OpenMed/multicare-articles huggingface dataset:
It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer
Authors: Patsy W P Lee, Scott W Strum, Elena Tsvetkova
Journal: Case Rep Oncol Med (2023)
MeSH terms: Case Reports

Background:
We describe a case report of a 67-year-old male with PDAC who experienced an exceptional survival outcome during systemic therapy and its implications in precision medicine. We hypothesize that his outcomes are attributable, in part, to a germline BRCA2 deletion and somatic GNAS substitution.
Methods:
Retrospective single-patient chart review was performed at the London Regional Cancer Program, as well as a structured literature search spanning all years in PubMed of BRCA and GNAS mutations in pancreatic cancer.
Results:
The case described herein represents a 67-year-old male who survived over 27 months after third-line treatment with gemcitabine, docetaxel, and capecitabine (GTX) chemotherapy for metastatic PDAC after progression on gemcitabine and Abraxane and then on FOLFIRINOX. His survival far exceeded the median overall survival metrics. Genetic testing revealed a pathogenic heterozygous germline BRCA2 6643delT p.(Tyr2215Thrfs∗14) frameshift mutation and somatic GNAS 2531G > A p.(Arg844His) mutation.
Conclusions:
This case highlights the urgent need to expand our knowledge of cancer biology to advance personalized cancer treatment and therapy development.
Tuberculous mastitis simulating carcinoma of the breast in a young Nigerian woman: a case report
Authors: Donatus Sabageh, Emmanuel Afolabi Amao, Adebisi Ayo-Aderibigbe A, Adedayo Olukemi Sabageh
Journal: Pan Afr Med J (2015)
Keywords: nigerian woman, tuberculous mastitis, breast carcinoma, mimic
MeSH terms: Antitubercular Agents / therapeutic use, Breast Neoplasms / diagnosis, Mastitis / diagnosis, Tuberculosis / diagnosis, Case Reports, Adult, Female, Humans, Mastitis / drug therapy, Mastitis / microbiology, Nigeria, Tuberculosis / drug therapy, Tuberculosis / pathology, Tuberculosis, Lymph Node / diagnosis, Tuberculosis, Lymph Node / drug therapy, Tuberculosis, Lymph Node / pathology, Antitubercular Agents

Tuberculous mastitis is an uncommon disease even in countries where tuberculosis is highly endemic. It typically presents a diagnostic challenge masquerading as carcinoma or other primary disease of the breast. We report the case of a young multiparous Nigerian woman who presented with a tender left breast lump and enlargement of the left axillary lymph nodes for which a provisional diagnosis of carcinoma of the breast was made after clinical and radiological evaluation. The mass was pathologically diagnosed as tuberculous mastitis and anti-tuberculous therapy was instituted although she later absconded. This case shows that TM may present a diagnostic challenge on clinical, radiologic and microbiological investigation. Therefore, a high index of suspicion as well as FNAC and/or histological evaluation of tissue samples remain very important its diagnosis.
A case report of typhoidal acute acalculous cholecystitis
Authors: Neeha Rajan, Imeldah Motoroko, Dilshan Udayasiri, Jo-Lyn McKenzie, Jason S C Tan, Adrian R Tramontana
Journal: Case Rep Infect Dis (2014)

Introduction. Acalculous cholecystitis in the setting of typhoid fever in adults is an infrequent clinical encounter, reported sparsely in the literature. In this case report we review the presentation and management of enteric fever involving the biliary system and consider the literature surrounding this topic. The aim of this case report is to alert clinicians to the potential diagnosis of extraintestinal complications in the setting of typhoid fever in the returned traveller, requiring surgical intervention. Presentation of Case. We report the case of a 23-year-old woman with acalculous cholecystitis secondary to Salmonella Typhi. Discussion. There is scarce evidence surrounding the optimal treatment and prognosis of typhoidal acalculous cholecystitis. In the current case, surgical invention was favoured due to failure of medical management. Conclusion. Clinical judgement dictated surgical intervention in this case of typhoidal acute acalculous cholecystitis, and cholecystectomy was safely performed.
Case Report: Interventional therapy for portal venous stenosis caused by systemic vasculitis
Authors: Qiuyu Cai, Bo Wei, Yang Tai, Hao Wu
Journal: Front Immunol (2022)
Keywords: angioplasty, portal hypertension, portal venous stenosis, stent implantation, systemic vasculitis
MeSH terms: Hypertension, Portal, Systemic Vasculitis / pathology, Case Reports, Research Support, Non-U.S. Gov't, Ascites / pathology, Constriction, Pathologic, Female, Gastrointestinal Hemorrhage / etiology, Gastrointestinal Hemorrhage / therapy, Humans, Middle Aged, Portal Vein / diagnostic imaging, Portal Vein / pathology, Portal Vein / surgery

Systemic vasculitis are multisystem blood vessel disorders. However, Portal venous involvement is extremely rare, which represents a diagnostic and therapeutic challenge due to the heterogeneous nature, a lack of diagnostic criteria and limited effective therapy of vasculitis. We have reported a 48-year-old woman who was previously diagnosed with systemic vasculitis and was treated with prednisone, presented with gastrointestinal (GI) bleeding on admission. Further abdominal contrast-enhanced computed tomography (CT) with three-dimensional reconstruction suggested atrophic left hepatic lobe, enlarged spleen, and severe stenosis of main portal vein. Liver biopsy showed no evidence of fibrosis/cirrhosis. To prevent rebleeding, portal venous angioplasty by balloon dilation with collateral varices embolization was performed, and the GI hemorrhage was resolved completely. However, refractory ascites presented 8 months postoperatively. Abdominal CT angiography confirmed the recurrence of portal venous stenosis. Portal venous angioplasty by stent implantation was then performed to treat the portal hypertension (PHT)-related complications. After the intervention, the patient received anticoagulation therapy and continued immunosuppressive therapy. During the 5-year follow-up, the patient did not experience any onset of GI bleeding or ascites. Therefore, portal venous angioplasty with stent placement could be an effective treatment to prevent PHT-related complications when immunosuppression therapy failed.
Gastric Pneumatosis in the Setting of Diabetic Ketoacidosis
Authors: Mohammed Rifat Shaik, Chet Ranabhat, Nishat Anjum Shaik, Akshay Duddu, Zaid Bilgrami, Guofeng Xie
Journal: Case Rep Gastrointest Med (2023)
MeSH terms: Case Reports

Gastric pneumatosis, an uncommon radiologic finding characterized by the presence of gas within the gastric wall, presents a diagnostic challenge due to its association with both benign gastric emphysema and more severe emphysematous gastritis. The contrasting outcomes and management approaches for these conditions underscore the necessity for accurate diagnosis and appropriate intervention. We present a case of a 29-year-old female with a medical history significant for type 1 diabetes mellitus who presented with abdominal pain, nausea, and vomiting. Initial evaluation revealed elevated blood glucose levels, an anion gap metabolic acidosis, and evidence of gastric pneumatosis on imaging. The patient was managed with aggressive fluid resuscitation and intravenous insulin therapy per diabetic ketoacidosis protocol. General surgery evaluation ruled out the need for acute surgical intervention and attributed the gastric pneumatosis to increased intragastric pressures from prolonged vomiting. The patient was managed with conservative measures, including nasogastric tube decompression and antibiotics. Over the course of a few days, the patient showed signs of clinical and radiologic improvement, with a resolution of symptoms. This case highlights the importance of accurate diagnosis and appropriate management strategies tailored to the underlying pathology to optimize patient outcomes in cases of gastric pneumatosis.
Hydatid cyst of the pericardium: a case report
Authors: Abdelilah Mouhsine, Ahmed Belkouch, El Mehdi Athmane, Redouane Roukhssi, Abdelghani El Fikri, Lahcen Belyamani, Mbarek Mahfoudi
Journal: Pan Afr Med J (2014)
Keywords: ct scan, mri, echocardiography, hydatid cyst, pericardium
MeSH terms: Echinococcosis / diagnostic imaging, Heart Diseases / diagnostic imaging, Case Reports, Adolescent, Female, Heart Diseases / pathology, Humans, Morocco, Pericardium / diagnostic imaging, Pericardium / pathology, Radiography, Thoracic, Tomography, X-Ray Computed

Pericardial hydatid cystis a rare condition; its clinical presentation is variable. It can reveal straightaway at the stage of life threatening complications. We report the case of a 17 years old female Arab patient, who complained of a sudden onset dyspnea, clinical examination was poor; the diagnosis was suspected by echocardiography and confirmed by the CT scan and hydatid serology. Furthermore, no other location was noted. Surgical treatmentwas proposed. The modern cross-sectional imaging especially CT scan and MRI revolutionized the diagnosis of this rare hydatid location.
Case Report: Rare Case of Synchronous Neck Metastasis From Metachronous Bilateral Renal Cell Carcinoma
Authors: Jun Dai, Chen Fang, Xiaoqun Yang, Xin Huang, Wei He, Chenghe Wang, Juping Zhao, Fukang Sun
Journal: Front Oncol (2021)
Keywords: mtscc, prcc, bilateral, case report, gene detection, neck metastasis
MeSH terms: Case Reports

Renal cell carcinoma (RCC) is a malignant tumor that can metastasize easily. Hence, many patients have already developed metastasis when they are diagnosed. It is also one of the most common tumors that metastasize to the head and neck through extranodal disease. Herein, we reported a case of a 53-year-old man with cervical metastasis from bilateral RCC. Interestingly, whole exome sequencing (WES) and clonal evolution analysis revealed that bilateral renal tumor lesions and neck metastases (squamous cell carcinoma) share the same subclones and a large number of gene variants, while the pathological morphology is different (left nephrotic foci, a mixed pattern of mucinous tubular and spindle cell carcinoma (MTSCC) with papillary adenoma; right renal foci, papillary renal cell carcinoma (PRCC)). This was first reported in RCCs to the best of our knowledge. This case suggests that genotype analysis can be a powerful supplementary examination for clinical histopathological diagnosis. Gene detection has great significance for the accurate diagnosis and treatment of RCC metastasis or multiple lesions.
Severe hemodynamic instability during elective surgery for a patient with a giant pheochromocytoma: A case report
Authors: J Y Hu, C Wang, H B Wang, P X Chen, Z J Zhen, W Y Lau
Journal: Int J Surg Case Rep (2019)
Keywords: anaesthesiology, laparotomy, pheochromocytoma, surgery

Introduction:
We present a patient with a huge pheochromocytoma who ran a stormy intraoperative course.
Presentation of case:
A 57-year-old woman underwent elective open surgery for a giant pheochromocytoma (16 × 15 × 10 cm) after adequate preoperative medical preparation. The patient developed severe hypertension on tumor mobilization followed bylife-threatening hypotensionwhen the tumor was removed. The hemodynamic instability was successfully managed. Histology showed a pheochromocytomawith tumor-free resection margins. The patient fully recoveredandthe hypertension completely resolved after the operation.
Discussion:
This is a rare and educational case report on a patient with a huge pheochromocytoma who was successfully managed by a multidisciplinary team of specialists.
Conclusion:
Pheochromocytoma should be resected if technically possible. A multidisciplinary team approach is required for proper management.
Primary adenoid cystic carcinoma of the trachea: a report of two cases and literature review
Authors: Mohammed El Marjany, Adil Arsalane, Hassan Sifat, Khalid Andaloussi, Mohamed Oukabli, Khalid Hadadi, El Hassan Kabiri, Hamid Mansouri
Journal: Pan Afr Med J (2014)
Keywords: adenoid cystic carcinoma, radiotherapy, trachea, tracheal resection
MeSH terms: Carcinoma, Adenoid Cystic / pathology, Tracheal Neoplasms / pathology, Case Reports, Review, Carcinoma, Adenoid Cystic / therapy, Dyspnea / etiology, Female, Follow-Up Studies, Humans, Male, Middle Aged, Neoplasm Recurrence, Local, Radiotherapy, Adjuvant / methods, Tracheal Neoplasms / therapy

Adenoid cystic carcinoma (ACC) of the trachea is rare, it represents 1% of all respiratory tract cancers. It's generally considered as a slow-growing, with pronlonged clinical course. Most patients present with dyspnea, and the symptoms often mimic those of asthma or chronic bronchitis Surgical resection is the mainstay of treatment often combined to radiotherapy because of close surgical margins. When surgery isn't possible, most tumors respond to radiotherapy alone wich often results in long periods of remission We report two cases of primary ACC of trachea: a 49 year old male presented a distal unresectable tracheal ACC treated with chemo-radiotherapy who developed a recurrence and died 7 years after the diagnosis. And a 50 years old female with a proximal tracheal tumor treated by surgical resection and end- to- end anastomosis followed by adjuvant radiotherapy. At 10 months follow-up, our patient shows no evidence of disease with negative histological findings.
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Authors: Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, Tomofumi Fukuda, Mitsuhiro Kato, Mitsuko Nakashima, Naomichi Matsumoto, Hirotomo Saitsu
Journal: Hum Genome Var (2018)
MeSH terms: Case Reports

We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the NHLRC1 gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found.
Airway Management for Penetrating Neck Trauma: A Case Report
Authors: João Oliveira, Nuno Maia, Joana Gonçalves, Valentina Almeida
Journal: Cureus (2023)
Keywords: airway management, endotracheal intubation, neck injury, tracheal laceration, ­trauma
MeSH terms: Case Reports

Penetrating neck injuries comprise 5-10% of traumatic injuries in adults and can cause immediate life-threatening compromise. Performing awake fibreoptic intubation in cooperative patients when airway management is not time critical has been suggested as a method of securing these potentially complicated airways. We report a case of a male in his 20s who presented to the emergency service with neck trauma following a bicycle road accident. With the exception of a wound in the neck region, there were no alarming distress signs or symptoms of airway endangerment. Imagiological evaluation revealed a rupture of the right lateral tracheal wall. He was referred for urgent surgery. We performed intubation with video laryngoscopy assisted by a neck surgery team, keeping the patient breathing spontaneously and under deep sedation. After advancing the tube through the vocal cords, the surgeon explored the cervical wound, guiding the tube through the trachea. Keeping spontaneous ventilation and advancing the tracheal tube beyond the lesion under visualization is essential when managing a traumatized airway. Tracheal intubation using video laryngoscopy, assisted by a neck surgeon guiding the tube, and avoiding creation of a false passage can be a safe alternative to fibreoptic intubation in selected cases of tracheal laceration.
Case Report of a Rare Cystic Mediastinal Lymphangioma Mimicking Recurrent Pleural Effusion
Authors: Fateme Salehi, Mark Landis, Richard Inculet, Daniele Wiseman
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Mediastinal lymphangiomas are rare benign congenital malformations, but complications can occur, including infection, cystic hemorrhage, superior vena cava syndrome, airway compromise, and chylothorax. Radiologically, lymphangiomas are well-defined masses, with low attenuation ranging from simple to complex fluid and fat. They often encase adjacent mediastinal structures. We present a case of mediastinal lymphangioma in a young female, who presented with recurrent complex pleural effusions, initially thought to represent an empyema and/or necrotic mass. Despite surgical chest tube and interventional radiology drainage, fluid reaccumulated. Upon further review, the interventional and thoracic radiologist concurred that the complex collection was in fact predominantly extra pleural in location. The patient underwent partial resection after it was discovered intraoperatively that the extra pleural cystic mass was contiguous with and extended deeply into the mediastinum. Histopathology confirmed the diagnosis of lymphangioma.
The inside mystery of jejunal gastrointestinal stromal tumor: a rare case report and review of the literature
Authors: A K Dhull, V Kaushal, R Dhankhar, R Atri, H Singh, N Marwah
Journal: Case Rep Oncol Med (2011)
MeSH terms: Case Reports

Gastrointestinal stromal tumors (GISTs) are malignant and rare form of soft tissue sarcoma of the digestive tract. The incidence of gastrointestinal stromal tumors is very low Kramer et al. 2005 Jejunal GISTs are extremely rare. Here we present a rare case of jejunal GIST with unusually large size at presentation. The patient presented with severe abdomen pain, exophytic growth, and dimorphic anemia. Surgical resection of the tumor was carried out, and operative findings revealed a 15 × 10 cm growth, arising from serosal surface of jejunum, at the antimesenteric surface. Diagnosis in this case was made by subjecting the resected specimen to immunohistochemical analysis. In view of large size of the resected tumor, and high-risk histopathological features, imatinib mesylate 400 mg once daily was given as adjuvant chemotherapy. Patient is asymptomatic without any evidence of tumor recurrence after six months of postoperative followup. Imatinib as such is recommended in metastatic, residual or recurrent cases of GISTs or which are surgically not removable; however, recent recommendations suggests the use of imatinib mesylate after radical surgery in high-risk cases, because it has shown a significant decrease in the recurrence rate, and the Food and Drug Administration (FDA) has also approved the use of imatinib as adjuvant therapy after complete resection of localized, primary GIST.
Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature
Authors: Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Journal: Case Rep Pediatr (2016)

Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor. We report the case of a four-and-a-half-year-old boy with an interstitial deletion involving the long arm of chromosome 18 (46,XY,del(18)(q21.32q22.1)) encompassing the MC4R gene. This patient presented with tall stature and hyperphagia within his first 18 months of life leading to significant obesity. This case supports haploinsufficiency of MC4-R as it describes a MC4-R deficiency phenotype in a patient heterozygous for a full MC4R gene deletion. The intact functional allele with MC4-R haploinsufficiency has the potential to favor a therapeutic response to gastric surgery. Currently, small molecule MC4-R agonists are under development for pharmacologic therapy.
Slipping Rib Syndrome in a Female Adult with Longstanding Intractable Upper Abdominal Pain
Authors: Noman Ahmed Jang Khan, Saba Waseem, Saad Ullah, Hassan Mehmood
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Slipping rib syndrome is a rare cause of abdominal or lower chest pain that can remain undiagnosed for many years. Awareness among health care personnel of this rare but significant disorder is necessary for early recognition. Prompt treatment can avoid unnecessary testing, radiographic exposure, and years of debilitating pain. A 52-year-old female was evaluated for a 3-year history of recurrent abdominal and lower chest pain. Pain was sharp, primarily located in the lower chest and subcostal region left more than right, waxing and waning, nonradiating, and aggravates with specific movements. She underwent frequent physical therapies, treated with multiple muscle relaxants and analgesics with minimal improvement. Imaging modalities including CT scan, MRI, and X-rays performed on multiple occasions failed to signify any underlying abnormality. Complete physical examination was unremarkable except for positive hooking maneuver. Dynamic flow ultrasound of lower chest was performed which showed slipping of the lowest rib over the next lowest rib bilaterally left worse than right, findings consistent with slipping rib syndrome. Slipping rib syndrome is caused by hypermobility of the floating ribs (8 to 12) which are not connected to the sternum but attached to each other with ligaments. Diagnosis is mostly clinical, and radiographic tests are rarely necessary. Hooking maneuver is a simple clinical test to reproduce pain and can aid in the diagnosis. Reassurance and avoiding postures that worsen pain are usually helpful. In refractory cases, nerve block and surgical intervention may be required.
Hypocalciuric Hypercalcemia due to Impaired Renal Tubular Calcium Excretion in a Type 2 Diabetic Patient
Authors: Sihao Yang, Yan Ren, Xi Li, Haoming Tian, Zhenmei An, Tao Chen
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

The case we presented here was a 73-year-old gentleman, who was admitted to endocrinology department due to recurrent fatigue for 1 year. He had medical histories of type 2 diabetes for 18 years and developed CKD 4 years ago. He also suffered from dilated cardiomyopathy, and coronary heart disease, moderate sleep apnea syndrome, primary hypothyroidism, and gout. His treatment regimen was complicated which included Caltrate D and compound α-keto acid (1200 mg calcium/d). Laboratory examination revealed that his serum calcium level elevated, 24-hour urine calcium output decreased, PTH level was suppressed, and 25-hydroxyvitamin D was in normal low range. No other specific abnormalities were found in serum bone turnover markers, ultrasonography, computed tomography, and bone scintigraphy. The diagnosis was suggested to be hypocalciuric hypercalcemia but was different from familial or acquired hypocalciuric hypercalcemia which were featured by elevated PTH level. The patient was asked to restrict calcium intake and to take diuretics; then his serum calcium level gradually lowered. In brief, patients with CKD could present with hypocalciuric hypercalcemia due to impaired renal calcium excretion. In this case, calcium restriction should be applied for treatment.