OpenMed/multicare-articles huggingface dataset:
Re-Identification of Patient Subgroups in Uveal Melanoma
Authors: Thi Hai Yen Nguyen, Tin Nguyen, Quang-Huy Nguyen, Duc-Hau Le
Journal: Front Oncol (2021)
Keywords: biomolecular markers, clustering, molecular subtypes, multi-omics, uveal melanoma

Uveal melanoma (UM) is a comparatively rare cancer but requires serious consideration since patients with developing metastatic UM survive only for about 6-12 months. Fortunately, increasingly large multi-omics databases allow us to further understand cancer initiation and development. Moreover, previous studies have observed that associations between copy number aberrations (CNA) or methylation (MET) versus messenger RNA (mRNA) expression have affected these processes. From that, we decide to explore the effect of these associations on a case study of UM. Also, the current subtypes of UM display its weak association with biological phenotypes and its lack of therapy suggestions. Therefore, the re-identification of molecular subtypes is a pressing need. In this study, we recruit three omics profiles, including CNA, MET, and mRNA, in a UM cohort from The Cancer Genome Atlas (TCGA). Firstly, we identify two sets of genes, CNAexp and METexp, whose CNA and MET significantly correlated with their corresponding mRNA, respectively. Then, single and integrative analyses of the three data types are performed using the PINSPlus tool. As a result, we discover two novel integrative subgroups, IntSub1 and IntSub2, which could be a useful alternative classification for UM patients in the future. To further explore molecular events behind each subgroup, we identify their subgroup-specific genes computationally. Accordingly, the highest expressed genes among IntSub1-specific genes are mostly enriched with immune-related processes. On the other hand, IntSub2-specific genes are highly associated with cellular cation homeostasis, which responds effectively to chemotherapy using ion channel inhibitor drugs. In addition, we detect that the two integrative subgroups show different age-related risks and survival rates. These discoveries can influence the frequency of metastatic surveillance and support medical practitioners to choose an appropriate treatment regime.
Giant faecaloma-a rare cause of life-threatening lower gastrointestinal haemorrhage
Authors: Flavius Parvulescu, Tze Yuan Chan, Ufuk Gur, Richard Gregory McWilliams
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

Chronic constipation and faecal impaction are common in the elderly, particularly in institutionalized patients and those with neurological impairment. Faecaloma formation is an extreme manifestation of coprostasis that can lead to stercoral ulcerations and perforation, a recognized severe complication. We present the case of an uncommon life-threatening complication resulting from a giant rectal faecaloma, which has rarely been reported in the literature. The patient presented with haemodynamic shock from profuse per-rectum haemorrhage. Clinical examination revealed a hard central abdominal mass and triple-phase CT of the abdomen demonstrated a tumour-like mass of hard stool in the rectum measuring up to 25 cm and stretching the adjacent vasculature, causing intraluminal active arterial haemorrhage. Emergency selective arterial embolization performed by the interventional radiologists successfully controlled the bleeding with a good outcome. This case highlights a rare but possibly fatal complication of chronic constipation and emphasizes the importance of having access to an acute interventional radiology service capable of promptly dealingwith life-threatening presentations.
An Uncommon Cause of a Small-Bowel Obstruction
Authors: Ali Zakaria, Bayan Al Share, Issam Turk, Samira Ahsan, Waseem Farra
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas. Gastrointestinal (GI) system involvement that is clinically recognizable occurs in less than 0.9% of patients with sarcoidosis, with data revealing small intestine involvement in 0.03% of the cases. A high index of suspension is required in patients presenting with small-bowel obstruction and previous history of sarcoidosis. Establishing a definitive diagnosis of GI sarcoidosis depends on biopsy evidence of noncaseating granulomas, exclusion of other causes of granulomatous disease, and evidence of sarcoidosis in at least one other organ system. Treatment of GI sarcoidosis depends on symptomatology and disease activity. Herein, we are presenting a case of 67-year-old female patient who had acute small-bowel obstruction at the level of jejunum with postoperative histopathologic evidence of noncaseating granulomatous inflammation with multinucleated giant cells, consistent with sarcoidosis.
Challenges in the management of adenocarcinoma of ampulla of Vater in pregnancy: A case report and review of literature
Authors: Abdullah Saleh AlQattan, Feras Ahmed Alkuwaiti, Elham Saleh Alghusnah, Shoukat Ahmad Bojal, Mohammed Saad Alqahtani
Journal: Int J Surg Case Rep (2019)
Keywords: adenocarcinoma, ampulla of vater, jaundice, pancreaticoduodenectomy, pregnancy

Introduction:
Ampullary adenocarcinoma is a rare entity during pregnancy. It accounts for 0.5% of all gastrointestinal malignancies. The best treatment modality for resectable tumors with the best reported outcome is surgical resection in the form of pancreaticoduodenectomy (Whipple procedure). In this case report, we discuss the challenges in the management of ampullary adenocarcinoma in a pregnant patient.
Case presentation:
We report a case of 22 years old pregnant women who presented with vague abdominal pain and jaundice at the 28th week of gestation. Endoscopic retrograde cholangiopancreatography (ERCP) showed a stricture around the ampulla and distal common bile duct (CBD). The CBD was stented and a biopsy was taken. Histopathology revealed: an invasive adenocarcinoma. The patient was managed by elective pancreaticoduodenectomy after induction of vaginal delivery at the 34th week of gestation.
Conclusion:
Diagnosing and managing ampullary adenocarcinoma in pregnant patients in their 3rd trimester is challenging. Yet, a delayed viable delivery followed by a definitive surgery in the form of pancreaticoduodenectomy offers the best outcomes for both the mother & fetus in case of early stage disease.
A Case of Severe COVID-19 in a Patient with Acute Graft-versus-Host Disease after Haploidentical Transplantation
Authors: Dan Han, Yuqian Sun, Rong Xie, Xiaojian Zhu, Zhaodong Zhong
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

We report a case of coronavirus disease 2019 (COVID-19) after haploidentical transplantation with acute graft-versus-host disease (aGVHD). COVID-19 and aGVHD were improved under treatment with arbidol, remdesivir, methylprednisolone, and ruxolitinib. However, eventually, the patient died of septic shock and multiple organ failure. It was concluded that the disease condition of this COVID-19 patient after transplantation was serious, complex, and variable, with poor prognosis.
Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
Authors: Elise Riquin, Thomas Le Nerzé, Natwin Pasquini, Magalie Barth, Clément Prouteau, Estelle Colin, Patrizia Amati Bonneau, Vincent Procaccio, Patrick Van Bogaert, Philippe Duverger, Dominique Bonneau, Arnaud Roy
Journal: Front Psychiatry (2021)
Keywords: adolescent & youth, anxiety, child, depression, mitochondrial disorders, psychiatric symptom

Background: Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain. Cognitive impairment is a common feature in adults with MD and psychiatric symptoms are associated with MD in up to 70% of the adult population. The aim of this study is to describe the psychiatric profile in children and adolescents with MD by focusing on the description of psychiatric symptoms. Methods: A cohort of 12 children and adolescents was prospectively recruited between February 2019 and February 2020 in the Reference Center for Mitochondrial Disorders of Angers (France). Participants and their parents completed an anamnestic form to provide socio-demographic data and completed the Global Assessment of Functioning scale, the Brief Psychiatric Rating Scale, the Child Depression Inventory, the Revised Children's Manifest Anxiety Scale, and the Conner's Rating Scale to evaluate the inattention/hyperactivity symptoms as well as the Quality of Life scale. Results: Four children (33.3%) were diagnosed with depressive symptoms. With regarding to anxiety, 6 children (50%) reported anxiety issues during the psychiatric interview and 3 children (25%) were suffering from anxiety according to the RCMAS scale. Compared to other children with chronic illnesses, the individuals in our cohort reported a lower overall quality of life score and lower scores in physical and social subscales. Conclusion: Our study shows that MD can lead to psychiatric disorders in children and adolescents, in particular anxiety and depression, as well as poor quality of life. This highlights the need for regular psychiatric assessments in individuals with developing brains, such as children and adolescents. We do not, however, have data regarding the neuropsychological profile of this population.
Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery
Authors: Niklas S Hansen, Karoline S Dalgaard, Troels B Jensen
Journal: Case Rep Anesthesiol (2018)
MeSH terms: Case Reports

Pycnodysostosis is a rare congenital disorder with several implications, which might complicate anesthesia. Patients are more prone to fractures and have an anticipated difficult airway. We report a case of a 34-year-old woman with pycnodysostosis who underwent elective caesarean delivery under epidural blockade.
Rare and challenging tumor entity: phyllodes tumor of the prostate
Authors: Andreas Bannowsky, Andreas Probst, Helmut Dunker, Tillmann Loch
Journal: J Oncol (2009)
MeSH terms: Case Reports

Cystic epithelial-stromal tumors of the prostate are rare, with 82 cases reported in literature. These cases have been published under a variety of diagnoses, including phyllodes tumor and prostatic stromal proliferation of uncertain malignant potential as well as a malignant tumor called "prostatic stromal sarcoma". We report a case of a 60-year-old man with the histological diagnosis of phyllodes tumor of the prostate in transurethral resection specimen.
Selective Fiber Degeneration in the Peripheral Nerve of a Patient With Severe Complex Regional Pain Syndrome
Authors: Adrien Yvon, Alessandro Faroni, Adam J Reid, Vivien C Lees
Journal: Front Neurosci (2018)
Keywords: complex regional pain syndrome (crps), nerve histology, peripheral nerve, remak bundle, transmission electron microscopy
MeSH terms: Case Reports

Aims: Complex regional pain syndrome (CRPS) is characterized by chronic debilitating pain disproportional to the inciting event and accompanied by motor, sensory, and autonomic disturbances. The pathophysiology of CRPS remains elusive. An exceptional case of severe CRPS leading to forearm amputation provided the opportunity to examine nerve histopathological features of the peripheral nerves. Methods: A 35-year-old female developed CRPS secondary to low voltage electrical injury. The CRPS was refractory to medical therapy and led to functional loss of the forelimb, repeated cutaneous wound infections leading to hospitalization. Specifically, the patient had exhausted a targeted conservative pain management programme prior to forearm amputation. Radial, median, and ulnar nerve specimens were obtained from the amputated limb and analyzed by light and transmission electron microscopy (TEM). Results: All samples showed features of selective myelinated nerve fiber degeneration (47-58% of fibers) on electron microscopy. Degenerating myelinated fibers were significantly larger than healthy fibers (p < 0.05), and corresponded to the larger Aα fibers (motor/proprioception) whilst smaller Aδ (pain/temperature) fibers were spared. Groups of small unmyelinated C fibers (Remak bundles) also showed evidence of degeneration in all samples. Conclusions: We are the first to show large fiber degeneration in CRPS using TEM. Degeneration of Aα fibers may lead to an imbalance in nerve signaling, inappropriately triggering the smaller healthy Aδ fibers, which transmit pain and temperature. These findings suggest peripheral nerve degeneration may play a key role in CRPS. Improved knowledge of pathogenesis will help develop more targeted treatments.
Anterior subluxation after total hip replacement confirmed by radiographs: report of two cases
Authors: Conor P McGrory, Brian J McGrory
Journal: Adv Orthop (2011)
MeSH terms: Case Reports

Demonstrable anterior subluxation of the femoral head after a total hip arthroplasty is a rare complication and is usually transient. Both a case of recurrent subluxation and a case of chronic subluxation are described in this paper, each one presenting with unexpected femoral head eccentricity in the acetabulum on radiograph. We show how this unusual complication can be successfully identified and treated.
Lupus Pneumonitis Therapy Masks Coronavirus (COVID-19)
Authors: S Soloway, N L DePace, A M Soloway, J Colombo
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Introduction:
Coronavirus pneumonitis can mimic, or present as, lupus pneumonitis. Lupus may cause inflammation of the myocardium. Lupus pneumonitis high-dose steroid therapy may mask coronavirus (COVID-19). Case Study. The patient is a 65 y/o Hispanic female with lupus pneumonitis complicated by COVID-19. Her diagnosis was confirmed by a renal biopsy. She had nephritic and nephrotic syndrome. She was hospitalized a month earlier with shortness of breath with pulmonary infiltrates and was treated with steroids. The symptoms resolved quickly with shrinking consolidations and infiltrates. The patient returned to the office for shortness of breath with a presumptive diagnosis of recurrent lupus pneumonitis from steroid taper. The patient had a CT scan of the chest that revealed upper lobe interstitial and peripheral infiltrates. The radiologist felt that this was suspicious for coronavirus pneumonitis, and the patient was placed in isolation and continued therapy for lupus pneumonitis. She deteriorated, became hypoxic, and ventilated.
Conclusion:
All lupus pneumonitis patients, in fact all lupus patients in general (personal experience), on high-dose steroid therapy should be tested for COVID-19 to ensure proper diagnosis and therapy planning.
Primary hydatid cyst of the thyroid gland
Authors: Imen Azendour, Mohamed Boulaich, Ali Ayoubi, Abdelilah Oujilal, Leila Essakalli, Mohamed Kzadri
Journal: Int J Otolaryngol (2011)
MeSH terms: Case Reports

Primary hydatid cyst of thyroid gland is an exceptional localization even in Morocco where echinococcal disease is endemic. A 23-year-old woman presented with multiples cystic lesions of the thyroid revealed by neck mass and dyspnea. She underwent a subtotal thyroidectomy. The diagnosis of hydatid cyst was made preoperatively and was confirmed by histological studies. Further investigation failed to identify any other evidence of systemic hydatidosis. The patient has remained asymptomatic for 24 months after surgery. The possibility of hydatid disease, though rare, should be always kept in mind, for patients with cystic lesions of the thyroid, because a needle aspiration biopsy is a potentially harmful procedure.
Severe symptomatic acute hyponatremia in traumatic brain injury responded very rapidly to a single 15 mg dose of oral tolvaptan; a Mayo Clinic Health System hospital experience - need for caution with tolvaptan in younger patients with preserved renal function
Authors: Macaulay Amechi Chukwukadibia Onuigbo, Nneoma Agbasi
Journal: J Renal Inj Prev (2016)
Keywords: renal function, hyponatremia, subarachnoid hemorrhage, syndrome of inappropriate, tolvaptan, anti- diuretic hormone (siadh)
MeSH terms: Case Reports

Tolvaptan is now well established as a potent pharmaceutical agent for symptomatic hyponatremia from syndrome of inappropriate antidiuretic hormone secretion (SIADH), congestive heart failure and liver cirrhosis. Previous studies had recruited older (63-65 years) patients with mild renal impairment (serum creatinine, 1.3-1.4 mg/dl). A 2012 report in the Journal of Neurology, Neurosurgery & Psychiatry described tolvaptan as a "lifesaving drug". A major outcome concern in the treatment of chronic hyponatremia is potentially fatal pontine demyelination from over-rapid correction of serum sodium >0.5 mEq/dL/h. The maximum reported correction of serum sodium within 24 hours was 13 mEq/L in a case of SIADH. We recently experienced the dramatic correction of hyponatremia at 1 mEq/dL/h over 18 hours, following 15 mg of oral tolvaptan in a 32-year old male patient with normal kidney function (serum creatinine 0.76 mg/dL), following traumatic brain injury (TBI). Tolvaptan is indeed an effective and life-saving drug for post-TBI hyponatremia. However, we strongly recommend the use of lower doses of tolvaptan (≤15 mg/d) in younger patients with more preserved renal function to avoid the development of life-threatening pontine demyelination.
Ocular surface chemical injury treated by regenerating agent (RGTA, Cacicol20)
Authors: Melih Ustaoglu, Nilgun Solmaz, Feyza Onder
Journal: GMS Ophthalmol Cases (2017)
Keywords: cacicol20, rgta, chemical burns, ocular surface chemical injury, regenerating agents
MeSH terms: Case Reports

Objective: To present the successful outcome of regenerating agent (RGTA) treatment in a patient with severe ocular surface chemical injury. Methods: Case report Results: A 14-year-old female patient was admitted to our clinic following chemical burn in the left eye. Her best corrected visual acuity (BCVA) was 20/40; and she had total corneal and 75% conjunctival epithelial loss, corneal haze, and limbal ischemia for nine clock hours in the left eye. The patient had already received standard therapy consisting of patching, preservative-free artificial tears, topical netilmicin, topical dexamethasone, oral doxycycline, and vitamin C for two weeks. We initially cleaned the conjunctival necrotic tissues, applied the silicon hydrogel bandage contact lens, exchanged the topical netilmicin with preservative-free moxifloxacin and supplemented this therapy with RGTA (Cacicol20, Paris, France) once in two days. The BCVA of the patient improved to 20/20 and the ocular surface re-epithelization was completed on day 20. Conclusion: RGTAs are effective biological agents for the treatment of corneal epithelial defects following severe ocular surface chemical injuries.
Sytemic lupus erythematosus presenting with protein losing enteropathy in a resource limited centre: a case report
Authors: Eranda C Ratnayake, Ahamed Aa Riyaaz, Bandula C Wijesiriwardena
Journal: Int Arch Med (2012)

Introduction:
Systemic lupus erythematosus is a disease which may initially present with varying symptoms, most commonly a photosensitive rash and arthritis. Protein losing enteropathy is a recognized but rare presenting manifestation. Diagnosing protein losing enteropathy in resource limited centres is challenging but possible through the exclusion of other possible causes of hypoalbunaemia.
Case presentation:
We report a case of protein losing gastroenteropathy secondary to intestinal lymphangiectasia as the initial manifestation of systemic lupus erythematosus in a 57 year old Sri Lankan (South Asian) male patient. The diagnosis was made by the exclusion of other causes of hypoalbuminaemia as the gold standard investigations for protein losing enteropathy were not available at this centre.
Conclusions:
Protein losing enteropathy is a diagnosis of exclusion in resource limited centres in the world. Systemic lupus erythematosus should be considered in the differential diagnosis of protein losing enteropathy. Intestinal lymphangiectasia should also be recognized as a possible pathophysiological mechanism.
Right Trochlear Nerve Palsy as an Uncommon Manifestation of Arachnoid Cyst
Authors: Ruknesvary Subramaniam, Wan Hazabbah Wan Hitam, Khairy Shamel Sonny Teo, Chandran Nadarajan
Journal: Cureus (2023)
Keywords: 4th cranial nerve palsy, arachnoid cyst, diplopia, intraneural cyst, superior oblique muscle palsy
MeSH terms: Case Reports

The majority of arachnoid cysts are congenital intracranial lesions that develop in the early embryonic stages as a result of a slight irregularity in the cerebrospinal fluid's (CSF) passage through the embryonic mesenchyme. Most of the time, these cysts are asymptomatic all throughout life. Diplopia caused by an arachnoid cyst is extremely rare. We present a rare event of isolated fourth nerve palsy in a 56-year-old woman brought on by an intracranial arachnoid cyst. Her only presenting symptom was vertical diplopia for one week. She denied any history of trauma. Ocular motility revealed limitation of abduction in her right eye. We proceeded with neuroimaging and the magnetic resonance imaging (MRI) confirmed the presence of a well-circumscribed left retro-cerebellar lesion which follows the CSF signal intensity in all sequences causing compression onto the posterior aspect of the left cerebellum, keeping with the diagnosis of an arachnoid cyst. This uncommon pathology tends to be difficult to diagnose and treat.
Multisystemic sarcoidosis revealed by a Heerfordt syndrome: case report
Authors: Glad Smart Moussounda Mpika, Paulvon Phérol Koumeka, Lamyae Amro
Journal: Pan Afr Med J (2022)
Keywords: granulomatosis, anterior uveitis, case report, facial paralysis, parotiomegaly
MeSH terms: Facial Paralysis / etiology, Sarcoidosis / diagnosis, Uveitis / diagnosis, Uveitis / etiology, Uveoparotid Fever / diagnosis, Case Reports, Female, Humans, Middle Aged

Heerfordt syndrome is a rare clinical form of sarcoidosis with a favorable evolutionary profile in the majority of cases. In its classical form, it associates uveitis, parotidomegaly, facial paralysis and fever. We report a case of multisystemic sarcoidosis type II revealed by a Heerfordt syndrome in a 51-year-old female patient.
Surgical Clips Migration up to Renal Collecting System from Ileal Conduit Postcystectomy
Authors: Hani Albadawi, Tarik Emre Sener, Saeed Bin Hamri
Journal: J Endourol Case Rep (2016)
Keywords: cystectomy, flexible ureterorenoscopy, laser
MeSH terms: Case Reports

This is a 49-year-old female known to have had cystectomy and ileal conduit 4 years ago presented to our hospital complaining of left flank pain with recurrent urinary tract infection. Radiologic investigations showed left lower pole renal stone. She underwent left laser flexible ureterorenoscopy. Renal collection system was fully explored that showed stone occupying the lower calix, laser disintegration of the stone revealed what we assumed are surgical clips.
Combined Diagnosis of Systemic Lupus Erythematosus and Tuberculosis in an Irish Adolescent Female
Authors: Kene Ebuka Maduemem, Comfort O Adedokun, Adela Vatca
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is an autoimmune disease of unknown aetiology, which can affect any organ system. Tuberculosis (TB) is a common infection in SLE because of immune dysregulation associated with the latter. We report a case of an adolescent female who presented with a year's history of polyarticular arthralgia and fever. Physical examination revealed a large left effusion that needed drainage. Investigations revealed a combined diagnosis of SLE and TB. Management comprised quadruple anti-TB therapy and SLE treatment. She made a steady recovery and has maintained a stable state from the lupus perspective.