Mitochondrial Control Region and microsatellite analyses on harbour porpoise (Phocoena phocoena) unravel population differentiation in the Baltic Sea and adjacent waters

The population status of the harbour porpoise (Phocoena phocoena) in the Baltic area has been a continuous matter of debate. Here we present the by far most comprehensive genetic population structure assessment to date for this region, both with regard to geographic coverage and sample size: 497 porpoise samples from North Sea, Skagerrak, Kattegat, Belt Sea, and Inner Baltic Sea were sequenced at the mitochondrial Control Region and 305 of these specimens were typed at 15 polymorphic microsatellite loci. Samples were stratified according to sample type (stranding vs. by-caught), sex, and season (breeding vs. non-breeding season). Our data provide ample evidence for a population split between the Skagerrak and the Belt Sea, with a transition zone in the Kattegat area. Among other measures, this was particularly visible in significant frequency shifts of the most abundant mitochondrial haplotypes. A particular haplotype almost absent in the North Sea was the most abundant in Belt Sea and Inner Baltic Sea. Microsatellites yielded a similar pattern (i.e., turnover in occurrence of clusters identified by STRUCTURE). Moreover, a highly significant association between microsatellite assignment and unlinked mitochondrial haplotypes further indicates a split between North Sea and Baltic porpoises. For the Inner Baltic Sea, we consistently recovered a small, but significant separation from the Belt Sea population. Despite recent arguments that separation should exceed a predefined threshold before populations shall be managed separately, we argue in favour of precautionary acknowledging the Inner Baltic porpoises as a separate management unit, which should receive particular attention, as it is threatened by various factors, in particular local fishery measures. © Springer Science+Business Media B.V. 2009

Kvinnors upplevelser av att ha drabbats av bröstcancer : En systematisk litteraturstudie

Bakgrund: Bröstcancer är den vanligaste cancerformen bland kvinnor i Sverige och var tionde kvinna riskerar att drabbas någon gång under sitt liv. Att drabbas av svår sjukdom innebär en avvikelse från det normala livet och leder till en omtolkning av de egna livsvillkoren. Som teoretisk förankring användes Katie Erikssons teori om lidande. Syfte: Syftet med denna studie var att belysa kvinnors upplevelser av att ha drabbats av bröstcancer. Metod: I den systematiska litteraturstudien granskades och analyserades 12 vetenskapliga artiklar som hämtades ur databaserna Cinahl, PubMed och PsycINFO. Resultat: Analysen resulterade i fem kategorier: existentiella och emotionella upplevelser, upplevelser i samband med vård och behandling, sociala relationer, identitetsförändring och meningsskapande strategier. I resultatet framkom det att cancerbeskedet framkallade starka reaktioner och känslor av chock och dödsångest. Många kvinnor upplevde att hela livet påverkades och att den egna identiteten förändrades. Slutsats: Att få en inblick i den enskilda individens upplevelse av sin sjukdom är av stor betydelse för såväl personal som patient. Att se människan bakom sjukdomen möjliggör en god vårdrelation och en god vård. Ett arbetssätt som möjliggör samtal utöver den direkta omvårdnaden samt uppföljningssamtal efter avslutad behandling, kan minska risken att patienten lämnas ensam med eventuella frågor och tankar.

Prenatal compared with postnatal cleft diagnosis: What do the parents think?

Since the 1980s, prenatal detection of cleft lip with or without cleft palate (CLP) is possible with a transabdominal ultrasound. The improvement of prenatal detection has resulted in an increased demand for prenatal information and counselling. The aim of this study was to, by means of a questionnaire, evaluate how families, who received the diagnosis prenatally and postnatally, respectively, think about the prenatal and postnatal consultation. Patients referred prenatally or postnatally to the department, due to CLP, between January 2006 and September 2010 were included in the study. Thirty-six of the families (95%) answered the questionnaire concerning prenatal counselling. A total of 46 parents (82%) answered the questionnaire concerning postnatal counselling. In the prenatal group, half of the patients were first informed by the ultrasound unit, whereas 16% were initially informed by the cleft team. More of the families that were informed by the cleft team were content with the information received than the families who were informed by the ultrasound unit. The majority of the families were satisfied with the structure of the consultation. Most of the patients in the postnatal group were happy with the postnatal consultation. Most of the parents in the postnatal group would have wanted to know about the diagnosis prenatally. The great majority of the parents was happy with the consultation with the cleft team and thought that they received enough information. However, the information received at the referring units could be improved. Parents seem to want information on the cleft diagnosis and its treatment as soon as possible

Midwives' Experiences in Providing Care and Counselling to Women with Female Genital Mutilation (FGM) Related Problems

Aim. The aim of this study was to elucidate midwives experiences in providing care and counselling to women with FGM related problems. Setting. The study was conducted at a maternity clinic in Hargeisa, Somaliland. Method. A qualitative, inductive study were performed with eight midwives living in Somaliland. The interviews had semi-structured questions. Content analysis was used for the analysis. Findings. The main findings of the present study were how midwives are challenged by culture and religion when providing FGM counselling. The most prominent challenge is the perception that FGM is an important part of the culture and from this point of view the midwives work is apprehended as interfering and subverting the Somali culture. Having personal experience of FGM emerged as a benefit when counselling women. Conclusion. There is a contradiction between the professional actions of performing FGM despite a personal belief against FGM. Midwives as a professional group could be important agents of change and further research is needed about the midwives role in this process

Outpatients’ Perspectives on Problems and Needs Related to Female Genital Mutilation/Cutting: A Qualitative Study from Somaliland

Aim. To explore female outpatients’ perspectives on problems related to female genital mutilation/cutting (FGM/C) and their views on information, care, and counseling. Setting. An FGM/C support center at a maternity clinic in Hargeisa, Somaliland. Methods. A qualitative, descriptive study, using content analysis of seven semistructured interviews with female outpatients. Results. All participants had been ignorant of the etiology of their FGM/C-related complications and hesitant to seek care. All had undergone infibulation but did not wish the same for their daughters. In recent years they had learnt through religious leaders and media campaigns that infibulation was unapproved by Islam. A less severe FGM/C type, “Sunna,” was more accepted; however, few could define what “Sunna” meant. Condemning and ridiculing attitudes against uncircumcised women prevailed in their community. Conclusions. New ideas and concepts related to FGM/C enter the common discourse in the Somali society while traditional norms and values still prevail. Religion was shown to have a strong impact on FGM/C practices and beliefs. Interventions aiming to raise awareness of health consequences of all types of FGM/C, as well as where to seek care for complications, are needed in Somaliland. Involvement of religious leaders in anti-FGM/C programs is essential

Prenatal ultrasound detection of cleft lip, or cleft palate, or both, in southern Sweden, 2006-2010.

It has been possible to detect cleft lip (CL), with or without cleft palate (CLP), using ultrasound (US) since the beginning of the 1980s. The aim of this study was to assess the accuracy of prenatal diagnosis of cleft lip with or without cleft palate, and isolated cleft palate (ICP), in our catchment area. Screening protocols in the different US clinics in southern Sweden were also compared, as regards evaluation of the fetal face and prenatal diagnosis of CLP. Forty-four (31%) of the patients were diagnosed by prenatal US and 97/144 (67%) were diagnosed at birth. The detection rate was 44/102 (43%) if the ICP are excluded. The specificity was 100%. Among the prenatally diagnosed clefts, 25/44 (57%) were diagnosed before the gestational age of 20 weeks. In 19/44 (43%) of the cases the US diagnosis of cleft was accurate in the light of the postnatal outcome. All US departments in our catchment area follow the Swedish guidelines and offer one routine US examination during the second trimester between 18 and 20 weeks of pregnancy. In addition, many of the clinics offer an additional US examination during the third trimester. Our detection rate is similar to previous findings. The detection rates and the accuracy of the prenatal diagnosis can be improved. To achieve this, an increased focus on detecting clefts, standardising scanning plans, and rescans in case of incomplete facial views, are essential

Prenatal ultrasound detection of cleft lip, or cleft palate, or both, in southern Sweden, 2006-2010.

It has been possible to detect cleft lip (CL), with or without cleft palate (CLP), using ultrasound (US) since the beginning of the 1980s. The aim of this study was to assess the accuracy of prenatal diagnosis of cleft lip with or without cleft palate, and isolated cleft palate (ICP), in our catchment area. Screening protocols in the different US clinics in southern Sweden were also compared, as regards evaluation of the fetal face and prenatal diagnosis of CLP. Forty-four (31%) of the patients were diagnosed by prenatal US and 97/144 (67%) were diagnosed at birth. The detection rate was 44/102 (43%) if the ICP are excluded. The specificity was 100%. Among the prenatally diagnosed clefts, 25/44 (57%) were diagnosed before the gestational age of 20 weeks. In 19/44 (43%) of the cases the US diagnosis of cleft was accurate in the light of the postnatal outcome. All US departments in our catchment area follow the Swedish guidelines and offer one routine US examination during the second trimester between 18 and 20 weeks of pregnancy. In addition, many of the clinics offer an additional US examination during the third trimester. Our detection rate is similar to previous findings. The detection rates and the accuracy of the prenatal diagnosis can be improved. To achieve this, an increased focus on detecting clefts, standardising scanning plans, and rescans in case of incomplete facial views, are essential

Changes in Heart Rate and Heart Rate Variability During Surgical Stages to Completed Fontan Circulation

Arrhythmia is related to heart rate variability (HRV), which reflects the autonomic nervous regulation of the heart. We hypothesized that autonomic nervous ganglia, located at the junction of the superior vena cava’s entrance to the heart, may be affected during the bidirectional Glenn procedure (BDG), resulting in reduced HRV. We aimed to investigate changes in heart rate and HRV in a cohort of children with univentricular heart defects, undergoing stepwise surgery towards total cavopulmonary connection (TCPC), and compare these results with healthy controls. Twenty four hours Holter-ECG recordings were obtained before BDG (n = 47), after BDG (n = 47), and after total cavopulmonary connection (TCPC) (n = 45) in patients and in 38 healthy controls. HRV was analyzed by spectral and Poincaré methods. Age-related z scores were calculated and compared using linear mixed effects modeling. Total HRV was significantly lower in patients before BDG when compared to healthy controls. The mean heart rate was significantly reduced in patients after BDG compared to before BDG. Compared to healthy controls, patients operated with BDG had significantly reduced heart rate and reduced total HRV. Patients with TCPC showed reduced heart rate and HRV compared with healthy controls. In patients after TCPC, total HRV was decreased compared to before TCPC. Heart rate was reduced after BDG procedure, and further reductions of HRV were seen post-TCPC. Our results indicate that autonomic regulation of cardiac rhythm is affected both after BDG and again after TCPC. This may be reflected as, and contribute to, postoperative arrhythmic events.Originally included in thesis in manuscript form with title: "Changes in heart rate variability during surgical stages to completed Fontan circulation"</p

Genome-wide linkage scan for breast cancer susceptibility loci in Swedish hereditary non-BRCA1/2 families: suggestive linkage to 10q23.32-q25.3.

The two breast cancer genes BRCA1 and BRCA2 were identified more than 10 years ago and, depending on population, mutations in these genes are responsible for a varying percentage of familial breast cancer. In more than half the families, the increased risk of breast cancer cannot be explained by mutations in these genes, and the goal of this study was to locate novel susceptibility genes. One of the main difficulties in identifying the cause of hereditary non-BRCA1/BRCA2 breast cancer is genetic heterogeneity, possibly due to multiple, incompletely penetrant susceptibility genes, along with ethnic and geographic differences. In this study, one large family and 13 small to medium-sized families with multiple cases of breast cancer were analyzed by genome-wide linkage analysis. The genome scan was performed by genotype analysis of 10,000 SNP markers on microarrays. The strongest evidence of linkage (HLOD 2.34) was obtained on chromosome region 10q23.32-q25.3. A further two regions were identified, with LOD scores above 2.10 on 12q14-q21 and 19p13.3-q12. In a subset of families of western Swedish origin, two regions generated LOD scores exceeding 1.8: 10q23.32-q25.3 and 19q13.12-q13.32. The large family in the study exceeded LOD 1.5 in three regions: 10q23.32-q25.3, 19q13.12-q13.32, and 17p13. Our results indicate that one or more of the suggested regions may harbor genes that are involved in the development of breast cancer

Heart Rate Variability in Children With Fontan Circulation: Lateral Tunnel and Extracardiac Conduit

The technique in Fontan surgery has developed from the lateral tunnel (LT) toward the extracardiac conduit (EC) used to reduce long-term complications such as atrial arrhythmia and sinus node dysfunction. Heart rate variability (HRV) examines cardiac nervous activity controlling the sinus node. This study aimed to investigate HRV in a cohort of children with univentricular hearts, focusing on the relation between HRV and surgical procedure. For 112 children with Fontan circulation, HRV was analyzed using power spectral analysis. Spectral power was determined in three regions: very-low-frequency (VLF), low-frequency (LF), and high-frequency (HF) regions. Patients were compared with 66 healthy controls subject. Patients with LT were compared with patients who had EC. The children with Fontan circulation showed a significantly reduced HRV including total power (P < 0.0001), VLF (P < 0.0001), LF (P < 0.0001), and HF (P = 0.001) compared with the control subjects. The LT and EC patients did not differ significantly. Reduced HRV was found in both the LT and EC patients. In terms of HRV reduction, EC was not superior to LT