Search results for "rare disease"
showing 10 items of 154 documents
Musculoskeletal manifestations in children with Behçet's syndrome: data from the AIDA Network Behçet's Syndrome Registry
2023
AbstractThis study aims to describe musculoskeletal manifestations (MSM) in children with Behçet’s syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet’s Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onset (26.2%). The median age at onset was 10.0 years (IQR 7.7). The median follow-up duration was 21.8 years (IQR 23.3). Recurrent oral (100%) and genital ulcers (67.6%) and pseudofolliculitis (56.8%) were the most common symptoms associated with MSM. At disease onset, 31 subjects had arthritis (83.8%), 33 arthralgia (89.2%), and 14 myalgia (…
Melanotic Oncocytic Metaplasia of the Nasopharynx: An Unusual Case Report
2021
Introduction: Melanotic oncocytic metaplasia of the nasopharynx is an uncommon disease, usually asymptomatic, that could be misdiagnosed for melanoma, because of its macroscopic features. For this reason, is necessary to know it thoroughly and to take it into account in the differential diagnosis. Case Report: A 69-year-old Italian woman presented to our Otorhinolaryngology Clinic with a 1-month history of sore throat. She has been a smoker for several years. During the nasopharyngoscopic examination, grey-brown, irregular and slightly elevated lesions, measuring few millimetres, were found near the right Eustachian tube opening. The preliminary diagnostic hypothesis was malignant disease…
Adhesive capsulitis in a patient affected by KBG Syndrome
2021
Background and Case presentation: KBG syndrome is a multiple congenital anomaly syndrome with variable presentation. Many physical anomalies also affect the orthopaedic field. We present a case of a young woman with diagnosis of KBG syndrome that is also affected by joint stiffness and adhesive capsulitis to the shoulders. Discussion: Many other cases have been reported to present joint stiffness and formation of keloids. Adhesive capsulitis is known to be related to autoimmune pathologies and endocrinological disorders. KBG syndrome is caused by heterozygous mutation in ANKRD11 gene and few patients with hypermobility of the joints have also been reported. Conclusions: The KBG syndrome mig…
A comparison of some simple methods to identify geographical areas with excess incidence of a rare disease such as childhood leukaemia
1999
SUMMARY Six statistics are compared in a simulation study for their ability to identify geographical areas with a known excess incidence of a rare disease. The statistics are the standardized incidence ratio, the empirical Bayes method of Clayton and Kaldor, Poisson probability, a statistic based on the B statistics are compared for the proportion of true high-risk areas identi"ed in the top 1 per cent and 10 per cent of ranked areas. One of the PW statistics performed consistently well under all circumstances, although the results for the BT statistic were marginally better when only the top 1 per cent of ranked areas was considered. The standardized incidence ratio performed consistently …
A Modification of Stone's Test for Trend for Binary Outcome
1998
STONE (1988) suggested the first isotonic regression estimator as a tool for drawing inferences on possibly increased cancer case counts among several subregions around a putative source. He assumed the case counts to be Poisson distributed and therefore introduced a rare disease assumption into his approach. However, when analyzing cross sectional data one would rather refer to prevalence estimates among these subregions around a point risk source (for example the origin of chemical fallout). Therefore we applied antitonic regression estimation in Binomial distributions to derive a test statistic and a p value to test for a possible trend in the observed prevalence data around the putative…
Isolated osteoblastoma of the cuboid bone: A case report and review of the literature
2020
Osteoblastoma is a relatively rare, benign, bone-forming tumor, commonly observed in the second and third decades of life. Spine and the long tubular bones are the most common sites of involvement. Osteoblastoma is infrequently seen in other sites, including the bones of hand and foot. A rare case of a 35-year-old man that presented an osteoblastoma of the cuboid bone is reported. The patient was treated with surgical resection and grafting. After the intervention, the patient recovered with no clinical and radiological evidence of recurrence after one year of follow-up. Several cases of osteoblastoma-like variant of osteosarcoma of the cuboid have been previously reported, but, to our know…
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
2011
Mutations in genes encoding ciliary components cause ciliopathies, but how many of these mutations disrupt ciliary function is unclear. We investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel (MKS) and Joubert (JBTS) syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2, and Cc2d2a. Components of the Tectonic ciliopathy complex colocaliz…
Familial amyloidosis: great progress for an orphan disease.
2015
Familial amyloidosis: Great progress for an orphan disease Ana Paula Barreiros1,2,*, Gerd Otto3, Bita Kahlen1, Andreas Teufel1,2, Peter R. Galle1 1Department of Internal Medicine I, Universitatsmedizin of the Johannes Gutenberg-University Mainz, Germany; 2Department of Internal Medicine I, Universitatsklinikum of the University Regensburg, Germany; 3Department of Hepatobiliary and Transplantation Surgery, Universitatmedizin of the Johannes Gutenberg-University Mainz, Germany. *Corresponding author. Address: Universitatsklinikum Regensburg, Department of Internal Medicine I, Franz-Josef-Strauss Allee 11, 93053 Regensburg, Germany. Tel.: +49 941-944-7021. E-mail address: Ana.Barreiros@ukr.de …
Splenic lymphoma with complex gastro-spleno-diaphragmatic fistula: 3D laparoscopic multivisceral resection. The first literature case report
2020
Abstract Introduction Gastrosplenic fistula is a rare disease involving stomach and spleen that can lead to dangerous complications like massive gastrointestinal bleeding. Diffuse large B-cell lymphoma (DLBC) is the principal pathological cause of gastrosplenic fistula. Case report We report a case of A 76-year-old caucasian woman came to the emergency room with fever for two week and gravative pain in left upper quadrant of the abdomen. CT scan of thorax and abdomen demonstrated an inhomogeneous hypodense large lymphomatous mass (10 × 6 cm) of upper pole of the spleen deformating medial profile and infiltrating gastric fundus and left diaphragm. with the diagnosis of complex gastro-splenic…
Sunct syndrome. Report of a case and treatment update
2015
Short-lasting unilateral neuralgiform headache attacks with conjuntival injection and tearing (SUNCT) is considered a rare trigeminal autonomic cephalgias, a group of primary headache disorders characterized by brief episodes of severe unilateral headache in the distribution territory of the trigeminal nerve, accompanied by prominent ipsilateral and cranial parasympathetic autonomic features. The present report describes a SUNCT syndrome in a 64-year-old male who had been diagnosed with trigeminal neuralgia several years ago. The patient reported stabbing pain in the orbital zone and in the left upper maxillary region, of great intensity, brief duration, and a frequency of 20-100 attacks a …