OpenMed/multicare-articles huggingface dataset:
Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review
Authors: Hanrui Yu, Jie Wu, Jinju Cong, Mingxiong Chen, Yifei Huang, Jifeng Yu, Liqiang Wang
Journal: Front Genet (2023)
Keywords: hsan, prdm12, corneal disease, hereditary and sensory autonomic neuropathy, insensitivity to pain, self-mutilation behavior

Background: PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known. Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 mutation were collected. A literature review was performed, and the clinical characteristics of 20 cases diagnosed with a mutation of PRDM12 were summarized and analyzed. Results: Two patients had pain insensitivity, tongue and lip defects, and corneal ulcers. The genomic analysis results showed that variants of PRDM12 were detected in the two families. The case 1 patient carried heterozygous variations of c.682+1G > A and c.502C > T (p.R168C), which were inherited from her father and mother, respectively. We enrolled 22 patients diagnosed with CIP through a literature review together with our cases. There were 16 male (72.7%) and 6 female (27.3%) patients. The age of onset ranged from 6 months to 57 years. The prevalence of clinic manifestation was 14 cases with insensitivity to pain (63.6%), 19 cases with self-mutilation behaviors (86.4%), 11 cases with tongue and lip defects (50%), 5 cases with mid-facial lesions (22.7%), 6 cases with distal phalanx injury (27.3%), 11 cases of recurrent infection (50%), 3 cases (13.6%) with anhidrosis, and 5 cases (22.7%) with global developmental delay. The prevalence of ocular symptoms was 11 cases (50%) with reduced tear secretion, 6 cases (27.3%) with decreased corneal sensitivity, 7 cases (31.8%) with disappeared corneal reflexes, 5.5 cases (25%, 0.5 indicated a single eye) with corneal opacity, 5 cases (22.7%) with corneal ulceration, and 1 case (4.5%) with a corneal scar. Conclusion: The syndrome caused by PRDM12 mutation is a clinically distinct and diagnosable disease that requires joint multidisciplinary management to control the development of the disease and minimize the occurrence of complications.
Two Cases of Sinonasal Non-Intestinal-Type Adenocarcinoma with Squamoid Morules Expressing Nuclear β-Catenin and CDX2: A Curious Morphologic Finding Supported by Molecular Analysis
Authors: Tatiana M Villatoro, Stacey K Mardekian
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Sinonasal non-intestinal-type adenocarcinoma (non-ITAC) is a rare, morphologically diverse neoplasm of the head and neck. Squamoid morular metaplasia has recently been reported as an occasional finding in non-ITAC. Interestingly, these squamoid morules often show aberrant expression of CDX2 as well as nuclear expression of β-catenin, similar to other tumors that show this type of metaplasia, but the underlying mechanism responsible for this finding is not completely understood. We present two cases of low-grade non-ITAC with squamoid morules coexpressing CDX2 and nuclear β-catenin by immunohistochemistry, both of which were found to harbor a mutation in CTNNB1, the gene encoding β-catenin. This finding provides support that an alteration in the β-catenin pathway, including mutations in the β-catenin gene itself, is responsible for this recently described morphologic phenomenon in non-ITAC.
Chronic Skin Lesions as the Presentation of Diffuse Cutaneous Leishmaniasis in the HIV-Infected Woman: A Case Report and Review of Literatures
Authors: Mohammad Ali Davarpanah, Amirreza Dehghanian, Ali Akbari, Behnam Dalfardi
Journal: Galen Med J (2019)
Keywords: hiv, infectious disease medicine, leishmaniasis, skin diseases
MeSH terms: Case Reports

Background:
Cutaneous leishmaniasis (CL) is the most form of leishmaniasis that caused by intracellular parasites, Leishmania.
Case report:
A 39-year-old woman, known case of HIV infection, presented with a 6-month history of skin lesions initially on her face, then extending onto the chest, abdomen, and extremities. Laboratory examinations revealed leukopenia and a CD4 cell count of 280 cells / mm3. A biopsy was taken from skin lesions, and histopathological studies showed aggregates of macrophages filled with numerous Leishman bodies, the diagnosis of diffuse CL was confirmed. Consequently, she received liposomal amphotericin B (total dose of 40 mg/kg) as a case of diffuse CL. The skin lesions showed significant improvement after completion of treatment.
Conclusion:
Diffuse CL should be considered as a differential diagnosis in all patients with diffuse skin lesions mainly in the cases that suffer from disorders of cell-mediated immunity.
Recommendations for the management of tyrosinaemia type 1
Authors: Corinne de Laet, Carlo Dionisi-Vici, James V Leonard, Patrick McKiernan, Grant Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos-Morell, Ute Spiekerkötter
Journal: Orphanet J Rare Dis (2013)
MeSH terms: Tyrosinemias / therapy, Research Support, Non-U.S. Gov't, Review, Bone Density, Cyclohexanones / therapeutic use, Female, Humans, Infant, Newborn, Liver Transplantation, Neonatal Screening, Nitrobenzoates / therapeutic use, Pregnancy, Psychometrics, Tyrosinemias / diagnosis, Tyrosinemias / diet therapy, Tyrosinemias / drug therapy, Cyclohexanones, Nitrobenzoates, nitisinone

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies.The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management.
Delayed migration of a peripherally inserted central venous catheter to the azygos vein with subsequent perforation
Authors: Rukshan Fernando, Yu Jin Lee, Nasir Khan, Farhat Kazmi
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Peripherally inserted central venous catheters (PICCs) are often used for infusion of chemotherapeutic agents, long-term antibiotics or total parenteral nutrition (TPN). We present a case of delayed migration of a PICC inserted for TPN from the superior vena cava into the azygos vein that was not initially recognized on chest radiographs or CT scan. This subsequently led to azygos perforation and extravasation of the TPN solution into the mediastinal, pleural and pericardial spaces. Several anatomical and procedural factors predispose to PICC migration. In this patient, the risk of PICC migration was increased by left-sided insertion and variant azygos anatomy. If a curve in the distal tip of a PICC is seen on a frontal chest radiograph, azygos malposition should be suspected and confirmed with a lateral radiograph, CT scan or catheter injection. This is because azygos malposition increases the risk of venous perforation and needs to be corrected.
Orbital Burkitt's Lymphoma: An Aggressive Presentation
Authors: Gian Paolo Giuliari, Ama Sadaka, Maria Angelica Cortez, Antonina Paniagua
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Objective. To present the case of an aggressive orbital Burkitt's lymphoma. Methods. Chart review. Case Presentation. A 24-year-old Haitian man came to our clinic complaining of rapidly progressive right eye proptosis. On examination, a large friable exophytic mass with necrotic areas and exudative/hemorrhagic secretions was noted protruding from his right orbit. A biopsy revealed the characteristic "starry-sky" appearance of a Burkitt lymphoma. The patient died shortly after due to complications from systemic involvement. Discussion. This case is meant to raise physicians' awareness on the healthcare situation in some underdeveloped countries, emphasizing the importance of education in preventive medicine.
CASE REPORT Idiopathic Tumoral Calcinosis of the Nontraumatic Thumb
Authors: Ginard I Henry, Chad M Teven
Journal: Eplasty (2012)

We report a case of idiopathic tumoral calcinosis localized to the thumb without prior trauma or surgery. Initial physical examination and imaging studies were suggestive of more common etiologies of thumb pain. After treatment failure, a biopsy specimen revealed calcium phosphate salt deposition in the soft tissue around the metacarpophalangeal joint, which was treated by excision of the tumoral calcinosis masses. Tumoral calcinosis can occur idiopathically in the hand and digits and should be considered when other more common pathologies of thumb pain have been ruled out.
Calciphylaxis in a nondialysis patient treated with sodium thiosulfate and high dose of oxygen
Authors: Anawin Sanguankeo, Natanong Thamcharoen, Sikarin Upala
Journal: Clin Nephrol Case Stud (2017)
Keywords: calciphylaxis, nondialysis, sodium thiosulfate
MeSH terms: Case Reports

Background:
Calciphylaxis in a nondialysis patient is a rare condition and is characterized by calcific deposition in tissue. We present a case of calciphylaxis in a nondialysis patient who was diagnosed by clinical presentation and skin biopsy and was treated with sodium thiosulfate with improvement of skin lesions.
Case:
A 43-year-old female with type 2 diabetes and atrial fibrillation taking oral anticoagulation medication presented with reddish drainage from the right buttock. On physical examination, a large perirectal abscess overlying necrosis was found. She also developed acute kidney injury with creatinine of 3.7 mg/dL at peak from 0.8 mg/dL at baseline. She received antibiotics intravenously and wound debridement. During hospitalization, she developed areas of numerous painful erythematous lesions with central dusky necrosis on bilateral lower extremities. Punch biopsy was done, which initially revealed small-vessel vasculitis. However, those lesions did not respond to steroid therapy. A second biopsy was done showing extensive fat necrosis and medial calcification of vessel walls consistent with calciphylaxis. She was treated with high-flow oxygen and sodium thiosulfate intralesionally and intravenously for 6 months. The lesions remarkably reduced in size and were less painful on follow-up.
Conclusion:
High-dose oxygen and sodium thiosulfate could potentially be effective treatments for calciphylaxis in nondialysis patients.
Case of Ruptured Ectopic Pregnancy in the Uterosacral Ligament and Review of the Literature
Authors: Yasmin Abedin, Kanchi Chadha
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Pregnancies that implant on the uterosacral ligament are rare. Here, we describe a case of ruptured ectopic pregnancy in the left uterosacral ligament in a patient with potential risk factors including possible endometriosis and recent hysteroscopic procedure. A 29-year-old female, para 0, presented to the emergency department with generalized abdominal pain. Pelvic examination was significant for fullness in the posterior cul-de-sac. Laboratory values were significant for beta-human chorionic gonadotropin (hCG) level of 6311 mIU/mL. Sonogram findings were significant for no intrauterine gestation, a 6.9 × 4.6 × 4.7 cm3 complex left adnexal mass, and moderate free fluid within the posterior cul-de-sac. The patient underwent laparoscopy, which revealed hemoperitoneum and unremarkable bilateral fallopian tubes and ovaries. An abnormal area was noted in the left uterosacral ligament. Tissue was bluntly removed and pathologically confirmed as chorionic villi within the left uterosacral ligament. After one week, her beta-hCG decreased to 784 mIU/mL. After two weeks, she was seen as an outpatient and was doing well without any symptoms. More information is required regarding these unique pregnancies to help understand the pathophysiology and determine the management.
Island Latissimus Dorsi Muscle Flap and a Perforator Flap in Repairing Post-Gunshot Thoracic Spine CSF Fistula: Case Presentation
Authors: Nangole F Wanjala, Khainga Ominde Stanley
Journal: Case Rep Surg (2015)

Persistent posttraumatic CSF fluid leakage may present a challenge to manage. Failure to address the leakage may result in complications such as meningitis, septicemia, radiculopathy, muscle weakness, and back pains. While the majority of the leakages may be managed conservatively, large dura defects as a result of gunshot wounds or motor vehicle accidents are best managed by surgical interventions. This may range from primary closure of the defect to fascial grafts, adhesive glues, and flaps. We present our experience with the use of flaps in a patient who had sustained such wounds in the thoracic spine. An island latissimus dorsal flap and a perforator fasciocutaneous flap were used to close the defect. Postoperatively the patient recovered well and the wounds healed without any complications.
Bilateral Intratesticular Spermatoceles in a Critically Endangered Dama Gazelle ( Nanger dama mhorr)
Authors: Riley E Thompson, Holly J Haefele, Daniel P O'Neil, Budhan S Pukazhenthi
Journal: Case Rep Vet Med (2020)
MeSH terms: Case Reports

Dama gazelles (Nanger dama mhorr) are considered critically endangered by the IUCN Red List of Threatened Species since the wild population is comprised of fewer than 200 animals. Several zoos in Europe and some private ranches in the US (Texas) maintain this species in captivity as a hedge against extinction. A routine reproductive exam on an adult male revealed bilateral cysts in the testicular parenchyma. The fluid in the cysts contained copious, moderately progressive motile spermatozoa. Following examination, the gazelle was diagnosed with bilateral intratesticular spermatoceles. Electroejaculation yielded 1.5 ml of semen containing 387 × 106 total sperm with 50% motility and 45% morphologically normal sperm. The spermatoceles did not appear to cause pain or dysfunction, so no treatment was performed at this time. Since fewer than 10 animals are managed in captivity in the US, no intervention (castration/hemicastration) was considered.
Case Report: Isolated Idiopathic Saccular Dysfunction
Authors: Sofia Waissbluth, Javier Oyarzún
Journal: Front Neurol (2021)
Keywords: case report, dizziness, otolith, saccule, vertigo
MeSH terms: Case Reports

Advances in vestibular testing have now allowed us to test each semicircular canal as well as the utricle and saccule, independently. This has led to the discovery of new patterns of vestibular dysfunction that were once impossible to evaluate. This report describes the case of a 20-year-old woman with a 2-month history of recurrent dizziness. She had a complete audiovestibular assessment. The only abnormality observed was the absence of a cervical vestibular-evoked myogenic potential response for the right side, hence an isolated saccular dysfunction. In conclusion, isolated otolithic dysfunction is probably an overlooked and neglected clinical presentation. Its true incidence is unknown, and further research is needed to understand this clinical entity.
Ultrasound-Guided Forearm Nerve Blocks: A Novel Application for Pain Control in Adult Patients with Digit Injuries
Authors: Richard Amini, Parisa Patricia Javedani, Albert Amini, Srikar Adhikari
Journal: Case Rep Emerg Med (2016)

Phalanx fractures and interphalangeal joint dislocations commonly present to the emergency department. Although these orthopedic injuries are not complex, the four-point digital block used for anesthesia during the reduction can be painful. Additionally, cases requiring prolonged manipulation or consultation for adequate reduction may require repeat blockade. This case series reports four patients presenting after mechanical injuries resulting in phalanx fracture or interphalangeal joint dislocations. These patients received an ultrasound-guided peripheral nerve block of the forearm with successful subsequent reduction. To our knowledge, use of ultrasound-guided peripheral nerve blocks of the forearm for anesthesia in reduction of upper extremity digit injuries in adult patients in the emergency department setting has not been described before.
An unusual case of high hyperdiploid childhood ALL with cryptic BCR/ABL1 rearrangement
Authors: Libuse Lizcova, Zuzana Zemanova, Halka Lhotska, Jan Zuna, Lenka Hovorkova, Ester Mejstrikova, Eva Malinova, Jana Rabasova, Ivan Raska, Lucie Sramkova, Jan Stary, Kyra Michalova
Journal: Mol Cytogenet (2014)
Keywords: bcr/abl1 fusion, cgh–snp array, fish, high-hyperdiploid childhood all, ph-negative childhood all
MeSH terms: Case Reports

Background:
Both high hyperdiploidy (HeH) and the translocation t(9;22)(q34;q11) are recurrent abnormalities in childhood B-cell acute lymphoblastic leukemia (ALL) and both are used in current classification to define different genetic and prognostic subtypes of the disease. The coexistence of these two primary genetic aberrations within the same clone is very rare in children with ALL. Here we report a new case of a 17-year-old girl with newly diagnosed ALL and uncommon cytogenetic and clinical finding combining high hyperdiploidy and a cryptic BCR/ABL1 fusion and an inherited Charcot-Marie-Tooth neuropathy detected during the induction treatment.
Results:
High hyperdiploid karyotype 51,XX,+X,+4,+14,+17,+21 without apparent structural aberrations was detected by conventional cytogenetic analysis and multicolor FISH. A cryptic BCR/ABL1 fusion, which was caused by the insertion of part of the ABL1 gene into the 22q11 region, was proved in HeH clone by FISH, RT-PCR and CGH-SNP array. In addition, an abnormal FISH pattern previously described as the deletion of the 3'BCR region in some BCR/ABL1 positive cases was not proved in our patient.
Conclusion:
A novel case of extremely rare childhood ALL, characterized by HeH and a cryptic BCR/ABL1 fusion, is presented and to the best of our knowledge described for the first time. The insertion of ABL1 into the BCR region in malignant cells is supposed. Clearly, further studies are needed to determine the genetic consequences and prognostic implications of these unusual cases.
Arthroscopic All-Inside Repair of Tear of the Anterior Horn of Discoid Lateral Meniscus
Authors: Moganadass Muniandy, Sivalingam Rajagopal, Siti Hawa Tahir
Journal: Surg J (N Y) (2019)
Keywords: all-inside repair, anterior horn lateral meniscus, discoid meniscus, outside-in repair
MeSH terms: Case Reports

The anterior horn of lateral meniscus tear is usually repaired using outside-in technique. Although easy to perform, it was associated with several complications which may alter the outcome of the surgery. Here, we present a case of an adolescent girl presented with incomplete discoid lateral meniscus accompanied by tear of anterior horn. The tear was repaired using all-inside technique without any implants. We described the surgical technique and discussed the rationale.
A case of pulmonary thromboembolism due to coagulation factor V Leiden in Japan ~ usefulness of next generation sequencing~
Authors: Daisuke Sueta, Miwa Ito, Mitsuhiro Uchiba, Kenji Sakamoto, Eiichiro Yamamoto, Yasuhiro Izumiya, Sunao Kojima, Koichi Kaikita, Satoru Shinriki, Seiji Hokimoto, Hirotaka Matsui, Kenichi Tsujita
Journal: Thromb J (2017)
Keywords: leiden mutation, next generation sequencer, thromboembolism
MeSH terms: Case Reports

Background:
Because the venous thromboembolisms (VTEs) due to the coagulation factor V R506Q (FV Leiden) mutation is often seen in Caucasians, the VTE onset in Japan has not been reported.
Case presentation:
A 34-year-old man from north Africa experiencing sudden dyspnea went to a hospital for advice. The patient had pain in his right leg and a high plasma D-dimer level. A contrast-enhanced computed tomography scan revealed a contrast deficit in the bilateral pulmonary artery and in the right lower extremity. The patient was diagnosed with VTE, and anticoagulation therapy was initiated. Our targeted gene panel sequencing revealed that the occurrence of VTE was attributed to a presence of the FV Leiden mutation.
Conclusions:
This is the first report demonstrating VTE caused by the FV Leiden mutation in Japan.
Intensive Care Unit-Specific Virtual Reality for Psychological Recovery After ICU Treatment for COVID-19; A Brief Case Report
Authors: Johan H Vlake, Jasper van Bommel, Merel E Hellemons, Evert-Jan Wils, Diederik Gommers, Michel E van Genderen
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, anxiety, critical care, depression, post-intensive care syndrome, post-traumatic stress disorder, virtual reality

A substantial number of ICU survivors are expected due to the SARS-CoV-2 outbreak, who are at risk for psychological impairments, such as post-traumatic stress disorder (PTSD), anxiety, and depression. We designed a COVID-19 intensive care unit-specific virtual reality (ICU-VR) intervention and tested it on one of our COVID-19 patients. The impact of event scale-revised and the hospital anxiety and depression scale showed that this patient suffered from PTSD, anxiety, and depression on the day of the intervention. One week after receiving ICU-VR, levels of PTSD, anxiety and depression had normalized, and stayed normalized until 6 months after discharge. In conclusion, innovative technologies, such as VR, have the potential to improve psychological rehabilitation, and should therefore be considered by clinicians for the treatment of ICU-related psychological sequelae after COVID-19.
Legal Considerations of COVID-19 Patients' Disposition in Emergency Department; Report of 10 Cases
Authors: Dorsa Najari, Alireza Zali, Fares Najari, David Soroosh
Journal: Arch Acad Emerg Med (2020)
Keywords: covid-19, forensic medicine, legal considerations, legal medicine, severe acute respiratory syndrome coronavirus 2
MeSH terms: Case Reports

COVID-19 pandemic is a challenge in the current era. The spread of this viral infection began in Wuhan City in China, and Iran was also one of the countries struggling with it. Considering the nature of this virus and the current pandemic, it is essential that the healthcare system authorities issue a clear and firm law on treating people infected with COVID-19 to prevent the consequences affecting the professional life of physicians and healthcare staff. The current study aimed at evaluating the legal consequences of COVID-19 cases in emergency department (ED). This case series reported 10 patients that filed complaints against medical staff for problems that occurred on arrival, during the hospital stay or discharge in Shohada-ye-Tajrish and Shahid Modarres educational Hospitals, Tehran, Iran. Consultation with forensic medicine department was requested for all patients and the final decision for each case was reported under the title legal considerations.
Atypical Distant Metastasis of Breast Malignant Phyllodes Tumors: A Case Report and Literature Review
Authors: Tiphaine de Foucher, Hélène Roussel, Mikael Hivelin, Léa Rossi, Caroline Cornou, Anne-Sophie Bats, Myriam Deloménie, Fabrice Lécuru, Charlotte Ngô
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Malignant phyllodes tumors (MPT) are rare breast neoplasms. Preoperative diagnosis is often challenging due to the unspecific clinical, radiological, and histological characteristics of the tumor. Dissemination pathways are local with chest wall invasion, regional with lymph nodes metastasis, and distant, hematogenous, mostly to the lungs, bones, and brain. Distant metastasis (DM) can be synchronous or appear months to years after the diagnosis and initial management. The current report describes the case of a 57-year-old woman presenting with a giant/neglected MPT of the breast, with no DM at initial staging, treated by radical modified mastectomy. Motor disorders due to medullar compression by a paravertebral mass appeared at short follow-up, also treated surgically. The patient died from several DM of rapid evolution. To our knowledge, this is the only case described of MPT with metastases to soft tissue causing medullar compression. We present a literature review on unusual metastatic localizations of MPT.