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Biomedical subjects

J Hayek

Publications and source records attributed to J Hayek.

At least 19 recordsLinked to original sources
PubMed2007

Rett syndrome and plasma leptin levels.

OBJECTIVE: To describe in patients with Rett syndrome (classic and preserved-speech variant) plasma leptin levels and their relationship to BMI (body mass index) and age. STUDY DESIGN: Female patients (n = 48; age range 3-20 years) affected by classic Rett syndrome were enrolled into the study. Eleven female patients, age range 3 to 20 years, with preserved-speech variant Rett syndrome were included in the study. Controls were 24 healthy female subjects, age range 3 to 20 years. Blood samples (3 mL) were withdrawn from an antecubital vein in the morning; plasma leptin concentrations were detected by enzyme-linked immunosorbent assay method. RESULTS: Patients with classic Rett syndrome and preserved-speech variant had leptin values significantly higher than controls. Leptin concentrations did not significantly differ between patients with classic Rett and preserved-speech variant. Leptin values positively correlated with age and BMI. CONCLUSIONS: Because in all patients the increased leptin concentrations were not associated to obesity, we hypothesize that in patients with Rett syndrome leptin might participate to clinical manifestations other than weight balance.

Adolescent↗
PubMed2006

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.

Autistic Disorder↗
PubMed1998

Lung abcess complicating Legionella micdadei pneumonia in an adult liver transplant recipient: case report and review.

Legionella micdadei (Pittsburgh pneumonia agent) is the second most common cause of Legionella pneumonia, and occurs predominantly in immunocompromised hosts. L micdadei is the cause of nosocomial pneumonia in renal transplant recipients, but has not been described in other adult solid organ transplant recipients. This report describes the first case of L micdadei pneumonia in an adult liver transplant recipient on immunosuppressive therapy. Importantly, this case highlights the difficulties in establishing the diagnosis, as the Legionella urinary antigen is negative, and special culture conditions are required. Furthermore, this case illustrates several atypical clinical features of L micdadei pneumonia in a transplant recipient, including a community acquired mode of transmission, occurrence several years after organ transplantation, and lung abcess formation. The patient was successfully treated with limited surgical resection and quinolone antimicrobial monotherapy.

Adult↗
PubMed1997

["Whiplash" injury of the cervical spine: value of modern diagnostic imaging].

"Whiplash injuries" are frequent sequelae of motor vehicle accidents. While conventional imaging methods such as X-ray, including special and functional lateral projections, continue to be the first-choice evaluation methods, they frequently do not reveal injuries to the soft tissues. Cross-sectional methods such as CT and MRT may therefore be indicated for further workup in given clinical situations. In this paper the role of the entire spectrum of imaging methods is reviewed. Emphasis is placed on so-called functional CT, which allows detection of rotational instabilities of the upper cervical spine. These are difficult to evaluate clinically or by standard imaging studies, yet they may be a frequent cause of chronic whiplash syndrome. Furthermore, some results of morphologic studies of the alar ligaments by MRT are presented. Although experience to date is limited, it is likely that MRT of the occipitocervical junction region due to its potential to reveal exquisite anatomical detail, will gain in importance in the future.

Cervical Vertebrae↗
PubMed1994

The value of functional computed tomography in the evaluation of soft-tissue injury in the upper cervical spine.

A functional rotatory computed tomography (CT) study of 423 whiplash patients with cervical spine soft-tissue injury was undertaken to determine its diagnostic value. The results are correlated with previous CT studies on normal subjects, and an evaluation of paradox motion, in which the lower vertebra rotates more than the vertebra immediately superior to it, is given. Asymmetrical left/right rotation reached the pathological value in 36% of the patient population at the level of C0-1. Twice as many patients had hypermobile rotation to the left as compared with the right, perhaps indicating that the right alar ligament is more often damaged in injuries involving the whiplash mechanism. A higher percentage of pathological values for hypermobile rotation was found at the level of C0-1 than at C1-2. Patients exhibiting paradox rotation had a significantly higher amount of rotation to the contralateral side than did those who exhibited no paradox rotation. These findings validate the use of functional rotatory CT in the evaluation of soft-tissue damage of the upper cervical spine resulting from whiplash injury.

Adolescent↗
PubMed1991

Posterior occipitocervical fusion. A preliminary report of a new technique.

A new technique for occipitocervical fusion is described. The fixation of the upper cervical spine with plates and screws avoids the possible disadvantages of the commonly used wiring technique. By the establishment of a rigid fixation between the occiput and upper cervical spine with a combination of plates and screws, especially with transarticular atlantoaxial screw fixation, reliable, multidirectional, and immediate stability is achieved. The clinical picture and analysis of 14 patients with a variety of pathologies of the upper cervical spine is presented. The satisfactory outcome and solid bony fusion in all 14 patients and the absence of severe complications encourages the continued use of this technique of occipitocervical fusion.

Arthritis, Rheumatoid↗
PubMed1991

[Dorsal atlanto-axial screw fixation. A stability test in vitro and in vivo].

Clinical and biomechanical testing of the stability of atlantoaxial fusions was studied. For biomechanical testing, four different techniques for posterior atlantoaxial fusion were tested: (1) wire fixation with one median graft; (2) wire fixation with two bilateral grafts; (3) transarticular screw fixation and two bilateral posterior clamps. Ten fresh human cadaveric specimens were tested. The loads applied were 6 pure moments. The motion of C1 relative to C2 in the intact, injured and mechanically fixed spine were measured and compared. In flexion/extension the difference between Brooks, Magerl and Halifax were not significant, but each was significantly less than the Gallie-system. For the anterioposterior translation the stabilization of all fixation techniques was about equal. In axial rotation measuring the translations between C1 and C2, the screw-fixation technique proved to be the most stable. For lateral bending, there was no significant difference between the different techniques, except for Galliefixation, but the screw-fixation technique allowed the least motion. In additional in vivo tests ten patients with posterior atlantoaxial fusion by the transarticular screw-fixation technique underwent bending X-rays of the upper cervical spine as well as computertomograms. Solid fusion was achieved in all patients. Both investigations proved the reliability of the multidirectional stability of the atlantoaxial screw fixation technique.

Atlanto-Axial Joint↗
PubMed1989

[Long-term course in congenital analgesia].

We describe the longterm history of eight patients with congenital insensitivity to pain, a rare autosomal recessive condition. Pain perception did not significantly improve with increasing age, but all affected individuals learned to live with their handicap. A marked tendency to dissimulate was obvious. The longterm outcome was dominated by orthopedic complications: there were impressive arthropathic changes in knee and ankle joints but - to our surprise - no hip joint involvement. These changes are the result of skeletal injuries in childhood (fractures, aseptic bone necrosis, osteomyelitis) and of apparently progressive neuropathic lesions due to pain insensitivity. The latter resulted in marked lumbar spine changes with progressive neurological deterioration, so far requiring spondylodesis in three patients. In three pregnant women total absence of labour pain was observed. All affected individuals had anosmia but no deficits of autonomic nervous system functions.

Adult↗
PubMed1989

Dermal alterations in patients with Wilson's disease treated with D-penicillamine.

Wilson's disease is characterized by accumulation of copper and D-penicillamine favors its elimination. However, penicillamine binds to precursors of intermolecular crosslinks both in collagen and elastin, and could lead to alterations of these two fibrous proteins. In the present report skin biopsies from patients with Wilson's disease, treated with 900 mg/day of D-penicillamine, for 5, 9, 58 and 60 months, were studied by electron microscopy and compared with findings obtained from skin biopsies of age-matched normal subjects. Clinically, the elasticity and consistency of the skin of Wilson's patients was not modified by D-penicillamine treatment. The ultrastructural organization of collagen fibrils appeared normal in the adults treated with D-penicillamine for 5-9 months. In a 15-year-old girl, treated for 48 months, a high number of collagen fibrils were swollen and unreeved. Elastin fibers were altered in all patients. The alterations were mostly pronounced in the reticular dermis, were proportional to the time of treatment, and consisted of polymorphous aggregates of elastin connected to apparently normal elastin fibers. A stereological analysis, on EM pictures from the patient treated for 60 months, and from an age-matched control, showed a significant decrease in the percentage of collagen and of the mean area occupied by each collagen bundle in the reticular dermis of the patient compared to control; on the contrary, the number of elastin fibers per unit area increased significantly, and the mean area of each elastin fiber decreased. The volume density of elastin was similar to control. The results indicate that prolonged administration of penicillamine to humans induces alterations in the deposition of dermal collagen and elastin.

Adolescent↗
PubMed1988

[Olivopontocerebellar atrophy as an important differential diagnosis in atactic gait disorders in elderly patients].

The sporadic form of olivo-ponto-cerebellar atrophy (OPCA) is described in 5 patients. The diagnosis was confirmed by autopsy in one patient. The OPCA can be suspected from the history and symptoms if neuroradiologic examination also demonstrates atrophy of the cerebellum and pons. OPCA is a rare but important cause of a progressive gait disturbance in the elderly patient. The differential diagnosis of atactic gait is discussed.

Brain↗
PubMed1988

Functional diagnostics of the cervical spine using computer tomography.

35 healthy adults and 137 patients after cervical spine injury were examined by functional CT. The range of axial rotation at the level occiput/atlas, atlas/axis and the segment below were measured in all subjects. A rotation occiput/atlas of more than 7 degrees, and C1/C2 more than 54 degrees could indicate segmental hypermobility, a rotation at the segment C1/C2 less than 29 degrees to hypomobility. According to the postulated normal values based upon a 98% confidence level, out of 137 patients examined after cervical spine injury and with therapy-resistant neck pain, 45 showed signs of segmental hypermobility of the upper cervical spine, 17 showed hyper- or hypomobility at different levels, 10 patients presented segmental hypomobility at C1/C2 level alone. In all patients, according to the clinical assessment, functional pathology was suspected in the upper cervical spine. Surgical correction of rotary instability should be considered as a possible therapeutic procedure after successful diagnostic stabilisation of the cervical spine by minerva cast.

Adolescent↗
PubMed1987

CT-functional diagnostics of the rotatory instability of the upper cervical spine. Part 2. An evaluation on healthy adults and patients with suspected instability.

Nine healthy adults and 43 patients with cervical spine injury were examined by using functional (computerized tomography) CT scanning. The ranges of axial rotation at the levels occiput C0-C1, C1-C2, and C2-C3 were measured. A rotation at C0-C1 greater than 8 degrees; at C1-C2, 56 degrees; or a right-left difference C0-C1 greater than 5 degrees and C1-2 greater than 8 degrees indicates hypermobility. A rotation at segment C1-C2 of less than 28 degrees indicates hypomobility. Surgical stabilization of rotatory instability could be considered as a possible therapeutic procedure.

Adolescent↗
PubMed1987

[Diagnosis of hyper- and hypomotility of the upper cervical spine using functional computerized tomography].

At present, there are few methods that are of any assistance in evaluating the ligaments of the upper cervical spine. It is obvious that a lesion of these ligaments could result in instability of the cranial cervical junction. Nine healthy adults and 45 patients with suspected rotatory instability of the upper cervical spine after trauma were examined using functional CT-scans. After CT scans of the upper cervical spine had been obtained with the patient in a neutral position, the head was passively rotated to the left and right and held in these positions by adhesive tape. CT scans were performed for the left and right rotation. The range of axial rotation was measured in relation to the neutral position at the level of the occiput, atlas and axis using identical bony landmarks. A mean rotation of 4.2 degrees to the right and 3.8 degrees to the left was measured at the occiput/atlas level. The mean difference between left and right rotation in individual patients was 2 degrees. The mean rotation of C1-2 was 41.8 degrees to the right and 44.3 degrees to the left. The mean difference between left and right rotation was 2.8 degrees. A 98% confidence interval for allocating a pathological case to the distribution of healthy adults was defined. According to this rule, occiput/atlas rotation of 8 degrees or more, C1-2 rotation of 56 degrees or more, a left/right OCC/C1 difference of 5 degrees or more and a left/right C1-2 difference of 8 degrees or more were considered to be pathological.(ABSTRACT TRUNCATED AT 250 WORDS)

Atlanto-Axial Joint↗
PubMed1986

[Diagnosis of instability of the upper cervical spine by functional computed tomography].

The evaluation by means of functional x-rays, of rotatory instability of the upper cervical spine as a result traumatic or inflammatory destruction of the ligamentous apparatus, is unsatisfactory. Functional CT of the upper cervical spine allows measurement of the segmental rotatory movements. 9 healthy adults and 30 patients were examined after neck injury via functional CT's. A rotation between occiput and atlas greater than 9 degrees, between atlas and axis over 50 degrees, the left-right difference at the level C0/C1 greater than 6 degrees and at the level C1/C2 over 10.5 degrees point to a suspicion of hypermobility or instability.

Adolescent↗