Higher Incidence Of Family History Research Articles

Inheritance analysis and family history for microtia: A hospital-based study in China.

Microtia is a congenital anomaly of the outer ear. Although genetic and environmental factors could play a role, no consensus has been established on the pathogenesis and cause of this condition. In this study, we surveyed the frequency and pattern of family history in patients with microtia in a Chinese specialty clinic population. We evaluated data from 672 patients (mean age=9.2, male-to-female ratio=2.6:1) with microtia admitted to the Department of Auricular Reconstruction at the Plastic Surgery Hospital of Peking Union Medical College from December 2014 to February 2016. Family history of congenital ear anomalies across three generations was recorded. Pearson chi-square test or Fisher exact test was used to test the associations between the characteristics of microtia and hereditary features. A family history of auricle anomalies was identified in 202 patients (30.1%), of whom, 95 families showed vertical transmission, 14 families skipped a generation, and 120 families showed family aggregations. The incidence of family history varied with grades of microtia (P=0.001). Patients with preauricular tags or pits (38.3%) had a higher familial incidence of microtia than those with simple microtia (24.1%) (P<0.001). Patients with a lower grade of microtia demonstrated a higher incidence of family history. Patients with microtia had significantly more relatives with preauricular tags or pits. Microtia and preauricular tags or pits are different manifestations of the same defect, and their significant concurrency among relatives suggests that a considerable proportion of microtia is inherited and could recur with varying degrees of severity in other family members.

Using the Caprini Risk Score to Increase Awareness of Venous Thrombus Embolism in the Community: Know Your Score II.

To assess individual participants' baseline thrombosis risk calculated by Caprini Risk Score (CRS) before injury, illness, or hospitalization occur, to increase the awareness of venous thromboembolism (VTE) by viewing 2 short videos. A cross-sectional study was conducted online between August 2022 and January 2023 in the USA, UK, and India to assess the risk of thrombosis of individuals as a baseline. One nursing practitioner and 4 high school students were on the research team. Descriptive statistical methods were used in data analysis. A total of 928 usable completed questionnaires from 945 participants were analyzed. The mean CRS was 4.93 ± 3.175; 0 to 4 (N = 460, 49.6%), 5 to 8 (N = 394, 42.5%), and 9 (N = 74: 8.0%). History of blood clots (N = 247, 26.6%), <40 years old (N = 133, 52.6%); women on oral contraceptives (N = 324, 34.9%), history of smoking (30%), diabetes (26%), and inflammatory bowel disease (IBD; 17.3%). Top-level findings: High incidence of family history of thrombosis (26.6%), smoking, diabetes, contraceptives, and IBD. The average CRS (7.9) in patients over 75 years indicates that even a minor surgical procedure may be associated with significant VTE risk. We achieved an important goal by increasing awareness of VTE using this unique method involving high school students and a nurse working with friends and families to complete the CRS assessment. Encouraging the respondents to share information with their personal physicians prior to the event and keep these data in their medical file is a potential valuable source of saving time. This study emphasizes the importance of individuals collecting baseline information prior to illness or hospitalization.

Epidemiology of Endometriosis in Tamil Nadu, India

Endometriosis is an enigmatic disease of women of the reproductive age group. Pain and infertility are the main symptoms. This paper attempts to study the incidence of endometriosis among infertility patients undergoing laparoscopy. Following parameters such as age, SE status, body mass index (BMI), type of infertility, parity, symptoms, family history, menstrual history, medical history, ultrasound (USG) findings, stages of endometriosis, associated findings, and laparoscopy findings were analyzed. Incidence of endometriosis was higher between 26 and 35 years and at all ages stage 3 and stage 4 endometriosis were higher than stage 1 and stage 2. Endometriosis is more common in higher socio-economic class and in women with lower BMI and primary infertility. Among all the symptoms of endometriosis, dysmenorrhea is the most common and most important pointer towards the diagnosis of endometriosis. There is also higher incidence of family history among endometriosis patients. Menstrual cycles are invariably regular. Diagnosis of endometriosis is mainly through USG and rarely magnetic resonance imaging is performed to confirm the presence of endometriosis. In early stages of endometriosis, USG may not show any positive findings. USG can pick up endometriomas, deep infiltrative endometriosis, adenomyosis, and associated findings such as polycystic ovary syndrome, fibroids, and Mullerian anomalies. Laparoscopy is the gold standard in the diagnosis and treatment of endometriosis. Staging is done based on laparoscopy and simultaneously treatment is also carried out. Stage 1 and 2 patients underwent cauterization of the lesions. Advanced stages of endometriosis underwent cystectomy, adhesiolysis, and excision of the deep lesions and ultimately the pelvic anatomy is regained. Women were planned for further fertility treatment based on the staging of the disease.

ATM Germline Variant Increases the Risk of MPN Progression

Introduction: Chronic myeloproliferative neoplasms (MPN) share the same driver mutations but their disease course and prognosis varies significantly. Deficiency of DNA damage repair (DDR) due to germline mutation is known to predispose to certain cancer types and has been implicated in the biology of MPN. The aim of our study was to evaluate the impact of germline variants in DDR genes in the natural history and outcomes of MPN patients. Patients and Methods: 76 individuals who were diagnosed with MPN (essential thrombocytosis (ET), polycythemia vera (PV) and primary myelofibrosis (PMF)) at Johns Hopkins University Hospital were included in this study. Targeted sequencing of 63 genes implicated in myeloid malignancies was performed as part of a standard clinical evaluation. Germline variants were determined by a variant allele frequency between 40-60% in blood samples and presence in the dbSNP database. Only rare variants (minor allele frequency &amp;lt; 0.01) were included in this analysis. Regression analysis was used to determine the association of the presence of germline variants with disease phenotype, driver mutation, number of somatic mutations, age and sex. Cox regression and Kaplan-Meier were used to assess the implication of germline variants in the progression to MF. Results: Median time from diagnosis to enrollment and follow up were 6 and 11 years respectively. 22 patients (28.9%) had at least one variant in a DDR gene, with ATM the most frequent (11/76 patients, 14.5%). Other recurrently mutated DDR genes included RECQL4 (6/76 patients, 7.9%), ATRX and RAD50 (Figure 1A). Patients with an ATM germline variant had higher incidence of a second malignancy (OR 4.37, 95% CI 1.16 - 16.46, P=0.029), a non-significant trend toward positive family history of malignancy (OR 3.75, 95% CI 0.91 - 15.46, P=0.067) and higher incidence of both second malignancy and positive family history of cancer (OR 4.58, 95% CI 1.17 - 17.94, P=0.029) (Figure 1B). The presence of an ATM germline variant was associated with MF or AML as opposed to ET or PV at the time of sequencing (RRR 5.84, 95% CI 1.12 - 30.34, P=0.036) independently of driver mutation, number of additional somatic mutations, age and male sex (Figure 1C). We did not find a significant difference in the number of somatic mutations between patients with and without ATM variant, however there was a trend toward increased chromosomal abnormalities among patients with ATM variant (Figure 1D). Finally, the presence of ATM variant was associated with higher risk of MF transformation (HR 3.43, 95% CI 1.02 - 11.6, P=0.047) independently of driver mutation (JAK2 Ref, CALR - HR 0.79, 95% CI 0.21 - 2.94, P=0.73) and male sex (HR 1.4, 95% CI 0.52 - 3.76, P=0.68). Kaplan-Meier analysis confirmed that progression to MF-free survival was shorter in patients harboring an ATM variant (P=0.01) (Figure 1E). Conclusion: The presence of a DDR gene germline variant, particularly ATM, is relatively common among patients with MPN. Patients with ATM variants had higher incidence of additional cancers and family history of malignancy, as well as an association with MF/AML phenotype and early transformation to MF. These data suggest involvement of ATM signaling in the progression of MPN, potentially via accumulation of DNA damage and genomic instability. Figure 1. A. Frequency of germline variants in MPN patients. The graph includes the gene variants identified in at least 2 distinct patients. Of known DDR related genes (in red) ATM is the most frequent (11/76 patients, 14.5%), followed by RECQL4 (6/76 patients, 7.9%) and ATRX and RAD50. B. Personal and family history of cancer among patients with and without ATM variant. Patients with ATM germline variant have higher incidence of additional malignancy (OR 4.37, 95% CI 1.16 - 16.46, P=0.029), higher incidence of family history of malignancy (OR 3.75, 95% CI 0.91 - 15.46, P=0.067) and higher incidence of concurrent personal history of malignancy and family history of malignancy (OR 4.58, 95% CI 1.17 - 17.94, P=0.029). C. MPN subtype per ATM variant status. Patients with an ATM germline variant were more likely to have MF or AML at the time of sequencing independent of driver mutation, number of somatic mutations, age and sex. D. Patients with an ATM variant had higher number of chromosomal abnormalities. E. Kaplan-Meier analysis of progression to MF free survival(P=0.01). Disclosures Chaturvedi: Shire/Takeda: Research Funding; Alexion: Consultancy; Sanofi: Consultancy.

Prevalence, Biochemical and Clinical Characteristics of Resistant Hypertension

The objectives of the present study were to evaluate the prevalence of resistant hypertension (RH) in primary care setting and to analyse its biochemical and clinical characteristics. After 3 months of treatment and evaluation, 721 (14.01%) of 5,146 patients with hypertension did not reach target office blood pressure of [ 140/90 mmHg. After exclusion of �white-coat effect� with ambulatory blood pressure, of secondary and pseudo- resistant hypertension, prevalence of RH was 6.74%. Lifestyle factors associated with RH were physical inactivity, obesity, high salt intake, smoking and excessive alcohol ingestion. Compared to controlled hypertension, RH patients presented higher incidence of family history of cardiovascular disease (38.90% vs 25.94%), diabetes mellitus (34.87% vs 19.01%), impaired fasting glucose (21.91% vs 19.07%), target organ damage (29.1% vs 15.95%), and cardiovascular disease (27.09% vs 17.06%). Dyslipidaemia (52.90% vs 42.03%), fasting plasma glucose (116.10�38.9 vs 107.80�37.2), HbA1c (6.41�1.42 vs 5.96�0.94), serum creatinine (1.09�0.27 vs 1.03�0.24) and microalbuminuria (21.90% vs 10.95%) were significantly higher in RH. Predictors of RH, determined by a multivariate logistic regression analysis were left ventricular hypertrophy (OD 2.14, 95% CI 1.32-3.69), renal impairment expressed as eGFR [ 60 ml/min/1.73m2 (OD 1.62, 95% CI 1.21-2.21) and the presence of cardiovascular disease (OD 1.48, 95% CI 1.02-2.16).

Profile of patients with Brugada syndrome presenting with their first documented arrhythmic event: Data from the Survey on Arrhythmic Events in BRUgada Syndrome (SABRUS)

Detailed information on the profile of patients with Brugada syndrome (BrS) presenting their first arrhythmic event (AE) after prophylactic implantation of an implantable cardioverter-defibrillator (ICD) is limited. The objectives of this study were (1) to compare clinical, electrocardiographic, electrophysiologic, and genetic profiles of patients who exhibited their first documented AE as aborted cardiac arrest (group A) with profiles of those in whom the AE was documented after prophylactic ICD implantation (group B) and (2) to characterize group B patients' profile using the class II indications for ICD implantation established by HRS/EHRA/APHRS expert consensus statement in2013. A survey of 23 centers from 10 Western and 4 Asian countries enabled data collection of 678 patients with BrS who exhibited their AE (group A, n = 426; group B, n = 252). The first AE occurred in group B patients 6.7 years later than in group A (mean age 46.1 ± 13.3 years vs 39.4 ± 15.1 years; P < .001). Group B patients had a higher incidence of family history of sudden cardiac death and SCN5A mutations. Of the 252 group B patients, 189 (75%) complied with the HRS/EHRA/APHRS indications whereas the remaining 63 (25%) did not. Patients with BrS with the first AE documented after prophylactic ICD implantation exhibited their AE at a later age with a higher incidence of positive family history of sudden cardiac death and SCN5A mutations as compared with those presenting with aborted cardiac arrest. Only 75% of patients who exhibited an AE after receiving a prophylactic ICD complied with the 2013 class II indications, suggesting that efforts are still required for improving risk stratification.

Clinical Implications of Immunoglobulin G4 to Graves' Ophthalmopathy.

This study aimed to explore the relation of immunoglobulin G4 (IgG4) to clinical and laboratory characteristics of patients newly diagnosed with Graves' disease (GD) without or with Graves' ophthalmopathy (GO) and to analyze association of IgG4 with development and grade of GO in GD patients. Sixty-four GD patients and 64 sex- and age-matched euthyroid subjects were enrolled. Serum levels of thyroid hormones, thyroid autoantibodies, immunoglobulin G (IgG), and IgG4 were measured, and ophthalmological and ultrasonographical evaluation was performed. In GD patients compared with euthyroid subjects, levels of thyroid hormones, thyroid autoantibodies and IgG4 as well as the IgG4/IgG ratio were elevated. GD patients having GO in comparison to not having GO were characterized by a female predominance; a high incidence of smoking history; high levels of T3, free T4, TSH receptor autoantibody (TRAb) and IgG4; and a high IgG4/IgG ratio after adjusting for sex. In GD patients, the IgG4 level was the independent factor associated with GO development on multivariate analysis. When severity and activity of GO were classified using the European Group on Graves' Orbitopathy criteria in GD patients with GO, IgG4 levels and IgG4/IgG ratio were elevated in the moderate-to-severe group compared with the mild group and in the active group compared with the inactive group. IgG4 levels and IgG4/IgG ratio became elevated as clinical activity score increased. IgG4 levels were positively correlated with TRAb levels. The high IgG4 group in comparison to the normal IgG4 group had a high incidence of family history of autoimmune thyroid disease, high levels of free T4, TRAb and IgG4, a high IgG4/IgG ratio and extensive hypoechogenicity. These results suggest that IgG4 levels are elevated in newly diagnosed GD patients compared with euthyroid subjects and in the presence of GO compared with the absence of GO. Moreover, our findings suggest that IgG4 levels are associated with the development and grade of GO in GD patients.

The course of diabetes in children, adolescents and young adults: does the autoimmunity status matter?

BackgroundInitial classification of diabetes of young may require revision to improve diagnostic accuracy of different forms of diabetes.The aim of our study was to examine markers of beta-cell autoimmunity in a cohort of young (0–25 years) patients with type 1 diabetes and compare the presentation and course of the disease according to the presence of pancreatic antibodies.MethodsCross-sectional population-based study was performed covering 100% of pediatric (n = 860) and 70% of 18–25 years old adult patients (n = 349) with type 1 diabetes in Lithuania.ResultsNo antibodies (GAD65, IA-2, IAA and ICA) were found in 87 (7.5%) cases. Familial history of diabetes was more frequent in those with antibodies-negative diabetes (24.1 vs. 9.4%, p < 0.001). Gestational age, birth weight and age at diagnosis was similar in both groups. Ketosis at presentation was more frequent in patients with autoimmune diabetes (88.1 vs. 73.5%, p < 0.05). HbA1c at the moment of investigation was 8.6 (3) vs. 8.7 (2.2)% in antibodies-negative and antibodies-positive diabetes groups, respectively, p > 0.05. In the whole cohort, neuropathy was found in 8.8% and nephropathy - in 8.1% of cases, not depending on autoimmunity status. Adjusted for age at onset, disease duration and HbA1c, retinopathy was more frequent in antibodies-negative subjects (13.8 vs. 7.8%, p < 0.05).ConclusionAntibodies-negative pediatric and young adult patients with type 1 diabetes in this study had higher incidence of family history of diabetes, higher frequency of retinopathy, less frequent ketosis at presentation, but similar age at onset, HbA1c, incidence of nephropathy and neuropathy compared to antibodies-positive patients.

Epilepsies associated with hippocampal sclerosis.

Hippocampal sclerosis (HS) is considered the most frequent neuropathological finding in patients with mesial temporal lobe epilepsy (MTLE). Hippocampal specimens of pharmacoresistant MTLE patients that underwent epilepsy surgery for seizure control reveal the characteristic pattern of segmental neuronal cell loss and concomitant astrogliosis. However, classification issues of hippocampal lesion patterns have been a matter of intense debate. International consensus classification has only recently provided significant progress for comparisons of neurosurgical and clinic-pathological series between different centers. The respective four-tiered classification system of the International League Against Epilepsy subdivides HS into three types and includes a term of "gliosis only, no-HS". Future studies will be necessary to investigate whether each of these subtypes of HS may be related to different etiological factors or with postoperative memory and seizure outcome. Molecular studies have provided potential deeper insights into the pathogenesis of HS and MTLE on the basis of epilepsy-surgical hippocampal specimens and corresponding animal models. These include channelopathies, activation of NMDA receptors, and other conditions related to Ca(2+) influx into neurons, the imbalance of Ca(2+)-binding proteins, acquired channelopathies that increase neuronal excitability, paraneoplastic and non-paraneoplastic inflammatory events, and epigenetic regulation promoting or facilitating hippocampal epileptogenesis. Genetic predisposition for HS is clearly suggested by the high incidence of family history in patients with HS, and by familial MTLE with HS. So far, it is clear that HS is multifactorial and there is no individual pathogenic factor either necessary or sufficient to generate this intriguing histopathological condition. The obvious variety of pathogenetic combinations underlying HS may explain the multitude of clinical presentations, different responses to clinical and surgical treatment. We believe that the stratification of neuropathological patterns can help to characterize specific clinic-pathological entities and predict the postsurgical seizure control in an improved fashion.

Pedigree studies and evaluation of risk factors of breast cancer in Goa.

Incidence of breast cancer (BC) is increasing in most of the countries, including the areas which have had previously low rates. The aim of this prospective study was to analyze the pedigrees of the patients for detecting hereditary factor prevalence and to investigate the possible risk factors associated with BC in a sample population from Goa. A prospective analysis was performed for 95 BC patients between 2011 and 2012. For assessing the risk factors, a proforma was designed and the necessary data was collected by interview. The process of collecting family history for drawing the pedigree included interviewing the informant. Online calculators of statistics were used for standard deviation at www.easycalculation.com and fishers test at www.graphpad.com. High frequency of BC was revealed in the sample population from Goa. This could be attributed to the changes in reproductive patterns, physical inactivity and obesity, or general increase in BC awareness. Factors which did not influence the frequency of BC in the sample population include parity, oral contraceptives, alcohol consumption, occupation, exercise, and nutritional supplement. High incidence of family history of 168/1000 individuals was observed in the present study. Proper management of BC is possible after assessment of cumulative risk of BC in females by a thorough study of both environmental and genetic factors. Cumulative risk can be greatly reduced by controlling the environmental risk.

Epidemiology of migraine in the She ethnic minority group in Fujian province, China

Objectives: We examined the prevalence and risk factors of migraine among the She population. The prevalence of migraine among She Chinese in Fujian province is high.Methods: This study is a cross-sectional survey. Subjects completed a questionnaire that collected demographic and clinical data related to migraine. Physical examination and clinical laboratory tests were performed. Data were analyzed by regression analysis.Results: Of the 5519 subjects enrolled, 2377 were male (43·1%) and 3142 female (56·9%). Of these, 581 (10·53%) experienced migraine annually, including 6·18% of males and 13·82% of females. Highest prevalence rate was among those aged 40–49 years (11·28%). The 141 (24·3%) subjects who had migraine with aura had higher incidence of family history of headache than those without aura (38·5% vs 19·9%, P < 0·0001).Conclusion: Female gender and insomnia are possible risk factors for migraine in the She population.

A descriptive epidemiologic study of cleft lip and palate in Spain

The purpose of this study was to investigate the distribution of different cleft patterns by sex, side of the cleft, and family history of clefts in a referral hospital in the south of Spain. One hundred twenty-three consecutive cleft lip subjects, with or without palates, attending the Stomatology Unit in the Virgen del Rocío University Hospital and in the Virgen Macarena University Hospital from October 2009 to May 2010 were studied. The unilateral complete cleft lip and palate (54.4%) was most frequently found, followed by the bilateral complete cleft lip and palate (16.3%). Male patients (60.97%) and the left side (41.46%) were the most affected. A positive family history was observed in 21.94% of subjects. The most frequent profile in the affected population was male with left unilateral complete cleft lip and palate. The high incidence of family history of cleft on the father's side prompts us to recommend further genetic research in this area.

Age-Related Differences of Risk Profile and Angiographic Findings in Patients with Coronary Heart Disease

Background: Coronary heart disease (CHD) is a major health problem which imposes a significant burden on health care systems because of high morbidity and mortality. Objectives: To compare the risk factors profile for coronary heart disease in young and old subjects. Methods: Total 100 patients (50 subjects less than 40 years of age and 50 subjects more than 40 years of age) with acute coronary syndrome or stable angina who were undergoing coronary angiogram in the Department of Cardiology, University Cardiac Center, Bangabandhu Sheikh Mujib Medical University Dhaka, from July 2006 to June 2008 were evaluated for the presence coronary artery disease risk factors e.g. hypertension, dyslipidemia and smoking. Results: The mean age of the study population in younger group was (33.0 ± 6.4) years and in older group (52.0±8.6). The male to female ratio in both groups was 4:1. Smokers were more in younger group (70.0% vs. 46.0%) (p = 0.032). Hypertension was less in the younger group (38.0% vs. 58.0%) (p = 0.045). Presence of diabetes was higher in the older age group (34.0% vs. 4.0%) (p = 0.001). Higher incidence of family history of coronary heart disease was in the younger age group. The total cholesterol was higher in older group (182.9 ± 33.1) vs. (171.1 ± 24.8 mg/dl) (p = 0.047). 68% of patients of older group and 38% of younger group had stenosis in left anterior descending artery (p = 0.003). The involvement of left circumflex and right coronary artery in older age group were higher (56% and 66% respectively) than those in younger group (36% and 40% respectively) (p = 0.045 and p = 0.009). Conclusion: Ischemic heart disease in younger adults < 40 years had different risk profile characteristics than older patients. Key words: Coronary heart disease; acute coronary syndrome; stable angina; risk factors. DOI: 10.3329/bsmmuj.v3i1.5508 BSMMU J 2010; 3(1): 13-17

Psoriasis of early and late onset: A clinical and epidemiologic study from Spain

Background: The existence of 2 distinct forms of psoriasis related to age at onset has been postulated. However, precise data regarding the clinical and epidemiologic characteristics of psoriasis depending on the age at onset are still lacking. Objective: The purpose of this study was to define the clinical and epidemiologic features of this disease in Spain and to compare patients with psoriasis of early and late onset. Methods: An observational, analytic, cross-sectional, multicenter study was carried out. From January 1999 to November 1999, 179 participating dermatologists completed a questionnaire detailing the clinical and epidemiologic features of the first 10 consecutive patients with psoriasis seen in their clinical practice. The sample distribution was proportional to the Spanish population. Both statistical and descriptive analyses were performed. Results: Available data were obtained from 1774 patients. The onset of the disease before 30 years of age was significantly associated with a higher incidence of family history of psoriasis, a more severe and extensive cutaneous involvement, and greater psychosocial impact. Guttate psoriasis, nail involvement, evidence of precipitating factors, and a recurrent clinical course were more frequent in this group of patients. Patients with psoriasis of late onset had a less severe clinical course and a more continuous evolution. Palmoplantar pustulosis was more frequent in this group of patients. No significant relationship was detected between the age at onset and development of joint involvement. Conclusion: Patients with early and late onset psoriasis often show different clinical and evolutionary features. From the analysis of our data, it seems that 2 different groups of patients with psoriasis related to age at onset can be defined. (J Am Acad Dermatol 2002;46:867-73.)

A survey of the polycystic ovary syndrome in the Greek island of Lesbos: hormonal and metabolic profile.

Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism, chronic anovulation, and oligomenorrhea (O/M). PCOS has variable clinical phenotypes, biochemical features, and metabolic abnormalities. To determine the prevalence of PCOS in the Greek population as well as the metabolic parameters, we performed a cross-sectional study of 192 women of reproductive age (17-45 yr), living on the Greek island of Lesbos. They were divided into 4 groups according to the presence of hirsutism (defined as a Ferriman-Gallwey score > or = 6) and O/M: group N (n = 108), regular menses and absence of hirsutism; group 1 (n = 56), regular menses and hirsutism; group 2 (n = 10), O/M and absence of hirsutism; and group 3 (n = 18), O/M and hirsutism. Body mass index, waist to hip ratio, and mean blood pressure did not differ among the studied groups. Hormonal profile was assessed by measuring free testosterone (FT). The prevalence of PCOS, defined by the presence of O/M and biochemical hyperandrogenism (FT > or = 95th percentile of the normal women), was estimated to be 6.77% (13 women of 192). Higher FT levels were observed in group 3 (O/M and hirsutism) compared with groups N (P < 0.00001) and 1 (P < 0.0001) and in groups 1 (hirsutism) and 2 (O/M) compared with group N (P < 0.0001 and P < 0.005, respectively). Sex hormone-binding globulin levels were lower in women with PCOS and in groups 1 and 3 than those in group N (P < 0.002, P < 0.02, and P < 0.002, respectively) independently of the body mass index. The metabolic profile was investigated by measurements of fasting glucose (FG), fasting insulin (FI), and estimation of the fasting glucose to insulin ratio (FG:I ratio). After covariance adjusted for the BMI, FI levels were higher in group 3 and in women with PCOS than in the normal (P < 0.005 and P < 0.002, respectively) and the hirsute (P < 0.05 and P < 0.02, respectively) women, whereas FG levels did not differ among the studied groups. The FG:I ratio was lower in group 3, group 1, and in women with PCOS than in normal women (P < 0.05). Finally, a high incidence of family history of diabetes mellitus (P = 0.001) and menstrual disorders (P = 0.01) was observed in women with PCOS, in contrast to the normal and hirsute women. In conclusion, PCOS appears to be a particularly common endocrine disorder in the Greek population under study (prevalence, 6.77%); furthermore, it is associated with certain metabolic abnormalities. These data also suggest that the severity of the fasting hyperinsulinemia is associated with the severity of the clinical phenotype of hyperandrogenism independently of obesity.

Recurrent vaginal candidiasis and allergic rhinitis: a common association.

In a recent series of studies, it has been shown that hypersensitivity is an important factor in recurrent vaginal candidiasis and several referring gynecologists have been asking for our support in the evaluation of women with regard to the possibility of local vaginal hypersensitivity. This study was instituted because, since the first anamnesis, a high incidence of perennial allergic rhinitis, as well as family allergies have been observed in these patients. To study the association between recurrent vaginal candidiasis and perennial allergic rhinitis, and to explore the allergic characteristics of the patients and of the disease. For 28 months, we have prospectively studied 95 patients with recurrent vaginal candidiasis referred by gynecologists to a private allergy practice. All of them were unresponsive to all other modalities of therapy, and had no diabetes or immunodeficiency diseases. As a control group, we studied 100 women, who came to the allergy office for other reasons, and had no recurrent vaginal candidiasis. All of these 195 women were submitted to a standard allergy medical history, a complete physical examination, and immediate skin tests with a standard battery of inhalant allergens and Candida albicans. The incidence of allergic diseases in the two groups was compared. Sixty-four patients with recurrent vaginal candidiasis also had allergic rhinitis (71%), while in the control group the incidence of this pathology was 42%. The difference was considered statistically significant, according to the software Epi info (P < .0001). The study (1) did not show an association between recurrent vaginal candidiasis and asthma and (2) indicated that patients with recurrent vaginal candidiasis have a high incidence of skin tests positive to inhalant allergens (50%), to Candida albicans (55%), and a high incidence of family history of allergies (73%). In control women, the incidence of skin test positive to inhalant allergens was 72% and to Candida albicans, 10%. There was a family history of allergies in 61% of women. The data demonstrate that recurrent vaginal candidiasis is statistically associated with perennial allergic rhinitis and that many of these women with recurrent vaginal candidiasis tend to be atopic.

BREAST CANCER RISK PROFILE OF SEDENTARY, ACTIVE, AND HIGHLY TRAINED WOMEN

355 Comparisons of established risk factors for breast cancer against physical activity levels has yet to be documented. The purpose of this study was to determine the primary and secondary breast cancer risk profiles in 325 women according to their physical activity levels. Measures on 5 primary and 2 secondary established risk factors were compared against 3 levels of physical activity. Data were obtained from a 4 page personal health, family history, and exercise survey. Highly trained individuals demonstrated a lower risk profile than did the active or sedentary groups. This was most evident by the lack of family history for breast cancer. Nulligravida was the only prevalent primary risk factor for the highly trained group. Active women were at lower risk than the sedentary women on 3 of the primary and 2 of the secondary risk factors. The sedentary group had a higher risk profile for breast cancer because they were more likely to be obese, have or continue to smoke, take estrogen replacement therapy, and have a relatively high incidence of family history. Discriminate analysis revealed that the established risk factors and the level of physical activity combined were positive predictors for women with tumors (77.17%). TableTable

Benign Infantile Epilepsy with Complex Partial Seizures

Benign infantile epilepsy with complex partial seizures is characterized by a high incidence of family history of benign childhood convulsions, normal development prior to onset, infantile onset, no underlying disorders, no neurological abnormalities, normal interictal EEGs, good response to treatment, and complete remission with normal developmental outcome. Seizures often occur in clusters, consisting of motion arrest, decreased responsiveness, staring or blank eyes mostly with simple automatisms, and mild convulsive movements associated with focal paroxysmal discharges, most frequently in the temporal area.

10-year follow-up of young male patients with mild hypertension.

In 1977, 92 male patients with mild hypertension (persistent diastolic blood pressure between 90 and 104 mmHg) were found from among 1608 men aged between 18 and 40 years old who were employees of an industrial company. Of these, 81 patients were followed-up for 10 years. After that time, blood pressures (BP) of 44.4% of the mild hypertensive patients became normotensive (group N); BP of 22.2% remained mild hypertensive (group M); and BP of 33.4% increased to higher levels than the starting BP (group H). Higher levels of systolic and diastolic BP, a higher incidence of family history of hypertension, a higher voltage of SV1 + RV5 on ECG and a lower concentration of serum triglycerides at the starting point were risk factors for the progression to higher levels of hypertension. Body weights of patients in group H increased significantly during the follow-up period. These results indicate that male mild hypertensive patients with the above-mentioned risk factors should be followed carefully, especially with regard to increased body weights.

The dexamethasone suppression test in patients with primary obsessive-compulsive disorder

The dexamethasone suppression test (DST) was administered to 16 obsessive-compulsive disorder (OCD) patients. Six of these patients (37.5%) had an abnormal DST response. There was a trend for patients with the DST abnormality to have higher depression rating scale scores and a higher incidence of family history of affective illness compared to DST suppressors. Although 7 of the 16 OCD patients met DSM-III criteria for major depressive disorder, in every case the affective symptoms were secondary to the primary obsessional illness. The relationship of the DST to the specificity of psychiatric diagnoses is discussed.