Retinitis Pigmentosa is a rare disease, listed on Orphanet as an inherited retinal dystrophy that induces a progressive loss of photoreceptors and retinal pigment epithelium resulting in blindness after decades of disease evolution, with a prevalence between 1/3,000 to 1/5,000. More than 3000 mutations have been described in the etiology of non-syndromic Retinitis Pigmentosa.

Young and healthy girl, father with Retinitis Pigmentosa, knows that she is an only child because the risk of transmitting the disease was not known. After finishing her university graduation, she decides to investigate her family to understand how Retinitis Pigmentosa is transmitted, identifying her aunt, her grandmother and one of her great uncles with the disease. The genetic study of her father detected 2 pathogenic alterations that give rise to Retinitis Pigmentosa: a mutation in the EYS gene in homozygosity, with autosomal recessive heredity, and a mutation in the KLHL7 gene in heterozygosity, with autosomal dominant heredity. It is thus confirmed that the young girl carries one allele of the mutation on the EYS gene with autosomal recessive heredity, that her grandmother carries one allele of each mutation and there is consanguinity between the paternal grandparents. She decides to submit herself to a genetic study, but already with a prior indication of the possibility of prenatal diagnosis if she wants to become pregnant.

A rare disease can have a great impact on the family dynamic, and two different alterations for the same disease alerts to the great genetic and clinical variability, making it difficult to recognise the most typical pattern for the detection of Retinitis Pigmentosa. But with the advances in medicine it is possible to detect and anticipate future risks and the family doctor, as the main element in health surveillance, must understand, identify and accompany these families throughout the evolution of the disease.

1. Rare diseases have impact on family dynamics
2. Retinitis pigmentosa may lead to blindness
3. Families with a history of rare diseases should be followed throughout its evolution

Introduction: Cobb syndrome (spinal arteriovenous metameric syndrome (SAMS)), a rare condition first described by Stanley Cobb in 1915, is a non-hereditary neurocutaneous syndrome characterized by spinal vascular abnormalities in association with cutaneous vascular lesions at the same metamere. We herein report an extremely rare case of Cobb syndrome showing malignancy-related hypercalcemia caused by zosteriform cutaneous metastasis of bladder carcinoma with squamous cell differentiation.
Case: A 74-year-old female presented with a four-year history of repeated cellulitis in the left thigh, treated with oral antibiotics in a clinic. One month before admission, erythema nodosum elasticum appeared in the same area, which worsened despite treatment. Eight days before, a disturbance of consciousness appeared, she was referred to our hospital for hypercalcemia. She had a history of bilateral lower extremity paralysis, long-term urethral balloon placement with pyuria. The swelling and erythema of the left buttock to the anterior aspect of the left thigh with a distribution of 1.0 cm firm elastic nodules in a zosteriform pattern in the L1-L4 region were observed. Computed tomography showed thickening on the bladder wall, dilated renal pelvises and subcutaneous edema in the left lower extremity, as well as destruction and calcification in the L2-4 lumber vertebrae and L5 vertebral hemangiomas. Urine cytology revealed squamous cell carcinoma and skin biopsy confirmed metastatic squamous cell carcinoma. Despite treatment for hypercalcemia and urinary tract infection, she died. Postmortem autopsy confirmed Cobb syndrome-associated cutaneous metastasis extending along the same metamere was complicated by immunohistochemically proven parathyroid hormone-related protein-producing advanced bladder carcinoma.
Conclusion: This is the first case of Cobb syndrome caused by metameric cutaneous metastasis of bladder carcinoma with squamous cell differentiation. These findings suggest that in cases with segmental skin lesions, the possibility of SAMS should be a consideration.

1.This is the first report of cancer complications in cobb syndrome.
2.If you see a skin rash along the dermatome, consider SAMS.

Equity is the absence of unfair and avoidable differences among groups of people. Health equity is achieved when everyone can attain their full potential for health and well-being. Sustainable Development Goals are the global goals to achieve a better and more sustainable future for all, and health appears in Goal 3, which is to promote good health for all. One of the targets for well-being is equity to access health services. The National Committee for Quality Assurance, USA stated that high-quality care is considered to be equitable. Health inequity is a challenging problem. Thus, the cooperation of multidisciplinary teams is an essential core to solving the issue, once these are healthcare professionals who work together and share ideas.
Health inequity comprises aspects such as gender inequity, racing/ethnic gaps, social inequities, and access to healthcare, lack of patient empowerment and tackling health misinformation. Even though equity is a fundamental right, high-quality care is limited for some groups of people.
Quality Improvement is advocated to practise in many healthcare services for addressing and ameliorating health inequity in healthcare system. QI is defined as the combined and unceasing efforts of everyone to make better health, better care and better learning. QI tools use to specify, evaluate and prioritise problems of the system. The process map is a QI tool that allows a team to visualise the whole process, recognize the problems, and identify opportunities in each step. The practice of QI in health inequities needed to be practised with the team for more outstanding services.
This workshop aims at healthcare providers who interested in health inequities and addresses how to use Process Maps to solve issues in different aspects with multidisciplinary teams.

1. To comprehend Quality Improvement aspects and Process map tool.
2. To learn how to use "Process map" tool in different health inequities scenarios.
3. To apply "Process map" in multidisciplinary teams and reflect on its application.

Aim: We are working as four general practitioners in a hospice since 12 years and the mean number of patients admitted is about 130 per year. During Covid disease pandemic, less people were admitted and the application forms of living will were less frequently asked. Now the admission rate rises and most people admitted in our hospice are cognitively fit. But due to the evolution of the disease: like primary or secondary brain tumours or uncontrollable pain or dyspnoea , the patient might bring us to reflect on clearly expressed wishes for ending their lifes by three different manners. Content: As we are working in a multidisciplinary team, ethical conferences are hold in order to have a clear professional position which will be discussed with the patient. The content of this ethical consensus conference will be explained to the congress audience as a learning tool to structure the medical reflection, to provoke a professional judgement in order to achieve a common acceptable decision. We will present three real patient’s situations, including voluntarily stopping eating and drinking; final sedation and euthanasia, in order to discuss with the audience on what would have been their attitude in front of the patient. We will present the patient’s evolution and explain our handling. The chosen scenarios will allow us to engage further in a discussion on very important correlated issues, like : mental capacity assessment ; exploring barriers to a free patient’s choice (depression, familiar pressures), and to accept the patient’s end-of-life will even in opposition to our own attitude. Further legal aspects in such rare but difficult medical situations have to be raised in order to avoid the prosecution of the involved physician. And finally for our own medical well-being , we explore with the audience, how and where we can get support

1.ethical consensus tool , 2.mental capacity assessment, 3. patient’s wishes and doctor’s emotions

In 2019 a pilot project was started in our country to use the “cannabis medicinalis” . In order to be allowed to prescribe, general practitioners (GP) and other specialists were taught through a 1 day course and a recent online upgrading session was done in December 2022. Three different forms of flowering tops are available : 1) predominant tetrahydrocannabinol THC 17% 2) equal THC and cannabidiol CBD 2x 5% and 3) predominant CBD 12%. A first survey 2 years ago gave us some insight on where and how often it was ordered by general practitioners: they represent 63% of the prescriptions. Their main reason to order the cannabinoids was insufficiently treated chronic pain. In mid 2022 a commission was enabled to strengthen the indications in order to be in line with evidence based medicine . We as GPs were involved in a working group and have contributed to the now existing indications in daily practice in our country. Five major indications may exist, the first three as clear indications: a) only as cannabidiol (CBD), for rare forms of juvenile epilepsy ; all others indications as a combination of CBD and THC (tetrahydrocannabinol) : b ) for chemotherapy induced nausea and vomiting; c) for spasticity in multiple sclerosis and 2 other possible indications were found : d) for chronic pain with a general cutting down of 1 point on the VAS 10 points scale and e) for neuropathic pain: similar indications as for chronic pain: to use only in 2d or 3rd line . In conclusion we can say ,strong indications are documented for a, b and c , but for the GP , medical cannabis could also be an option for chronic and neuropathic pain , but never as a first line choice.

1.to distinct chronic from neuropathic pain, 2.to differentiate THC and CBD, 3. to know clear indications