OpenMed/multicare-articles huggingface dataset:
Allogeneic haematopoietic stem cell transplantation with decitabine-containing preconditioning regimen in TP53-mutant myelodysplastic syndromes: A case study
Authors: Yuxin Wang, Yao Sun, Jing Xie, Jiangwei Hu, Na Liu, Jianlin Chen, Botao Li, Sanchun Lan, Jingwen Niu, Lei Wang, Zhuoqing Qiao, Yu Zhang, Jing Ren, Bin Zhang, Liren Qian, Yehui Tan, Liping Dou, Yuhang Li, Liangding Hu
Journal: Front Oncol (2022)
Keywords: tp53 mutation, allogeneic haematopoietic stem cell transplantation, conditioning regimen, decitabine, myelodysplastic syndrome
MeSH terms: Case Reports

Myelodysplastic syndrome (MDS) with TP53 mutations has a poor prognosis after transplantation, and novel therapeutic means are urgently needed. Decitabine (Dec) monotherapy has demonstrated improved overall response rates in MDS and acute myeloid leukaemia, although these responses were not durable. This study aimed to preliminary evaluate the efficacy of a Dec-containing allogeneic haematopoietic stem cell transplantation (allo-HSCT) preconditioning regimen in TP53-mutant MDS. Nine patients with TP53-mutant myelodysplastic syndromes received the decitabine-containing preconditioning regimen and subsequent myeloablative allo-HCT between April 2013 and September 2021 in different centres. At a median follow-up of 42 months (range, 5 to 61 months), the overall survival (OS) was 89% (8/9), progression-free survival (PFS) was 89% (8/9), and relapse incidence was 11.1%. The incidence of severe acute (grade III-IV) graft-versus-host disease (GVHD) was 22.2% (2/9) and that of chronic moderate-to-severe GVHD was 11.1% (1/9). The 1-year GVHD-free/relapse-free survival (GRFS) was 56% (5/9). In conclusion, we found real-world clinical data that supports the use of a Dec-containing preconditioning regimen before allo-HSCT for possible improved outcomes in TP53-mutant MDS patients; there is therefore an urgent call for an in-depth exploration of the involved mechanism to confirm these preliminary findings.
Subacute combined degeneration of the spinal cord with concomitant autoimmune disease: report of 2 cases
Authors: Tian-Fang Jiang, Jia Zheng, Xu Chen
Journal: Braz J Med Biol Res (2021)
MeSH terms: Autoimmune Diseases / complications, Autoimmune Diseases / diagnosis, Subacute Combined Degeneration / complications, Subacute Combined Degeneration / diagnosis, Subacute Combined Degeneration / pathology, Case Reports, Humans, Magnetic Resonance Imaging, Spinal Cord, Vitamin B 12, Vitamin B 12

The etiology of subacute combined degeneration (SCD) of the spinal cord is closely associated with vitamin B12 (VitB12) deficiency. The clinical manifestations of SCD are complex and vary substantially. Due to some SCD patients with atypical manifestations and concomitant autoimmune disorders, the probability of misdiagnosis and missed diagnosis is still relatively high in the early stage. We report the cases of two patients who were missed or misdiagnosed at another hospital because of the normal initial VitB12 level and partial overlap of clinical manifestations, finally diagnosed as SCD with atypical manifestations and concomitant autoimmune disorders, pharyngeal-cervical-brachial Guillain-Barre syndrome in Case 1 and SCD with autoimmune thyroiditis in Case 2. After undergoing corresponding treatment, death was reported in Case 1 and improvement in Case 2. Analysis of the clinical manifestations and investigation of the underlying pathogenesis in such patients could help improve the rate of early diagnosis and allow timely treatment of SCD, thereby preventing disease progression and poor clinical outcomes.
Invasive mucinous adenocarcinoma associated with adjacent sessile serrated lesion of the appendix vermiform: a case report
Authors: Osamu Kinoshita, Yasutoshi Murayama, Yoshiaki Kuriu, Masayoshi Nakanishi, Chohei Sakakura, Eigo Otsuji
Journal: Case Rep Pathol (2014)

Although the definition of sessile serrated lesion (SSL) of colon is controversial and the risk of progression to malignancy is also under investigation at present, SSL is generally described as a polyp characterized by a serrated architecture. It is estimated to represent a feature of a new cancerization pathway, coined "serrated neoplasia pathway," particularly in right-sided colon adenocarcinomas. On the other hand, in appendix, the role of this pathway remains uncertain, probably because very few cases of appendiceal adenocarcinoma associated with SSL were reported, and furthermore, immunohistochemical examination was rarely carried out. We herein report an interesting case of invasive appendiceal mucinous adenocarcinoma exhibiting SSL, which was pathologically estimated as a potential precursor lesion, and performed representative immunohistochemistry for both the mucinous adenocarcinoma and SSL in the same specimen. To further elucidate the progression of the appendiceal carcinoma from SSL, both an adequate sectioning of the lesion and systematic immunohistochemical examination of a large number of appendiceal carcinoma cases containing adjacent SSL would be required.
Extra-adrenal myelolipoma: a rare entity in paediatric age group
Authors: Chandrashekhar A Sohoni
Journal: APSP J Case Rep (2013)
Keywords: child, extra-adrenal myelolipoma, pain in abdomen
MeSH terms: Case Reports

Extra-adrenal myelolipoma is a well-described entity in adult population, however it is extremely rare in paediatric age group. An unusual case of intra-peritoneal extra-adrenal myelolipoma in an 8-year-old child is presented here. The lesion was incidentally detected while evaluating the patient for spasmodic abdominal pain. Ultrasonography followed by CT scan and MRI imaging suggested the diagnosis which was confirmed by histopathology. A non-surgical approach was adopted and there was no progression of the lesion on follow-up imaging.
Severe hypercalcemia and acute renal failure: an unusual presentation of sarcoidosis
Authors: Rudruidee Karnchanasorn, Molly Sarikonda, Saleh Aldasouqi, Ved V Gossain
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Although hypercalcemia is a known metabolic complication of sarcoidosis, it is rarely a presenting manifestation. Long-standing hypercalcemia and hypercalciuria can cause nephrocalcinosis and chronic renal failure. Acute renal failure, although described, is also a rare presentation of patients with sarcoidosis. We describe two patients with sarcoidosis, who presented with severe hypercalcemia and worsening renal function. Parathyroid hormone levels were appropriately suppressed. This led to an extensive search for the cause of hypercalcemia. Finally, after a lymph node biopsy in both cases, a diagnosis of sarcoidosis was established, hypercalcemia resolved, and renal function improved in both cases after administration of prednisone.
Fatal H1N1-Related Acute Necrotizing Encephalopathy in an Adult
Authors: Yu-Jin Lee, D Scott Smith, Vivek A Rao, Robert D Siegel, Jon Kosek, Carol A Glaser, Alexander C Flint
Journal: Case Rep Crit Care (2011)
MeSH terms: Case Reports

Acute necrotizing encephalopathy (ANE) is a severe neurological complication of influenza infection, including H1N1 influenza. Many cases of ANE have been reported in the pediatric literature, but very few cases have been described in adults. The cause of ANE remains unknown-the influenza virus is not known to be neurotropic, and evidence of direct viral involvement of the central nervous system (CNS) has not been demonstrated in the limited cases of ANE in which pathological specimens have been obtained. Here we report a fatal case of ANE from H1N1 influenza infection in an adult. Neuroimaging and postmortem analysis both showed widespread brain edema, necrosis, and hemorrhage, but molecular studies and postmortem pathology revealed no evidence of direct viral involvement of the CNS. This case of fatal ANE in an adult is consistent with the hypothesis generated from pediatric cases that the host immune response, and not direct viral invasion of the CNS, is responsible for pathogenesis of ANE.
COVID-19-Related Intestinal Ischemia in A 7-Year Old Boy
Authors: Balázs Fadgyas, Gábor István Garai, János Schnur, Viktória Irén Kiss, Viktória Vass, Enikő Mátyus, György Balázs, Tamas Cserni
Journal: European J Pediatr Surg Rep (2022)
Keywords: covid-19, meckel's diverticulitis, child, hypotension, pediatric multisystem inflammatory syndromeintestinal ischemia
MeSH terms: Case Reports

Severe abdominal pain and vomiting are common symptoms in children with pediatric multisystem inflammatory syndrome (PIMS). Mesenteric lymphadenitis and aseptic peritonitis are predominantly reported in cases where acute surgical abdomen was suspected and laparotomy was performed at the early stage of the pandemic. These reports generally discouraged surgeons to perform exploration in COVID-19-related cases and medical management was prioritized. Only a few COVID-19-specific surgical cases with intestinal ischemia were published. Here, we report another case of COVID-19-related intestinal ischemia complicated with Meckel's diverticulitis in a non-immunocompromised child who clearly required surgical intervention. In our case, the combination of COVID-19-related vasculitis and low blood pressure episodes may have contributed to this severe outcome.
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia
Authors: Ren Cai, Fatao Liu, Chen Hua, Zhang Yu, Michele Ramien, Claudia Malic, Wenxin Yu, Xiaolin Zhang, Yun Liu, Yunbo Jin, Xun Hu, Xiaoxi Lin
Journal: Hereditas (2018)
Keywords: capillary malformation-arteriovenous malformation, china, east asia, rasa-1 mutation, rasgap
MeSH terms: Arteriovenous Malformations / genetics, Capillaries / abnormalities, Germ-Line Mutation, Port-Wine Stain / genetics, p120 GTPase Activating Protein / genetics, Case Reports, Asian People, Child, Preschool, DNA Mutational Analysis, Humans, Male, RASA1 protein, human, p120 GTPase Activating Protein, Capillary Malformation-Arteriovenous Malformation

Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in the RASA-1 gene causing loss of function (LOF) of the RasGAP domain. To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia. This report may extend our understanding and support further studies of CM-AVM in East Asia.
Infected osteoclastoma of the knee: an unusual presentation
Authors: O B Pattanashetty, B B Dayanand, Yogesh Mapari, Monish Bami
Journal: Case Rep Oncol Med (2014)

Introduction. Giant cell tumor is a benign or locally aggressive tumor of uncertain origin that appears in mature bone, most commonly in the distal femur, proximal tibia which characteristically extends right up to the subarticular bone plate. Case Report. We report here a 35-year-old female presenting with swelling of the left knee. On examination, the swelling was solitary, about 20 × 15 cm in size with the skin over the swelling stretched and glistening. On the fifth day of hospital stay, the swelling burst open and blood tinged pus started pouring out. X-ray and MRI scan showed a well-defined T2 hyperintense expansile eccentrically located osteolytic lesion involving the metaphyseal region of the proximal tibia and extending into the subarticular space and multiple T1/T2 hypointense septations are noted within the lesion suggestive of osteoclastoma. The patient was counseled regarding the tumor and prognosis and various treatment options. She was treated successfully with above knee amputation. The tissue was sent for histopathology which confirmed osteoclastoma. Conclusion. It is important to recognize giant cell tumors early, so that they can be treated promptly with local measures to prevent morbidity and mortality in young adults.
A diagnostic dilemma: a case report
Authors: David M Comer, J David M Edgar
Journal: Cases J (2009)

Background:
A seventy nine year old lady presented with acute bilateral foot drop and paraesthesia of her lower limbs as a presenting feature of Wegener's Granulomatosis (WG).
Case presentation:
There was no evidence of pulmonary involvement and her renal function was normal. WG can masquerade as very diverse pathology. It is recognised that neuropathy can occur early and often in the absence of more classical pulmonary and renal findings, often resulting in a delay in diagnosis.
Conclusion:
Anti-neutrophil cytoplasmic antibody (ANCA) testing was particularly useful in this case permitting early diagnosis.
Sheehan Syndrome Presenting with Psychotic Manifestations Mimicking Schizophrenia in a Young Female: A Case Report and Review of the Literature
Authors: Nipun Lakshitha de Silva, Janith Galhenage, Madhubhashinee Dayabandara, Noel Somasundaram
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Introduction:
Sheehan syndrome presents with features of multiple hormone deficiencies including lactation failure and amenorrhoea as well as with features of central hypothyroidism and adrenocorticotropic hormone deficiency. Psychiatric manifestations are mostly limited to cognitive impairment. Psychotic presentations are rare and limited to case reports. Case Presentation. A 32-year-old female was evaluated for fearfulness and delusions for one year. She had persecutory and bizarre delusions, delusion of thought possession, and elementary auditory hallucinations. These began four months after the birth of her third child. The delivery had been complicated with postpartum haemorrhage. Her symptoms caused the functional decline and progressively worsened, resulting in suicidal ideation. Cognitive assessment revealed mild impairment in attention. Further inquiry revealed lethargy, constipation, cold intolerance, and lactation failure. She was slow, having dry skin, puffy face, and bradycardia with a blood pressure of 80/60 mmHg (supine) and 70/50 mmHg (standing). She had hyponatraemia, elevated creatine phosphokinase, low thyroxine, prolactin, FSH, LH, and IGF-1. She had poor cortisol and growth hormone response to the insulin tolerance test. MRI-pituitary showed empty sella. A diagnosis of Sheehan syndrome was made. Her symptoms improved completely after the initiation of levothyroxine and hydrocortisone.
Conclusions:
Sheehan syndrome can present with psychotic symptoms mimicking schizophrenia with variable involvement of cognition. Detailed reporting of these patients would enhance better characterization of the clinical presentation and risk profile of these patients.
Pediatric patients with familially inherited sitosterolemia: Two case reports
Authors: Shun-Qing Su, Di-Sheng Xiong, Xiu-Mei Ding, Jin-An Kuang, Yue-Chun Lin
Journal: Front Cardiovasc Med (2022)
Keywords: abcg5 gene, sitosterolemia, surgery heterozygous pathogenic, therapy, xanthoma
MeSH terms: Case Reports

Background:
Sitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is characterized by increased levels and accumulation of sitosterol in the plasma and local tissues.
Case descriptions:
The study subjects were two siblings (brother and sister) who had sitosterolemia with systemic multiple xanthomas as the main manifestation. The main clinical manifestations were hypercholesterolemia, premature atherosclerosis, arrhythmia, systemic multiple xanthomas, etc. After genetic testing, it was found that the patients had a compound heterozygous mutation of c.1324+1de1G in exon 7 and exon 9 of chromosome 2p21 of the adenosine triphosphate binding cassette transporter G family member 5(ABCG5) gene; the mutation at c.904+1G>A was of maternal origin, and the mutation at c. 1324+1de1G was of paternal origin. The compound heterozygous mutation of these two genes led to a metabolic disorder of plant sterols in vivo.
Conclusion:
Sitosterolemia is an autosomal recessive disease that could be effectively controlled after dietary control and oral lipid-lowering therapy with Ezetimibe. Xanthomas, which affects function and appearance, could be surgically removed, and primary wound healing could be achieved.
Artery-Only Ear Replantation in a Child: A Case Report With Daily Photographic Documentation
Authors: Shaun D Mendenhall, Justin D Sawyer, Joshua M Adkinson
Journal: Eplasty (2016)
Keywords: artery-only replantation, ear replantation, leech therapy, microsurgery, venous congestion

Objective: Ear replantation poses a significant technical challenge even for the skilled microsurgeon. Many ear amputations result from avulsion and thus have damaged and often diminutive vessels with a paucity of veins. Artery-only replantation is an option for ear salvage, but little is published on the clinical course and appearance after this procedure. Methods: A subtotal ear replantation was performed on a 10-year-old boy without a venous anastomosis. Leech therapy was used to manage venous congestion postoperatively, and daily photography was performed to document the clinical course. Results: Postoperative venous congestion was successfully managed with leech therapy. Four days after the replantation, arterial thrombosis occurred that required a take back and salvage with an interposition vein graft for arterial repair. Native venous drainage and arterial revascularization from skin edges were evident by postoperative day 12, and leeches were discontinued on day 14. The patient required debridement of the posterior ear and superior helix necrotic skin, with burying of the upper portion of the ear in a superior auricular skin flap. The ear was subsequently released from the head, and the exposed portions were covered successfully with a full-thickness skin graft. Conclusions: While arterial and venous anastomoses should always be attempted, arterial-only ear replantation can provide excellent results when venous congestion is properly managed. Daily photography can be a useful tool to monitor subtle skin color changes that may indicate native venous drainage and arterial revascularization.
Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
Authors: Melody Rasouli, Katherine McDaniel, Michael Awadalla, Karine Chung
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism. Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.
Loxapine-Induced Priapism: A Case Report and Review of the Literature on Antipsychotic-Induced Priapism
Authors: Alexandra L Dodd, Sunny Patel, David C Fipps
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

In this case report, a patient with schizophrenia experienced recurrent priapism while undergoing treatment of acute psychosis. This necessitated a review of the emergent treatment of priapism and discussion of the difficulties in treating priapism in a patient with acute psychosis. Therefore, this case report explores multiple possible etiologies of priapism within the realm of psychiatric care, reviews the proposed mechanisms of medication-induced priapism, and considers the psychopharmacological concepts that pertain to antipsychotic selection in the context of antipsychotic-induced priapism.
A Case Report of Premalignant Plasma Cell Dyscrasia-Induced Renal Failure in a 31-Year-Old Female
Authors: Ayrton Bangolo, Mahabuba Akhter, Amer Jarri, Manpreet Kaur, Ali Atoot, Parul Jandir, Mahmood Ibrahim, Lochana Manandhar, Adam Atoot
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Monoclonal gammopathy of renal significance (MGRS) is a rare disorder in which monoclonal immunoglobulin secreted by nonmalignant B cell or plasma cell clone causes kidney damage. Although MGRS is a premalignant condition, it can cause severe kidney disease and end-stage renal disease (ESRD) at any age. Herein, we present a 31-year-old female with past medical history of lupus nephritis who presented with signs of volume overload and worsening renal function despite adequate immunosuppressive therapy. Renal biopsy revealed heavy and light chain deposition consistent with MGRS. This case report demonstrates the importance of including MGRS in the differential diagnosis of worsening renal function despite adequate treatment, raising awareness of this premalignant yet morbid condition.
Duplication cyst of the sigmoid colon
Authors: Bastian Domajnko, Rabih M Salloum
Journal: Gastroenterol Res Pract (2009)
MeSH terms: Case Reports

A 21-year-old male with developmental delay presented with abdominal pain of two days' duration. He was afebrile and his abdomen was soft with mild diffuse tenderness. There were no peritoneal signs. Plain x-ray demonstrated a large air-filled structure in the right upper quadrant. Computed tomography of the abdomen revealed a 9 x 8 cm structure adjacent to the hepatic flexure containing an air-fluid level. It did not contain oral contrast and had no apparent communication with the colon. At operation, the cystic lesion was identified as a duplication cyst of the sigmoid colon that was adherent to the right upper quadrant. The cyst was excised with a segment of the sigmoid colon and a stapled colo-colostomy was performed. Recovery was uneventful. Final pathology was consistent with a duplication cyst of the sigmoid colon. The cyst was attached to the colon but did not communicate with the lumen.
Proteomic analysis of cerebrospinal fluid in a fulminant case of multiple sclerosis
Authors: Judit Füvesi, Jörg Hanrieder, Krisztina Bencsik, Cecilia Rajda, S Krisztián Kovács, László Kaizer, Sándor Beniczky, László Vécsei, Jonas Bergquist
Journal: Int J Mol Sci (2012)
Keywords: fulminant, isobaric tag labeling, matrix assisted laser desorption/ionization time of flight tandem mass spectrometry (maldi tof/tof ms), multiple sclerosis, protein quantification, shotgun-proteomics
MeSH terms: Multiple Sclerosis / cerebrospinal fluid, Proteome / metabolism, Proteomics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Humans, Male, Pilot Projects, Tandem Mass Spectrometry, Proteome

Multiple Sclerosis (MS) is a chronic disease, but in rare fulminant cases rapid progression may lead to death shortly after diagnosis. Currently there is no diagnostic test to predict disease course. The aim of this study was to identify potential biomarkers/proteins related to rapid progression. We present the case history of a 15-year-old male MS patient. Cerebrospinal fluid (CSF) was taken at diagnosis and at the time of rapid progression leading to the patient's death. Using isobaric tag labeling and nanoflow liquid chromatography in conjunction with matrix assisted laser desorption/ionization time of flight tandem mass spectrometry we quantitatively analyzed the protein content of two CSF samples from the patient with fulminant MS as well as one relapsing-remitting (RR) MS patient and one control headache patient, whose CSF analysis was normal. Seventy-eight proteins were identified and seven proteins were found to be more abundant in both fulminant MS samples but not in the RR MS sample compared to the control. These proteins are involved in the immune response, blood coagulation, cell proliferation and cell adhesion. In conclusion, in this pilot study we were able to show differences in the CSF proteome of a rapidly progressing MS patient compared to a more typical clinical form of MS and a control subject.