Prenatal diagnosis of genetic disease in Canada: report of a collaborative study.

A study of 1223 amniocenteses carried out during 1020 pregnancies in 990 women showed that 2nd-trimester amniocentesis at about 16 weeks'' gestation is a safe, accurate and reliable procedure for the diagnosis of certain classes of genetic disease when it is monitored by ultrasound, performed by a trained obstetrician and carried out in a major health sciences centre. The percentage of fetal losses (4.7%) and neonatal deaths (0.5%) during the study was not greater than in control samples for women 35 years of age and older. The best results were obtained when needles of gauge 20 or 21 were used. The use of needles of gauge 19 or larger and more than two insertions during a single amniocentesis were associated with a significantly greater frequency of fetal loss than a second or even a third amniocentesis during the same pregnancy. For 39 fetuses (3.8%) a diagnosis of a genetic abnormality was made and 23 male fetuses were found to be potentially hemizygous for an X-linked gene. There were 51 therapeutic abortions as a result of the diagnosis. Sixty-six tests (5.4%) gave an inconclusive result and seven (0.6%) gave an erroneous diagnosis; five of the latter (two false-positives and three false-negatives) resulted from the alpha1-fetoprotein test for neural-tube defects and in two cases the sex was incorrectly determined. The frequency of all chromosome abnormalities was 1:20 when the mother''s age was 40 years or more and 1:60 when the mother''s age was between 35 and 39 years. When a mother had previously had a child with a chromosome abnormality the risk of recurrence of such an abnormality was 1:100 when the age of the mother was 35 years or more.     

小儿复发性肠套叠的微创治疗研究

目的：探讨小儿复发性肠套叠（套叠3 次及以上）的微创治疗。方法：回顾性分析2007 年12 月~2013 年1 月期间收治的21 例复发性肠套叠（套叠3 次及以上）患儿的临床资料。结果：21 例患儿均予以腹腔镜探查,3 例患儿仅发现回肠末端肠系膜淋巴结 增生,18 例探及原发病灶：其中Meckel憩室10 例,结肠息肉3 例,肠重复畸形2 例,非霍奇金淋巴瘤1 例,异位胰腺1 例,小肠腺 瘤1 例。20 例术后随访至今均未再次复发,1 例失访。结论：年龄＞2 岁,有多次复发肠套叠病史（套叠3 次及以上）,尤其是短期内 复发频繁的患儿,大多存在肠道器质性病变,应积极手术治疗,且以腹腔镜治疗为佳。     

Removing the Age Restrictions for Rotavirus Vaccination: A Benefit-Risk Modeling Analysis

Background

To minimize potential risk of intussusception, the World Health Organization (WHO) recommended in 2009 that rotavirus immunization should be initiated by age 15 weeks and completed before 32 weeks. These restrictions could adversely impact vaccination coverage and thereby its health impact, particularly in developing countries where delays in vaccination often occur.

Methods and Findings

We conducted a modeling study to estimate the number of rotavirus deaths prevented and the number of intussusception deaths caused by vaccination when administered on the restricted schedule versus an unrestricted schedule whereby rotavirus vaccine would be administered with DTP vaccine up to age 3 years. Countries were grouped on the basis of child mortality rates, using WHO data. Inputs were estimates of WHO rotavirus mortality by week of age from a recent study, intussusception mortality based on a literature review, predicted vaccination rates by week of age from USAID Demographic and Health Surveys, the United Nations Children''s Fund (UNICEF) Multiple Indicator Cluster Surveys (MICS), and WHO-UNICEF 2010 country-specific coverage estimates, and published estimates of vaccine efficacy and vaccine-associated intussusception risk. On the basis of the error estimates and distributions for model inputs, we conducted 2,000 simulations to obtain median estimates of deaths averted and caused as well as the uncertainty ranges, defined as the 5th–95th percentile, to provide an indication of the uncertainty in the estimates.We estimated that in low and low-middle income countries a restricted schedule would prevent 155,800 rotavirus deaths (5th–95th centiles, 83,300–217,700) while causing potentially 253 intussusception deaths (76–689). In contrast, vaccination without age restrictions would prevent 203,000 rotavirus deaths (102,000–281,500) while potentially causing 547 intussusception deaths (237–1,160). Thus, removing the age restrictions would avert an additional 47,200 rotavirus deaths (18,700–63,700) and cause an additional 294 (161–471) intussusception deaths, for an incremental benefit-risk ratio of 154 deaths averted for every death caused by vaccine. These extra deaths prevented under an unrestricted schedule reflect vaccination of an additional 21%–25% children, beyond the 63%–73% of the children who would be vaccinated under the restricted schedule. Importantly, these estimates err on the side of safety in that they assume high vaccine-associated risk of intussusception and do not account for potential herd immunity or non-fatal outcomes.

Conclusions

Our analysis suggests that in low- and middle-income countries the additional lives saved by removing age restrictions for rotavirus vaccination would far outnumber the potential excess vaccine-associated intussusception deaths. Please see later in the article for the Editors'' Summary     

Effects of age on children's intake of large and self-selected food portions

Objective: Whether developmental periods exist in which children become particularly sensitive to environmental influences on eating is unclear. This research evaluated the effects of age on intake of large and self‐selected portions among children 2 to 9 years of age. Research Methods and Procedures: Seventy‐five non‐Hispanic white children 2 to 3, 5 to 6, and 8 to 9 years of age were seen at a dinner meal in reference, large, and self‐selected portion size conditions in which the size of an entrée was age‐appropriate, doubled, and determined by the child, respectively. Weighed food intake data were collected. Entrée bite size and bite frequency were assessed. Height and weight measurements were obtained. Results: The effect of age on children's intake of the large portion was not significant. Entrée consumption was 29% greater (p < 0.001) and meal energy intake was 13% greater (p < 0.01) in the large portion condition than in the reference condition. Increases in entrée consumption were attributable to increases in average bite size (p < 0.001). Neither child weight nor maternal weight predicted children's intake of large portions. Self‐selection resulted in decreased entrée (p < 0.05) and meal energy (p < 0.01) only among those children who ate more when served the large portion. Discussion: The results of this research confirm that serving large entrée portions promotes increased intake at meals among 2‐ to 9‐year‐old children. These findings suggest that any age‐related differences in children's response to large portions are likely to be smaller than previously suspected.     

Nephrotic Syndrome in the Elderly

Though the nephrotic syndrome is generally believed to be uncommon in the elderly, patients aged 60 years or more accounted for 25 out of 100 consecutive adult cases. Six (24%) of these had the minimal change lesion, compared with 16% of the younger adults. The incidence of membranous glomerulonephritis was similar in the two age groups, but proliferative glomerulonephritis was more common in the younger (29%) than in the older group (16%). Amyloidosis did not have a higher incidence in the higher age group. Five of the elderly patients with minimal change lesion were treated with prednisone—in four a complete remission from the nephrotic syndrome followed, while the fifth patient''s course is unknown.These results suggest that, when the patient''s other circumstances allow, the nephrotic syndrome in an elderly patient should be investigated and managed as in younger age groups.     

Childhood deaths from intussusception in England and Wales, 1984-9.

OBJECTIVE--To assess the incidence of potentially avoidable factors contributing to death of children with intussusception. DESIGN--Review of children who died with intussusception in England and Wales between 1984 and 1989 from data of the Office of Population Censuses and Surveys, case notes, coroners'' records, and necropsy reports. MAIN OUTCOME MEASURES--Unambiguous objective criteria such as failure to diagnose intussusception within 24 hours of admission. RESULTS--33 children died of acute intussusception in England and Wales between 1984 and 1989 compared with 67 in the previous six years. Their median age was 7 months (range 2 months to 12 years), and two thirds were boys. Half of the deaths occurred at home or soon after arrival at hospital but 15 patients had surgery. Potentially avoidable factors contributing to death were identified in 20 (61%) children, all but three of whom had ileocolic intussusception. These factors were excessive delay in diagnosis, inadequate intravenous fluid and antibiotic therapy, delay in recognising recurrent or residual intussusception after hydrostatic reduction, and surgical complications. Of the 13 patients in whom no avoidable factors were identified, there were nine of 11 children with isolated small bowel intussusception, who tended to have atypical presentations. CONCLUSION--Although the mortality from intussusception has declined, there remains ample opportunity for improved management.     

Anatomical correction of complete transposition of the great arteries and ventricular septal defect in infancy.

Two patients, aged 8 weeks and 5 years, with D transposition of great arteries and large ventricular septal defect were treated by transection of both aorta and pulmonary arteries and reattaching them to the appropriate ventricles. This included the origins of the coronary arteries. The ventricular septal defect was closed through a transverse ventriculotomy using a Dacron patch. The younger child was operated on as an emergency because of cyanosis and severe heart failure resistant to intensive medical treatment. The older child had had previous banding of the pulmonary artery at the age of 1 year. In both patients pulmonary artery pressure dropped to below half systemic pressure immediately after the operation. Postoperative progress was satisfactory with relief of cyanosis and heart failure. Early anatomical correction of transposition of the great arteries and ventricular septal defect is feasible and should play an important part in the management of these patients.     

An analysis of paternal age and 47,+21 in 35,000 new prenatal cytogenetic diagnosis data from the New York State Chromosome Registry: no significant effect

Summary In 35,680 fetuses of women who had prenatal cytogenetic diagnosis done upon amniotic fluid specimens obtained during 2nd trimester amniocentesis and in whom there was no increased cytogenetic risk except for age, there was no statistically significant evidence for an increase of 47,+21 at any paternal age after adjustment for maternal age. The ratio of observed-to-expected numbers in fathers less than 30 years old was 1.0 and in fathers 40 years or older was 0.9 when compared with numbers derived from maternal-age-specific rates in men 30–39 years old. The ratio was 1.1 for those younger than 34 years when compared with rates in fathers aged 34–39 years old. Only for men 55 years or older was there any, even suggestive, increase. The ratio was roughly 1.5 (9 observed to about 6 expected). This was not statistically significant, and moreover, the increase such as it was, was in men married to women 37–42 years old. Regression analyses using several additive parental age models introducing a parabolic function for paternal age, failed to reveal any paternal age contribution.     

The effects of levodopa therapy in patients with Parkinson's disease I. Clinical response

Eighty-eight patients with Parkinson''s disease were treated with levodopa. A group of elderly patients 65 years and older was compared with a second group under the age of 65, and it was found that generally the younger patients could be treated with greater success than the older ones. Most of the elderly could not tolerate the large doses required to produce optimal physical recovery. Severity of complications forced discontinuance of treatment in a larger percentage of elderly patients. The rate of complications was about equal in the two groups, except the incidence of confusion, which was significantly higher in the elderly. Of the two deaths that occurred, both were in the older group. Results of treatment were better in patients whose families gave positive support.     

Factors associated with HIV/AIDS diagnostic disclosure to HIV infected children receiving HAART: a multi-center study in Addis Ababa, Ethiopia

Background

Diagnostic disclosure of HIV/AIDS to a child is becoming an increasingly common issue in clinical practice. Nevertheless, some parents and health care professionals are reluctant to inform children about their HIV infection status. The objective of this study was to identify the proportion of children who have knowledge of their serostatus and factors associated with disclosure in HIV-infected children receiving HAART in Addis Ababa, Ethiopia.

Methods

A cross-sectional study was conducted in five hospitals in Addis Ababa from February 18, 2008–April 28, 2008. The study populations were parents/caretakers and children living with HIV/AIDS who were receiving Highly Active Antiretroviral Therapy (HAART) in selected hospitals in Addis Ababa. Univariate and multivariate logistic regression analysis were carried out using SPSS 12.0.1 statistical software.

Results

A total of 390 children/caretaker pairs were included in the study. Two hundred forty three children (62.3%) were between 6–9 years of age. HIV/AIDS status was known by 68 (17.4%) children, 93 (29%) caretakers reported knowing the child''s serostatus two years prior to our survey, 180 (46.2%) respondents said that the child should be told about his/her HIV/AIDS status when he/she is older than 14 years of age. Children less than 9 years of age and those living with educated caregivers are less likely to know their results than their counterparts. Children referred from hospital''s in-patient ward before attending the HIV clinic and private clinic were more likely to know their results than those from community clinic.

Conclusion

The proportion of disclosure of HIV/AIDS diagnosis to HIV-infected children is low. Strengthening referral linkage and health education tailored to educated caregivers are recommended to increase the rate of disclosure.     

The effectiveness of the superiorly based pharyngeal flap in relation to the type of palatal defect and timing of the operation

A 10-year review of 39 patients who underwent a superiorly based pharyngeal flap for severe velopharyngeal insufficiency was performed. The effectiveness of the operation, as scored by standardized preoperative and postoperative evaluations, was related to age at operation, type of defect, and duration of velopharyngeal inadequacy. There was no statistical difference between those who were under the age of 6 years (100 percent were improved) at the time of the operation versus those 6 years and older (74 percent improved). Likewise, there was no difference between those patients who received an early flap (92 percent were improved) versus those who received a flap 2 or more years after initial palatorrhaphy (90 percent were improved). The type of palatal defect also was not a significant factor, and none of the patients exhibited a postoperative decrease in function (p less than or equal to 0.001). The operation offered reliable salvage of velopharyngeal competency regardless of the above-mentioned factors.     

Maternal age at last birth in Egypt

To assess the effects of women's education, residence, and marital experience on their age at the birth of their last child, a proportional hazards regression model was applied to 1980 Egyptian Fertility Survey (EFS) data. The detailed data include the date of birth of each child for every women interviewed, and the woman's date of birth and age at interview. Age at last birth was examined by regression analysis on birth history and socioeconomic information. 4 hypotheses were tested: women who are well educated have a greater probability of ending childbearing earlier than women with less education; women in rural areas have a higher probability of having their last child at older ages than urban women; marital disruption without remarriage lowers the probability of older maternal age at last birth; and marital disruption with remarriage increases the probability that a woman stops reproducing at an older age. The overall chi-square indicates a significant regression. All coefficients were significant, except the coefficient for women with intact 1st marriages. Women with more education had a greater probability of ending childbearing earlier than women with less education. Rural women tended to have their last children at ages significantly older than overall age at last birth. Current residence in urban areas had the opposite effect. The coefficient for those with intact 1st marriages was insignificant, meaning that the mean age at last birth for this group of women was not much different from the overall mean. Remarried women tended to end childbearing at ages significantly older than the overall average age at last birth, suggesting that these women tended to have children by their new husbands. Those with dissolved 1st marriages who had not remarried had a higher probability of ending childbearing earlier than did older women. Marriage age and final parity had highly significant negative coefficients; as marriage age and number of children born increased, so did the "survival" time or the age at last birth. Results from the hazards model indicate that the effects were as anticipated. The median age at last birth for the total sample of women aged 45-49 was 45-49 years. The median age at last birth was about 2 years older for rural compared to urban women. Illiterate women had the oldest median age at last birth of the education groups. There was little differences between median ages at last birth for women with intact 1st marriages and those whose 1st unions were dissolved and who had remarried. The median age at last birth increased with final parity.     

RESULTS OF MEDICAL AND SURGICAL MANAGEMENT IN TEN CASES OF CONGENITAL MEGACOLON

Of 20 patients under 15 years of age with proven diagnoses of megacolon, ten were treated surgically with either partial colectomy or resection of the entire colon down to the rectosigmoid junction after thorough trial of medical management. Follow-up shows five of these patients as 100 per cent relieved, one as 75 per cent relieved. Three were entirely well a few months after operation but have not been heard from since. One died of peritonitis on the 16th postoperative day.In four cases in which lumbar sympathectomy was done, the result was partial, temporary or no improvement.Of the patients not operated upon, several have been lost to follow-up, some are doing well on medical treatment, one died in early infancy, and resection is being considered for two.For children with congenital megacolon the authors recommend first a thorough trial of medical treatment consisting of diet, vitamins, drugs and enemas. This should be started as soon as possible after the diagnosis is made, in an attempt to prevent the distention and hypertrophy of the bowel from progressing. If distention remains after a reasonable trial period and the child is not gaining weight adequately, requires repeated hospitalization, and is three years of age or more, then resection of the affected portion of the colon is indicated. The risk of operation has been somewhat reduced with better supportive measures and chemotherapy now available. Since infants and extremely young children do not stand operation on the colon as well as older children, decision to operate should take into consideration the age of the patient. In the reported series, the patient who died following operation was the youngest—2½ years of age.     

MECKEL'S DIVERTICULUM: ITS CLINICAL SIGNIFICANCE—A Report of 54 Cases

Of 54 cases of Meckel''s diverticulum observed at one hospital in a 20-year period, 27 were noted incidentally and 27 caused symptoms. In the latter group, the patients were preponderantly males. The most common symptoms, in order of frequency, were hemorrhage from the bowel, intestinal obstruction, acute diverticulitis, and intussusception. All the complications except intestinal obstruction occurred in infancy and childhood more often than in later life. Intestinal obstruction was limited to adults. There was strong coincidence of complications and ectopic tissue. Surgical excision was done in all cases of diverticulum causing symptoms, and all patients recovered.     

Life Years Lost Associated with Obesity-Related Diseases for U.S. Non-Smoking Adults

The objectives of this paper are to predict life years lost associated with obesity-related diseases (ORDs) for U.S. non-smoking adults, and to examine the relationship between those ORDs and mortality. Data from the National Health Interview Survey, 1997–2000, were used. We employed mixed proportional hazard models to estimate the association between those ORDs and mortality and used simulations to project life years lost associated with the ORDs. We found that obesity-attributable comorbidities are associated with large decreases in life years and increases in mortality rates. The life years lost associated with ORDs is more marked for younger adults than older adults, for blacks than whites, for males than females, and for the more obese than the less obese. Using U.S. non-smoking adults aged 40 to 49 years as an example to illustrate percentage of the life years lost associated with ORDs, we found that the mean life years lost associated with ORDs for U.S. non-smoking black males aged 40 to 49 years with a body mass index above 40 kg/m² was 5.43 years, which translates to a 7.5% reduction in total life years. White males of the same age range and same degree of obesity lost 5.23 life years on average – a 6.8% reduction in total life years, followed by black females (5.04 years, a 6.5% reduction in life years), and white females (4.7 years, a 5.8% reduction in life years). Overall, ORDs increased chances of dying and lessened life years by 0.2 to 11.7 years depending on gender, race, BMI classification, and age.     

The costs of human locomotion: Maternal investment in child transport

This article investigates maternal investment in child carrying and presents a method for determining when it is energetically advantageous for a mother to carry her child rather than force her child to walk independently. I calculate maternal and child energy consumption while walking and develop correction factors to facilitate making these energy calculations for young children. In addition, I investigate the effect of maternal burdens in addition to the child and of external nutritional support on energy consumption. Since maternal energy is a finite resource, the “decision” to carry a child or force it to walk independently is especially important. This decision can be predicted from the body mass of the mother and child and the child's age. If the mother provides all of the child's nutrition, then the mother should choose to carry her child only when the energy usage of the mother carrying the child is less than the sum of the energy used when the mother and child walk independently. The critical velocity, when the two expenditures are equal, can then be determined. Several general hypotheses are also addressed. The critical velocity of a 60 kg mother with a 4-year-old child approximately equals the average walking speed of adult humans. For a lighter mother, the critical velocity is reached when her child is 3 years old, while for heavier mother this point is not reached until her child is 6 years old. The effect of burdens in addition to the child's mass is minimal. Nutritional support of the child by agencies other than the mother decreases the age at which the mother should force the child to walk independently. In some cases, especially for the lightest mothers, it is never in the mother's best energetic interest to carry her child. Am J Phys Anthropol 107:71–85, 1998. © 1998 Wiley-Liss, Inc.     

The Organically Handicapped Child—How Can the Family Physician Help?

The better his understanding of some of the ways in which an organic deficit might affect normal development of the handicapped child, the more able the family physician will be to offer guidance to the family aimed at preventing the development of secondary problems. He can thus be instrumental in helping a child achieve his maximal potential.First, it is important to take into account how the parents'' emotional and intellectual responses to having a defective child may interfere markedly in normal parent-child relationship. Second, ways in which each deficit will limit a child''s exposure to stimuli must not be over-looked. Third, one must consider how a deficit may indirectly distort the normal learning patterns when parents do not make age appropriate demands. Fourth, it is important to understand how specific interference in the area of language skills may cause further developmental retardation. Fifth, one must be aware of special problems that an organically handicapped child must face in the society outside of the family. Last of all, in an older child, one must consider the need for a full scale evaluation to sort out primary and secondary factors in the picture.     

Atrophic Changes of Gastric Mucosa Are Caused by Helicobacter pylori Infection Rather Than Aging: Studies in Asymptomatic Japanese Adults

Background. The current study was designed to evaluate the effect of aging and Helicobacter pylori infection on the gastric mucosa in asymptomatic Japanese adults.
Materials and Methods. Eighty-five asymptomatic healthy adults were recruited from a health-screening center in Sapporo. All subjects underwent endoscopy and gastric biopsy, and serum was obtained for IgG antibodies to H. pylori , serum gastrin, and pepsinogen levels.
Results. The prevalence of atrophic change of the gastric mucosa assessed by pathological findings increased with age (49% in the 30- to 39-year-old group compared to 89% in those 60 years and older, p < .001). The frequency of intestinal metaplasia also increased with age (38% in the 30- to 39-year-old group compared to 82% in those 60 years and older, p < .001). In contrast, the frequency of atrophic gastritis and intestinal metaplasia was extremely low in the H. pylori seronegative group regardless of age. Mean serum gastrin level in H. pylori -positive adults was significantly greater than in those who were H. pylori -negative (114.3 ± 11.2 compared to 65.8 ± 6.5 pg/ml, p < .03). The serum pepsinogen I-II ratio was significantly lower in those with H. pylori infection than in those without (3.1 compared to 6.6, p < .0001).
Conclusions. These results suggest that the chronological changes in the gastric mucosa in Japanese individuals are either entirely related to H. pylori infection or the process is greatly accelerated by H. pylori infection.     

A Prospective Study of the Effect of Childbearing on Weight Gain in African‐American Women

Objective: To prospectively assess the influence of bearing a first, second, or later child on weight gain among African‐American women in the context of other risk factors. Research Methods and Procedures: Data were obtained in a prospective follow‐up study of African‐American women from across the U.S. who are participants in the Black Women's Health Study. Postal questionnaires were used to collect baseline data in 1995 and follow‐up data in 1997 and 1999. Parous and nulliparous women (11, 196) (21 to 39 years old at baseline), of whom 1230 had a singleton birth during follow‐up, are the subjects of the present analyses. We assessed change in BMI (kilograms per meter squared) in relation to childbearing during 4 years of follow‐up, with use of multivariable linear regression to control for important risk factors. Results: During 4 years of follow‐up, the BMI of participants increased by an average of 1.6 kg/m², equivalent to a weight gain of ～4.4 kg. Women who had a child during follow‐up gained more weight than women who remained nulliparous, and those who had a first child gained more than those who had a second or later child. The weight gain associated with childbearing increased with increasing baseline BMI and was appreciable among heavier women. For example, among women with a baseline index of 36, the increase in BMI for women who bore a first child was 1.1 kg/m² more than that of nulliparous women, equivalent to a difference in weight gain of ～3.0 kg. Discussion: Childbearing is an important contributor to weight gain among African‐American women.