Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder.

Despite the fact that mitochondrial dysfunctions are increasingly recognized as key components in stress-related mental disorders, very little is known about the association between posttraumatic stress disorder (PTSD) and mitochondrial variants. To identify susceptibility mitochondrial genes for PTSD, we analyzed a total number of 978 mitochondrial single-nucleotide polymorphisms (mtSNPs) in a sample of 1238 individuals participating in the KORA (Cooperative Health Research in the Region of Augsburg) study. Participants were classified with 'no PTSD', 'partial PTSD' or 'full PTSD' by applying the Posttraumatic Diagnostic Scale and the Impact of Event Scale. To assess PTSD-mtSNP association while taking heteroplasmy into account, we used the raw signal intensity values measured on the microarray and applied linear regression. Significant associations were obtained between full versus no PTSD and two mtSNPs; mt8414C->T (ß=-0.954±0.06, Padjusted=0.037) located in adenosine triphosphate (ATP) synthase subunit 8 (MT-ATP8) and mt12501G->A (ß=-1.782±0.40, Padjusted=0.015) located in the NADH dehydrogenase subunits 5 (MT-ND5). Heteroplasmy for the two variants towards a larger number of the respective minor alleles increases the risk of having PTSD. NADH dehydrogenase and ATP synthase are both linked to the regulation of reactive oxygen species. Our results highlight the important role of the mitochondrial genome among the factors that contribute to the risk of PTSD. Mitochondrial genetic variants may be more important than has previously been assumed, leading to further insights regarding effects of existing medications, or even to the development of innovative treatments. As this is the first mitochondrial genome-wide association study for PTSDs, further analyses are needed to follow up on the present findings.

Prevalence of cervical and lumbar disc disorders in pilots of the German armed forces.

On-duty and off-duty, military pilots of the Bundeswehr frequently complain of pains in the spine curtailing performance, reducing service hours and eventually leading even to unfitness for military flying duties. Such disorders may be caused by intervertebral disc alterations. In the period comprising August 1994 and December 1998, 286 pilots (8.1% of all A/C pilots or weapon systems officers of the Bundeswehr) with disc-related disorders in the areas of the cervical and of the lumbar spine were examined at the German Air Force Institute of Aviation Medicine. Helicopter pilots had significantly higher rate of intervertebral disc disorders compared to the group of jet pilots and transport A/C pilots (9.9% : 6.6%). The pilots had their first disorders at an average age of 39.2 yrs (jet p.: 37.6 yrs, helicopter p.: 40.4 yrs, transport A/C p.: 39.2 yrs). - Depending on the number of hours, namely after 2680 hours of flying on average, pilots had discopathies, (jet p.: 1830 h, helicopter p.: 3186 h, transport A/C p.: 2670 h). - Finally, the total group of pilots will be compared to a non-flying control group (consisting of air traffic control personnel of 11 army aviation regiments.

Neuropsychological and neuroendocrinological disturbances associated with extracerebral cysts of the anterior and middle cranial fossa.

In ten adult patients various clinical signs and symptoms led to the diagnosis of an arachnoid cyst in the anterior and middle cranial fossa. In this study a functional relationship between these cysts and disturbances of higher cognitive processes is described. In addition, neuroendocrinological impairment were caused by arachnoid cysts reaching into the suprasellar cistern. Considering the short medical history of our patients we presumed the disturbances not to be primary, but rather secondary, caused by an expansion of the cysts' volume.

Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers.

A new genetic syndrome of the combined occurrence of hypogonadotropic hypogonadism, anosmia (Kallmann syndrome) and congenital mirror movements in four brothers is presented. Mirror movements were manifest only within the distal parts of the upper extremities and resembled congenital mirror movements described for isolated or familial cases or those occurring in combination with other genetic defects. The hypothesis is supported, that a midline fusion disorder with preponderance of uncrossed pyramidal tract fibers is a major pathogenetic factor for the occurrence of congenital mirror movements.

[Follow-up studies of subtotal carotid artery stenosis (author's transl)]. / Verlaufsbeobachtungen bei subtotaler Carotisstenose

Angiographic and/or operative follow up studies on 19 patients with angiographically demonstrated subtotal carotid artery stenosis showed the following results: In 3 out of 16 cases where no immediate operation of the stenosis was performed, complete occlusion followed within a week of the angiographic demonstration of the stenosis. Though intramural artifacts did not occur, this could be a consequence of the angiographic procedure (temporary fall of blood pressure?). In 4 out of 7 cases with subtotal stenosis where the diagnosis was known for at least 6 months, no occlusion occurred. The blood flow through a subtotal carotid artery stenosis might not be as small as is usually assumed, as illustrated by 2 out of 3 cases where a definite increase in the symptoms occurred on complete occlusion of the the vessel. The results indicate that cases of subtotal stenosis should be promptly treated by disobliteration.

Dissecting aneurysm of the petrous portion of the internal carotid artery. Case report and review of previous cases.

A "spontaneous" dissecting aneurysm of the petrous portion of the right internal cartoid artery in a 60 year old man was demonstrated angiographically. It showed a typical double lumen which is rarely demonstrated by angiography. It was probably of atherosclerotic origin. In addition, a survey of the positions and angiographic characteristics of the 29 traumatic and "spontaneous" dissecting aneurysms of the common and internal carotid arteries found in the literature is presented.