Friday, November 27, 2009

Clin Dysmorphol. 2009 Nov 24. [Epub ahead of print]

Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.
Temtamy SA, Aglan MS, Ashour AM, El-Badry TH.

Departments of aClinical Genetics bOrodental Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings.
The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies.

PMID: 19940763 [PubMed - as supplied by publisher]


Wednesday, November 25, 2009

Miscarriage Significantly Associated With Increasing Paternal Age,

Miscarriage Significantly Associated With Increasing Paternal Age, Childbirth
Time: 2009-11-24 - Category: Childbirth
Miscarriage and Paternal Age

In a study conducted at Columbia University’s Mailman School of Public Health and the New York Psychiatric Institute researchers found that increasing paternal age is significantly associated with increased rates of spontaneous abortion, a pregnancy loss occurring before twenty weeks of gestation. Results indicate that as the male partner ages there is a steady increase in rate of miscarriage. Women with partners aged 35 or older had nearly three times as many miscarriages as compared with women conceiving with men younger than 25 years of age. This finding is independent of the woman’s age and not explained by other factors such as diabetes, smoking, or previous spontaneous abortions, and adds to the growing realization of the importance of paternal characteristics for successful reproductive outcome.

%26quot;There has been a tremendous amount of research on women, and how their characteristics affect pregnancy outcomes. Of course, women’s importance and centrality to pregnancy cannot be overstated. However, scientists seem to have forgotten that men are equal partners in reproduction, and their influence should be studied to the same degree. Our group has focused on men’s influence on the health of their offspring, and we have made some fascinating discoveries,%26quot; said Karine Kleinhaus, MD, MPH currently in Columbia’s Department of Psychiatry and first author of the study. %26quot;This study shows how a man’s age affects the likelihood of miscarriage.%26quot;

Earlier research by the Columbia scientists showed that older men’s wives suffer from preeclampsia, while the offspring of older men are more likely to get schizophrenia. %26quot;This is not as surprising as it may sound at first, as it was already shown by other researchers that older men have more abnormalities in their sperm, and that their children are more susceptible to certain birth defects,%26quot; observes Dr. Klienhaus. In fact, the American Society for Reproductive Medicine has set an upper age limit of 40 years old for semen donors because of the increased risk of genetic abnormalities in the offspring of older fathers.

The international team of scientists involved in the study used a large historical data set containing information on many characteristics of mothers and fathers that might contribute to spontaneous abortion. The researchers analyzed data from the ante-natal or post-partum interviews of 13,865 women. This data was recorded in the Jerusalem Perinatal Study, a population-based cohort derived from 92,408 births in Jerusalem in 1964-1976.

Accordingly, the study, which focused exclusively on spontaneous abortion as the outcome, has as one of its strengths its large sample size and its extensive data, which permit consideration of important potential confounders not included together in other analyses. These include variables such as maternal diabetes, parity, history of prior spontaneous and induced abortions, and history of maternal smoking, and socioeconomic status.

The cohort used for this study is unique, with immigrants from many origins, including Iran, Iraq, Afghanistan and countries of North Africa, as well as Central and Eastern Europe. %26quot;This broad mix of backgrounds makes our study findings more generalizable,%26quot; observed Susan Harlap, MD, professor of clinical epidemiology in the Mailman School of Public Health’s Department of Epidemiology, and the leader of this research team. %26quot;While several previous studies suggested that father’s age might contribute to miscarriage, they failed to clarify whether there is a cut-off age or a progressive trend over the whole range of ages.%26quot;

The study findings generate strong support for the association of increasing paternal age with increasing rates of spontaneous abortion, and are corroborated by other published studies. %26quot;Advanced paternal age may result in only a slight increase in the chance of spontaneous abortion for a specific couple. Nevertheless, as child bearing is increasingly delayed in Western societies, this study provides important information for people who are planning their families,%26quot; said Dr. Kleinhaus. %26quot;The study also adds to a growing understanding of how men’s age, health, and occupations can affect their partner’s pregnancies and the offspring’s future development.%26quot;

Tags: Age, Associated, Childbirth, Increasing, Miscarriage, Paternal, Significantly, With


Sunday, November 22, 2009

"The biological clock for men and women is really the same," says Dr. Dolores Malaspina

Is Your Sperm Too Old?
Turns out that it’s not just women who have a biological clock.
By Kevin Conley, DetailsFind more
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While you've never been against the idea of a serious relationship, you are in no particular rush to become a schlub. The attendant trappings of new fatherhood—the preschool viewings, the sleepless nights, the humiliation of carrying a diaper bag—aren't exactly calling out to you the way, say, another night slinging Pisco sours would. The ever-intensifying din of the proverbial biological clock? That's for the opposite sex to worry about—you know, like periods, frizz and whether Mr. Big will dump "Carrie in the Sex and the City" sequel. As far as you know, your little swim team of DNA carriers will be competing at Olympic level into Letterman age. So what's the rush?

"I always thought my biological clock was the 36 hours I had left after I took my Cialis pill," says Zack, a 30-year-old producer in Los Angeles. "That's the only clock I've ever felt ticking." Turns out, Zack might want to consider the unsung glories of fatherhood.

According to a study released last March in the Public Library of Science Medicine, children born to fathers who were 20 scored an average of 2 points higher on an IQ test than children born to 50-year-old fathers. And that's not all. Recent studies from Israel, California and Sweden have connected "late paternal age" with any number of serious medical conditions: The longer you wait, the more likely it is that your kid will be affected by schizophrenia, dwarfism, bipolar disorder, autism, Marfan syndrome, certain childhood cancers, or even, later in life, Alzheimer's. In some cases, the risk factors skyrocket. A 2005 study conducted by the University of California, Los Angeles, found a fourfold rise in Down syndrome among babies born to men 50 and older. Worse still, those risk factors aren't limited to your tweed-sporting years: Statistically, "late paternal age" starts at 30, as in Zack's age. A 2006 study conducted by Mount Sinai School of Medicine found that fathers in their 30s have children with about 1.5 times the risk of developing autism compared with fathers in their teens and 20s. That factor jumps to five times for dads in their 40s. The cherry on the cake? The American Society for Reproductive Medicine recommends that sperm banks do not accept specimens from men over 40.

"The biological clock for men and women is really the same," says Dr. Dolores Malaspina of Bellevue Hospital Center in New York City and New York University, who conducted one of the first studies. "It's just that men can keep having babies."

The biology behind this isn't hard to grasp: Starting in puberty, spermatogonia, the master copies for sperm production, replicate themselves every couple of weeks. After 300 to 500 copies—somewhere in your 30s—a meaningful number of small copy errors, or point mutations, start to emerge, which accumulate over time.

Yet, despite the alarming new science, most men greet parenthood with a sense of urgency that's more in line with Zack's than Angelina Jolie's. The reason is simple: While women are inculcated with the risks of late-age motherhood in sixth-grade sex ed, men remain blissfully ignorant. Since the recent studies have been published, the bad news still doesn't seem to be making it to the doctor's office. Scott, a 32-year-old schoolteacher from Babylon, N.Y., decided to start a family when he was Zack's age, strictly because he wanted to raise his child while he was young. "For me the doctors were like, 'Hey, this is going to be good. You're still active,'" Scott says. "Nobody ever told me about the medical risks of being an older dad."

That's because men don't usually get this news flash until they're looking through a microscope at a batch of fugly sperm with no sense of direction. Swain, a 37-year-old IT professional in Dallas, wishes he had heard sooner. His wife is four years younger than he is, and they decided to wait. "What I did was let her clock be the one in control," Swain says. "I would have been happy having kids five, six years ago, but she just wasn't ready. The female clock seems to dominate the conversation."

But don't expect sweeping social change anytime soon. "Tell a man he's got a chance of having kids with genetic abnormalities, and it's like he's going through the stages of the acceptance of death," says Dr. Harry Fisch, a professor of urology and the author of The Male Biological Clock. "They'll say, 'I'm losing my manliness, my sexual ability.' To them it all comes under the same umbrella."

The good news is that no one, not even Malaspina, is suggesting that older men eschew the joys of fatherhood. But if you're a younger guy who hasn't thought twice about postponing it, be forewarned: The female of the species is about to get her just rewards. That bell tolling? It's for you.

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Saturday, November 21, 2009

Later Paternal Age and Sex Differences in Schizophrenia Symptoms.

Later Paternal Age and Sex Differences in Schizophrenia.


Sunday, November 01, 2009

Testicular Tumors May Explain Why Some Diseases Are More Common In Children Of Older Fathers

Testicular Tumors May Explain Why Some Diseases Are More Common In Children Of Older Fathers
ScienceDaily (Oct. 26, 2009) — A rare form of testicular tumour has provided scientists with new insights into how genetic changes (mutations) arise in our children. The research, funded by the Wellcome Trust and the Danish Cancer Society, could explain why certain diseases are more common in the children of older fathers.