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Biomedical subjects

D Zech

Publications and source records attributed to D Zech.

At least 19 recordsLinked to original sources
PubMed2000

Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.

Hereditary haemochromatosis (HH) is one of the most common inherited diseases among Caucasians. Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homozygous for the point mutation CYS282Tyr, while the majority of the remaining patients displays either a compound heterozygosity for the mutation CYS282Tyr and the point mutation HIS63Asp, or are homozygous for HIS63Asp. Though the disease can be treated easily, symptoms are non-specific, and onset and severity are influenced by environmental factors, and therefore the disease can remain undetected until decades of iron overload lead to irreversible damage in a variety of organs, which may result in their failure. In order to detect patients with HH, simple and cost-effective tests are needed. We have developed a rapid, automated, PCR-based test which makes use of a diagnostic restriction site in each of two amplified fragments. The test employs off-the-shelf chemistry and uses the automated detection process of an immunoassay analyzer that is available in many clinical laboratories, thus avoiding an additional investment in a more specialized PCR analyzer. Because of its low costs and easy handling, the assay is particularly suited for the routine clinical laboratories.

Aspartic Acid↗
PubMed2000

Apolipoprotein B-100: employing the electrochemiluminescence technology of the Elecsys systems for the detection of the point mutation Arg(3500)Gln.

Apolipoprotein B-100 (apo B-100) plays an essential role in lipoprotein metabolism where it is involved in the clearance of LDL particles from the bloodstream. The mutation Arg3500Gln in the apo B-100 gene impairs the binding of the LDL particles to the LDL receptor, resulting in elevated LDL-cholesterol levels in the blood which, in turn, fuel the development of premature atherosclerosis. Here we describe a rapid, automated test for the detection of the most frequent mutation in the apo B-100 gene. This PCR-based test employs electrochemiluminescence as detection technology and allows the reliable discrimination of all genotypes. The assay has been especially developed for the non-specialized routine clinical chemistry laboratory by employing an analyzer and chemistry often present in this type of labof1tory. Because of its low costs and easy handling the assay can be performed on a daily basis.

Amino Acid Substitution↗
PubMed1999

Temporal presentation of chronic cancer pain: transitory pains on admission to a multidisciplinary pain clinic.

Transitory flares of pain are well-recognized events in both untreated and treated patients suffering from chronic cancer pain. For the purpose of this survey, we refer to transitory pain (TP) as any event subjectively characterized by transience and pain intensity over a baseline pain. In Part I, TP was reported by 243 (39%) of 613 consecutive cancer pain patients. Gender, age, tumor site, stage, and therapy were not related to the presence of TP. Neuropathic baseline pain was associated with a higher prevalence of TP (P < 0.0001). TP was somatic in 39%, visceral in 22%, and neuropathic in 36% of patients. TP intensity was severe or worse in 92% of patients. Neuropathic TP was briefer and occurred more frequently than nociceptive TP. In Part II, further features of TP were surveyed in 55 patients. Patients reported spontaneous occurrence of TP (40%), a relationship to movement (36%), to the analgesic regimen (35%), to coughing (11%), and to various other factors (18%). Only half of the movement-related TP were predictable. Rescue medication was at least partially effective in 75% of patients. Change in position, rest, diversion, and physiotherapy were commonly employed to alleviate TP. This survey outlined a framework to characterize TP that may prove useful to clarify the definition, pathophysiology, and prevalence of these pains.

Adolescent↗
PubMed1997

[Myoclonus resulting from high-dose epidural and intravenous morphine infusion].

BACKGROUND: Myoclonus is a possible side effect of opioid therapy, and have been described following systemic as well as spinal application. CASE REPORT: We report the case of a patient with metastatic carcinoma of the rectum who developed myoclonus following administration of high-dose epidural combined with iv morphine. This complication occurred with maximum daily doses of 300 mg epidurally and 80 mg intravenously and disappeared completely after dose reduction. Treatment trials are presented, the pathophysiology of the myoclonus is discussed. CONCLUSION: For treatment of opioid-induced myoclonus a dose reduction or a change of the opioid should be considered as well as symptomatic treatment with benzodiazepines or baclofen.

Adult↗
PubMed1997

Transdermal fentanyl in the long-term treatment of cancer pain: a prospective study of 50 patients with advanced cancer of the gastrointestinal tract or the head and neck region.

This open prospective study evaluated the combination of initial dose titration with patient-controlled analgesia (PCA) and long-term treatment with transdermal fentanyl in 50 cancer patients requiring opioids for severe pain. The delivery rate of the first transdermal therapeutic system (TTS) was calculated from the self-administered intravenous fentanyl dose during the first 24 h. TTS were changed every 48-72 h, and a different patch size was chosen if necessary. Pain intensity (101-step numeric analog scale) and side-effects were assessed daily. The patients were treated for 66 +/- 101 days (range 3-535 days). The average delivery rate was 5.9 +/- 4.1 mg/d. Mean pain intensity decreased from initially 45 +/- 21 to 19 +/- 15 in the titration phase and 15 +/- 11 during long-term treatment. Three patients showed moderate respiratory depression. Other severe side-effects were not observed. Patient compliance and acceptance were excellent. The results suggest that intravenous PCA is useful for initial dose finding, and transdermal fentanyl is effective and safe during long-term treatment of cancer pain.

Administration, Cutaneous↗
PubMed1994

Prevalence and pattern of symptoms in patients with cancer pain: a prospective evaluation of 1635 cancer patients referred to a pain clinic.

In a prospective study, the prevalence of 15 physical symptoms and symptom groups was evaluated in 1635 cancer patients referred to a pain clinic. In addition to pain, patients suffered an average of 3.3 symptoms: insomnia (59%), anorexia (48%), constipation (33%), sweating (28%), nausea (27%), dyspnea (24%), dysphagia (20%), neuropsychiatric symptoms (20%), vomiting (20%), urinary symptoms (14%), dyspepsia (11%), paresis (10%), diarrhea (6%), pruritus (6%), and dermatological symptoms (3%). While symptom prevalence was influenced by tumor site, pain intensity, and opioid treatment, only a minor relationship was seen between symptoms and gender, age, or tumor stage. The data emphasize that it is not sufficient to simply address pain during the treatment of patients with cancer pain; a more global approach to symptom management is necessary.

Adolescent↗
PubMed1994

The use of Quincke and Whitacre 27-gauge needles in orthopedic patients: incidence of failed spinal anesthesia and postdural puncture headache.

This study examined the incidence of failed spinal anesthesia and postdural puncture headache using a 27-gauge Whitacre and a 27-gauge Quincke needle in patients undergoing elective inpatient orthopedic procedures. The overall rate of failed spinal anesthesia was 8.5% [95% confidence interval (CI) = 4.6%-12.4%] (n = 17) in the Quincke group (n = 199) and 5.5% [95% CI = 2.3%-8.7%] (n = 11) in the Whitacre group (n = 199). This difference was not statistically significant. The overall incidence of postdural puncture headache (PDPH) was 0.8%; 1.1% [95% CI = 0%-2.4%] (n = 2) in the Quincke group and 0.5% [95% CI = 0%-1.5%] (n = 1) in the Whitacre group. These differences were not statistically significant. All headaches were classified as mild and resolved spontaneously with conservative management. The mean time for withdrawal of the stylet to appearance of cerebrospinal fluid was 10.8 +/- 6.9 s in the Quincke (n = 31) and 10.7 +/- 6.8 s in the Whitacre group (n = 33). These differences were not statistically significant. Our results suggest that both needles are associated with a very low incidence of PDPH and an incidence of failed anesthesia of 5.5%-8.5%.

Adolescent↗
PubMed1994

[Pain assessment and therapy in bronchial carcinoma].

In the period from 1983-1991 133 patients (102 men, 31 women) with lung cancer were treated in our pain clinic for 8083 days. Pain was associated with tumour infiltration in 86% of patients and related to therapy in 15%. Even in 6 of 8 patients who were admitted with a diagnosis of "postthoracotomy syndrome" and in all 4 patients with "postradiation syndrome" local recurrence was diagnosed during follow-up. All 17 cases of brachial plexus lesions were caused by local tumour spread. Symptomatic treatment according to WHO guidelines resulted in good pain relief in 92% of patients and on 82% of days. The incidence of dyspnea decreased from 51% of the patients to 16%. Strong opioids were used on 56% of treatment days. Parenteral or spinal administration of opioids was necessary on 3% of days only.

Adult↗
PubMed1993

Validation of World Health Organization guidelines for pain relief in head and neck cancer. A prospective study.

In a prospective study of 167 patients with head and neck cancer, we assessed the causes and mechanisms of pain, as well as the efficacy and side effects of analgesic treatment, along World Health Organization (WHO) guidelines. The majority of patients had pain caused by cancer (83%) and/or treatment (28%), 4% had pain due to debility, and 7% had pain unrelated to cancer. Palliative antineoplastic treatment was performed in 32% of patients. Systemic analgesics were administered on 97% of a total of 8,106 treatment days, and coanalgesics or adjuvant drugs on 100%. The treatment proved to be very successful, as severe pain was experienced only during 5% of the observation period. In the absence of serious side effects, the most frequent symptoms observed were insomnia, dysphagia, anorexia, constipation, and nausea. The use of analgesic and adjuvant drugs along WHO guidelines to treat pain in head and neck cancer is highly effective and relatively safe.

Adolescent↗