OpenMed/multicare-articles huggingface dataset:
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review
Authors: Nadan Gregoric, Urh Groselj, Natasa Bratina, Marusa Debeljak, Mojca Zerjav Tansek, Jasna Suput Omladic, Jernej Kovac, Tadej Battelino, Primoz Kotnik, Magdalena Avbelj Stefanija
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: pomc deficiency, adrenal insufficiency, obesity, proopiomelanocortin, setmelanotide, systematic review, type 1 diabetes
MeSH terms: Adrenal Insufficiency / genetics, Diabetes Mellitus, Type 1 / genetics, Obesity / genetics, Pro-Opiomelanocortin / deficiency, Pro-Opiomelanocortin / genetics, Skin Pigmentation / genetics, Case Reports, Research Support, Non-U.S. Gov't, Systematic Review, Adult, Child, Preschool, Female, Humans, Male, Pro-Opiomelanocortin

Proopiomelanocortin (POMC) deficiency is an extremely rare inherited autosomal recessive disorder characterized by severe obesity, adrenal insufficiency, skin hypopigmentation, and red hair. It is caused by pathogenic variants in the POMC gene that codes the proopiomelanocortin polypeptide which is cleaved to several peptides; the most notable ones are adrenocorticotropic hormone (ACTH), alpha- and beta-melanocyte-stimulating hormones (α-MSH and β-MSH); the latter two are crucial in melanogenesis and the energy balance by regulating feeding behavior and energy homeostasis through melanocortin receptor 4 (MC4R). The lack of its regulation leads to polyphagia and early onset severe obesity. A novel MC4R agonist, setmelanotide, has shown promising results regarding weight loss in patients with POMC deficiency. A systematic review on previously published clinical and genetic characteristics of patients with POMC deficiency and additional data obtained from two unrelated patients in our care was performed. A 25-year-old male patient, partly previously reported, was remarkable for childhood developed type 1 diabetes (T1D), transient growth hormone deficiency, and delayed puberty. The second case is a girl with an unusual presentation with central hypothyroidism and normal pigmentation of skin and hair. Of all evaluated cases, only 50% of patients had characteristic red hair, fair skin, and eye phenotype. Central hypothyroidism was reported in 36% of patients; furthermore, scarce adolescent data indicate possible growth axis dysbalance and central hypogonadism. T1D was unexpectedly prevalent in POMC deficiency, reported in 14% of patients, which could be an underestimation. POMC deficiency reveals to be a syndrome with several endocrinological abnormalities, some of which may become apparent with time. Apart from timely diagnosis, careful clinical follow-up of patients through childhood and adolescence for possible additional disease manifestations is warranted.
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
Authors: Fábio Barroso, Joana Correia, Anabela Bandeira, Carla Carmona, Laura Vilarinho, Manuela Almeida, Júlio César Rocha, Esmeralda Martins
Journal: Rev Paul Pediatr (2020)
MeSH terms: Attention Deficit Disorder with Hyperactivity / etiology, Tyrosinemias / diagnosis, Case Reports, Review, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Siblings, Tyrosinemias / complications, Tyrosinemias / therapy

Objective:
Tyrosinemia type III (HT III) is the rarest form of tyrosinemia, and the full clinical spectrum of this disorder is still unknown. The neurological involvement varies, including intellectual impairment and attention deficit disorder with hyperactivity (ADHD). We report the case of two siblings diagnosed with HT III at different ages.
Case description:
The index case was diagnosed by newborn screening for endocrine and metabolic disorders, starting a low-protein diet immediately, with a consistent decrease in tyrosine levels. By the age of three, the child displayed a hyperactive behavior, starting treatment for ADHD two years later. At seven years of age, he shows a slight improvement in terms of behavior and attention span and has a cognitive performance slightly lower than his peers, despite maintaining acceptable tyrosine levels. His sister, who had a history of ADHD since age five, was diagnosed with HT III after family screening at the age of eight. Despite initiating a dietetic treatment, her behavior did not improve, and she has a mild intellectual impairment.
Comments:
This is the first case report describing siblings with HT III who underwent nutritional treatment with a low-protein diet in different phases of life, with a better neurological and behavioral evaluation in the patient who started treatment earlier.
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing
Authors: Brandon S Sheffield, Anna V Tinker, Yaoqing Shen, Harry Hwang, Hector H Li-Chang, Erin Pleasance, Carolyn Ch'ng, Amy Lum, Julie Lorette, Yarrow J McConnell, Sophie Sun, Steven J M Jones, Allen M Gown, David G Huntsman, David F Schaeffer, Andrew Churg, Stephen Yip, Janessa Laskin, Marco A Marra
Journal: PLoS One (2015)
MeSH terms: Cyclin-Dependent Kinase Inhibitor p16 / genetics, Genes, Neurofibromatosis 2, Genome, Human, High-Throughput Nucleotide Sequencing / methods, Mesothelioma / genetics, Peritoneal Neoplasms / genetics, Protein Serine-Threonine Kinases / genetics, Tumor Suppressor Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Biomarkers, Tumor / genetics, Female, Genome-Wide Association Study, Humans, Middle Aged, Precision Medicine, Prognosis, Biomarkers, Tumor, Cyclin-Dependent Kinase Inhibitor p16, Tumor Suppressor Proteins, LATS2 protein, human, Protein Serine-Threonine Kinases

Peritoneal mesothelioma is a rare and sometimes lethal malignancy that presents a clinical challenge for both diagnosis and management. Recent studies have led to a better understanding of the molecular biology of peritoneal mesothelioma. Translation of the emerging data into better treatments and outcome is needed. From two patients with peritoneal mesothelioma, we derived whole genome sequences, RNA expression profiles, and targeted deep sequencing data. Molecular data were made available for translation into a clinical treatment plan. Treatment responses and outcomes were later examined in the context of molecular findings. Molecular studies presented here provide the first reported whole genome sequences of peritoneal mesothelioma. Mutations in known mesothelioma-related genes NF2, CDKN2A, LATS2, amongst others, were identified. Activation of MET-related signaling pathways was demonstrated in both cases. A hypermutated phenotype was observed in one case (434 vs. 18 single nucleotide variants) and was associated with a favourable outcome despite sarcomatoid histology and multifocal disease. This study represents the first report of whole genome analyses of peritoneal mesothelioma, a key step in the understanding and treatment of this disease.
Herpes Simplex Virus Hepatitis in an Immunocompetent Adult: A Fatal Outcome due to Liver Failure
Authors: Rachel A Poley, Jaime F Snowdon, Daniel W Howes
Journal: Case Rep Crit Care (2011)
MeSH terms: Case Reports

Objective. To present a case of a healthy 41-year-old female who developed fulminant hepatic failure leading to death. The cause of hepatic failure identified on postmortem exam was herpes simplex virus hepatitis. Design. Observation of a single patient. Setting. Intensive care unit of a tertiary care university teaching hospital in Canada. Patient. 41-year-old previously healthy female presenting with a nonspecific viral illness and systemic inflammatory response syndrome. Intervention. The patient was treated with intravenous fluids and broad-spectrum antibiotics. On the second day of admission, she was found to have elevated transaminases, and, over 48 hours, she progressed to fulminant liver failure with disseminated intravascular coagulopathy, refractory lactic acidosis, and shock. She progressed to respiratory failure requiring intubation and mechanical ventilation. She was started on N-acetylcysteine, a bicarbonate infusion, hemodialysis, and multiple vasopressors and inotropes. Measurements and Main Results. Despite treatment, the patient died roughly 70 hours after her initial presentation to hospital. Her postmortem liver biopsy revealed herpes simplex virus hepatitis as her cause of death. Conclusions. Herpes simplex virus must be considered in all patients presenting with liver failure of unknown cause. If suspected, prompt treatment with acyclovir should be initiated.
Invasive liver abscess syndrome caused by Klebsiella pneumoniae: first Tanzanian experience
Authors: Nadeem Mehboob Kassam, Omar Mohamed Aziz, Samina Sadrudin Somji, Zainab Yusuf Fidaali, Salim Ramzan Surani
Journal: Pan Afr Med J (2020)
Keywords: hepatic abscess, klebsiella pneumoniae, invasive syndrome
MeSH terms: Klebsiella Infections / diagnosis, Klebsiella pneumoniae / isolation & purification, Liver Abscess / diagnosis, Case Reports, Humans, Klebsiella Infections / microbiology, Liver Abscess / microbiology, Male, Middle Aged, Syndrome, Tanzania

Over the past 20 years there has been growing awareness of community-acquired primary liver abscess caused by strains of Klebsiella pneumoniae (K. pneumoniae) especially in patients of Asian descent, a minority of which are characterized by metastatic spread. A common and frequent destructive complication is endophthalmitis as well as the involvement of the central nervous system (CNS), causing suppurative meningitis or brain abscess. Here we report a case of invasive liver abscess caused by K. pneumoniae in an Asian patient who presented to our hospital in Tanzania with bilateral lower limb swelling for 6 weeks with acute onset of difficulty in breathing.
Hemodynamic Support Using Percutaneous Transfemoral Impella 5.0 and Impella RP for Refractory Cardiogenic Shock
Authors: Pratik K Dalal, Amy Mertens, Dinesh Shah, Ivan Hanson
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Acute myocardial infarction (AMI) resulting in cardiogenic shock continues to be a substantial source of morbidity and mortality despite advances in recognition and treatment. Prior to the advent of percutaneous and more durable left ventricular support devices, prompt revascularization with the addition of vasopressors and inotropes were the standard of care in the management of this critical population. Recent published studies have shown that in addition to prompt revascularization, unloading of the left ventricle with the placement of the Impella percutaneous axillary flow pump can lead to improvement in mortality. Parameters such as the cardiac power output (CPO) and pulmonary artery pulsatility index (PAPi), obtained through pulmonary artery catheterization, can help ascertain the productivity of right and left ventricular function. Utilization of these parameters can provide the information necessary to escalate support to the right ventricle with the insertion of an Impella RP or the left ventricle with the insertion of larger devices, which provide more forward flow. Herein, we present a case of AMI complicated by cardiogenic shock resulting in biventricular failure treated with the percutaneous insertion of an Impella RP and Impella 5.0 utilizing invasive markers of left and right ventricular function to guide the management and escalation of care.
Posttraumatic pedal artery pseudoaneurysm: a case report
Authors: Cristián Arriagada Irarrazaval, Ricardo Sonneborn Gross, Alexandre Sauré Maritano, Carolina Soto Diez
Journal: Case Rep Vasc Med (2012)
MeSH terms: Case Reports

Pseudoaneurysm of the pedal artery is usually caused by traumatic or iatrogenic events. Diagnosis is suspected by palpation of a pulsatile mass and detection of an associated systolic bruit. Confirmation is made by Doppler US. Angiography can demonstrate the presence of collateral circulation and assure distal vascular flow. We present the case of a 49-year-old man who presents 3 months after a traumatic contusion of his left foot with a pulsatile mass. A color Doppler ultrasound confirms a pseudoaneurysm of the pedal artery. The patient underwent surgical resection of the mass and suture ligation of the artery with full recovery and no ischemic complications.
Persistent Atrial Septum Defect Despite Placement of Two Amplatzer Septal Occluders
Authors: Kay B Leissner, Jahan Porhomayon, Nader D Nader
Journal: J Cardiovasc Thorac Res (2015)
Keywords: amplatzer, atrial septal defect, percutaneous occluders
MeSH terms: Case Reports

Herein, we are presenting a case of persistent interatrial septal defect diagnosed during coronary artery bypass grafting (CABG). Twice, attempts had been made to close this shunt using amplatzer septal occlude. However, percutaneous technique had failed in both occasions. The patient presented with chest pain 4 years after the second attempt and required urgent CABG. Persistent shunt was repaired during surgery.
Characteristics of Developmental and Healing Process of Docetaxel-Induced Lower Limb Edema in Patients with Stage IV Breast Cancer: A Case Series
Authors: Yuko Imakata, Junko Sugama, Sayumi Ichihashi, Fumiya Oohashi, Masato Kobayashi, Makoto Oe
Journal: Palliat Med Rep (2023)
Keywords: chemotherapy, compression therapy, docetaxel, initial finding, severe edema, ultrasonography
MeSH terms: Case Reports

Background:
Management of docetaxel-induced edema is important as severe edema may lead to discontinuation of chemotherapy. Patients with stage IV breast cancer (BC) treated with docetaxel have shown lower limb edema; however, details of its developmental and healing processes are unknown, and thus management strategies have not been established. The aim of this study was to investigate the characteristics of the development and healing process of docetaxel-induced lower limb edema in stage IV BC patients.
Methods:
This prospective observational study was conducted on patients with BC who were administered docetaxel between September 2020 and September 2021 at a National Hospital in Japan. Skin changes such as pitting test, circumference, along with ultrasound images and subjective symptom changes were evaluated. The progression of these changes was compared between patients with stage IV and non-stage IV disease.
Results:
Five patients were enrolled in the study, of which two and one patients with stage IV and non-stage IV disease, respectively, developed lower limb edema. Early signs of lower limb edema were observed in ultrasound images, 15 cm below the peroneal head, before edema was confirmed by the pitting test and subjective symptoms. In patients with stage IV disease, edema worsened to Grade 3, and reduced four months after the end of drug administration.
Conclusion:
For patients with stage IV disease, care should be initiated from the time the early signs are observed using ultrasound and continued for up to four months after the end of docetaxel administration.
Case Report: Analysis of Inflammatory Cytokines IL-6, CCL2/MCP1, CCL5/RANTES, CXCL9/MIG, and CXCL10/IP10 in a Cystic Fibrosis Patient Cohort During the First Wave of the COVID-19 Pandemic
Authors: Giulia Baresi, Mauro Giacomelli, Daniele Moratto, Marco Chiarini, Immacolata Claudia Conforti, Rita Padoan, Piercarlo Poli, Silviana Timpano, Francesca Caldarale, Raffaele Badolato
Journal: Front Pediatr (2021)
Keywords: sars-cov-2 infection, t cell activation, cystic fibrosis, cytokines, inflammatory activation
MeSH terms: Case Reports

Since the beginning of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, data registered in the European countries revealed increasing cases of infection in cystic fibrosis (CF) patients. In the course of this pandemic, we enrolled 17 CF patients for a study evaluating inflammatory markers. One of them developed COVID-19, giving us the possibility to analyze inflammatory markers in the acute phase as compared to levels detected before and after the infectious episode and to levels measured in the other CF patients enrolled to the study who did not experience COVID-19 and 23 patients referred to our center for SARS-CoV-2 infection.
TMJ Ankylosis: Multidisciplinary Approach of Treatment for Dentofacial Enhancement-A Case Report
Authors: Pavankumar Janardan Vibhute, Nitin Bhola, Rajiv M Borle
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

This report describes the multidisciplinary phasewise treatment of a 20-year-old female patient having unilateral right TMJ bony (true) ankylosis whose mouth opening was restricted to 2 mm and mandibular retrognathism; additionally, she was also suffering from speech problems, snoring, difficulty in breathing, and low level of self-esteem and self-confidence. Bilateral gap arthroplasty and temporalis myofascial graft interpositioning through preauricular approach were done in surgical phase followed by the aggressive jaw physiotherapy in postsurgical period. Oral prophylaxis and restorations were followed by the fixed orthodontic therapy to resolve bimaxillary protrusion. Advancement sliding genioplasty was performed to enhance the chin button. Speech therapy and psychological counseling were also performed from time to time to boost up the self-esteem and self-confidence. At the end of treatment, facial esthetics was improved considerably and patient got over the impact of disfigurement, impaired functions, and psychosocial stigma. Rationale to use the multidisciplinary team approach in treatment of such cases is discussed.
Fluid overload-associated large B-cell lymphoma with primary biliary cirrhosis: A case report
Authors: Huan Wang, Quan Zhang, Qin Liu, Xian Wu, Ke Ma
Journal: Front Oncol (2023)
Keywords: pet/ct, ascites, bone marrow biopsy, case, fluid overload–associated large b-cell lymphoma, lymphoma, primary biliary cirrhosis
MeSH terms: Case Reports

The 5th edition of World Health Organization Classification of Haematolymphoid Tumours (WHO-HAEM5) is characterized by its hierarchical system for classification and novel entities/types. Considering the significant discrepancy in clinical manifestations and prognosis, fluid overload-associated large B-cell lymphoma (FOALBCL) has been a new addition to the WHO-HAEM5, being distinct from the traditional diagnosis of primary effusion lymphoma. In this manuscript, we report a patient who was diagnosed with FOALBCL that a novel entity introduced in the WHO-HAEM5. It is an instance of a successful application of the updated WHO-HAEM5 and indicates that the 'Blue Book' could confer convenience and benefits on both patients and clinicians. Moreover, the patient combined primary biliary cirrhosis (PBC), which is a relatively rare condition compared to the underlying medical condition of viral cirrhosis. Due to atypical clinical symptoms and invasive biopsy of lymphoma, sometimes, diagnoses might be undesired, which eventually leads to a poor prognosis. With this case report, it reminds not just hematologists but also other specialists to pay attention to the updates and revisions of the classifications of lymphoma.
A Woman with Asthma and Peripheral Ground-Glass Opacities
Authors: Chia-Yu Chiu, Michael David, Aya Musa, Mohmed Gora, Manmeet Kaur Gujral
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

Eosinophilic lung disease is a heterogeneous group of disorders that reveal eosinophil involved lung tissue often in patients with asthma or atopy. Classification and diagnostic criteria of eosinophilic lung disease are not well-established; however, peripheral ground-glass opacity is typical on chest computed tomography. Another etiology of this same radiographic finding reported in the literature is silicone embolism syndrome. Here, we present a 43-year-old female with poorly controlled severe persistent asthma presenting with difficulty breathing. Computed tomography showed peripherally dominant ground-glass opacity. Peripheral blood, bronchoalveolar lavage fluid analysis, and transbronchial biopsy did not find eosinophilia. Serial bronchoalveolar lavage of the demonstrated increasingly blood-tinged fluid. The patient required mechanical ventilation upon admission. After further questioning the patient revealed that she had frequently received injectable cosmetics at non-licensed establishments. Initially, due to past medical history, presentation, and radiographic findings, eosinophilic pneumonia was suspected. However, after a review of the patient's social history and risk factors, silicone embolisms syndrome became a likely diagnosis. The patient had good clinical response to high dose steroid therapy.
Middle Ear Teratoma: Clinical and Imaging Features
Authors: Jun-Hua Liu, Wen-Hu Huang, Yin Liu, Fang Zhang, Yan Sha
Journal: Curr Med Imaging (2023)
Keywords: teratoma, x-ray computed, eustachian tube, magnetic resonance imaging, middle ear, tomography
MeSH terms: Ear Neoplasms / diagnostic imaging, Ear Neoplasms / surgery, Teratoma / diagnostic imaging, Teratoma / pathology, Teratoma / surgery, Case Reports, Ear, Middle / diagnostic imaging, Ear, Middle / pathology, Female, Humans, Magnetic Resonance Imaging, Retrospective Studies

Background:
Teratoma is a true neoplasm composed of a number of different types of tissue derived from the three germinal layers but rarely occurs in the middle ear (ME). The features of middle ear teratomas (MET) have not been well described.
Objective:
The objective of this study is to explore the clinical and imaging features of MET, and report 2 rare cases of MET with ear malformation that have never been reported.
Materials and methods:
The clinical, CT and MRI data of 8 patients with a pathological diagnosis of MET were collected and retrospectively mined, and 14 patients with MET reported in previous literature were also reviewed.
Results:
① Female, left ear predominance in MET, and the most common symptoms were otorrhea and hearing loss. ② On CT and MRI, the MET presented as an irregular soft tissue mass that was heterogeneous, with fatty tissue and involved multiple sites, and the ET and tympanum were correspondingly expanded and locally destroyed. ③ Mictotia with MET in two patients was presented, which was the first report.
Conclusion:
MET has female sex and left ear predominance. CT and MRI can be used to diagnose MET and display its extent and its relationship to the carotid canal in detail. Complete surgical excision is the definitive treatment.