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1.  A Case Report Demonstrating How the Clinical Presentation of the Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma Can Mimic Benign Riedel's Thyroiditis 
Case Reports in Endocrinology  2015;2015:686085.
A 44-year-old female presented with a two-month history of a neck mass, sore throat, hoarseness, and intermittent dysphagia. Examination revealed a “woody” hard swelling arising from the right lobe of the thyroid. Clinically this was felt to be classical Riedel's thyroiditis (RT). Thyroid ultrasound showed a diffusely enlarged, low echogenicity thyroid with a multinodular goitre. An abnormal nodule extending across the isthmus was noted. Following a nondiagnostic fine needle aspiration, an open core biopsy was performed. This showed dense sclerotic fibrosis punctuated by nodular mononuclear inflammatory cells, which obscured follicular epithelial cells consistent with a fibrosing thyroiditis (Riedel's thyroiditis). A biopsy of pretracheal lymph nodes showed a sclerotic process throughout the lymph nodes and nests of epithelium bands with squamous differentiation obscured by a fibrous process. These findings raised the differential diagnosis of diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC) with metastasis to lymph nodes. A total thyroidectomy and pretracheal lymph node dissection were performed. The final histological diagnosis was DSV-PTC. When managing a patient with presumed RT it is important to consider malignancy in the differential. DSV-PTC is one of the more aggressive forms of thyroid cancer but with early diagnosis and appropriate treatment patients may have excellent outcomes.
PMCID: PMC4468291  PMID: 26137328
2.  Dual Method Use Among a Sample of First-Year College Women 
Dual method use—using one type of contraceptive to reduce the risk of STDs and another to prevent pregnancy—is effective but understudied. No prior studies have employed an event-level approach to examining characteristics associated with dual method use among college women.
In 12 consecutive monthly surveys conducted in 2009–2010, data on 1,843 vaginal intercourse events were collected from 296 first-year college women. Women reported on their use of condoms and hormonal contraceptives during all events. Multilevel regression analysis was used to assess associations between event-, month- and person-level characteristics and hormonal use and dual method use.
Women used hormonal contraceptives during 53% of events and condoms during 63%. Dual method use was reported 28% of the time, and only 14% of participants were consistent users of both methods. The likelihood of dual method use was elevated when sex partners were friends as opposed to romantic partners or ex-boyfriends, and among women who had received an STD diagnosis prior to college (odds ratios, 2.5–2.9); it also increased with level of religiosity (coefficient, 0.8). Dual use was less likely when less reliable methods were used (odds ratio, 0.2) and when women reported more months of hormonal use (0.8), were older (coefficient, −4.7) and had had a greater number of partners before college (−0.3).
A better understanding of the characteristics associated with dual method use may help in the design of potential intervention efforts.
PMCID: PMC4201449  PMID: 24684480
3.  Development of diagnostic microsatellite markers from whole-genome sequences of Ammodramus sparrows for assessing admixture in a hybrid zone 
Ecology and Evolution  2015;5(11):2267-2283.
Studies of hybridization and introgression and, in particular, the identification of admixed individuals in natural populations benefit from the use of diagnostic genetic markers that reliably differentiate pure species from each other and their hybrid forms. Such diagnostic markers are often infrequent in the genomes of closely related species, and genomewide data facilitate their discovery. We used whole-genome data from Illumina HiSeqS2000 sequencing of two recently diverged (600,000 years) and hybridizing, avian, sister species, the Saltmarsh (Ammodramus caudacutus) and Nelson's (A. nelsoni) Sparrow, to develop a suite of diagnostic markers for high-resolution identification of pure and admixed individuals. We compared the microsatellite repeat regions identified in the genomes of the two species and selected a subset of 37 loci that differed between the species in repeat number. We screened these loci on 12 pure individuals of each species and report on the 34 that successfully amplified. From these, we developed a panel of the 12 most diagnostic loci, which we evaluated on 96 individuals, including individuals from both allopatric populations and sympatric individuals from the hybrid zone. Using simulations, we evaluated the power of the marker panel for accurate assignments of individuals to their appropriate pure species and hybrid genotypic classes (F1, F2, and backcrosses). The markers proved highly informative for species discrimination and had high accuracy for classifying admixed individuals into their genotypic classes. These markers will aid future investigations of introgressive hybridization in this system and aid conservation efforts aimed at monitoring and preserving pure species. Our approach is transferable to other study systems consisting of closely related and incipient species.
PMCID: PMC4461426  PMID: 26078861
Admixture; Ammodramus; diagnostic markers; hybridization; next-generation sequencing
4.  Hypoglossal Nerve Stimulation Improves Obstructive Sleep Apnea: 12 Month Outcomes 
Journal of sleep research  2013;23(1):77-83.
Reduced upper airway muscle activity during sleep is a key contributor to obstructive sleep apnoea (OSA) pathogenesis. Hypoglossal nerve stimulation (HGNS) activates upper airway dilator muscles, including the genioglossus, and has the potential to reduce OSA severity. The objective of this study was to examine the safety, feasibility, and efficacy of a novel HGNS system (HGNS®, Apnex Medical, Inc., St. Paul, MN) in treating OSA at 12 months following implantation. Thirty-one subjects (35% female, age 52·4±9·4 years) with moderate to severe OSA and unable to tolerate positive airway pressure underwent surgical implantation and activation of the HGNS system in a prospective single-arm interventional trial. Primary outcomes were changes in OSA severity (apnoea-hypopnoea index, AHI, from in-laboratory polysomnogram) and sleep-related quality of life (Functional Outcomes of Sleep Questionnaire, FOSQ). HGNS was used on 86±16% of nights for 5·4±1·4 hours per night. There was a significant improvement (p < 0·001) from baseline to 12 months in AHI (45.4±17·5 to 25·3±20·6 events/h) and FOSQ score (14·2±2·0 to 17·0±2·4) as well as other polysomnogram and symptom measures. Outcomes were stable compared to 6 months following implantation. Three serious device-related adverse events occurred: an infection requiring device removal and two stimulation lead cuff dislodgements requiring replacement. There were no significant adverse events with onset later than 6 months following implantation. HGNS demonstrated favourable safety, feasibility, and efficacy.
PMCID: PMC4323268  PMID: 24033656
5.  Osteogenesis imperfecta in adults 
A 42-year-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone clinic. She has a daughter with osteogenesis imperfecta who is seen regularly in a specialist pediatric clinic, but the patient herself hasn’t had a clinical consultation in years. She has pain and stiffness in her back and is worried for her future bone health. The patient asks, “Am I going to fall apart?” She had numerous fractures in childhood, including fractures of her femur and wrist; fractured her ankles several times in her late teens; and had occasional fractures in adulthood. Her last fracture was a comminuted fracture of her humerus three years ago, when she stumbled and fell forward onto her hands and knees. The woman is hyperextensible and thinks her ankles feel weak. Her bone mineral density T scores are –2.6 at the lumbar spine and –1.9 at the total hip, and spine imaging shows several vertebral endplate deformities, but overall preservation of vertebral height. What are the available pharmacological and nonpharmacological strategies to preserve her skeletal health and function?
PMCID: PMC3904636  PMID: 24463444
6.  Use of the Dye Stain Assay and Ultraviolet Light Test for Assessing Vaginal Insertion of Placebo-filled Applicators Before and After Sex 
Sexually transmitted diseases  2013;40(12):939-943.
Applicator dye staining and ultraviolet (UV) light have been used in trials to measure adherence, but not in the setting of before and after sex gel dosing (BAT-24). This study was designed to determine if semen or pre-sex gel dosing impacts the sensitivity and specificity of a dye stain assay (DSA) for measuring vaginal insertion of placebo-filled applicators with BAT-24 dosing.
Healthy monogamous couples received Microlax®-type applicators filled with hydroxyethylcelluose placebo gel. Women were instructed to vaginally insert one dose of gel before and a second dose after sex and to return applicators within 48 hours after sex. Applicators were stained to detect semen followed by UV then DSA and scored by two readers. Positive and negative controls were randomly included in applicator batches.
Fifteen couples completed the study. Each female returned at least six applicators over a 30-day period. The sensitivity for insertion of post-sex applicators was higher for UV (97%) compared to DSA (90%) and the specificity was similar (≥96%). For pre-sex applicators, the sensitivity and specificity were higher for DSA (100%) compared to UV testing (87% sensitivity, 96% specificity). Among returned post-sex applicators, 95% tested positive by UV compared to 87% by DSA. Agreement between readers was significantly better on the pre-sex applicators for DSA than for UV and for post-sex readings agreement was less than half that for UV, although the results were not statistically significant.
Applicator tests are feasible for measuring adherence in trials with gel dosing before and after sex.
PMCID: PMC4143393  PMID: 24220355
7.  Predictors of Sexual Hookups: A Theory-Based, Prospective Study of First-Year College Women 
Archives of sexual behavior  2013;42(8):10.1007/s10508-013-0106-0.
Hooking up, or engaging in sexual interactions outside of committed relationships, has become increasingly common among college students. This study sought to identify predictors of sexual hookup behavior among first-year college women using a prospective longitudinal design. We used problem behavior theory (Jessor, 1991) as an organizing conceptual framework and examined risk and protective factors for hooking up from three domains: personality, behavior, and perceived environment. Participants (N = 483, 67% White) completed an initial baseline survey that assessed risk and protective factors, and nine monthly follow-up surveys that assessed the number of hookups involving performing oral sex, receiving oral sex, and vaginal sex. Over the course of the school year, 20% of women engaged in at least one hookup involving receiving oral sex, 25% engaged in at least one hookup involving performing oral sex, and 25% engaged in at least one hookup involving vaginal sex. Using two-part modeling with logistic and negative binomial regression, we identified predictors of hooking up. Risk factors for sexual hookups included hookup intentions, impulsivity, sensation-seeking, pre-college hookups, alcohol use, marijuana use, social comparison orientation, and situational triggers for hookups. Protective factors against sexual hookups included subjective religiosity, self-esteem, religious service attendance, and having married parents. Race/ethnicity, socioeconomic status, hookup attitudes, depression, cigarette smoking, academic achievement, injunctive norms, parental connectedness, and being in a romantic relationship were not consistent predictors of sexual hookups. Future research on hookups should consider the array of individual and social factors that influence this behavior.
PMCID: PMC3779659  PMID: 23657811
hooking up; casual sex; sexual behavior; college students; women
8.  Female College Students’ Media Use and Academic Outcomes: Results from a Longitudinal Cohort Study 
Emerging adulthood (Print)  2013;1(3):219-232.
This longitudinal study describes women’s media use during their first year of college and examines associations between media use and academic outcomes. Female students (N = 483, Mage = 18.1 years) reported on their use of 11 media forms and their grade point average, academic behaviors, academic confidence, and problems affecting schoolwork. Allowing for multi-tasking, women reported nearly 12 hours of media use per day; use of texting, music, the Internet, and social networking was heaviest. In general, media use was negatively associated with academic outcomes after controlling for prior academics and demographics. Exceptions were newspaper reading and music listening, which were positively associated with academic outcomes. There were significant indirect effects of magazine reading and social networking on GPA via academic behaviors, confidence, and problems. Results show that female college students are heavy users of new media, and that some forms of media use may adversely impact academic performance.
PMCID: PMC3911790  PMID: 24505554
9.  The Relationship Between Maternal and Fetal Vitamin D, Insulin Resistance, and Fetal Growth 
Reproductive Sciences  2013;20(5):536-541.
Evidence for a role of vitamin D in maintaining normal glucose homeostasis is inconclusive. We sought to clarify the relationship between maternal and fetal insulin resistance and vitamin D status. This is a prospective cohort study of 60 caucasian pregnant women. Concentrations of 25-hydroxyvitamin D (25-OHD), glucose, insulin, and leptin were measured in early pregnancy and at 28 weeks. Ultrasound at 34 weeks assessed fetal anthropometry including abdominal wall width, a marker of fetal adiposity. At delivery birth weight was recorded and fetal 25-OHD, glucose, C-peptide, and leptin measured in cord blood. Insulin resistance was calculated using the Homeostasis Model Assessment (HOMA) equation. We found that those with lower 25-OHD in early pregnancy had higher HOMA indices at 28 weeks, (r = −.32, P = .02). No significant relationship existed between maternal or fetal leptin and 25-OHD, or between maternal or fetal 25-OHD and fetal anthropometry or birth weight. The incidence of vitamin D deficiency was high at each time point (15%-45%). These findings lend support to routine antenatal supplementation with vitamin D in at risk populations.
PMCID: PMC3713539  PMID: 22968764
vitamin D; fetal adiposity; maternal BMI; glucose; insulin resistance
10.  Longitudinal Associations Between Health Behaviors and Mental Health in Low-Income Adults 
Although there are established relationships between physical and mental health, few studies have explored the relationship between health behaviors and mental health over time.
To explore rates of health compromising behaviors (HCBs) and the longitudinal relationship between HCBs and depression, anxiety, and stress.
Five waves of data were collected over 1 year from 482 patients at an urban public health clinic (47% female, 68% African American, Mage = 28).
Smoking (61%), binge drinking (52%), illegal drug use (53%), unprotected sex with non-primary partners (55%), and fast food consumption (71%) were common, while consumption of fruits or vegetables (30%) and breakfast (17%) were rare. Cross-lagged models identified within-time associations between HCBs and depression/anxiety and stress. Additionally, depression/anxiety and stress predicted later HCBs, but HCBs did not predict later mental health.
Results suggest that targeting mental health may be important to promoting improvements across multiple health behaviors.
PMCID: PMC3717991  PMID: 23997836
health behavior; mental health; depression; anxiety; perceived stress
11.  Changes in Women’s Condom Use over the First Year of College 
Journal of sex research  2012;50(2):10.1080/00224499.2011.642024.
Most college students are sexually active, engage in serially monogamous relationships, and use condoms inconsistently. Little is known about how condom use changes during college and even less about variables predicting changes in use. We used latent growth modeling (LGM) to examine changes in condom use during the first year of college among 279 women (Mage = 18.0, 74% White) who provided monthly reports on condom use frequency. At study entry, participants also reported on theoretically-suggested risk and protective factors. We examined predictors of changes in use after controlling for use of alternative contraception and partner type. LGMs showed that women decreased their condom use during the first year of college. Levels of condom use were lower initially among women with strong alcohol-sexual risk expectancies, women with more previous sexual partners, women who did not smoke marijuana, and African-American women. Decreases in condom use were greater among women with lower GPAs, women from lower SES families, and women who engaged in binge drinking. Reductions in condom use may place women at greater risk of unplanned pregnancy and sexually transmitted infections. Identification of factors associated with decreases in condom use will enable targeted educational and intervention efforts.
PMCID: PMC3865869  PMID: 22235757
12.  The influence of a low glycemic index dietary intervention on maternal dietary intake, glycemic index and gestational weight gain during pregnancy: a randomized controlled trial 
Nutrition Journal  2013;12:140.
Maternal diet is known to impact pregnancy outcome. Following a low glycemic index (GI) diet during pregnancy has been shown to improve maternal glycemia and reduce infant birthweight and may be associated with a higher fibre intake. We assessed the impact of a low GI dietary intervention on maternal GI, nutritional intake and gestational weight gain (GWG) during pregnancy. Compliance and acceptability of the low GI diet was also examined.
Eight hundred women were randomised in early pregnancy to receive low GI and healthy eating dietary advice or to receive standard maternity care. The intervention group received dietary advice at a group education session before 22 weeks gestation. All women completed a 3 day food diary during each trimester of pregnancy. Two hundred and thirty five women from the intervention arm and 285 women from the control arm returned complete 3x3d FDs and were included in the present analysis.
Maternal GI was significantly reduced in the intervention group at trimester 2 and 3. The numbers of women within the lowest quartile of GI increased from 37% in trimester 1 to 52% in trimester 3 (P < 0.001) among the intervention group. The intervention group had significantly lower energy intake (P < 0.05), higher protein (% TE) (P < 0.01) and higher dietary fibre intake (P < 0.01) post intervention. Consumption of food groups with known high GI values were significantly reduced among the intervention group. Women in the intervention low GI group were less likely to exceed the Institute of Medicine’s GWG goals.
A dietary intervention in early pregnancy had a positive influence on maternal GI, food and nutrient intakes and GWG. Following a low GI diet may be particularly beneficial for women at risk of exceeding the GWG goals for pregnancy.
Trial registration
Current Controlled Trials Registration Number: ISRCTN54392969.
PMCID: PMC4176103  PMID: 24175958
Glycemic index; Pregnancy; Gestational weight gain
13.  Exposure to Different Types of Violence and Subsequent Sexual Risk Behavior among Female STD Clinic Patients: A Latent Class Analysis 
Psychology of violence  2012;2(4):339-354.
Diverse forms of violence, including childhood maltreatment (CM), intimate partner violence (IPV), and exposure to community violence (ECV), have been linked separately with sexual risk behaviors. However, few studies have explored multiple experiences of violence simultaneously in relation to sexual risk-taking, especially in women who are most vulnerable to violent experiences.
Participants were 481 women (66% African American, Mage = 27 years) attending a publicly-funded STD clinic who reported on their past and current experiences with violence and their current sexual risk behavior. We identified patterns of experience with violence using latent class analysis (LCA) and investigated which combinations of experiences were associated with the riskiest sexual outcomes.
Four classes of women with different experiences of violence were identified: Low Violence (39%), Predominantly ECV (20%), Predominantly CM (23%), and Multiply Victimized (18%). Women in the Multiply Victimized and Predominantly ECV classes reported the highest levels of sexual risk behavior, including more lifetime sexual partners and a greater likelihood of receiving STD treatment and using substances before sex.
Women with different patterns of violent experiences differed in their sexual risk behavior. Interventions to reduce sexual risk should address violence against women, focusing on experiences with multiple types of violence and experiences specifically with ECV. Additional research is needed to determine the best ways to address violence in sexual risk reduction interventions.
PMCID: PMC3634364  PMID: 23626921
sexual risk behavior; child sexual abuse; child abuse; intimate partner violence; community violence
14.  Longitudinal associations between health behaviors and mental health in low-income adults 
Although there are established relationships between physical and mental health, few studies have explored the relationship between health behaviors and mental health over time. To explore rates of health-compromising behaviors (HCBs) and the longitudinal relationship between HCBs and depression, anxiety, and stress, five waves of data were collected over 1 year from 482 patients at an urban public health clinic (47 % female, 68 % African-American, Mage = 28). Smoking (61 %), binge drinking (52 %), illegal drug use (53 %), unprotected sex with non-primary partners (55 %), and fast food consumption (71 %) were common, while consumption of fruits or vegetables (30 %) and breakfast (17 %) were rare. Cross-lagged models identified within-time associations between HCBs and depression/anxiety and stress. Additionally, depression/anxiety and stress predicted later HCBs, but HCBs did not predict later mental health. Results suggest that targeting mental health may be important to promoting improvements across multiple health behaviors.
PMCID: PMC3717991  PMID: 23997836
Health behavior; Mental health; Depression; Anxiety; Perceived stress
15.  Predicting Condom Use Using the Information-Motivation-Behavioral Skills (IMB) Model: A Multivariate Latent Growth Curve Analysis 
The Information-Motivation-Behavioral Skills (IMB) model often guides sexual risk reduction programs even though no studies have examined covariation in the theory’s constructs in a dynamic fashion with longitudinal data.
Using new developments in latent growth modeling, we explore how changes in information, motivation, and behavioral skills over 9 months relate to changes in condom use among STD clinic patients.
Participants (N = 1281, 50% female, 66% African American) completed measures of IMB constructs at three time points. We used parallel process latent growth modeling to examine associations among intercepts and slopes of IMB constructs.
Initial levels of motivation, behavioral skills, and condom use were all positively associated, with behavioral skills partially mediating associations between motivation and condom use. Changes over time in behavioral skills positively related to changes in condom use.
Results support the key role of behavioral skills in sexual risk reduction, suggesting these skills should be targeted in HIV prevention interventions.
PMCID: PMC3179537  PMID: 21638196
Condoms; HIV; IMB; Sexual risk behavior; STD
16.  Using Growth Mixture Modeling to Identify Heterosexual Men who Reduce Their Frequency of Unprotected Sex Following a Behavioral Intervention 
AIDS and Behavior  2012;16(6):1501-1510.
Using growth mixture modeling, two 12-month trajectories of unprotected sex were identified in 210 heterosexual men (76% African American, Mage = 33.2 years) attending a sexual risk reduction intervention. Risk Reducers (46%) reported fewer acts of unprotected sex following intervention, whereas Risk Maintainers (54%) reported continuously high levels of unprotected sex. These groups did not differ with respect to demographic characteristics or intervention type. However, Risk Maintainers were more likely than Risk Reducers to report lifetime sex work, forced sex in the past year, and alcohol use before sex at baseline. They had higher levels of peak alcohol use, poorer condom skills, and scored lower on stage of change for condom use at baseline. Risk Maintainers were also more likely to have steady partners at baseline and less likely to change partner status following intervention. Understanding factors distinguishing these groups can contribute to the development of targeted risk reduction interventions.
PMCID: PMC3402644  PMID: 22543674
sexual risk reduction; HIV prevention; sexually transmitted disease; unsafe sex; longitudinal studies
17.  Measuring cancer care coordination: development and validation of a questionnaire for patients 
BMC Cancer  2011;11:298.
Improving the coordination of cancer care is a priority area for service improvement. However, quality improvement initiatives are hindered by the lack of accurate and reliable measures of this aspect of cancer care. This study was conducted to develop a questionnaire to measures patients' experience of cancer care coordination and to assess the psychometric properties of this instrument.
Questionnaire items were developed on the basis of literature review and qualitative research involving focus groups and interviews with cancer patients, carers and clinicians. The draft instrument was completed 686 patients who had been recently treated for a newly diagnosed cancer, including patients from metropolitan, regional and rural areas of New South Wales, Australia. To assess test-retest reliability, 119 patients completed the questionnaire twice. Unreliable items those with limited variability or high levels of missing data were eliminated. Exploratory factor analysis was conducted to define the underlying factor structure of the remaining items and subscales were constructed. Correlations between these and global measures of the experience of care coordination and the quality of care were assessed.
Of 40 items included in the draft questionnaire, 20 were eliminated due to poor test-retest reliability (n = 4), limited response distributions (n = 8), failure to load onto a factor (n = 7) or detrimental effect on the internal consistency of the scale (n = 1). The remaining 20 items loaded onto two factors named 'Communication' and 'Navigation', which explained 91% of the common variance. Internal consistency was with high for the instrument (Cronbach's alpha 0.88) and each subscale (Cronbach's alpha 0.87 and 0.73 respectively). There was no apparent 'floor' or 'ceiling' effect for the total score or the Communication subscale, but evidence of a ceiling effect for the Navigation subscale with 21% of respondents achieving the highest possible score. There were moderate positive associations between the total score and global measures of care coordination (r = 0.57) and quality of care (r = 0.53).
The instrument developed in this study demonstrated consistency and robust psychometric properties. It may provide a useful tool to measure patients' experience of cancer care coordination in future surveys and intervention studies.
PMCID: PMC3151230  PMID: 21756360
cancer; coordination of cancer care; questionnaire; psychometrics
18.  Weight and pregnancy 
BMJ : British Medical Journal  2007;335(7612):169.
Women who maintain a normal healthy weight, before, during, and after pregnancy have better outcomes
PMCID: PMC1934487  PMID: 17656509
19.  What are the current barriers to effective cancer care coordination? A qualitative study 
National cancer policies identify the improvement of care coordination as a priority to improve the delivery of health services for people with cancer. Identification of the current barriers to effective cancer care coordination is needed to drive service improvement.
A qualitative study was undertaken in which semi-structured individual interviews and focus groups were conducted with those best placed to identify issues; patients who had been treated for a range of cancers and their carers as well as health professionals involved in providing cancer care. Data collection continued until saturation of concepts was reached. A grounded theory influenced approach was used to explore the participants' experiences and views of cancer care coordination.
Overall, 20 patients, four carers and 29 health professionals participated. Barriers to cancer care coordination related to six aspects of care namely, recognising health professional roles and responsibilities, implementing comprehensive multidisciplinary team meetings, transitioning of care: falling through the cracks, inadequate communication between specialist and primary care, inequitable access to health services and managing scarce resources.
This study has identified a number of barriers to coordination of cancer care. Development and evaluation of interventions based on these findings is now required.
PMCID: PMC2891740  PMID: 20482884
20.  A randomised control trial of low glycaemic index carbohydrate diet versus no dietary intervention in the prevention of recurrence of macrosomia 
Maternal weight and maternal weight gain during pregnancy exert a significant influence on infant birth weight and the incidence of macrosomia. Fetal macrosomia is associated with an increase in both adverse obstetric and neonatal outcome, and also confers a future risk of childhood obesity. Studies have shown that a low glycaemic diet is associated with lower birth weights, however these studies have been small and not randomised [1,2]. Fetal macrosomia recurs in a second pregnancy in one third of women, and maternal weight influences this recurrence risk [3].
We propose a randomised control trial of low glycaemic index carbohydrate diet vs. no dietary intervention in the prevention of recurrence of fetal macrosomia.
Secundigravid women whose first baby was macrosomic, defined as a birth weight greater than 4000 g will be recruited at their first antenatal visit.
Patients will be randomised into two arms, a control arm which will receive no dietary intervention and a diet arm which will be commenced on a low glycaemic index diet.
The primary outcome measure will be the mean birth weight centiles and ponderal indices in each group.
Altering the source of maternal dietary carbohydrate may prove to be valuable in the management of pregnancies where there has been a history of fetal macrosomia. Fetal macrosomia recurs in a second pregnancy in one third of women. This randomised control trial will investigate whether or not a low glycaemic index diet can affect this recurrence risk.
Current Controlled Trials Registration Number
PMCID: PMC2876071  PMID: 20416041
Human mutation  2008;29(12):1435-1442.
Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of hydroxylation of a single proline residue at position 986 of both the triple-helical domains of type I collagen α1(I) and type II collagen α1(II) chains has been implicated in the pathogenesis of recessive forms of OI. Two proteins, CRTAP, or cartilage-associated protein, and prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene) form a complex that performs the hydroxylation and brings the prolyl cis-trans isomerase cyclophilin-B (CYPB) to the unfolded collagen. In our screen of 78 subjects diagnosed with OI type II or III, we identified three probands with mutations in CRTAP and sixteen with mutations in LEPRE1. The latter group includes a mutation in patients from the Irish Traveller population, a genetically isolated community with increased incidence of OI. The clinical features resulting from CRTAP or LEPRE1 loss of function mutations were difficult to distinguish at birth. Infants in both groups had multiple fractures, decreased bone modeling (affecting especially the femurs), and extremely low bone mineral density. Interestingly, “popcorn” epiphyses may reflect underlying cartilaginous and bone dysplasia in this form of OI. These results expand the range of CRTAP/LEPRE1 mutations that result in recessive OI and emphasize the importance of distinguishing recurrence of severe OI of recessive inheritance from those that result from parental germline mosaicism for COL1A1 or COL1A2 mutations.
PMCID: PMC2671575  PMID: 18566967
Osteogenesis Imperfecta; Prolyl 3-Hydroxylation; CRTAP; LEPRE1
22.  Low glycaemic index diet in pregnancy to prevent macrosomia (ROLO study): randomised control trial 
Objective To determine if a low glycaemic index diet in pregnancy could reduce the incidence of macrosomia in an at risk group.
Design Randomised controlled trial.
Setting Maternity hospital in Dublin, Ireland.
Participants 800 women without diabetes, all in their second pregnancy between January 2007 to January 2011, having previously delivered an infant weighing greater than 4 kg.
Intervention Women were randomised to receive no dietary intervention or start on a low glycaemic index diet from early pregnancy.
Main outcomes The primary outcome measure was difference in birth weight. The secondary outcome measure was difference in gestational weight gain.
Results No significant difference was seen between the two groups in absolute birth weight, birthweight centile, or ponderal index. Significantly less gestational weight gain occurred in women in the intervention arm (12.2 v 13.7 kg; mean difference −1.3, 95% confidence interval −2.4 to −0.2; P=0.01). The rate of glucose intolerance was also lower in the intervention arm: 21% (67/320) compared with 28% (100/352) of controls had a fasting glucose of 5.1 mmol/L or greater or a 1 hour glucose challenge test result of greater than 7.8 mmol/L (P=0.02).
Conclusion A low glycaemic index diet in pregnancy did not reduce the incidence of large for gestational age infants in a group at risk of fetal macrosomia. It did, however, have a significant positive effect on gestational weight gain and maternal glucose intolerance.
Trial registration Current Controlled Trials ISRCTN54392969.
PMCID: PMC3431285  PMID: 22936795

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