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2. The Over-Irradiation Metabolite Derivative, 24-Hydroxylumister-ol3, Reduces UV-Induced Damage in Skin

Author

De Silva, Warusavithana Gunawardena Manori, primary, McCarthy, Bianca Yuko, additional, Han, Jeremy, additional, Yang, Chen, additional, Holland, Andrew J. A., additional, Stern, Harvey, additional, Dixon, Katie Marie, additional, Tang, Edith Kai Yan, additional, Tuckey, Robert Charles, additional, Rybchyn, Mark Stephen, additional, and Mason, Rebecca Sara, additional

Published
2023
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3. Optimising the screening for haemoglobinopathies in pregnancy planning.

Author

Nickel, Robert S., Darbari, Deepika S., Martin, Brenda, Thaniel, Lisa, Stern, Harvey, and Jacquot, Cyril

Subjects
FAMILY planning, GENETIC counselors, MEDICAL screening, COUPLES therapy, HEMOGLOBINOPATHY, RISK assessment, MEDICAL referrals, PARENTS, SICKLE cell anemia, DISEASE risk factors, DISEASE complications
Abstract

Haemoglobinopathies are among the most common inherited disorders around the world. In the United States the diagnosis of haemoglobinopathy or a carrier state is made by universal newborn screening. However, many individuals of childbearing age do not know they are a haemoglobinopathy carrier. Screening for common haemoglobinopathies is generally offered as a part of pregnancy planning so that prospective parents can be counselled regarding the risk of having a child with a haemoglobinopathy. Multiple tests exist to screen patients for presence of haemoglobinopathy carrier or disease state; however, it is crucial to order and interpret the results correctly to appropriately counsel couples. In this case series, we describe clinical scenarios where prospective parents were surprised to unexpectedly have a child with sickle cell disease, a haemoglobinopathy that causes severe clinical complications. Through these cases we demonstrate that deficiencies in testing can occur at different levels which may lead to incorrect estimation of the risk of having a child affected by a haemoglobinopathy. Consultation with a haematologist, laboratory medicine specialist, or genetic counsellor should be considered to select the appropriate test and interpret its results. [ABSTRACT FROM AUTHOR]

Published
2023
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6. The Over-Irradiation Metabolite Derivative, 24-Hydroxylumister-ol 3 , Reduces UV-Induced Damage in Skin.

Author

De Silva, Warusavithana Gunawardena Manori, McCarthy, Bianca Yuko, Han, Jeremy, Yang, Chen, Holland, Andrew J. A., Stern, Harvey, Dixon, Katie Marie, Tang, Edith Kai Yan, Tuckey, Robert Charles, Rybchyn, Mark Stephen, and Mason, Rebecca Sara

Subjects
VITAMIN D receptors, IRRADIATION, REACTIVE oxygen species, DNA damage, DNA repair, CYTOCHROME P-450, SMALL interfering RNA
Abstract

The hormonal form of vitamin D3, 1,25(OH)2D3, reduces UV-induced DNA damage. UV exposure initiates pre-vitamin D3 production in the skin, and continued UV exposure photoisomerizes pre-vitamin D3 to produce "over-irradiation products" such as lumisterol3 (L3). Cytochrome P450 side-chain cleavage enzyme (CYP11A1) in skin catalyzes the conversion of L3 to produce three main derivatives: 24-hydroxy-L3 [24(OH)L3], 22-hydroxy-L3 [22(OH)L3], and 20,22-dihydroxy-L3 [20,22(OH)L3]. The current study investigated the photoprotective properties of the major over-irradiation metabolite, 24(OH)L3, in human primary keratinocytes and human skin explants. The results indicated that treatment immediately after UV with either 24(OH)L3 or 1,25(OH)2D3 reduced UV-induced cyclobutane pyrimidine dimers and oxidative DNA damage, with similar concentration response curves in keratinocytes, although in skin explants, 1,25(OH)2D3 was more potent. The reductions in DNA damage by both compounds were, at least in part, the result of increased DNA repair through increased energy availability via increased glycolysis, as well as increased DNA damage recognition proteins in the nucleotide excision repair pathway. Reductions in UV-induced DNA photolesions by either compound occurred in the presence of lower reactive oxygen species. The results indicated that under in vitro and ex vivo conditions, 24(OH)L3 provided photoprotection against UV damage similar to that of 1,25(OH)2D3. [ABSTRACT FROM AUTHOR]

Published
2023
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11. What price the weather? Outlook fine for temperature derivatives

Author

Stern, Harvey Dr.

Subjects
Derivatives (Financial instruments) -- Usage, Risk management -- Methods, Banking, finance and accounting industries, Business, Economics
Abstract

The pricing of weather derivatives is examined in terms of risk management.

Published
2001

13. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia

Author

Cunniff, Christopher, Jones, Kenneth Lyons, Saal, Howard M., and Stern, Harvey J.

Subjects
Birth defects -- Diagnosis, Infants (Newborn) -- Abnormalities, Birth defects -- Case studies
Abstract

A rare, congenital condition called Fryns syndrome has been found in 20 infants since its elucidation in 1979. The syndrome consists of a variety of abnormalities, including abnormal facial structures, hernias of the diaphragm (the breathing muscle that separates the rib cage from the abdomen), short fingertips, and malformations of the heart, nervous system, digestive system, and genital and urinary systems. Not all patients with the syndrome had all of these difficulties, however. Five new cases of Fryn's syndrome are described. In two cases, elevated maternal blood levels of alpha-fetoprotein measured during pregnancy suggested that the child was at risk for abnormalities. Upon delivery, the infants were in poor condition, as indicated by their Apgar scores, indexes of postdelivery function of the heart, respiration, muscles, and nervous system. The defects in these children are described, confirming and extending the range of problems previously known to exist in this disease. Two of these five cases were brothers, strongly suggesting that the condition may occur in certain families. Only one of the five children survived more than six weeks past birth and only one other child is known to still be living with this condition. The other 23 infants were either stillborn or died soon after birth. The survivor in this report developed seizures and also required repeated surgical procedures to prevent swelling of the head and to enable proper feeding and breathing. Prenatal diagnosis of Fryns syndrome may be possible using ultrasound to visualize the fetus. Discovery of a broadened collarbone, particularly if it coexists with an elevated maternal alpha-fetoprotein level, may improve the rate of diagnosis, but lack of these indicators does not necessarily rule out the existence of the condition. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

26. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females

Author

Pegoraro, Elena, Schimke, R. Neil, Arahata, Kiichi, Hayashi, Yukiko, Stern, Harvey, Marks, Harold, Glasberg, Mark R., Carroll, James E., Taber, Joseph W., Wessel, Henry B., Bauserman, Steven C., Marks, Warren A., Toriello, Helga V., Higgins, James V., Appleton, Staci, Schwartz, Lisa, Garcia, Carlos A., and Hoffman, Eric P.

Subjects
Adult, Male, Parents, Adolescent, Genetic Carrier Screening, DNA Mutational Analysis, Original Articles, Middle Aged, Polymerase Chain Reaction, Muscular Dystrophies, Pedigree, Dystrophin, Oligodeoxyribonucleotides, Receptors, Androgen, Child, Preschool, Dosage Compensation, Genetic, Mutation, Humans, Female, Child, Repetitive Sequences, Nucleic Acid
Abstract

Duchenne muscular dystrophy is one of the most common lethal monogenic disorders and is caused by dystrophin deficiency. The disease is transmitted as an X-linked recessive trait; however, recent biochemical and clinical studies have shown that many girls and women with a primary myopathy have an underlying dystrophinopathy, despite a negative family history for Duchenne dystrophy. These isolated female dystrophinopathy patients carried ambiguous diagnoses with presumed autosomal recessive inheritance (limb-girdle muscular dystrophy) prior to biochemical detection of dystrophin abnormalities in their muscle biopsy. It has been assumed that these female dystrophinopathy patients are heterozygous carriers who show preferential inactivation of the X chromosome harboring the normal dystrophin gene, although this has been shown for only a few X:autosome translocations and for two cases of discordant monozygotic twin female carriers. Here we study X-inactivation patterns of 13 female dystrophinopathy patients--10 isolated cases and 3 cases with a positive family history for Duchenne dystrophy in males. We show that all cases have skewed X-inactivation patterns in peripheral blood DNA. Of the nine isolated cases informative in our assay, eight showed inheritance of the dystrophin gene mutation from the paternal germ line. Only a single case showed maternal inheritance. The 10-fold higher incidence of paternal transmission of dystrophin gene mutations in these cases is at 30-fold variance with Bayesian predictions and gene mutation rates. Thus, our results suggest some mechanistic interaction between new dystrophin gene mutations, paternal inheritance, and skewed X inactivation. Our results provide both empirical risk data and a molecular diagnostic test method, which permit genetic counseling and prenatal diagnosis of this new category of patients.

Published
1994

36. Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis

Author

Toudjarska, Iva, primary, Kilpatrick, Michael W., additional, Lembessis, Peter, additional, Carra, Scott, additional, Harton, Gary L., additional, Sisson, Michael E., additional, Black, Susan H., additional, Stern, Harvey J., additional, Gelman-Kohan, Zully, additional, Shohat, Mordechai, additional, and Tsipouras, Petros, additional

Published
2001
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47. LETTERS.

Author

Tubman, Harry, Solms, Tony, Ma, Robert, Fallon, Judy, Hankins, Bruce, Singh, Lakhvir, Lea, Herbert K., Abdullahi, Bello, McKenzie, Jon C., Swieca, Michael, Chiu, Laura, Clark, Marvin, Stern, Harvey, Russo, Andrea, Bennett, B. Tony, and Krikava, Mark

Subjects
LETTERS to the editor, GUERRILLA warfare, PRIME ministers, WEAPONS of mass destruction, WAR
Abstract

Several letters to the editor are presented in response to articles in previous issues, including "Life Under Fire," in the July 14, 2003 issue, "Who Lost the WMD?," in the July 7, 2003 issue, and "The Lost Art of the Insult," by Josef Joffe in the July 14, 2003 issue.

Published
2003

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