[Comprehensive care for visually impaired and blind people in addition to optical care].

The numbers of low vision patients will steadily increase because of increasing longevity. If patients are no longer able to receive medical treatment to improve their vision, they should be fitted with visual aids, e.g.

[CF Lung Disease - a German S3 Guideline: Pseudomonas aeruginosa].

Cystic Fibrosis (CF) is the most common autosomal recessive genetic multisystemic disease. In Germany, it affects at least 8000 people. The disease is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene leading to dysfunction of CFTR, a transmembrane chloride channel.

[The guidelines of the Federal Joint Committee on acute pain management : Background and consequences for the practice in hospitals].

The quality of postoperative pain therapy in Germany shows a heterogeneous treatment practice and large differences in quality between individual institutions, The patient representatives in the Federal Joint Committee (G-BA) have therefore decisively campaigned for many years that instruments of non-legislative standards are employed in order to noticeably improve the quality of perioperative pain therapy for patients in Germany. As a result of these efforts, in October 2020 a binding specification for internal quality management was included in the quality management guidelines (QM-RL) by the G‑BA. This describes in concrete terms the structural and procedural requirements for an internal quality management of acute pain for all institutions in which operations and comparable potentially painful interventions are carried out.

[White Paper - Improving the care of patients with impairments following sepsis and infections].

Hundreds of thousands of individuals who experience lasting sequelae after sepsis and infections in Germany do not receive optimal care. In this White Paper we present measures for improvement, which were developed by a multidisciplinary expect panel as part of the SEPFROK project. Improved care rests on four pillars: 1.

[The potentials of patient surveys for quality assurance in medical care].

What constitutes "quality" in medical care and the means by which it is controlled, secured, or (re-)established has largely been assigned to the joint self-administration of service providers and health insurers in Germany. The current implementation uses an understanding of quality that does not sufficiently take into account important patient-centered quality dimensions. One of the reasons for this might be that patient surveys are not yet recognized as an equivalent data source for quality assessment in the German healthcare context and are not yet established nationwide.

[Patient orientation and patient participation in research: Deficits, modes and expectations from a patient representative's point of view].

The article addresses deficits in patient orientation and patient involvement in medical research from a patient's perspective and provides recommendations for their further development. Researchers often practice patient orientation as well as patient involvement in an unstructured and inconsistent manner. The decision if and how patient involvement takes place is, to a considerable extent, the researchers' responsibility.

[Research promotion by a patient organization : The example of PRO RETINA and it's research foundation].

This article illustrates the development, framework conditions and results of research promotion by the patient self-help organization PRO RETINA Deutschland e. V. and its foundation, with a special focus on patient participation.

[CF Lung Disease - a German S3 Guideline: Module 2: Diagnostics and Treatment in Chronic Infection with Pseudomonas aeruginosa].

Cystic Fibrosis (CF) is the most common autosomal-recessive genetic disease affecting approximately 8000 people in Germany. The disease is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene leading to dysfunction of CFTR, a transmembrane chloride channel. This defect causes insufficient hydration of the epithelial lining fluid which leads to chronic inflammation of the airways.

[Reliable health information for patients with rare diseases : Quality demands defined by the National Action Plan and how they are put into practice].

Information for patients with rare diseases has to adhere to strict quality criteria in order to support individual treatment decisions or coping strategies. However, developers are facing specific challenges: For example, the evidence is often insufficient or of very low quality. In the context of the National Action League for People with Rare Diseases (NAMSE), criteria have been developed that assure high-quality information on rare diseases.

[Development of disease-specific patient groups within Pro Retina].

The formation, development and external impact of the following eight disease-specific patient groups with rare forms of retinal degeneration (RRD) within the patient organization Pro Retina are described: Gyrate Atrophy, Bardet-Biedl Syndrome (BBS), Adult Refsum's Disease, Usher Syndrome, Rod-Cone Dystrophy, Leber's Congenital Amaurosis, Choroideremia and Stargardt Disease/juvenile macular degeneration. Within the project sponsored by the German Ministry of Health (BMG) approaches of patient self-help for an adequate organization and interaction with the professional medical care system were supported, analyzed and documented. In syndromic RRD a relatively high proportion of patients are organized in patient groups (Refsum's disease 25%, BBS 14%, Usher Syndrome 8%).

[Patient involvement in clinical guideline development: are patient organisations prepared for this task?].

The involvement of patients in the development of clinical guidelines essentially aims at ensuring and improving the quality of patient-centred care. Hence, it becomes an important tool for quality management in medicine since patients are learning the hard way where clinical care is lacking. This may include the inappropriate consideration of current medical knowledge, the unintelligible or insufficient information and education of the patient or information gaps at the interface between care settings.

[From uncertainty to solidarity--promoting evidence in rare diseases through physician-patient interaction].

With rare diseases the evidence base is often poor. The reasons are, among other things: (a) strict separation of evidence users (i.e.

[Patient participation in medical care, taking rare retinal degenerations as examples].

Eight rare retinal degenerations were chosen to exemplify self-organisation and involvement of patient self-help groups in medical care. They were studied and supported in their development on the following levels: disease-specific groups (level 1), patient organisations (level 2), umbrella organisation (level 3). Databases of defined needs and concerns ("Themenspeicher") of disease-specific patient groups and of patient organisations with respect to care, research and patient networking were established.

[Shared decision-making based on equal information. Patient guidelines as a tool for patient counseling].

In discussions on the quality of cross-sectorial health-care services high importance is attributed to patient education and patient counseling, with guideline-based patient information being considered a crucial tool. Guideline-based patient information is supposed to serve patients as a decision-making basis and, in addition, to also support the implementation of the guidelines themselves. The article highlights how patient guidelines for National Disease Management Guidelines in Germany--within the scope of patient education and patient counseling--may provide a uniform information platform for physicians and patients aiming to promote shared decision-making.

[Participation of patients in the program for national disease management guidelines--current state and implications].

Patient involvement has been implemented in the Program for National Disease Management Guidelines since 2005. Currently patient/consumer participation is being incorporated in terms of patients' comments of consultation papers on National Disease Management Guidelines (NDMG) and in the development of NDMG-based patient guidelines (PG). The editorial activities in patient guideline development from the beginnings to its publication are conducted in close cooperation with the patient representatives appointed by the Patient Forum.

Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus.

Choroideremia (CHM) is an X-linked retinal degenerative disease resulting from a lack of functional Rab Escort Protein-1 (REP-1). As a first step in developing gene-based therapies for this disease, we evaluated the feasibility of delivering functional REP-1 to defective lymphocytes and fibroblasts isolated from individuals with CHM. A recombinant adenovirus delivering the full-length human cDNA encoding REP-1 under the control of a cytomegalovirus promoter was generated.

Prenatal exclusion of choroideremia.

We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis.

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

By making use of positional cloning strategies we recently isolated a candidate gene for choroideremia (CHM), which is transcribed in retina, choroid, and/or retinal pigment epithelium. The gene contains an open reading frame that is structurally altered in 10 CHM patients with sizable deletions and in a female patient with a balanced translocation involving the Xq21 band. Employing PCR-SSCP analysis and direct DNA sequencing we have now detected and characterized different point mutations in five patients with CHM.

Cloning of the breakpoints of a deletion associated with choroidermia.

In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA; this fragment carries the junction between both deletion endpoints ("junction fragment"). The distal portion of this fragment defines a new marker within, or just distal to, the TCD gene.

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel electrophoresis, and cloning of a deletion junction fragment. With these clones we were able to identify and characterize eight deletions in 69 choroideremia patients investigated. The deletions are heterogeneous, in both size and location.

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Choroideremia (tapeto-choroidal dystrophy, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central blindness in affected males by the third to fourth decade of life. Recently, we have been able to map the TCD gene to a small region of overlap between five different, male-viable Xq21 deletions that were found in patients with TCD and other clinical features. Two families were identified in which classical, nonsyndromic TCD is associated with small interstitial deletions that are only detectable with probe p1bD5 (DXS165).

Deletion of the DXS165 locus in patients with classical choroideremia.

Using various probes from the Xq21 region which is known to carry the choroideremia (tapetochoroideal dystrophy, TCD) locus, we have screened the DNAs from eight unrelated male choroidermia patients for microdeletions. In two of these patients, but not in any of 45 males tested as controls, lack of hybridization signals with probe plbD5 suggested a deletion encompassing the DXS165 locus and (part of) the TCD gene. Absence of additional clinical features in these patients and the fact that two closely linked, and probably flanking, TCD markers (DXYS1 and DXS72) are not deleted may indicate that the physical distance between the DXS165 locus and the TCD gene is small.