Sudden unexpected death in P arkinson’s disease (SUDPAR ): sleep apnea increases risk of heart attack

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Genetische Befunde bei Autismus-Spektrum-Störungen

Zusammenfassung

Autismus-Spektrum-Störungen (ASS) umfassen Störungen der sozialen Interaktion, Kommunikation sowie stereotypes Verhalten und Sonderinteressen. Sie zeigen eine Prävalenz von ca. 0,8 % im Kindes‑, Jugend- und Erwachsenenalter sowie eine Bevorzugung des männlichen Geschlechts (ca. 4:1 = männlich zu weiblich). ASS sind überwiegend genetisch bedingte Erkrankungen, wobei Heritabilitätsschätzungen aus Zwillingsstudien zwischen 64–91 % schwanken. Das Wiederholungsrisiko bei Geschwistern ist ca. 20-fach erhöht. De novo und vererbte monogenetische Erkrankungen, Mutationen, Geschlechtschromosomenaberrationen, zytogenetische Befunde, Imprinting-Erkrankungen sowie häufige Varianten sind mit ASS assoziiert. Von klinischer Relevanz sind insbesondere genetische Grunderkrankungen, die eine zusätzliche Diagnostik und Behandlung implizieren. Außerdem ist eine humangenetische Untersuchung im Blick auf die gezielte genetische Beratung von Familien hilfreich und sollte allen Familien sowie betroffenen Personen angeboten werden. In dem vorliegenden Artikel wird ein zusammenfassender, selektiver Literaturüberblick über den aktuellen Stand der genetischen Grundlagenforschung sowie der humangenetischen Untersuchung und genetischen Beratung bei ASS gegeben.

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Genetische Risikovarianten beim Parkinson-Syndrom und anderen Bewegungsstörungen

Zusammenfassung

Bewegungsstörungen sind häufig komplex-genetische Erkrankungen, bei denen genetische Risikofaktoren eine große Rolle spielen. Während z. B. beim Parkinson-Syndrom (PS) monogene Ursachen für nur 2–5 % der Erkrankungen verantwortlich sind und dies meist junge Patienten mit einem frühen Erkrankungsbeginn (<40. Lebensjahr) betrifft, scheinen häufige genetische Varianten bei der Mehrheit der Patienten das Risiko zur Entstehung der Erkrankung zu erhöhen. Bisher wurden 24 solcher Risikovarianten gefunden. Beim Restless-legs-Syndrom (RLS) sind noch keine monogenen Formen, aber sechs verschiedene Risikogenorte bekannt. Weniger gut aufgeklärt sind Risikogene für essenziellen Tremor und Dystonien, wofür nur fünf bzw. zwei verschiedene Kandidaten beschrieben wurden, deren Rolle aber (noch) nicht in unabhängigen Studien untermauert werden konnte. Im Rahmen dieses Artikels wird ein Überblick über diese Gene, deren Funktion und mögliche ursachenspezifische therapeutische Interventionen gegeben.

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Back and neck pain prevalence and their association with physical inactivity domains in adolescents

Abstract

Purpose

Back pain affects people of all ages. This may be associated with physical inactivity, and in the case of physical activity in different domains, the relationship with back pain is not clear in the literature. The aim of this study was to estimate the prevalence of low back and neck pain and investigate their association in different domains of physical inactivity.

Methods

1011 randomly selected students participated in this study. Neck and back pain were assessed using the Nordic questionnaire, whereas the Baecke Physical Activity questionnaire was used to measure physical activity domains. Separate Binary Logistic Regression models were performed to investigate the association of physical activity domains with neck or back pain.

Results

17.4% of the students reported cervical pain, while 18.0% reported low back pain. Older adolescents had a higher prevalence of cervical pain (24.4%) than younger adolescents (11.9%) (p value <0.001), as well as lumbar pain, being 25.1% in older adolescents and 12.4% in younger (p value <0.001). Adolescents physically inactive in the school environment were less likely to have pain in the cervical region [OR 0.67 (0.44–0.99)] or back pain [OR 0.60 (0.40–0.91)]. Being inactive in occupational activities was associated with cervical pain [OR 1.49 (1.06–2.10)]. Being inactive in the sports environment presented a marginal relationship with pain in the cervical region [OR 1.41 (0.99–2.02)].

Conclusions

The prevalence of neck and low back pain was higher in older adolescents and physical inactivity in the sporting context and occupational activities could be a risk factor to increase the chances of back pain.

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Determinants of the biomechanical and radiological outcome of surgical correction of adolescent idiopathic scoliosis surgery: the role of rod properties and patient characteristics

Abstract

Purpose

Aim of the study was to evaluate the role of the mechanical properties of the rod and of the characteristics of the patients (age, skeletal maturity, BMI, and Lenke type) in determining the deformity correction, its maintenance over time and the risk of mechanical failure of the instrumentation.

Methods

From March 2011 to December 2014 120 patients affected by AIS underwent posterior instrumented fusion. Two 5.5-mm CoCr rods were implanted in all patients. For every patient, age, sex, Risser grade, Lenke type curve, flexibility of the main curve, body mass index (BMI), and percentage of correction were recorded. In all patients, the Cobb angle value and rod curvature angle (RC) were evaluated. RC changes were registered and correlated to each factor to establish a possible statistically significance in a multivariate analysis. A biomechanical model was constructed to study the influence of rod diameter and material as well as the density of the anchoring implants in determining stress and deformation of rods after contouring and implantation.

Results

Radiographic and biomechanical analysis showed a different mean rod deformation for concave and convex side: 7.8° and 3.9°, respectively. RC mean value at immediate follow-up was 21.8° for the concave side and 14.6° for the convex. At 2-year minimum follow-up, RC value increases 1.5° only for the concave side. At 3.5-year mean follow-up, RC value increases 2.7°, p = 0.003, for the concave side and 1.3° for the convex, p = 0.06. The use of the stiffest material as well as of the lowest diameter resulted in higher stresses in the rods. The use of either a low or a high instrumentation density resulted only in minor differences in the loss of correction.

Conclusions

Rod diameter and material as well as patient characteristics such as BMI, age, and Risser grade play an important role in deformity correction and its maintenance over time.

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Upcoming Events in Pediatric Cardiology

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Transcatheter Retrieval of Cardiovascular Foreign Bodies in Children: A 15-Year Single Centre Experience

Abstract

There has been a rapid increase in the practice of interventional catheter treatment of congenital heart disease. Catheter retrieval of embolized cardiac devices and other foreign bodies is essential, yet no large studies have been reported in the paediatric population. Retrospective 15-year review of all children who underwent transcatheter foreign body retrieval in a tertiary cardiac centre from January 1997 to September 2012. Transcatheter retrieval of foreign bodies from the cardiovascular system was attempted in 78 patients [median age 4 (0.02–16) years and median weight 15 (1.7–74) kg] including 46 embolized devices. Transcatheter retrieval was successful in 70/78 (90%), surgical retrieval was required in 6. In two patients, small embolized coils were left in situ. Gooseneck snare was the most commonly used retrieval device. Median procedure and screening times were 90 (15–316) and 31 (2–161) min, respectively. There were no procedural deaths. Transient loss of foot pulses occurred in 5 and 2 patients required blood transfusion. Transcatheter retrieval of cardiovascular foreign bodies can be performed safely in the majority of children thus obviating the need for surgery. It is essential to have a comprehensive inventory of retrieval equipment and interventional staff conversant with its use.

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