Biomedical subjects

J Mayr

Publications and source records attributed to J Mayr.

At least 19 recordsLinked to original sources

PubMed2006

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.

We report on 4 boys from 3 families presenting initially in infancy with an acute onset of flaccid tetraparesis and areflexia, resembling Guillain-Barré syndrome (GBS). However, the cerebrospinal fluid (CSF) protein was normal, while serum and CSF lactate were elevated. All patients had recurrent similar episodes, usually associated with infections. Brain MRI showed T (2) hyperintensities in the basal ganglia in two boys, in one of them at the first clinical presentation; the other one had a normal brain MRI during the first episode. A third boy had a normal MRI twice but an increased lactate peak in the basal ganglia in (1)H-MR spectroscopy. Motor nerve conduction velocities (NCV) were normal in all patients. Biochemical analyses of muscle tissue, performed in two patients, revealed a deficiency of the pyruvate dehydrogenase (PDH). Molecular genetic analysis of the X-chromosomal E1alpha subunit of PDH showed three new mutations in phylogenetically conserved areas of the protein: Glu358Lys in patient 1; Arg88Lys in patient 2 and 3 (brothers); and Leu216Ser in patient 4. In conclusion, children with "atypical GBS" should be evaluated for a mitochondrial disorder, including pyruvate dehydrogenase deficiency, even after a first episode.

Adolescent↗

PubMed2005

Transitional fractures of the distal tibia.

INTRODUCTION: The purpose of the study was to determine the outcome after treatment of transitional fractures of the distal tibia, including growth disturbances, osteoarthritis, and/or restriction of the ability to take part in sports. PATIENTS AND METHODS: In a retrospective multicentre study of 72 patients, 50 were evaluated by clinical and 46 by radiographic examination, an average of 7.4 years (standard deviation 5.9) after treatment. Of these 50 patients, initially 20 were treated non-operatively and 30 were treated operatively. The mechanism was mainly supination trauma. RESULTS: There were four revision operations, including two for fracture displacement after earlier non-operative treatment. No patients reported impairment of sports activities. In no case was the range of movement in the upper ankle joint decreased by >10 degrees . Radiographic examination revealed small osteophytes in one case and narrowing of the joint space in two; there was no axial deviation or clinical problems in any of these cases. There were no significant differences between the group treated non-operatively and the group that underwent surgery. The intermediate- to long-term outcome presented was good or very good in both the surgically and conservatively treated patients. Only two of the initially nondisplaced fractures later became displaced. This finding emphasises that operative treatment is not indicated for all nondisplaced fractures. Axial deviations may not occur, because of the little growth potential of the partially closed physis.

Adolescent↗

PubMed2005

[Sonoanatomy of the muscles and fascia spaces of the pectoral regions].

BACKGROUND: Aim of the study was to work out a reliable method for the ultrasonographic evaluation of the pectoral region. METHODS: The study was performed in 20 cadaver specimens and 20 healthy volunteers as well as in 10 patients with disorders of the pectoral region. RESULTS: For examination of the pectoralis major muscle, the landmark for the positioning of the ultrasound transducer was found to be the lateral border of the anterior axillary fold in the direction of the tip of the coracoid process. Tilting the probe medially, the fibres of the pectoralis major muscle become visible in longitudinal alignment. The main part of the clavicular portion of the pectoralis major muscle can be visualised by moving the probe parallel to this position. Tilting the probe downwards, both the internal part of the clavicular portion, the sterno-costal and the abdominal portion are evaluated. For examination of the pectoralis minor muscle, the probe is positioned between the tip of the coracoid process and the sternal angle. Thus the whole muscle can be examined with a single sweep of the transducer. In all the specimens, probands and patients of our group, both muscle, fascias and pathological lesions could be clearly depicted. SUMMARY: Based on the introduction of standard examination planes, the pectoral region can be evaluated in detail using ultrasonography. Lesions and pathologic changes can be reliably appointed to individual anatomical structures.

Fascia↗

PubMed2003

[Ultrasound detection of dislocation of the ulnar nerve from the sulcus of the elbow joint].

BACKGROUND: Chronic ulnar nerve subluxation out of the sulcus in the elbow region may be a rare reason for undefined chronic disorders in the medial elbow aspect. METHODS: We report two cases: A 38 years old male patient reports recurrent painful disorders including paresthesia of the 4th and 5th fingers. A 12 years old boy shows a palpable band in the medial elbow region without pain. RESULTS: In both patients, the ulnar nerve was completely identified, both in transverse and longitudinal planes. Sonomorphology and echogeneity were the same as in the controlateral limb. Ulnar nerve subluxation could be diagnosed in elbow joint flexion, in both cases. CONCLUSION: Dynamic ultrasonographic examination is able to diagnose and document ulnar nerve subluxation and determine further (surgical) treatment.

Adult↗

PubMed2003

[Descending intramedullary nailing for the treatment of displaced supracondylar humeral fractures in children].

BACKGROUND: Supracondylar humeral fractures are the most common lesions in childhood. Severely displaced fractures are commonly treated by crossed K-wire osteosynthesis. Such stabilized fractures require a cast and often involve postoperative complications such as iatrogenic lesions of the n. ulnaris and secondary displacements,sometimes leading to a consecutive cubitus varus. This study analyzed possible advantages of elastic stabile intramedullary nailing (ESIN) with postoperative release of motion. PATIENTS AND METHOD: All children aged 1-14 years suffering from a supracondylar humeral fracture, with a displacement in at least two planes,were included in this study (period: 1 June 1999-30 April 2001). Movement was permitted for all patients postoperatively. A follow-up examination was scheduled at least 6 months after trauma. RESULTS: This study included 20 female and 30 male patients. Neither iatrogenic lesions of the n. ulnaris nor secondary displacements occurred. Five slight technical pitfalls (perforating wire, gapping with consecutive axis deviation) occurred. Postoperative X-rays most often revealed a remaining axis deviation in the sagittal plane. Comminuted fractures with corresponding zones resulted in cubiti vari and valgi. Of the 50 patients, 47 appeared for follow-up (94%). The ROM coincided with the acquired radiological data. Only one patient (2%) showed a functional deficit greater than 10 degrees. CONCLUSION: As soft tissue swelling does not hinder the surgeon, ESIN shows a high rate of closed stabilizations. No cast has to be applied and free ROM can be permitted for all patients. Avoidance of iatrogenic lesions of the n. ulnaris and secondary displacements are other advantages of this method.

Adolescent↗

PubMed2003

[Ipsilateral femoral fracture and anterior hip dislocation in a 15-year-old girl: case report].

Operative management of concomitant ipsilateral femur fracture and anterior hip dislocation has not been previously described in the literature. We report the case of a 15-years-old girl who was injured in a motorcycle accident and presented with a femoral shaft fracture and a concomitant ipsilateral anterior hip dislocation. Operative management consisted of an attempted closed reduction of the femoral fracture, which was unsuccessful; thus, an external fixator was temporarily applied. Subsequently, the hip dislocation was treated by open reduction through an anterolateral approach. Finally, the femoral fracture was securely stabilized using an unreamed femoral intramedullary nail. The postoperative course was uneventful. MRI follow-up after 6 weeks did not reveal any sign of mangled vascularization of the femoral head and radiographs demonstrated normal bony healing of the shaft fracture. Due to the fact that there is no definitive surgical strategy for this rare combination of injuries, concomitant ipsilateral femoral fracture and anterior hip dislocation is an interesting and challenging situation for the trauma surgeon which requires a subtle and exact surgical technique in order to achieve satisfying results.

Aged↗

PubMed2003

Congenital "transhaesio intestini tenuis supragastrica" in a 14-year-old girl - a rare case of internal hernia.

Intestinal obstruction caused by internal hernia is a rare condition. A 14-year-old girl who suffered from acute abdominal pain two days after appendectomy is presented. Abdominal sonography and plain abdominal x-ray showed dilated small bowel loops and air-fluid levels indicating mechanical intestinal obstruction. Exploratory laparotomy revealed small intestine loops herniated through the lesser omentum. The anatomical aspects are reviewed and discussed.

Adolescent↗

PubMed2003

Subluxation of the ulnar nerve in the elbow region--ultrasonographic evaluation.

Chronic ulnar nerve subluxation out of its sulcus in the elbow region may be a rare reason for undefined chronic disorders in the medial elbow aspect. We present two cases, a 38-year-old male patient complaining of a recurrent painful disorder including paresthesia of the 4th and 5th fingers and a 12-year-old boy presenting with a palpable band in the medial elbow region without pain. Ultrasonography was performed using a high frequency linear probe in the longitudinal and horizontal planes including dynamic examination. In both patients, the ulnar nerve was completely identified, both in the transverse and longitudinal planes. The sonomorphology and echogeneity of the nerve were the same as in the contralateral limb. Ulnar nerve subluxation was diagnosed in elbow joint flexion, in both cases. It is possible through dynamic ultrasonographic examination to diagnose and document ulnar nerve subluxation for further (surgical) treatment.

Adult↗

PubMed2003

Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome.

Trisomy 18 is the second most frequent autosomal aneuploidy affecting about 1 in 8,000 new-borns. Similar to trisomy 13 more than 90% of the patients die within the first year. Main causes of death are failure of vital organ function, in most cases of brain, heart, kidney, and gut, sometimes combined with severe infections. The degree to which essential organs are affected at birth and the clinical course differ considerably. Unknown genetic factors and various environmental effects are most likely involved. A less severe course of Edwards syndrome can be caused by a partial trisomy due to a deletion of the extra chromosome 18 or somatic mosaicism with a trisomic and a normal cell-line in the patient. In this report conventional chromosome analysis, FISH, and QF-PCR have been performed on a 19-year-old female patient with trisomy 18 to investigate a large number of cells including non-mitotic cells from various different tissues. This study supports evidence for an apparently pure form of trisomy 18 in this "long-living" patient with Edwards syndrome.

Adolescent↗

PubMed2002

[Ultrasonic anatomy of pediatric joints].

The radiological work-up of joint injuries in young children can be very tedious due to the absent ossification of secondary ossification centers, which cannot be seen directly on plain X-ray images in this age group. Cartilaginous joint structures therefore cannot be distinguished from joint gaps using X-ray images in young children. High-resolution ultrasound scanning probes facilitate ultrasound studies of cartilaginous joint structures and growth plates in young children, thus providing a new and rewarding option for imaging of traumatic alterations of growing joints, especially in children whose secondary ossification centers have not yet undergone calcification processes. The use of ultrasound for evaluation of joint injuries avoids the shortcomings of ionizing radiation, contralateral joints can be examined for comparison, and functional dynamic studies can be obtained easily.

Age Factors↗

PubMed2002

[Ultrasonography in trauma].

The aim of this paper is to report on the possibilities of ultrasonography of the musculoskeletal system following traumatic injuries. Subsequent to clinical and radiologic examination, ultrasonography is able to confirm the primary diagnosis by dynamic comparison with a minimal expenditure of time and costs. The size, extent, and anatomic topography of tissue lesions are depicted. This paper focuses especially on the diagnosis of fluid within joints and soft tissues, the identification of foreign bodies, the diagnosis and follow-up of fractures, the diagnosis of infections (possibility of sonographically guided puncture), and musculotendinous injuries. Furthermore, the use of ultrasonography for the evaluation of postoperative pain and complications, the preoperative planning of metal removals, and its performance during spinal surgery are discussed. This paper deals with indications and technical tips for sonography as well as methodological limitations and sources of error in the evaluation of ultrasonographic findings.

Adult↗

PubMed2002

[Ultrasound diagnosis in shoulder trauma].

In cases of injuries to the shoulder region, ultrasonography is an ideal supplement to clinical and radiologic examination, including dynamic functional evaluation. The advantages of the method in children and adults are mainly the reduction of conventional radiographs and thus a minimum exposure to radiation. Despite the growing experience of clinicians and the development of high-resolution sonographic technology, primary conventional radiology cannot be dispensed with. Moreover, sonographic examination is rather time-consuming. Evaluation of the subacromial space and the glenohumeral joint itself is impossible in adults, and diagnosis of lesions to the labrum and the articular capsule requires a great deal of experience on the part of the clinician. Ultrasonography has gained increasing importance in the evaluation and follow-up of shoulder trauma in adults and children.

Adult↗

PubMed2002

[Ultrasound diagnosis in hip trauma].

The Question is: What are the indications for ultrasonography of the hip joint following trauma, except the investigation in children, and in which cases does ultrasonography provide a useful improvement within the diagnostic cascade? Considering the limitations in evaluation of boney structures and also soft tissues (due to anatomic topography) and if CT and MRI is not available, the moin indications are: Suspected soft tissue lesions (articular effusion, bursitis, muscle tears etc.) and vascular disorders (deep venous thromboses, vascular tears and occlusions). Both in preoperative planning and in postoperative follow up, ultrasonography provides useful information (e.g. after shunt surgery or as a screening method for venous thrombosis). There is also tho option for sonographically guide punction, drainage or even treatment (e.g. block anaesthesia). Performed by an experienced clinician, ultrasonography of the hip joint has a lot of indications to gain quick information. Using this non-invasive technique, demanding and invasive diagnostic investigations (for example phlebography) may even by saved.

Adult↗

PubMed2002

Groin exploration for nonpalpable testes: laparoscopic approach.

PURPOSE: Diagnostic laparoscopy (DL) is the technique of choice for exploration of nonpalpable testes (NPT). Nevertheless, groin exploration is necessary to evaluate the cord and gonadal structures entering the internal ring. This retrospective analysis evaluates our hypothesis that hypoplastic cord structures entering the internal ring predicts absence of a viable testicle and a laparoscopic groin exploration in these cases can reduce the number of unnecessarily performed open groin exploration (OGE). MATERIALS: A retrospective review was performed of 23 boys with 26 NPTs who were operated on from June 1998 to October 2000 to evaluate our protocol for NPT using DL and OGE. RESULTS: Of 26 NPTs in 23 boys, 3 bilateral intraabdominal testis were detected (2 Fowler Stephens; 1 standard orchidopexy). Twenty cord structures entered the internal ring. Three appeared normal at DL with a viable testis followed by an orchidopexy. Seventeen were hypoplastic without patent processus. During LGE no viable testis was detected: blind-ending cords, no biopsy (n = 4); testicular regression syndromes (n = 3), early fetal regression (n = 6), no residual testicular structures (n = 4). CONCLUSIONS: This experience confirms the authors' hypothesis and criteria for LGE in all cases. The authors conclude that LGE is a helpful tool in the diagnostic workup of NPT to avoid unnecessary OGE and is a further step in the minimally invasive approach to all kinds of findings of NPT.

Adolescent↗

PubMed2002

[Ultrasonographic imaging of pneumarthrosis of the knee joint--case report and experimental cadaver study].

In case of penetrating injuries near to the knee joint showing only a small skin lesion and no damage to tendons and neuro-vascular structures, opening of the joint cavity has to be taken into consideration. Besides surgical revision of the penetration canal, radiological depiction of free intraarticular air may be useful. We report the cases of two patients, who suffered from intraarticular effusion and pain two, respectively three days after a penetrating injury. In both of them, free intraarticular air in the suprapatellar region could be depicted by ultrasonographic assessment. Subsequent evaluation of radiographs showed intraarticular air already being there at the day of admittance. Performing an experimental study in fifteen cadaver knee joint specimens, the reliability of this technique was evaluated and documented. Using an injection needle, air was insufflated into the knee joints with or without previous instillation of fluid. Afterwards sonographic assessment was performed using 7,5 - 13 MHz linear probes and Siemens (Elegra) equipment. Ultrasonographic detection of pneumarthrosis of the knee joint was possible early and reliably in both of the patients reported. With sufficient experience of the clinician and adequate equipment, even singular intraarticular air blisters are detectable, especially in cases of concomitant intraarticular effusion. By ultrasound it was possible to detect pneumarthrosis with at least 0,5 ml, by X-ray with at least 2 ml. Ultrasonography proved to be a reliable diagnostic tool for the detection of free intraarticular air within the knee joint. This fact should be considered in the differential diagnosis of unclear knee joint disorders after penetrating injuries.

Adult↗

PubMed2002

[Growth prognosis after para-epiphyseal tangential epiphysial injuries of the lower extremity exemplified by the distal femur: outcome after injuries of epiphyses of the distal femur].

Fractures of the distal end of the femur are rare. Premature partial closure of the physis may occur after metaphyseal fractures. After epiphyseal fractures it has a high incidence of occurrence. The cause of physeal arrest is not known. Stimulation of the physes ends in leg length discrepancy and was seen in 50% of all cases. Spontaneous correction of an axis deviation is possible after antecurvation up to an age of 5 years. But this should be only accepted during therapy of metaphyseal fractures of the distal femur. Side-to-Side deviations remodel in all cases. Aim of therapy in distal epiphyseal fractures should be an anatomical reduction and a definitive retention. Screw osteosynthesis seems to have an advantage.

Adolescent↗

PubMed2001

[Ultrasound anatomy of the shoulder joint during the growth period].

AIM OF STUDY: It is the aim of this investigation to describe the normal ultrasonographical appearance of the glenohumeral joint in childhood. METHODS: Ultrasound investigation was performed in 20 healthy children aged between 6 weeks and 19 years (median: 6 years) using 12 MHz linear probes. A dynamic examination of both shoulders was carried out. Probe positions according to standard planes were used, and attention was paid to visualise the growth regions. RESULTS: Ultrasound images of the periarticular soft tissue in children do not differ markedly from those in adults. However, there are basic structural differences of the epiphyseal and apophyseal regions. In the newborn period the proximal humeral epiphysis mainly consists of cartilage and changes to the adult shape after the appearance of three secondary ossification centers and growth plates. Interestingly, the chondral buds of the acromion or coracoid process offer additional imaging facilities for ultrasound examination in children. CONCLUSIONS: Ultrasound examination of the glenohumeral joint in children offers a more precise evaluation when compared to adults, due to the presence of additional ultrasonographical "windows" and depiction of parts of the humeral epiphysis. This imaging technique is well tolerated by children.

Adolescent↗

PubMed2001

[The distal radius and surrounding soft tissues--ultrasound anatomy and ultrasound pathology in the adult and child].

BACKGROUND: The aim of the study was to evaluate the ultrasonographic anatomy of the distal forearm (i.e. distal radius and surrounding soft tissue) and the typical changes occurring during growth, in adults and children. MATERIAL AND METHODS: The ultrasonographic anatomy was evaluated in 10 healthy adults aged between 20 and 60 years, and 20 healthy children aged between 2 and 18 years. Particular attention was paid to dynamic examination comparing both limbs, and isolated investigations of functional tendon. RESULTS: An anatomical description of the tissues of the distal forearm was possible at all ages. During growth, secondary ossification centres and the transitional osteochondral region of the growth plate need particular consideration. DISCUSSION AND CONCLUSION: Both in children and adults, ultrasonography can provide valuable information in the evaluation of acute trauma, follow-up of fractures and osteosynthesis, suspected osteomyelitis and chronic disorders. In children, special attention must be paid to the development of the epiphyseal region, as reflected by ossification centre, growth plate and articular cartilage.

Adolescent↗