14 results on '"Rothe, Hm"'
Search Results
2. Guidelines for genetic testing and management of Alport syndrome
- Author
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Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter, Savige, J, Lipska-Zietkiewicz, B, Watson, E, Hertz, Jm, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, Dg, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, Hm, Hoefele, J, Zacchia, M, Martic, Tn, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H, Flinter, F., RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, and MUMC+: DA KG Lab Centraal Lab (9)
- Subjects
Feature ,Collagen Type IV ,KIDNEY-TRANSPLANTATION ,RENAL-FAILURE ,MICROSCOPIC HEMATURIA ,Epidemiology ,Nephritis, Hereditary ,Alport syndrome ,COL4A3 ,COL4A4 ,COL4A5 ,FSGS ,collagen IV ,digenic Alport syndrome ,genetic testing ,kidney cysts ,thin basement membrane nephropathy ,Critical Care and Intensive Care Medicine ,urologic and male genital diseases ,Autoantigens ,DIGENIC INHERITANCE ,SEQUENCE VARIANTS ,Humans ,GENOTYPE-PHENOTYPE CORRELATIONS ,Transplantation ,urogenital system ,COL4A3/COL4A4 MUTATIONS ,GLOMERULAR-BASEMENT-MEMBRANE ,NATURAL-HISTORY ,female genital diseases and pregnancy complications ,Nephrology ,Practice Guidelines as Topic ,FAMILIAL HEMATURIA - Abstract
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for persistent hematuria, even when a heterozygous pathogenic COL4A3 or COL4A4 is suspected, and cascade testing of their first-degree family members because of their risk of impaired kidney function. The experts recommend too that COL4A3 or COL4A4 heterozygotes do not act as kidney donors. Testing for variants in the COL4A3-COL4A5 genes should also be performed for persistent proteinuria and steroid-resistant nephrotic syndrome due to suspected inherited FSGS and for familial IgA glomerulonephritis and kidney failure of unknown cause.
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- 2022
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3. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
- Author
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Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, and Lipska-Ziętkiewicz BS
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- 2024
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4. [Psychosomatic health inventory: Basic psychosomatic documentation for quality assurance inpatient care].
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Wutzler U, Croy I, Anderssen-Reuster U, Bierling A, Dörner S, Hoffmann T, Meinlschmidt G, Rauchfuß M, Rothe HM, Ulrich C, Villmann T, Wankerl M, Weidner K, and Rose M
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- Humans, Hospitalization, Psychophysiologic Disorders diagnosis, Psychophysiologic Disorders therapy, Psychophysiologic Disorders psychology, Documentation, Inpatients, Quality Assurance, Health Care
- Abstract
Objectives: As part of the quality assurance of inpatient treatment, the severity of the disease and the course of therapy must be mapped. However, there is a high degree of heterogeneity in the implementation of basic diagnostics in psychosomatic facilities.There is a lack of scientifically based standardisation in determining the quality of outcomes. Methods: With the help of scientifically established test instruments, a resource-saving basic documentation instrument was developed. Many existing psychometric instruments were checked for test quality, costs and computer-supported application. Results: The Psychosomatic Health Inventory (gi-ps) consists of three basic modules with a total of 63 items: sociodemography, screening and psychosomatic health status.The latter is represented bymeans of construct-based recording on eight scales. Its collection at admission and discharge allows the presentation of the quality of outcomes.The development of a proprietary software solution with LimeSurvey enables the computer-based collection, evaluation, and storage of data. A list of test inventories for confirming diagnoses and predictors has been compiled, which are recommended for use in clinical routine. Discussion: With the gi-ps, a modular basic documentation instrument including the software solution is available to all interested institutions free of charge.
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- 2023
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5. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
- Author
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Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, and Lipska-Ziętkiewicz BS
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- Autoantigens genetics, Collagen Type IV genetics, Genetic Testing standards, Humans, Nephritis, Hereditary diagnosis, Phenotype, Consensus, Genetic Testing methods, Nephritis, Hereditary genetics, Practice Guidelines as Topic
- Abstract
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis and end-stage kidney failure without an obvious cause. The meeting refined the ACMG criteria for variant assessment for the Alport genes (COL4A3-5). It identified 'mutational hotspots' (PM1) in the collagen IV α5, α3 and α4 chains including position 1 Glycine residues in the Gly-X-Y repeats in the intermediate collagenous domains; and Cysteine residues in the carboxy non-collagenous domain (PP3). It considered that 'well-established' functional assays (PS3, BS3) were still mainly research tools but sequencing and minigene assays were commonly used to confirm splicing variants. It was not possible to define the Minor Allele Frequency (MAF) threshold above which variants were considered Benign (BA1, BS1), because of the different modes of inheritances of Alport syndrome, and the occurrence of hypomorphic variants (often Glycine adjacent to a non-collagenous interruption) and local founder effects. Heterozygous COL4A3 and COL4A4 variants were common 'incidental' findings also present in normal reference databases. The recognition and interpretation of hypomorphic variants in the COL4A3-COL4A5 genes remains a challenge., (© 2021. The Author(s).)
- Published
- 2021
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6. Psychosomatische Institutsambulanzen (PsIA) – und (k)ein Ende. Ein guter Anfang, der nun weiterentwickelt werden will.
- Author
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Rothe HM, Cuntz U, Driessen M, Jäger B, Krüger C, Längle G, Bergmann G, and Heuft G
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- Germany, Humans, Social Security, Ambulatory Care, Mental Health Services, Negotiating
- Abstract
The objective of this paper is to describe the agreement from the perspective of the authors who, as experts for the Deutsche Krankenhausgesellschaft (DKG - German Hospital Federation), have accompanied the PsIA negotiations since 2013. It traces the development of the PsIA negotiations leading to the "Änderungsvereinbarungen zur Vereinbarung zu den Psychiatrischen Institutsambulanzen gemäß § 118 Abs. 2 SGB V" (amendment agreements to the Agreement concerning the Psychiatric Outpatient Departments according to § 118 Abs. 2 SGB V - German Social Security Statute Book) of October 2019 with its striking difficulties in view of partly diametrally opposed interests of the negotiating partners.
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- 2020
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7. [Staffing level: Survey among psychosomatic-psychotherapeutic institutions in Germany].
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Friederich HC, Heuft G, Cuntz U, Hildenbrand G, Rothe HM, Blum K, Krüger C, Hochlehnert A, Kruse J, and Raible C
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- Germany, Humans, Psychotherapy, Surveys and Questionnaires, Health Workforce, Personnel, Hospital supply & distribution, Psychophysiologic Disorders, Workforce
- Abstract
Staffing level: Survey among psychosomatic-psychotherapeutic institutions in Germany Objectives: To establish the first nationwide hospital survey to assess the level of staffing for inpatient and daycare treatment in psychosomatic hospitals and specialist departments in Germany., Methods: Using a standardized written hospital survey from the Deutsches Krankenhausinstitut (DKI), we invited a total of 218 psychosomatic-psychotherapeutic hospitals and specialist departments to participate. The participation rate of the institutions was 35%., Results: In the overall sample, one psychotherapist (physician/clinical psychologist) was responsible for treating a median of 3.9 beds/patients (interquartile range 3.1-5.1) and one nurse a median of 2.9 beds/patients (interquartile range 2.3-3.9). There were significant differences for the nurse-patient ratio depending on the organizational size of the institution. To ensure quality treatment, professional experts saw increased staffing needs of about 12-17% across both professions. For the professional groups of specialist therapists and social workers, broad variances were observed for the therapist-patient ratio in the overall sample., Conclusions: The study provides an important and relevant data basis for the further discussion to determine mandatory minimal staffing levels in German psychosomatic-psychotherapeutic institutions.
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- 2018
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8. Cinacalcet HCl therapy in East Asian patients and rs1042636 carriers.
- Author
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Rothe HM
- Subjects
- Calcium, Humans, Parathyroid Hormone, Cinacalcet, Hyperparathyroidism, Secondary
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- 2018
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9. Effect of feeding ractopamine hydrochloride on growth performance and responses to handling and transport in heavy-weight pigs.
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Peterson CM, Pilcher CM, Rothe HM, Marchant-Forde JN, Ritter MJ, Carr SN, Puls CL, and Ellis M
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- Animal Feed analysis, Animals, Body Temperature physiology, Adrenergic beta-Agonists pharmacology, Phenethylamines pharmacology, Stress, Physiological drug effects, Swine, Transportation
- Abstract
The impact of feeding ractopamine hydrochloride (RAC) on growth performance and responses to handling and transport in heavy BW pigs was evaluated in a study performed as a split-plot design with a 3 × 3 factorial arrangement of treatments: 1) RAC level (0 vs. 5 vs. 7.5 mg/kg of feed) and 2) handling intensity (HI; gentle vs. moderate vs. aggressive); RAC level was the main plot and HI was the subplot. A total of 288 pigs housed in groups of 8 were used to evaluate growth performance over a 28-d RAC feeding period (98.5 ± 4.58 to 131.5 ± 7.45 kg BW). On d 29 of the study, the HI treatment was applied to 216 pigs (6/pen; 2/pen on each HI). This was followed by transportation for 1 h on a livestock trailer at the end of which pigs were subjected to a final handling procedure. Blood samples (to measure acid-base, cortisol, and catecholamine levels) were collected and rectal temperature was measured 2 h before the HI treatment (baseline) and after the final handling procedure (final). Feeding RAC (5 and 7.5 mg/kg) improved ( < 0.01) ADG (9.9 and 9.0% for 5 and 7.5 mg/kg RAC, respectively) and G:F (8.8 and 11.8%, respectively) compared to controls, with no differences ( > 0.05) between the 2 RAC levels. Increasing the intensity of handling decreased ( < 0.001) final blood pH, bicarbonate, and base excess and increased ( < 0.001) final blood lactate and plasma cortisol and norepinephrine levels. Aggressive compared to gentle handling increased ( < 0.05) the incidence of pigs exhibiting open-mouth breathing and skin discoloration after the final handling procedure but had no effect ( > 0.05) on the incidence on nonambulatory, noninjured pigs. There was no effect ( > 0.05) of feeding RAC on final rectal temperature or blood acid-base measurements. Feeding 7.5, but not 5, compared to 0 mg/kg RAC increased ( < 0.05) final plasma epinephrine levels and the incidence of nonambulatory, noninjured pigs. This study confirms the improved growth performance of pigs fed RAC and the negative effects of aggressive handling on physical, metabolic, and physiological responses of pigs. It also suggests that pigs fed 5 compared to 0 mg/kg RAC showed similar responses to transport and handling. However, pigs fed 7.5 mg/kg of RAC had a greater incidence of nonambulatory, noninjured pigs when subjected to the handling/transport model and this warrants further investigation.
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- 2015
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10. Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly).
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Reyes M, Rothe HM, Mattar P, Shapiro WB, and Cifuentes M
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- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Cinacalcet, Humans, Hypercalcemia drug therapy, Hypercalcemia genetics, Middle Aged, Naphthalenes pharmacology, Calcium metabolism, Genetic Variation, Polymorphism, Genetic, Receptors, Calcium-Sensing genetics
- Abstract
Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma. Carriers of the Arg allelle, show less parathyroid hormone secretion suppression in response to the drug. This effect was reproducible in transfected cultured human embryonic kidney cells, supporting a causal relationship on the protein level. We previously established that cinacalcet has an antilipolytic effect in isolated human adipocytes; however, there were a number of samples that did not respond to the treatment. The present work aimed to investigate whether the variable antilipolytic response to cinacalcet in adipocytes was consistent with the effect reported for the rs1042636 polymorphism. Lipolysis was assessed by measuring glycerol release after exposure to cinacalcet (10 μM) or vehicle in adipocytes isolated from 38 donors. Responsiveness was defined as lipolysis suppression (cinacalcet vs vehicle control) greater than 20%. Genotype analysis showed that 23 adipocyte donors were homozygous for Arg at position 990, 14 heterozygous and 1 homozygous Gly-Gly. Among the Arg homozygotes, one was responsive to cinacalcet, whereas five Gly carriers responded to the calcimimetic. In all, 83% of adipocytes showing response to cinacalcet carried the glycine allele, whereas in 96% of Arg-Arg individuals adipocytes did not respond to the calcimimetic (P=0.027, Fisher's exact test). Confirming sHPT observations, adipocytes from rs1042636 Gly-allele carriers show higher sensitivity to the antilipolytic action of cinacalcet. The potential benefit of cinacalcet as a suppressor of basal lipolysis and free fatty acid release in uremic patients needs to consider the rs1042636 single-nucleotide polymorphism.
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- 2012
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11. Cinacalcet treatment of primary hyperparathyroidism.
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Rothe HM, Liangos O, Biggar P, Petermann A, and Ketteler M
- Abstract
Although parathyroidectomy remains the only curative approach to most primary hyperparathyroidism cases, medical treatment with cinacalcet HCl has been proven to be a reasonable alternative for several patient subgroups. Cinacalcet almost always controls hypercalcemia and hypophosphatemia sufficiently. PTH levels are lowered, and cognitive parameters improve. While an increase in bone mineral density DEXA scan scores was not demonstrated in cinacalcet trials, the same applies to more than half of patients after parathyroidectomy. Medical therapy should be first choice in patients with hyperplasia in all glands rather than an isolated adenoma (10-15%), patients with persisting HPT following unsuccessful surgery or inoperable cases due to comorbidities, and patients detected in lab screens for hypercalcemia before developing symptoms who should be treated early but are usually reluctant to undergo surgery. Nephrolithiasis was not found to occur more frequently in cinacalcet trial groups, but urine calcium excretion as one major risk factor of this complication of primary HPT may increase on cinacalcet. Patients carrying the rs1042636 polymorphism of the calcium-sensing receptor gene respond more sensitively to cinacalcet and have a higher risk of calcium stone formation. Cinacalcet is usually administered twice daily but three or four doses per day should be discussed to mimic the beneficial pulsatile PTH-pattern.
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- 2011
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12. Association of ANCA-positive vasculitis with thyroid disease.
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Rothe HM, Siegmund J, Müller H, and Wopperer J
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- Acute Kidney Injury diagnosis, Acute Kidney Injury etiology, Antibodies, Antineutrophil Cytoplasmic analysis, Autoimmune Diseases complications, Autoimmune Diseases diagnosis, Autoimmune Diseases therapy, Combined Modality Therapy, Drug Therapy, Combination, Female, Follow-Up Studies, Glomerulonephritis complications, Glomerulonephritis diagnosis, Glomerulonephritis therapy, Humans, Immunosuppressive Agents therapeutic use, Middle Aged, Renal Dialysis methods, Risk Assessment, Thyroid Diseases complications, Thyroid Diseases diagnosis, Thyroid Diseases therapy, Treatment Outcome, Vasculitis complications, Vasculitis diagnosis, Vasculitis therapy, Antibodies, Antineutrophil Cytoplasmic immunology, Glomerulonephritis immunology, Thyroid Diseases immunology, Vasculitis immunology
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- 2008
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13. Calcium-sensing receptor gene polymorphism Arg990Gly and its possible effect on response to cinacalcet HCl.
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Rothe HM, Shapiro WB, Sun WY, and Chou SY
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- Adult, Aged, Alleles, Base Sequence, Cinacalcet, Clinical Trials as Topic, DNA metabolism, Exons, Female, Genotype, Glycine chemistry, Homozygote, Humans, Kidney Failure, Chronic genetics, Lymphocytes metabolism, Male, Middle Aged, Models, Statistical, Molecular Sequence Data, Pharmacogenetics methods, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Time Factors, Arginine genetics, Calcium metabolism, Glycine genetics, Kidney Failure, Chronic drug therapy, Naphthalenes pharmacology, Polymorphism, Genetic, Receptors, Calcium-Sensing genetics
- Abstract
Cinacalcet, a novel calcimimetic compound, is effective in reducing parathyroid hormone (PTH) levels in approximately 70% of patients with secondary hyperparathyroidism. However, interindividual variations in the dose required to achieve the treatment goal have been noted in clinical studies. Our investigation examined the genetic polymorphisms of the calcium-sensing receptor (CaSR) gene as one possible cause of the different responses to cinacalcet. We report data on seven end-stage renal failure patients who were treated with regular haemodialysis and who participated in clinical trials of cinacalcet. All patients had secondary hyperparathyroidism with baseline intact PTH (iPTH) levels greater than 600 pg/ml. Three patients were male and four female with a mean+/-SD age of 60+/-12 years. DNA was extracted from peripheral lymphocytes. An area in exon 7 of the CaSR gene was amplified by the polymerase chain reaction and sequenced. Mean+/-SD baseline iPTH was 1086+/-189 pg/ml. The five patients without Arg990Gly demonstrated a 29.7+/-4.0% (+/-SEM) reduction in iPTH from individual baseline. One patient was found to be homozygous for the Arg990Gly polymorphism and another was heterozygous for both arginine and glycine alleles. The homozygous patient showed a significantly higher sensitivity to cinacalcet compared to the other patients (P=0.003) with a 76.3+/-7.7% reduction in iPTH from baseline. No polymorphisms were noted in codons 986 or 1011. This preliminary study points to the possibility that patients homozygous for glycine at the 990 position in exon 7 of the CaSR may be more sensitive to the calcimimetic drug cinacalcet compared to those who are homozygous for arginine at that location.
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- 2005
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14. [Preliminary comments on existential analytic psychosomatic medicine].
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Rothe HM
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- Adaptation, Psychological, Humans, Existentialism, Psychoanalytic Therapy, Psychophysiologic Disorders psychology, Sick Role
- Abstract
Existential analysis as a personal and meaning orientated psychotherapy describes a person in the performance of its existence. The anthropological and therapeutic concept of the existential analysis are presented in essential points (intentionality, self-transcendence, will to meaning, ability of self-detachment, corporability and responsibility) as a way of approach and interpretation. Psychosomatic illness is understood as a mode of personal existence. The integral "gestalt" of a person in its subjectivity, biography and corporality is reflected on with regard to its abilities and revealing of individual possibilities of meaning. The under determination of psychosomatic phenomena shows itself as an expression of a person's relative freedom to decide about its own development.
- Published
- 1992
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