[Post-partum hypoglycaemia in a child to a father with HNF4A diabetes].

Untreated hypoglycaemia in newborns may result in permanent cognitive damage, why early diagnosis and treatment is important. This case report describes a newborn girl, who developed hypoglycaemia, when she was two hours old despite early feeding. The father of the child had maturity-onset diabetes of the young Type 1, which is caused by an autosomal dominant inherited mutation in the HNF4A gene. Due to this, early blood glucose measurements were performed. The child was treated with extra feeding and recovered without any consequences. A later gene test showed, that the child was carrier of the mutation.

[Rhabdomyolysis caused by hyperemesis gravidarum].

Hyperemesis gravidarum (HG) is a condition of severe nausea and vomiting during pregnancy, accompanied by dehydration, electrolyte derangement and lack of nutrition. We describe a 26-year-old woman pregnant at 29 weeks of gestation, complaining about muscle pain and difficulties standing up after suffering from long-term HG followed by a weight loss of 35 kg. She had severe hypokalaemia and abnormally elevated muscle enzyme concentrations as a result of a massive catabolic process. We discuss severe HG as a rare cause of rhabdomyolysis and the importance of early aggressive resuscitation to avoid renal failure.

Use of dairy products, lactose, and calcium and risk of ovarian cancer - results from a Danish case-control study.

BACKGROUND: A number of epidemiological studies have examined the association between use of dairy products and risk of ovarian cancer, but results are conflicting. Using data from a large Danish population-based case-control study we here further examined the association between dairy consumption, lactose, and calcium and risk of overall ovarian cancer and histological types of ovarian cancer. MATERIAL AND METHODS: In the period 1995-1999 we included 554 women with epithelial ovarian cancer and 1554 randomly selected age-matched controls (35-79 years). All women participated in a detailed personal interview that included questions about dairy consumption. Data were analysed using multiple logistic regression models. RESULTS: Total dairy intake was associated with ovarian cancer risk (OR = 1.11; 95% CI: 1.07-1.15 per 100 ml/day). The association was strongest for milk [OR = 1.14; 95% CI: 1.03-1.27 per glass (200 ml)/day], soured milk products [OR = 1.49; 95% CI: 1.22-1.81 per portion (250 ml)/day] and yoghurt [OR = 1.65; 95% CI: 1.22-2.23 per portion (250 ml)/day]. In contrast, intake of cheese was associated with a decreased risk [OR = 0.70; 95% CI: 0.55-0.89 for > 1 portion (100 ml)/day compared with no intake]. Intake of lactose, but not calcium, was also associated with an increased ovarian cancer risk (OR = 1.24; 95% CI: 1.10-1.40 per 10 g of lactose/day). Similar risk patterns were observed for the different histological types of ovarian cancer, indicating virtually identical aetiologies with regard to dairy intake, lactose, and calcium. CONCLUSIONS: Our results indicate that intake of dairy products is associated with a modest increased risk of ovarian cancer. In addition, ovarian cancer development was associated with lactose intake.

Ovarian cancer and genetic susceptibility in relation to the BRCA1 and BRCA2 genes. Occurrence, clinical importance and intervention.

The Nordic countries have the highest incidences of ovarian cancer in the world (around 15 cases per 100,000 women). We have conducted a review of the recent literature with focus on the Nordic countries, on genetic susceptibility to ovarian cancer, and the clinical implications in relation to the BRCAI and BRCA2 genes. One of the strongest risk factors for ovarian cancer is a family history of ovarian and/or early-onset breast cancer. It is thought that germline mutations in BRCA1/2 might be responsible for as much as 10% of all ovarian cancer cases and all families containing either multiple case, site-specific ovarian cancer cases or breast and ovarian cancers together. Data from several international studies suggest that the lifetime risk of ovarian cancer in a BRCA 1 mutation carrier can vary from 18 to 56% and from 14 to 27% in a BRCA2 carrier, depending on the presence/absence of a family history of the disease. Genetic evaluation and testing is used in many countries to identify families with BRCA1/2 mutations. Once a mutation has been identified, genetic counseling and testing can be offered to unaffected family members. Prophylactic oophorectomy in unaffected mutation carriers will eliminate the risk of ovarian cancer, although there is a slight residual risk of peritoneal cancer. During oophorectomy, the Fallopian tube should also be removed. If a woman does not want prophylactic oophorectomy, then tubal ligation or oral contraceptive use can be considered as these have been shown to reduce ovarian cancer risk also in mutation carriers.

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.

BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available, allowing the implementation in a diagnostic service laboratory. We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes. METHODS: We applied commercially available subtelomeric fluorescence in situ hybridization (FISH). All patients referred for subtelomeric screening in a 5-year period were reviewed and abnormal cases were further characterized clinically and if possible molecularly. RESULTS: We identified nine chromosomal rearrangements (two of which were in sisters) corresponding to a diagnostic yield of approx. 7%. All had dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause.

[Consanguinity and congenital abnormalities]. / Konsangvinitet og medfødte misdannelser.

Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.