Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.

Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.

Antimycobacterial eudesmanolides from Inula helenium and Rudbeckia subtomentosa.

In a bioassay guided search for antimycobacterial compounds from higher plants, the root extracts of Elecampane (Inula helenium L.; Asteraceae) and Sweet Coneflower (Rudbeckia subtomentosa Pursh.; Asteraceae) were chemically investigated for their active constituents. Chromatographic fractions of root extracts of l. helenium, which exhibited significant activity against Mycobacterium tuberculosis, provided the known eudesmanolides alantolactone, isoalantolactone, and 11 alpha H, 13-dihydroisoalantolactone. Peracid epoxidation of alantolactone and isoalantolactone provided 5 alpha-epoxyalantolactone and 4(15) alpha-epoxyisoalantolactone, respectively and oxidation of alantolactone with OsO4 gave 11,13-dihydroxyalantolactone. Active fractions from R subtomentosa contained the known alloalantolactone and 3-oxoalloalantolactone. The structures of the above compounds were established by spectroscopic methods including 1D and 2D NMR techniques as well as spectral comparison with previously reported data. The molecular structure of 5 alpha-epoxyalantolactone was determined by single crystal X-ray diffraction. Eleven natural and semisynthetic eudesmanolides were tested in a radiorespirometric bioassay for activity against M. tuberculosis. 5 alpha-Epoxyalantolactone and encelin from Montanoa speciosa showed minimum inhibitory concentrations (MICs) of 8 and 16 micrograms ml-1, respectively. Alantolactone, isoalantolactone and its 4 alpha, 15-epoxide, 1,2-dehydro-3-epi-isotelekin and alloalantolactone gave MICs of 32 micrograms ml-1. All other compounds showed MIC values of 128 micrograms ml-1 or higher.

Empirical foundations for writing in prevention and psychotherapy: mental and physical health outcomes.

The use of writing, alone or in conjunction with traditional psychotherapy, has increased substantially in recent years. The most widespread use of writing has been for single-shot ad hoc purposes or to log behavior. The purpose of this review is to summarize a decade of research demonstrating the efficacy of writing about past traumatic experiences on mental and physical health outcomes. It is widely acknowledged in our culture that putting upsetting experiences into words can be healthy. Research from several domains indicates that talking with friends, confiding to a therapist, praying, and even writing about one's thoughts and feelings can be physically and mentally beneficial. This review highlights advances in written disclosure that determine some therapeutic outcomes. In addition, we attempt to explore the mechanisms that predict improved psychological and physical health. Finally, limitations of previous studies are highlighted, and suggestions for future research and application are made.

Programmed writing and therapy with symbiotically enmeshed patients.

This paper illustrates how programmed writing lessons to be completed as homework assignments can be used in conjunction with traditional verbal psychotherapy. Each patient was involved in a symbolically enmeshed relationship. Special benefits for patients from the combination of programmed writing lessong with traditional psychotherapy were: (1) increased couple communication; (2) possibly more rapid change; (3) possibly shorter-term therapy; (4) increased forgotten trauma discovery; (5) and increased explicit and specific instructions. Patients were informed from the outset that the use of programmed writing lessons would or might: (1) help the therapist get a better idea of what was going on in regard to the development, values, rules, etc. of their symbiotic relationships; (2) decrease the time spent in therapy, and (3) encourage self-realization through self-directed assignments between sessions. For psychotherapists there are advantages of: (1) putting the responsibility for change on the shoulders of patients rather than on themselves; (2) using programs of theoretical and therapeutic approaches that may not be well known to the therapist; (3) reducing the frequency of sessions and administering written homework assignments when the therapist is on vacation; and (4) increasing the number of patients that can be seen for unit of therapist's time.

Growth of Helicobacter pylori in media containing cyclodextrins.

We show that solid and liquid media, supplemented only with cyclodextrins and free of blood and its derivatives, support the growth of Helicobacter pylori. These media can be used for primary isolation of the bacteria from biopsy samples, routine laboratory growth, and large-scale industrial fermentation.

Referrals of participants in an urban WIC program to health and welfare services.

The Special Supplemental Food Program for Women, Infants, and Children (WIC) provides supplemental food, nutrition education, and referrals to available health and welfare services. Recipients are income-eligible pregnant and postpartum women, their infants, and their children who are younger than 5 years of age. Although studies have documented the nutritional benefits of the program, the extent to which WIC nutritionists help eligible women to obtain available health and welfare services, and the degree to which this referral activity promotes health, is largely unknown. The researchers examined the referral activity at one urban WIC clinic, but did not evaluate the outcomes. Of 1,850 persons seen, there were 762 referrals by WIC nutritionists for 597 persons at the Lawrence, MA, clinic during a 2-month period. Of the 597 persons, 494 (83 percent) were WIC participants and 103 (17 percent) were nonparticipants. The rate of referrals for WIC participants was 27 percent. Multiple referrals were common, with 127 people receiving more than one referral. WIC nutritionists at this site offered a variety of referrals to their clients. The majority of referrals (61.7 percent) were for supplemented food. Non nutrition-related referrals were to medical and dental services (20.5 percent), developmental and educational services (12.5 percent), and social services (5.4 percent). Non nutrition-related referrals for women included referrals for family planning, substance abuse, job training, teenaged parenting, and high school equivalency programs. Infants and children were referred for dental care, growth failure, the Head Start Program, kindergarten enrollment, early intervention, and protective services. WIC nutritionists are in an ideal position to evaluate a broad spectrum of health issues and to refer participants to health and welfare services because clients return regularly for vouchers and nutrition counselling. The authors conclude that WIC nutritionists should be given formal training in the evaluation of, and referral for, non nutrition related issues in order to maximize their health advocacy role.

Protonation and complex formation constants of 3-amino-1,2,4-triazole in NaCl and CaCl(2) media at different temperatures and ionic strengths.

The protonation of 3-amino-1,2,4-triazole was studied potentiometrically (glass electrode) in sodium chloride and calcium chloride solutions, 0.13 I 0.92M, at 10, 25, 37 and 45 degrees . The effect of the background electrolyte on the protonation constants is explained by a complex formation model. The species CaL(+), CaHL(2+) and H(2)LCl (HL = 3-amino-1,2,4-triazole) are proposed. Stability constants, together with their dependence on temperature (DeltaH degrees ) and on ionic strength, are reported for the protonated and complex species.

The use of writing in psychotherapy.

The use of writing in psychotherapy is relatively new and may have meager empirical support. A rationale for the use of writing in psychotherapy is given in terms of splitting therapeutic skills into relationship and structuring skills. Writing is one application of structuring skills to increase the therapist's influence outside of the office and into the home or workplace. There are at least four different degrees of writing possible according to structure: open, focused, guided, and programmed. Examples from the available literature are given. Even though, its impact on therapeutic outcome has yet to be fully realized beyond the experience of few clinicians. Pennebacker's research contribution in the use of writing is highlighted to support its use in psychotherapy. He found that students who wrote on traumatic topics for 20 minutes a day for four days showed improved physiological reactions and fewer physical symptoms at three-month follow-up than students who wrote about trivial topics.

Successful lectin-separated bone marrow transplantation in adenosine deaminase deficiency-related severe immunodeficiency.

Severe combined immunodeficiency disease (SCID) with adenosine deaminase (ADA) deficiency is a genetic autosomic recessive disorder with profound impairment of T-cell function, invariably complicated by fatal infections. The absence of ADA-enzyme and the accumulation of deoxy-ATP, with toxic effects on the T-lymphocytes is the common feature of this disease. As a consequence, lymphoid precursors failure to develop into mature T-cells, resulting in absolute lymphopenia and atrophy of the thymus. Bone marrow transplantation from an HLA-identical donor is considered the treatment of choice for this disease. We describe the case of a 1-month-old child with ADA deficiency SCID who underwent bone marrow transplantation (BMT) using paternal haploidentical, lectin-separated marrow, as a source of hemopoietic stem cells.

[A retrospective clinico-endoscopic study of colorectal cancer. Personal case histories]. / Studio retrospettivo, clinico-endoscopico, sul cancro colorettale. Casistica personale.

Over a decade (1978-88), 180 cases of colorectal carcinoma were diagnosed. Twenty of the patients had shown no "precancerous" colonic conditions whereas screening had revealed various pathologies indicating risk in the remaining 160. The percentage distribution of the tumour in the large bowel was as follows: sigmoid colon 38%, rectum 25%, descending colon 21%, caecum 12%, transverse colon 4%. Dukes-type surgical staging of the screened patients revealed 42% in stage A, 48% stage B and 10% stage C. The sensitivity and specificity of the haemoccult test was 86% and 98% respectively while the diagnostic accuracy of double-contrast opaque enema was 79% compared to 84% for coloscopy alone and 98% for combined coloscopy and biopsy.

Omental autoimplantation of splenic tissue and intravenous pneumococcal challenge. A comparative study in rats.

Splenectomized subjects show a higher incidence of myocardial ischemia and of Overwhelming Post-Splenectomy Infection (OPSI). It is doubtful that implanted splenic tissue guarantees an adequate protection from OPSI. The histological characteristics and the capacity of protection from OPSI of two models of omental autoimplantation of splenic tissue in rats were examined. The implanted splenic tissue offers a significant protection from pneumococcal sepsis, even though there is no relation between implant architecture and survival rate.

[Cancer of the stomach in Siena and province. Clinical, epidemiologic, endoscopic and bioptic findings]. / Il cancro gastrico in Siena e provincia. Rilievi clinici, epidemiologici, endoscopici e bioptici.

Hundred-nine patients suffering from stomach cancer of 2398 oesophago-gastroduodenoscopies performed in the period 1977-1986 have been considered. The frequency of advanced stomach cancer and early stomach cancer with respect to total endoscopies was respectively 4.5% and 0.36%, which is in agreement with the literature. The results of the study show that Siena and its province present a downward trend in this condition and current rates are two cases out of 100,000 inhabitants. Meantime, careful clinical observation of patients with stomach Ca. shows the absolute lack of predictive symptoms in the early stages and the considerable importance of endoscopy in diagnosis.

Toward a classification of sex and sexual behavior.

This paper presents a classification of sexual behaviors bases on Foa and Foa's resource exchange theory. They postulated six classes of resources: information, services, possessions, money, love, and status. We expanded and applied this theory to sexual behavior through three modalities: 1) Doing (information and services), which relates to sex as performance; 2) Having (possessions and money), which relates to sex as product; and 3) Being (love and status), which relates to sex as presence. Implications of this framework for sexual deviations, empirical verification, diagnostic evaluation, and therapeutic interventions are discussed.