Biomedical subjects

H Eichberger

Publications and source records attributed to H Eichberger.

4 recordsLinked to original sources

PubMed2001

Phenotype variability in 130 adult patients with respiratory chain disorders.

Despite continuously improving diagnostic facilities, respiratory chain disorders (RCDs) are easily overlooked or misdiagnosed. We thus studied phenotype variability and the diagnostic potential of clinical and laboratory investigations in patients with RCD. We retrospectively evaluated clinical and laboratory investigations in 130 patients with RCD: 63 women and 67 men, aged 17-87 years, diagnosed between January 1992 and December 1999. mtDNA mutations were found in 20 patients; a respiratory chain defect but no mutation in 4; an abnormal lactate stress test but no mutation or biochemical defect in 66; and ragged-red fibres or reduced oxidative enzyme staining but no mutation, biochemical defect or abnormal lactate stress test in 40 patients. The most frequent initial manifestation of RCD were limb weakness, muscle pain and sensory disturbances. The most frequent clinical findings at diagnosis were muscle pain, fatiguability, limb weakness, reduced tendon reflexes and muscle wasting, irrespective of the diagnostic evidence. Mean age at onset, disease duration and time until diagnosis were 39, 14 and 13 years, respectively, without sex differences. The family history was positive in 29% of the patients. Hyperlipidaemia was found in 45%, hyper-CK-aemia in 42%, short stature in 33%, thyroid dysfunction in 17%, diabetes in 12%, and epilepsy in 8% of the patients. Laboratory investigations that prove useful to support the diagnosis of RCD are muscle biopsy, electromyography, lactate stress testing, echocardiography and mtDNA analysis. Systems most often involved in RCDs were the PNS, CNS, endocrine system and heart. The diagnosis of RCD requires awareness of the great phenotypic heterogeneity and an individualized, integral, multidisciplinary approach.

Adolescent↗

PubMed2000

Lactate-stress testing in 54 patients with mitochondriopathy.

Since there are only few data available about the lactate stress test in a group of patients with mitochondrial myopathy, we investigated the sensitivity of this test in a larger cohort of such patients. Serum lactate was determined before, during and after a 15 minute, constant 30 W workload on a bicycle ergometer in 47 controls, aged 15 to 72 years and 54 patients with mitochondrial myopathy, aged 15 to 74 years. Lactate's upper reference limits at rest, 5, 10, 15 minutes after starting, and 15 minutes after finishing the exercise were 2.0, 2.1, 2.1, 2.1 and 1.8 mmol/l respectively. The sensitivity of the lactate-stress test was 69%. The lactate-stress test complements electrophysiological and bioptical findings and proved to be helpful in diagnosing mitochondrial myopathy.

Adolescent↗

PubMed2000

Complex mitochondriopathy associated with 4 mtDNA transitions.

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left ventricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high lactate levels on exercise, partially reduced cytochrome-c oxidase staining and abnormally structured mitochondria on muscle biopsy. Mitochondrial DNA (mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle.

Adult↗

PubMed1999

External oblique abdominal muscle: a new look on its blood supply and innervation.

Numerous reports have discussed the use of the external oblique abdominal muscle as a pedicled or a free flap for defect coverage. A detailed description of the supplying vessels and nerves is a prerequisite for successful tissue transfer but so far is not available in the literature. A study of the arteries and nerves supplying the external oblique abdominal muscle was carried out in 42 cadavers after injection of a mixture of latex and bariumsulfate. In seven fresh cadavers the motor branches were identified with the Karnovsky technique. Three different groups of arteries were identified as the nurturing vessels. The cranial part of the muscle is supplied by two branches of the intercostal arteries. While the lateral branches run on the outer surface of the muscle together with the nerves, the anterior branches enter the muscle from its inner surface. The caudal part of the muscle derives its main blood supply from one or two branches of the deep circumflex iliac artery (94.7%) or the iliolumbar artery (5.3%). The external oblique abdominal muscle is innervated by motor branches of the lateral cutaneous branches of the anterior spinal nerves in a segmental pattern. With the exception of the subcostal nerve the motor branches enter the outer surface of the muscle digitation arising from the rib above. The results show that the cranial half of the external oblique abdominal muscle has a strictly segmental blood and nerve supply while the caudal half of the muscle derives its main blood supply from one artery but still shows a segmental innervation.

Abdominal Muscles↗