OpenMed/multicare-articles huggingface dataset:
A Pituitary Carcinoma Patient With Cerebrospinal Fluid Dissemination Showing a Good Response to Temozolomide Combined With Whole-Brain and Spinal Cord Radiotherapy: A Case Report and Literature Review
Authors: Peng Du, Xuefan Wu, Kun Lv, Ji Xiong, Daoying Geng
Journal: Front Oncol (2022)
Keywords: case report, pituitary adenoma, pituitary carcinoma, pituitary tumor, temozolomide, whole-brain and spinal cord radiotherapy
MeSH terms: Case Reports

Pituitary carcinoma (PC) is extremely rare, with its incidence only accounting for 0.1%-0.2% of pituitary tumor (PT). Existing histological features, including invasiveness, cellular pleomorphism, nuclear atypia, mitosis, necrosis, etc., can be observed in pituitary adenoma (PA), invasive PA (IPA) and PC. Invasion is not the basis for the diagnosis of PC. The diagnosis of PC is often determined after the metastases are found, hence early diagnosis is extraordinarily difficult. Owing to the conventional treatment for PC may not be effective, a large portion of patients survived less than one year after diagnosis. Therefore, it is of great significance to find an efficacious treatment for PC. We report a rare case of sparsely granulated somatotroph carcinoma with cerebrospinal fluid dissemination showing a favorable treatment response to temozolomide (TMZ) combined with whole-brain and spinal cord radiotherapy.
Fungal Endocarditis: A Rare Cause of Left Ventricular Outflow Obstruction
Authors: Elia El Hajj, Alexander Glaser, David Yancey, Allen Byl, Mehnaz Rahman
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: antifungals, candida metapsilosis, endocarditis, surgical intervention
MeSH terms: Endocarditis / diagnosis, Endocarditis / diagnostic imaging, Heart Valve Diseases, Ventricular Outflow Obstruction, Left, Case Reports, Administration, Intravenous, Anti-Bacterial Agents, Humans, Male, Middle Aged, Anti-Bacterial Agents

A 53-year-old male presented with worsening fever, chest pain, and dyspnea during the past 2 weeks. He was hypoxic, tachycardic, and hypotensive on admission. Labs were notable for high-sensitivity troponin of 657 pg/mL and B-type natriuretic peptide of 1,648 pg/mL. Chest imaging was consistent with acute respiratory distress syndrome. Transthoracic echocardiography revealed an ejection fraction of 30% to 35% and a mobile 1.5 cm x 1.6 cm hyperechoic mass on the ventricular surface of the aortic valve (AV) with left ventricular outflow obstruction and mean pressure gradient of 38.7 mm Hg and maximum velocity of 3.64 m/s. The patient was initiated on empiric antibiotic and antifungal therapy. Cardiothoracic surgery was consulted for urgent AV repair. Blood cultures were positive for Candida metapsilosis, and intravenous fluconazole and micafungin were initiated. Despite aggressive and prompt medical management, the patient sustained cerebral embolic events in the middle cerebral artery territory and passed away.
Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report
Authors: Ling Hou, Lu Yin, Yubin Wu, Chengguang Zhao, Yue Du
Journal: Front Pediatr (2021)
Keywords: tbc1d8b, nephrotic syndrome, podocyte slit diaphragm protein, steroid-resistant nephrotic syndrome, steroid-sensitive nephrotic syndrome
MeSH terms: Case Reports

A structural abnormality or dysfunction of podocytes is the major cause of nephrotic syndrome (NS). The TBC1D8B protein interacts with nephrin, a podocyte slit diaphragm protein, regulates vesicle transport, and functions in the pathogenesis of NS. We report a novel potentially pathogenic variant in the TBC1D8B gene in a 6-month-old boy with NS. A 6-month-old boy was admitted to the hospital because of edema and fever. Our systematic examination led to a diagnosis of NS. Because of the early age of onset, we performed trio whole-exome sequencing of him and his parents. The results showed a new potentially pathogenic variant in the TBC1D8B gene on the X chromosome, c.2717A>G (p.His906Arg). After routine glucocorticoid therapy, his urine protein turned negative, indicating steroid-sensitive NS. The new TBC1D8B variant identified here, c.2717A>G (p.His906Arg), may be associated with early-onset NS in children. Although NS due to pathogenic variants in this gene is more commonly steroid-resistant, our patient had steroid-sensitive NS.
The Stromal Vascular Fraction From Fat Tissue in the Treatment of Osteochondral Knee Defect: Case Report
Authors: Ramil Z Salikhov, Ruslan F Masgutov, Mikhail A Chekunov, Leysan G Tazetdinova, Galina Masgutova, Oleg V Teplov, Damir Galimov, Yuri Plakseichuk, Ramil Yagudin, Igor O Pankov, Albert Rizvanov
Journal: Front Med (Lausanne) (2018)
Keywords: fat tissue, fibrin sealant, mesenchymal stem cells, osteochondral lesions of the knee, stromal vascular fraction
MeSH terms: Case Reports

In this study we applied autologous fat tissue stromal vascular fraction (SVF) cells in combination with microfracturing technique in a 36-year-old man with an osteochondral lesion of the medial femoral condyle 8 months after the injury. Cell material was generated by fat tissue liposuction from the anterior abdominal wall with subsequent extraction of the SVF and injected through a mini-arthrotomy portal with subsequent fibrin sealant fixation. The follow-up period was 2 years. Clinical score improved from 23 to 96 according to IKDC and from 10 to 90 according to EQ-VAS at 24 months follow-up. Magnetic resonance imaging (MRI) before the surgery revealed an osteochondral lesion with development of significant trabecular edema that remained unchanged for 6 months despite conservative treatment. MRI 1 and 2 years after the surgery showed the recovery of the damaged cartilage thickness with somewhat uneven structure and a decrease in the trabecular edema of the femoral condyle. The use of SVF cells with fibrin sealant fixation might be a promising approach in the treatment of osteochondral joint lesions. Further studies are required.
Case Report: Bortezomib Plus CDOP Followed by Sequential Autologous Hematopoietic Stem Cell Transplantation and Lenalidomide-Based Maintenance Therapy in Plasmablastic Lymphoma
Authors: Jiao Cai, Ling Qiu, Lei Ma, Nan Zhang, Fang-Yi Fan
Journal: Front Med (Lausanne) (2021)
Keywords: 18f-fdg pet/ct, autologous hematopoietic stem cell transplantation, bortezomib, lenalidomide, plasmablastic lymphoma
MeSH terms: Case Reports

The standardized treatment plan for patients with plasmablastic lymphoma (PBL) remains controversial. Taking morphological characteristics and immunophenotypes into consideration may provide superior options for the treatment of PBL. In this case, we report that a myeloma-type regimen containing bortezomib plus cyclophosphamide, epirubicin, vindesine and prednisolone (CDOP) followed by sequential autologous hematopoietic stem cell transplantation (ASCT) and lenalidomide-based maintenance therapy to treat PBL may represent a promising regimen to improve the prognosis.
Talus Bipartitus: A Rare Anatomical Variant Presenting as an Entrapment Neuropathy of the Tibial Nerve within the Tarsal Tunnel
Authors: M O Abrego, F L De Cicco, N E Gimenez, M O Marquesini, P Sotelano, M N Carrasco, M G Santini Araujo
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Tarsal tunnel syndrome is an entrapment neuropathy of the tibial nerve within the tarsal tunnel that lies beneath the retinaculum on the medial side of the ankle. It is often underdiagnosed. Talus bipartitus is a rare anatomical variant; only a few cases have been described in medical literature. We report a case of a 36-year-old female with tarsal tunnel syndrome secondary to a talus bipartitus undergoing surgical treatment with good clinical outcome. To our knowledge, talus bipartitus presenting as tarsal tunnel syndrome has no previous reports. Image studies and physical examination are crucial to reach precise diagnosis.
Isolated Bone Lesions in the Mandible and Maxilla of Langerhans Cell Histiocytosis Treated with Fractionated Stereotactic Low-Dose Radiotherapy: Case Report and 5-Year Follow-Up
Authors: Antoine Berberi, Georges Aoun, Georges Aad, Elie Azar
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Langerhans cell histiocytosis is a benign histiocytic disorder touching both genders and can occur at any age. It is currently classified by the Histiocyte Society as an inflammatory myeloid neoplasm of mixed cellularity. Clinically, it is illustrated by single or multiple osteolytic bone lesions associated with ulceration of the skin and soft tissues. Disease outcome is highly variable, depending on the degree of involvement. Bone pathologies are observed in 60% of cases as uni- or multifocal lesions. Several treatment modalities have been proposed and include surgical excision, intralesion steroid injection, chemotherapy, and low-dose radiotherapy. In this paper, we report a case of a 42-year-old male suffering from gingival swelling in the left side of his mandible and the right side of the maxilla. Clinical, radiological, and histological examinations confirm the diagnosis of Langerhans cell histiocytosis. Hematological investigation, entire body CT scan, and bone scintigraphy confirmed the limitation of the lesions in the right maxilla and on the left mandible. The lesions were treated with fractionated stereotactic low-dose radiotherapy, 24 Gy in 16 fractions, by using a linear accelerator with a custom-made rigid mask for accurate immobilization of the head with confirmed precision, which allows noninvasive approaches. Complete remission was achieved clinically and radiologically after one year, and a panoramic X-ray after 5 years confirms the bone healing process. Fractionated stereotactic low-dose RT could be adopted as an effective treatment.
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors
Authors: Daria C Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta
Journal: PLoS One (2015)
MeSH terms: Congenital Abnormalities / genetics, Mutation, Phosphatidylinositol 3-Kinases / genetics, Proto-Oncogene Proteins c-akt / metabolism, Signal Transduction, TOR Serine-Threonine Kinases / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Adipose Tissue / metabolism, Adipose Tissue / pathology, Cells, Cultured, Child, Class I Phosphatidylinositol 3-Kinases, Congenital Abnormalities / diagnosis, Connective Tissue / metabolism, Connective Tissue / pathology, Female, Fibroblasts / drug effects, Fibroblasts / metabolism, Humans, Infant, Male, Phosphatidylinositol 3-Kinases / metabolism, Phosphoinositide-3 Kinase Inhibitors, Protein Kinase Inhibitors / pharmacology, Zygote / metabolism, Phosphoinositide-3 Kinase Inhibitors, Protein Kinase Inhibitors, Class I Phosphatidylinositol 3-Kinases, PIK3CA protein, human, Proto-Oncogene Proteins c-akt, TOR Serine-Threonine Kinases

Background:
PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome and Hemihyperplasia Multiple Lipomatosis (HHML). Heterozygous postzygotic PIK3CA mutations are frequently identified in these syndromes, while timing and tissue specificity of the mutational event are likely responsible for the extreme phenotypic variability observed.
Methods:
We carried out a combination of Sanger sequencing and targeted deep sequencing of genes involved in the PI3K/AKT/mTOR pathway in three patients (1 MCAP and 2 FAO) to identify causative mutations, and performed immunoblot analyses to assay the phosphorylation status of AKT and P70S6K in affected dermal fibroblasts. In addition, we evaluated their ability to grow in the absence of serum and their response to the PI3K inhibitors wortmannin and LY294002 in vitro.
Results and conclusion:
Our data indicate that patients' cells showed constitutive activation of the PI3K/Akt pathway. Of note, PI3K pharmacological blockade resulted in a significant reduction of the proliferation rate in culture, suggesting that inhibition of PI3K might prove beneficial in future therapies for PROS patients.
Primary Adenocarcinoma of the Urethra: A Case Report and Review of the Literature
Authors: Abbas Basiri, Behzad Narouie, Mohammad Hossein Moghadasi, Mohammad Ghasemi-Rad, Reza Valipour
Journal: J Endourol Case Rep (2015)
MeSH terms: Case Reports

Primary adenocarcinoma of the urethra is rarely reported. We report a case of a 47-year-old male with symptoms of urinary obstruction started 2 years before diagnosis. Video-assisted urethrocystoscopy revealed a papillary mass almost obstructing the entire lumen with bleeding. Pathology report was consistent with primary adenocarcinoma of the urethra.
Methods for Detecting Abnormal Ventilation in Children - the Case Study of 13-Years old Pitt-Hopkins Girl
Authors: Pekka Nokelainen, Jose-Maria Perez-Macias, Sari-Leena Himanen, Anna Hakala, Mirja Tenhunen
Journal: Child Neurol Open (2023)
Keywords: emfit sensor, nel seizure detection, pitt-hopkins, respiratory effort, sleep, sleep-disordered breathing
MeSH terms: Case Reports

We present contactless technology measuring abnormal ventilation and compare it with polysomnography (PSG). A 13-years old girl with Pitt-Hopkins syndrome presented hyperpnoea periods with apneic spells. The PSG was conducted simultaneously with Emfit movement sensor (Emfit, Finland) and video camera with depth sensor (NEL, Finland). The respiratory efforts from PSG, Emfit sensor, and NEL were compared. In addition, we measured daytime breathing with tracheal microphone (PneaVox,France). The aim was to deepen the knowledge of daytime hyperpnoea periods and ensure that no upper airway obstruction was present during sleep. The signs of upper airway obstruction were not detected despite of minor sleep time. Monitoring respiratory effort with PSG is demanding in all patient groups. The used unobtrusive methods were capable to reveal breathing frequency and hyperpnoea periods. Every day diagnostics need technology like this for monitoring vital signs at hospital wards and at home from subjects with disabilities and co-operation difficulties.
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome
Authors: Gianluigi Laccetta, Francesca Moscuzza, Angela Michelucci, Andrea Guzzetta, Sara Lunardi, Francesca Lorenzoni, Paolo Ghirri
Journal: Front Pediatr (2017)
Keywords: nsd1, sotos, cryptorchidism, dolichocephaly, hypertelorism, learning disability, overgrowth
MeSH terms: Case Reports

Sotos syndrome (SoS) is characterized by overgrowth of prenatal onset, learning disability, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35. An Italian child was born at 37 weeks of gestation (weight 2,910 g, 25th-50th centiles; length 50 cm, 75th centile; head circumference 36 cm, 97th centile) showing cryptorchidism on the right side, hypertelorism, dolichocephaly, broad and prominent forehead, and narrow jaw; the pregnancy was worsened by maternal preeclampsia and gestational diabetes, and his mother had a previous history of four early miscarriages. The patient showed neonatal jaundice, hypotonia, feeding difficulties, frequent vomiting, and gastroesophageal reflux. After the age of 6 months, his weight, length, and head circumference were above the 97th centile; psychomotor development was delayed. At the age of 9 years, the patient showed also joint laxity and scoliosis. DNA sequence analysis of NSD1 gene detected a novel heterozygous mutation (c.521T>A, p.Val174Asp) in exon 2. The same mutant allele was also found in the mother and in the maternal grandfather of the proband; both the mother and the maternal grandfather of the proband showed isolated overgrowth with height above the 97th centile in absence of other features of SoS. At present 23 familial cases of SoS have been described (two cases with mutation in exon 2 of NSD1 gene); no familial cases of SoS with mutation of NSD1 gene and isolated overgrowth have been reported. Probably, point mutations of NSD1 gene, and particularly mutations between exon 20 and exon 23, are not likely to affect reproductive fitness. Epigenetic mechanisms and intrauterine environment may influence phenotypes, therefore genetic tests are not useful to predict the phenotype but they are indispensable for the diagnosis of SoS. This is the first Italian familial case of SoS with genetic confirmation and the third report in which a missense mutation of NSD1 gene is found in three generations of the same family.
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Authors: Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing Kei, Eric Kin Cheong Yau, Joannie Hui
Journal: Case Rep Genet (2022)
MeSH terms: Case Reports

A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns-Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook.
Unilateral recurrent laryngeal and hypoglossal nerve paralysis following rhinoplasty: a case report and review of the literature
Authors: Mehdi Bakhshaee, Ali Reza Bameshki, Mohsen Foroughipour, Mohammad Ali Zaringhalam
Journal: Iran J Otorhinolaryngol (2014)
Keywords: hypoglossal nerve, paralysis, recurrent laryngeal nerve, rhinoplasty
MeSH terms: Case Reports

Introduction:
Injury to cranial nerves IX, X, and XII is a known complication of laryngoscopy and intubation. Here we present a patient with concurrent hypoglossal and recurrent laryngeal nerve paralysis after rhinoplasty.
Case report:
The patient was a 27-year-old woman who was candidate for rhinoplastic surgery. The next morning after the operation, the patient complained of dysphonia and a sore throat .7 days after the operation she was still complaining of dysphonia. She underwent a direct laryngoscopy, and right TVC paralysis was observed. Right hypoglossal nerve paralysis was also detected during physical cranial nerve function tests. Hypoglossal and recurrent laryngeal nerve function was completely recovered after 5 and 7 months, respectively, and no complication was remained.
Conclusion:
Accurate and atraumatic intubation and extubation, true positioning of the head and neck, delicate and gentle packing of the oropharynx, and maintenance of mean blood pressure at a safe level are appropriate methods to prevent this complication during anesthesia and surgical procedures.
Thrombosis in the Surgically Corrected Anomalous Right Coronary Artery after Reimplantation in Aorta
Authors: Ata Bajwa, Bhanu Gupta, Lina Ya'qoub, Steven B Laster, Randall Thompson
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

A 32-year-old African American female presented with dyspnea, and after several cardiac diagnostic tests, the diagnosis of an anomalous origin of the RCA from the pulmonary trunk was established by multislice coronary CT angiography. She underwent surgical correction with reimplantation of the RCA, from the pulmonary artery to the aortic root. However, 10 days after surgery, she developed frequent episodes of chest pain, and repeat coronary CTA showed a partially occlusive thrombus in the surgically reimplanted RCA. Anticoagulation with warfarin resulted in complete resolution of the patient's symptoms.
Five-Month Follow-Up Assessing Defecography and Urodynamics after Laparoscopic Nerve-Sparing Colorectal Resection for Endometriosis
Authors: Claudio Peixoto Crispi Jr, Claudio Peixoto Crispi, Alice Cristina Coelho Brandão Salomão, Claudia Maria Vale Joaquim, Bruna Rafaela Santos de Oliveira, Marlon de Freitas Fonseca
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Introduction:
Large resections may be necessary in cytoreductive surgery for endometriosis, which present risk of urinary and bowel complications. Presentation of Case. A 29-year-old woman underwent multidisciplinary laparoscopy for endometriosis in a private practice setting for acyclic pelvic pain and cyclic abdominal distension with changes in bowel habits and frequent sensation of incomplete defecation. After surgery, urodynamics remained normal and bowel function improved subjectively and objectively per dynamic magnetic resonance defecography (DMRD). The five-month follow-up found improvements in pain scores, bowel function, and health-related quality of life (assessed by the full versions of the Short Form 36 and Endometriosis Health Profile 30 scales). Discussion. Animus may contribute to the bowel symptoms in women with endometriosis. DMRD provides additional objective parameters for comparing pre- and postoperative functions.
Conclusion:
A nerve-sparing segmental rectosigmoidectomy for endometriosis carefully executed by a multidisciplinary team can preserve the function of different pelvic organs.
Sentinel node detection in endometrial cancer using indocyanine green and fluorescence imaging-a case report
Authors: Anupama Rajanbabu, R Venkatesan, Satish Chandramouli, P V Nitu
Journal: Ecancermedicalscience (2015)
Keywords: endometrial cancer, fluorescent lymphoscintigraphy, sentinel node
MeSH terms: Case Reports

Sentinel lymph node mapping in endometrial cancer can help to provide the prognostic information needed while avoiding the morbidity associated with a complete lymphadenectomy. Studies with blue dye and technetium colloid have only given about 80% detection rates whereas with indocyanine green injection and fluorescence imaging, it gives about 88-100% detection rates. Herein, we report a case where indocyanine green was injected intracervically and sentinel nodes were detected at the paraaortic nodal area.