Mindfulness-based cognitive therapy for adults with intellectual disabilities: an evaluation of the effectiveness of mindfulness in reducing symptoms of depression and anxiety.

BACKGROUND: Mindfulness-based interventions have been shown to be effective in the treatment of a range of health and psychological disorders in adults and young people without intellectual disabilities (ID). Clinical studies are emerging reporting on the efficacy of mindfulness-based interventions as a stand-alone treatment for common clinical disorders in adults with ID. METHOD: This paper aims to evaluate the efficacy of an innovative structured mindfulness-based cognitive therapy (MBCT) group programme adapted for adults with ID with a diagnosis of either recurrent depression, anxiety or both clinical conditions and a history of deliberate self-harm behaviour. Two groups ran consecutively consisting of a total of fifteen participants and seven carers. All participants were recorded as having either a borderline, mild, or moderate ID. The group programme ran over a period of 9 weeks with a follow-up session at 6 weeks post group intervention. Outcome measures included the Hospital Anxiety and Depression Scale and two sub-scales from the Self-Compassion Scale administered at baseline, post therapy and at 6-week follow-up. RESULTS: The evaluation showed that participants reported an improvement in their experience of depression, anxiety, self-compassion and compassion for others. The most significant impact was in the reduced levels of anxiety reported. Improvements across all outcomes were maintained at 6-week follow-up. CONCLUSION: The results of the evaluation suggest that people with intellectual disabilities benefit from a structured MBCT group intervention and the results are maintained at 6-week follow-up.

L-Carnitine Combined with Leucine Supplementation Does Not Improve the Effectiveness of Progressive Resistance Training in Healthy Aged Women.

OBJECTIVES: To evaluate the effect of L-carnitine (LC) in combination with leucine supplementation on muscle strength and muscle hypertrophy in aged women participating in a resistance exercise training (RET) program. DESIGN/SETTING/PARTICIPANTS: Thirty-seven out of sixty (38.3% dropout) healthy women aged 60-75 years (mean 67.6 ± 0.7 years) completed the intervention in one of three groups. One of the supplemented groups received 1 g of L-carnitine-L-tartrate in combination with 3 g of L-leucine per day (LC+L group; n = 12), and the second supplemented group received 4 g of L-leucine per day (L group; n = 13). The control group (CON group; n = 12) received no supplementation. INTERVENTION: All three groups completed the same RET protocol involving exercise sessions twice per week for 24 weeks. MEASUREMENTS: Before and after the experiment, participants performed isometric and isokinetic muscle strength testing on the Biodex dynamometer. The cross-sectional areas of the major knee extensors and total thigh muscles were assessed using magnetic resonance imaging. Fasting serum levels of insulin-like growth factor-1 (IGF-1), myostatin and decorin, and plasma levels of total carnitine (TC) and trimethylamine-N-oxide (TMAO) levels were measured. RESULTS: The 24-week RET significantly increased muscle strength and muscle volume, but the group and time interactions were not significant for the muscle variables analyzed. Plasma total carnitine increased only in the LC+L group (p = 0.009). LC supplementation also caused a significant increase in plasma TMAO, which was higher after the intervention in the LC+L group than in the L (p < 0.001), and CON (p = 0.005) groups. The intervention did not change plasma TMAO concentration in the L (p = 0.959) and CON (p = 0.866) groups. After the intervention serum decorin level was higher than before in both supplemented groups combined (p = 0.012), still not significantly different to post intervention CON (p = 0.231). No changes in serum IGF-1 and myostatin concentrations and no links between the changes in blood markers and muscle function or muscle volume were observed. CONCLUSIONS: LC combined with leucine or leucine alone does not appear to improve the effectiveness of RET.

Occurrence and Relevance of Mycoplasma spp. in Racing and Ornamental Pigeons in Poland.

This report is one of the first studies describing the relationship between the occurrence of Mycoplasma spp. as regards the type of breed and health status of pigeons. The aim of the study was to evaluate the prevalence of Mycoplasma gallisepticum, Mycoplasma synoviae, Mycoplasma columbinum, Mycoplasma columborale, and Mycoplasma columbinasale in Polish populations of racing and ornamental pigeons in the context of their correlation with type of breed and health status. The study was conducted on 179 samples (100 racing and 79 ornamental pigeons) collected from pigeons in different regions of Poland. Tracheal swabs were examined for Mycoplasma spp. using genus-specific PCR. If Mycoplasma spp. were detected, the species were identified by species-specific PCR developed on the 16-23S rRNA intergenic spacer region. Ninety-two of 100 (92%) racing pigeons and 67 of 79 (85%) ornamental pigeons were Mycoplasma spp. positive. None of the tested pigeons were positive for M. gallisetpticum or M. synoviae. The average prevalence of M. columbinum was determined at 49%, M. columborale at 79%, and M. columbinasale at 23% in all birds tested. A single mycoplasma infection was found in 40% of pigeons whereas multiple infections were found in 49% of tested birds. Differences were found in the occurrence of mycoplasmas between racing and ornamental pigeons. Our results have shown a high prevalence of Mycoplasma species both as a single and as multiple infections.

Presentación e importancia de Mycoplasma spp. en palomas de carreras y ornamentales en Polonia. Este reporte es uno de los primeros estudios que describen la relación entre la presentación de Mycoplasma spp. con relación al tipo de raza y al estado de salud de las palomas. El objetivo del estudio fue evaluar la prevalencia de Mycoplasma gallisepticum, Mycoplasma synoviae, Mycoplasma columbinum, Mycoplasma columborale y Mycoplasma columbinasale en poblaciones de palomas de carreras y ornamentales en Polonia en el contexto de su correlación con el tipo de raza y estado de salud. El estudio se realizó en 179 muestras recolectadas de palomas (100 de palomas de carreras y 79 de palomas ornamentales) en diferentes regiones de Polonia. Los frotis traqueales fueron examinados para detectar Mycoplasma spp., utilizando un método de PCR específico de género. Si se detectó la presencia de Mycoplasma spp., se identificó la especie mediante un método PCR específico para la especie enfocado a la región espaciadora intergénica rRNA 16­23S. Noventa y dos de 100 (92%) palomas de carreras y 67 de 79 (85%) palomas ornamentales fueron positivas a Mycoplasma spp. Ninguna de las palomas analizadas fue positiva para M. gallisetpticum o M. synoviae. La prevalencia promedio de M. columbinum se determinó en el 49% de las aves, M. columborale en el 79% y M. columbinasale en el 23% de las aves analizadas. Se encontró infección única por mycoplasma en el 40% de las palomas, mientras que en el 49% de las aves analizadas se encontraron infecciones múltiples. Se encontraron diferencias en la presentación de mycoplasmas entre palomas de carreras y ornamentales. Estos resultados demostraron una alta prevalencia de especies de Mycoplasma tanto en infecciones únicas como múltiples.

Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo.

The phenotype of a girl at age of 12 years with a partial trisomy 4q caused by unique direct duplication 4q27 --> q31.3 included the thick, broad and straight eyebrows, upward slanting palpebral fissures, a deep-set eyes, narrow bridge and long back of the nose, flattened philtrum columns, narrow of vermilion borders of both upper and lower lips, protrusion of maxillary alveolar processus and anterior teeth together with shortened and posteriorly situated mandible, malocclusion corresponding with II class of Angle and long fingers, narrowing towards distal phalanges has been described. Further investigations are needed to delineate the clinical spectrum of features essential for partial trisomy 4q.

Impact of obesity and nitric oxide synthase gene G894T polymorphism on essential hypertension.

Hypertension is a multifactorial disease caused by environmental, metabolic and genetic factors, but little is currently known on the complex interplay between these factors and blood pressure. The aim of the present study was to assess the potential impact of obesity, and angiotensin-converting enzyme (ACE) I/D polymorphism and endothelial nitric oxide synthase gene (NOS3) 4a/4b, G894T and -T786C variants on the essential hypertension. The study group consisted of 1,027 Caucasian adults of Polish nationality (45.5 ± 13.6 years old), of which 401 met the criteria for hypertension. Body weight, height and blood pressure were measured and data on self-reported smoking status were collected. Fasting blood glucose, total cholesterol, LDL-cholesterol, HDL-cholesterol, triglycerides were determined by standard procedures. The ACE I/D polymorphism and three polymorphisms in NOS3 gene (4a/4b, G894T, -T786C) were detected by the PCR method. Multivariable logistic regression demonstrated that age above 45 years, diabetes, dyslipidemia, smoking and male sex are important risk factors for hypertension and no significant influence of variants in ACE and NOS3 genes on this risk was recognized. Obese subjects had a 3.27-times higher risk (OR = 3.27, 95% CI: 2.37 - 4.52) of hypertension than non-obese, and in obese the NOS3 894T allele was associated with 1.37 fold higher risk of hypertension (P = 0.031). The distribution of NOS3 G894T genotypes supported the co-dominant (OR = 1.35, P = 0.034, Pfit = 0.435) or recessive (OR = 2.00, P = 0.046, Pfit = 0.286), but not dominant model of inheritance (P = 0.100). The study indicates that in obese NOS3 G894T polymorphism may enhance hypertension risk. However, in the presence of such strong risk factors as age, diabetes and smoking, the impact of this genetic variant seems to be attenuated. Further studies are needed to reveal the usefulness of G894T polymorphism in hypertension risk assessment in obese.

XYY syndrome and acute myeloblastic leukemia.

A 69-year-old man with hypogonadism was found to have a 47,XYY karyotype. Clinical and laboratory data revealed acute nonlymphocytic leukemia (ANLL) of the M2 type. The association between the XYY and ANLL-M2 is most likely accidental coincidence.

[Familial translocation t (9;16) in a patient with irregular menstrual cycles]. / Rodzinna translokacja t (9;16) u pacjentki z nieregularnymi cyklami miesiaczkowymi.

In this report we present a family with identified carriers of unique reciprocal translocation t (9; 16) (q31; q13) detected through karyotyping of the patient with irregularity of menstrual cycles. Genetic risk for birth of a child with congenital anomalies was estimated as low (0.6%). However, risk for abortion was high. We suggest introducing cytogenetic studies in such cases.

[Pedigree analysis of childless families of reciprocal chromosome translocation carriers]. / Analiza rodowodowa bezdzietnych rodzin obciazonych nosicielstwem translokacji chromosomowych wzajemnych.

OBJECTIVES: Pedigree analysis of childless families of unique reciprocal chromosome translocation (RCT) carriers may be useful for clinical prognosis and genetic counselling. MATERIAL AND METHODS: The group 13 childless families of RCT carriers were detected. Cytogenetic analysis of RCT was performed on blood samples using GTG and RBG banding technique. RESULTS: Thirteen pedigrees were constructed on basis of 64 cytogenetic results and anamnestic data of 62 spontaneous abortions and 7 stillbirths. Familial RCT were found in ten families. In addition fourteen relatives of the RCT carriers have had healthy children. Further observations showed other three healthy children among progeny of eight families. Low risk for unbalanced progeny at birth were estimate in most families. CONCLUSION: Childless families of RCT carriers have possibility to have healthy offsprings. Spontaneous abortions are result of RCT carrierstrip.

[Familial complex chromosome translocation of t(1;4;10)(q21.3;q27;q26.1) verified by FISH]. / Rodzinne wystepowanie zlozonej translokacji chromosomowej t (1;4;10) (q21.3;q27;q26.1) zweryfikowanej metoda FISH.

The inheritance complex chromosome translocation is a rare. A familial complex chromosome rearrangement t(1;4;10)(q21.3;q27;q26.1) involving three chromosomes ascertained due to four spontaneous abortions in phenotypically normal childless woman there is presented. Cytogenetic analysis according to classic banding techniques were verified by fluorescent in situ hybridization (FISH) technique.

Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2.

PURPOSE: Genetic counseling of carriers with individual chromosome translocation requires information on how balanced reciprocal chromosome translocations (RCT) will segregate, what possible form of unbalanced embryo/fetus/child can occur, and the survival rates that have been observed in the particular families. We collected new empirical data and evaluated pedigrees of RCT carriers involving 9p in order to improve risk figures. MATERIAL AND METHODS: Empirical data on 241 pregnancies of 70 carriers were collected from 32 pedigrees of carriers of RCT at risk for a single 9p segment imbalance (RCT9p) from the literature and unpublished data. The probability rates of particular types of pathology have been calculated according to the method of Stengel-Rutkowski and Stene. Cytogenetic interpretation was based on GTG, RBG and FISH techniques. RESULTS: The probability rate for unbalanced offspring at birth for the whole group of pedigrees was calculated as 17.8+/-3% (33/185) (high risk). Considering the size of the imbalanced segment of 9p, the probability rates for RCT carriers with a breakpoint position at 9p22 at 9p13 and at 9p11.2 were estimated separately, and were found as 21.2+/-4.4% (18/85), 25+/-8.8% (6/24) and 11.8+/-3.7% (9/76), respectively. For unbalanced fetuses at 2nd prenatal diagnosis, we found the risk value as 57.9+/-11.3 % (11/19). The risk value for unkaryotyped stillbirths/early deaths of newborns and miscarriages were 5.4+/-1.7% (10/185) (medium risk) and 13+/-2.8% (rate 24/185) (high risk) respectively. CONCLUSIONS: Our results showed that the recurrence probability rates are different for particular categories of unfavorable pregnancy outcomes. How much they are dependent on the size of 9p chromosome segments taking part in the imbalance needs further studies based on a larger number of observations.

Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.

PURPOSE: The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. In order to obtain the recurrence probability rates for the particular forms of unfavourable pregnancy we collected the empirical data and evaluated pedigrees of reciprocal chromosome translocations (RCT) carriers involving 4p. Results were applied to family of carrier of t(4;11)(p16.1;q23.3) ascertained by four miscarriages, in which latter the girl with WHS was born. MATERIAL AND METHODS: Total empirical data about 170 pregnancies of 46 carriers were collected from 25 pedigrees RCT at risk for single segment imbalance. Classification was based mostly on cytogenetic methods. The probability rates of particular type of pathology related to total number of pregnancies after ascertainment correction have been calculated according to the method of Stengel-Rutkowski and Stene. RESULTS: The risk figures for unbalanced offspring after 2:2 disjunction and adjacent-1 segregation for whole group of pedigrees were calculated as 15.2 +/- 3.5% (16/105), for unbalanced fetuses at second trimester of prenatal diagnosis as 50 +/- 13.4% (7/14), for miscarriages about 19 +/- 3.8% (20/105) and for stillbirths/early death as 15.2 +/- 3.5% (16/105). The higher probability rate for RCT carriers at risk for distal 4p--shorter segment imbalance (28.6 +/- 12%, 4/14) in comparison to the rate for proximal (medium) one as 15.4 +/- 4.5% (10/65) and to more proximal (longer) one as 7.7 +/- 5.2% (2/26) were found. CONCLUSIONS: Our results confirm that the recurrence probability rates are different for particular categories of unfavourable pregnancy outcomes and dependent on size and genetic content of unbalanced 4p segments.

The effect of rhizobiophages on the effectiveness of Rhizobium meliloti in symbiosis with lucerne. II. Effects of phages on the R. meliloti strains during passing them through the plant.

Studies were carried out of the effectiveness of Rhizobium meliloti strains reisolated from the roots of lucerne inoculated with effective and non-effective strains in the presence or absence of rhizobiophages. Estimates were made of the changes in phage-sensitivity and lysogeny found in these strains compared with the parent strains. It was found that the character of the reisolated strains depended on the changes brought about by passing through the plant and on the activity of the phages.

The effect of rhizobiophages on the effectiveness of Rhizobium meliloti in symbiosis with lucerne. I. Effect of various strains of R. meliloti and rhizobiophages on the yield and nitrogen fixation in lucerne.

Pot and test-tube experiments were carried out on the effect of phages on yield and nitrogen fixation in lucerne inoculated with effective and non-effective strains of Rhizobium meliloti. It was found that some strains of R. meliloti became activated by the phages, which was reflected in an increase in yield and in crude protein content in the plants, while others lost their effectiveness. The results of pot experiments were in line with those of the test-tube experiments and have demonstrated that the effect of phages on the effectiveness of Rhizobium is not simply negative or positive, but depends on the properties of the bacterial strains used.

Familial occurrence of isodicentric X chromosomes with different breakpoints.

We report two cases of an idic (X) chromosome found in relatives with Turner's syndrome. A 21-year-old female revealed a non-mosaic form of X isochromosome of the long arms with two C-band regions, i.e. dic(X)(qter----cen----p11::p11----cen----qter). Her 46-year-old aunt with Turner's syndrome had an X chromosome with long arm breakpoints at site q21 and chromosomal mosaicism, i.e. 45,X/46,X, dic(X)(pter----q21::q21----pter)(78/22). The relative rarity of reports about familial Turner's syndrome with structural abnormality may suggest a coincidence. However, it is difficult to exclude familial predisposition to X isochromosome formation in this family.