OpenMed/multicare-articles huggingface dataset:
Breast tuberculosis cases rising in Sicily
Authors: Angela Strazzanti, Claudio Trovato, Santi Gangi, Francesco Basile
Journal: Int J Surg Case Rep (2018)
Keywords: case reports, extra-pulmonary localization, fine nipple aspiration, granulomatous mastitis, scrofola, tuberculosis

Introduction:
Our work has been reported in line with the SCARE criteria [21]. Mammary tuberculosis (TM) is an extremely rare condition (Khanna et al., 2000 [1]). It has been estimated to be 0.1% of breast lesions examined histologically, but it reaches 3-4% in countries such as India and Africa where the disease shows a high incidence. This disease can present a diagnostic problem in radiological and microbiological investigations, and thus extreme caution is necessary.
Presentation of case:
A 26 year-old Eritrean female with a personal history of HIV infection came to our Emergency Department showing generalized limphoadenopathy and weakness in addition to a huge right breast mass. Our examination revealed a tender mass measuring 12 × 10 cm that involved all right breast. Her skin was not erythematous and local temperature was normal. She was painless. Fine needle aspiration (FNA) showed a milky and greenish shaded fluid.
Conclusions:
Nowadays the differential diagnosis between breast cancer and breast tuberculosis is very important, mostly in Italy and in particular in Sicily, where the massive influx of immigrants has compelled physicians to reconsider the presence of !tuberculosis.
Transvaginal Small Bowel Evisceration following Abdominoperineal Resection
Authors: Enver Kunduz, Huseyin Bektasoglu, Samet Yigman, Huseyin Akbulut
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Abdominoperineal resection (APR) is one of the surgical techniques performed for the distal rectal cancer. The perineal herniation is one of the complications of APR surgery. In this report, we aim to demonstrate a rare case of small bowel evisceration and strangulation secondary to the transvaginal herniation evolved in the late stage after perineal hernia repair following laparoscopic APR.
Case Report: Five Adult Cases of H3K27-Altered Diffuse Midline Glioma in the Spinal Cord
Authors: Quanquan Gu, Yajing Huang, Hao Zhang, Biao Jiang
Journal: Front Oncol (2021)
Keywords: cns neoplasm, diffuse midline glioma (dmg), pediatric-type gliomas, radiology, spinal cord
MeSH terms: Case Reports

Background:
Diffuse midline glioma with H3K27-altered (DMG-H3K27a) is a novel tumor entity of the pediatric-type diffuse high-grade tumor in the latest WHO CNS 5. It mostly affects children and is only rarely found in adults. The tumor has a high level of aggressiveness, with a rapid progression and bad prognosis. In adults, the spinal cord is the most common site of DMG-H3K27a. Rare adult cases of primary DMG-H3K27a in the spinal cord were reported in this study, together with clinico-histopathologico-radiographic data.
Methods:
From January 2016 to December 2020, we conducted a retrospective study of five adults with primary DMG-H3K27a in the spinal cord, analyzing their clinical, pathohistological, and radiographic datasets from the first diagnosis to follow-up.
Results:
All five patients were diagnosed for the first time and were given full treatment. In three of the five patients, post-operative follow-up revealed tumor recurrence. The longest survival of the five patients was 45 months at the time of report submission, while the longest progression-free survival (PFS) following surgery was 20 months. Immunohistochemical studies showed the tumors featured aggressive behavior (grade 4) and were positive for the H3K27M mutation. The radiographic appearances were varied, but they were all initially mistaken as benign. DMG-H3K27a in the spinal cord was characterized by isointense/hyperintense on T1WI and isointense/hyperintense on T2WI, as well as cystic necrosis and peripheral spinal cord edema, as well as central canal enlargement and other types of enhancement.
Conclusion:
This is the first case report focusing on adult DMG-H3K27a of the pediatric-type diffuses high-grade gliomas in the spinal cord. In our cases, we discovered the following: 1) adults had a better prognosis with a longer PFS compared with prior pediatric reports; 2) despite aggressive behavior under the microscope, radiographic appearances of the tumors were less aggressive; and 3) adjuvant treatment, including TCM, may have played a role in the prognosis.
Rare Mucinous Adenocarcinoma of the Appendix Undergoing Multiple Recurrent Surgical Interventions
Authors: Usman Ilyas, Zaryab Umar, Amee M Pansuriya, Abrahim Mahmood, Muhammad Haseeb Ul Rasool, Zamaraq Bhatti
Journal: Cureus (2023)
Keywords: appendiceal cancer, cytoreductive surgery and hipec, folfiri, folfox-6, mucinous adenocarcinoma of the appendix, pseudomyxoma peritonei
MeSH terms: Case Reports

Primary appendiceal carcinomas are rare and often found incidentally when the appendix is surgically removed. Adenocarcinoma predominates the histological types of malignancies, with mucinous adenocarcinoma being the most prevalent of the various subtypes. Pseudomyxoma peritonei (PMP), a complication seen in mucinous adenocarcinoma of the appendix (MAA), is the collection of mucinous ascites in the intra-abdominal cavity and the thickening of the surrounding viscera by mucin-producing tumor cells. PMP initially presents with increased abdominal discomfort and girth and, in later stages, presents with obstructive abdomen symptoms. These symptoms are nonspecific and can be a challenge to pinpoint. Such was the case for our patient, in this case report, who initially presented with dyspepsia and later demonstrated compressive symptoms and weight loss, raising concern for malignancy. An appendiceal pathology was of concern when his right lower quadrant pain acutely worsened during an abdominal ultrasound, and imaging and biopsy confirmed MAA with PMP. The aim of this report is to shed light on the management of recurrent MAA. Our patient's recurrent MAA was managed with debulking procedures and three rounds of hyperthermic intraperitoneal chemotherapy (HIPEC) and was managed postoperatively with folinic acid, fluorouracil, and irinotecan (FOLFIRI) and bevacizumab, which in its totality helped achieve a progression-free survival of more than two years. We believe that cytoreduction and intraoperative chemotherapy prolong survival in patients with recurrent disease, as was the case with our patients. Our patient also demonstrated benefit as his disease stabilized after starting bevacizumab; however, more studies need to be performed at a larger scale to show a consistent relationship.
A new modality of treatment for non-united fracture of the humerus in a patient with osteopetrosis: a case report
Authors: Imran Rafiq, Amit Kapoor, David Jc Burton, John F Haines
Journal: J Med Case Rep (2009)

Introduction:
Osteopetrosis introduces technical limitations to the traditional treatment of fracture management that may be minimised with specific pre-operative planning. Extreme care and caution are required when drilling, reaming, or inserting implants in patients with osteopetrosis. Caution must be exercised throughout the postoperative course when these patients are at greatest risk for device failure or further injury.
Case presentation:
We present our experience of treating such a fracture where a patient presented with a non-united fracture of the humerus. The bone was already osteoporotic. We successfully used a new technique which has not been described in the literature before. This included the use of a high-speed drill to prepare the bone for screw fixation. Bone healing was augmented with bone morphogenic protein.
Conclusion:
This technique can give invaluable experience to surgeons who are involved in treating these types of fracture.
Neurologic involvement in scleroderma en coup de sabre
Authors: Tiago Nardi Amaral, João Francisco Marques Neto, Aline Tamires Lapa, Fernando Augusto Peres, Caio Rodrigues Guirau, Simone Appenzeller
Journal: Autoimmune Dis (2012)

Localized scleroderma is a rare disease, characterized by sclerotic lesions. A variety of presentations have been described, with different clinical characteristics and specific prognosis. In scleroderma en coup de sabre (LScs) the atrophic lesion in frontoparietal area is the disease hallmark. Skin and subcutaneous are the mainly affected tissues, but case reports of muscle, cartilage, and bone involvement are frequent. These cases pose a difficult differential diagnosis with Parry-Romberg syndrome. Once considered an exclusive cutaneous disorder, the neurologic involvement present in LScs has been described in several case reports. Seizures are most frequently observed, but focal neurologic deficits, movement disorders, trigeminal neuralgia, and mimics of hemiplegic migraines have been reported. Computed tomography and magnetic resonance imaging have aided the characterization of central nervous system lesions, and cerebral angiograms have pointed to vasculitis as a part of disease pathogenesis. In this paper we describe the clinical and radiologic aspects of neurologic involvement in LScs.
Oncoplastic Reduction Pattern Technique Following Removal of Giant Fibroadenoma
Authors: Andrea Hiller, Thomas J Lee, Joshua Henderson, Nicolas Ajkay, Bradon J Wilhelmi
Journal: Eplasty (2018)
Keywords: wise-pattern reduction, breast, giant fibroadenoma, oncoplastic, reconstruction
MeSH terms: Case Reports

Objective: Oncoplastic surgery was developed to allow for large tumor excision and immediate breast reconstruction with the goal of optimal breast shape and symmetry. Although initially used in women who underwent lumpectomy for breast malignancy, these techniques can be useful for cosmetic issues caused by benign breast disease. We describe a modification of an inferior pedicle with Wise-pattern reduction mammoplasty for oncoplastic reconstruction of a giant fibroadenoma. Methods: A 30-year-old woman with size 32 DD breasts was referred by the surgical oncologist with a biopsy-proven fibroadenoma of the right breast. Surgical oncology excised the mass, and immediate reconstruction was performed with an inferolateral pedicle Wise-pattern reduction technique. Results: Immediately postoperatively, the patient showed excellent symmetry. Follow-up postoperatively showed good wound healing, preserved symmetry, and a viable, sensate nipple. Conclusions: Oncoplastic breast reconstruction in a reduction pattern technique after giant fibroadenoma removal provides an excellent outcome, allowing for improved symmetry.
Non-islet Cell Hypoglycemia: Case Series and Review of the Literature
Authors: Vishnu Garla, Hardik Sonani, Venkatraman Palabindala, Celso Gomez-Sanchez, Jose Subauste, Lillian Francis Lien
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: igf-2 induced hypoglycemia, gastrointestinal stromal tumor, hepatocellular carcinoma, hypoglycemia, non-islet cell hypoglycemia
MeSH terms: Case Reports

Non-islet cell hypoglycemia (NICH) is hypoglycemia due to the overproduction of insulin-like growth factor-2 (IGF-2) and its precursors which can activate the insulin receptor. Typically, large mesenchymal and epithelial tumors can cause NICH. Diagnosis is confirmed by finding an elevated IGF-2/IGF-1 ratio. The mainstay of treatment is surgical excision. Glucocorticoids may be used in cases where surgery is not possible. We present two cases of NICH with different outcomes. A 33-year-old male patient admitted with altered mental. He was found walking naked outside his house. Laboratory assessment revealed severe hypoglycemia. Further evaluation showed low levels of insulin, C-peptide, and beta-hydroxybutyrate along with an elevated IGF-2/IGF-1 ratio confirming the diagnosis of NICH. Computed tomography (CT) of the abdomen showed a massive tumor of the liver consistent with hepatocellular carcinoma. Since the patient refused surgery, he was started on prednisone however the hypoglycemia persisted. A 54-year-old female patient with a history of type 2 diabetes mellitus (DM) admitted with recent onset hypoglycemia. Despite stopping her insulin, she continued to have hypoglycemia necessitating the administration of high concentrations of intravenous dextrose. Further evaluation showed low levels of insulin, C-peptide, and beta-hydroxybutyrate along with an elevated IGF-2/IGF-1 ratio consistent with the diagnosis of NICH. CT abdomen showed a 24 cm tumor near the uterus. The pathology was consistent with a gastrointestinal stromal tumor (GIST). After surgical excision of the tumor, the hypoglycemia resolved.
Primary osteosarcoma of the urinary bladder following cyclophosphamide therapy for systemic lupus erythematosus: a case report
Authors: Dilek Ertoy Baydar, Cigdem Himmetoglu, Sertac Yazici, Halil Kiziloz, Haluk Ozen
Journal: J Med Case Rep (2009)

Introduction:
The association of systemic lupus erythematosus with malignancies is an uncommon occurrence. We present the case of an osteosarcoma of the urinary bladder developing in a patient with a prolonged history of active systemic lupus erythematosus. This is a previously unreported association. Primary osteosarcoma is an extremely rare disease in the urinary bladder.
Case presentation:
A 24-year-old Caucasian woman with a 13-year history of systemic lupus erythematosus, who had been treated with high dose immunosuppressive agents, presented with pain and hematuria. A deeply invasive high-grade tumor was detected in the urinary bladder and the patient underwent radical surgery. A diagnosis of osteosarcoma was made based on the characteristic histology.
Conclusion:
Predisposing factors for primary sarcomas in the urinary bladder are mostly unknown; however, in our case, long-term administration of immunosuppressive agents, as well as long standing systemic lupus erythematosus, may both be of significance.
Hemolytic Crisis following Naphthalene Mothball Ingestion in a 21-Month-Old Patient with Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
Authors: Maricel Dela Cruz, Muhammad Masood Khalid, Ahmed Mostafa, Muhammed Ershad, David Vearrier, Rita McKeever
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Introduction:
Naphthalene is an aromatic hydrocarbon that may be found in mothballs and deodorizers. Exposure can occur by ingestion or dermal absorption. We present a case of acute hemolysis requiring blood transfusion in a 21-month-old male with a history of glucose-6-phosphate dehydrogenase (G6PD) deficiency after ingestion of a naphthalene-containing mothball.
Case presentation:
A 21-month-old male with G6PD deficiency presented to the emergency department three hours following an exploratory ingestion of a naphthalene-containing mothball. On arrival, the patient was tachycardic with normal blood pressure, temperature, respiratory rate, and oxygen saturation. Initial laboratory studies showed significant anemia with elevated reticulocyte count, blood urea nitrogen, total bilirubin, and lactate dehydrogenase. Haptoglobin level was low, and the methemoglobin level was unremarkable. The patient was admitted to the pediatric intensive care unit and underwent blood transfusion.
Discussion:
This case serves as a reminder that mothballs, a ubiquitous household item, can be hazardous when accessible to vulnerable children. Care should be taken to secure these products and prevent ingestion.
Clozapine-Induced Phototoxicity: An Unusual Side Effect of Atypical Antipsychotics
Authors: S Al-Aojan, A Al-Khalifah
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

Introduction:
Clozapine is a second-generation antipsychotic used for treatment-refractory schizophrenia. Photosensitivity is a major concern when prescribing typical antipsychotics, while atypical antipsychotics are thought to be less photosensitive.
Case report:
We report a 27-year-old military personnel who developed a phototoxic drug reaction after using clozapine for schizophrenia.
Conclusion:
Recognition of rare but possible ability of atypical antipsychotics to cause photosensitivity is pertinent to patients care and proper counseling.
Air-Leak Syndrome with Spontaneous Tension Pneumothorax and Pneumomediastinum Caused by Bleomycin-Induced Organizing Pneumonia
Authors: Cedric Vanmarcke, Thomas Steelandt, Anne-Sophie Vliegen
Journal: J Belg Soc Radiol (2022)
Keywords: masson bodies, air leak syndrome, bleb, bleomycin, organizing pneumonia, pneumatocele, pneumomediastinum, pneumothorax
MeSH terms: Case Reports

Teaching Point: The appearance of pneumatoceles in a patient with organizing pneumonia is an early sign of leak syndrome and is a significant finding as its rupture can lead to a life-threatening tension pneumothorax. Air leak syndrome (ALS), consisting of pneumothorax, subcutaneous emphysema and pneumomediastinum, is a rare complication of organizing pneumonia (OP). We report a case of a patient with bleomycin-induced OP who develops a tension pneumothorax due to a ruptured pneumatocele caused by ALS and correlate with histopathological analysis. This is the third case in the literature with these findings and the first with a tension pneumothorax.
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy
Authors: Yabin Chen, Xiaoyun Jia, Panfeng Wang, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang
Journal: Mol Vis (2013)
MeSH terms: GTP Phosphohydrolases / genetics, Mutation, Optic Atrophy, Autosomal Dominant / genetics, Case Reports, Research Support, Non-U.S. Gov't, Asian People / genetics, Base Sequence, Child, Preschool, China, Codon, Nonsense, Cohort Studies, DNA / genetics, DNA Mutational Analysis, Female, Frameshift Mutation, Genetic Carrier Screening, Humans, Male, Mutation, Missense, Pedigree, Phenotype, Protein Isoforms / genetics, Codon, Nonsense, Protein Isoforms, DNA, GTP Phosphohydrolases, OPA1 protein, human

Purpose:
Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy.
Methods:
A cohort of 193 Chinese families with suspected hereditary optic neuropathy was collected, which had been excluded from the three common primary mitochondrial DNA mutations associated with Leber hereditary optic neuropathy in our prior screening. Sanger sequencing was used to analyze variants in the coding and adjacent regions of OPA1.
Results:
In this study, 11 heterozygous OPA1 mutations, among which eight were novel and three were known, were identified in 12 of the 193 families (6.2%) but in none of the 192 control individuals. These novel mutations consisted of two nonsense mutations (p.E707* and p.K797*), two missense mutations (p.T330S and p.V377I), two deletions (p.S64fs and p.L331fs), one small insertion (p.L17fs), and one splice site mutation (c.2614-2A>G). Of the 12 families, three had a family history of optic neuropathy while nine were sporadic cases. Analysis of the family members in the two sporadic cases demonstrated that one parent in each of the two families had the OPA1 mutation and mild phenotype of optic atrophy. A 4-year-old boy with severe ocular phenotype was found to be compound heterozygous for two OPA1 mutations, a p.S64fs frameshift deletion and a p.V377I missense mutation, possibly implying an additive effect.
Conclusions:
This study implies that the frequency of DOA is much lower than that of Leber hereditary optic neuropathy in Chinese compared with other ethnic groups. Lack of awareness of the mild phenotype of DOA may contribute to the low frequency of OPA1-related DOA in Chinese. The phenotype associated with compound heterozygous OPA1 mutations may suggest a possible addictive effect.
Extremely Preterm (23 Weeks) Vaginal Cephalic Delivery En Caul and Subsequent Postpartum Intraventricular Hemorrhage and Respiratory Distress: A Teaching Case
Authors: Rohail Malik, Adil Sarfraz, Raihan Faroqui, William Onyebeke, Jeffrey Wanerman
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

En caul deliveries are defined as a fetus that is delivered completely contained within an amniotic sac and are considered to be less common than 1 in 80,000 live births. Vaginal en caul births compared to abdominal or cesarean are the rarest subtype. Most en caul births are associated with prematurity and low gravida. The combination of prematurity, high gravida, vaginal en caul birth, and severe postpartum complications has not previously been described. We report a woman with gravida of 12 delivering vaginally a neonate female en caul at the extremely preterm gestational age of 23 weeks. The neonate subsequently decompensated, underwent respiratory distress, and was diagnosed with a bilateral intraventricular hemorrhage. Owing to deteriorating status, supportive care was removed and the infant was pronounced dead 5 days after delivery.
Meningeal TB in a 39-Year-Old Male Presenting with Headache
Authors: Jason Selinger, Thar El Baage
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Meningeal tuberculosis is rare in the developed world, with only 92 cases of meningeal TB reported in the United States in 2014 according to the CDC (CDC, 2015). We describe the case of a 39-year-old male with a history of alcohol abuse, whose cerebral spinal fluid acid fast smears confirmed TB only weeks after his death. His only initial presenting symptom was headache, and his condition declined rapidly during his hospitalization.
Translational treatment of aphasia combining neuromodulation and behavioral intervention for lexical retrieval: implications from a single case study
Authors: Elizabeth E Galletta, Amy Vogel-Eyny
Journal: Front Hum Neurosci (2015)
Keywords: aphasia, lexical retrieval, neuromodulation, tdcs, treatment

Background:
Transcranial direct current stimulation (tDCS), a non-invasive method of brain stimulation, is an adjunctive research-therapy for aphasia. The concept supporting translational application of tDCS is that brain plasticity, facilitated by language intervention, can be enhanced by non-invasive brain stimulation. This study combined tDCS with an ecologically focused behavioral approach that involved training nouns and verbs in sentences.
Participant:
A 43-year-old, right-handed male with fluent-anomic aphasia who sustained a single-left-hemisphere-temporal-parietal stroke was recruited.
Treatment:
Instrumentation included the Soterix Medical 1 × 1 Device. Anodal tDCS was applied over Broca's area. Behavioral materials included: sentence production, naming in the sentence context, and implementation of a social-conversational-discourse treatment.
Design and procedures:
The independent variable of this crossover case-study was tDCS, and the dependent variables were language and quality-of-life measures. In each session the subject received language treatment with the first 20 minutes additionally including tDCS.
Results:
Performance in naming nouns and verbs in single words and sentences were obtained. Verb production in the sentence context increased after active anodal tDCS and speech-language treatment.
Conclusion:
Aphasia treatment that involves naming in the sentence context in conjunction with translational application of tDCS may be a promising approach for language-recovery post stroke.