OpenMed/multicare-articles huggingface dataset:
IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome
Authors: Stéphanie Mourad, Mélanie Bilodeau, Mathieu Roussy, Louise Laramée, Luc Boulianne, Alexandre Rouette, Loubna Jouan, Patrick Gendron, Michel Duval, Pierre Teira, Josée Hébert, Henrique Bittencourt, Yves Pastore, Josette-Renée Landry, Sonia Cellot
Journal: Front Oncol (2019)
Keywords: shwachman-diamond syndrome, cooperating mutation, leukemia, molecular profiling, pediatric patient, predisposition syndrome
MeSH terms: Case Reports

Shwachman-Diamond syndrome (SDS) is a rare and systemic disease mostly caused by mutations in the SBDS gene and characterized by pancreatic insufficiency, skeletal abnormalities, and a bone marrow dysfunction. In addition, SDS patients are predisposed to develop myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), typically during adulthood and associated with TP53 mutations. Although most SDS diagnoses are established in childhood, the nature and frequency of serial bone marrow cell investigations during the patients' lifetime remain a debatable topic. The precise molecular mechanisms leading to AML progression in SDS patients have not been fully elucidated because the patient cohorts are small and most disease monitoring is conducted using standard histological and cytogenetic approaches. Here we report a rare case of a patient with SDS who was diagnosed with AML at 5 years of age and survived. Intermittent neutropenia preceded the AML diagnostic but serial bone marrow monitoring according to the standard of care revealed no cytogenetic anomalies nor signs of clonal hematopoiesis. Using next generation sequencing approaches to find cytogenetically cryptic pathogenic mutations, we identified the cancer hotspot mutation c.394C>T/p.Arg132Cys in IDH1 with high variant allelic frequency in bone marrow cells, suggesting clonal expansion of a major leukemic clone karyotypically normal, in the SDS-associated AML. The mutation was somatic and likely occurred at the leukemic transformation stage, as it was not detected in a matched normal tissue nor in bone marrow smear prior to AML diagnosis. Gain-of-function mutations in IDH1, such as c.394C>T/p.Arg132Cys, create a neo-activity of isocitrate dehydrogenase 1 converting α-ketoglutarate into the oncometabolite D-2-hydroxyglutarate, inhibiting α-ketoglutarate-dependent enzymes, such as histone and DNA demethylases. Overall, our results suggest that along with previously described abnormalities such as TP53 mutations or monosomy7, 7q-, which are all absent in this patient, additional mechanisms including IDH1 mutations drive SDS-related AML and are likely associated with variable outcomes. Sensitive techniques complementary to standard cytogenetics, such as unbiased or targeted panel-based next generation sequencing approaches, warrant testing for monitoring of myelodysplasia, clonal hematopoiesis, and leukemia in the context SDS. Such analyses would also assist treatment decisions and allow to gain insight into the disease biology.
Incidental screening of descending colon carcinoma by 18F-FDG PET/MR imaging in a patient with endometrial carcinoma: A case report of Lynch syndrome
Authors: Xiaoran Li, Xian Zhang, Bixiao Cui, Jie Ma, Shijun Wang, Jie Lu
Journal: Front Oncol (2023)
Keywords: 18f-fdg, lynch syndrome, pet/mr, colon carcinoma, endometrial carcinoma
MeSH terms: Case Reports

Background:
Lynch syndrome (LS) is associated with the early onset of carcinoma and the development of numerous types of carcinoma, particularly endometrial and colon carcinomas. LS-associated endometrial carcinoma (EC) has been widely noted by gynecologists. However, there is still a lack of a non-invasive and reliable tool for early screening for LS in patients with EC. There are a few reports of PET and MR images revealing EC associated with LS.
Case presentation:
A 63-year-old female patient presented with postmenopausal intermittent vaginal bleeding. Transvaginal ultrasonography showed a small amount of bleeding in the uterine cavity and no thickening of the endometrium. The levels of relevant tumor markers were all within normal ranges. The endometrial cytology examination hint to possible endometrial adenocarcinoma. The hybrid 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography/magnetic resonance (PET/MR) images showed a polypoid mass in the lower uterine segment and unexpectedly found a mass in the descending colon. A colonoscopy confirmed that there was a colon adenocarcinoma in the same place as the PET/MR images. Thus, LS was suspected even though this patient did not match the clinical diagnostic criteria. The gene analysis of both tumors was performed to identify microsatellite instability (MSI) for the diagnosis of Lynch syndrome. Postoperative adjuvant therapy and follow-up protocol customized for patients with Lynch syndrome.
Conclusion:
This case highlights that hybrid 18F-FDG PET/MR imaging could play a key role in the screening for Lynch syndrome in EC patients.
Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype
Authors: Monika Włodarczyk, Monika Lejman
Journal: Mol Cytogenet (2020)
Keywords: fish, gene, microarray, nijmegen breakage syndrome, non-hodgkin lymphoma
MeSH terms: Case Reports

Background:
Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of developing lymphoproliferative disorders, mainly non-Hodgkin lymphoma (NHL) and acute lymphoblastic leukemia (ALL). NBS patients are 50 times more likely to develop malignancy than healthy controls. Moreover, in NBS, mortality rate from cancers, mainly lymphomas, is the highest among all diseases associated with excessive fragility of chromosomes.
Case presentation:
This work presents a patient previously diagnosed with Nijmegen breakage syndrome who rapidly developed T-NHL despite of constant medical supervision. Cytogenetic karyotype and microarray tests revealed complex aberrations, indicating enhanced chromosomal instability. Despite initial steroid therapy, the patient passed away due to multiorgan failure.
Conclusions:
The lack of well-established diagnostic procedures in NBS patients make it difficult to determine any therapeutic target or predictive marker. Moreover, anticancer treatment is the biggest challenge in NBS patients due to therapy-related toxicity and immunodeficiency. Our case indicates the importance of identifying parameters useful in prognosis of disease outcome, as main risk factor affecting overall survival in NBS patients is an extremely high incidence of malignancy development.
A Rare Case of Cholecystitis Caused by Raoultella planticola
Authors: Isabel Teo, Jonathan Wild, Saikat Ray, David Chadwick
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

A 62-year-old female presented with right upper quadrant pain. Clinical examination and ultrasound scan were consistent with gallstones and acute cholecystitis. She received 3 days of intravenous Co-amoxiclav and was discharged with 5-days of oral antibiotics with arrangements to return for an elective cholecystectomy. This was performed 5 months later which revealed an inflamed gallbladder and a localised abscess secondary to gallbladder perforation. Fluid from the gallbladder was taken which cultured Raoultella planticola, a gram-negative, nonmotile environmental bacteria (Bagley et al. (1981)). This is the first report of biliary sepsis with a primary infection by R. planticola. This patient was treated with a 5-day course of oral Co-amoxiclav and made a full recovery.
Refractory Immune Thrombocytopenic Purpura with Abdominal Splenosis: A Complex Case
Authors: Joseph F Mort, Danh T Tran, Sean C Dougherty, Robert Zielinski, Michael D Williams, Kelly M Davidson
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Immune thrombocytopenia (ITP) is an acquired thrombocytopenia resulting from immune-mediated platelet destruction via antiplatelet antibodies and T cells. Medical management of ITP includes corticosteroids and multiple other adjunct therapies, with splenectomy generally being reserved for severe, refractory cases. In this clinical case report, we describe the evaluation of a 35-year-old male with a history of prior traumatic splenic injury who presented to the emergency department endorsing easy bruising and a petechial rash, ultimately found to have severe thrombocytopenia. The patient was diagnosed with primary ITP that proved to be refractory to a number of first- and second-line medical therapies. His course was complicated by the presence of abdominal splenosis discovered at the time of planned splenectomy and intra-abdominal hemorrhage requiring splenic artery embolization thereafter. To our knowledge, this is one of few published cases of ITP complicated by abdominal splenosis, highlighting the need to consider splenosis and the presence of accessory splenic tissue in cases of refractory ITP.
Ear Prosthesis for Postburn Deformity
Authors: Alagesan Chinnasamy, Vidhya Gopinath, Ashish R Jain
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Prosthodontics is not just confined to replacement of missing teeth but beyond one's scope. The fabrication of any extraoral maxillofacial prosthesis presents the prosthodontist with several phenomenal challenges. Psychologically, these patients are severely affected either by congenital absence or loss of ear due to trauma or burns. Replacement or reconstruction can be done by surgical or prosthetic approach. However, not all situations are favourable to surgical reconstruction. This article emphasises on the steps in fabrication of ear prosthesis for burn deformity.
Thyrotoxic periodic paralysis presenting in an African-American teenage male: case report
Authors: Joshua Glass, Jennifer Osipoff
Journal: Int J Pediatr Endocrinol (2020)
Keywords: adolescent, hyperthyroidism, hypokalemia, thyrotoxic periodic paralysis, thyrotoxicosis
MeSH terms: Case Reports

Background:
Thyrotoxic periodic paralysis is a rare complication of hyperthyroidism and is associated with hypokalemia and muscle paralysis. This condition is most commonly seen in Asian men.
Case presentation:
We report on a 14-year-old African American male with Graves' disease and intermittent asthma who presented with bilateral leg weakness. The patient demonstrated signs of thyrotoxicosis and laboratory evaluation revealed hypokalemia and hyperthyroidism. Following the administration of potassium supplementation clinical status improved and the patient was discharged home on a high dose of methimazole and propranolol. At a 6-month follow up visit, he was found to be clinically euthyroid and demonstrated no signs of hyperthyroidism or muscle weakness.
Conclusion:
Children presenting with weakness and hypokalemia should be investigated for thyroid dysfunction. Correction of hypokalemia improves acute presentation, but the patient will remain at risk for paralysis until euthyroid state is achieved.
Staphylococcus aureus Prostatic Abscess in the Setting of Prolonged S. aureus Bacteremia
Authors: Emily M Eichenberger, Christopher J Shoff, Robert Rolfe, Steven Pappas, Mary Townsend, Christopher J Hostler
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Staphylococcus aureus rarely causes prostatic abscess. We report five cases of S. aureus prostatic abscess in the setting of bacteremia at our institution that occurred between 12/2018 and 05/2019. Three of the cases were caused by MRSA, and four of the patients underwent drainage of the prostatic abscess. All five patients received a minimum of six weeks of antibiotic therapy. One of the five patients died during the course of their infection. S. aureus prostatic abscess with bacteremia is an uncommon but serious disease. Treatment should consist of a combination of prolonged antibiotic therapy and surgical drainage when feasible.
Surgical Management of Iatrogenic Pigment Dispersion Glaucoma
Authors: Camille Van Mierlo, Luis Abegão Pinto, Ingeborg Stalmans
Journal: J Curr Glaucoma Pract (2015)
Keywords: iol-exchange, iris chafing, pigment dispersion glaucoma
MeSH terms: Case Reports

Introduction:
Iatrogenic pigment dispersion syndrome generally originates from a repetitive, mechanical trauma to the pigmented posterior epithelium of the iris. This trauma can arise after intraocular surgery, most commonly due to an abnormal contact between the intraocular lens (IOL) and the iris. Whether surgical removal of this primary insult can lead to a successful intraocular pressure (IOP) control remains unclear.
Methods:
Case-series. Patients with IOP elevation and clinical signs of pigment dispersion were screened for a diagnosis of iatrogenic IOL-related pigment dispersion.
Results:
Three patients in which the IOL or the IOL-bag complex caused a pigment dispersion through a repetitive iris chafing were selected. In two cases, replacement of a sulcus-based single-piece IOL (patient 1) or a sub-luxated in-the-bag IOL (patient 2) by an anterior-chamber (AC) iris-fixed IOL led to a sustained decrease in IOP. In the third case, extensive iris atrophy and poor anatomical AC parameters for IOL implantation precluded further surgical intervention.
Conclusion:
IOL-exchange appears to be a useful tool in the management of iatrogenic pigment dispersion glaucoma due to inappropriate IOL implantation. This cause-oriented approach seems to be effective in controlling IOP, but should be offered only if safety criteria are met. How to cite this article: Van Mierlo C, Abegao Pinto L, Stalmans I. Surgical Management of Iatrogenic Pigment Dispersion Glaucoma. J Curr Glaucoma Pract 2015;9(1):28-32.
Partial avulsion of the ulnaris lateralis and enthesiopathy of the lateral epicondyle of the humerus in a thoroughbred race horse
Authors: Neal Ashton
Journal: Ir Vet J (2018)

Background:
There is relatively little literature on elbow disease in the horse. The only published reports on soft tissue conditions describe collateral ligament and biceps brachii injuries.
Case presentation:
A three-year old Thoroughbred gelding presented with a history of acute onset right forelimb lameness of less than one week duration, one month after commencing training in a National Hunt racing yard. Physical examination and peri-neural anaesthesia failed to localise the lesion. Lameness was localised to the distal humerus by nuclear scintigraphy and intra-articular anaesthesia. A partial avulsion of the tendinous origin of the ulnaris lateralis and enthesiopathy of the lateral humeral epicondyle was diagnosed on ultrasonography. Ultrasonographic findings were loss of longitudinal fibre pattern, a discrete hypo-echoic region within the ulnaris lateralis tendon of origin, and remodelling of the lateral epicondyle of the right humerus at the site of the origin of the ulnaris lateralis. No abnormalities were identified on radiography. The lameness did not resolve with rest, but was successfully treated with extra corporal shockwave therapy (ECSWT) and intra-lesional corticosteroid injections.
Conclusion:
This is the first report of partial avulsion of the ulnaris lateralis and enthesiopathy of the lateral humeral epicondyle in the horse. In contrast to other reported soft tissue conditions of the elbow, this horse had a successful return to work. This case highlights the value of ultrasonography in assessing peri-articular soft tissues, and the importance of pain relief as treatment in some soft tissue injuries.
Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation
Authors: Qin Zhang, Yujia Huo, Qinggang Sun, Nan Liu, Hongchuan Shi, Minghui Wang, Jinming Xiao, Hanzi Yuan, Xiangfeng Tang
Journal: Front Immunol (2023)
Keywords: hb bristol-alesha, haploidentical, hematopoietic stem cell transplantation, hemolytic anemia, unstable hemoglobinopathy
MeSH terms: Hematopoietic Stem Cell Transplantation, Hemoglobinopathies / genetics, Hemoglobinopathies / therapy, Case Reports, Research Support, Non-U.S. Gov't, Blood Transfusion, Child, Preschool, Hemolysis, Humans, Male, hemoglobin Bristol

Unstable hemoglobinopathies are a rare, heterogeneous group of diseases that disrupt the stability of hemoglobin (Hb), leading to chronic hemolysis and anemia. Patients with severe phenotypes often require regular blood transfusions and iron chelation therapy. Although rare, studies have reported that hematopoietic stem cell transplantation (HSCT) seems to be an available curative approach in transfusion-dependent patients with unstable hemoglobinopathies. Here, we describe successful haploidentical HSCT for the treatment of an unstable Hb variant, Hb Bristol-Alesha, in a 6-year-old boy with severe anemia since early childhood. Two years after transplantation, he had a nearly normal hemoglobin level without evidence of hemolysis. DNA analysis showed complete chimerism of the donor cell origin, confirming full engraftment with normal erythropoiesis.
Surgical orthodontic treatment of an impacted canine in the presence of dens invaginatus and follicular cyst
Authors: Marialuce Spallarossa, Carola Canevello, Francesca Silvestrini Biavati, Nicola Laffi
Journal: Case Rep Dent (2014)

Introduction. "Dens invaginatus" is a dental anomaly which originates from the invagination of the ameloblastic epithelium into the lingual surface of the dental crown during the odontogenesis. It can cause early pulpal necrosis, abscesses, retention or dislocation of contiguous elements, cysts, and internal resorptions. It normally affects the upper lateral incisors. In the following study the authors will discuss the etiology, the physiopathology, and the surgical-orthodontic management of a rare case of impacted canine associated with dens invaginatus and follicular cyst, with the aim of highlighting the importance of taking any therapeutic decision based on the data available in the literature. Case Report. The present study describes a combined surgical-orthodontic treatment of an impacted canine associated with a lateral incisor (2.2) suffering from type III dens invaginatus with radicular cyst, in a 15-year-old patient. Discussion. When treating a dens invaginatus there are different therapeutic solutions: they depend on the gravity of the anomaly and on the association with the retention of a permanent tooth. The aesthetic and functional restoration becomes extremely important when performing a surgical-orthodontic repositioning.
Ultrasound Diagnosis of Duodenal Web
Authors: Nando De Vulder, Marie-Sofie Walgraeve
Journal: J Belg Soc Radiol (2022)
Keywords: duodenal web, neonate, ultrasound
MeSH terms: Case Reports

Teaching Point: Adequate dynamic evaluation of the duodenum by ultrasound can aid in the differential diagnosis of high intestinal obstruction.
Case report: Rare restrictive cardiomyopathy with ventricular fibrillation as initial symptom rescued by automatic external defibrillator in a pediatric patient
Authors: Lianfu Ji, Jinlong Chen, Yuming Qin, Shiwei Yang
Journal: Front Cardiovasc Med (2022)
Keywords: aed, tnni3, constrictive pericarditis, restrictive cardiomyopathy, ventricular fibrillation
MeSH terms: Case Reports

Restrictive cardiomyopathy (RCM) is a rare form of heart muscle disease with poor prognosis. Its primary manifestations were caused by systemic or pulmonary circulation congestion. Here, we reported a case of RCM with ventricular fibrillation as initial symptom in a 7-year-old boy. The child suffered cardiac and respiratory arrest suddenly while exercising at school and immediately was given external chest compression and defibrillation by the school's equipped automatic external defibrillator (AED). The rescue was successful. At the time of the AED discharge, his electrocardiogram (ECG) indicated ventricular fibrillation. Upon further examination, the echocardiogram revealed enlarged bilateral atria, decreased diastolic function and normal ventricular thickness. Genetic analysis identified a heterozygous missense mutation [c.611(exon8)G>A,p.R204H] of TNNI3 in the proband boy. This case contributes to our understanding of RCM in children and emphasizes the importance of having AEDs available in public places.
Olfactory Reference Syndrome with Suicidal Attempt Treated with Pimozide and Fluvoxamine
Authors: Oluwole Jegede, Inderpreet Virk, Karthik Cherukupally, Wil Germain, Patricia Fouron, Tolu Olupona, Ayodeji Jolayemi
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

The core symptomatology of the Olfactory Reference Syndrome (ORS) is characterized by a preoccupation with the belief that one emits an offensive odor, albeit not perceived by others. The present case is that of a 75-year-old African American woman, with an unclear past psychiatric history, who was brought into our Emergency Room after a suicide attempt. The patient reported a three-year history of a "rotten" smell from her vagina. She adamantly believes that she smells despite being told otherwise by people. The patient reported a trial of several feminine products to get rid of this smell and multiple visits to specialists but her symptoms persisted. Her symptoms involved a significant depressed mood and deterioration in her social functioning, interpersonal relationships, and self-care. She was constantly in the shower and had stopped leaving her apartment due to worries that people might smell her vagina. The culmination of her distress was the suicidal attempt, for which she was brought to the hospital. She was admitted to the inpatient psychiatric unit and started on Pimozide and Fluvoxamine. The patient made remarkable progress within a few days on admission and in the course of her hospitalization. Follow-up in our outpatient clinic shows that the patient remains completely asymptomatic with significant progress in her social functioning.
Cervicofacial Cellulitis due to Staphylococcus aureus with Jugular Vein Thrombosis and Multiple Septic Pulmonary Embolism: A Lemierre-Like Syndrome
Authors: Ibrahima Niang, Latyr Junior Diouf, Papa Abdou Diop, Daouda Thioub, Alassane Sarr, Khadidiatou Ndiaye Diouf, Geraud Lera Akpo, Abdoulaye Dione Diop, Sokhna Ba
Journal: Case Rep Infect Dis (2022)
MeSH terms: Case Reports

This is the case of a 28-year-old male patient with no particular pathological history who presented with an inflammatory swelling of the right cheek with pus in an infectious context. Cervicofacial CT with contrast injection allowed the diagnosis of a right cervicofacial cellulitis, associated with a jugular venous thrombosis extending to the superior vena cava. It also revealed septic pulmonary metastases in the form of multiple excavated pulmonary nodules. The analysis of the pus sample allowed the isolation of Staphylococcus aureus as the causative germ. This led to the diagnosis of a Lemierre-like syndrome, which is a variant of the Lemierre syndrome. Despite appropriate antibiotic treatment and anticoagulation, the patient died after 16 days of hospitalization.
Sinonasal schwannoma with new bone formation expressing bone morphogenic protein
Authors: Satoru Kodama, Tomoyo Okamoto, Masashi Suzuki
Journal: Int J Otolaryngol (2010)
MeSH terms: Case Reports

Schwannoma is a benign tumor that arises from the sheath of myelinated nerve fibers and may occur in any part of the body. Osteogenesis in schwannoma is extremely rare and, to date, new bone formation in sinonasal schwannoma has not yet been reported. Here, we describe the first reported case of sinonasal schwannoma with new bone formation. The tumor was successfully treated by endoscopic sinus surgery, and the patient showed no evidence of recurrence 24 months postoperatively. Immunohistochemically, the tumor expressed bone morphogenic protein 4, indicating a possible role of this protein in the new bone formation in schwannomas.