OpenMed/multicare-articles huggingface dataset:
Surgically induced scleral necrosis associated with concomitant tuberculosis infection: a diagnostic challenge
Authors: Raul E Ruiz-Lozano, Alejandro Rodriguez-Garcia, Maria F Colorado-Zavala, Carlos Alvarez-Guzman
Journal: GMS Ophthalmol Cases (2023)
Keywords: antitubercular therapy, infectious scleritis, necrotizing scleritis, ocular tuberculosis, pterygium surgery, scleral inflammation, surgically induced scleral necrosis
MeSH terms: Case Reports

Objective:
Surgically induced scleral necrosis (SISN) is a potentially blinding sequela that may occur after any ocular procedure. SISN in the context of active tuberculosis is seldom seen. We report a case of a patient with asymptomatic tuberculosis who developed SISN after pterygium surgery.
Methods:
A 76-year-old Mexican-mestizo woman from Veracruz, Mexico, was referred to our clinic because of severe disabling pain and scleral thinning in her right eye.
Results:
Tubercular-related SISN was finally diagnosed and managed successfully with antitubercular therapy, topical and systemic corticosteroids.
Conclusion:
Tuberculosis must be considered as a differential diagnosis of high-risk patients in the context of refractory SISN in endemic countries.
Successful surgical repair of a sternum cleft using composite mesh: A case report and new technical note
Authors: N N M Razafimanjato, G O Tsiambanizafy, T D N Ravelomihary, H J L Rakotovao, F A Hunald
Journal: Afr J Thorac Crit Care Med (2021)
Keywords: bifid sternum, chest wall deformity, congenital abnormality, laparoschisis, pentalogy of cantrell syndrome, sternal clef
MeSH terms: Case Reports

Sternal clefts are infrequent congenital malformations, particularly in their complete presentation. There are less than 100 descriptions of these defects published in the literature worldwide. We report a clinical case of lower sternal cleft associated with congenital laparoschisis in a 2-year-old boy. Surgery was performed because of recurrent pneumopathy and the risk of cardiorespiratory decompensation in the midterm. A semi-resorbable prosthesis was used for sternal closure. We have not observed any complications with this sternal closure system in our patient. This approach is easy, safe, effective and not harmful to a child's growth.
The use of stereotactic body radiation therapy for local control of glomangiomatosis: a case report
Authors: Zachary D Horne, Sana D Karam, Abdul Rashid, J W Snider, Allison Lax, Metin Ozdemirli, K W Harter
Journal: Front Oncol (2013)
Keywords: sbrt, glomangiomatosis, glomus tumor, stereotactic body radiation therapy, stereotactic body radiotherapy

The vast majority of glomangiomas are small, benign neoplasms that can occur anywhere in the body but typically arise in the subcutaneous tissues of the extremities and are capable of causing extreme pain. Typically, these lesions are managed surgically with excellent rates of tumor control. On occasion, patients present with a variant of the glomangioma tumor consisting of numerous or recurrent nodules, a condition classified as glomangiomatosis. The authors present a case report of a young patient with multiply recurrent painful glomangiomas of the left foot, who was ultimately diagnosed with glomangiomatosis pedis. After multiple surgeries and surgical consultations, no surgery other than amputation was recommended. Therefore, the patient sought consultation with regard to stereotactic body radiation therapy (SBRT). In the absence of other options, and based on its effectiveness in treating glomus tumors of the head and neck which display similar natural history and histologic features, SBRT was offered. The patient underwent SBRT to the largest of his remaining tumors with excellent local control and significant reduction in pain at two and a half years follow-up.
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report
Authors: Elisa Gelli, Chiara Fallerini, Floriana Valentino, Annarita Giliberti, Francesca Castiglione, Lucrezia Laschi, Maria Palmieri, Alessandra Fabbiani, Rossella Tita, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Journal: Front Oncol (2020)
Keywords: rb1, hypomorphic variant, ovarian cancer, tumor predisposition, yolk sac tumor
MeSH terms: Case Reports

Malignant ovarian germ cell tumors (MOGCTs) are neoplasms of the ovary, of which, due to their rarity and heterogeneity, few is reported about genetic background and development. Here, we report a 18-years old patient diagnosed with an ovarian mixed germ cell tumor, without any previous history of malignancies, who has been treated with surgery and chemotherapy and died 4 years later due to peritoneal metastasis complications. Patient's blood DNA was screened for a panel of 52 cancer-related genes in order to identify predisposing aberrations to this rare cancer. The analysis discovered the uncharacterized c.2393G>A variant in RB1, the retinoblastoma gene, leading both to a missense change and a splicing perturbation of the RB1 transcript. The variant was found to be hypomorphic, damaging the C-terminal domain with a partially impaired protein function. The variant is inherited from the unaffected mother. Due to an imprinting mechanism, the maternal allele is ~3-fold more expressed than the paternal one. The parent-of-origin effect combined with the hypomorphic impact of the variant determines a rescue of sufficient tumor-suppressor activity to prevent retinoblastoma development but can predispose to other cancers in the adult age. In order to understand the somatic events acting on the germline predisposition we used the NGS-liquid biopsy covering 77 cancer driver genes. Using this approach, we detected deleterious mutations in TP53, SMAD4, FGFR3, and MSH2, indicative of a dis-regulation of cell cycle and DNA repair mechanisms pathways. In conclusion, we have pinpointed for the first time that an RB1 leaky variant, not leading to retinoblastoma because of its maternal origin, can predispose in adults to a very rare form of ovarian cancer and that the somatic disruption of few genes contributes to the tumor progression and aggressiveness.
Decreased Expression of Ileal Thyroid Hormone Transporters in a Hypothyroid Patient: A Case Report
Authors: Chae Won Chung, Eun Young Mo, Gyung Seo Jung, Yoo Hyung Kim, Sun Wook Cho, Do Joon Park, Jeong Mo Bae, Young Joo Park
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: hypothyroidism, immunohistochemistry, levothyroxine absorption test, malabsorption of levothyroxine, thyroid hormone transporter
MeSH terms: Adaptor Proteins, Signal Transducing / metabolism, Hypothyroidism / drug therapy, Large Neutral Amino Acid-Transporter 1 / metabolism, Malabsorption Syndromes / diagnosis, Thyroxine / pharmacokinetics, Case Reports, Adaptor Proteins, Signal Transducing / genetics, Adult, Case-Control Studies, Female, Humans, Hypothyroidism / metabolism, Hypothyroidism / pathology, Large Neutral Amino Acid-Transporter 1 / genetics, Malabsorption Syndromes / genetics, Malabsorption Syndromes / metabolism, Prognosis, Thyroxine / therapeutic use, Tissue Distribution, Young Adult, Adaptor Proteins, Signal Transducing, LAT2 protein, human, Large Neutral Amino Acid-Transporter 1, SLC7A5 protein, human, Thyroxine

Background:
Malabsorption of levothyroxine (LT4) is a common problem faced in clinical practice. It is usually solved, if there are no complexities including gastrointestinal absorption disorder, by taking medicines on an empty stomach and avoiding foods interfering with LT4. Herein we present a rare case of a patient exhibiting malabsorption of LT4 with decreased membranous expression of ileal transporters.
Case:
The 22-Year-old female presented with sustained hypothyroid status despite medication of 7.8 μg/kg LT4. Medical history and LT4 absorption test (the absorption rate 8.4%) excluded pseudomalabsorption. No organic gastrointestinal disorder was found in the patient by blood chemistry, endoscopies, and abdominal computed tomography scan. The immunohistochemical analysis showed decreased membranous expression of LAT1 and LAT2 in distal ileum and ascending colon in the patient compared to 20 controls who have no thyroid disease. The expression of MCT8 in colon appeared at both nucleus and brush border in the patient, while it was limited to brush border in controls. The expression of other transporters was similar between the patient and controls.
Conclusion:
The changes of the expression of LAT1 and LAT2 in this patient showing LT4 malabsorption might help to understand the role of intestinal transporters in the absorption of LT4 in humans. The functional relevance of the decrement of LAT1 and LAT2 in this patient remains to be elucidated.
Autologous platelet lysates local injections for treatment of tibia non-union with breakage of the nickelclad: a case report
Authors: Hong-Jiang Jiang, Xun-Xiang Tan, Hai-Yang Ju, Jin-Ping Su, Wei Yan, Xiu-Gang Song, Li-Wu Qin, Chang-Jun Ju, Ling-Shuang Wang, De-Bao Zou
Journal: Springerplus (2016)
Keywords: autologous platelet lysates, non-union, percutaneous injections, tibia and fibula fracture

Background:
Nonunions of the tibia represent challenging orthopedic problems, which require the surgeon to analyze numerous factors and choose an appropriate treatment. This article presents a case report of tibia and fibula fracture patient who failed the internal fixation surgery and successfully recovered after one course of percutaneous autologous platelet lysates injection.
Case description:
The patient received an internal nickelclad breakage at 9 months post-surgery but reluctant to accept a second surgery, then autologous platelet lysates (APL) injection which is a less invasive method was recommended. The injections were carried once a week for three times. Radiologic evaluation was conducted every month until recovery.
Discussion and evaluation:
To the best of our knowledge, this is the first reported case of tibia delayed union with breakage of the plate resolved with APL injection. Improved clinical evidence was observed at 4 and 6 months after injection. The patient got good bony union at 8 months post-injection. The patient didn't feel any discomfort postinjection, no complications such as infection, refracture etc. were observed.
Conclusions:
APL percutaneous injection could be a new therapeutic option for the treatment of nonunion or delayed healing fractures.
Computer-aided design/computer-aided manufacturing of hydroxyapatite scaffolds for bone reconstruction in jawbone atrophy: a systematic review and case report
Authors: Umberto Garagiola, Roberto Grigolato, Rossano Soldo, Marco Bacchini, Gianluca Bassi, Rachele Roncucci, Sandro De Nardi
Journal: Maxillofac Plast Reconstr Surg (2016)
Keywords: computer-aided design/computer-aided manufacturing, hydroxyapatite, review, scaffold
MeSH terms: Review

Background:
We reviewed the biological and mechanical properties of porous hydroxyapatite (HA) compared to other synthetic materials. Computer-aided design/computer-aided manufacturing (CAD/CAM) was also evaluated to estimate its efficacy with clinical and radiological assessments.
Method:
A systematic search of the electronic literature database of the National Library of Medicine (PubMed-MEDLINE) was performed for articles published in English between January 1985 and September 2013. The inclusion criteria were (1) histological evaluation of the biocompatibility and osteoconductivity of porous HA in vivo and in vitro, (2) evaluation of the mechanical properties of HA in relation to its porosity, (3) comparison of the biological and mechanical properties between several biomaterials, and (4) clinical and radiological evaluation of the precision of CAD/CAM techniques.
Results:
HA had excellent osteoconductivity and biocompatibility in vitro and in vivo compared to other biomaterials. HA grafts are suitable for milling and finishing, depending on the design. In computed tomography, porous HA is a more resorbable and more osteoconductive material than dense HA; however, its strength decreases exponentially with an increase in porosity.
Conclusions:
Mechanical tests showed that HA scaffolds with pore diameters ranging from 400 to 1200 μm had compressive moduli and strength within the range of the human craniofacial trabecular bone. In conclusion, using CAD/CAM techniques for preparing HA scaffolds may increase graft stability and reduce surgical operating time.
Pregnancy in a Transgender Male: A Case Report and Review of the Literature
Authors: Ayesha Hassan, Jessica Perini, Amna Khan, Apoorva Iyer
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Introduction:
Pregnancy in transgender men is an area of increasing study due to data showing that pregnancy can occur in this population despite the reduction in fertility that generally accompanies treatment with gender-affirming hormone therapies.
Case:
In this case, we describe a healthy 21-year-old transgender man who was able to achieve pregnancy without reproductive assistance after stopping his testosterone therapy for 2 months. Discussion. Our case is important as it highlights how little is known in regards to gender-affirming hormone therapy on fertility. While testosterone is known to reduce fertility by inducing anovulation and altering ovarian histology, its long-term effects on conception rates and pregnancy are largely unknown. Some studies demonstrate that transgender men, treated with gender-affirming hormone therapy (GAHT), including testosterone, have similar oocyte quantity and quality, as well as similar ovarian reserve, when compared to cisgender women, suggesting that resumption of fertility may be possible after cessation of GAHT. Long-term outcomes for the pregnancy and the offspring of those who have been treated with GAHT are unknown.
Conclusion:
Recent studies have shown that pregnancy is possible for transgender men who desire biological children and have received gender-affirming hormonal therapy without fertility-preserving measures. Further research is needed to help determine rates of fertility, the likelihood of recovery of fertility, conception rates, and long-term pregnancy outcomes. Such information would help guide physicians in providing education and counseling to their transgender patients regarding reproductive options.
LMO7-ALK Fusion in a Lung Adenocarcinoma Patient With Crizotinib: A Case Report
Authors: Yanlong Yang, Hongbo Zheng, Zizhe Li, Shuchen Shi, Lang Zhong, Longlong Gong, Bin Lan
Journal: Front Oncol (2022)
Keywords: lmo7-alk fusion, luad, nsclc, case report, crizotinib
MeSH terms: Case Reports

Background:
Rearrangements of the anaplastic lymphoma kinase (ALK) gene comprise a small subset of non-small cell lung cancer (NSCLC). Patients with NSCLC harboring ALK fusion proteins are sensitive to ALK tyrosine kinase inhibitors (TKIs). Various fusion partners of ALK are being discovered with the application of next-generation sequencing (NGS).
Case presentation:
Here, we report a female patient with metastatic lung adenocarcinoma harboring LMO7-ALK (L15, A20) rearrangement revealed by NGS. The patient received crizotinib as first-line treatment and has achieved partial response with a progression-free survival over 1 year.
Conclusions:
We firstly found that the satisfactory response to crizotinib verified the oncogenic activity of LMO7-ALK fusion. Great progression and wide application of NGS facilitate the findings of rare fusion types.
Case report: Sudden unexpected death due to tuberculous myocarditis involving sinus node at autopsy
Authors: Le Zhang, He Yan, Yufang Wang, Feijun Huang
Journal: Front Cardiovasc Med (2023)
Keywords: mycobacterium tuberculosis, myocardial tuberculosis, pulmonary tuberculosis, sinus node, tuberculous myocarditis
MeSH terms: Case Reports

Tuberculous myocarditis (TM) is an extremely rare manifestation of Mycobacterium tuberculosis (TB) infection. Although TM is a critical cause of sudden cardiac death, only a few cases have been reported. We report the case of an older patient with pulmonary TB with a history of fever, chest tightness, paroxysmal palpitations, and electrocardiographic evidence of sinus node conduction abnormalities on admission. Although emergency physicians observed these unusual clinical manifestations, no timely differential diagnosis was made nor interventions were performed. A definitive diagnosis of TM and histopathological findings compatible with sinus node involvement were made based on autopsy outcomes. Herein, we describe the clinical presentation and pathological features of a rare form of Mycobacterium TB. In addition, we provide an overview of issues related to the diagnosis of myocardial TB.
Spatial hyperschematia without spatial neglect after insulo-thalamic disconnection
Authors: Arnaud Saj, Juliane C Wilcke, Markus Gschwind, Héloïse Emond, Frédéric Assal
Journal: PLoS One (2013)
MeSH terms: Cerebral Cortex / physiopathology, Perceptual Disorders / physiopathology, Space Perception, Thalamus / physiopathology, Case Reports, Research Support, Non-U.S. Gov't, Aged, 80 and over, Brain / pathology, Female, Functional Laterality, Humans, Magnetic Resonance Imaging, Neuropsychological Tests, Perceptual Disorders / diagnosis

Different spatial representations are not stored as a single multipurpose map in the brain. Right brain-damaged patients can show a distortion, a compression of peripersonal and extrapersonal space. Here we report the case of a patient with a right insulo-thalamic disconnection without spatial neglect. The patient, compared with 10 healthy control subjects, showed a constant and reliable increase of her peripersonal and extrapersonal egocentric space representations - that we named spatial hyperschematia - yet left her allocentric space representations intact. This striking dissociation shows that our interactions with the surrounding world are represented and processed modularly in the human brain, depending on their frame of reference.
Epidural anesthesia for laparoscopic bariatric surgery: a case report
Authors: Wei-Chun Hung, Wei-Hung Chen, Yu-Hsuan Shih, Kuo-Chuan Hung
Journal: Springerplus (2015)
Keywords: epidural anesthesia, laparoscopic bariatric surgery, obesity

Background:
Rapid and uneventful postoperative recovery following general anesthesia in morbidly obese patients undergoing bariatric surgery may offer challenges to anesthesiologists. With improved surgical techniques and shorter pneumoperitoneum, regional anesthesia may be considered for this laparoscopic procedure in selected cases.
Case description:
The first patient was a 60-year-old male (body mass index: 39 kg/m(2)) who was scheduled for laparoscopic sleeve gastrectomy. The second patient was a 46-year-old female (body mass index: 47 kg/m(2)) who was scheduled for laparoscopic gastric bypass. After standard intraoperative monitoring was applied, epidural anesthesia was performed at thoracic level T9-T10. Surgical technique modification included insufflation of CO2 at a low flow rate and avoidance of orogastric tube use. During the procedure, both patients breathed spontaneously without difficulty. One hypotension episode occurred and was successfully treated with a 12-mg bolus of ephedrine in case 1. Shoulder pain occurred intraoperatively in case 2 and was successfully treated with a 50-μg bolus of fentanyl. Postoperatively, 2 mg epidural morphine was administered for postoperative analgesia. Both patients were satisfied with the anesthesia technique and was discharged uneventfully.
Discussion and evaluation:
This anesthetic technique may maintain pre-operative respiratory function, increase alertness, and reduce the use of rescue analgesics, which is crucial for optimal outcomes in morbidly obese patients. Conversion of epidural anesthesia to general anesthesia may be required if patients can not tolerate the laparoscopic procedure (e.g. intolerable shoulder pain) or the increased respiratory rate during pneumoperitoneum leading to difficulty in performing laparoscopic surgery. Further studies are needed to elucidate this issue.
Conclusions:
General anesthesia is widely used for laparoscopic bariatric surgery, but epidural anesthesia may be a viable alternative to general anesthesia in selected cases. Further prospective studies may be required to elucidate the relative advantages and disadvantages of epidural anesthesia in this surgical population.
Nontuberculous mycobacteria by metagenomic next-generation sequencing: Three cases reports and literature review
Authors: Ying Liu, Xiaoxu Ma, Jiajun Chen, Huifen Wang, Zujiang Yu
Journal: Front Public Health (2022)
Keywords: diagnose, mngs, nontuberculous mycobacteria, nontuberculous mycobacterial lung disease, treatment
MeSH terms: High-Throughput Nucleotide Sequencing, Nontuberculous Mycobacteria / genetics, Review, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Immunocompromised Host, Microbiological Techniques

Background:
The increasing worldwide incidence of nontuberculous mycobacterial lung disease (NTM-LD) and the similarity of its manifestations to those of tuberculosis (TB) pose huge challenges in the diagnosis and treatment of NTM-LD, which is commonly misdiagnosed and mistreated as TB. Proper diagnosis and treatment at an early stage can greatly improve patient outcomes.
Case presentation:

Mycobacterium avium was identified by mNGS in lung tissue of case 1 and bronchioalveolar fluid from case 2 that was not identified using conventional microbiological methods. Multiple NTM species were detected in the blood mNGS samples from case 3 who had disseminated NTM infection. Although NTM was isolated from blood culture, conventional methods failed to identify the organisms to the level of species. All three patients were suffering from and being treated for myelodysplastic syndrome, rheumatoid arthritis, systemic lupus erythematosus, or acute lymphoblastic leukemia, making them immunosuppressed and susceptible to NTM infections. Case 1 and Case 2 significantly improved after anti-NTM treatment, but case 3 succumbed to the infection due to her underlying medical illness despite aggressive treatment.
Conclusions:
The cases in this study demonstrate the effectiveness of mNGS in facilitating and improving the clinical diagnosis of NTM infections. We propose combining mNGS with traditional diagnostic methods to identify pathogens at the early stages of the disease so that targeted treatment can be implemented.
Successful management of insulin allergy and autoimmune polyendocrine syndrome type 4 with desensitization therapy and glucocorticoid treatment: a case report and review of the literature
Authors: Joselyn Rojas, Marjorie Villalobos, María Sofía Martínez, Mervin Chávez-Castillo, Wheeler Torres, José Carlos Mejías, Edgar Miquilena, Valmore Bermúdez
Journal: Case Reports Immunol (2014)

Introduction. Insulin allergy is a rare complication of insulin therapy, especially in type 1 diabetes mellitus (T1DM). Key manifestations are hypersensitivity-related symptoms and poor metabolic control. T1DM, as well as insulin allergy, may develop in the context of autoimmune polyendocrine syndrome (APS), further complicating management. Case Report. A 17-year-old male patient, diagnosed with T1DM, was treated with various insulin therapy schemes over several months, which resulted in recurrent anaphylactoid reactions and poor glycemic control, after which he was referred to our Endocrinology and Immunology Department. A prick test was carried out for all commercially available insulin presentations and another insulin scheme was designed but proved unsuccessful. A desensitization protocol was started with Glargine alongside administration of Prednisone, which successfully induced tolerance. Observation of skin lesions typical of vitiligo prompted laboratory workup for other autoimmune disorders, which returned positive for autoimmune gastritis/pernicious anemia. These findings are compatible with APS type 4. Discussion. To our knowledge, this is the first documented case of insulin allergy in type 4 APS, as well as this particular combination in APS. Etiopathogenic components shared by insulin allergy and APS beg for further research in immunogenetics to further comprehend pathophysiologic aspects of these diseases.