OpenMed/multicare-articles huggingface dataset:
Aromatase deficiency, a rare syndrome: case report
Authors: Emine Kartal Baykan, Mehmet Erdoğan, Samim Özen, Şükran Darcan, L Füsun Saygılı
Journal: J Clin Res Pediatr Endocrinol (2013)
MeSH terms: 46, XX Disorders of Sex Development / genetics, Aromatase / deficiency, Gynecomastia / genetics, Infertility, Male / genetics, Metabolism, Inborn Errors / genetics, Case Reports, 46, XX Disorders of Sex Development / drug therapy, Adult, Aromatase / genetics, Aromatase / metabolism, DNA Mutational Analysis, Estradiol / blood, Estradiol / therapeutic use, Estrogens / blood, Estrogens / therapeutic use, Family Health, Female, Gynecomastia / drug therapy, Homozygote, Humans, Infertility, Male / drug therapy, Male, Metabolism, Inborn Errors / drug therapy, Mutation, Missense, Pedigree, Rare Diseases / drug therapy, Rare Diseases / genetics, Syndrome, Estrogens, Estradiol, Aromatase, CYP19A1 protein, human, Aromatase deficiency

Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency can induce delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis in both genders. Our patient was a 27-year-old male who presented with bone pain, recurrent bone fractures associated with minimal trauma starting in puberty, and a progressive increase in height. Laboratory tests revealed that the blood levels of follicle-stimulating hormone and luteinizing hormone were above normal, testosterone level was normal, and estrogen was undetectable. Plain bone radiography of the left wrist and hand demonstrated that the epiphyses were still unfused. Lumbar osteoporosis was detected in bone densitometry. In the genetic analysis, homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene, and a diagnosis of AD was reached. Treatment with 25 μg transdermal estradiol was started. All family members were examined. Homozygous R375H G-A mutation was detected in the patient's younger brother. Heterozygous R375H G-A mutation was found in his mother, father, and older brother. In conclusion, this AD patient requires lifetime estrogen replacement in order to provide sufficient bone mineralization, to reduce the risk of bone fractures, and to lead a healthy life. The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty.
Gastric Metastasis from Renal Cell Carcinoma, Clear Cell Type, Presenting with Gastrointestinal Bleeding
Authors: Mouhanna Abu Ghanimeh, Ayman Qasrawi, Omar Abughanimeh, Sakher Albadarin, John H Helzberg
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Renal cell carcinoma (RCC) accounts for 80-85% of all primary renal neoplasms. Although RCC can metastasize to any organ, gastric metastases from RCC are exceedingly rare. A 67-year-old male presented with melena and acute blood loss anemia. The patient had a history of RCC that had been treated with a radical nephrectomy. He had a recent myocardial infarction and was receiving double antiplatelet therapy. After hemodynamic stabilization, esophagogastroduodenoscopy showed a polypoid mass in the gastric fundus. The mass was excised. Histological and immunohistochemical evaluation were consistent with clear cell RCC. The polypoid lesion is consistent with a late solitary metastasis.
Extraordinary clinical benefit to sequential treatment with targeted therapy and immunotherapy of a BRAF V600E and PD-L1 positive metastatic lung adenocarcinoma
Authors: Shuyu D Li, Annia Martial, Alexa B Schrock, Jane J Liu
Journal: Exp Hematol Oncol (2017)
Keywords: braf v600e, immunotherapy, non-small cell lung cancer, pd-l1, sequential treatment, targeted therapy
MeSH terms: Case Reports

Background:
The treatment algorithm for metastatic non-small cell lung cancers (NSCLCs) has been evolving rapidly due to the development of new therapeutic agents. Although guidelines are provided by National Comprehensive Cancer Network (NCCN) for treatment options according to biomarker testing results, sequentially applying the three main modalities (chemotherapy, targeted therapy and immunotherapy) remains an ad hoc practice in clinic. In light of recent FDA approval of dabrafenib and trametinib combination for metastatic NSCLCs with BRAF V600E mutation, one question arises due to insufficient clinical data is if the targeted therapy should be used before immunotherapy in patients with both BRAF V600E and PD-L1 expression.
Case presentation:
We present a case of 74-year-old female, former smoker with metastatic lung adenocarcinoma. The BRAF V600E mutation among other abnormalities was identified by comprehensive genomic profiling. The patient had an excellent 2-year response to the combination of pemetrexed and sorafenib. The patient was then treated with dabrafenib due to the presence of the BRAF V600E mutation and intolerance to cytotoxic chemotherapy. Not only the patient had an 18-month durable response to dabrafenib, she experienced outstanding quality of life with no serious adverse effects. At the time of symptomatic progression, the patient was then treated with two cycles of pembrolizumab based on her positive PD-L1 staining (90%). She had early response and came off pembrolizumab due to side effects. Seven months after initiation of pembrolizumab, the patient is off all the therapy and is currently asymptomatic. The patient is surviving with metastatic disease for over 7 years as of to date.
Conclusions:
By appropriately sequencing the three main modalities of systemic therapies, we are able to achieve long-term disease control with minimal side effects even in a geriatric patient with multiple comorbidities. We argue that it is reasonable to first use a BRAF inhibitor before considering immunotherapy for NSCLCs positive for both BRAF V600E and PD-L1.
Therapeutic effect of dienogest on adenosarcoma arising from endometriosis: a case report
Authors: Nobutaka Tasaka, Koji Matsumoto, Toyomi Satoh, Takeo Minaguchi, Mamiko Onuki, Hiroyuki Ochi, Yumiko O Tanaka, Akiko Sakata, Masayuki Noguchi, Hiroyuki Yoshikawa
Journal: Springerplus (2013)
Keywords: adenosarcoma, dienogest, endometriosis, progestin

Dienogest is a novel synthesized progestin used for treatment of endometriosis. This is the first case report describing a therapeutic effect of dienogest on a gynecologic malignancy. The patient was a 44-year-old woman with advanced adenosarcoma arising from the endometriosis in the rectovaginal space and infiltrating the left pelvic wall, left ureter, rectum and vagina. The residual tumor after tumor debulking surgery was resistant to both chemotherapy and radiotherapy. Dienogest was used as a substitute for medroxyprogesterone acetate because of the presence of deep vein thrombosis. Based on the RECIST criteria, partial response was obtained with oral dienogest therapy at six months and the serum CA125 level also decreased from 70 U/ml to 16 U/ml. The tumor remained stable up to 21 months. Thromboembolism or other adverse effects did not occur during the dienogest therapy. Dienogest may be useful for the treatment of adenosarcoma arising from endometriosis.
Treatment of a multitraumatized tortured refugee needing an interpreter with exposure therapy
Authors: Bo Søndergaard Jensen
Journal: Case Rep Psychiatry (2013)

This paper described the application and feasibility of exposure therapy treatment (ET) for posttraumatic stress disorder (PTSD) in a multitraumatized tortured refugee with chronic PTSD and depression, in need of an interpreter. The patient received 26 one-hour sessions of ET involving exposure to his trauma-related memories. Symptoms of PTSD, depression, and anxiety were assessed at pre- and posttreatment and 3-, 6-, and 12-month followup with the Harvard Trauma Questionnaire (HTQ-R), PTSD Symptom Scale-Self Report (PSS-SR), Major depression inventory (MDI), and Beck Anxiety Inventory (BAI). Treatment led to a significant improvement across all measures of posttraumatic stress disorder, anxiety, and depression, and the improvement was maintained at the 12-month follow-up. The results from this case study provide further preliminary evidence that ET may be effective in treating multi-traumatized torture survivors who are refugees and in need of an interpreter, despite the additional stressors and symptoms complexity experienced by tortured refugees.
Spontaneous multi-focal coronary artery spasm: a case report
Authors: Mohammad Ali Ostovan, Mahdi Sajedi Khanian, Sahand Hamidi, Mostafa Fattahi, Pooyan Dehghani
Journal: J Cardiovasc Thorac Res (2016)
Keywords: coronary spasm, intracoronary nitroglycerin, myocardial infarction
MeSH terms: Case Reports

Spontaneous coronary artery vasospasm is one of the important causes of acute chest pain syndromes. The diagnosis of diffuse multifocal spasm can be quite challenging and it could be easily mistaken for diffuse coronary artery disease. The use of intracoronary nitroglycerin can relieve spasm and reveal the real extent of coronary artery disease. Herein we present a case presenting with acute myocardial infarction due to severe coronary artery spasm that had even received fibrinolytic therapy. Multiple narrowing was shown during coronary angiography and the patient was scheduled for percutaneous coronary intervention (PCI). But after intracoronary (IC) injection of nitroglycerin, all of lesions disappeared completely and the diagnosis of coronary spasm was confirmed.
Presumed Primary Bacterial Rhinosinusitis-Associated Optic Neuritis in a Cat
Authors: Rachael Moghaddam, Jared A Jaffey, Eric T Hostnik, Alexandra Brower, Kathryn L Wycislo
Journal: Front Vet Sci (2020)
Keywords: actinomyces spp, escherichia coli, epistaxis, feline, optic neuritis, rhinitis, rhinosinusitis
MeSH terms: Case Reports

Acute bacterial rhinosinusitis is a common illness in children and can lead to complications such as preseptal/orbital cellulitis, orbital/subdural/cerebral abscessation, osteomyelitis, meningitis, and optic neuritis with blindness. Primary bacterial infections leading to rhinosinusitis in cats is rare and descriptive reports are lacking. The current report describes a cat with Escherichia coli and Actinomyces spp. infections causing severe chronic rhinosinusitis and subsequent loss of vision. Treatment with antibiotics and prednisolone coincided with a complete resolution of nasal disease-related clinical signs and substantial improvement in vision. This is the first description of a cat with presumed severe primary bacterial rhinosinusitis resulting in optic neuritis and loss of vision.
Perineural spread of recurrent cutaneous melanoma along cervical nerves into the spinal cord
Authors: W Phillip Law, Nolette Pereira, Kasturi Vaska
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Perineural spread of malignant melanoma is rare but increasingly recognized as a potential mechanism of metastasis particularly in desmoplastic melanoma, which has neurotropic characteristics. In the head and neck, this form of melanoma spread affecting cranial nerves has been described; however, to date, only one case of melanoma spreading to the brachial plexus has ever been reported. We present a case of cutaneous melanoma recurrence below the right jaw with perineural spread along the C3 and C4 nerves into the spinal cord, something which has not been documented previously in the literature.
Application of Hybrid Extracorporeal Membrane Oxygenation for the Treatment of Subsequent Shock following Acute Respiratory Distress Syndrome Developing after Firearm Injury
Authors: Yahya Yildiz, Didem Melis Oztas, Mustafa Ozer Ulukan, Korhan Erkanli, Orcun Unal, Murat Ugurlucan, Halil Turkoglu
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

The use of extracorporeal membrane oxygenation (ECMO) in acute respiratory distress syndrome (ARDS) and cardio-circulatory shock has been widely accepted. In recent years, a variety of novel and exceptional indications for ECMO have been proposed; however, experience with ECMO use in the presence of multiple penetrating injuries is limited. In this report, we present successful ECMO application in a patient with multiple firearm injuries. Veno-venous ECMO was applied for ARDS and converted to the venoarterial mode when the patient developed septic cardiomyopathy. The clinical status of the patient gradually improved, and the patient was discharged from the hospital after 24 days, successfully.
Retraining walking adaptability following incomplete spinal cord injury
Authors: Emily J Fox, Nicole J Tester, Katie A Butera, Dena R Howland, Martina R Spiess, Paula L Castro-Chapman, Andrea L Behrman
Journal: Spinal Cord Ser Cases (2017)

Introduction:
Functional walking requires the ability to modify one's gait pattern to environmental demands and task goals-gait adaptability. Following incomplete spinal cord injury (ISCI), gait rehabilitation such as locomotor training (Basic-LT) emphasizes intense, repetitive stepping practice. Rehabilitation approaches focusing on practice of gait adaptability tasks have not been established for individuals with ISCIs but may promote recovery of higher level walking skills. The primary purpose of this case series was to describe and determine the feasibility of administering a gait adaptability retraining approach-Adapt-LT-by comparing the dose and intensity of Adapt-LT to Basic-LT.
Case presentation:
Three individuals with ISCIs (>1 year, AIS C or D) completed three weeks each (15 sessions) of Basic-LT and Adapt-LT. Interventions included practice on a treadmill with body weight support and practice overground (≥30 mins total). Adapt-LT focused on speed changes, obstacle negotiation, and backward walking. Training parameters (step counts, speeds, perceived exertion) were compared and outcomes assessed pre and post interventions. Based on completion of the protocol and similarities in training parameters in the two interventions, it was feasible to administer Adapt-LT with a similar dosage and intensity as Basic-LT. Additionally, the participants demonstrated gains in walking function and balance following each training type.
Discussion:
Rehabilitation that includes stepping practice with adaptability tasks is feasible for individuals with ISCIs. Further investigation is needed to determine the efficacy of Adapt-LT.
Anti-PD-1 Therapy-Associated Perforating Colitis
Authors: Romulo Celli, Harriet M Kluger, Xuchen Zhang
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Inhibition of immune checkpoint T cell regulatory molecules by using programmed cell death protein 1 (PD-1), or its ligand (PDL-1), and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) has been increasingly used to treat advanced malignancies. The immune-related adverse effects associated with these treatments such as diarrhea, colitis, and CTLA-4 treatment-associated perforating colitis have been reported. However, anti-PD-1/PD-L1-associated perforating colitis has rarely been reported. We report a case of colonic perforation in a patient recently treated with pembrolizumab, a PD-1 inhibitor for metastatic melanoma. Awareness of anti-PD-1/PD-L1-associated colitis and perforation will facilitate a timely diagnosis and management as they are increasingly used in oncology.
The Dreaded Black Line
Authors: Mohammed Jasim M Al-Janabi, Nirav Gupta, Seema Döring
Journal: J Belg Soc Radiol (2023)
Keywords: fracture, stress fracture, the dreaded black line, tibia
MeSH terms: Case Reports

Teaching Point: "The dreaded black line" is a subtle radiographic sign for a unique type of high-risk stress fracture in anterior tibial cortex.
Primary Cytomegalovirus Infection Causing Guillain-Barré Syndrome in a Living Renal Allograft Recipient
Authors: Massini Merzkani, Ezra Israel, Mala Sachdeva
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Guillain-Barré Syndrome (GBS) is a common acute autoimmune polyneuropathy in adults. There have been few reported cases of Guillain-Barré Syndrome associated with active cytomegalovirus (CMV) infection in renal transplant recipients. Here we present a case of active CMV viremia inducing Guillain-Barré Syndrome in a renal transplant recipient. We discuss the treatment regimen utilized. Furthermore, we performed a review of the literature and discuss the cases of CMV induced GBS in renal transplant recipients.
Isolated laryngeal amyloidosis
Authors: Fatholah Behnoud, Neda Baghbanian
Journal: Iran J Otorhinolaryngol (2013)
Keywords: amyloidosis, hoarseness, larynx
MeSH terms: Case Reports

Introduction:
Amyloidosis comprises a heterogeneous group of disorders characterized by the deposition of amyloid protein in various organs of the body. The larynx is one of the rarer sites where amyloidosis occurs.
Case report:
A 36-year-old man presented with a two-year history of hoarseness of voice. He had a positive history of smoking, but no history of long-term consumption of alcohol. Physical examination revealed a pinkish mass about 1.5× 1.5 cm in size on his left False Vocal Cord (FVC) extending to the left arytenoid, which resulted in asymmetry of the posterior larynx. He also had a chronic perforation of the right tympanic membrane with a conductive hearing loss consisting of a 50 dB gap in pure tune audiometry. The FVC mass was excised with a CO2 laser and on follow-up his voice got much better, but the hoarseness was not fully resolved.
Conclusion:
Amyloidosis of the larynx is a rare, usually benign process but the area is the most common site for isolated amyloid deposits to occur in the head and neck.
Ineffective Absorption? Failure of Direct-Acting Therapy for Chronic Hepatitis C in Cirrhotic Patients With Roux-en-Y Gastric Bypass
Authors: Clara Y Tow, John F Reinus
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: roux-en-y, cirrhosis, direct-acting antiviral, gastric bypass, hepatitis c virus
MeSH terms: Antiviral Agents / therapeutic use, Hepatitis C, Chronic / complications, Hepatitis C, Chronic / drug therapy, Liver Cirrhosis / complications, Case Reports, Antiviral Agents / pharmacokinetics, Female, Gastric Bypass / adverse effects, Hepacivirus / genetics, Hepatitis C, Chronic / virology, Humans, Liver Cirrhosis / surgery, Male, Middle Aged, Sustained Virologic Response, Treatment Failure, Antiviral Agents

In this era of direct-acting antiviral (DAA) therapy for chronic hepatitis C virus (HCV) infection, treated patients have extremely high rates of sustained virologic response to short courses of therapy regardless of stage of fibrosis. Treatment failure is uncommon and often attributed to medication noncompliance or viral resistance to drug. This report describes 2 Child-Pugh-A cirrhotic patients who failed to clear HCV in response to therapy with DAAs. Each patient had Roux-en-Y gastric bypass (RYGB) surgery preceding DAA therapy. RYGB may create multiple barriers to adequate DAA absorption as a result of changes in gastrointestinal physiology. Treatment monitoring and duration should be carefully considered in this unique patient population.
Persistent Response to a Combination Treatment Featuring a Targeted Agent and an Immune Checkpoint Inhibitor in a Patient With Collecting Duct Renal Carcinoma: A Case Report and Literature Review
Authors: Weimin Zhou, Ji Huang, Qiuming He, Qingfeng Luo, Xiaofang Zhang, Xuewei Tao, Hanzhi Dong, Xinhua Tu
Journal: Front Oncol (2021)
Keywords: collecting duct carcinoma, immune checkpoint inhibitor, immunotherapy, kidney cancer, targeted therapy
MeSH terms: Case Reports

Collecting duct carcinoma (CDC) is a rare and highly aggressive subtype of kidney cancer that is associated with a poor prognosis. At present, there is no effective treatment for CDC. Herein, we report a case of metastatic CDC treated with a combination of a tyrosine kinase inhibitor and an immune checkpoint inhibitor. A 67-year-old male was diagnosed with CDC with lung and bone metastasis. Pazopanib and camrelizumab were administered after cytoreductive nephrectomy. The patient achieved a partial response after one cycle of treatment; however, he then experienced serious drug-induced hepatic injury. Therefore, we discontinued camrelizumab and administered monotherapy with pazopanib. Three months later, the cancer had progressed and axitinib and sintilimab were administered. The patient achieved a partial response, accompanied by the complete disappearance of the metastatic lesion in the lung. The patient had an excellent physical status after 11 months. This is the first reported case of metastatic CDC successfully treated with a combination of a tyrosine kinase inhibitor and an immune checkpoint inhibitor. This form of combination treatment may be an effective option for treating metastatic CDC.
Case Report: Trans-Articular External Skeletal Fixation of the Hip for a Highly Comminuted Juxta-Articular Fracture of the Proximal Femur Caused by Gunshot Injury in a Cat
Authors: Hyun-Jung Han, Kyeongpung Lee, Hun-Young Yoon
Journal: Front Vet Sci (2021)
Keywords: cat, comminuted fracture, coxofemoral joint, external skeletal fixation, gunshot, juxta-articular, proximal femur, trans-articular
MeSH terms: Case Reports

This report describes a novel surgical technique for trans-articular external skeletal fixation (TA-ESF) of the hip to stabilize a rare, highly comminuted juxta-articular fracture of the proximal femoral segment involving the metaphysis and diaphysis in a cat. A 2-year-old, castrated male, Korean shorthair cat was admitted for a left femoral fracture caused by gunshot injury. Radiographs and computed tomography (CT) scans revealed a highly comminuted proximal femoral diaphyseal fracture that involved the femoral neck and the greater trochanter. The left femoral head was intact on CT. Under fluoroscopic guidance, an intramedullary Steinmann pin was placed to align the femur, and five positive-profile, end-threaded pins were placed in the left hemipelvis and distal femur. A triangulated frame of connecting bars was constructed using Steinmann pins and epoxy resin for TA-ESF. This secured the pins placed in the pelvis and femur as well as the intramedullary pin, providing proximal femoral stabilization by trans-articular fixation of the hip. The cat began placing weight on the left pelvic limb 4 days postoperatively, and progressively obtained near-normal limb function by day 112. The TA-ESF was partially dismantled to a linear tie-in construct on day 64 and was completely removed on day 161. Final radiographs on day 161 revealed lack of bone healing in the proximal segment, especially femoral head and neck, despite functional recovery of the injured leg. At one year postoperatively, the cat had normal limb function without any noticeable complications. On follow-up 29 months after surgery, the owner reported that the cat had normal limb function without any noticeable complications. Despite insufficient bone healing in the cat, TA-ESF of the hip allowed for satisfactory functional recovery of this challenging juxta-articular fracture of the proximal femur, which was not amenable to stabilization with a traditional non-load-sharing fixation system.