A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Stickler syndrome, a clinically as well as molecularly heterogeneous connective tissue disorder, is predominantly inherited in an autosomal dominant manner and is considered complete penetrant. Previously, mosaicism in Stickler syndrome has been reported in only a few cases. We describe a child with Stickler syndrome due to a novel splice site mutation in COL11A1. Initially, Sanger sequencing of both parents showed normal test results for the mutation. Due to mild phenotypic traits, the father was tested again using a more sensitive method (NGS), and was found to have low-grade mosaicism in various tissue samples (range 7-22% of the DNA). Therefore, we recommend using sensitive genetic testing when mosaicism is suspected. Furthermore, we support previous suggestions of parental testing even when the parents of an affected patient do not have obvious phenotypic signs of Stickler syndrome.

Quality assessment of diagnosis and antibiotic treatment of infectious diseases in primary care: a systematic review of quality indicators.

OBJECTIVE: To identify existing quality indicators (QIs) for diagnosis and antibiotic treatment of patients with infectious diseases in primary care. DESIGN: A systematic literature search was performed in PubMed and EMBASE. We included studies with a description of the development of QIs for diagnosis and antibiotic use in patients with infectious diseases in primary care. We extracted information about (1) type of infection; (2) target for quality assessment; (3) methodology used for developing the QIs; and (4) whether the QIs were developed for a national or international application. The QIs were organised into three categories: (1) QIs focusing on the diagnostic process; (2) QIs focusing on the decision to prescribe antibiotics; and (3) QIs concerning the choice of antibiotics. RESULTS: Eleven studies were included in this review and a total of 130 QIs were identified. The majority (72%) of the QIs were focusing on choice of antibiotics, 22% concerned the decision to prescribe antibiotics, and few (6%) concerned the diagnostic process. Most QIs were either related to respiratory tract infections or not related to any type of infection. A consensus method (mainly the Delphi technique), based on either a literature study or national guidelines, was used for the development of QIs in all of the studies. CONCLUSIONS: The small number of existing QIs predominantly focuses on the choice of antibiotics and is often drug-specific. There is a remarkable lack of diagnostic QIs. Future development of new QIs, especially disease-specific QIs concerning the diagnostic process, is needed. KEY POINTS In order to improve the use of antibiotics in primary care, measurable instruments, such as quality indicators, are needed to assess the quality of care being provided. A total of 11 studies were found, including 130 quality indicators for diagnosis and antibiotic treatment of infectious diseases in primary care. The majority of the identified quality indicators were focusing on the choice of antibiotics and only a few concerned the diagnostic process. All quality indicators were developed by means of a consensus method and were often based on literature studies or guidelines.

Three cases of Capnocytophaga canimorsus meningitis seen at a regional hospital in one year.

Three cases of meningitis caused by the fastidious Gram-negative rod Capnocytophaga canimorsus have been observed at a regional hospital in 1 y. The difficulties connected with the correct diagnosis by classical culturing methods in contrast to molecular methods, as well as possible reasons for the accumulation of cases, are discussed.

[Toe tourniquet syndrome in three month-old infant]. / Tåtourniquetsyndrom hos barn på tre måneder.

Toe tourniquet syndrome is a rare condition in which a hair or thread becomes tightly wrapped around an appendage, which causes ischaemic strangulation. We present a three month-old infant with strangulation of one toe to direct attention to this condition. Prompt recognition and complete removal of all fibres is necessary in order to prevent complications. The condition can easily be prevented by simple measures. Consequently, it is important to have the condition in mind in infants who cry for no obvious reason, and in infants presenting with oedema on fingers, toes or genitalia.

Age-dependent nongenetic influences of birth weight and adult body fat on insulin sensitivity in twins.

OBJECTIVE: We hypothesized a nongenetic influence of birth weight (BW) and twin and zygosity status on dual-energy x-ray absorptiometry determined adult total and regional body composition and a quantitative equal, although independent, importance of adult body composition and BW for insulin sensitivity. DESIGN AND METHODS: This was a clinical study of 110 young (aged 22-31 yr) and 86 elderly twins (aged 57-66 yr) and 32 age-matched controls with measures of BW, adult body composition, and insulin sensitivity. RESULTS: BW was nongenetically, positively associated with height, weight, and total and regional (trunk, arm, and leg) fat mass and percentages in the young twins. In the elderly twins, BW was persistently nongenetically related to height as well as leg fat mass and percentage. Insulin sensitivity was nongenetically influenced by total fat percentage as well as arm and trunk fat percentages, all leading to a decrease in insulin sensitivity by 20% per sd increase in the elderly twins. Conversely, a sd increase in BW led to an increase of 16% in insulin sensitivity. Total body fat and regional fat was similarly associated with insulin sensitivity in the younger twins, whereas no influence of BW was seen. CONCLUSION: BW was nongenetically, positively associated with adult height and total and regional fat mass in an age-dependent manner. BW and total and regional body fat percentages were nongenetically associated with insulin sensitivity in the elderly subjects, supporting an influence of the fetal environment on insulin sensitivity that is quantitatively similar to and independent of the effect of adult adiposity.