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PubMed2002

Fabry disease in patients with hypertrophic cardiomyopathy (HCM).

Fabry disease is an X-linked recessive lysosomal storage disorder with variable phenotype characterized by the accumulation of glycosphingolipid in various tissues. Unlike patients with the classical systemic Fabry disease entity, who present with multiple organ involvement, patients with a cardiac variant of Fabry disease are characterized mainly by myocardial hypertrophy. Therefore, the cardiac variant of Fabry disease may be defined as a cardiomyocytic storage disorder, thus, mimicking the clinical features of hypertrophic obstructive and especially non-obstructive cardiomyopathy. In patients with unexplained left ventricular hypertrophy the diagnosis of a cardiac variant of Fabry disease is performed by light- and electron microscopic evaluation of endomyocardial catheter biopsy specimens and/or serologic investigations (decreased activity of alpha-galactosidase A in plasma or leucocytes). Several studies show that between 4% and 8% of unselected patients with the clinical features of hypertrophic non-obstructive cardiomyopathy have a cardiac variant of Fabry disease. In each patient with unexplained myocardial hypertrophy concealed myocardial storage disease, especially cardiac Fabry disease has to be considered and should be ruled out or confirmed by endomyocardial catheter biopsy. This is important because of the recently reported alpha-galactosidase A enzyme replacement therapy in Fabry disease. Randomized, multicenter studies are mandatory to test the hypothesis that enzyme replacement therapy leads to a beneficial clinical effect in the cardiac variant form of Fabry disease and may prevent the progression of the disease in asymptomatic patients.

Aged↗
PubMed2026

Copy number variants in BRCA1 and BRCA2 genes in Polish patients with breast and ovarian cancer.

PURPOSE: BRCA1 and BRCA2 are key susceptibility genes in hereditary breast and ovarian cancer (HBOC), with mutational status guiding PARP inhibitor therapy. While single-nucleotide variants (SNVs) predominate, the prevalence of copy number variants (CNVs) varies significantly across different populations. This study aims to determine the incidence of BRCA1/2 CNVs in the Polish population, where data remain scarce due to non-mandatory CNV testing. METHODS: We retrospectively analysed the results of genetic tests assessing the presence of BRCA1/2 CNVs performed in 2720 individuals tested at the Lower Silesian Oncology Centre (2021-2024), including 2702 breast/ovarian cancer patients and 18 unaffected relatives. The mean age was 54.7 ± 15.15 years. Genetic testing involved DNA extraction, NGS, and MLPA for CNV confirmation. Variants were classified according to ACMG-AMP guidelines and verified through independent testing. RESULTS: In this study, no BRCA2 CNVs were identified, consistent with previous Central European findings. Pathogenic BRCA1 CNVs were detected in 0.85% of the analyzed cohort and in 0.52% of the cancer patient subgroup, affecting 23 individuals from 13 families. Eight distinct BRCA1 CNVs were detected, the most common being exon 21 deletion. Affected families exhibited a high incidence of HBOC-related cancers, with early-onset breast cancer and a notable proportion of triple-negative breast cancer cases. CONCLUSIONS: This study highlights the clinical significance of BRCA1 CNVs in Polish patients with HBOC-spectrum cancers and their families. Although rare, these variants were associated with aggressive cancer phenotypes and early onset. Given their diagnostic and therapeutic implications, BRCA1 CNVs should be routinely analysed in high-risk families to ensure accurate detection and personalised treatment planning.

Humans↗
PubMed2005

Roadside concentration of gaseous and particulate matter pollutants and risk assessment in Dar-es-Salaam, Tanzania.

This study used manual air sampling method to assess the contribution of road traffic to air pollution level in Dar-es-Salaam City, Tanzania. Samples were collected from 11 different sites. Parameters measured were: sulphur dioxide using pararosaniline method, nitrogen dioxide using saltzman method, particulate matter and particulate lead using filtration method and atomic absorption spectrometric method, respectively. Results showed that hourly average sulphur dioxide concentration range from 127 to 1385 microg/m3. The measured values of sulphur dioxide were above the recommended WHO guidelines with an hourly objective value of 350 microg/m3 at 87% of the sampling sites. The hourly average nitrogen dioxide concentration ranged from 18 to 53 microg/m3. The maximum hourly nitrogen dioxide concentration at 53 microg/m3 was below the WHO guideline value of 200 microg/m3. The hourly average suspended particulate matter (SPM) ranged from 98 to 1161 microg/m3, exceeding the recommended value of 230 microg/m3 by WHO at 87% of the sampling sites. The hourly average lead concentration was found to range from 0.60 to 25.6 microg/m3, exceeding again the WHO guideline value of 1.5 microg/m3 at 83% of the sampling sites. Results predicted by Gaussian model when compared with the measured values were found to have a correlation coefficient of 0.8, signifying a good correlation. The risk assessment was undertaken considering the people who spend a significant portion of their time near the roads, such as the Uhuru primary school pupils and the adult population who reside by the roadside. The unit risk realised was 18.2 x 10(-6) for adult population and 2.2 x 10(-6) for pupils, both scenarios showing risk higher than the United Sates of America Environmental Protection Agency (USEPA) acceptable limit of 1 x 10(-6). Considering the magnitude of the problem at hand, this study recommends an introduction of mandatory emission tests of SPM, lead and sulphur dioxide (SO2). The study further recommends the introduction of continuous and/or regular air quality monitoring and the use non-leaded petrol in Tanzania.

Air Pollutants↗
PubMed2005

Web based provider education for competency of scope of practice (Best Practice): Medicine Department Safe training is a computer based review program (de' medri).

Medicine Department Safe training is a computer based review program named de'medici and it is an employee training program. This annual review packet serves as a generic training tool. All health-care providers with direct patient care are required by state law to complete a group of 11 modules and pass a mandatory training test to assess proficiency in these areas. They include emergency preparedness, life and fire safety, electrical safety, working safety with hazardous materials, back safety, violence in the workplace, latex allergy prevention, preventing TB in the workplace, preventing AIDS and hepatitis B and C in the workplace, radiation safety, and age related care for health-care workers.

Clinical Competence↗
PubMed2005

Diagnosis and treatment of hypopituitarism: an update.

Diagnosis and treatment of patients with hypopituitarism needs careful clinical evaluation and individual optimization. Symptoms of hypopituitarism are variable, often insidious in onset and dependent on the degree of hormone deficiency. Diagnosis of hypopituitarism can be straightforward by measuring reduced basal hormone levels. Frequently, dynamic stimulation tests are indicated in equivocal basal hormone levels or to diagnose partial hormone deficiencies. Knowledge of the use and limitations of these dynamic tests is mandatory for proper interpretation. Hormone replacement therapy should be individualized, taking into account possible interactions. Persisting symptoms and reduced quality of life are frequently reported, explained by, at least in part, intrinsic imperfections of hormone replacement strategies in mimicking normal hormone secretion. In the present overview, the principles of diagnosis and treatment of hypopituitarism are discussed.

Adrenocorticotropic Hormone↗
PubMed2005

Hypopituitarism as a consequence of brain tumours and radiotherapy.

Radiation-induced damage to the hypothalamic-pituitary (h-p) axis is associated with a wide spectrum of subtle and frank abnormalities in anterior pituitary hormones secretion. The frequency, rapidity of onset and the severity of these abnormalities correlate with the total radiation dose delivered to the h-p axis, as well as the fraction size, younger age at irradiation, prior pituitary compromise by tumour and/or surgery and the length of follow up. Whilst, the hypothalamus is the primary site of radiation-induced damage, secondary pituitary atrophy evolves with time due to impaired secretion of hypothalamic trophic factors and/or time-dependent direct radiation-induced damage. Selective radiosensitivity in the neuroendocrine axes with the GH axis being the most vulnerable to radiation damage accounts for the high frequency of GH deficiency, which usually occurs in isolation following irradiation of the h-p axis with doses less than 30 Gy. With higher radiation doses (30-50 Gy), however, the frequency of GH insufficiency substantially increases and can be as high as 50-100%, and TSH and ACTH deficiency start to occur with a long-term cumulative frequency of 3-6%. Abnormalities in gonadotrophin secretion are dose-dependent; precocious puberty can occur after radiation dose less than 30 Gy in girls only, and in both sexes equally with a radiation dose of 30-50 Gy. Gonadotrophin deficiency occurs infrequently and is usually a long-term complication following a minimum radiation dose of 30 Gy. Hyperprolactinemia, due to hypothalamic damage leading to reduced dopamine release, has been described in both sexes and all ages but is mostly seen in young women after intensive irradiation and is usually subclinical. A much higher incidence of gonadotrophin, ACTH and TSH deficiencies (30-60% after 10 years) occur after more intensive irradiation (>70 Gy) used for nasopharyngeal carcinomas and tumours of the skull base and following conventional irradiation (30-50 Gy) for pituitary tumours. Radiation-induced anterior pituitary hormone deficiencies are irreversible and progressive. Regular testing is mandatory to ensure timely diagnosis and early hormone replacement therapy to improve linear growth and prevent short stature in children cured from cancer, and in adults preserve sexual function, prevent ill health and osteoporosis and improve the quality of life.

Brain Neoplasms↗
PubMed2005

GH deficiency as the most common pituitary defect after TBI: clinical implications.

Recent studies have demonstrated that hypopituitarism, and in particular growth hormone deficiency (GHD), is common among survivors of traumatic brain injury (TBI) tested several months or years following head trauma. In addition, it has been shown that post-traumatic neuroendocrine abnormalities occur early and with high frequency. These findings may have significant implications for the recovery and rehabilitation of patients with TBI. The subjects at risk are those who have suffered moderate-to severe head trauma although mild intensity trauma may precede hypopituitarism also. Particular attention should be paid to this problem in children and adolescents. GH deficiency is very common in TBI, particularly isolated GHD. For the assessment of the GH-IGF axis in TBI patients, plasma IGF-I concentrations plus GH response to a provocative test is mandatory. Growth retardation secondary to GHD is a predominant feature of GHD after TBI in children. Clinical features of adult GHD are variable and in most obesity is present. Neuropsychological examinations of patients with TBI show that a significant portion of variables like attention, concentration, learning, memory, conceptual thinking, problem solving and language are impaired in patients with TBI. In the few case reports described, hormone replacement therapy in hormone deficient head-injured patients resulted in major neurobehavioral improvements. Improvements in mental-well being and cognitive function with GH replacement therapy in GHD adults have been reported. The effect of GH replacement in posttraumatic GHD needs to be examined in randomized controlled studies.

Adult↗
PubMed1996

[Asthma caused by food allergy].

Food allergy (FA) induced asthma is less common than FA induced atopic dermatitis, or angioedema. The incidence reaches 8.5%. Occupational asthma due to the inhalation of various food proteins is increasingly described. Egg proteins could be peculiarly at risk. In the childhood, all the kinds of foods can be incriminated. In adults, FA are predominantly due to vegetal allergens, included in the following botanical families: rosaceae, umbelliferae, and exotic fruits. Bronchi are sensitized either by inhalation of food allergens or by inhalation of cross-reactive pneumoallergens, such as pollens, feathers, latex. The fact that FA might create a bronchial hyperreactivity is controversial. Bronchial challenges induce late-phase reactions and document the acquisition of an inflammatory state. The quantity of allergens gaining access to bronchi plays a major part in the triggering of asthma. It can be modulated by variations of intestinal permeability which are related to viral infections, aspirin, alcohol, etc. The chemical characteristics of proteins, such as hydrophobicity might interfere with the passage through the gut mucosa. The diagnosis is based upon skin tests and the detection of specific IgE, identifying the state of hypersensitivity. Provocation tests are mandatory to establish FA. The pharmacological approach of the treatment is less important than the eviction insofar as the specific immunotherapy is not yet currently performed.

Adult↗
PubMed1987

Current surgical concepts for treating obstructive sleep apnea syndrome.

Obstructive sleep apnea syndrome is a relatively common disorder with potentially serious psychologic and physiologic consequences. A comprehensive method of evaluation is described. Presurgical tests are mandatory in order to logically direct surgical treatment. Current surgical treatment and new techniques are discussed.

Electrodiagnosis↗
PubMed1994

Heparin-induced thrombocytopenia and thrombosis following open heart surgery.

We recently observed five cases of early thrombus formation in patients undergoing anticoagulation with subcutaneous heparin following open heart surgery. The reasons prompting surgery were as follows: one mitral valve replacement, one double valve replacement, one mitral valve reconstruction, one aortic valve replacement associated with coronary bypass. In all cases, intravenous heparin was begun on the day of surgery and replaced by subcutaneous (SC) heparin on postoperative day 1. Acute thrombocytopenia was observed between the 6th and 11th postoperative day. This was interpreted as denoting an idiosyncratic reaction to heparin which was replaced by low molecular weight heparin (LMWH) in two cases and by acenocoumarol in the other cases. Massive thrombosis of the aortic valve resulted in the death of one patient. Thrombosis of the left atrium occurred in three patients (two of whom had a transient ischemic attack (TIA)). One patient had aorto-iliac thrombosis. Successful reoperation was carried out in four of the five patients. Although heparin-induced thrombocytopenia and thrombosis [HITT] is a rare complication of heparin therapy, serial platelet count monitoring and in vitro platelet aggregation tests are mandatory in the diagnosis of this syndrome. Discontinuation of heparin is indicated as soon as the syndrome is recognized and the institution of aspirin is recommended if the thromboembolic complication requires reoperation and reexposure to heparin.

Acenocoumarol↗
PubMed2004

Some consequences of different older driver licensing procedures in Australia.

Given both the expected growth in the number of older drivers and their over-involvement in fatal and serious injury crashes, there has been a world-wide call for improved licensing procedures to manage older driver safety. In particular, licensing authorities have been urged to move from mandatory assessment of all older drivers to assessment practices targeting only those at higher crash risk. The current study examined older driver fatal and serious injury crash involvement rates across all Australian States to determine a possible association with the different licensing procedures. In particular, older driver crash involvement rates in Victoria (where there is no age-based assessment program) have been compared with rates in other jurisdictions with assessment programs. Crash involvement rates have been calculated using two denominators: per population and per number of licensed drivers. Some data limitations notwithstanding, older drivers in jurisdictions with age-based mandatory assessment programs could not be shown to be safer than drivers in Victoria. Further, there is some indicative evidence that older drivers in Victoria may have a significantly safer record regarding overall involvement in serious casualty crashes.

Accidents, Traffic↗
PubMed2004

Experiences with a workstation prototype for softcopy reading within the Bavarian mammography recertification program: workstations and education.

RATIONALE AND OBJECTIVES: In January 2002, the Bavarian Statutory Health Care Administration ("Kassenärztliche Vereinigung Bayerns", KVB) started a recertification program for quality assurance and quality improvement in mammography reading. MATERIALS AND METHODS: All accredited radiologists and gynecologists are asked to prove their qualification every 1-2 years. The recertification program requires the physicians to read 50 cases randomly selected from a larger collection of high-quality test cases. The portion of malignant and benign cases corresponds to the requirements of the German National Association of Statutory Health Insurance Physicians ("Kassenäztliche Bundesvereinig ung", KBV). In order to perform the recertification in a manageable manner a decentralized approach (test at different locations in parallel) was preferred over a centralized one. Therefore, the X-ray films were digitized and converted to DICOM Digital Mammography format to be read on a softcopy device. To verify the applicability of digitized mammograms for recertification purposes, a comparative study with 32 trained radiologists and gynecologists was performed. RESULTS: A system of two high-resolution/high-contrast monitors (2048 X 2560 pixels, > or = 350 cd/m2) in combination with a 5 mega-pixel dual-head graphics adapter with calibrated output was chosen for the mammography workstation. The software was implemented according to the particular requirements of this program. As a result, the comparative study showed that there was no significant difference in the error rate of the reported findings between conventional film and softcopy reading. CONCLUSION: The first intermediate results of this quality initiative are promising. As of 2003, the test is mandatory for all mammography-reading physicians in Bavaria.

Breast Neoplasms↗
PubMed2004

Identifying gaps between guidelines and clinical practice in the evaluation and treatment of patients with hypertension.

PURPOSE: Hypertension remains uncontrolled in the majority of affected patients despite treatment. Our goal was to identify specific action items in the Sixth Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure (JNC VI) guidelines that are not being translated into clinical practice. METHODS: We transformed the major JNC VI tables into a chart review instrument that was used to retrospectively analyze the medical records of 249 patients with newly diagnosed hypertension who had been followed for 18 months at one of six community-based primary care clinics. RESULTS: The practices of physicians deviated from the guidelines in several ways. Hypertension was staged initially on a single blood pressure recording in 85% (n = 212) of patients. No electrocardiogram was ordered for 89% (n = 221) of patients, while other mandatory laboratory tests were ordered for about 50%. After 18 months, 40% (72/179) of patients for whom prescription records were identified were still on monotherapy, and target blood pressure (<140/90 mm Hg) was achieved in only 33% (83/249) of patients. All of the 35 patients with diabetes received an angiotensin-converting enzyme inhibitor or angiotensin receptor blocker, but only 1.7 medications were prescribed per patient at study end. CONCLUSION: In this clinic system, staging of blood pressure with multiple measurements, thorough assessment of global cardiovascular risk, and titration of multiple antihypertensive medications to achieve blood pressure goal are components of the JNC VI guidelines that are not well translated into clinical practice. Overcoming these practice defects will require innovative multilevel interventions.

Female↗
PubMed2005

Canadian experience in sacral neuromodulation.

The application of sacral nerve modulation and stimulation has gained wide acceptance asa tool to enhance the control of voiding. The simplicity of the technique has made the therapy appealing for refractory cases of voiding dysfunction. The percutaneous screening test is mandatory for the success of the therapy. Long-term follow-ups have shown efficacy and safety inpatients with voiding dysfunction. Sacral nerve modulation is an effective modality in the treatment of various voiding and storage dysfunction. The tined lead offers a minimally invasive implant procedure. The simplicity of the procedure and the patient's sensory awareness help to ensure best lead placement. Furthermore, local anesthesia instead of general anesthesia allows faster patient recovery and reduces complications. Finally, sacral neuromodulation offers a modality in the management of patients with voiding dysfunction.

Adult↗
PubMed1998

Impact from changes in Illinois drivers license renewal requirements for older drivers.

In late 1989, Illinois revised the length of license term and renewal requirements for older drivers. The term was shortened from 4 to 2 years for those ages 81-86 and 1 year for those ages 87 and up. A mandatory road test which had been required at renewal for all drivers ages 69 and over, was eliminated for those ages 69 to 74. Data are available to explore the impact of these changes on crashes, fatal crashes, crash rates, and licensure rates of senior drivers. Comparisons are made between 1987-1989 averages and 1995 for three age groups: 70-74, 75-80 (the control group that had no changes in requirements), and 81 and up. It does not appear that eliminating the road test for those ages 69 to 74 had any negative impact. On the contrary, it does not appear that the more frequent renewal period for those ages 81 and up produced any benefit compared to the control group. As the number of older drivers continue to increase into the future, the analysis of licensing requirements and their impact is important.

Accidents, Traffic↗