bluuebunny/crossref_metadata_2025_split huggingface dataset:
Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes
Authors: Pfarr Nicole , Borck Guntram , Turk Andrew , Napiontek Ulrike , Keilmann Annerose , Müller-Forell Wibke , Kopp Peter , Pohlenz Joachim 
Published: May 2006

Abstract
Context: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features. Whereas the hallmark of PS is sensorineural deafness, other forms of congenital hypothyroidism may also lead to hearing impairment. Therefore, a definite diagnosis may be difficult and require molecular genetic analyses.
Case Report: The propositus presented at birth with primary hypothyroidism and goiter. He also had congenital bilateral moderate hearing loss, and PS was suspected.
Methods: We sequenced the SLC26A4/PDS and TPO genes in the propositus and tested familial segregation of mutations in all available family members who were phenotypically normal. The functional consequences of the identified pendrin mutation (p.R776C) were studied in vitro.
Results: Sequencing of the SLC26A4/PDS gene revealed a single monoallelic missense mutation in the propositus (p.R776C). This mutation, which was inherited from his unaffected mother, has previously been identified in an individual with deafness and an enlarged vestibular aqueduct. Sequencing of the TPO gene revealed compound heterozygosity for a novel nonsense mutation (p.Q235X) and a known missense mutation (p.Y453D). The mutant pendrin (p.R776C) retained its ability to transport iodide in vitro.
Conclusions: These results show that the propositus carries three sequence variants in two genes: a monoallelic SLC26A4/PDS sequence variant and compound heterozygous TPO mutations. Our study illustrates that if only a single heterozygous SLC26A4/PDS mutation is found in a patient with goiter and deafness, other genetic explanations should be considered.
Patterns of treatment and resource utilization in the treatment of external genital warts in England and Wales
Authors: Langley Paul C , White David J , Drake Susan M 
Published: May 2006

Our objective was to identify patterns of treatment and resources used in achieving complete clearance of external genital warts (EGWs) A retrospective case note review was carried out at six genitourinary medicine (GUM) clinics in the UK. Case notes from 2366 patients presenting with EGWs were reviewed and 1200 patients with complete episodes of care were identified. Analysis showed that staff-applied therapy dominated treatment practice but there was considerable diversity in treatment modalities across study sites. The average number of visits was 5.71 visits for males: 6.25 visits for females but a substantial minority of patients attended significantly in excess of these averages. Approximately two-thirds of patients failed to achieve complete clearance of warts with their initial therapy. There is little consistency in treatment patterns of care for EGWs across the sites studied. Initial therapy choices are largely ineffective, requiring changes in treatment modality and multiple clinic visits. Increased utilization of patient-applied therapies might result in increased cost effectiveness.
Changing pattern of HIV infection in a tertiary care hospital in New Delhi, India
Authors: Ray Krishna 
Published: May 2006

HIV seroprevalence was carried out in 42,738 individuals attending the STD Centre of a New Delhi hospital from September 1990 to December 2001. The different epidemiological parameters of the patients in Group 1 (asymptomatic HIV-seropositive individuals) and Group 2 (AIDS cases), were compared in four spans A, B, C, D. Significant rise in seroprevalence from 0.4% to 4.4% was observed with time. The patients in Group 1 were mainly 15–19 years followed by 30–44 years age group. Overall, the Male:Female ratio in Groups 1 and 2 were 3:1 and 6:1, respectively. The transmission was predominantly heterosexual in both the groups. The patients with sexually transmitted infections (STIs) emerged as the most prominent category in Group 1, showing a steady rising trend till 1999 and stabilizing thereafter. Ulcerative STIs, mainly syphilis, showed maximum association. In most of the cases, the infection was acquired by promiscuous males from female commercial sex workers or casual acquaintances and further transmitted to their spouses. Tuberculosis was the most common opportunistic infection. However, patients presented with fever, loss of weight and diarrhoea in increasing number during time D. The present study reiterates the importance of early management of STI patients and counselling of high risk groups, early partner notification and routine antenatal HIV check-up in the prevention and control of HIV/AIDS infection in third world countries like India.
Partner notification: preferences of Melbourne clients and the estimated proportion of sexual partners they can contact
Authors: Tomnay J E , Pitts M K , Fairley C K 
Published: May 2006

This study was conducted to determine the estimated proportion of contactable sexual partners, the most common types of contact information available and the most acceptable contact tracing strategies for our clients. Five hundred 'walk in' clients completed a questionnaire about their total number of sexual partners, the proportion of contactable partners and available contact information. Women had the highest estimated number of contactable partners (89-94%), men who have sex with men had the lowest (51-73%). The preferred contact tracing strategy was to give partners a website address (76%) and the least preferred was provider referral (33%). There was a difference in the type of information available for contacting sexual partners ( P <0.001); most commonly clients reported partners contactable by phone or face to face and least commonly through a third person. The currently used method (doctor's letter) is not the preferred choice of these clients and more innovative methods using recent technology may prove more effective.
Rash with Both Clopidogrel and Ticlopidine in Two Patients Following Percutaneous Coronary Intervention with Drug-Eluting Stents
Authors: Makkar Kathy , Wilensky Robert L , Julien Maureen Burke , Herrmann Howard C , Spinler Sarah A 
Published: May 2006

Objective: To describe 2 cases of rash that occurred following oral administration of both clopidogrel and ticlopidine and to review previously published case reports. Case Summary: Two patients developed maculopapular pruritic rashes that began on the abdomen and spread to the back, neck, and face following clopidogrel administration after placement of a drug-eluting intracoronary stent. Following recurrence of the rash after ticlopidine was initiated, thienopyridines were discontinued, and the patients were treated for 3–6 months with aspirin, cilostazol, and enoxaparin or warfarin for prevention of stent thrombosis and reinfarction. One patient self-discontinued cilostazol, reinitiated clopidogrel, and redeveloped a rash. Discussion: While there have been several published cases of thienopyridine-associated rash, there have been only 2 reported cases of cross-sensitivity between orally administered clopidogrel and ticlopidine. Preliminary reports suggest that clopidogrel desensitization may be accomplished in selected patients several months to years following thienopyridine rash using an allergy desensitization protocol, with close monitoring for anaphylaxis. An objective causality assessment using the Naranjo probability scale indicated that both ticlopidine and clopidogrel were probable causes of the rash in the first patient; in the second patient, clopidogrel was judged a definite cause and ticlopidine was a probable cause of the rash. Conclusions: In a patient who develops a rash following clopidogrel treatment after intracoronary stent placement, ticlopidine therapy should be attempted, provided the initial reaction did not include life-threatening symptoms. In a patient who experiences rash with both clopidogrel and ticlopidine and does not have a contraindication to cilostazol or anticoagulation, therapy with aspirin, cilostazol, and either enoxaparin or warfarin may be administered for 2–6 months following placement of a drug-eluting stent.
Consumption of Both Resistant Starch and β-Glucan Improves Postprandial Plasma Glucose and Insulin in Women
Authors: Behall Kay M. , Scholfield Daniel J. , Hallfrisch Judith G. , Liljeberg-Elmståhl Helena G.M. 
Published: May 2006

OBJECTIVE—Consumption of a meal high in resistant starch or soluble fiber (β-glucan) decreases peak insulin and glucose concentrations and areas under the curve (AUCs). The objective was to determine whether the effects of soluble fiber and resistant starch on glycemic variables are additive.
RESEARCH DESIGN AND METHODS—Ten normal-weight (43.5 years of age, BMI 22.0 kg/m2) and 10 overweight women (43.3 years of age, BMI 30.4 kg/m2) consumed 10 tolerance meals in a Latin square design. Meals (1 g carbohydrate/kg body wt) were glucose alone or muffins made with different levels of soluble fiber (0.26, 0.68, or 2.3 g β-glucan/100 g muffin) and three levels of resistant starch (0.71, 2.57, or 5.06 g/100 g muffin).
RESULTS—Overweight subjects had plasma insulin concentrations higher than those of normal-weight subjects but maintained similar plasma glucose levels. Compared with low β-glucan–low resistant starch muffins, glucose and insulin AUC decreased when β-glucan (17 and 33%, respectively) or resistant starch (24 and 38%, respectively) content was increased. The greatest AUC reduction occurred after meals containing both high β-glucan–high resistant starch (33 and 59% lower AUC for glucose and insulin, respectively). Overweight women were somewhat more insulin resistant than control women.
CONCLUSIONS—Soluble fiber appears to have a greater effect on postprandial insulin response while glucose reduction is greater after resistant starch from high-amylose cornstarch. The reduction in glycemic response was enhanced by combining resistant starch and soluble fiber. Consumption of foods containing moderate amounts of these fibers may improve glucose metabolism in both normal and overweight women.
Diet of Adolescents With and Without Diabetes
Authors: Helgeson Vicki S. , Viccaro Laura , Becker Dorothy , Escobar Oscar , Siminerio Linda 
Published: May 2006

OBJECTIVE—To compare the dietary intake of adolescents with type 1 diabetes with that of adolescents without diabetes matched on age, sex, and year in school and to compare the diets of both groups with recommendations.
RESEARCH DESIGN AND METHODS—Participants were 132 adolescents with type 1 diabetes, recruited from Children’s Hospital of Pittsburgh, and 131 adolescents without diabetes ranging in age from 10.70 to 14.21 years. Dietary intake was assessed with three 24-h recall interviews with each participant and one parent. Percentage of calories from protein, carbohydrates, and total fat; amount of each type of fat; and amount of cholesterol, fiber, and sugar were calculated as averages across 3 days.
RESULTS—Adolescents with diabetes took in less total energy than recommended. The percentage of calories from carbohydrates and protein were within recommendations for adolescents with and without diabetes, but adolescents with diabetes exceeded the recommended fat intake. The diet of adolescents with diabetes consisted of a greater percentage of fat and protein and a smaller percentage of carbohydrates relative to adolescents without diabetes. Adolescents without diabetes consumed more sugar, while adolescents with diabetes took in more of all components of fat than adolescents without diabetes. Male subjects with diabetes had an especially high intake of saturated fat.
CONCLUSIONS—Adolescents with type 1 diabetes consume fewer calories from carbohydrates but more calories from fat than adolescents without diabetes and exceed the recommended levels of fat intake. These findings are of concern given the risk that type 1 diabetes poses for cardiovascular disease.
Sexual Function and Endocrine Profile in Fertile Women With Type 1 Diabetes
Authors: Salonia Andrea , Lanzi Roberto , Scavini Marina , Pontillo Marina , Gatti Elisa , Petrella Giovanna , Licata Giada , Nappi Rossella E. , Bosi Emanuele , Briganti Alberto , Rigatti Patrizio , Montorsi Francesco 
Published: May 2006

OBJECTIVE—Aims of this study were 1) to assess sexual function and endocrine profile among fertile type 1 diabetic women during the follicular and luteal phases of the menstrual cycle, 2) to compare these results with those obtained among healthy fertile women who served as control subjects, and 3) to explore the correlations between sexual function and endocrine milieu among patients and control subjects during the follicular and luteal phases of the menstrual cycle.
RESEARCH DESIGN AND METHODS—Fifty fertile women with type 1 diabetes and 47 healthy control subjects completed a semistructured medical interview and filled in self-administered validated instruments to evaluate sexual function, depression, and sexual distress. Venous blood samples were drawn to measure glycated hemoglobin and an endocrine profile during either the follicular or the luteal phase of the menstrual cycle.
RESULTS—Type 1 diabetic women had decreased sexual function and increased sexual distress compared with control subjects during the luteal, but not the follicular, phase of the menstrual cycle. During the follicular phase, patients had lower estrogenic basal tone, lower “weak” androgen (namely Δ4-androstenedione and dehydroepiandrosterone sulfate) production, and lower free-triiodothyronine and free-thyroxine levels compared with control subjects. During the luteal phase, total testosterone levels were higher in patients than control subjects, while 17β-estradiol and progesterone levels were lower in patients than control subjects.
CONCLUSIONS—Among type 1 diabetic women, sexual function and sexual distress vary according to the phase of the menstrual cycle. This finding may have implications on the clinical assessment of sexual function in type 1 diabetic women.
Understanding Exercise Beliefs and Behaviors in Women With Gestational Diabetes Mellitus
Authors: Symons Downs Danielle , Ulbrecht Jan S. 
Published: May 2006

OBJECTIVE—The purpose of this study was to examine the exercise beliefs and behaviors of postpartum women who had gestational diabetes mellitus (GDM) during a recent pregnancy.
RESEARCH DESIGN AND METHODS—Postpartum women with GDM (n = 28) completed a mail survey assessing their self-reported exercise beliefs (advantages, barriers, and important social influences) and behaviors.
RESULTS—We found that 1) the strongest perceived advantage of exercise during pregnancy was controlling blood glucose and postpartum it was controlling weight, 2) the most common barrier to exercise during pregnancy was fatigue and postpartum it was a lack of time, 3) women’s husband/partner most strongly influenced their exercise during pregnancy and postpartum, 4) women exercised more during the postpartum period than before or during pregnancy, and 5) the number of exercise advantages was positively associated with women’s pregnancy and postpartum exercise behavior.
CONCLUSIONS—To increase exercise behavior and reduce the risk of type 2 diabetes in women with GDM, researchers and health care professionals are encouraged to use women’s exercise beliefs, that is, advantages, social influences, and perceived barriers to exercise, as a framework for designing effective diabetes treatment and prevention programs.
Middle-Aged Premenopausal Women With Type 1 Diabetes Have Lower Bone Mineral Density and Calcaneal Quantitative Ultrasound Than Nondiabetic Women
Authors: Strotmeyer Elsa S. , Cauley Jane A. , Orchard Trevor J. , Steenkiste Ann R. , Dorman Janice S. 
Published: May 2006

OBJECTIVE—To determine whether middle-aged premenopausal women with type 1 diabetes had more self-reported fractures and lower bone mineral density (BMD) compared with nondiabetic women.
RESEARCH DESIGN AND METHODS—Participants were premenopausal women aged 35–55 years with type 1 diabetes (n = 67; 32.2 ± 5.3 years duration) and without diabetes (n = 237). Total hip, femoral neck, whole-body, and spine BMD were measured by dual X-ray absorptiometry. Calcaneal broadband ultrasound attenuation (BUA) was assessed with quantitative ultrasound.
RESULTS—Women with type 1 diabetes were more likely to report a fracture after age 20 years compared with nondiabetic women (33.3 vs. 22.6%; age-adjusted odds ratio 1.89 [95% CI 1.02–3.49]). Type 1 diabetes was associated with lower total hip BMD (0.890 vs. 0.961 g/cm2; P &lt; 0.001), femoral neck BMD (0.797 vs. 0.847 g/cm2; P = 0.001), whole-body BMD (1.132 vs. 1.165 g/cm2; P &lt; 0.01), and lower calcaneal BUA (71.6 vs. 84.9 dB/MHz; P &lt; 0.001) after multivariate adjustment. BMD was 3–8% lower in type 1 diabetic compared with control women and calcaneal BUA was 15% lower. Spine BMD and biomarkers of bone remodeling were not significantly different between groups. In the type 1 diabetic women, reduced monofilament detection and blindness were both associated with lower BMD.
CONCLUSIONS—Lower BMD in premenopausal women with type 1 diabetes may substantially increase their risk of developing osteoporosis after menopause. Type 1 diabetic women should be targeted for osteoporosis screening and possible fracture prevention as they transition through menopause.
Association of Systemic Concentrations of Macrophage Migration Inhibitory Factor With Impaired Glucose Tolerance and Type 2 Diabetes
Authors: Herder Christian , Kolb Hubert , Koenig Wolfgang , Haastert Burkhard , Müller-Scholze Sylvia , Rathmann Wolfgang , Holle Rolf , Thorand Barbara , Wichmann H.-Erich 
Published: May 2006

OBJECTIVE—Macrophage migration inhibitory factor (MIF) is a central cytokine in innate immunity. MIF expression can be regulated by glucose and insulin, but data on the association with type 2 diabetes are sparse. The aim of this study was to test whether MIF is associated with impaired glucose tolerance (IGT) and type 2 diabetes and whether these associations are independent of metabolic and immunological risk factors and to compare the associations of MIF and IGT/type 2 diabetes with those of C-reactive protein (CRP) and interleukin-6 (IL-6) with IGT/type 2 diabetes.
RESEARCH DESIGN AND METHODS—The Cooperative Health Research in the Region of Augsburg/Kooperative Gesundheitsforschung im Raum Augsburg, Survey 4 (KORA S4) is a population-based survey performed in Southern Germany (1999–2001). Of 1,653 participants aged 55–74 years, 236 patients with type 2 diabetes, 242 subjects with IGT, and 244 normoglycemic control subjects matched for age and sex were included in this cross-sectional study. Serum concentrations of MIF were measured by enzyme-linked immunosorbent assay.
RESULTS—Serum MIF concentrations are highly increased in individuals with IGT and type 2 diabetes. The associations of MIF with IGT and type 2 diabetes were independent of classical risk factors and of CRP and IL-6 and were much stronger before and after multivariate adjustment than the associations of CRP and IL-6 with IGT and type 2 diabetes.
CONCLUSIONS—Our data suggest that elevations of systemic MIF concentrations precede the onset of type 2 diabetes. This finding may be relevant because MIF has been reported to contribute to the development of type 2 diabetes–related diseases such as atherosclerosis and cancer.
Trends in Deliveries, Prenatal Care, and Obstetrical Complications in Women With Pregestational Diabetes
Authors: Feig Denice S. , Razzaq Asma , Sykora Kathy , Hux Jan E. , Anderson Geoff M. 
Published: May 2006

OBJECTIVE—To describe recent trends in the proportion of deliveries in women with pregestational diabetes (PGD), their use of services, and diabetes-related obstetrical complications.
RESEARCH DESIGN AND METHODS—In this population-based retrospective cohort study, comprehensive administrative data were used to identify all women (with and without PGD) who gave birth in an Ontario, Canada, hospital from 1996 to 2001. Data on maternal complications and interventions were obtained from hospital discharge records; data on use of prenatal services were obtained from fee-for-service claims.
RESULTS—The proportion of deliveries in women with PGD increased steadily from 0.8% in 1996 to 1.2% in 2001 (P &lt; 0.001). In 2001, women with PGD were more likely to be diagnosed with shoulder dystocia (adjusted odds ratio 2.00 [95% CI 1.55–2.58]), hypertension (4.13 [3.44–4.96]), and preeclampsia/eclampsia (4.44 [3.43–5.73]) and have higher rates of inductions (1.69 [1.52–1.88]) and caesarean sections (1.78 [1.60–1.98]) than women without PGD. In 2001, 50% of the women with PGD had a visit to a diabetes specialist during pregnancy and only 30% of women had claims for a prenatal retinal examination. Both of these rates have decreased over the study period.
CONCLUSIONS—Women with PGD now account for a larger proportion of deliveries. These women continue to have higher obstetrical complication and intervention rates than women without PGD and many do not receive recommended specialty care during pregnancy.
Cost-Effectiveness and Net Benefit of Enhanced Treatment of Depression for Older Adults With Diabetes and Depression
Authors: Katon Wayne , Unützer Jürgen , Fan Ming-Yu , Williams John W. , Schoenbaum Michael , Lin Elizabeth H.B. , Hunkeler Enid M. 
Published: May 2006

OBJECTIVE—To determine the incremental cost-effectiveness and net benefit of a depression collaborative care program compared with usual care for patients with diabetes and depression.RESEARCH DESIGN AND METHODS—This article describes a preplanned subgroup analysis of patients with diabetes from the Improving Mood-Promoting Access to Collaborative (IMPACT) randomized controlled trial. The setting for the study included 18 primary care clinics from eight health care organizations in five states. A total of 418 of 1,801 patients randomized to the IMPACT intervention (n = 204) versus usual care (n = 214) had coexisting diabetes. A depression care manager offered education, behavioral activation, and a choice of problem-solving treatment or support of antidepressant management by the primary care physician. The main outcomes were incremental cost-effectiveness and net benefit of the program compared with usual care.RESULTS—Relative to usual care, intervention patients experienced 115 (95% CI 72–159) more depression-free days over 24 months. Total outpatient costs were $25 (95% CI −1,638 to 1,689) higher during this same period. The incremental cost per depression-free day was 25 cents (−$14 to $15) and the incremental cost per quality-adjusted life year ranged from $198 (144–316) to $397 (287–641). An incremental net benefit of $1,129 (692–1,572) was found.CONCLUSIONS—The IMPACT intervention is a high-value investment for older adults with diabetes; it is associated with high clinical benefits at no greater cost than usual care.