OpenMed/multicare-articles huggingface dataset:
Gallbladder agenesis in the elderly: a diagnostic challenge
Authors: Imen Ben Ismail, Saber Rebii, Hakim Zenaidi, Ayoub Zoghlami
Journal: Pan Afr Med J (2020)
Keywords: gallbladder agenesis, case report, magnetic resonance cholangiopancreatography, ultrasound
MeSH terms: Cholangiopancreatography, Magnetic Resonance, Congenital Abnormalities / diagnostic imaging, Gallbladder / abnormalities, Case Reports, Aged, Gallbladder / diagnostic imaging, Humans, Incidental Findings, Male, Gallbladder, Agenesis Of

Gallbladder agenesis (GA) is a rare congenital malformation characterized by the absence of the gallbladder and cystic duct due to an anomaly in the embryonic development. It is commonly associated with other congenital abnormalities, and the isolated form is extremely rare. Its clinical presentation is variable. Actually, GA is more often incidentally diagnosed. Magnetic resonance cholangiopancreatography (MRCP) is considered to be the diagnosis method of choice since it avoids unnecessary and risky surgery in symptomatic patients. Here we report the case of a radiologically incidentally discovered gallbladder agenesis in a 68-year-old patient.
Staphylococcus simulans: A rare uropathogen
Authors: Ana Drobeniuc, Jessica Traenkner, Paulina A Rebolledo, Varduhi Ghazaryan, Nadine Rouphael
Journal: IDCases (2021)
Keywords: complicated urinary tract infections, staphylococcus simulans, zoonoses
MeSH terms: Case Reports

Urinary tract infections (UTIs) are clinically and economically burdensome. Gram positive causative uropathogens are rare, and Staphylococcus simulans has infrequently been isolated as a causative agent for UTIs. Here, we present two cases of S. simulans causing complicated urinary tract infections.
Continuous Thoracic Sympathetic Ganglion Block in Complex Regional Pain Syndrome Patients with Spinal Cord Stimulation Implantation
Authors: EungDon Kim, MiSun Roh, SooHyang Kim, DaeHyun Jo
Journal: Pain Res Manag (2016)
MeSH terms: Autonomic Nerve Block / methods, Complex Regional Pain Syndromes / therapy, Electrodes, Implanted, Ganglia, Sympathetic / physiology, Spinal Cord Stimulation / methods, Case Reports, Cation Transport Proteins, Complex Regional Pain Syndromes / diagnostic imaging, Female, Fluoroscopy, Humans, Male, Middle Aged, Cation Transport Proteins, MagT1 protein, human

The sympathetic block is widely used for treating neuropathic pain such as complex regional pain syndrome (CRPS). However, single sympathetic block often provides only short-term effect. Moreover, frequent procedures for sympathetic block may increase the risk of complications. The use of epidural route may be limited by concern of infection in case of previous implantation of the spinal cord stimulation (SCS). In contrast, a continuous sympathetic block can be administered without such concerns. The continuous thoracic sympathetic block (TSGB) has been used to treat the ischemic disease and other neuropathic conditions such as postherpetic neuralgia. We administered continuous thoracic sympathetic block using catheter in CRPS patients who underwent SCS implantations and achieved desirable outcomes. We believe a continuous sympathetic block is a considerable option before performing neurolysis or radiofrequency rhizotomy and even after SCS implantation.
Repair of Proximal Hamstring Tear Utilizing a Suture Bridge Knotless Construct
Authors: Brent Sanderson, Kyle Stumetz, Reza Jazayeri
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Proximal hamstring tendon injuries occur frequently in the athletic population resulting in varying degrees of functional disability depending on severity of injury. The purpose of our case vignette is to describe a surgical technique and clinical outcome for open proximal hamstring tendon repair with a confirmed biomechanically sound construct. We also describe and summarize the current literature recommendations for proximal hamstring injuries. We present a case and surgical technique report on a 27-year-old male who suffered a proximal hamstring tendon rupture. Utilizing a double row all-knotless suture bridge construct with a total of four anchors and six suture limbs allowed for anatomic footprint coverage and strength. Two years of clinical follow-up was obtained evaluating hip and knee range of motion, strength, and functional ability. Our patient underwent uncomplicated open surgical repair and returned to all activity at four months following surgery. Range of motion and strength returned to preoperative levels at the four-month postoperative mark. The use of a reproducible double row all-knotless suture bridge technique provided adequate strength and stability in the setting of a proximal hamstring tendon rupture. Open and endoscopic surgical techniques performed acutely both show positive postoperative subjective outcomes as well as a high likelihood of returning to sport. Controversy remains present in regard to the repair technique as well as postoperative bracing and physical therapy recommendations.
Drug-resistant genotypes and multi-clonality in Plasmodium falciparum analysed by direct genome sequencing from peripheral blood of malaria patients
Authors: Timothy Robinson, Susana G Campino, Sarah Auburn, Samuel A Assefa, Spencer D Polley, Magnus Manske, Bronwyn MacInnis, Kirk A Rockett, Gareth L Maslen, Mandy Sanders, Michael A Quail, Peter L Chiodini, Dominic P Kwiatkowski, Taane G Clark, Colin J Sutherland
Journal: PLoS One (2011)
MeSH terms: Drug Resistance / genetics, Genome / genetics, Malaria / blood, Malaria / parasitology, Plasmodium falciparum / genetics, Sequence Analysis, DNA / methods, Case Reports, Research Support, Non-U.S. Gov't, Adult, Antigens, Protozoan / genetics, Base Sequence, Chromosomes, Clone Cells, Gene Dosage / genetics, Genes, Protozoan / genetics, Genetic Loci / genetics, Genome, Mitochondrial / genetics, Haplotypes / genetics, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Molecular Sequence Data, Polymorphism, Single Nucleotide / genetics, Protozoan Proteins / genetics, Sequence Deletion / genetics, Antigens, Protozoan, Protozoan Proteins, merozoite surface protein 2, Plasmodium

Naturally acquired blood-stage infections of the malaria parasite Plasmodium falciparum typically harbour multiple haploid clones. The apparent number of clones observed in any single infection depends on the diversity of the polymorphic markers used for the analysis, and the relative abundance of rare clones, which frequently fail to be detected among PCR products derived from numerically dominant clones. However, minority clones are of clinical interest as they may harbour genes conferring drug resistance, leading to enhanced survival after treatment and the possibility of subsequent therapeutic failure. We deployed new generation sequencing to derive genome data for five non-propagated parasite isolates taken directly from 4 different patients treated for clinical malaria in a UK hospital. Analysis of depth of coverage and length of sequence intervals between paired reads identified both previously described and novel gene deletions and amplifications. Full-length sequence data was extracted for 6 loci considered to be under selection by antimalarial drugs, and both known and previously unknown amino acid substitutions were identified. Full mitochondrial genomes were extracted from the sequencing data for each isolate, and these are compared against a panel of polymorphic sites derived from published or unpublished but publicly available data. Finally, genome-wide analysis of clone multiplicity was performed, and the number of infecting parasite clones estimated for each isolate. Each patient harboured at least 3 clones of P. falciparum by this analysis, consistent with results obtained with conventional PCR analysis of polymorphic merozoite antigen loci. We conclude that genome sequencing of peripheral blood P. falciparum taken directly from malaria patients provides high quality data useful for drug resistance studies, genomic structural analyses and population genetics, and also robustly represents clonal multiplicity.
Pancreatoduodenectomy in patient with perforated duodenal diverticulum and peritonitis: Case report
Authors: Justus Philip, Andrei Cocieru
Journal: Int J Surg Case Rep (2019)
Keywords: duodenal diverticulum, pancreatoduodenectoomy, perforation

Introduction:
Duodenal diverticula are quite prevalent in general population, seen on up to 5% of radiology studies and up to 22% of autopsy examinations.
Presentation of the case:
70 years old female was admitted to the hospital with epigastric pain, fevers and elevated white cell count. Abdominal CT scan demonstrated evidence of perforated duodenal diverticulitis which failed to improve with IV antibiotics. Emergent pancreatoduodenectomy was performed with full recovery and uncomplicated hospital stay.
Discussions:
Conservative therapy with antibiotics and bowel rest is successful in majority cases of perforation. Failure of conservative therapy demands surgical management. Variety of surgical approaches ranging from simple diverticulectomy to segmental resection, duodenal exclusion/bypass to pancreatoduodenectomy are available.
Conclusion:
Pancreatoduodenectomy is an option when complicated duodenal diverticulum is not resolved with conservative or interventional therapy.Pancreatoduodenectomy is an option when complicated duodenal diverticulum is not resolved with conservative or interventional therapy. This report has been written in concordance with the SCARE criteria Agha et al. [1].
Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess
Authors: Ranjit Narayanan, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Vishal Dixit, Vinod Scaria, Sridhar Sivasubbu
Journal: F1000Res (2016)
Keywords: mineralocorticoid excess, whole exome sequencing

Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially in rare genetic disorders. Here we demonstrate the use of whole exome sequencing (WES) for accurate diagnosis of rare SME and report that p.R337C variation in the HSD11B2 gene causes progressive apparent mineralocorticoid excess (AME) syndrome in a South Indian family of Mappila origin.
Case report and review: Angiosarcoma with thrombocytopenia after total hip arthroplasty
Authors: Noora Skants, Mikko Rönty, Olli Komulainen, Miikka Keski-Keturi, Kaisa Huotari, Maria Alander-Pekkarinen, Marjut Sihvo, Minna Laitinen, Rita Linko
Journal: Front Surg (2023)
Keywords: angiosarcoma, endoprosthesis, pseudotumor, thrombocytopenia, total hip arthroplasty
MeSH terms: Case Reports

Total hip arthroplasty (THA) is a common treatment for osteoarthritis and is also performed for other conditions, such as secondary arthritis due to developmental dysplasia of the hip. Various THA types may be complicated by osteolysis and an inflammatory pseudotumor due to an adverse reaction to metal debris. Rarely, THA has been associated with malignant tumors, but their causality remains unclear. In this case report, we describe a female patient with developmental dysplasia of the hip. She had undergone left metal-on-polyethylene THA, acetabular revision of the THA, and left total knee arthroplasty. In addition, she had a history of dyslipidemia and telangiectasia of the eyes, anemia, hiatal hernia, and pleuritis. A THA-associated mass (suspected to be a pseudotumor) had been detected during a previous hospital admission due to pleuritis. She was hospitalized due to swelling in her left lower limb, fatigue, and bruises. A clinical examination revealed anemia, thrombocytopenia, and growth of the suspected pseudotumor. Within 6 weeks, she presented with bleeding of the oral mucosa, hemoptysis, melena, severe thrombocytopenia that did not respond to treatment, elevated D-dimer and C-reactive protein levels, severe pain, increased osteolysis, and fractures around the THA. Infection or malignancy was suspected, but two trocar biopsies suggested an inflammatory pseudotumor. Since her anemia and thrombocytopenia were considered to have been caused by an inflammatory process within the suspected pseudotumor, her suspected pseudotumor and all THA components were surgically removed. However, she developed severe alveolar hemorrhaging and hypoxia and died 2 weeks after her surgery. Histopathological analysis of her surgical and autopsy samples revealed highly malignant angiosarcoma. Although individual cases of malignancies associated with THA have been reported, the literature lacks a clear association between THA and increased cancer risk. Most pseudotumors are non-malignant. The patient's case presented in this report exemplifies the challenges to the differential diagnosis of a THA-associated pseudotumor and rare angiosarcoma. Atypically rapid tumor growth, severe osteolysis, and deterioration in the general wellbeing suggest a malignant disease.
Does Etelcalcetide reverse myelofibrotic bone changes due to hyperparathyroidism? A case report
Authors: Vincenzo Antonio Panuccio, Rocco Tripepi, Adele Postorino, Bruna Greve, Elena Sabattini, Esther Natalie Oliva
Journal: Front Med (Lausanne) (2023)
Keywords: etelcalcetide, bone change, dialysis (eskd), hyperparatiroidism, myelofibrosis
MeSH terms: Case Reports

Secondary hyperparathyroidism (SHPT) in dialysis is common. A young man on chronic hemodialysis with SHPT developed pancytopenia with resistant anemia requiring transfusions. A bone marrow biopsy showed grade 3 fibrosis, depleted cellularity, osteosclerosis, and decreased myelopoiesis. He initiated Etelcalcetide 7⋅5 mg 3 times weekly with improvement in SHPT concomitant with near normalization of blood counts. Marrow biopsy at 12 months showed clearance of marrow reticulin, improvement of osteosclerosis and normalization of bone trabeculae, cellularity and myelopoiesis. This is a unique case in which Etelcalcetide treatment is comparable to parathyroidectomy on SHPT and is associated with significant improvement in severe myelofibrosis.
Iatrogenic watering-can perineum and osteomyelitis of pubic ramus as a complication of post-urethral calculus removal UTI
Authors: Kewal Arunkumar Mistry, Rohit Bhoil, Pokhraj Prakashchandra Suthar, Anurag Shukla
Journal: BJR Case Rep (2015)
MeSH terms: Case Reports

We present a case of a 55-year-old male with a history of urethroscopic calculus removal who later developed urinary tract infection (UTI), complicated by periurethral abscess formation with osteomyelitis of the inferior pubic ramus and a urethrocutaneous fistula after surgical drainage of the abscess. UTI with periurethral abscess and urethrocutaneous fistula (watering-can perineum) is a rare complication of UTI. A periurethral abscess with pubic osteomyelitis has not been previously reported.
Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon
Authors: Sabiq Dipro, Faisal Al-Otaibi, Adel Alzahrani, Anwar Ulhaq, Essam Al Shail
Journal: Case Rep Oncol Med (2012)

Turcot syndrome (TS) is a rare hereditary disorder clinically characterized by the occurrence of primary tumors of the colon and the central nervous system (CNS). Here we present the case of an 11-year-old boy with a synchronous clinical presentation of both glioblastoma multiforme (GBM) and colonic adenocarcinoma. A molecular genetic study revealed microsatellite instability in the DNA mismatch repair (MMR) gene. This patient ultimately survived for 13 months after clinical presentation. Based on this case study, the synchronous presentation of glioblastoma multiforme and adenocarcinoma of the colon might suggest a shorter survival rate for patients with Turcot syndrome. A literature review complements this paper.
Response to HER2 Inhibition in a Patient With Brain Metastasis With EGFR TKI Acquired Resistance and an HER2 Amplification
Authors: Arenda D Meedendorp, Arja Ter Elst, Nils A 't Hart, Harry J M Groen, Ed Schuuring, Anthonie J van der Wekken
Journal: Front Oncol (2018)
Keywords: egfr, her2, molecular tumor board, tki, brain metastasis, non-small-cell lung carcinoma
MeSH terms: Case Reports

A 62-year-old man was referred to our university hospital for treatment of advanced adenocarcinoma of the lung after disease progression on two lines of EGFR TKI and one line of chemotherapy. Fluorescent in situ hybridization analysis upon progression showed an HER2 amplification. At our weekly Molecular Tumor Board (MTB), a decision was made to treat this patient with afatinib, which resulted in a partial response. However, progression was observed with a facial nerve paresis due to a metastasis in the skull. A biopsy of a location in the thorax revealed the presence of an EGFR-T790M mutation associated with acquired resistance, after which treatment with osimertinib was started. After 6 months, disease progression was observed, and a new biopsy was taken from the pelvic bone, which revealed the original amplification of HER2 together with the EGFR-L858R mutation, the EGFR-T790M mutation was not detected. The MTB decided to treat the patient with trastuzumab/paclitaxel. A partial response was observed in different bone lesions, while the skull metastasis with ingrowth in the brain remained stable for 6 months. Because of progression of the bone metastases after 6 months, a biopsy of a lesion in the thorax wall was taken. In this lesion, the EGFR-T790M mutation could be detected again. The MTB advised to start treatment with a combination of osimertinib and afatinib. This resulted in an impressive clinical improvement and a partial response of the bone metastases on the most recent 18-fluorodeoxyglucose positron emission tomography and computer tomography-scan. In conclusion, adjusting treatment to the mutational make-up of the tumor is a great challenge. For optimal treatment response multiple biopsies and re-biopsy upon progression are imperative. As more genes are investigated, treatment decision becomes increasingly difficult, therefore, expert opinions from an MTB is essential.
Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome
Authors: Gonçalo Luzes Padeira, Catarina Araújo, Ana Isabel Cordeiro, João Freixo, Catarina Gregório Martins, João Farela Neves
Journal: Front Immunol (2021)
Keywords: ebv, icf-2, primary immune deficiencies, case report, lymphoproliferation
MeSH terms: Epstein-Barr Virus Infections / complications, Lymphoproliferative Disorders / diagnosis, Lymphoproliferative Disorders / etiology, Primary Immunodeficiency Diseases / diagnosis, Primary Immunodeficiency Diseases / etiology, T-Lymphocytes / immunology, T-Lymphocytes / pathology, Case Reports, Research Support, Non-U.S. Gov't, Biomarkers, Biopsy, Child, Preschool, Disease Susceptibility, Epstein-Barr Virus Infections / diagnosis, Epstein-Barr Virus Infections / virology, Herpesvirus 4, Human, Humans, Male, Symptom Assessment, T-Lymphocytes / metabolism, Tomography, X-Ray Computed, Biomarkers

In immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it has not been described in the other types of ICF. It is mandatory to raise the hypothesis of an underlying PID in case of severe EBV infection.
Subarachnoid Hemorrhage Associated with Ventricular Fibrillation and Out-of-Hospital Cardiac Arrest
Authors: Hidetada Fukushima, Kenji Nishio, Kazuo Okuchi
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Aneurysmal subarachonoid hemorrhage (SAH) is a common cause of out-of-hospital cardiac arrest (OHCA). Even after successful resuscitation, most of these SAH patients suffer brain death or enter a vegetative state. To our knowledge, survival without neurological damage from SAH following OHCA is quite a rare event. We treated a case of SAH who presented with OHCA and survived without neurological sequelae. A 50-year-old woman presented with ventricular fibrillation (VF), and was successfully resuscitated before hospital arrival. Since there was no evidence of acute coronary syndrome, a head CT scan was performed and established the diagnosis of SAH. On arrival, she was comatose, however, 3 hours after admission, her neurological status recovered. She underwent treatment for the ruptured aneurysms and was discharged from hospital without any neurological deficits.
Effectiveness of Factor XIII Infusion in Treatment of Refractory Ureteral Leakage after Kidney Transplantation
Authors: Ryoichi Maenosono, Tomohisa Matsunaga, Hajime Hirano, Hayahito Nomi, Shunri Taniguchi, Yuya Fujiwara, Koichiro Minami, Hirofumi Uehara, Teruo Inamoto, Haruhito Azuma
Journal: Case Rep Transplant (2020)
MeSH terms: Case Reports

Despite the evolution of transplantation techniques, urological complications are common and result in loss of graft. We report the case of a 57-year-old man who developed continuous urine leakage despite pyeloureteral neoanastomosis and stenting after kidney transplantation from his dizygotic twin. Suspecting ureteral leakage, we performed pyeloureteral neoanastomosis using his native right ureter and a ureteral stent 5 days after the kidney transplant. However, urine leakage continued for several days. Because the plasma factor XIII level decreased to 48%, we administered factor XIII products (Fibrogammin P; CSL Behring, King of Prussia, PA) after the surgery. Although its utility and safety in patients with renal failure and/or transplantation are unclear, urine leakage stopped after the infusion of fibrogammin without any side effects. This is the first case report of the use of factor XIII for refractory urine leakage after kidney transplantation. Although further studies are needed, administration of factor XIII products could be one option for refractory urine leakage after transplantation.
Recurrent posterior reversible encephalopathy syndrome potentially related to AIDS and end-stage renal disease: a case report and review of the literature
Authors: Olivia Hui-Chiun Chang, Alexandra Stanculescu, Chi Dola, William Benjamin Rothwell
Journal: Case Rep Med (2012)

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome that is characterized by clinical features including headache, altered mental status, cortical blindness, seizures, and other focal neurological signs as well as subcortical edema without infarction on neuroimaging. Under the umbrella of hypertensive encephalopathy, PRES is defined by reversible cerebral edema due to dysfunction of the cerebrovascular blood-brain barrier unit. The pathophysiology of PRES is thought to result from abnormalities in the transmembrane flow of intravascular fluid and proteins caused by two phenomena: one, cerebral autoregulatory failure and two, loss of integrity of the blood-brain barrier. PRES is not a common disease in patients with human immunodeficiency virus (HIV) and AIDS with only three previously reported cases. Both the HIV and end-stage renal disease appear to further compromise the blood brain barrier. Although uncommon, PRES recurrence has been described. To the best of our knowledge, this is the first report demonstrating recurrent PRES in a HIV patient on hemodialysis for end-stage renal disease.