OpenMed/multicare-articles huggingface dataset:
Congenital vaginal atresia: about an uncommon case
Authors: Aziz Slaoui, Intissar Benzina, Sarah Talib, Amina Etber, Najia Zeraidi, Amina Lakhdar, Aicha Kharbach, Aziz Baydada
Journal: Pan Afr Med J (2020)
Keywords: congenital vaginal atresia, hematometrocolpos, vaginoplasty
MeSH terms: Gynecologic Surgical Procedures / methods, Vagina / abnormalities, Vaginal Diseases / diagnostic imaging, Case Reports, Adolescent, Female, Humans, Magnetic Resonance Imaging, Pelvic Pain / etiology, Ultrasonography, Vagina / diagnostic imaging, Vagina / surgery, Vaginal Diseases / congenital, Vaginal Diseases / surgery

Congenital vaginal atresia is a rare congenital abnormality of the female reproductive tract due to a failure of canalisation in the urogenital sinus. We report the uncommon case of a 14-year-old girl with a primary amenorrhea associated to a cyclical pelvic pain, in whom examination objectified a vaginal cup that replaced the introitus. Ultrasound examination and magnetic resonance imaging (MRI) revealed atresia of the lower third of the vagina. The diagnosis of partial vaginal aplasia on functional uterus was retained, the patient had a perineal vaginoplasty. The evolution was satisfactory with regular cycles and improvement of pelvic pain. The decline is three years. Congenital vaginal atresia is a rare malformation classically and clinically pictured as a primary amenorrhea with chronic cyclic pelvic pain. Diagnosis is based on clinical examination and imaging. The MRI is designed to assess the importance of atresia and guide surgical management while the surgical technique aims to restore the integrity of the utero-vaginal tract and to increase the possibility of pregnancy for these patients.
Case Report: Novel CSF1R Variant in a Patient With Behavioral Variant Frontotemporal Dementia Syndrome With Prodromal Repetitive Scratching Behavior
Authors: Adit Friedberg, Eliana Marisa Ramos, Zhongan Yang, Luke W Bonham, Jennifer S Yokoyama, Peter A Ljubenkov, Kyan Younes, Daniel H Geschwind, Bruce L Miller
Journal: Front Neurol (2022)
Keywords: csf1r-related leukoencephalopathy, early symptoms, frontotemporal dementia, repetitive behaviors, scratching
MeSH terms: Case Reports

CSF1R-related leukoencephalopathy is an autosomal dominant neurodegenerative disease caused by mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R). Several studies have found that hematogenic stem cell transplantation is an effective disease modifying therapy however the literature regarding prodromal and early symptoms CSF1R-related leukoencephalopathy is limited. We describe a 63-year-old patient with 4 years of repetitive scratching and skin picking behavior followed by 10 years of progressive behavioral, cognitive, and motor decline in a pattern suggesting behavioral variant of frontotemporal dementia. Brain MRI demonstrated prominent frontal and parietal atrophy accompanied by underlying bilateral patchy white matter hyperintensities sparing the U fibers and cavum septum pellucidum. Whole-exome sequencing revealed a novel, predicted deleterious missense variant in a highly conserved amino acid in the tyrosine kinase domain of CSF1R (p.Gly872Arg). Given this evidence and the characteristic clinical and radiological findings this novel variant was classified as likely pathogenic according to the American College of Medical Genetics standard guidelines. Detailed description of the prodromal scratching and skin picking behavior and possible underlying mechanisms in this case furthers knowledge about early manifestations of CSF1R-related leukoencephalopathy with the hope that early detection and timely administration of disease modifying therapies becomes possible.
Cheilitis Glandularis of Both Lips: Successful Treatment with a Combination of an Intralesional Steroid Injection and Tacrolimus Ointment
Authors: Norberto Sugaya, Dante Migliari
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Cheilitis glandularis (CG) is an inflammatory condition of unknown cause that predominantly affects the minor salivary glands of the lips. Although a diagnosis of CG is not difficult, its treatment is a challenge. This article highlights the clinical presentation of the disease together with a case of successful management of this disease using a combination of a steroid injection followed by a topical immunosuppressor.
Skin Recurrence of Transformed Mycosis Fungoides Postumbilical Cord Blood Transplant despite Complete Donor Chimerism
Authors: Rahul Pawar, Anup Kasi Loknath Kumar, Janet Woodroof, Wei Cui, Joseph McGuirk, Sunil Abhyankar, Sid Ganguly, Anurag Singh, Tara Lin, Omar Aljitawi
Journal: Case Rep Hematol (2014)

Background. Allogeneic stem cell transplant is the treatment of choice for systemic cutaneous T-cell lymphoma (CTCL) which provides graft-versus-lymphoma effect. Herein we discuss a case of recurrence of CTCL skin lesions after cord blood transplant in a patient who continued to have 100% donor chimerism in bone marrow. Case Presentation. A 48-year-old female with history of mycosis fungoides (MF) presented with biopsy proven large cell transformation of MF. PET scan revealed multiple adenopathy in abdomen and chest suspicious for lymphoma and skin biopsy showed large cell transformation. She was treated with multiple cycles of chemotherapy. Posttherapy PET scan showed resolution of lymphadenopathy. Later she underwent ablative preparative regimen followed by single cord blood transplant. Bone marrow chimerism studies at day +60 after transplant showed 100% donor cells without presence of lymphoma. However 5 months after transplant she had recurrence of MF with the same genotype as prior skin lesion. Bone marrow chimerism study continued to show 100% donor cells. Conclusion. A differential graft-versus-lymphoma effect in our case prevented lymphoma recurrence systemically but failed to do so in skin. We hypothesize that this response may be due to presence of other factors in the bone marrow and lymph node microenvironments preventing recurrence in these sites.
Chronic Mesenteric Ischemia in a Patient With Limited Systemic Sclerosis
Authors: Ashley Barasa, Geoffrey Bader
Journal: Cureus (2023)
Keywords: atherosclerosis, chronic mesenteric ischemia, endovascular stent, gastroenterology, systemic sclerosis, vascular complications
MeSH terms: Case Reports

Chronic mesenteric ischemia typically develops secondary to the development of atherosclerosis within mesenteric vessels leading to the insufficient blood supply. While autoimmune conditions are an established independent risk factor for developing atherosclerotic plaques, the association between scleroderma and chronic mesenteric ischemia has been less studied. We present a case of a 64-year-old female with limited systemic sclerosis and atherosclerotic cardiovascular disease who presented to the Gastroenterology Clinic with progressive abdominal pain who was subsequently diagnosed with chronic mesenteric ischemia secondary to superior mesenteric artery stenosis and successfully treated with endovascular stenting.
Laparoscopic Subtotal Gastrectomy and Sigmoidectomy Combined With Natural Orifice Specimen Extraction Surgery (NOSES) for Synchronous Gastric Cancer and Sigmoid Colon Cancer: A Case Report
Authors: Qingshun Zhu, Lei Yu, Guangxu Zhu, Xuguang Jiao, Bowen Li, Jianjun Qu
Journal: Front Surg (2022)
Keywords: case report, gastric cancer, laparoscopic surgery, natural orifice specimen extraction surgery, sigmoid colon cancer
MeSH terms: Case Reports

Background:
Gastric cancer and colon cancer are rarely seen in clinic, but there are still related reports. For gastric cancer and simultaneous colon cancer, surgical resection is the main treatment. Traditional surgery requires an incision from xiphoid process to pubic symphysis. With the progress of minimally invasive technology, laparoscopic surgery is also used in the treatment of gastric cancer, but also in the abdominal incision to remove specimens and in vitro anastomosis of digestive tract. Taking specimens through the natural cavity as a new surgical method can not only reduce the abdominal incision, but also reduce the occurrence of wound-related complications. Here, we report a patient with gastric cancer and colon cancer who was treated in our hospital.
Case summary:
We report a series of patients with gastric cancer and colon cancer. upper abdominal pain was treated in our hospital for 6 months. electronic gastroscopy showed large irregular ulcers on the lesser curvature of the gastric antrum and biopsy showed poorly differentiated adenocarcinoma of the gastric antrum. The enhanced CT of abdomen and pelvis showed irregular thickening of gastric antrum wall, irregular thickening of sigmoid colon wall and no obvious enlarged lymph nodes around. Further electronic enteroscopy showed that the sigmoid colon showed cauliflower protuberance, the intestinal cavity was slightly narrow, the intestinal wall was stiff, and the biopsy pathology showed moderately differentiated adenocarcinoma of the sigmoid colon. No obvious abnormality was found in serological tumor indexes. We diagnosed gastric cancer with sigmoid colon cancer and the patient received Laparoscopic subtotal gastrectomy and sigmoidectomy combined with natural orifice specimen extraction surgery. At present, 12 months after operation, no clear tumor recurrence was found in the metastasis.
Conclusion:
We should improve the understanding of gastric cancer and sigmoid cancer and combine examination with pathology to avoid misdiagnosis as metastatic cancer. Laparoscopic subtotal gastrectomy should be performed for tumors with no serosa invasion, body mass index <30 and tumor diameter <6.5 cm. Sigmoidectomy combined with natural nostril sampling is feasible.
Myeloid sarcoma: an uncommon presentation of myeloid neoplasms; a case series of 4 rare cases reported in a tertiary care institute
Authors: Toyaja Jadhav, Puneet Baveja, Arijit Sen
Journal: Autops Case Rep (2021)
Keywords: leukemia, myelogenous, chronic, bcr-abl positive, leukemia, myeloid, acute, leukemia, promyelocytic, acute, myelodysplastic syndromes, sarcoma, myeloid
MeSH terms: Review

Myeloid sarcoma (MS) is a rare extramedullary neoplasm of myeloid cells, which can arise before, concurrently with, or following hematolymphoid malignancies. We report 04 such cases of MS, diagnosed in this institute over a period of 6 years, during various phases of their respective myeloid neoplasms/leukemias. These cases include MS occurring as a relapse of AML (Case 1), MS occurring as an initial presentation of CML (Case 2), MS occurring during ongoing chemotherapy in APML (Case 3), and MS presenting as a progression of MDS to AML (Case 4). In the absence of relevant clinical history and unemployment of appropriate immunohistochemical (IHC) studies, these cases have a high risk of being frequently misdiagnosed either as Non-Hodgkin's Lymphoma (NHL) or small round cell tumors or undifferentiated carcinomas, which may further delay their management, making an already bad prognosis worse. This case series has been designed to throw light on the varied presentation of MS and the lineage differentiation of its neoplastic cells through the application of relevant IHC markers along with their clinical correlation.
Philadelphia Translocation in MDS: A Case Report and a Brief Review of the Literature Looking at Its Prevalence, Disease Progression, and Treatment Options
Authors: Lakshmi Ramya Chelapareddy, Sandeep Sen
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Myelodysplastic syndrome (MDS) is a group of clonal disorders characterized by ineffective and dysplastic hematopoiesis in the bone marrow with variable risk of progression to leukemia. MDS is characterized by specific karyotypic and molecular abnormalities. The t(9 : 22) Philadelphia translocation is not a common abnormality found in MDS, and it is not included in the prognostic indices for germline mutations. There are no definitive treatment guidelines for these patients either. Here, we reviewed previously reported cases of MDS with the Philadelphia translocation with a goal to determine their prognosis and treatment options, specifically the tyrosine kinase inhibitors (TKIs).
Right Coronary Artery STEMI following Blunt Thoracic Trauma
Authors: Saad Sikanderkhel, Jon-Austin Ash, Kimberly O'Dell, Jacob Mok, Harish Manyam, John Golding
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

We present a case report of an otherwise healthy 37-year-old male without pertinent cardiac history or risk factors, who presented with cardiac trauma after a motor vehicle collision (MVC). Initial workup including electrocardiogram (ECG), transthoracic echocardiogram (TTE), and uptrending serial troponins warranted coronary angiography, during which occlusive thrombi were discovered in the proximal right coronary artery (pRCA), the right posterolateral vessel (rPL), and the right posterior descending artery (PDA). Subsequently, the patient underwent percutaneous coronary intervention of the RCA and PDA with aspiration thrombectomy. He was then initiated on dual antiplatelet therapy (DAPT) and recovered appropriately. This case is presented with the goal of enlightening the academic community of a rare complication while presenting a judicious approach to management in an attempt to decrease the occurrence of "near misses" in the future.
Hemorrhagic Sudden Onset of Spinal Epidural Angiolipoma
Authors: Kiyotaka Horiuchi, Tsuyoshi Yamada, Kenichiro Sakai, Atsushi Okawa, Yoshiyasu Arai
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Angiolipomas are relatively rare benign tumors. Spinal angiolipomas that generally induce slow progressive cord compression are most commonly found in the thoracic region. A 49-year-old female with obesity presented with a 1-week history of progressively worsening back pain, paresthesia of lower limbs, and gait disturbance. When thoracic magnetic resonance imaging (MRI) revealed a dorsal epidural mass at the Th5-Th8 level, the patient underwent a laminectomy for gross total excision of the lesion. Both mature fatty tissue and abnormal proliferating vascular elements with thin or expanded walls were observed in the resected tumor. Nonfiltrating spinal angiolipoma was diagnosed and confirmed by pathology. After the operation, sensory loss, numbness, and gait disturbance were improved following the disappearing severe back pain. Following examinations indicated the absence of recurrence within 1 year. The angiolipomas of the spine are rare causes of spinal cord compression that generally induce slow progressive cord compression, but sudden onset or rapid worsening of neurological deterioration is observed in hemorrhagic spinal angiolipoma.
Collagen-specific T-cell repertoire in blood and synovial fluid varies with disease activity in early rheumatoid arthritis
Authors: Francesco Ria, Romina Penitente, Maria De Santis, Chiara Nicolò, Gabriele Di Sante, Massimiliano Orsini, Dario Arzani, Andrea Fattorossi, Alessandra Battaglia, Gian Franco Ferraccioli
Journal: Arthritis Res Ther (2008)
MeSH terms: Arthritis, Rheumatoid / blood, Collagen Type II / blood, Collagen Type II / immunology, Synovial Fluid / metabolism, Case Reports, Comparative Study, Adult, Aged, Amino Acid Motifs, Amino Acid Sequence, Arthritis, Rheumatoid / metabolism, Cell Proliferation, Cohort Studies, Collagen Type II / metabolism, Epitopes, T-Lymphocyte / immunology, Epitopes, T-Lymphocyte / metabolism, Female, Gene Rearrangement, alpha-Chain T-Cell Antigen Receptor, Humans, Middle Aged, Molecular Sequence Data, T-Lymphocytes / cytology, T-Lymphocytes / immunology, T-Lymphocytes / metabolism, Time Factors, Collagen Type II, Epitopes, T-Lymphocyte

Introduction:
Type II collagen is a DR4/DR1 restricted target of self-reactive T cells that sustain rheumatoid arthritis. The aim of the present study was to analyze the T-cell receptor repertoire at the onset of and at different phases in rheumatoid arthritis.
Methods:
We used the CDR3 BV-BJ spectratyping to study the response to human collagen peptide 261-273 in 12 patients with DR4+ rheumatoid arthritis (six at the onset of disease and six during the course of disease) and in five healthy DR4+ relatives.
Results:
The collagen-specific T-cell repertoire is quite restricted at the onset of disease, involving approximately 10 rearrangements. Within the studied collagen-specific rearrangements, nearly 75% is shared among patients. Although the size of the repertoire used by control individuals is comparable to that of patients, it is characterized by different T-cell receptors. Part of the antigen-specific T-cell repertoire is spontaneously enriched in synovial fluid. The specific T-cell repertoire in the periphery was modulated by therapy and decreased with the remission of the disease. Failure of immunoscopy to detect this repertoire was not due to suppression of collagen-driven proliferation in vitro by CD4+ CD25+ T cells. Clinical relapse of the disease was associated with the appearance of the original collagen-specific T cells.
Conclusions:
The collagen-specific T-cell receptor repertoire in peripheral blood and synovial fluid is restricted to a limited number of rearrangements in rheumatoid arthritis. The majority of the repertoire is shared between patients with early rheumatoid arthritis and it is modulated by therapy.
Branch Retinal Artery Occlusion after Percutaneous Coronary Intervention
Authors: Tommaso La Macchia, Remo Albiero, Tommaso Invernizzi, Giorgia Ceravolo, Ida Ceravolo
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

We report a case of branch retinal artery occlusion (BRAO) that occurred after percutaneous coronary intervention (PCI). A 59-year-old man with no other previous diseases presented visual acuity deterioration in the left eye 24 hours after PCI. Fundus examination revealed ischemia at the temporal branch of the retinal artery associated with inner layer edema. Prompt treatment was performed with ocular digital massage and paracentesis of the anterior chamber. However, at discharge, the patient had a persistent visual loss with a central scotoma that persisted at 35-day follow-up without improvement of the visual acuity. The patient did not suffer from any other systemic complications. Retinal infarction should be considered a potential complication of PCI. Patients and health care providers should be aware of any visual signs. Permanent visual disability can be prevented by immediate diagnosis and prompt intervention.
Isolated hypothalamic-pituitary langerhans' cell histiocytosis in female adult: A case report
Authors: Huiwen Tan, Kai Yu, Yerong Yu, Zhengmei An, Jianwei Li
Journal: Medicine (Baltimore) (2019)
MeSH terms: Histiocytosis, Langerhans-Cell / diagnosis, Histiocytosis, Langerhans-Cell / therapy, Pituitary Diseases / diagnosis, Pituitary Diseases / therapy, Case Reports, Combined Modality Therapy, Diagnosis, Differential, Female, Histiocytosis, Langerhans-Cell / metabolism, Histiocytosis, Langerhans-Cell / pathology, Humans, Middle Aged, Pituitary Diseases / metabolism, Pituitary Diseases / pathology, Pituitary Gland / diagnostic imaging, Pituitary Gland / metabolism, Pituitary Gland / pathology

Rationale:
Langerhans cell histiocytosis (LCH) is characterized by clonal proliferation of immature dendritic cells, mainly affects children. LCH in adult sellar region is extremely rare. In literature, optimal treatments remain unclear and only a few cases of LCH were treated using surgery. Here, we present a rare case of isolated hypothalamic-pituitary LHC in female adult. We focused on elucidating the clinical manifestations and immunohistochemical features of LCH, and exploring the proper treatment in adults.
Patient concerns:
A 50-year-old woman was admitted to our hospital, presenting with polydipsia and polyuria for over 3 months.
Diagnoses:
Radiological studies revealed lesions (0.5 × 0.9 × 0.4 cm) on posterior pituitary and enlarged pituitary stalk, which was moderately enhanced on contrast magnetic resonance imaging (MRI) of sellar region. In biopsy, pathological examination of Langerhans cells were observed with positive S-100 protein and Ki-67 antigen markers, findings were sufficient to establish a diagnosis of central nervous system (CNS) LCH.
Interventions:
The patient with LCH restricted in the sellar region received both surgery and chemotherapy. Gamma knife radiosurgery was performed after diagnosed as central diabetes insipidus (CDI) induced by pituitary lesion. And tumorectomy was performed 5 years later. However, in the latest MRI in 2017, the nodular shadow became larger (about 1.4 cm), chemotherapy and further systemic therapy were given.
Outcomes:
At 12-month follow-up, no local reoccurrence was noticed.
Lessons:
For LCH, though difficult to be diagnosed and none defined standard therapeutic approach to adults, surgery should be considered if there are neurological symptoms or histological diagnosis. The present study showed that some manifestations can be meaningful when central nervous system (CNS) is involved. For complex diseases in the sellar region, multi-disciplinary team (MDT) model of diagnosis and treatment should be helpful for better clinical efficacy.
Occult Orbital Injury with Dagger Fragment with Resulting Pneumocephalus
Authors: Lucía Jáñez-García, Enrique Mencía-Gutiérrez, Esperanza Gutiérrez-Díaz, Luis F Moreno-García-Rubio, Laura Zarratea-Herreros, Álvaro Bengoa-González, Silvia Pérez-Trigo
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

Penetrating injuries of the cranium are relatively uncommon, only 0.4% of all head injuries. In patients with disturbed conscious level, an extensive examination should be performed in the emergency unit to rule out transorbital penetrating brain injury. A 25-year-old male was attacked with a dagger. He presented with ethylic intoxication and the physical examination demonstrated a small skin injury on the lateral canthus of the left eye with a large periocular hematoma which prevented eyelid opening. Cranial CT scan showed a metallic intraorbital foreign body consisting of a fragment of a dagger which perforated the eyeball, and penetrated through the superomedial wall of the orbit into the anterior cranial fossa. Reconstruction of the eyeball was performed and the fragment was removed. Orbital injuries with a knife in situ are very unusual. Early identification and removal of retained foreign bodies are essential.