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Biomedical subjects

C Opitz

Publications and source records attributed to C Opitz.

At least 19 recordsLinked to original sources
PubMed2005

[Pulmonary hypertension in hereditary haemorrhagic teleangiectasia (Rendu-Osler-Weber disease). Progression over 10 years].

HISTORY: 10 years ago a now 49-year-old woman with Render-Osler-Weber disease showed unspecific symptoms of nausea, and general unwellness. Pulmonary manifestation of the disease was accompanied by pulmonary hypertension. INVESTIGATION: Teleangiectasia of the tongue and pharynx as well as of the mucosa of mouth and nose were observed. Fixed-splitting of the second heart sound with accentuated pulmonary component and a 2/6 systolic murmur over the tricuspid valve were heard. In addition, a murmur was heard dorsal over the right lung's lower lobe. Apart from minor oedema of both ankles, the physical status was not remarkable. Echocardiography showed dilatation of the right ventricle and a minor regurgitation of the tricuspid valve. The computed tomography showed dilatation of the pulmonary arteries as well as an arteriovenous malformation in the right lower lobe. Right-heart catheterisation revealed elevated pulmonary pressure. THERAPY AND FOLLOW-UP: Initial treatment with a calcium channel blocker proved insufficient and was changed to inhalative, and later to oral prostanoids. Under this treatment the cardiopulmonary state was stabilised, but episodes of epistaxis were increased. Two years after readjustment of the medication to a dual endothelin receptor antagonist, the cardiopulmonary state remains stable without significant haemorrhagic complications. CONCLUSION: Prostanoid treatment in patients with Render-Osler-Weber disease and additional pulmonary hypertension can lead to an increased risk of haemorrhagic complications. Treatment with newer medications, such as endothelin receptor antagonists, seems indicated as successfully illustrated in our case.

Anticoagulants↗
PubMed2004

[Pulmonary function testing before ablative methods].

Laser-induced thermotherapy (LITT) and radiofrequency thermoablation (RFTA) are increasingly used for pulmonary interventions. Primarily patients with severe functional limitations precluding a surgical approach are selected for these procedures. In this patient group a valid preinterventional risk assessment is of paramount importance. The occurrence of a pneumothorax is one of the most important complications associated with these procedures. Therefore, the functional capacity and pulmonary reserve of these patients should allow for at least short periods of lung collapse. The periinterventional risk of these patients can be estimated from basic lung function studies when certain comorbidities are excluded.

Carbon Dioxide↗
PubMed2003

[Clinical and molecular genetic observations on families with cherubism over three generations].

BACKGROUND: Cherubism is a rare fibro-osseous disorder that almost exclusively affects the maxilla and mandible. CASE REPORT: We report on three affected males in three generations in family A, and ten affected patients in family B. The youngest affected relative in family A also had craniosynostosis. His father and grandfather had cherubism and clubbed fingers. RESULTS AND DISCUSSION: Cherubism was mapped to region 4p16.3. Because of the associated craniosynostosis, we excluded the FGFR3 gene as a candidate gene for cherubism. The inheritance pattern is autosomal dominant with variable expression. The penetrance is 100% in males and 50-70% in females. We found incomplete penetrance in males, which does not conform with all publications.

Adolescent↗
PubMed2001

Torsades de pointes caused by Mibefradil.

We report a case of symptomatic Torsades de pointes due to QTc prolongation by Mibefradil, which potentially explains unexpected deaths related to this drug. Multiple episodes of Torsades de pointes were documented in a 76-year-old woman with significant QTc prolongation of 0.53 s. After discontinuation of Mibefradil QTc intervals normalized and no further ventricular tachyarrythmias were observed. We conclude that Mibefradil can cause QTc prolongation and life threatening ventricular dysrhythmias.

Aged↗
PubMed2000

Craniosynostosis in cherubism.

Cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16. Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism.

Adult↗
PubMed2000

Impairment of ventilatory efficiency in heart failure: prognostic impact.

BACKGROUND: Impairment of ventilatory efficiency in congestive heart failure (CHF) correlates well with symptomatology and contributes importantly to dyspnea. METHODS AND RESULTS: We investigated 142 CHF patients (mean NYHA class, 2.6; mean maximum oxygen consumption [VO(2)max], 15.3 mL O(2) x kg(-1) x min(-1); mean left ventricular ejection fraction [LVEF], 27%). Patients were compared with 101 healthy control subjects. Cardiopulmonary exercise testing was performed, and ventilatory efficiency was defined as the slope of the linear relationship of V(CO(2)) and ventilation (VE). Results are presented in percent of age- and sex-adjusted mean values. Forty-four events (37 deaths and 7 instances of heart transplantation, cardiomyoplasty, or left ventricular assist device implantation) occurred. Among VO(2)max, NYHA class, LVEF, total lung capacity, and age, the most powerful predictor of event-free survival was the VE versus V(CO(2)) slope; patients with a slope </=130% of age- and sex-adjusted normal values had a significantly better 1-year event-free survival (88.3%) than patients with a slope >130% (54.7%; P<0.001). CONCLUSIONS: The VE versus V(CO(2)) slope is an excellent prognostic parameter. It is easier to obtain than parameters of maximal exercise capacity and is of higher prognostic importance than VO(2)max.

Adult↗
PubMed2000

Investigations on the palatal rugae pattern in cleft patients. Part I: A morphological analysis.

The characteristics of the palatal rugae zone (number of rugae, relief type, posterior limitation) were investigated on the maxillary casts of 44 patients with unilateral cleft lip and palate and 28 patients with bilateral clefts by means of reflex microscopy, a three-dimensional, computer-assisted, touch-free measuring system for the metrical registration and analysis of the parameters directly on the maxillary casts for the segments of the 2 cleft groups. The features "number of palatal rugae" and "relief type" (primary rugae) were determined both before and after surgical repair of the cleft palate. Both segments in unilateral cleft lip and palate and both lateral segments in bilateral clefts most commonly had 4 to 5 palatal rugae. The number of rugae in cleft patients is thus in a range that other authors have reported for non-cleft individuals. Following palatal cleft repair, the rugae counts per segment decreased significantly in patients with unilateral and bilateral cleft lip and palate but the 3rd rugae was never lost after surgery. The relief type identified in unilateral and bilateral cleft lip and palate was the same as in isolated cleft palates and did not differ from that in non-cleft subjects. The posterior limitation of the palatal rugae zone was determined both in a tooth-defined manner and as an absolute linear distance (at all time points). The most frequent tooth-defined posterior limitation of the rugae zone in unilateral and bilateral clefts was the second deciduous molar, which is also the position identified for non-cleft individuals. The linear distance from the tuberosity line to the rugae zone increased in all segments of unilateral and bilateral clefts during the interval up to palatal cleft repair, indicating sagittal maxillary development in the posterior area of the palate. Surgical repair of the cleft palate resulted in a significant shortening of the distance in both segments of the unilateral cleft, most likely due to the displacement of mucosa and periosteum required to cover the palatal cleft.

Chi-Square Distribution↗
PubMed2000

Investigations on the palatal rugae pattern in cleft patients. Part II: Changes in the distances from the palatal rugae to maxillary points.

The study investigated the relationship of the palatal rugae to points and distances of the cleft palate during the time period from birth to early mixed dentition in subjects with unilateral and bilateral cleft lip and palate by means of a three-dimensional measuring system. The changes identified in the distances from the lateral palatal rugae points of the first and third rugae to the incisal point, the canine point and the tuberosity line made it possible to assess how growth and the various forms of therapy applied affected the position of the palatal rugae during the study period (from birth to early mixed dentition). Changes in the linear distances from the palatal rugae to the maxillary measuring points were identified during preoperative therapy, after lip surgery, and after palate surgery. A comparison of the distances from the palatal rugae with distances between equivalent points (incisal point-canine point, canine point-tuberosity line, canine point-canine point) revealed differences in some instances. The results suggest that the palatal rugae in combination with measuring points of the cleft palate can serve to depict the changes occurring in the anterior palate during various stages of therapy and growth.

Cephalometry↗
PubMed2000

Nager syndrome. Problems and possibilities of therapy.

The congenital Nager acrofacial dysostosis syndrome is presented, and possibilities and problems in the treatment of these patients are described. A case study of a patient who has been followed from birth to adulthood illustrates the surgical/orthodontic course of treatment and its limits.

Abnormalities, Multiple↗
PubMed2000

[Iloprost as inhalational and intravenous long-term treatment of patients with primary pulmonary hypertension. Register of the Berlin Study Group for Pulmonary Hypertension]].

Follow-up data for 81 consecutive patients with primary pulmonary hypertension (PPH) and pulmonary hypertension related to connective tissue diseases or liver cirrhosis, entered into a multicenter registry in Berlin between 1/96 and 11/99, are described. At entry into the registry the diagnosis of PPH was known for 22 +/- 32 months. Hemodynamically, these patients were characterized by a right atrial pressure of 8.6 +/- 5 mmHg, a mean pulmonary arterial pressure of 58.9 +/- 17 mmHg, a cardiac index of 1.8 +/- 0.6 l/min/m2 and a pulmonary vascular resistance of 1574 +/- 787 dyn x s x cm-5. In about one third of the patients, a restrictive and/or obstructive pulmonary physiology was found while the majority showed signs compatible with small airway disease. Furthermore, diffusion abnormalities were found in about 65% of the patients. When added to conventional medical therapy the treatment with inhaled or continuously infused prostanoids represents a major improvement in the treatment of patients with PPH. Aerosolized iloprost therapy was started in 51 patients and was continued for 12 and 24 months in 20 and 6 patients, respectively. This therapy was well tolerated without any significant changes in pulmonary function or signs of toxicity. About 25% of these patients had to be switched to continuous intravenous therapy due to progressive clinical and hemodynamic deterioration. About two thirds of these "rescue patients" could be stabilized on intravenous therapy and discharged from the hospital. Based on the currently available evidence, the continuous infusion of prostanoids represents an important part of the standard therapy in the treatment of patients with PPH. These first long-term data on inhaled iloprost therapy in this patient group illustrate the potential value of this well-tolerated and effective treatment within the concept of a differentiated treatment plan for patients with PPH. However, the true importance of prostanoid inhalation in comparison to continuous intravenous therapy in PPH remains to be determined in randomized controlled trials.

Administration, Inhalation↗
PubMed2000

[Variable expression of lower lip fistulas in Van der Woude syndrome].

Eight families with the combination of cleft lip and/or cleft palate plus lower lip pits including their microforms were examined with the aim of characterization of microsymptoms. Hypodontia as a further symptom was also taken into consideration. Each of the symptoms was also noted separately in relatives of the patients and are to be considered as a genetic equivalent of the complete form of the autosomal-dominant inherited Van der Woude's syndrome. Knowledge of the variable expression of the basic gene is crucial for risk assessment in family counselling and also for distinguishing from clefts of other genesis with lower recurrence risk.

Adult↗
PubMed2000

Overlap integrals with g-orbitals

Formulae are derived for the overlap integrals between s-, p-, d-, f- or g-orbitals at one centre and g-orbitals at the other one for any position of the two centres in the three dimensional space.

Journal Article↗
PubMed1999

Structural changes of dental enamel in both dentitions of cleft lip and palate patients.

The aim of this study was to register the incidence, the location and the character of structural changes in dental morphology in cleft lip and palate patients and to examine the connection between defects of dental enamel and the development of clefts. Twenty-two children and adolescents from a cross-section study carried out in 1987/89 with cleft lip and palate patients could be covered in a second study (longitudinal study). The frequency, the extent and the location of changes of dental hard tissues in both dentitions were assessed in the form of a static and a dynamic examination. Dental enamel anomalies were found in all patients, with opacities of cleft-adjacent incisors being the dominating form of classified defects in both dentitions. In 20 of the 22 examined patients, dental enamel dysplasia was found both in the primary and in the secondary dentition. The intraindividual comparison of the maxillary teeth in both dentitions showed that 19 patients had at least 1 permanent tooth retaining the structural changes in the dental enamel. The location of the defect and the fact that both dentitions were involved reflect the moment of effectiveness of pathogenetic stimuli. Consequently this can be interpreted as the outcome of corresponding pathomechanisms both for disorders of the dental structure and for the development of the primary palate.

Adolescent↗
PubMed1999

Radiographic evaluation of the transplant bone height in patients with clefts of the lip/alveolus/palate after secondary bone grafting.

After secondary osteoplasty radiographic assessment was carried out on 101 patients with cleft lip, jaw and palate (CLP) with 129 uni- and bilateral clefts. The bone formation in the grafted area was assessed on dental radiographs taken 2.9 years on average after secondary osteoplasty. Patients were assigned to 4 groups (Types I to IV) with Types I and II being rated as a success. The purpose of the study was to compare the results in terms of the patients' age at time of surgery, presence or absence of the lateral incisors and prosthetic or orthodontic space closure. The best results in grafted bone height were observed among 6- to 9-year-olds and when the space in the dental arch had been closed orthodontically. If even hypoplastic lateral incisors were preserved, growth into the grafted area could be observed, resulting in successful bone formation of Types I and II. Space due to missing lateral incisors could best be orthodontically closed in the youngest age group and resulted in favorable septal height. The results obtained for the over 14-year-olds were least satisfactory. A reduced septal height was observed and space closure had to be obtained most frequently by prosthetic means.

Adolescent↗
PubMed1999

[Myocardial ischemia caused by ICD electrodes?].

We report on a 65 year old man, in whom an ICD was implanted. Seven months later we found a remarkable close relation between the tip of the ICD electrode and the distal part of the left anterior descending artery (LAD). LAD seems to be compressed from electrode during systole. This is possibly the cause of an ischemia in myocardial scintigraphy.

Aged↗
PubMed1999

Beware of the heart: the multiple picture of cardiac involvement in myositis.

A 42-yr-old woman with dermatomyositis had two myocardial infarctions, episodes of acute chest pain and an acute lung oedema. These events were initially misinterpreted as atherosclerotic ischaemic heart disease accompanying the autoimmune disease. The lack of improvement of cardiac symptoms with anti-ischaemic and immunosuppressive drugs indicated other mechanisms. Intracoronary drug provocation as well as myocardial biopsy revealed a coincidence of small-vessel disease and vasospastic angina as a cause for the severe cardiac symptoms. After initiating therapy with high doses of calcium channel blockers, marked improvement of cardiac symptoms occurred. In the pathogenesis of cardiac involvement in dermatomyositis, two different mechanisms should be considered: inflammatory processes due to dermatomyositis and vasoconstriction caused by an impaired regulation of vascular tone, such as abnormal vessel reactivity or disturbed neuropeptide release. Signs of this generalized vasopathy are Raynaud's phenomenon, Prinzmetal's angina and small-vessel disease, which can coincide. In patients with severe cardiac symptoms and autoimmune diseases, Prinzmetal's angina should be excluded by intracoronary drug provocation using acetylcholine.

Angina Pectoris, Variant↗
PubMed1998

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

Adolescent↗