OpenMed/multicare-articles huggingface dataset:
Von Willebrand's disease: case report and review of literature
Authors: Hanae Echahdi, Brahim El Hasbaoui, Mohamed El Khorassani, Aomar Agadr, Mohamed Khattab
Journal: Pan Afr Med J (2017)
Keywords: von willebrand disease, von willebrand factor, factor viii, hemorrhage, platelets
MeSH terms: Factor VIII / administration & dosage, Hemorrhage / etiology, von Willebrand Diseases / diagnosis, Case Reports, Review, Child, Preschool, Deamino Arginine Vasopressin / administration & dosage, Erythrocyte Transfusion / methods, Humans, Male, Partial Thromboplastin Time, Plasma, Severity of Illness Index, von Willebrand Diseases / therapy, von Willebrand Factor, von Willebrand Factor, Factor VIII, Deamino Arginine Vasopressin

Von Willebrand Disease (VWD) is the most common human inherited bleeding disorder due to a defect of Von Willebrand Factor (VWF), which a glycoprotein crucial for platelet adhesion to the subendothelium after vascular injury. VWD include quantitative defects of VWF, either partial (type 1 with VWF levels < 50 IU/dL) or virtually total (type 3 with undetectable VWF levels) and also qualitative defects of VWF (type 2 variants with discrepant antigenic and functional VWF levels). The most bleeding forms of VWD usually do not concern type 1 patients with the mildest VWF defects (VWF levels between 30 and 50IU/dL). Von willebrand factor is a complex multimeric protein with two functions: it forms a bridge between the platelets and areas of vascular damage and it binds to and stabilizes factor VIII, which is necessary for the clotting cascade. By taking a clinical history of bleeding (mucocutaneous bleeding symptoms suggestive of a primary haemostatic disorder, a quantitative or qualitative abnormality of VWF is possible) it is important to think about VWD and to make the appropriate diagnosis. If the VWD is suspected diagnostic tests should include an activated partial thromboplastin time, bleeding time, factor VIII: C Ristocetin cofactor and vWF antigen. Additional testing of ristocetin induced plattlet adhesion (RIPA) the multimeric structure and collagen binding test and genanalysis allow diagnosing the different types of von. Willebrand Disease. The treatment of choice in mild forms is the synthetic agent desmopressin. In patients with severe type 1, type 2B, 2N and type 3 or in people who do not response to desmopressin, the appropriate treatment is a factor VIII concentrate that is rich of VWF. We report a case of infant in 27-month-old boy who had been referred due to haemorrhagic shock. His birth histories, his familie's social history and developmental milestones were unremarkable. He was born at full term with no antenatal or perinatal complications. Prior to the symptoms, the child was on a normal diet and was thriving appropriately. The child presented one days before his admission trauma to the inner face of the lower lip that caused an external acute bleeding loss. The laboratory data showed unfortunately, the most severe form of Von Willebrand's Disease; Type 3. The management was based on erythrocyte and fresh-frozen plasma (FFP) transfusions with administration of factor VII with good evolution.
Case Report: Jejunoileal Atresia With Persistent Poor Bowel Function Can Occur After Surgical Correction for Hirschsprung Disease
Authors: Bassam N AlBassam, Ahmad A Al-Shammari, Saleh A AlQahtani, Elham Hassan
Journal: Front Pediatr (2022)
Keywords: hirschsprung disease, saudi arabia, ileal atresia, immunodeficiency, pediatric
MeSH terms: Case Reports

Jejunoileal atresia (JIA) is one of the common etiologies of intestinal obtrusion in neonates. However, cases of concomitant ileal atresia and Hirschsprung disease (HD) rarely occur. We report the case of a male infant who had JIA concomitantly with HD that was re-anastomosed. The patient underwent an exploratory laparotomy to resect the dilated terminal ileum. Subsequently, owing to a significantly dilated proximal bowel, he underwent a second exploratory laparotomy. However, he continued to have feeding intolerance postoperatively. He had colonic aganglionosis and was diagnosed with HD. A third laparotomy was then performed. Additionally, he had recurrent episodes of gram-negative bacteremia, especially candida parapsilosis fungemia, despite receiving antibiotics and antifungal, and there were no identifiable underlying genetic or immunological causes. Finally, the patient had recurrent episodes of hypoglycemia, central hypothyroidism, and multiple organ failure and died at the age of 7 months. The concomitant ileal atresia and HD was thought to be due to a common intrauterine vascular accident, together with loss of bowel, thereby acting as a barrier for the caudal migration of neuromeric cells and leading to colonic aganglionosis. In this case, ileal atresia was associated with colonic aganglionosis, central hypothyroidism, and persistent bacteremia, which is a unique finding. In cases of JIA, persistent poor bowel function after surgical correction of concomitant HD should be considered.
Low-Grade Appendiceal Mucinous Neoplasm Presenting as an Adnexal Mass
Authors: P Panagopoulos, T Tsokaki, E Misiakos, V Domi, C Christodoulaki, D Sioutis, N Papantoniou
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Appendiceal tumors are rare, late diagnosed neoplasms that may not be differentiated from adnexal masses even by advanced imaging methods and other diagnostic procedures. They may be asymptomatic and remain undiagnosed until surgery. We report a case of an 80-year-old postmenopausal woman presenting with a pelvic mass and a history of weight loss. The patient underwent laparotomy which revealed an appendiceal mucocele, for which she received a full oncological procedure. The histology report showed a low-grade appendiceal mucinous neoplasm, and the patient underwent six cycles of chemotherapy. Appendiceal tumors should be kept in mind in patients with adnexal mass.
Case Report: Coexistence of Anti-Glomerular Basement Membrane Disease, Membranous Nephropathy, and IgA Nephropathy in a Female PatientWith Preserved Renal Function
Authors: Wei Qu, Nan Liu, Tianhua Xu, Binyao Tian, Meng Wang, Yanqiu Li, Jianfei Ma, Li Yao
Journal: Front Pharmacol (2022)
Keywords: iga nephropathy, anti-glomerular basement membrane disease, case report, immunotherapy, membranous nephropathy
MeSH terms: Case Reports

The coexistence of anti-glomerular basement membrane (GBM) disease, idiopathic membranous nephropathy (IMN), and IgA nephropathy in one patient is a very rare case, which has not yet been reported. Whether the three diseases are correlated and the underlying mechanism remain unknown. Herein, we report a 48-year-old female patient that was admitted because of proteinuria and abnormal renal function, which was diagnosed as anti-GBM disease, idiopathic membranous nephropathy, and IgA nephropathy by renal biopsy. The patient received treatment including high-dose methylprednisolone pulse therapy, plasma exchange, and intravenous infusion of both cyclophosphamide (CTX) and rituximab. In the follow-up, the titer of the anti-GBM antibody gradually decreased, renal function was restored, and urinary protein was reduced, without significant adverse effects.
Cardiovascular magnetic resonance findings in Danon disease: a case series of a family
Authors: Xiaolong Liu, Ning Zhai, Xiaoqiang Wang, Jiehuan Wang, Mengchun Jiang, Zhanguo Sun, Yueqin Chen, Jingjing Xu, Yinghua Cui, Lu Li
Journal: Front Cardiovasc Med (2023)
Keywords: danon disease, lamp2, cardiovascular magnetic resonance, feature tracking, glycogen storage disease, late gadolinium enhancement

Background:
Cardiac involvement constitutes the primary cause of mortality in patients with Danon disease (DD). This study aimed to explore the cardiac magnetic resonance (CMR) features and progressions of DD cardiomyopathies in a family with long-term follow-up.
Methods:
Seven patients (five females and two males), belonging to the same family and afflicted with DD, were enrolled in this study between 2017 and 2022. The cardiac structure, function, strain, tissue characteristics on CMR and their evolutions during follow-up were analyzed.
Results:
Three young female patients (3/7, 42.86%) exhibited normal cardiac morphology. Four patients (4/7, 57.14%) displayed left ventricle hypertrophy (LVH), and mostly with septal thickening (3/4, 75%). A single male case (1/7, 14.3%) showed decreased LV ejection fraction (LVEF). Nonetheless, the global LV strain of the four adult patients decreased in different degree. The global strain of adolescent male patients was decreased compared to the age-appropriate female patients. Five patients (5/7, 71.43%) exhibited late gadolinium enhancement (LGE), with proportion ranging from 31.6% to 59.7% (median value 42.7%). The most common LGE location was the LV free wall (5/5, 100%), followed by right ventricle insertion points (4/5, 80%) and intraventricular septum (2/5, 40%). Segmental radial strain (rs = -0.586), circumferential strain (r = 0.589), and longitudinal strain (r = 0.514) were all moderately correlated with the LGE proportions of corresponding segments (P < 0.001). T2 hyperintense and perfusion defect foci were identified, overlapping with the LGE areas. During follow-up, both the young male patients exhibited notable deterioration of their cardiac symptoms and CMR. The LVEF and strain decreased, and the extent of LGE increased year by year. One patient underwent T1 mapping examination. The native T1 value was sensitively elevated even in regions without LGE.
Conclusions:
Left ventricular hypertrophy, LGE with sparing or relatively less involved IVS, and LV dysfunction are prominent CMR features of Danon cardiomyopathy. Strain and T1 mapping may have advantages in detecting early-stage dysfunction and myocardial abnormalities in DD patients, respectively. Multi-parametric CMR can serve as an optimal instrument for detecting DD cardiomyopathies.
Case Report: Durable partial response to icotinib plus crizotinib in a lung adenocarcinoma patient with double uncommon EGFR G719D/L861Q mutations and an acquired novel CUX1- MET fusion
Authors: Lanzi Ou, Yicong Tang, Yanming Deng, Lijie Guo, Qingqing He, Tingting He, Weineng Feng
Journal: Front Oncol (2022)
Keywords: cux1-met fusion, egfr mutations, icotinib plus crizotinib, lung adenocarcinoma, partial response
MeSH terms: Case Reports

Non-small cell lung cancer (NSCLC) patients harboring MET exon 14 skipping or high MET amplification display a high rate of response to MET inhibitors. However, MET fusions in NSCLC have rarely been revealed. In this report, a 63-year-old woman with lung adenocarcinoma (LADC), harboring EGFR exon 18 G719D and exon 21 L861Q mutations, received first-generation, EGFR-tyrosine kinase inhibitor (TKI) icotinib therapy. Next generation sequencing (NGS) results only displayed an EGFR T790M point mutation following icotinib resistance. Thus, the patient was treated with osimertinib and achieved a stable disease (SD). However, disease progressed after 15 months and a novel MET fusion (CUX1 exon14-MET exon15) in addition to EGFR G719D/L861Q mutations were simultaneously detected in a tissue biopsy sample. After more than nine months, the patient subsequently achieved a PR with the combination of icotinib and crizotinib. To our knowledge, this is the first case of LADC patient displaying the presence of EGFR double uncommon mutations and an acquired novel CUX1-MET fusion that has benefited from icotinib plus crizotinib treatment. Following nine months of PR with icotinib plus crizotinib, the patient, until the time of publication, is exhibiting stable disease. The results suggest that the CUX1-MET fusion may be sensitive to crizotinib, although previous reports indicated that some MET fusion cases did not respond to crizotinib. Given this disparity, distinguishing MET fusion partners when crizotinib is used in LADC treatment is also very important.
Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening
Authors: Giovanni Di Zenzo, Giovanna Floriddia, Sabrina Rossi, Feliciana Mariotti, Alessia Primerano, Angelo Giuseppe Condorelli, Biagio Didona, Daniele Castiglia
Journal: Front Immunol (2022)
Keywords: autoimmunity, collagen vii, disease severity and modifiers, genodermatosis, pemphigoids
MeSH terms: Autoimmune Diseases / pathology, Epidermolysis Bullosa Dystrophica / complications, Epidermolysis Bullosa Dystrophica / diagnosis, Epidermolysis Bullosa Dystrophica / genetics, Pemphigoid, Bullous / diagnosis, Pemphigoid, Bullous / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Aged, Blister / pathology, Collagen / genetics, Collagen Type VII / genetics, Humans, Male, Skin, COL7A1 protein, human, Collagen Type VII, Collagen

Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis bullosa (EB), has been described, but its effects on disease course remain unclear. We report a 69-year-old individual with congenital skin fragility and acral trauma-induced blistering that had suddenly worsened with the onset of severe itch and diffuse spontaneous inflammatory blisters. Next-generation sequencing identified compound heterozygous null and missense COL7A1 mutations, allowing the diagnosis of recessive dystrophic EB. However, the patient's clinical history prompted us to investigate whether he might have developed a pathological autoimmune response against basement membrane components. Tissue-bound and circulating IgG antibodies to the major bullous pemphigoid (BP) antigen, BP180, were detected in the patient's skin and serum, respectively, consistent with a diagnosis of BP. Corticosteroid therapy was initiated resulting in remission of BP manifestations. EB patients presenting rapid disease worsening should be investigated for the development of a concomitant autoimmune blistering disease.
A Case of Primary Combined Squamous Cell Carcinoma with Neuroendocrine (Atypical Carcinoid) Tumor in the Floor of the Mouth
Authors: Kenji Yamagata, Kazuhiro Terada, Fumihiko Uchida, Naomi Kanno, Shogo Hasegawa, Toru Yanagawa, Hiroki Bukawa
Journal: Case Rep Dent (2016)
MeSH terms: Case Reports

The combined squamous cell carcinoma (SCC) with neuroendocrine (atypical carcinoid (AC)) tumor is extremely rare in the head and neck. We present here the first case of SCC with AC arising in the floor of the mouth of 65-year-old man. The tumor is comprised of two components of SCC and AC in the biopsy specimen. Neuroendocrine tumor component was classified as AC from the punctate necrosis and 2-10>/10 HPF. Immunohistochemical staining was HMW-CK/34B (+) and P63 (+) in SCC and synaptophysin (+) and CD56 (+) in AC. The pathological diagnosis of SCC with AC was made from both the morphological and immunological exam. Concurrent chemoradiotherapy was performed with radiotherapy 70.2 Gy and chemotherapy of CDDP and VP-16. Although the treatment effect was complete response both of primary tumor and of neck metastases, the recurrence of the primary tumor was after 6 months. Bilateral modified radical neck dissection and tumor resection of the floor of the mouth with reconstructive surgery of anterior lateral thigh free flap were performed. Although the primary and neck tumor did not recur, the multiple lung metastases and mediastinum lymph node metastases occurred at 6 months after surgery.
Case Report: A Rare Case of a Ventricular Perivascular Epithelioid Cell Tumor With Histologic Characteristics That Resembled a Primary Cardiac Rhabdomyoma
Authors: Jorge Cossío-Aranda, Alberto Aranda-Frausto, Joaquin Berarducci, Nilda Espinola-Zavaleta, Laila González-Melchor, Clara Vázquez-Antona, Gabriela Meléndez-Ramirez, Javier Ivan Armenta-Moreno, Candace Keirns
Journal: Front Cardiovasc Med (2021)
Keywords: pecoma, arrhythmia, cardiac tumor, cardiooncology, perivascular epithelioid cell neoplasm, rhabdomyoma of heart
MeSH terms: Case Reports

We present the case of a young male patient with an initial diagnosis of a rhabdomyoma that was surgically treated at a different hospital when he was 17. After a 2-year disease-free period, the patient presented another intra-cardiac mass. He refused surgical treatment and died 5 years later. Post-mortem immunochemistry studies of both tumors led to the diagnosis of a primary malignant cardiac PEComa with histopathologic characteristics that resembled a rhabdomyoma with abundant "spider cells."
Giant Parathyroid Adenoma: A Case Report
Authors: Siddharth Shah, Priscilla Fujikawa, Kenneth Brand, Viraj Munshi, Kashyap Patel
Journal: Cureus (2023)
Keywords: giant parathyroid adenoma, hungry bone syndrome, parathyroid and lipid disorders, parathyroid function test, parathyroid gland adenoma, parathyroid hormone (pth), postoperative parathyroid hormone (pth)
MeSH terms: Case Reports

Parathyroid adenomas rarely weigh more than 4 grams. Our patient had a 5.3-gram adenoma causing bilateral knee pain limiting mobility, constipation, low back pain, and frontal headache. Presenting with calcium of greater than 17 mg/dl, the patient was treated with two rounds of hemodialysis, calcitonin, Zoledronate, and aggressive IV hydration to decrease calcium levels before parathyroidectomy. The patient then went on to develop the hungry bone syndrome, which was treated with calcium carbonate and calcitriol. This rare giant parathyroid adenoma presents a unique opportunity to learn about the pathogenesis and treatment of longstanding hyperparathyroidism causing hypercalcemia-associated symptoms and hungry bone syndrome after parathyroidectomy.
Use of Supraclavicular Flap by End to Side Technique in Pharyngeal SCC: A Case Report and Review of Literature
Authors: Aslan Ahmadi, Ayda Sanaei, Delaram Jan, Maryam Zolfaghary
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Objectives:
In recent years, conservation laryngeal surgeries, including partial pharyngectomy, have been introduced as an alternative procedure for selected cases of hypopharyngeal squamous cell carcinoma (HSCC). Reconstruction of these defects presents a considerable challenge for the surgeon after partial pharyngectomy due to its circumferential nature. In this case report, we represent the innovative "End to side" technique to reconstruct hypopharyngeal defect using the rolled supraclavicular flap after laryngeal-preserving partial pharyngectomy.
Methods and results:
A 70-year-old female presented with a history of progressive dysphagia and odynophagia. The evaluations revealed a T3N0M0 SCC of pyriform sinus. The mass was successfully resected through partial pharyngectomy, and the hypopharyngeal defect reconstruction was achieved using the rolled supraclavicular flap via the "End to side" technique. The patient was discharged after decannulation on day 10. The 3-week barium swallow was performed with no evidence of anastomotic leakage, and the oral feeding was started after NG tube removal. At week 5, complete movement of the true vocal cord on the one side and good phonation and deglutition was observed. There was no evidence of recurrence after 1 year.
Conclusions:
Laryngeal-preserving partial pharyngectomy and hypopharyngeal reconstruction with the rolled supraclavicular flap via the "End to side" technique could lead to good oncological and functional outcomes in selected cases of pyriform sinus.
Membranoproliferative glomerulonephritis associated with Rosai-Dorfman disease
Authors: Keisuke Sugimoto, Satoshi Ueda, Mitsuru Okada, Tsukasa Takemura
Journal: Clin Nephrol Case Stud (2017)
Keywords: langerhans-cell histiocytosis, rosai-dorfman disease, children, cytokines, membranoproliferative glomerulonephritis, mizoribine
MeSH terms: Case Reports

Rosai-Dorfman disease is also known as sinus histiocytosis with massive lymphadenopathy. Extranodal Rosai-Dorfman disease has been reported in ~ 43% of cases; the most frequent extranodal sites - skin, soft tissue, bone, respiratory tract, and eye - are usually involved in association with lymphadenopathy. Lack of lymph node involvement is rare, especially when patients manifest renal disease. Here, we describe a patient who developed membranoproliferative glomerulonephritis when lymphadenopathy was absent. During follow-up for sinus histiocytosis, a 7-year-old Japanese boy developed proteinuria and hematuria. No renal abnormality was present in ultrasound imaging. Histologic examination of a renal biopsy specimen disclosed moderate mesangial proliferation, focal thickening of glomerular capillary walls, and mesangial interposition. Mononuclear cells infiltrated the interstitium. Immunofluorescence showed intense IgG, C3, and C4 reactivity in portions of the mesangium and glomerular capillary walls. Electron microscopy depicted nodular deposits in mesangial, endocapillary, and subepithelial areas. Immunohistochemistry for S-100 protein, CD68, and lysozyme was positive within the interstitium. CD1a staining was absent. These findings were diagnostic for membranoproliferative glomerulonephritis. Multidrug therapy, including methylprednisolone and mizoribine, improved urinary findings and induced complete remission of both diseases. To the best of our knowledge, this is the first report of Rosai-Dorfman disease complicated by renal disease in the absence of concurrent nodal involvement. Clinicians should be alert to this diagnostic possibility.
Acrokeratosis Paraneoplastica Associated with Cervical Squamous Cell Carcinoma
Authors: Bryan Squires, Steven D Daveluy, Michael C Joiner, Newton Hurst, Michael Bishop, Steven R Miller
Journal: Case Rep Dermatol Med (2016)
MeSH terms: Case Reports

Background. Acrokeratosis paraneoplastica, or Bazex syndrome, is a paraneoplastic syndrome characterized by cutaneous psoriasiform lesions with associated acral erythema and scale, as well as nail changes, including onycholysis and ungual dystrophy. Its most advanced, severe form involves the trunk, elbows, and knees. It is typically associated with upper aerodigestive tract malignancies in males. Rare cases associated with gynecological cancers have been reported, including uterine adenocarcinoma, as well as ovarian and vulvar squamous cell carcinomas. Cutaneous manifestations often precede cancer diagnosis. In most reported cases, skin changes resolve when the underlying malignancy is adequately treated. Main Observations. We present the case of a 56-year-old female diagnosed with acrokeratosis paraneoplastica following the discovery of FIGO stage IIB cervical squamous cell carcinoma (SCC). Scaling, hyperpigmentation, xerosis, and fissuring were noted on the patient's hands, feet, legs, arms, and lower back. Pitting was noted on her fingernails. Her cervical cancer was successfully treated with chemoradiotherapy, after which her cutaneous lesions persisted for two months before resolving. Conclusions. The presentation of acrokeratosis paraneoplastica in this context is atypical. Reports of associations with gynecological cancers, as in our patient's case, are exceedingly rare.