Primary care physicians' views on osteoporosis management: a qualitative study.

Osteoporosis is an under-diagnosed condition; only around 14% of patients in Sweden receive bone-specific treatment after a fragility fracture. This qualitative interview study found that primary care physicians perceive osteoporosis as a silent disease that is overshadowed by other conditions and is complicated to manage. PURPOSE: To explore primary care physicians' views on managing osteoporosis. METHODS: A total of 17 primary care physicians in Stockholm participated in four focus group interviews. Interview transcripts were analysed with thematic analysis. RESULTS: One main theme was found: Osteoporosis-a silent disease overshadowed by other conditions. The main theme contained five sub-themes. Physicians perceived osteoporosis as a low-priority issue. They described uncertainty about managing it and insufficient awareness of the condition in primary healthcare (PHC). Physicians had differing opinions about who is responsible for managing osteoporosis. They reported that the health care system regulated their work such that they gave low priority to the condition. They were uncertain about the value of the Fracture Risk Assessment Tool (FRAX). The physicians thought that financial incentives, education, and increased collaboration with other relevant health care professionals and with patients were needed to increase the priority of osteoporosis in PHC. CONCLUSION: Physicians perceived osteoporosis as a silent disease that is complicated to manage. They gave low priority to osteoporosis and thought their patients shared this view. The physicians saw other issues and medical conditions as more important than osteoporosis. They wanted better collaboration at their PHC centres and with hospitals. They also wanted district nurses to be more involved in managing osteoporosis and especially in assessing fracture risk.

District nurses' perceptions of osteoporosis management: a qualitative study.

UNLABELLED: Underdiagnosis of osteoporosis is common. This study investigated Swedish district nurses' perceptions of osteoporosis management. They perceived the condition as having low priority, and the consequences of this perception were insufficient awareness of the condition and perceptions of bone-specific medication as unsafe. They perceived, though, competency when working with fall prevention. INTRODUCTION: Undertreatment of patients with osteoporosis is common. Sweden's medical care strategy dictates prioritisation of various conditions; while guidelines exist, osteoporosis is not prioritised. The aim of this study was to investigate district nurses' perceptions of osteoporosis management within Sweden's primary health care system. METHODS: Four semi-structured focus group interviews were conducted with 13 female district nurses. The interviews were analysed using thematic analysis. RESULTS: The overall theme was perceiving osteoporosis management as ambiguous. The themes were perceiving barriers and perceiving opportunities. These subthemes were linked to perceiving barriers: (i) insufficient procedures, lack of time and not aware of the condition; (ii) insufficient knowledge about diagnosis and about fracture risk assessment tools; (iii) low priority condition and unclear responsibility for osteoporosis management; and (iv) bone-specific medication was sometimes perceived to be unsafe. These subthemes were linked to perceiving opportunities: (i) professional competency when discussing fall prevention in home visit programs, (ii) willingness to learn more about osteoporosis management, (iii) collaboration with other professionals and (iv) willingness to identify individuals at high risk of fracture. CONCLUSIONS: Osteoporosis was reported, by the district nurses, to be a low-priority condition with consequences being unawareness of the condition, insufficient knowledge about bone-specific medications, fracture risk assessment tools and procedures. These may be some of the explanations for the undertreatment of osteoporosis. At the same time, the district nurses described competency performing the home visits, which emerged as an optimal opportunity to discuss fall prevention and to introduce FRAX with the aim to identify individuals at high risk of fracture.

Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops.

INTRODUCTION: The authors investigated the incidence of chromosomal abnormalities in subcutaneous oedema detected in the fetus by intrauterine ultrasonography. MATERIAL AND METHOD: In the 10-year period, intrauterine karyotyping was performed in pregnancies with positive ultrasound findings for subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. RESULTS: Intrauterine karyotyping in fetal subcutaneous oedema was carried out in 434 cases. The chromosomal investigation was made in nuchal oedema in 374 cases, in 120 patients the chromosomal examination was made in the first trimester because of nuchal translucency, and in 254 cases in the second trimester because of nuchal thickening. Cystic hygroma cases (27 patients), non-immune hydrops cases (20 patients), and combined cases of non-immune hydrops and cystic hygroma (13 patients) were investigated separately. In nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51% in the second trimester. Chromosomal abnormality was found in 48.15, 20, and 53.8% in cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all of the changes accompanied by subcutaneous oedema, 50, 25 and 18.75% of the pathological karyotypes was X-monosomy, trisomy 18 and trisomy 21, respectively. DISCUSSION: It was important to distinguish nuchal oedema and cystic hygroma, and in the case of non-immune hydrops, it was also important to discuss cases with or without cystic hygroma separately. During the investigations, cases of non-immune hydrops with or without cystic hygroma were evaluated as separate categories. CONCLUSIONS: The authors emphasize the differentiation of the various types of subcutaneous oedema and the importance of precise information about the risks, provided during genetic counselling.

Hypogastric artery ligation for intractable pelvic hemorrhage.

OBJECTIVE: To assess the outcomes of bilateral hypogastric (internal iliac) ligation performed to control intractable pelvic hemorrhage and avoid hysterectomy. METHODS: A review of indications and outcomes for 117 cases of bilateral hypogastric artery ligation over 15 years (1990-2004). RESULTS: Apart from a slight lesion to the hypogastric vein, no complications were observed. Hemorrhage was effectively controlled in all 37 obstetric cases. In 13 of these cases, the uterus was preserved even when there was cervical pregnancy, placenta previa, placental abruption, uterine atony, and uterine rupture, and 4 women were delivered of mature infants. Hemorrhage was effectively controlled in 41 of 80 gynecologic cases. Prophylactic reduction of pelvic blood flow was the indication for the procedure in 39 cases, 5 of whom involving Jehovah's Witnesses adverse to blood transfusion. The uterus was preserved in only a few of the 41 controlled cases, but one woman (so far) was delivered of a mature infant. CONCLUSION: Hypogastric artery ligation was found to be indicated if (1) life-threatening pelvic hemorrhage could not be controlled by conservative methods; (2) prophylactic reduction of pelvic blood flow was needed to prevent anticipated hemorrhage; and (3) preservation of reproductive function was desired. The procedure was found to be safe and usually effective and should be taught during obstetric and gynecologic training.

[Pre- and perinatal aspects of hemophilia A and B]. / A haemophilia A és B prae- és perinatalis vonatkozásai.

Authors investigate in a retrospective study obstetrical and genetical data in 20 years period of 149 pregnancies of patients turning to genetical counselling because of haemophilia A and B. In case of heterozygote mother there have been fetal determination of sex, and in case of male fetus, there have been DNA examination in 23 of the 35 cases. In case of sick male fetus the couple made a decision on keeping the pregnancy or not, knowing well the genetical risk. Haemophilia A occurred in case of 135 pregnancies (98 pregnancies of 55 heterozygote mothers, and 37 pregnancies from 20 sick fathers). Haemophilia B occurred in case of 14 pregnancies (9 pregnancies of 3 heterozygote mothers, and 5 pregnancies from 4 sick fathers). In case of haemophilia A heterozygote pregnant women there were 32 proven male fetuses, and in 22 cases there have been DNA examinations. In 16 cases there have been artificial abortions (in 10 cases proven disease by DNA examination), and 4 sick male newborns were born from the 16 deliveries (the disease was proven during pregnancy by DNA examination). One male newborn (healthy) was born from the 3 proven male fetuses of haemophilia B heterozygote pregnant women, in 2 cases there have been artificial abortions (in one case on the basis of DNA diagnostics). In cases of heterozygote mothers (haemophilia A and B altogether) the ration of the spontaneous abortions was 13.1%. The rations of the premature deliveries (8.2%) and the Caesarean sections (8.2%) were not higher than the national average. The ration of the bleeding complications during pregnancy was 18.7%, in 2.7% of the cases transfusion was necessary. In case of sickness of the father (in heterozygote female fetuses the haemostasis may change from the fetal side) the ration of the bleeding complications during pregnancy was 18.2%. In connection with delivery, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, abrasion after delivery in 4.1, transfusion in 10.2% in cases both of haemophilia A and B heterozygote mothers. From the neonatological complications in one case there was cerebral haemorrhage, and in one case bleeding from the umbilical stump. (Both newborns were male with haemophilia.) In connection with delivery there was no haematoma developing on the skull of the newborns, there was no need of giving transfusion. In case of sickness of the fathers the ration of the instrumental uterine examination was 6.7%, there were no neonatological and other obstetrical complications.

Apolipoprotein E allele distribution in trisomy 13, 18, and 21 conceptuses in a Hungarian population.

Reports documented a higher frequency of apolipoprotein E (apoE) allele epsilon 4 among mothers of children diagnosed with Down syndrome. We studied the prevalence of apoE alleles among 56 conceptuses with trisomy 13, trisomy 18, or trisomy 21. The presence of the 3 most common apoE alleles (epsilon 2, epsilon 3, epsilon 4) was determined by polymerase chain reaction-restriction fragment length polymorphism, and trisomy status was detected by fluorescent polymerase chain reaction followed by DNA fragment analysis and by conventional cytologic methods. We found no significant difference in the distribution of apoE alleles in the group of trisomy 21 fetuses compared with samples from healthy blood donors. The odds of having trisomy 18 for the apoE epsilon 4 group was 3-fold as high as for apoE epsilon 3 allele compared with the healthy control group. Furthermore, a statistically significant association was found for those with trisomy 18 and apoE epsilon 4, while for those with trisomy 13 and apoE epsilon 4, the test showed no significant association. The observed apoE allele epsilon 3 frequencies among patients with Down syndrome and healthy control subjects may help explain and support previous work that did not find high rates of atherosclerosis among these persons. The role of apoE alleles in the development of trisomies needs further study.

Familial association of congenital left heart abnormalities and sustained fetal arrhythmia.

Hypoplastic left heart syndrome (HLHS) is the most common cause of death from heart disease in the first week of life. There are reports about familial concordance by presumed morphogenetic mechanisms of abnormal embryonic blood flow with phenotypes of varying severity. The risk of having a child with a left heart lesion after a previously affected child may be as high as 5% to 12%. We present case reports from four families in which sustained fetal arrhythmia (three ectopic atrial tachycardias and one severe bradycardia due to excessive ectopic atrial beats) was demonstrated. Within these four families a close relative of the mother (a previous child, a brother, or a nephew) had severe left heart abnormality (three with HLHS and one with severe aortic valve stenosis). The association of sustained fetal arrhythmia of ectopic atrial origin and severe left heart abnormalities could be expected to occur by chance in a very low percentage of cases. We conclude that sustained fetal atrial ectopic arrhythmia is a congenital abnormality and should be considered as a risk factor for inherited congenital heart abnormalities.

Twin delivery after myomectomy, in vitro fertilization, and embryo reduction in an infertile woman.

A 28-year-old patient had metroplasty performed because of necrosis of a uterine fibroid. During follow-up, the left adnexa were removed because of a recurrent left ovarian cyst. The triplet gestation achieved by in vitro fertilization was reduced to twins. The living premature newborns were delivered abdominally.

Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.

Central nervous system anomalies.

The authors review the most common congenital anomalies of the central nervous system (CNS): neural tube defects (NTDs), ventriculomegaly/holoprosencephaly, hydranencephaly, holoprosencephaly sequence, iniencephaly, and microcephaly. They emphasize the importance of the diagnostic tools (biochemical markers of the maternal serum, ultrasound screening, invasive techniques), methods which are complementary to each other.

[Fetal atrioventricular septal defect associated with Patau and Edwards syndromes, as well as trisomy 22]. / Magzati atrioventricularis septumdefektus társulása Patau- és Edwards-szindrómával, valamint 22-es trisomiával.

The atrioventricular septal defect is usually associated with trisomy 21 and it may be observed in the heterotaxia syndromes. Atrioventricular septal defect may be associated with 8p deletion. There are reported cases of familial atrioventricular septal defect. Atrioventicular septal defect is rarely associated with other chromosomal abnormalities. We are reporting three unusual cases of atrioventricular septal defect that were associated with trisomy 13, 18 and 22. This association may be due to effect of genetic loci on the 13, 18 and 22 chromosome which could play the role in the development and fusion of endocardial cushion and atrioventricular septal defect.

Fetal RhD genotyping by analysis of maternal blood. A case report.

BACKGROUND: Prenatal determination of fetal rhesus D (RhD) status is desirable in pregnancies in sensitized, RhD-negative women to prevent hydropic degeneration of the fetus. Recently, a polymerase chain reaction (PCR) test on amniocytes or chorionic villi has been in use to demonstrate the RhD status of the fetus in sensitized pregnancies. A more advisable, noninvasive approach is to determine the fetal RhD group from fetal cells circulating in maternal blood. CASE: We report on a prenatal diagnosis where RhD-positive cells could be detected from peripheral blood of a sensitized, RhD-negative mother. The presence of an RhD-positive fetus was confirmed by subsequent amplification of fetal DNA obtained by chorionic villus biopsy. CONCLUSION: In sensitized pregnancies, the number of fetal cells in maternal blood seems to be high enough to be detected by PCR in every case.

[Severe left heart developmental disorder and severe fetal arrhythmia in the same family--a coincidental association?]. / Súlyos bal szívfél fejlödési rendellenesség és súlyos magzati arrhythmia egyazon családban--véletlen társulás?

The etiology, pathogenesis and risk for inheritance of congenital heart abnormalities are important questions. The development of fetal echocardiography and fetopathology helped in examination of this problem. Between September 1992 and June 1997 there were found four families where one member of the family had hypoplastic left heart syndrome and other member sustained fetal arrhythmia. The familiarity of hypoplastic left heart syndrome and some special forms of arrhythmias are well known. The reported familial association of these two abnormalities which in the first in the literature, may have a possibility that a sustained ectopic atrial arrhythmias are as severe risk factors for left heart abnormalities as other left heart abnormalities are.

Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood.

[DNA-based prenatal diagnosis in epidermolysis bullosa]. / DNS-alapú praenatalis diagnózis epidermolysis bullosában.

Authors report a prenatal diagnosis in a family of Herlitz junctional epidermolysis bullosa with risk of recurrence. The diagnosis in the family was established in the case of the affected older brother using electron microscopy and immunofluorescence microscopy. The underlying mutation was also detected in the gene LAMB3. The affected older brother was homozygous, the parents and one of the siblings proved to be heterozygous carriers for the mutation and the other sibling was genotypically normal. The chorionic villous sample biopsy was carried out in the 11, week of pregnancy in order to extract fetal desoxyribonucleic acid. The previously detected mutation generates new restriction enzyme site, which was tested after the polymerase chain reaction amplification of the exon. Desoxyribonucleic acid samples of the family members and an unaffected unrelated control person were used as controls. The fetus proved to be genotypically normal.

[Prenatal determination of fetal RhD-positivity from the blood of the RhD-negative mother]. / Magzati RhD-pozitív vércsoport praenatalis meghatározása RhD-negatív anya véréböl.

It is reported on a prenatal determination of fetal RhD blood group from blood of a sensitized RhD-positive mother at 11th week gestation. The result was confirmed by a subsequent amplification of fetal DNA obtained by chorionic villus biopsy. It is supposed that in sensitized pregnancies the high number of fetal RhD-positive red blood cells in maternal blood is enough to be detectable by polymerase chain reaction.

[Prenatal diagnosis of hemophilia B]. / Praenatalis diagnózis haemophilia B betegségben.

The authors are reporting on the prenatal diagnosis of the X-linked haemophilia B for the first time in Hungary applying the polymerase chain reaction. DNA sequence containing a HhaI restriction endonuclease site close to the factor IX gene was amplified using polymerase chain reaction. The products from polymerase chain reaction were detected on polyacrylamide gel with ethidium bromide staining after the digestion with HhaI restriction enzyme. In the first step of the diagnosis DNA specimen was prepared from chorion derived from a 11th week gestation of haemophilia B carrier mother. The investigation of fetal DNA proved a male fetus. The detection of HhaI polymorphism of the fetus demonstrated the inheritance of the disease causing allele. The parents asked for the termination of pregnancy based on the result.

Risk of recurrence of craniospinal anomalies.

The authors analyzed 1,655 situations from their Genetic Counseling Service over a 15 year period where the reason for counseling was craniospinal anomaly (neural tube defects and/or hydrocephalus) in the family. Excluding the obviously monogenically inherited cases, they investigated pregnancies undertaken after 1,285 isolated and 177 multiple forms of craniospinal abnormalities. The recurrence rate of craniospinal defects was found to be 3.66%, which is about ten times higher than the general population risk, supporting the theory of the multifactorial threshold model in the inheritance of these anomalies. The recurrence risks of neural tube defects and of hydrocephalus were 3.47% and 2.95%, respectively. The authors concluded that recurrence risk is mainly influenced by the pathoanatomic severity of the involved anomaly, the degree of relationship, and the number of affected relatives in the family. There is a positive correlation between the pathoanatomic severity of the anomaly in the proband and the offspring. At least in one-half of the cases the same type of anomaly was observed again in the offspring as in the proband. Attention is drawn to the fact that hydrocephalus (ventriculomegaly) is often manifested only in the second half of gestation. Therefore, performing ultrasound examination is strongly recommended not only at the 18th but at the 24th week of gestation, as well in pregnancies with a positive history of neural tube defects and/or hydrocephalus.

[Successful twin delivery following reduction of quadruplet pregnancy]. / Négyesiker-terhesség redukciója után kiviselt kettósiker-terhesség.

The authors report first time in the Hungarian literature on multifetal pregnancy reduction: a quadruplet pregnancy was reduced to twins on transabdominal way in the 16th week of gestation on request of the parents. The quadruplets resulted from a forcefully induced ovulation. First weeks of gestation were complicated by a severe but effectively treated ovarian hyperstimulation syndrome. Following the successful and uncomplicated intervention the course of pregnancy was undisturbed, two living healthy babies were delivered in the 35th gestation week. Placentae of the liveborn as well as of the stillborn fetuses were pathologically examined. On occasion of the case report theoretical and practical questions of multifetal pregnancy reduction are discussed in details from indications through technical implementation to a review of legal, ethical and also psychological relations of that intervention. A standpoint for the national practice is also framed by the authors.