OpenMed/multicare-articles huggingface dataset:
Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions
Authors: Ewa Golanska, Agata Gajos, Monika Sieruta, Malgorzata Szybka, Monika Rudzinska, Stanislaw Ochudlo, Tomasz Kmiec, Pawel P Liberski, Andrzej Bogucki
Journal: PLoS One (2015)
MeSH terms: Apoptosis Regulatory Proteins / genetics, DNA-Binding Proteins / genetics, Dystonia / epidemiology, Dystonia / genetics, Mutation, Nuclear Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Aged, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Humans, Infant, Male, Middle Aged, Point Mutation, Poland / epidemiology, Polymorphism, Genetic, Young Adult, Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins, THAP1 protein, human

The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in two patients, and c.167A>G (p.Glu56Gly), found in one patient. The same variations were present also in the patients' symptomatic as well as asymptomatic relatives. Mutation penetration in the analyzed families was 50-66.7%. In the fourth patient, a novel c.-249C>A substitution in the promoter region was identified. The patient, initially suspected of idiopathic isolated dystonia, finally presented with pantothenate kinase 2-associated neurodegeneration phenotype and was a carrier of two PANK2 mutations. This is the first identified NBIA1 case carrying mutations in both PANK2 and THAP1 genes. In all symptomatic THAP1 mutation carriers (four probands and their three affected relatives) the first signs of dystonia occurred before the age of 23. A primary localization typical for DYT6 dystonia was observed in six individuals. Five subjects developed the first signs of dystonia in the upper limb. In one patient the disease began from laryngeal involvement. An uncommon primary involvement of lower limb was noted in the THAP1 and PANK2 mutations carrier. Neither of these THAP1 substitutions were found in 150 unrelated healthy controls. To the contrary, we identified a heterozygous C/T genotype of c.57C>T single nucleotide variation (p.Pro19Pro, rs146087734) in one healthy control, but in none of the patients. Therefore, a previously proposed association between this substitution and DYT6 dystonia seems unlikely. We found also no significant difference between cases and controls in genotypes distribution of the two-nucleotide -237-236 GA>TT (rs370983900 & rs1844977763) polymorphism.
Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans
Authors: Ensel Oh, Hae Min Jeong, Mi Jeong Kwon, Sang Yun Ha, Hyung Kyu Park, Ji-Young Song, Yu Jin Kim, Jong-Sun Choi, Eun Hee Lee, Jeeyun Lee, Yoon-La Choi, Young Kee Shin
Journal: PLoS One (2017)
MeSH terms: Clonal Evolution, Dermatofibrosarcoma / pathology, Neoplasm Metastasis, Case Reports, Collagen Type I / genetics, Collagen Type I, alpha 1 Chain, Dermatofibrosarcoma / genetics, Gene Fusion, Humans, Male, Middle Aged, Proto-Oncogene Proteins c-sis / genetics, Recurrence, Collagen Type I, Collagen Type I, alpha 1 Chain, Proto-Oncogene Proteins c-sis

Dermatofibrosarcoma protuberans (DFSP) is a very rare soft tissue sarcoma, generally of low-grade malignancy. DFSP is locally aggressive with a high recurrence rate, but metastasis occurs rarely. To investigate the mechanism of metastasis in DFSP, we analyzed the whole exome sequencing data of serial tumor samples obtained from a patient who had a 10-year history of recurrent and metastatic DFSP. Tracking various genomic alterations, namely somatic mutations, copy number variations, and chromosomal rearrangements, we observed a dramatic change in tumor cell population during the occurrence of metastasis in this DFSP case. The new subclone that emerged in metastatic DFSP harbored a completely different set of somatic mutations and new focal amplifications, which had not been observed in the primary clone before metastasis. The COL1A1-PDGFB fusion, characteristic of DFSP, was found in all of the serial samples. Moreover, the break position on the fusion gene was identical in all samples. Based on these observations, we suggest a clonal evolution model to explain the mechanism underlying metastasis in DFSP and identified several candidate target genes responsible for metastatic DFSP by utilizing The Cancer Genome Atlas database. This is the first study to observe clonal evolution in metastatic DFSP and provide insight for a possible therapeutic strategy for imatinib-resistant or metastatic DFSP.
Christ-siemens-touraine syndrome: a case report and review of the literature
Authors: Sepideh Mokhtari, Saeedeh Mokhtari, Ali Lotfi
Journal: Case Rep Dent (2012)

ECTODERMAL DYSPLASIA IS A RARE DISORDER WITH DEFECTS IN TWO OR MORE OF THE FOLLOWING STRUCTURES: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome.
Case Report: Severe Anemia Associated With an Abomasal Fibrosarcoma in a Goat
Authors: Matthias Gerhard Wagener, Georg Beythien, Markus Sterneberg, Antje Polifka, Thekla Großmann, Wolfgang Baumgärtner, Martin Ganter
Journal: Front Vet Sci (2022)
Keywords: blood loss, blood transfusion, hematocrit, leiomyoma, melena, neoplasia, small ruminants
MeSH terms: Case Reports

A 10-year-old female goat was presented to the clinic with lethargy, emaciation, and pale mucous membranes. Laboratory diagnosis revealed severe anemia with regenerative character as well as melena. Blood transfusions were administered, but the animal's condition continued to deteriorate, so it was euthanized. The main finding in the necropsy was an abomasal neoplasia with two metastases in the mesenterium which was positive for vimentin, but negative for smooth muscle actin and c-kit using immunohistochemistry, indicating a fibrosarcoma that might have contributed to gastrointestinal blood loss. Further pathological findings consisted of changes in the liver cells as well as a cervical leiomyoma. These findings illustrate that intestinal blood loss due to neoplasia should also be considered in older goats with anemia.
Primary Hydatid Cyst of the adrenal gland: A case report and a review of the literature
Authors: Skander Zouari, Chakroun Marouene, Hana Bibani, Ahmed Saadi, Anis Sellami, Linda Haj Kacem, Ahlem Blel, Abderrazek Bouzouita, Amine Derouiche, Riadh Ben Slama, Soumaya Rammeh, Haroun Ayed, Mohamed Chebil
Journal: Int J Surg Case Rep (2020)
Keywords: adrenal gland, hydatid cyst, surgical approach, unusual location
MeSH terms: Case Reports

Introduction:
In North Africa which is an endemic region for Hydatid Cyst, Tunisia is considered as an endemic country. The liver and lungs are common locations for Hydatid Cysts, whereas the Adrenal Glands are unusual and rare locations.
Presentation of case:
Here is a report of primary Hydatid Cyst in a 55-year old patient, with left hypochondrium pain as chief complain. No remarkable findings were revealed by physical examination and blood analysis showed normal range. Hydatid serology was negative. The diagnosis of Hydatid Cyst was suspected based on CT Scan results which showed a well-circumscribed, non-enhanced, multi-cystic, 12 cm mass with scattered calcifications located in the left adrenal gland. Therefore, the patient underwent an open surgery with resection of the protruding dome of the cyst as it was attached to the renal pedicle, the pancreatic tail, the spleen and the jejunum. The final pathological examination of the specimen led to a Hydatid Cyst.
Discussion:
Throughout an extensive literature review that we have made, we have analyzed 54 reported cases, with their clinical presentations, biological exams, radiological features and surgical managements. The treatment should be surgical and has to be as conservative as possible. The prevention of the parasite transmission has to be the cornerstone of the disease management.
Conclusion:
The hydatid cyst of the adrenal gland remains a rare diagnosis that has to be evoked in case of an adrenal gland cyst, especially in an endemic country.
Oral lesions associated with nevirapine-related Stevens Johnson syndrome: A report of four cases
Authors: S Balasundaram, K Ranganathan, K Umadevi, R Gunaseelan, N Kumaraswamy, Sunithi Solomon, Bella Devaleenol, Pradeep Ambrose
Journal: J Oral Maxillofac Pathol (2011)
Keywords: hiv, nevirapine, steven johnson syndrome, oral lesions, ulcers
MeSH terms: Case Reports

Nevirapine is a non-nucleoside reverse transcriptase inhibitor, widely used in combination with other antiretroviral agents for treatment of HIV infection. Steven Johnson syndrome (SJS) is the major toxicity of nevirapine. We describe here four cases of SJS in HIV seropositive patients following nevirapine therapy. In all four cases cutaneous hypersensitivity reaction was seen with extreme oral lesions, three patients presented clinically with elevated liver enzymes and hepatitis, and two patients had ocular involvement.
Ameloblastoma of the nasal septum origin: a case report
Authors: Hanna Temporale, Tomasz Zatoński, Anna Roszkowska, Tomasz Kręcicki
Journal: Case Rep Otolaryngol (2013)

Background. Ameloblastoma is the most common odontogenic tumor. It represents about 1% of all tumors of the jaw. Extragnathic location of the ameloblastoma is typical and extremely rare. Case Report. We report a case of ameloblastoma of the nasal septum origin, causing nasal obstruction. According to our information, this is the first reported case of ameloblastoma coming from the nasal septum as a primary tumor without maxillary sinus involvement. Conclusions. Ameloblastoma can not only locate in the maxilla and mandible, but also in other regions of the craniofacial. Ameloblastoma should be considered in the differential diagnosis of tumors causing nasal obstruction. Nonspecific clinical features of sinonasal ameloblastoma make it extremely important to perform accurate diagnostic imaging and histopathological examination.
A pulmonary artery pseudoaneurysm caused by concurrent chemoradiation therapy for lung cancer
Authors: Jung Ho Kim, Sang Hoon Han
Journal: Pak J Med Sci (2015)
Keywords: aneurysm, concurrent chemoradiation, lung cancer, pulmonary artery
MeSH terms: Case Reports

Pulmonary artery pseudoaneurysms are rarely associated with lung cancer, and to our knowledge, have never been reported as a complication of concurrent chemoradiation therapy for lung cancer. We here report on a 64-year-old man with stage IIIA lung cancer who achieved partial response with concurrent chemoradiation therapy. However, 11 weeks later, he presented with massive hemoptysis, and computed tomography revealed a pulmonary artery pseudoaneurysm. From the findings of this case, we conclude that a pulmonary artery pseudoaneurysm, although rare, warrants attention when concurrent chemoradiation therapy is performed for lung tumors adjacent to the pulmonary artery.
A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH
Authors: Sachin K Majumdar, Tess Jacob, Allen Bale, Allison Bailey, Jeffrey Kwon, Terence Hughes, Andrea L Barbieri, William Laskin, Paul Cohen, Tobias John Eric Carling
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion. It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively. The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging. Case Presentations. We report a mother and daughter with a novel heterozygous variant in the CaSR gene resulting in a serine to leucine substitution at position 147 (S147L) of the CaSR. Both patients had mild hypercalcemia, relatively low urinary calcium excretion, elevated calcitriol, and low-to-normal intact PTH. The proband (daughter) presented with symptoms associated with hypercalcemia and was incidentally found to have a bony lesion suspicious for osteitis fibrosa cystica, and she was also diagnosed with sarcoidosis. Subtotal parathyroidectomy revealed normal-weight parathyroid glands comprised of 50-80% parathyroid epithelial cells, which has been documented as within the spectrum of normal. Her mother had no symptoms, and no intervention was pursued. Conclusion. We report a novel variant in the CaSR associated with FHH in two patients with similar biochemical features yet differing clinical manifestations. While the relationship of the bony findings and parathyroid histology with this variant remains unclear, these cases enrich our knowledge of CaSR physiology and provide further examples of how varied the manifestations of FHH can be.
Case Report: Treatment of systemic mastocytosis with sunitinib
Authors: Gerhard J Molderings, Lawrence B Afrin, Hans-Jörg Hertfelder, Stefan Brettner
Journal: F1000Res (2017)
Keywords: mast cell, sunitinib, systemic mast cell activation disease, systemic mastocytosis, tyrosine kinase inhibitors

Mast cell activation disease typically presents as chronic multisystem polymorbidity of generally inflammatory ± allergic theme. Presently, treatment of the rare, cytoproliferative variant systemic mastocytosis employs empirically selected therapies to impede mast cell mediator production and action and, when necessary, inhibition of proliferation. Some tyrosine kinase inhibitors (TKIs) have been used successfully in uncommon cases of systemic mastocytosis not bearing that disease's usual imatinib-resistant KIT D816V mutation. Recently, sunitinib, a multi-targeted TKI, had been successful in a case of systemic mast cell activation syndrome. In addition, most allergy is principally a mast cell activation phenomenon, and sunitinib has been shown helpful in controlling a murine model of oral allergy syndrome. Here, we present the first use of sunitinib in systemic mastocytosis.
Abundant neutrophil extracellular traps in thrombus of patient with microscopic polyangiitis
Authors: Daigo Nakazawa, Utano Tomaru, Chiho Yamamoto, Satoshi Jodo, Akihiro Ishizu
Journal: Front Immunol (2012)
Keywords: mpo-anca, deep vein thrombosis, histone-citrullination, microscopic polyangiitis, neutrophil extracellular traps

This is a case study of a patient diagnosed with microscopic polyangiitis (MPA) and complicated with deep vein thrombosis (DVT), who died of respiratory failure despite treatment. Autopsy revealed severe crescentic glomerulonephritis and massive alveolar hemorrhage. The thrombus contained abundant neutrophils. Although it is reported that patients with ANCA-associated vasculitis (AAV) have an increased risk of DVT, it remains elusive why they are prone to thrombosis. A recent study has demonstrated the presence of neutrophil extracellular traps (NETs), a newly recognized mode of neutrophil cell-death, in glomerular crescents of MPA patients. Interestingly, NETs were identified in the thrombus as well as in the glomerular crescents in the present case. When compared to other thrombi unrelated to MPA, the amount of NETs was significantly greater in the MPA patient. On the other hand, NETs are critically involved in thrombogenesis because histones within NETs can bind platelets and blood coagulants. Although this is important in regard to containment of microbes within NETs, excessive NETs could cause thrombosis. The collective findings suggest the possibility that thrombosis could be critically associated with MPA via NETs, and that NETs could be a therapeutic target in MPA patients.
A false case of clozapine-resistant schizophrenia
Authors: J P Maia-de-Oliveira, J P Pinto, V Alexandre, J P Machado-de-Sousa, S L Morais, C Chaves, A C Sakamoto, A W Zuardi, J A S Crippa, J E Hallak
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

One of the subjects that most concerns physicians is treatment-resistance. About 30%-60% of schizophrenia patients do not respond adequately to antipsychotic treatment and are known as refractory schizophrenia patients. Clozapine has been the drug of choice in such cases. However, approximately 30% of them do not respond to clozapine either. Here, we describe a patient with an initial diagnosis of refractory schizophrenia who had a history of dramatic aggressiveness. However, in this case, "refractoriness" was a wrong diagnosis. A case of psychosis secondary to epilepsy had been treated as schizophrenia for almost 20 years. Reports like this one are important because they remind us of how a thorough investigation can lead to the correct diagnosis and improve the patient's prognosis.
Three-year-old traumatic liver injury patient treated successfully using transcatheter arterial embolization
Authors: Atsuyoshi Iida, Tsuyoshi Ryuko, Masaichi Kemmotsu, Hiroaki Ishii, Hiromichi Naito, Atsunori Nakao
Journal: Int J Surg Case Rep (2020)
Keywords: case report, hepatic injury, non-operative management, pediatric, transarterial embolization
MeSH terms: Case Reports

Introduction:
Liver injury is the most vulnerable to blunt abdominal trauma. Diagnostic evaluation and treatment of blunt liver trauma in children have changed essentially over the last decades.
Presentation of case:
A 3-year-old girl, weighing 10 kg was run over by a car and admitted to our hospital. Due to the liver injury and increased intra-abdominal hemorrhage confirmed by computed tomography, emergent transcatheter arterial embolization (TAE) was performed. Hemostasis was successfully obtained without complications. The patient had a good postoperative course and was discharged on the 9th day after admission.
Discussion:
To the best of our knowledge, this case is the youngest and lowest weight emergency TAE success cases of childhood liver injury. TAE is an alternative to laparotomy and a useful procedure to accomplish nonsurgical management in adult who are hemodynamically stable and have no other associated injury requiring laparotomy. On the other hand, TAE is considered to have some complications in child cases because of the small diameter of the artery and the tendency to spasm. Our case showed that TAE can be a safe option for emergency hemostasis in pediatric trauma cases weighing 10 kg.
Conclusion:
Emergency physicians must be aware that radiological intervention is an important adjunct to management of childhood liver injury.
Case report: Mounded and refractory keratoses (MARK), a novel presentation of pemphigus vulgaris
Authors: Stephanie T Le, Atrin M Toussi, Jordan E Nava, Lauren A Downing, Maxwell A Fung
Journal: Front Med (Lausanne) (2023)
Keywords: blistering, immunobullous, pemphigus, pemphigus vegetans, pemphigus vulgaris
MeSH terms: Case Reports

Pemphigus vulgaris (PV) is a rare immunobullous disease. Although it classically presents as generalized flaccid blisters affecting the skin and mucosae, atypical cases of PV can be diagnostically challenging. Herein, we report an underrecognized non-blistering manifestation of pemphigus vulgaris, which we call mounded and refractory keratoses (MARK). MARK presents as exuberant scaling plaques on the scalp, often in the skin of color. When MARK features are present, pemphigus vulgaris is prone to misdiagnosis, clinically and histopathologically, leading to delays in appropriate treatment. Specifically, biopsies from these patients may resemble acantholytic dyskeratosis, resulting in initial misdiagnosis. Thus, recognizing this presentation may aid physicians in diagnosing and monitoring the recurrence of pemphigus vulgaris.
Laparoscopic Partial Nephrectomy for Renal-Cell Carcinoma During Pregnancy
Authors: Murat Binbay, Emrah Yuruk, Burak Ucpinar, Zerrin Binbay, Aykut Colakerol, Ahmet Yaser Muslumanoglu
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
The incidence of renal-cell carcinoma (RCC) is low during pregnancy. There are different approaches for timing of surgery and treatment modalities for RCC in pregnant women in the literature. To our knowledge, this is the first laparoscopic partial nephrectomy case in a pregnant woman.
Case presentation:
Herein, we present a 34-year-old woman with a renal mass at her 14th gestational week. She was admitted to our clinic after a right renal mass was incidentally diagnosed during routine antenatal ultrasonography. MRI revealed a completely endophytic tumor of 6 × 6.5 × 6.5 cm, located in the upper half of the right kidney. We performed laparoscopic partial nephrectomy in our patient and the postoperative course was uneventful.
Conclusion:
This is the first presented laparoscopic partial nephrectomy case in a pregnant patient. Nephron-sparing surgeries can be performed laparoscopically in appropriate sized renal tumors in suitable pregnant patients.
Elective surgery treatment in patient living in rural area with history of recurrent primary spontaneous pneumothorax: A procedure to avoid in absence of pneumothorax. A case report
Authors: Umberto Caterino, Davide Di Natale, Dario Amore, Roberto Scaramuzzi, Marcellino Cicalese, Pasquale Imitazione, Albina Palma, Carlo Curcio
Journal: Int J Surg Case Rep (2018)
Keywords: primary spontaneous pneumothorax, recurrence, video-assisted thoracoscopic surgery

Introduction:
Pneumothorax is defined as accumulation of air in the pleural space with secondary lung collapse resulting in dyspnea or chest pain. Currently the optimal management of spontaneous pneumothorax has been standardized, but the question of elective surgery treatment remains unresolved in patients living in rural area with history of recurrent Primary spontaneous pneumothorax [PSP].
Presentation of case:
A 41 years-old white man living in rural area, with a history of recurrent right spontaneous pneumothorax (three subsequent episodes) treated by positioning of chest tube, was admitted to our unit. No respiratory symptoms and normal physical exam were observed on admission although anxiety states was noted. Chest CT scan showed small apical bullae in the right upper lobe without cystic change in the pulmonary parenchyma.
Discussion:
Recurrence of primary spontaneous pneumothorax represents a complication most frequently occurring within the first year. Among the treatment options, surgical management is needed in 25-50% of all patients suffering from PSP, due to persistent air leak or recurrence. We report the operative complications after elective surgery in a white man living in rural area with a history of recurrent right primary spontaneous pneumothorax.
Conclusion:
This case report highlights that elective surgery in patients living in rural area with history of recurrence PSP can lead to post-operative complications as bleeding or prolonged air leaks following the lysis of multiple pleural adhesions.