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Biomedical subjects

C J Westermann

Publications and source records attributed to C J Westermann.

At least 19 recordsLinked to original sources
PubMed2001

Patent foramen ovale causing position-dependent shunting in a patient, when laying down her corset.

A 75-yr-old female presented with platypnoea and orthodeoxia, shortly after laying down an old and pinching corset. The injection of activated Haemaccel in the right cubital vene during transoesophageal echocardiography, in the upright position, revealed a direct blood flow from the superior caval vein at a patent foremen ovale, consequently opening it and causing a large right-to-left shunt which was calculated at 28.5%. In the supine position there was only a minimal opening of the patent foremen ovale with a calculated right-to-left shunt of 9.5%. The patent foremen ovale was successfully closed percutaneously with a CardioSEAL.

Aged↗
PubMed2000

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous malformations, particularly in the pulmonary circulation, are unrecognized and left untreated. In spite of the identification of two of the disease-causing genes (endoglin and ALK-1), only a clinical diagnosis of HHT can be provided for the majority of individuals. On behalf of the Scientific Advisory Board of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion. If fewer than two criteria are present, HHT is unlikely, although children of affected individuals should be considered at risk in view of age-related penetration in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years.

Humans↗
PubMed2000

Value of capillary microscopy in the diagnosis of hereditary hemorrhagic telangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disorder, leading to easily bleeding telangiectases on the skin and mucosal surfaces. The disease is associated with arteriovenous malformations in multiple organs. Potentially serious complications warrant an early diagnosis. Telangiectases are the hallmark of the disease, but may be difficult to distinguish. OBJECTIVES: To evaluate the value of capillary microscopy in the diagnosis of HHT and to compare the capillary pattern of the fingernail folds in patients with HHT and healthy persons. SETTING: Outpatient department of a general hospital. PARTICIPANTS: A random sample of 54 patients with HHT and a volunteer sample of 40 healthy persons. MAIN OUTCOME MEASURE: The difference in the capillary pattern between patients with HHT and healthy volunteers. RESULTS: Forty-five (83%) of 54 patients with HHT had giant loops between the normal capillaries in the nail fold. Two patients had only enlargement of the draining limb of the capillary. Seven patients (13%) had no vascular abnormalities in the nail fold. Seven of 9 patients with HHT but without cutaneous telangiectases had microvascular abnormalities. None of the volunteers had vascular abnormalities. The difference between both groups was significant (chi2, P<.001). CONCLUSION: Capillary microscopy can be a valuable tool in diagnosing HHT.

Adolescent↗
PubMed2000

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant bleeding disorder characterized by localized angiodysplasia. Mutations in either of two genes, endoglin or ALK-1, can cause HHT. Both genes encode putative receptors for the transforming growth factor-beta superfamily of ligands. Many mutations in each gene have been identified in HHT kindreds from around the world, and with few exceptions mutations are unique and family specific. The prevalence of HHT in the Leeward Islands of the Netherlands Antilles is possibly the highest of any geographical location. We wished to establish whether this high prevalence is due to a genetic founder effect or to multiple mutational events. HHT kindreds from the Netherlands Antilles and The Netherlands were screened for mutations in the two genes associated with HHT. Haplotype analysis of a 5-cM region on chromosome 9 flanking the endoglin gene revealed three distinct disease haplotypes in the ten Antillean families studied. Seven of these families share a splice-site mutation in exon 1 of endoglin. Two other Antillean families share a missense mutation in exon 9a of endoglin. This mutation was also found in a Dutch family that shares the same disease haplotype as the Antillean families with this mutation. Thus it appears that HHT in the Netherlands Antilles is due to a limited number of ancestral mutations in the endoglin gene, and that one of these mutations was introduced into the African slave population by a Dutch colonist. The limited scope of mutations suggests that a presymptomatic screening program for HHT would be feasible in this population.

Alleles↗
PubMed2000

Untreated idiopathic aneurysm of the pulmonary artery; long-term follow-up.

A 57-year-old man with an idiopathic aneurysm of the left pulmonary artery is presented. The aneurysm was stable over many decades. No such long-term follow-up of an idiopathic pulmonary aneurysm has been described previously. After 39 years there is no evidence of heart failure or pulmonary hypertension. Because corrective surgery has a variable outcome, and prognosis is suggested to be good in the idiopathic form of pulmonary aneurysm, no surgical correction was proposed.

Aneurysm↗
PubMed2000

Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.

OBJECT: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant vascular dysplasia with a high prevalence of cerebrovascular malformations (CVMs), mostly manifested as arteriovenous malformations (AVMs). The natural history and bleeding risk of these CVMs is unknown. The authors investigated the risk of bleeding in conjunction with clinical and radiological features in patients with HHT and proven CVMs. METHODS: Intravenous digital subtraction (DS) angiography was used to screen 196 patients with HHT for the presence of CVMs. Patients with abnormal results on DS angiography were asked to undergo a conventional cerebral angiographic study. All patients with a proven CVM were assessed by a neurologist. The bleeding risk was retrospectively and prospectively calculated for patients with AVMs only, as well as for the whole cohort of patients with CVMs. Twenty-four patients (12.2%; 16 female and eight male), aged 14 to 66 years (mean 35.4 years) with one or more CVMs were identified. Fifteen patients (62.5%) had a CVM and a pulmonary AVM. Eleven patients (45.8%) exhibited no neurological signs of their CVM; six (25%) had headache or migraine; four (16.7%) had seizures; and three (12.5%) had an intracranial hemorrhage. Twenty-two patients had at least one AVM (with a total of 28 AVMs), whereas two patients only had telangiectases. Twenty-seven AVMs were small (96%), 36% were located in eloquent areas of the brain, and 82% had superficial venous drainage. One third of the patients had multiple CVMs. The bleeding risk for patients with at least one AVM ranged from 0.41 to 0.72% per year, and for the whole cohort the range was 0.38 to 0.69% per year. Calculation of the bleeding risk as determined by lesion-years ranged from 0.36 to 0.56% per year for patients with AVMs and from 0.27 to 0.46% per year for all patients with CVMs. CONCLUSIONS: Patients with HHT have a high risk of harboring a CVM, especially in the presence of a pulmonary AVM. These CVMs are mostly low-grade AVMs (Spetzler-Martin Grade I or II), are frequently multiple, and have a lower risk of bleeding than that associated with sporadic AVMs. Female patients are more often affected than male patients. The inherent low sensitivity of DS angiography screening for CVMs may yield false negative results.

Adolescent↗
PubMed1999

Effects of formoterol in apparently poorly reversible chronic obstructive pulmonary disease.

This randomized, double-blind, placebo-controlled, crossover study was designed to investigate the effects of the long-acting beta2-adrenoreceptor agonist formoterol fumarate in 12 current or exsmokers having chronic obstructive pulmonary disease, with a mean forced expiratory volume in one second (FEV1) 47% of predicted, poorly reversible (5.1% pred) after terbutaline sulphate inhalation. After inhaling a single dose of formoterol (6 or 24 microg), or placebo via Turbuhaler, FEV1 and pulmonary function parameters measured during quiet breathing (work of breathing (WoB) and airway resistance (Raw)) were recorded over 12 h on three test days. Immediate changes in FEV1 were modest, although each dose of formoterol caused a response >12% pred within 10 min in one subject. Compared to placebo, both doses of formoterol induced a clinically and statistically relevant improvement in WoB (>25%) and Raw (>20%), which occurred within 10 min and lasted over a period of 12 h (p < or = 0.02, analysis of variance). Thus, inhaled formoterol causes long-lasting lung functional improvements in apparently poorly reversible chronic obstructive pulmonary disease. Additional lung function measurements during quiet breathing after forced expiration tests may be useful in such patients to assess beneficial effects of bronchodilators.

Administration, Inhalation↗
PubMed1998

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-beta binding protein which maps to chromosome 9q3, is the gene for HHT1. The type and location of most of the previously described mutations in the endoglin (ENG) gene suggested a dominant-negative model of receptor-complex dysfunction for the molecular basis of this disorder. In this article we describe 11 novel ENG mutations in HHT kindreds, which include missense and splice-site mutations. Two identical missense mutations in unrelated families disrupt the start codon of the gene. In addition, some frameshift and nonsense mutations lead to very low or undetectable levels of transcript from the mutant allele. These combined data suggest that the nature of most ENG mutations is to create a null (nonfunctional) allele, and that there is no requirement for the synthesis of a truncated endoglin protein in the pathogenesis of HHT.

Alleles↗
PubMed1996

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment.

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Genetic heterogeneity has been demonstrated, suggesting involvement of other transforming growth factor receptors. This might explain the variable clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with HHT should be investigated for presence of the disease.

Humans↗
PubMed1996

Results of resection of T3 non-small cell lung cancer invading the mediastinum or main bronchus.

BACKGROUND: T3 tumors can be divided into several subgroups. Surgical treatment of T3 tumors with chest wall invasion results in good survival. This study shows the results of resection of T3 non-small cell tumors located in the main bronchus or with invasion of mediastinal structures. METHODS: From 1977 through 1993, 108 patients underwent resection for primary non-small cell carcinomas located in the main bronchus or with invasion of mediastinal structures. A complete resection was performed in 70 patients (64.8%). Actuarial survival time was estimated and risk factors for late death were identified. RESULTS: Overall hospital mortality was 8.3%. All deaths followed pneumonectomy. Mean 5-year survival was 29% for all hospital survivors, 35% for patients with complete resection, and 18% for patients with incomplete resection (p = 0.03). In patients with complete resection, mean 5-year survival was 45% for N0 patients and 37% for N1 patients. There were no 5-year survivors in the group of N2 patients. The mean 5-year survival was greater (but not statistically significantly greater) in patients with tumors located in the main bronchus (40%) than in patients with tumors with invasion of mediastinal structures (25%) (p > 0.05). Histology, tumor spill, age, sex, and type of operative procedure were not significant prognostic factors. CONCLUSIONS: Patients with tumors located in the main bronchus have a better survival than patients with invasion of the mediastinal structures. Pneumonectomy increases hospital mortality. Incompleteness of resection and mediastinal lymph node involvement influence survival significantly.

Adult↗
PubMed1996

Surgical treatment of 125 patients with non-small cell lung cancer and chest wall involvement.

BACKGROUND: The optimum operative procedure for lung cancer with chest wall invasion (T3) remains controversial. In this study results of en bloc resection and extrapleural dissection are reviewed to determine survival characteristics. METHODS: Between 1977 and 1993 125 patients underwent surgery for primary non-small cell lung cancer with chest wall invasion. Patients with superior sulcus tumours, metastatic carcinomas, synchronous tumours, or recurrences were excluded. Extrapleural dissection was performed in 73 patients and en bloc resection (range 1-4 ribs) in 52. Resection was regarded as complete in 86 and incomplete in 39 patients. Actuarial survival time was estimated and risk factors for late death were identified. RESULTS: Hospital mortality was 3.2%. (n = 4). Estimated mean five year survival was 24% for all hospital survivors (n = 121), 11% for patients with incomplete resection, and 29% for patients having a complete resection. In patients who underwent complete resection mediastinal lymph node involvement and intrapleural tumour spill worsened the prognosis. Patients with adenocarcinoma had a better chance of long term survival. No relationship was found between survival and age, type of operative procedure, depth of chest wall invasion, and postoperative radiotherapy. CONCLUSIONS: Both operative procedures show reasonable survival results. Incomplete resection, mediastinal lymph node involvement, and intrapleural tumour spill adversely influence survival.

Adult↗
PubMed1996

Unusual complications after embolization of a pulmonary arteriovenous malformation.

A pulmonary arteriovenous malformation was embolized in a patient with hereditary hemorrhagic telangiectasia. Several unusual complications, including early deflation of a detachable balloon, migration of a coil, and development of severe pulmonary hypertension, occurred. Pulmonary hypertension was attributed to a coexistent left-to-right shunt caused by a large hepatic arteriovenous malformation.

Arteriovenous Malformations↗
PubMed1996

Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia?

A retrospective study of 21 patients with primary ciliary dyskinesia (PCD) was done. Thirteen had prior resection of bronchiectasis and eight had not. Information about present complaints was obtained by a questionnaire. The prevalence of present respiratory symptoms was the same in both groups. The surgical patients had more severe disease and 85% of them considered the operation beneficial. Selected patients with PCD may have improved conditions with resection of bronchiectasis.

Adult↗
PubMed1996

Epistaxis in hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) is characterized by easily bleeding telangiectases of the skin and mucosa. Epistaxis is the most common symptom of HHT. Larger arteriovenous malformations (AVM) occur in the lungs (in up to 33% of the patients), brain (in up to 11% of patients), and liver. These may cause severe complications which can be prevented by early therapy. To gain insight in the characteristics of epistaxis in HHT, 171 persons were investigated, who either had HHT or participated in a screening programme for relatives of HHT patients. Of these, 58 persons had HHT. Epistaxis without signs of HHT was present in 12 persons, whereas 10% of HHT patients did not have epistaxis. Seventeen HHT patients with epistaxis had visited an otorhinolaryngologist before, without a correct diagnosis of HHT being made. Telangiectases were most common on lips, tongue, the nasal septum, and the turbinates. In view of the prevalence of visceral AVM and the associated complications, HHT patients presenting to an otorhinolaryngologist should be encouraged to engage in a screening programme for these AVM.

Adult↗