BACKGROUND: Rare diseases affect millions of people globally, with a lifetime incidence of 1 in 17. They are complex, multisystem, severe disease, and patients experience a diagnostic delay averaging 5.6 years with associated misdiagnoses, inappropriate treatments, and anxiety. MendelScan is a digital case-finding tool that uses structured primary care data to identify patients at risk of being affected by one of a series of rare diseases. This qualitative study explored primary healthcare professionals\' experiences of implementing this technology.
OBJECTIVE: To develop an understanding of primary healthcare professionals\' experiences of implementing MendelScan with a focus on their perception of the technology and its implementation, challenges and opportunities.
METHODS: A qualitative appraisal of implementing MendelScan using descriptive analysis of surveys and semi-structured interviews with professionals.
RESULTS: A total of 11 professionals from the two project areas participated. Participants included GPs, nurses, a genetic counsellor, and healthcare managers.Participants reported that they received adequate support, the project increased confidence in integrating genetics in primary care, and that it may improve inequity in rare disease diagnosis. Professionals\' reservations were related to knowledge, time commitments, primary care pressures, contacting patients, data sharing and confidentiality, and overcoming clinical resistance in sharing data with a non-NHS external body.
CONCLUSIONS: This study provides a valuable insight into the experiences of primary care professionals using a novel tool to identify rare diseases. The potential of this tool is promising with benefits for skill development. Large-scale implementation faces challenges related to primary care capacity, data, and funding.

OBJECTIVE: This pilot study aims to enhance understanding by examining parents\' specific views on the requirements, content and objectives of case management and advanced care coordination for children with rare diseases during childhood. The findings of this study are expected to offer valuable insights and recommendations for existing and future initiatives in clinical practice and research, with the goal of improving the comprehensive, child-centred and family-orientated approach to case management.
METHODS: This pilot study is part of an ongoing prospective study (SPACE), involving parents and families from various networks in Switzerland. Participants were parents recruited from the Children with Rare Diseases (KMSK) network consisting of families with children with rare diseases. The survey questionnaire covered demographic information; expectations and perceived need for case management; assessment of their quality of life and their child\'s suffering; and evaluation of interprofessional and interdisciplinary communication. Qualitative data from free-response answers were analysed using Mayring\'s content analysis and descriptive statistics were used to analyse quantitative data from Likert-scale questions.
RESULTS: The study included 108 respondent families from among the 775 in the KMSK, a 14% response rate. The age of their children ranged from 0.4 to 24 years (mean: 8) and their level of suffering in the past six months varied, with 31.5% indicating intense or very intense suffering. In terms of case management, 15.8% of families reported access while 32.4% expressed a need but did not have access to it. The study identified three categories of parental expectations regarding case management, emphasising the importance of interprofessional collaboration, effective communication and comprehensive support.
CONCLUSIONS: The findings shed light on the high need for case management support with a current undersupply in Switzerland and an association with reduced parental quality of life, highlighting the necessity for diverse support and assistance to effectively manage the challenges faced by families with children with rare diseases.

Sarcomatoid renal cell carcinoma (SRCC), a manifestation of sarcomatoid dedifferentiation in renal cell carcinoma, is characterized by elevated invasiveness and a grim prognosis. Typically, SRCC patients present with advanced or metastatic conditions and survival rates rarely extend beyond one year. In this study, we describe a case of SRCC characterized by the patient exhibiting right flank pain without hematuria. Initially, imaging interpretations led to a diagnosis of severe hydronephrosis. Subsequently, an open right nephrectomy post-surgery confirmed the pathology of sarcomatoid renal cell carcinoma.

BACKGROUND: Patients with haemophilia (PwH) are at increased risk of falls due to haemophilic arthropathy. Yet, studies on clinical tests associated with the risk of falling are scarce in PwH.
OBJECTIVE: (1) To evaluate the feasibility of different clinical motor performance tests associated with the risk of falling in PwH; (2) to evaluate PwH\'s performance of these tests compared to a control group; (3) to identify possible influencing factors that affect performance.
METHODS: Twenty-nine severe and moderate PwH (57.0 years, IQR: 48.0-61.5) and 29 healthy age- and BMI-matched control participants (CG) performed 13 different clinical tests (SPPB, timed up and go, push and release, functional reach, single-leg stance, knee and grip strength). Haemophilia joint health score (HJHS), kinesiophobia (TSK-11), subjective physical performance (HEP-Test-Q), falls efficiency (FES-I) and falls were assessed.
RESULTS: No adverse events occurred. PwH showed impaired performance in all clinical tests, a lower falls efficiency and a higher HJHS than CG. PwH with higher HJHS, lower HEP-Test-Q and higher TSK-11 scores showed higher deficits. Largest discrepancies were observed in the single-leg stance with eyes open and knee extensor strength, where orthopaedically majorly affected PwH showed worse performance compared to minorly affected PwH and the CG, respectively. The prevalence of ≥1 fall in the last year was 27.6% (PwH) and 10.3% (CG).
CONCLUSIONS: These clinical tests are feasible in PwH. Impaired joint status, a high kinesiophobia and low physical performance impair performance. These tests can be used by clinicians for gaining specific information on functional motor abilities of patients.

Both cecal volvolus and Winslow hernia are rare clinical presentations accounting for 1-1.5 and 0.08% of bowel obstructions. The combination of the two phenomena has been described so far in 13 case reports. Our patient underwent laparotomy with lesser Sac opening, manual hernia reduction, right hemicolectomy and partial Foramen closure with two simple stitches of PDS 4.0. Due to the scarcity of literature guidelines are not available, the intraoperative state of the tissues and the likelihood of a hernia recurrence play a decisive role in surgical management.

BACKGROUND: Angiosarcoma of the adrenal gland is a very rare malignant vascular neoplasm. The clinical symptoms are atypical or completely absent. Angiosarcomas of the adrenal gland are therefore often discovered incidentally, and the diagnosis is made histologically after resection.
METHODS: A 46-year-old white Spanish male who was a previous smoker and nondrinker and was slightly overweight (92 kg, 176 cm, body mass index 29.7 kg/m2) with no relevant medical history presented to the internal medicine emergency department of our hospital with an unclear 12 cm tumor of the right adrenal gland. Prior to the computed tomography scan, he had had persistent evening fevers for 4 months and unintentional weight loss of 5 kg. The laboratory results showed anemia and an elevated C-reactive protein, but no hormone production. We performed an open adrenalectomy of the right adrenal gland. Finally, the histologic findings revealed an angiosarcoma of the adrenal gland.
CONCLUSIONS: Even though angiosarcomas of the adrenal gland are rare, the differential diagnosis of an angiosarcoma should be considered if a malignant tumor of the adrenal gland is suspected. Treatment decisions should be made on an interdisciplinary basis and preferably in a specialized center. Owing to the rarity of angiosarcomas of the adrenal gland, it is necessary to continue to share clinical experience to gain a better understanding of this particular tumor entity.

UNASSIGNED: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare disease that targets the myelin sheath, while neuromyelitis optica spectrum disorder (NMOSD) with anti-aquaporin-4 antibodies (AQP4-Ab) affects astrocytes. We report a unique case of CIDP associated with NMOSD.
UNASSIGNED: A 49-year-old woman presented to the emergency department with recurrent episodes of vertigo and blurred vision. Brain magnetic resonance imaging (MRI) with contrast eight months before admission showed Dawson\'s finger, and follow-up brain MRI showed a new hyperintense lesion. Visual evoked potential showed bilateral pre-chiasma lesions, and somatosensory evoked potential indicated lesions between the medulla and cerebral cortex. The patient tested positive for AQP4-Ab, and had ascending lower motor neuron weakness for the past 10 weeks. Electromyography revealed multiple demyelinating lesions suggestive of CIDP. The patient was intravenously administered corticosteroids, methotrexate, and azathioprine, resulting in clinical improvement.
UNASSIGNED: CIDP associated with NMOSD is a rare occurrence. In our patient, a combination of corticosteroids and immunosuppressants was effective. The mechanism of combined demyelination of the central and peripheral nervous systems is still not fully understood, and further immunological and pathological studies are needed.

Background/Objectives: Pycnodysostosis is a rare genetic disorder causing skeletal dysplasia. It is determined by a gene mutation leading to cathepsin K deficiency and predisposes a patient to osteosclerosis, resulting in increased bone fragility. The altered bone quality typical of this disease is responsible for an increased risk of fractures. The purpose of our study was to evaluate the orthopedic manifestations and potential pitfalls in the surgical treatments of pathological fractures in a series of patients treated in our institution who were affected by pycnodysostosis. Methods: We retrospectively evaluated clinical and radiographic characteristics of five patients with pycnodysostosis treated for pathological fractures at our hospital in the past 5 years. Results: Two male and three female patients were included in this study. Four patients had a family history of pycnodysostosis. All the patients were of short stature, but only two underwent growth hormone treatment. All the patients experienced fractures, mostly in their lower limbs and occurring as a result of low-energy trauma. Most of the patients experienced either consolidation delay or nonunion. Conclusions: The orthopedic management of fractures in patients with pycnodysostosis poses an ongoing challenge for orthopedic surgeons. The fact that the bone is simultaneously sclerotic and brittle makes any orthopedic surgical treatment challenging and at a high risk of nonunion in any case.

ALK-positive Histiocytosis (ALK-HSs) is a recently identified rare clinical entity characterized by tissue histiocytic alterations associated with ALK gene rearrangement. Clinical presentations can be solitary, multifocal, or systemic (involving multiple sites and organs). Due to limited reported cases, there is inadequate understanding of this disease. This report presents a case of ALK-HSs in a 71-year-old male patient who presented with hematuria for one week. Imaging studies conducted at an external hospital showed multiple lesions in the penis, bilateral testes, back skin, and the third lumbar vertebra. Histopathological findings included spindle and histiocytic cell proliferation with mild or indistinct cellular atypia, interstitial infiltration of lymphocytes, plasma cells, foamy histiocytes, and fibrous tissue proliferation. Immunohistochemistry of the lesion cells revealed positivity for CD68, CD163, ALK1, ALK (D5F3), and Vimentin. FISH testing indicated ALK gene separation in the lesion cells. NGS testing identified the fusion genes KIF5B(NM_004521) and ALK(NM_004304) in the lesion cells. We combined the characteristics of this case with a review of the literature to enhance our understanding of this rare clinical entity.

Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood.