OpenMed/multicare-articles huggingface dataset:
Successful endoscopic management of fish bone embedded into the bladder wall
Authors: Koichi Kodama, Mitsuo Ofude, Isamu Motoi, Yoshinobu Hinoue, Katsuhiko Saito
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We report a case of a pyogenous vesical abscess resulting from an ingested fish bone embedded in the bladder wall that was treated endoscopically in an asymptomatic man. Computed tomography of the abdomen showed a linear radiopaque structure in the thickened left anterolateral wall of the bladder. Cystoscopy revealed a protruding mass, covered with normal-appearing mucosa, with outflow of pus from a shallow recess. Histopathological findings indicated that the transurethrally removed linear structure, located in the submucosa, was compatible with fish bone. A high index of suspicion should be maintained for the correct diagnosis to be made.
Isolated Small Finger Distal Interphalangeal Joint Dupuytren's Contracture
Authors: Syed K Mehdi, John D King, Sara Keshtvarz, Srinath Kamineni, Vikas Dhawan
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Dupuytren's contracture is a disease involving abnormal myofibroblast proliferation and collagen deposition leading to the formation of pathologic cords in the hand. Given that Dupuytren's contractures rarely extend to the distal interphalangeal joint (DIP), affecting only 5% of patients, there are few cases reported in the literature. Collagenase injection is a frequently used option for minimally invasive treatment of Dupuytren's disease with greater than a 20-degree joint contracture. Unfortunately, there is limited research on the effectiveness of these injections in isolated DIP joint deformities. We present a case of a 61-year-old right hand-dominant male with a 2-year history of isolated right small finger Dupuytren's contracture at the DIP joint who achieved significant improvement after collagenase injection.
Extensive Circumferential Heterotopic Ossification Discovered at the Base of a Loop Ileostomy
Authors: Ahmad Bosaily, John Edminister, Samarchitha Magal, Mohammad Jamil, Amy Lynn, Glenn Hall
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Heterotopic ossification is a rare phenomenon defined by the formation of bone within nonossifying soft tissues. A rare variant of heterotopic ossification is heterotopic mesenteric ossification (HMO), in which there is involvement of the mesentery and surrounding intra-abdominal structures. There are only four previously reported cases of HMO involving an ileostomy. We present a case of HMO affecting an ileostomy which was discovered during elective stoma reversal in a 52-year-old male who required fecal diversion following perineal necrotizing fasciitis.
Dignity Conserving Therapy: An Intervention for Addressing Psychosocial and Existential Distress in Patients with Serious Illness
Authors: Jessica Weng, Deirdre R Pachman, Ellen Wild, Cory J Ingram
Journal: Palliat Med Rep (2022)
Keywords: dignity therapy, meaning-centered psychotherapy, oncology palliative care, palliative care
MeSH terms: Case Reports

Patients with serious illnesses may experience existential and psychosocial distress contributing to their pain and suffering. Addressing existential distress is challenging and may require a multidisciplinary approach. Often, providers feel uncomfortable or ill equipped to care for patients suffering from this distress. In the sample case, the patient has a life-limiting disease and is concerned about his family forgetting him, experiencing loss of dignity and narrative foreclosure. Loss of dignity is sensing hopelessness and worthlessness and a loss of self-determination. Narrative foreclosure is the premature conviction that one's life story has effectively ended. Beneficial interventions include meaning-centered psychotherapy and dignity therapy (DT). Both have an underlying theme of attempting to reverse the narrative foreclosure for patients with serious illnesses and maintain a sense of meaning in life. In addition, patients can be referred to palliative care to enhance coping and decrease depressive symptoms. Dr. Harvey Chochinov has outlined a framework that clinicians can use to care for their patients in a compassionate manner to specifically combat meaninglessness. In DT, a generativity document is created for the patient and their loved ones as part of the treatment along with the opportunity to answer the dignity conserving question. Success of this route of intervention includes greater will to live, reductions in stress, and benefits perceived by family. This article aims to give a framework to treat patients with serious illnesses experiencing psychosocial and/or existential distress.
Candida chorioretinitis in renal transplant recipient with candidemia related to contaminated organ preservation fluid: A role for dilated fundus examination in its management
Authors: Raphaël Schils, Radhika Rampat, Jean-Marie Rakic, François-Xavier Crahay
Journal: IDCases (2023)
Keywords: candidemia, chorioretinitis, fundus, preservation fluid, transplantation
MeSH terms: Case Reports

Infection by Candida spp is a potentially life-threatening condition among both immunocompromised and immunocompetent patients. Candida chorioretinitis can occur as a complication of candidemia and may develop into endophthalmitis if not detected and treated early, which can lead to irreversible visual loss. Here, we report on a 52-year-old diabetic woman who developed candidemia complicated by bilateral chorioretinitis following kidney transplantation. Antifungal therapy was immediately started but fundoscopic examination highlighted multiple bilateral chorioretinal lesions. Given new onset of vomiting and increased number of retinal lesions on repeat fundus examination a few weeks later, the patient underwent a positron emission tomography (PET) which revealed a mycotic arterial pseudoaneurysm at the renal graft anastomosis. It led ineluctably to transplantectomy, aneurysm flattening and vascular reconstruction a few days later. Blood cultures remained negative and fundus examination progressively showed a regression of chorioretinal lesions until their complete disappearance a few months later. Our case emphasizes the importance of a non-invasive examination which allowed to accelerate and optimize in a consequential way the management of the patient leading to her recovery after a long antifungal treatment.
Case Report: Prevention of Rhabdomyolysis-Associated Acute Kidney Injury by Extracorporeal Blood Purification With Cytosorb®
Authors: Simon Rauch, Andrea Borgato, Ewald Gruber, Carlo Leggieri, Matthias Bock, Paolo Mario Enrico Seraglio
Journal: Front Pediatr (2022)
Keywords: cytosorb®, acute kidney injury, blood purification, crush injury, rhabdomyolysis
MeSH terms: Case Reports

Acute kidney injury (AKI) is a severe complication of rhabdomyolysis. The pathophysiology of rhabdomyolysis-associated AKI is complex, but myoglobin related damage plays a major role. Extracorporeal removal of myoglobin is therefore an appealing target to prevent AKI, however, attempts to remove myoglobin with standard dialysis membranes have so far been disappointing. Here we report the case of a 12-year-old boy with severe trauma-related rhabdomyolysis where we successfully utilized continuous renal replacement therapy in combination with Cytosorb® to eliminate myoglobin and prevent AKI. The early use of extracorporeal myoglobin removal with Cytosorb® after severe rhabdomyolysis might be an option and should be further investigated as a tool to prevent the development of AKI.
Multi-omics integrated analyzed the origin of intrahepatic mucinous cholangiocarcinoma: a case report
Authors: Xiaokang Zeng, Huohui Ou, Chong Zeng, Qingbo Liu, Weidong Wang, Jie Yao
Journal: Front Oncol (2023)
Keywords: differentially expressed genes, intrahepatic cholangiocarcinoma, intrahepatic mucinous cholangiocarcinoma, mucin, whole exome sequencing
MeSH terms: Case Reports

Intrahepatic mucinous cholangiocarcinoma (IMCC) is a rare subtype of intrahepatic cholangiocarcinoma (IHCC). Limited data describe the genetic characteristics of IMCC and insights on its pathogenesis are lacking. Here, we employed a multi-omics approach to analyze somatic mutations, transcriptome, proteome and metabolome of tumor tissue obtained from a case of IMCC in order to clarify the pathogenesis of IMCC. A total of 54 somatic mutations were detected, including a G12D mutation in KRAS that is likely to be involved in the onset of IMCC. The genes consistently up-regulated at the transcription level and in the proteome were enriched for mucin and mucopolysaccharide biosynthesis, for cell cycle functions and for inflammatory signaling pathways. The consistently down-regulated genes were enriched in bile synthesis and fatty acid metabolism pathways. Further multi-omics analysis found that mucin synthesis by MUC4 and MUC16 was elevated by up-regulated expression of mesothelin (MSLN). Moreover, transcription factor ONECUT3 was identified that possibly activates the transcription of mucin and mucopolysaccharide biosynthesis in IMCC.
The Great Impostor: Transaminitis Masking the Coinfection of Syphilis and Human Immunodeficiency Virus
Authors: Sunit Tolia, Hassan Kassem, Ana Capatina-Rata
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Introduction. The incidence of syphilis continues to rise in the United States over the past 15 years. This disease process is classified into stages and may present with a coinfection of Human Immunodeficiency Virus (HIV). Case Report. We present a case of a 32-year-old African American male who presented with cutaneous manifestations of secondary syphilis and transaminitis. A workup revealed that the transaminitis was secondary to underlying syphilitic hepatitis in the presence of HIV coinfection. The patient had a reactive rapid plasma reagin (RPR) of 1 : 64 TU and reactive Treponema pallidum particle agglutination assay (TPPA). Lab findings showed alkaline phosphate (ALP) of 648 unit/L, aspartate aminotransferase (AST) of 251 unit/L, and alanine aminotransferase (ALT) of 409 unit/L. Conclusion. Syphilitic hepatitis is a recognized entity in the medical literature. It is a manifestation of secondary syphilis and it is more commonly seen in coinfected patients with both syphilis and HIV. Therefore, primary care physicians should keep infectious etiologies (e.g., syphilis and HIV) in the differential diagnosis of patients who present with unexplained liver dysfunction in a cholestatic pattern.
Down syndrome regression disorder, a case series: Clinical characterization and therapeutic approaches
Authors: Sidney Bonne, Anton Iftimovici, Clotilde Mircher, Martine Conte, Cécile Louveau, Adrien Legrand, Charlotte Danset-Alexandre, Costanza Cannarsa, Alexis Debril, Angèle Consoli, Marie-Odile Krebs, Pierre Ellul, Boris Chaumette
Journal: Front Neurosci (2023)
Keywords: catatonia, corticosteroids, down syndrome, inflammation, personalized medicine, trisomy 21

Down syndrome (DS) is one of the most frequent genetic disorders and represents the first cause of intellectual disability of genetic origin. While the majority of patients with DS follow a harmonious evolution, an unusual neurodevelopmental regression may occur, distinct from that described in the context of autism spectrum disorders, called down syndrome regression disorder (DSRD). Based on four patients, two males and two females, with age range between 20 and 24, treated at the Reference Center for Rare Psychiatric Disorders of the GHU Paris Psychiatry and Neurosciences [Pôle hospitalo-universitaire d'Évaluation Prévention et Innovation Thérapeutique (PEPIT)], we describe this syndrome, discuss its etiologies and propose therapeutic strategies. DSRD often occurs in late adolescence. There is a sudden onset of language disorders, loss of autonomy and daily living skills, as well as behavioral symptoms such as depression, psychosis, or catatonia. These symptoms are non-specific and lead to an overlap with other diagnostic categories, thus complicating diagnosis. The etiologies of the syndrome are not clearly identified but certain predispositions of patients with trisomy 21 have suggested an underlying immune-mediated mechanism. Symptomatic therapeutic approaches (serotonergic antidepressants, atypical antipsychotics, benzodiazepines) were not effective, and generally associated with poor tolerance. Etiological treatments, including anti-inflammatory drugs and corticosteroids, led to partial or good recovery in the four cases. Early recognition of regressive symptoms and rapid implementation of adapted treatments are required to improve the quality of life of patients and their families.
Diabetic myonecrosis: a diagnostic challenge in patients with long-standing diabetes
Authors: Robin Bhasin, Ibrahim Ghobrial
Journal: J Community Hosp Intern Med Perspect (2013)
Keywords: diabetes mellitus, diabetic myonecrosis, microvascular complications, proliferative myositis
MeSH terms: Case Reports

A 51-year-old female with a history of type 1 diabetes mellitus (DM) presented with sudden onset of pain and swelling of the left thigh. Her initial evaluation revealed mildly elevated erythrocyte sedimentation rate and creatine phosphokinase. Venous and arterial Doppler studies were negative for DVT and arterial thrombus. Further imaging with CT scan and then MRI revealed an irregular, enhancing space-occupying lesion of the left upper and mid-thigh. Subsequent muscle biopsy showed myonecrosis and proliferative myositis. Both findings are consistent with diabetic myonecrosis, which is a microvascular complication of long-standing poorly controlled DM. The patient was treated with analgesics, supportive care, and optimization of glycemic control. While short-term prognosis is good with adequate healing in a few weeks to several months, long-term prognosis is poor due to underlying extensive vascular disease. Although radiological findings are very suggestive of the diagnosis, most clinicians still need tissue biopsy to rule out other serious conditions such as infections and malignancy.
Critical points in the management of pseudohypoaldosteronism type 1
Authors: Tülay Güran, Serpil Değirmenci, İpek K Bulut, Aysun Say, Felix G Riepe, Ömer Güran
Journal: J Clin Res Pediatr Endocrinol (2011)
Keywords: pseudohypoaldosteronism type 1, pitfalls, treatment
MeSH terms: Pseudohypoaldosteronism / therapy, Case Reports, Cation Exchange Resins / administration & dosage, Epithelial Sodium Channels / genetics, Female, Fluid Therapy, Genes, Recessive, Humans, Infant, Newborn, Point Mutation, Potassium, Dietary / administration & dosage, Pseudohypoaldosteronism / diagnosis, Pseudohypoaldosteronism / genetics, Sodium Chloride, Dietary / administration & dosage, Water-Electrolyte Imbalance / therapy, Cation Exchange Resins, Epithelial Sodium Channels, Potassium, Dietary, SCNN1A protein, human, Sodium Chloride, Dietary

Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions.
Airway management: induced tension pneumoperitoneum
Authors: Khedher Ahmed, El Ghali Mohamed Amine, Azouzi Abdelbaki, Ayachi Jihene, Meddeb Khaoula, Hamdaoui Yamina, Boussarsar Mohamed
Journal: Pan Afr Med J (2016)
Keywords: non-surgical pneumoperitoneum, acute abdominal compartment syndrome, barotraumas
MeSH terms: Airway Management / adverse effects, Intra-Abdominal Hypertension / etiology, Pneumoperitoneum / etiology, Respiration, Artificial / adverse effects, Case Reports, Acute Disease, Aged, Airway Management / methods, Female, Humans, Laparotomy / methods, Pneumoperitoneum / complications, Pneumoperitoneum / surgery, Respiration, Artificial / methods

Pneumoperitoneum is not always associated with hollow viscus perforation. Such condition is called non-surgical or spontaneous pneumoperitoneum. Intrathoracic causes remain the most frequently reported mechanism inducing this potentially life threatening complication. This clinical condition is associated with therapeutic dilemma. We report a case of a massive isolated pneumoperitoneum causing acute abdominal hypertension syndrome, in a 75 year female, which occurred after difficult airway management and mechanical ventilation. Emergent laparotomy yielded to full recovery. The recognition of such cases for whom surgical management can be avoided is primordial to avoid unnecessary laparotomy and its associated morbidity particularly in the critically ill.
A Bezoar Composed of Bilirubin Calcium, Calcium Carbonate, and Fatty Acid Calcium
Authors: Masaya Iwamuro, Haruo Urata, Shoichiro Hirata, Toru Ueki, Tetsuro Hanabata, Sho Takeda, Akira Teraoka, Hiroyuki Okada
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

A 68-year-old Japanese man was diagnosed with bezoar in the stomach, which was endoscopically retrieved. The bezoar was composed of bilirubin calcium, calcium carbonate, and fatty acid calcium. Due to the presence of bilirubin calcium in the bezoar, we performed imaging studies of the bile duct; gallstones and common bile duct stones were identified. Although bezoar with components similar to bile is infrequently encountered, our findings suggest that a bezoar originating from bile should be considered among the differential diagnoses in patients without a recent consumption history of persimmons who demonstrate a mass in the digestive tract. This case highlights the importance of component analysis of gastric bezoars because its findings may alter the treatment plan.
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
Authors: Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck
Journal: Front Neurol (2021)
Keywords: kmt2b-related dystonia, case report, deep brain stimulation, dysarthria, globus pallidus internus, internal capsule
MeSH terms: Case Reports

Objective: KMT2B-related dystonia is a progressive childhood-onset movement disorder, evolving from lower-limb focal dystonia into generalized dystonia. With increasing age, children frequently show prominent laryngeal or facial dystonia manifesting in dysarthria. Bilateral deep brain stimulation of the globus pallidus internus (GPi-DBS) is reported to be an efficient therapeutic option. Especially improvement of dystonia and regaining of independent mobility is commonly described, but detailed information about the impact of GPi-DBS on dysarthria and speech is scarce. Methods: We report the 16-months outcome after bilateral GPi-DBS in an 8-year-old child with KMT2B-related dystonia caused by a de-novo c.3043C>T (p.Arg1015*) non-sense variant with special emphasis on dysarthria and speech. We compare the outcome of our patient with 59 patients identified through a PubMed literature search. Results: A remarkable improvement of voice, articulation, respiration and prosodic characteristics was seen 16 months after GPi-DBS. The patients' speech intelligibility improved. His speech became much more comprehensible not only for his parents, but also for others. Furthermore, his vocabulary and the possibility to express his feelings and wants expanded considerably. Conclusion: A positive outcome of GPi-DBS on speech and dysarthria is rarely described in the literature. This might be due to disease progression, non-effectiveness of DBS or due to inadvertent spreading of the electrical current to the corticobulbar tract causing stimulation induced dysarthria. This highlights the importance of optimal lead placement, the possibility of horizontal steering of the electrical field by applying directional stimulation with segmented leads as well as the use of the lowest possible effective stimulation intensity.
Successful Management of Pheochromocytoma Detected in Pregnancy by Interval Adrenalectomy in a VHL Patient
Authors: V T S Kaluarachchi, Uditha Bulugahapitiya, Maulee Arambewela, Sonali Gunathilake
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

A 34-year-old mother with diabetes mellitus for 6 years presented in the late second trimester of her third pregnancy with new onset hypertension and characteristic hyperadrenergic spells. Clinical examination was unremarkable except a blood pressure of 170/110 mmhg. She had an elevated 24 hour urinary normetanephrine level with ultrasonic evidence of a hyperechoic hypervascular well-defined right supra renal mass of 6 x 5 cm in size which was very suggestive of a pheochromocytoma. Her management decisions were made by a multidisciplinary team which decided to deliver the baby by lower segment cesarean section (LSCS) as the pregnancy was advanced and to proceed with interval adrenalectomy after contrast enhanced computer tomography (CECT) of the abdomen with adrenal protocol. As a result a healthy baby was delivered by an uncomplicated elective LSCS at 36 weeks of POA. CECT abdomen with adrenal protocol confirmed a right-sided pheochromocytoma without any evidence of metastasis. Uncomplicated laparoscopic right adrenalectomy led to a clinical and biochemical recovery of the patient while histology confirmed the pheochromocytoma without any evidence of invasion. Subsequent follow up revealed cerebellar hemangioblastomas and retinal angioma in the right eye which led to a clinical diagnosis of Von Hippel Lindau disease (VHL). Even though clinical criteria for Von Hippel Lindau disease were fulfilled, her VHL genetic test was negative. At present she and her family are under surveillance of the endocrine team.