular, neurological, intestinal, or vascular abnormalities. This disease is rare in children. Here, we report a case of a 16-year-old female with the rare combination of incontinentia pigmenti and an aphthosis bipolar, and we discuss the probably relationship between these two diseases.

LSD Exposure in Utero

PEDIATRICS ◽  
1970 ◽  
Vol 45 (3) ◽  
pp. 466-469
Author(s):  
Richard J. Warren ◽  
David L. Rimoin ◽  
William S. Sly
Keyword(s):  
Birth Defects ◽  
Congenital Malformations ◽  
Additional Data ◽  
In Utero ◽  
The Other ◽  
In Utero Exposure ◽  
Chromosome Damage ◽  
Limb Malformations ◽  
Teratogenic Potential ◽  
The Many

In spite of the many recent reports on the damaging effects of LSD on human chromosome in vitro1,2 and in vivo3-6 and its ability to produce congenital malformations in rodents7, the teratogenic potential of this drug in humans is still uncertain. Two infants with limb malformations who had been exposed to LSD in utero have thus far been reported8,9. On the other hand, Cohen, et al.5, reported nine children and Hulten, et al.6, one child, all of whom had been exposed to LSD in utero and had no obvious birth defects although chromosome damage was apparent. Hecht and his co-workers9 have pointed out the need for additional data on infants who had in utero exposure to LSD, regardless of the presence or absence of congenital malformations, so that the teratogenic properties of the drug could be evaluated.

CLINICAL CONFERENCE

PEDIATRICS ◽  
1956 ◽  
Vol 18 (6) ◽  
pp. 1013-1018
Author(s):  
Douglas Buchanan
Keyword(s):  
Blood Vessels ◽  
Cranial Nerves ◽  
In Utero ◽  
The Other ◽  
First Child ◽  
Optic Discs ◽  
Spontaneous Onset ◽  
Different Parts

(E.W., 63 07 34) This girl is 8 months old. She has a brother 2 years old. Her mother and father are young and have had no recognized illness. Her mother was well after the birth of her first child in November of 1953. She had no change in weight and no evidence of anemia, and took no medicine. During her second pregnancy she had no feverish illness and no rash. She believes that the patient moved in utero more than her first child, but with both children she could feel the movements of the different parts of their bodies. The patient was born at term after a spontaneous onset of labor. She was delivered head first after 2 hours without anesthetic or sedation. She breathed at once. She had no cyanosis, no jaundice, and no convulsions. On the day of her birth her tongue was large and protruded, and in the 8 months of her life it has never been completely within her mouth. The muscles of her arms and legs were unusually distinct, not only because of their size, but also because of the lack of fat beneath the skin. Her skin was thin, and the blood vessels were easily seen. Her abdomen was distended. There was a separation between the two recti muscles and the liver was slightly enlarged. These physical peculiarities have not changed or disappeared. On examination now at the age of 8 months the optic discs and the retina in both eyes are normal. The other cranial nerves are all normal in their action. There is no strabismus or limitation of movement of the eyes in any direction. The deep reflexes are present, symmetrical, and brisk. The plantar responses are extensor.

scholarly journals Pericentric inversion in chromosome 1 and male infertility

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 343-348
Author(s):  
Ranwei Li ◽  
Haitao Fan ◽  
Qiushuang Zhang ◽  
Xiao Yang ◽  
Peng Zhan ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Male Infertility ◽  
Pericentric Inversion ◽  
In Utero ◽  
The Other ◽  
Chromosome 1 ◽  
Spontaneous Abortions ◽  
Familial Transmission ◽  
Normal Fertility ◽  
Breakpoint Position

AbstractPericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two cases of pericentric inversion in chromosome 1. One case was detected in utero via amniocentesis, and the other case was detected after the wife of the carrier experienced two spontaneous abortions within 5 years of marriage. Here, the effect of the breakpoint position of the inversion in chromosome 1 on male infertility is examined and compared with the published cases. The association between the breakpoint of pericentric inversion in chromosome 1 and spermatogenesis is also discussed. Overall, the results suggest that the breakpoint position deserves attention from physicians in genetic counseling as inversion carriers can produce offspring.

scholarly journals Treatment and follow-up of fetuses that developed congenital heart block due to autoantibody in two cases

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052092559
Author(s):  
Min Hou ◽  
Ying Zhao ◽  
Xiao-Wei Liu ◽  
Yi-Hua He
Keyword(s):  
Autoimmune Disease ◽  
Heart Block ◽  
Congenital Heart ◽  
Clinical Manifestations ◽  
In Utero ◽  
Congenital Heart Block ◽  
The Other ◽  
Early Screening ◽  
Prenatal Intervention

Objective Autoantibody-related congenital heart block (ACHB) is a passively acquired autoimmune disease. This study aimed to examine the pathogenesis, clinical manifestations, and treatment of ACHB. Method The clinical data of two fetuses with first-degree ACHB were retrospectively analyzed. Results Two pregnant women were strongly positive for anti-Sjögren’s syndrome-related antigen A (SSA) antibody. Among these two cases, one had a prolonged atrioventricular (AV) interval at 28+3 weeks in utero, while the other had a prolonged AV interval at 24+6 weeks in utero. After prenatal intervention, one patient recovered to normal, while one fetus continued to have ACHB after treatment with dexamethasone and intravenous immunoglobulin. Furthermore, the two neonates were positive for anti-SSA antibody and were diagnosed with ACHB. Conclusion The pathogenesis of ACHB is closely correlated with anti-SSA/Ro antibody and anti-SSB/La antibody from the mother, and is affected by fetal susceptibility. Early screening and early intervention for ACHB are important.

scholarly journals Monoclonal Origin of Concordant T-Cell Malignancy in Identical Twins

Blood ◽  
1997 ◽  
Vol 89 (1) ◽  
pp. 281-285 ◽  
Author(s):  
Anthony M. Ford ◽  
Maria S. Pombo-de-Oliveira ◽  
Keith P. McCarthy ◽  
James M. MacLean ◽  
Kadma C. Carrico ◽  
...  
Keyword(s):  
T Cell ◽  
Lymphoblastic Leukemia ◽  
In Utero ◽  
Identical Twins ◽  
The Other ◽  
Leukemic Cells ◽  
Disease Manifestation ◽  
Pediatric Leukemia ◽  
History Of ◽  
Cell Malignancy

Acute leukemia has a high concordance rate in young identical twins and in infants this is known, from molecular analysis, to reflect an in utero origin in one twin followed by prenatal metastasis to the other twin via intraplacental anastomoses. The situation in older twins with leukemia has been less clear. We describe a pair of identical twins who were diagnosed with a T-cell malignancy at 9 and 11 years of age, one with T-cell non-Hodgkin's lymphoma and the other with T-cell acute lymphoblastic leukemia. Leukemic cells from the twins shared the same TCRβ gene rearrangement with an identical 11 bp N region. The most plausible interpretation of this result is that these malignancies were initiated in one twin fetus in utero, in a single T-lineage cell that had stable bi-allelic TCRβ rearrangements. Progeny of this cell then spread to the other twin before birth via shared placental vasculature. This was then followed by a 9- and 11-year preleukemic latent period before clinical disease manifestation as leukemia or lymphoma. This result has considerable implications for the etiology and natural history of pediatric leukemia.

scholarly journals Clonal, nonconstitutional rearrangements of the MLL gene in infant twins with acute lymphoblastic leukemia: in utero chromosome rearrangement of 11q23

Blood ◽  
1994 ◽  
Vol 83 (3) ◽  
pp. 641-644 ◽  
Author(s):  
HJ Gill Super ◽  
PG Rothberg ◽  
H Kobayashi ◽  
AI Freeman ◽  
MO Diaz ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Chromosome Rearrangement ◽  
In Utero ◽  
The Other ◽  
Chromosome Band ◽  
Cell Precursor ◽  
Acute Leukemias ◽  
Hematopoietic Stem ◽  
Mll Gene

Abstract Rearrangements of chromosome band 11q23 are common in infant leukemias, comprising more than 70% of the observed chromosome abnormalities in children less than 1 year of age. The MLL gene, which is located at the 11q23 breakpoint in infant, childhood, and adult acute leukemias, has been cloned and has homology to the Drosophila trithorax gene. The breakpoints in MLL are restricted to an 8.3-kilobase pair (kb) region of the gene that is involved in translocations with as many as 29 other chromosomal regions in a number of phenotypically distinct acute leukemias. We have detected an identical, clonal, nonconstitutional rearrangement of the MLL gene in peripheral blood cells from a pair of female infants twins with acute lymphoblastic leukemia (ALL) and a t(11;19)(q23;p13.3). The detection of nonidentical IGH rearrangements suggests that the MLL rearrangement took place in a B-cell precursor or hematopoietic stem cell in one twin which was transferred in utero to the other fetus resulting in ALL with an identical aneuploid karyotype in both infants. We speculate that the other MLL-related infant leukemias may also develop in utero, and that the rearrangements may occur consistently in stem cells or early precursor cells, accounting for the frequency of mixed-lineage leukemia in infants.

Hypoxanthine Levels in Vitreous Humor: Evidence of Hypoxia in Most Infants Who Died of Sudden Infant Death Syndrome

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 306-310
Author(s):  
Torleiv O. Rognum ◽  
Ola D. Saugstad
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Adenosine Monophosphate ◽  
Sudden Infant Death ◽  
Vitreous Humor ◽  
The Other ◽  
Postmortem Changes ◽  
Sudden Infant ◽  
Long Period ◽  
Repeated Sampling

Postmortem changes of the hypoxanthine in vitreous humor in humans were investigated. Hypoxanthine is formed from hypoxic degradation of adenosine monophosphate. Repeated sampling was performed in 13 deceased adults. Keeping the bodies at +6°C, the increase of the hypoxanthine levels was estimated to 3.5 µmol/L per hour when sampling was started more than 12 hours after death (range 2.8 to 5.6 µmol/L per hour). Results of hypoxanthine measurements from vitreous humor in 73 infants with sudden infant death syndrome, 17 infants and children who died sudden violent deaths, and 6 neonates who died suddenly without hypoxemia prior to death were corrected according to the expected postmortem hypoxanthine increase. The time between death and autopsy was similar in the three groups studied. The corrected median hypoxanthine level in the group with sudden infant death syndrome was 227 µmol/L, which is significantly higher than in the other groups; 22 µmol/L in the group who had violent deaths (P < .01), and 0 µmol/L in the neonate group (P < .01). The findings seem to confirm that sudden infant death is preceded by a relatively long period of tissue hypoxia in most cases.

Low Affinity Antibody to Rubella Antigen in Patients After Rubella Infection in Utero

PEDIATRICS ◽  
1988 ◽  
Vol 81 (6) ◽  
pp. 812-814
Author(s):  
Margaret G. Fitzgerald ◽  
Gregory R. Pullen ◽  
Clifford S. Hosking
Keyword(s):  
Natural Infection ◽  
Initial Density ◽  
Ammonium Thiocyanate ◽  
In Utero ◽  
The Other ◽  
Deaf Children ◽  
Control Groups ◽  
Rubella Infection ◽  
And Control

As a measure of the affinity of antirubella antibody, the resistance of the antibody to elution was used by increasing concentration of ammonium thiocyanate. The term affinity index has been used to define the molarity of thiocyanate which leads to a reduction of 50% of the initial density. The serum from a group of patients with intrauterine rubella was compared with the serum from a group of deaf children, some of whom could have rubella, and a group of controls with antibody following natural infection. The results show that the affinity index of patients with rubella is significantly lower than that of controls. The other deaf patients span the range of indices of the rubella and control groups suggesting that a number of those children could have deafness caused by intrauterine rubella.

Deleuze in utero: Deleuze — Sartre and the Essence of Woman

2020 ◽  
Vol 31 (4) ◽  
pp. 25-62
Keyword(s):  
Detailed Analysis ◽  
Sexual Difference ◽  
A Priori ◽  
In Utero ◽  
Mirror Image ◽  
Point Of View ◽  
The Other ◽  
Specific Relationship ◽  
Early Text ◽  
Early Essay

The article is devoted to a detailed analysis of Deleuze’s early essay “Description of Woman” (1945). The author demonstrates that this text contains both the rudiments of the Deleuzian problems of immanence and abundance of desire and also reveals Sartre’s influence on Deleuze’s thought because what Deleuze found in Sartre prompted him to develop his own philosophy. Dissatisfied with Sartre’s concepts of love and desire, Deleuze pushes Sartre toward immanence, for which purpose he pares away those aspects of Sartre’s thought that he sees as problematic. The author shows how Deleuze in this early essay abandons Sartre’s intersubjectivity to discover a specific relationship with woman-as-object-of-desire. Rejecting Sartre’s model of the Other-as-subject, Deleuze arrives at what he calls the a priori Other. The article describes how Deleuze challenged Sartre’s understanding of sexual difference in order to find the ontological and bodily foundations of desire through a rejection of subjective desire in favor of a more fundamental desire. Deleuze hoped to develop a model of desire that would make it something immanent instead of a lack. The article shows that Deleuze’s attempt to discern this immanence in woman fails but that he subsequently provides an aesthetic method for realizing the immanence of desire and thus counteracts Sartre. One of the main points of Deleuze’s early text is rejection of Sartre’s masculine point of view, which makes male desire the foundation of female sexual difference. In conclusion, the author claims that the encounter with Sartre was a watershed event for Deleuze because it was Sartre’s philosophy that Deleuze tried to recast to allow for immanence. In this sense, Deleuze’s first essay is a mirror image of his last essay because both of them seek immanence.

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