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Biomedical subjects

C A Haenggeli

Publications and source records attributed to C A Haenggeli.

At least 19 recordsLinked to original sources
PubMed2004

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnormal bone marrow, osteopenia, and sclerosis with a tendency to fractures, a mixed cerebellar and extrapyramidal movement disorder, infrequent epileptic seizures, leukodystrophic changes, and postnatal growth failure. Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. Since our original publication a number of other authors have described, frequently as a "new" syndrome, cases with a variable combination of the same features observed in our patients. We review this literature and suggest that the phenotypic overlap with dyskeratosis congenita may provide a clue to the molecular aetiology of this multisystem disorder.

Alopecia↗
PubMed2000

T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts.

Mechanisms underlying Ca(2+) signaling during human myoblast terminal differentiation were studied using cell cultures. We found that T-type Ca(2+) channels (T-channels) are expressed in myoblasts just before fusion. Their inhibition by amiloride or Ni(2+) suppresses fusion and prevents an intracellular Ca(2+) concentration increase normally observed at the onset of fusion. The use of antisense oligonucleotides indicates that the functional T-channels are formed by alpha1H subunits. At hyperpolarized potentials, these channels allow a window current sufficient to increase [Ca(2+)](i). As hyperpolarization is a prerequisite to myoblast fusion, we conclude that the Ca(2+) signal required for fusion is produced when the resting potential enters the T-channel window. A similar mechanism could operate in other cell types of which differentiation implicates membrane hyperpolarization.

Calcium↗
PubMed2000

Early fatal pontocerebellar hypoplasia in premature twin sisters.

We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.

Brain Diseases↗
PubMed2000

[Value of positron emission tomography with 18-fluorodeoxyglucose (FDG-PET) in early detection of residual tumor in oro-pharyngeal-laryngeal carcinoma].

OBJECTIVE: To evaluate and compare the performances of FDG-PET imaging, MRI and clinical examination in the detection of residual tumour 3 months after treatment of patients with head and neck squamous cell carcinoma. PATIENTS: A consecutive sample of 50 patients with squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx or larynx, or a cervical lymph node metastasis from an unknown primary site excluding T1 lip and T1 vocal cord tumours. METHODS: Treatment outcome was assessed after 3 months by clinical examination, MRI, and FDG-PET scan. Sensitivity, specificity and accuracy were calculated relative to proven biopsy of residual tumour or a clinical follow-up of 4 months. RESULTS: Residual cancer was confirmed in 8 patients (16%), while the clinical follow-up was unsuspicious in the remaining 42 patients. PET-FDG had a sensitivity of 100% as compared to MRI (88%) and clinical examination (63%). Specificity was higher for clinical examination (90%), intermediate for MRI (83%) and lowest for PET-FDG (74%). CONCLUSIONS: This study finds very high sensitivity for PET-FDG in the detection of residual tumour. However, its lower specificity, lack of anatomical resolution, and high cost, require further studies to determine its role in routine screening.

Biopsy↗
PubMed2000

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.

Multi-minicore disease (MmD) is a congenital myopathy morphologically defined by the presence of multiple small zones of sarcomeric disorganization and lack of oxidative activity ("minicores") in muscle fibers. The dinical expression of MmD is considered to be greatly variable, and the morphological lesions are nonspecific; therefore, its boundaries are poorly defined, and its molecular bases are not known. To better define the phenotypic characteristics of MmD, we analyzed a large series of 38 patients with multiple minicores in muscle fibers in the absence of any other potential cause. According to clinical features, 4 subgroups were identified. Most patients (30 cases) shared a common highly consistent phenotype marked by the axial predominance of muscle weakness and a high occurrence of severe respiratory insufficiency and scoliosis ("classical" form). Other forms were characterized by pharyngolaryngeal involvement and total lack of head control (2 cases), antenatal onset with arthrogryposis (3 cases), and slowly progressive weakness with marked hand amyotrophy (3 cases). Type 1 fiber predominance and hypotrophy as well as centrally located nuclei were found in every subgroup. MmD is thus phenotypically heterogeneous, but a typical recognizable phenotype does exist. This phenotype classification should be helpful when undertaking research into the molecular defects that cause MmD.

Biopsy↗
PubMed2000

Direct comparison of F-18-FDG PET and ultrasound in the follow-up of patients with squamous cell cancer of the head and neck.

AIM: The objective of this study was to compare screening ultrasound (US) obtained in patients with squamous cell carcinoma of the head and neck with F-18-FDG PET and to evaluate if US obtained before F-18-FDG PET has the potential to enhance patient management by the detection of additional lesions. METHOD: 28 patients were prospectively included in the study (7 females and 21 males; range: 28-82 years). All had one follow-up examination after surgical treatment and/or radiotherapy using a combination of US and F-18-FDG PET on the same day (6-35 months after the end of treatment). Outcome was determined by either biopsyproven cancer recurrence or negative clinical follow-up for additional 6 months after this examination. RESULTS: Regarding only the regions of the neck evaluated with both methods, US detected 25 suspect lesions vs. 9 lesions detected by F-18-FDG PET. Descriptive statistical analysis showed better sensitivity, specificity and accuracy of F-18-FDG PET. Only in 3 patients a lesion was detected in the same anatomical region using both methods. One patient was false positive with both methods. In another patient US detected a calcified right carotid artery plaque that lead to surgical therapy. CONCLUSION: F-18-FDG PET is better for the detection of clinically relevant lesions in the follow-up of patients with squamous cell carcinoma of the head and neck. In this study, the additional value of morphological information obtained by screening US performed before the PET scan is limited. US may not be a suitable test to improve interpretation of PET examinations.

Adult↗
PubMed1999

Plant-induced seizures: reappearance of an old problem.

Several plant-derived essential oils have been known for over a century to have epileptogenic properties. We report three healthy patients, two adults and one child, who suffered from an isolated generalized tonic-clonic seizure and a generalized tonic status, respectively, related to the absorption of several of these oils for therapeutic purposes. No other cause of epilepsy was found, and outcome was good in the two adult cases, but the course has been less favorable in the child. A survey of the literature shows essential oils of 11 plants to be powerful convulsants (eucalyptus, fennel, hyssop, pennyroyal, rosemary, sage, savin, tansy, thuja, turpentine, and wormwood) due to their content of highly reactive monoterpene ketones, such as camphor, pinocamphone, thujone, cineole, pulegone, sabinylacetate, and fenchone. Our three cases strongly support the concept of plant-related toxic seizure. Nowadays the wide use of these compounds in certain unconventional medicines makes this severe complication again possible.

Epilepsy, Tonic-Clonic↗
PubMed1998

Non-invasive epileptic focus localization using EEG-triggered functional MRI and electromagnetic tomography.

We present a new approach for non-invasive localization of focal epileptogenic discharges in patients considered for surgical treatment. EEG-triggered functional MR imaging (fMRI) and 3D EEG source localization were combined to map the primary electrical source with high spatial resolution. The method is illustrated by the case of a patient with medically intractable frontal lobe epilepsy. EEG obtained in the MRI system allowed triggering of the fMRI acquisition by the patient's habitual epileptogenic discharges. fMRI revealed multiple areas of signal enhancement. Three-dimensional EEG source localization identified the same active areas and provided evidence of onset in the left frontal lobe. Subsequent electrocorticography from subdural electrodes confirmed spike and seizure onset over this region. This approach, i.e. the combination of EEG-triggered fMRI and 3D EEG source analysis, represents a promising additional tool for presurgical epilepsy evaluation allowing precise non-invasive identification of the epileptic foci.

Adolescent↗
PubMed1998

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based on these sequences, oligonucleotide primers were designed to amplify the coding region of each exon separately. By PCR-SSCP analysis, we identified eight new mutations in nine families originating from various countries. All induced a premature truncation of the protein, either in the short arm or in the globular C-terminal domain. A 2 bp deletion in exon 13, 2098delAG, was found in three French non-consanguineous families and a nonsense mutation of exon 20, Cys967stop, in two other non-consanguineous families originating from Italy. Determination of rare intragenic polymorphisms permitted us to show evidence of founder effects for these two mutations suggesting a remote degree of consanguinity between the families. Other, more frequent polymorphisms, G to A 1905 (exon 12), A to G 2848 (exon 19), A to G 5551 (exon 37), and G to A 6286 (exon 42), were used as intragenic markers for prenatal diagnosis. This study provides valuable methods for determining the molecular defects in LAMA2 causing merosin deficient congenital muscular dystrophy.

Child↗
PubMed1996

Contribution of a non-inactivating potassium current to the resting membrane potential of fusion-competent human myoblasts.

1. Using the patch-clamp technique, a new non-inactivating voltage-gated potassium current, IK(ni), was studied in cultured fusion-competent human myoblasts. 2. IK(ni) is activated at voltages above -50 mV and its conductance reaches its maximum around +50 mV. Once activated, the current remains at a steady level for minutes. 3. Reversal potential measurements at various extracellular potassium concentrations indicate that potassium ions are the major charge carriers of IK(ni). 4. IK(ni) is insensitive to potassium channel blockers such as charybdotoxin, dendrotoxins, mast cell degranulating (MCD) peptide, 4-aminopyridine (4-AP), 3,4-diaminopyridine (3,4-DAP) and apamin, but can be blocked by high concentrations of TEA and by Ba2+. 5. A potassium channel of small conductance (8.4 pS at +40 mV) with potential dependence and pharmacological properties corresponding to those of IK(ni) in whole-cell recording is described. 6. IK(ni) participates in the control of the resting potential of fusion-competent myoblasts, suggesting that it may play a key role in the process of myoblast fusion.

Adolescent↗
PubMed1996

Electrically induced fos-like immunoreactivity in the auditory pathway of the rat: effects of survival time, duration, and intensity of stimulation.

The goal of the present study was to establish how Fos-like immunoreactivity (FLI) elicited in the rat auditory pathway by unilateral electric stimulation of the cochlea is affected by the following experimental parameters: duration and intensity of stimulation, duration of survival time after offset of stimulation. The dense FLI found in the ipsilateral dorsal cochlear nucleus, as well as the moderate FLI found in the contralateral dorsal cochlear nucleus and in the posteroventral cochlear nucleus on both sides, were consistent after survival times ranging from 0 to 2-3 h, but they significantly decreased after longer survival times (5 and 6 h). In the same nuclei, FLI was increased even by short durations of stimulation (5 and 10 min) as compared to control rats, although FLI progressively increased for longer stimulation (20 and 45 min). In the auditory thalamus, FLI was found mainly in the peripeduncular nucleus, the dorsal and medial divisions of the medial geniculate body, whereas its ventral division was virtually devoid of immunoreactive neurons. This pattern of FLI distribution in the auditory thalamus persisted even after relatively long survival times (5 and 6 h). In both the cochlear nucleus and auditory thalamus, the density of FLI slightly increased in parallel with the intensity of stimulation. In other auditory nuclei, such as the inferior colliculus and the nucleus of the lateral lemniscus, there was no simple relation between the density of FLI and the three tested experimental parameters. Thus, the distribution and density of FLI did not vary in parallel in the various nuclei of the auditory pathway as a function of the tested experimental parameters; different patterns of FLI changes were instead observed in different auditory nuclei.

Action Potentials↗
PubMed1995

Operculum syndrome: unusual feature of herpes simplex encephalitis.

Herpes simplex encephalitis in adults and young patients carries a high mortality and morbidity. Its presentation may be nonspecific, sometimes hampering early diagnosis. Two young children are reported with herpes simplex encephalitis in whom the operculum syndrome was an outstanding feature. This syndrome is caused by focal, bilateral cortical damage to the anterior opercular regions resulting in anarthria and impairment of mastication and swallowing. After initiation of treatment with acyclovir in the early stage of the disease, the outcomes in both patients were characterized by good general recovery with persistence of deficits of speech, mastication, and swallowing, more pronounced in the patient who was comatose during the illness. Early recognition of the operculum syndrome as a presenting feature of herpes simplex encephalitis may expedite the diagnosis and thereby improve the prognosis.

Acyclovir↗
PubMed1993

Guillain-Barré syndrome following immunisation with Haemophilus influenzae type b conjugate vaccine.

The Guillain-Barré syndrome (GBS) is an immune-mediated disease often associated with viral or bacterial infections and with immunisation. IgM antibodies have been implicated as the main trigger event in GBS. So far, only four cases of GBS have been observed following immunisation with a conjugate vaccine against Haemophilus influenzae type b. We report another patient with GBS after this vaccination. We measured immunoglobulins against the H. influenzae type b polysaccharide (PRP) component of the vaccine. Surprisingly the anti-PRP IgM antibody level was markedly elevated (100 micrograms/ml) in the plasma of this patient. We speculate that an excessive anti-PRP IgM antibody response to the vaccine might be the cause of GBS.

Bacterial Vaccines↗
PubMed1991

Pyridoxine-dependent seizures, clinical and therapeutic aspects.

Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of prenatal or neonatal onset, psychomotor retardation and death in untreated patients. Treatment requires life-long supplementation with pyridoxine (vitamin B6). The underlying defect is unknown, and there is no biological marker for the disease. Clinical diagnosis is often delayed and severe neurological sequelae are common. This article summarizes both clinical and therapeutic aspects.

Female↗
PubMed1990

Two sisters with Rett syndrome.

We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.

Adolescent↗