OpenMed/multicare-articles huggingface dataset:
Transesophageal echocardiography-guided percutaneous closure of multiple muscular ventricular septal defects with pulmonary hypertension using single device: A case report
Authors: Sisca Natalia Siagian, Radityo Prakoso, Brian Mendel, Zakky Hazami, Valerinna Yogibuana Swastika Putri, Zulfahmi, Damba Dwisepto Aulia Sakti, Ario Soeryo Kuncoro
Journal: Front Cardiovasc Med (2023)
Keywords: echocardiography-guided, muscular vsd, pulmonary hypertension, single device, transjugular
MeSH terms: Case Reports

Background:
Surgery is typically used to correct challenging ventricular septal defects (VSDs), such as VSD with pulmonary hypertension and multiple defects. In this case report, we would like to highlight the feasibility of multiple defects VSD closure with single device percutaneously using zero-fluoroscopy technique.
Case presentation:
A 7-year-old child was referred with the main symptom of shortness of breath. She started experiencing repeated respiratory tract infections, feeding issues, and failure to thrive at the age of six months. Her body weight was only 18 kg. TEE revealed several muscular VSD with 2-3 mm and 12 mm diameters, 3 mm spacing between VSD, L to R shunt, AR (-), and TR mild with septal leaflet tricuspid prolapse. Following right heart catheterization (Qp:Qs 3.5, PVRi 5.23WUmsq, PVR 4.55 WU, PVR/SVR 0.16), we made the decision to correct the defect using an Amplatzer Septal Occluder (AGA) No. 16 mm using transjugular method. Full device deployment was successfully performed with several episodes of PVC storm and severe bradycardia. One and a half years after the procedure, her TVG dropped to only 18 mmHg, her visible indicators of PH subsided, and the PA dilator treatment was discontinued. Her body weight had increased to 28 kg, and she had no complaints.
Conclusions:
Our experience demonstrated that percutaneous closure of multiple VSD with a single device is possible, even with pulmonary hypertension.
Type IV RTA in Chronic Adrenal Insufficiency and Concomitant Lisinopril Treatment
Authors: Francesca Galbiati
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Type IV renal tubular acidosis (RTA) is the only RTA characterized by hyperkalemia, and it is caused by a true aldosterone deficiency or renal tubular aldosterone hyporesponsiveness. It is frequent among hospitalized patients as it is related to type 2 diabetes mellitus (T2DM) and common medications such as ACE-inhibitors (ACE-is) and trimethoprim-sulfamethoxazole (TMP-SMX). Drug-induced RTA commonly manifests in patients with predisposing conditions such as mild renal insufficiency and certain pharmacological therapies. ACE-i use and chronic adrenal insufficiency (cAI) are other significant risk factors. Chronic ACTH suppression is thought to induce global adrenal atrophy, including the zona glomerulosa, thus affecting aldosterone secretion as well. Furthermore, in the setting of cAI, treatment with ACE-is further suppresses aldosterone production. This case report describes a patient with cAI secondary to corticosteroid use for years who developed type IV RTA in the setting of lisinopril use. Potassium (K) elevation persisted despite removing underlying conditions and metabolic acidosis correction. The patient required long-term treatment with mineralocorticoids in addition to sodium bicarbonate to maintain normal K levels and acid-base status. Mineralocorticoid administration is a second-line treatment for type IV RTA, but it might be necessary for a subgroup of high-risk patients. In fact, it is important to consider patients with chronic adrenal insufficiency and on ACE-is treatment at increased risk for refractory hyperkalemia in the setting of type IV RTA. Indeed, this subgroup of patients can have severe hypoaldosteronism.
Giant precordial T wave inversion in a patient with gastroenteritis
Authors: David Rott, David Leibowitz, A Teddy Weiss
Journal: Case Rep Vasc Med (2011)
MeSH terms: Case Reports

Giant precordial T wave inversion (GPTI) on ECG may be the result of several pathologies, including myocardial ischemia, pulmonary edema, pulmonary embolism, subarachnoid hemorrhage, apical hypertrophy, and postpacing. We describe a case of a 75-year-old woman who developed GPTI after an episode of gastroenteritis. To our knowledge, this is the first report of this ECG pattern associated with gastroenteritis.
Epitheloid myxofibrosarcoma of the parotid gland
Authors: B Srinivasan, M Ethunandan, K Hussain, V Ilankovan
Journal: Case Rep Pathol (2011)
MeSH terms: Case Reports

Myxofibrosarcoma has been recently described as a distinct histological entity and commonly affects the extremities and trunk of the elderly. It is, however, rare in the head and neck (2.8%) region, and we are unaware of any reports of it presenting as a parotid mass. The epitheloid variant accounts for less than 3% of myxofibrosarcomas. We report a case of a 78/F presenting with an epitheloid myxofibrosarcoma in the parotid gland. The clinical presentation was of a parotid lump of 9-month duration, and the diagnosis was made following thorough histological assessment. We present what we believe to be the first reported case of a (epitheloid) myxofibrosarcoma affecting the parotid gland and highlight its diagnostic features and outcome of treatment.
Mixed lesion of traumatic pseudoaneurysm and pyogenic granuloma on a digit
Authors: Toshifumi Yamashiro, Yusuke Hachisu, Ryuichi Azuma
Journal: Case Reports Plast Surg Hand Surg (2023)
Keywords: false aneurysm, digital artery, hand surgery, microvascular surgery, ultrasound
MeSH terms: Case Reports

Traumatic aneurysms occurring in the digit are extremely rare. We report a case of a traumatic pseudoaneurysm arising from a terminal branch of the finger artery and presenting as a mixed lesion with pyogenic granuloma that was exposed to the outside of the body and treated surgically.
Hyperprogression After Immunotherapy for Primary Small Cell Neuroendocrine Carcinoma of the Ureter: A Case Report
Authors: Defeng Qing, Luxing Peng, Feng Cen, Xinjun Huang, Qiang Wei, Heming Lu
Journal: Front Oncol (2021)
Keywords: pd-l1, case report, chemoradiotherapy, small cell neuroendocrine carcinoma, ureter
MeSH terms: Case Reports

Background:
Primary small cell neuroendocrine carcinoma (SCNEC) in the ureter is extremely rare and has been sporadically reported in case reports. Its incidence, diagnosis, treatment, and outcomes have not yet been thoroughly understood. Here we present a patient with advanced SCNEC in the ureter who was treated by multimodal strategies. To the best of our knowledge, this is the first literature report about the clinical outcomes of the combination of programmed death ligand 1 (PD-L1) immune checkpoint inhibitors (ICIs) and radiotherapy in patient with primary ureteral SCNEC.
Case presentation:
A 71-year old male presented with right flank pain and gross hematuria. A laparoscopic right nephroureterectomy was performed. He was diagnosed with primary ureteral SCNEC, pT3N0M0. Following the surgery, 4 cycles of adjuvant chemotherapy with carboplatin and etoposide (CE) were administered, with disease-free survival (DFS) of 10.1 months. He was then offered 4 cycles of palliative first-line chemotherapy with nedaplatin and irinotecan. The disease was continuously progressed, with progression-free survival (PFS) of 3.7 months. The patient subsequently received second-line treatment with PD-L1 ICI combined with radiotherapy. Unfortunately, hyperprogressive disease was found at the end of treatment. MRI and CT scan showed bilateral pubic bones, right acetabulum, and liver metastases. Without further intervention, the patient died from extensive metastatic disease 2 months after diagnosis, with overall survival (OS) of 18.2 months.
Conclusion:
Physicians must be aware of this rare and aggressive carcinoma at its initial presentation. Special attention should be paid to the potential likelihood of hyperprogression during the treatment.
Unusual giant right atrium in rheumatic mitral stenosis and tricuspid insufficiency
Authors: Jean Baptiste Anzouan-Kacou, Christophe Konin, Iklo Coulibaly, Roland N'guetta, Anicet Adoubi, Esaïe Soya, Bénédicte Boka
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Dilation and hypertrophy of the atria occur in patients with valvular heart disease especially in mitral regurgitation, mitral stenosis or tricuspid abnormalities. In sub-saharan Africa, rheumatic fever is still the leading cause of valvular heart disease. We report a case of an unusual giant right atrium in context of rheumatic stenosis and severe tricuspid regurgitation in a 58-year-old woman.
Continent vesicovaginal fistula
Authors: Luís Gustavo Morato de Toledo, Victor Espinheira Santos, Paulo Eduardo Gourlat Maron, Bruno César Vedovato, Moacyr Fucs, Marjo Deninson Cardenuto Perez
Journal: Einstein (Sao Paulo) (2013)
MeSH terms: Urination, Vesicovaginal Fistula / physiopathology, Case Reports, Female, Humans, Hysterectomy / adverse effects, Middle Aged, Reoperation, Vesicovaginal Fistula / pathology

Vesicovaginal fistula is an abnormal communication between the bladder and vagina and represents the most frequent type of fistula in the urinary tract. The most common cause in Brazil is iatrogenic fistula, secondary to histerectomia. Classically these women present continuous urinary leakage from the vagina and absence of micturition, with strong negative impact on their quality of life. We present a case of totally continent vesicovaginal fistula, with a follow-up of 11 years with no complications.
Valgus and varus deformity after wide-local excision, brachytherapy and external beam irradiation in two children with lower extremity synovial cell sarcoma: case report
Authors: Daniel T Fletcher, William C Warner, Michael D Neel, Thomas E Merchant
Journal: BMC Cancer (2004)
MeSH terms: Brachytherapy / adverse effects, Joint Deformities, Acquired / etiology, Knee Joint / abnormalities, Sarcoma, Synovial / radiotherapy, Sarcoma, Synovial / surgery, Case Reports, Research Support, Non-U.S. Gov't, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Biopsy, Chemotherapy, Adjuvant, Child, Diagnosis, Differential, Doxorubicin / administration & dosage, Female, Humans, Ifosfamide / administration & dosage, Joint Deformities, Acquired / rehabilitation, Knee, Male, Neoplasm, Residual, Physical Therapy Specialty, Popliteal Cyst / diagnosis, Reoperation, Sarcoma, Synovial / diagnosis, Vincristine / administration & dosage, Vincristine, Doxorubicin, Ifosfamide

Background:
Limb-salvage is a primary objective in the management of extremity soft-tissue sarcoma in adults and children. Wide-local excision combined with radiation therapy is effective in achieving local tumor control with acceptable morbidity and good functional outcomes for most patients.
Case presentation:
Two cases of deformity after wide-local excision, brachytherapy and external beam irradiation for lower-extremity synovial cell sarcoma are presented and discussed to highlight contributing factors, time course of radiation effects and orthopedic management. In an effort to spare normal tissues from the long-term effects of radiation therapy, more focal irradiation techniques have been applied to patients with musculoskeletal tumors including brachytherapy and conformal radiation therapy. As illustrated in this report, the use of these techniques results in the asymmetric irradiation of growth plates and contributes to the development of valgus or varus deformity and leg-length discrepancies.
Conclusions:
Despite good functional outcomes, progressive deformity in both patients required epiphysiodesis more than 3 years after initial management. There is a dearth of information related to the effects of radiation therapy on the musculoskeletal system in children. Because limb-sparing approaches are to be highlighted in the next generation of cooperative group protocols for children with musculoskeletal tumors, documentation of the effects of surgery and radiation therapy will lead to improved decision making in the selection of the best treatment approach and in the follow-up of these patients.
Spontaneous Epidural Hemorrhage in Sickle Cell Disease, Are They All the Same? A Case Report and Comprehensive Review of the Literature
Authors: Biplab Saha, Aditi Saha
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Trauma to the skull causing injury to the middle meningeal artery, middle meningeal vein, or dural venous sinuses is responsible for most cases of epidural hemorrhage (EDH). Spontaneous EDH is a rare entity in clinical practice. Common causes include sinusitis, coagulation abnormalities, dural metastasis, and Langerhans cell histiocytosis. Isolated nontraumatic EDH is an exceedingly rare complication of sickle cell disease (SCD). We report a case of spontaneous EDH in a patient with SCD and review the world literature regarding this rare entity. A 20-year-old African American female with sickle cell disease presented with vaso-occlusive crisis. About 24 hours after hospital admission, the patient had sudden deterioration of her mental status. An emergent CT scan of the head revealed a large right-sided frontoparietal epidural hematoma with midline shift, subfalcine, and uncal herniation. The patient underwent emergent hematoma evacuation but died 24 hours after surgery.
Hashimoto's thyroiditis, vitiligo, anemia, pituitary hyperplasia, and lupus nephritis-A case report of autoimmune polyglandular syndrome type III C + D and literature review
Authors: Yongmei Sun, Xuan Kan, Rongxiu Zheng, Liping Hao, Zongtao Mao, Ying Jia
Journal: Front Pediatr (2023)
Keywords: hashimoto's thyroiditis (ht), anemia, autoimmune polyglandular syndrome (aps) type iii, lupus nephritis (ln), pituitary hyperplasia, vitiligo
MeSH terms: Case Reports

Objective:
This study aims to summarize the clinical characteristics of one teenager with autoimmune polyglandular syndrome (APS) type III C + D to improve the understanding of APS III C + D and its effect of thyroid function.
Methods:
This article reported the clinical manifestations, laboratory examinations, treatment methods, and outcomes of an adolescent with anemia admitted to the Pediatrics Department of Tianjin Medical University General Hospital in July 2020 and reviewed the literature.
Results:
A girl, aged 13 years and 1 month, was admitted to the hospital due to anemia for more than 4 years and episodic abdominal pain for 1 week. Four years ago, the girl went to a local hospital for "vitiligo", and a routine blood test revealed anemia. The lowest hemoglobin (HGB) was 61 g/L, and the blood test revealed iron deficiency anemia. She had no menstrual cramps for 2 months. Urine routine showed protein 3+∼4+ and 258 red blood cells (RBCs)/high-power field. Urine protein was 3,380 mg/24 h. Free thyroxine was low, thyroid-stimulating hormone was >100 uIU/ml, thyroid peroxidase antibody was >1,000 IU/ml, and thyroglobulin antibody and thyrotropin receptor antibody were negative. Pituitary magnetic resonance imaging showed a mass in the sellar region with a uniform signal and a maximum height of about 15.8 mm. The result of the antinuclear antibody was 1:80 homogeneous type, and anti-dsDNA and anticardiolipin antibodies IgA and IgM were slightly higher. Thyroxine and iron were given for 1 month, menstruation resumed, and urine protein and RBC count decreased. After 5 months of treatment, free thyroid function, HGB, RBCs in urine, and pituitary returned to normal. Later, a renal biopsy showed changes in focal proliferative glomerulonephritis, and the girl was diagnosed with lupus glomerulonephritis type III. After 3 days of shock therapy with methylprednisolone, prednisone, mycophenolate mofetil, and other treatments were administrated for 1 year. At the time of writing, urine protein was 280 mg/24 h.
Conclusion:
Co-occurrence of Hashimoto's thyroiditis, vitiligo, anemia, pituitary hyperplasia, and lupus nephritis is rare. It is very important to pay attention to the screening of thyroid function.
Perfluoro-n-octane mimicking an intraocular foreign body
Authors: Prabu Baskaran, Pratyusha Ganne, Nagesha C Krishnappa
Journal: GMS Ophthalmol Cases (2017)
Keywords: ct scan, intraocular foreign body, perfluoro-n-octane, rodio-dense
MeSH terms: Case Reports

Retained intraocular foreign body (IOFB) is a major cause of visual loss following open globe injuries. Detecting the presence and accurate localization of IOFB in the setting of an open globe injury remains a challenge. There can be various mimics of intraocular IOFB on imaging including air, ocular calcifications, etc. Here, we describe a case of open globe injury wherein a retained perfluoro-n-octane bubble mimicked a retained intraocular foreign body.
Ureaplasma urealyticum infection presenting as altered mental status in a post-chemotherapy patient: Case report and literature review
Authors: Eunice J Y Kok, Y L Lee
Journal: Front Med (Lausanne) (2022)
Keywords: ureaplasma urealyticum, altered mental status (ams), cancer, chemotherapy, hyperammonemia, immunocompromised
MeSH terms: Case Reports

Hyperammonemia due to Ureaplasma infection is rare but often fatal, largely due to the delayed recognition, diagnosis, and treatment of the condition. It has mostly been described in solid organ transplant patients in the literature. This case presents the diagnostic challenge of an immunocompromised patient with previous resected pancreatic head adenocarcinoma and chemotherapy, presenting with altered mental status due to hyperammonemia from Ureaplasma infection. It is imperative to consider this condition in unexplained hyperammonemia, especially in immunocompromised patients. Timely diagnosis of this condition can help to reduce complications from encephalopathy such as cerebral edema and seizures.
A Rare Case of Inguinal Hernia of a Ureter Belonging to a Duplex Kidney
Authors: Mohadese Dashtkoohi, Azade Haghiri, Mohammad Sadeq Najafi
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Introduction:
Inguinal herniation of the ureter is a rare entity that occurs either as a complication of renal transplantation or spontaneously. Patients may suffer from obstructive uropathy or groin pain due to the unusual ectopic course of the ureter. This case report highlights the importance of recognizing a ureteroinguinal hernia.
Methods:
In this case report, we present a 75-year-old man with a surgical history of a right inguinal hernia repair who was referred to our center with burning left inguinal pain that persisted for two weeks. The patient's history and physical examination were consistent with an inguinal hernia. The suspected indirect inguinal hernia was found on preoperative imaging to be a tubular structure distinct from the intestine or adjacent organs. An open exploration of the inguinal canal was performed to prevent further hernia development.
Results:
The unusual structure in the inguinal canal turned out to be an ectopic ureter originating from the left upper pole moiety of the left duplex kidney (i.e., with duplicated ureters) and containing concentrated urine, as confirmed on a postoperative computerized tomography urogram.
Conclusion:
It is crucial to perform a thorough clinical examination and utilize adequate imaging modalities before surgical procedures when encountering unidentified structures.
A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
Authors: Jiajia Ni, Yaju Zhu, Fujun Lin, Wenbin Guan, Jing Jin, Yufeng Li, Guimei Guo
Journal: Front Pediatr (2022)
Keywords: clcn5 gene mutation, dent disease, x-link, low molecular weight proteinuria, renal tubule disorders
MeSH terms: Case Reports

Background:
Dent disease is a group of inherited X-linked recessive renal tubular disorders. This group of disorders is characterized by low molecular weight proteinuria (LMWP), nephrocalcinosis, hypercalciuria and renal failure.
Case presentation:
Here we report one 11-year-old Chinese boy (proband) and one 13-year-old Chinese boy who was proband's cousin, both presented with massive proteinuria. Further laboratory examinations revealed a lack of nephrocalcinosis, nor any other signs of tubular dysfunction, but only LMWP and hypercalciuria. There was no abnormality in growth, renal function or mineral density of the bones. A novel deletion (c.1448delG) in the CLCN5 gene was identified, resulting in a frame shift mutation (p.Gly483fs). The proband's and his cousin's mothers were found to be the carrier of this mutation.
Conclusions:
In this study, we have found a novel frameshift mutation (c. 1448delG) at exon 11 of the CLCN5 gene which leads to Dent disease 1, expanding the spectrum of CLCN5 mutations.
Refractory Toxic Shock-Like Syndrome from Streptococcus dysgalactiae ssp. equisimilis and Intravenous Immunoglobulin as Salvage Therapy: A Case Series
Authors: Marjan Islam, Dennis Karter, Jerry Altshuler, Diana Altshuler, David Schwartz, Gianluca Torregrossa
Journal: Case Rep Infect Dis (2016)

Infections from Streptococcus dysgalactiae ssp. equisimilis (SDSE) can cause a wide variety of infections, ranging from mild cellulitis to invasive disease, such as endocarditis and streptococcal toxic shock-like syndrome (TSLS). Despite prompt and appropriate antibiotics, mortality rates associated with shock have remained exceedingly high, prompting the need for adjunctive therapy. IVIG has been proposed as a possible adjunct, given its ability to neutralize a wide variety of superantigens and modulate a dysregulated inflammatory response. We present the first reported cases of successful IVIG therapy for reversing shock in the treatment of SDSE TSLS.
A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report
Authors: Veronica Castelnovo, Elisa Canu, Teuta Domi, Laura Pozzi, Francesca Vignaroli, Edoardo Gioele Spinelli, Alma Ghirelli, Giacomo Tondo, Cristoforo Comi, Nilo Riva, Angelo Quattrini, Paola Carrera, Massimo Filippi, Federica Agosta
Journal: Front Neurosci (2023)
Keywords: case report, frontotemporal dementia, longitudinal, primary progressive aphasia, progranulin
MeSH terms: Case Reports

Objectives:
We report the clinical presentation and evolution of a case with a novel Progranulin gene (GRN) mutation and non-fluent language disturbances at onset.
Materials and methods:
A 60 year-old, white patient was followed due to a history of language disturbances. Eighteen months after onset, the patient underwent FDG positron emission tomography (PET), and at month 24 was hospitalized to perform neuropsychological evaluation, brain 3 T MRI, lumbar puncture for cerebrospinal fluid (CSF) analysis, and genotyping. At month 31, the patient repeated the neuropsychological evaluation and brain MRI.
Results:
At onset the patient complained prominent language production difficulties, such as effortful speech and anomia. At month 18, FDG-PET showed left fronto-temporal and striatal hypometabolism. At month 24, the neuropsychological evaluation reported prevalent speech and comprehension deficits. Brain MRI reported left fronto-opercular and striatal atrophy, and left frontal periventricular white matter hyperintensities (WMHs). Increased CSF total tau level was observed. Genotyping revealed a new GRN c.1018delC (p.H340TfsX21) mutation. The patient received a diagnosis of non-fluent variant of primary progressive aphasia (nfvPPA). At month 31, language deficits worsened, together with attention and executive functions. The patient presented also with behavioral disturbances, and a progressive atrophy in the left frontal-opercular and temporo-mesial region.
Discussion and conclusion:
The new GRN p.H340TfsX21 mutation resulted in a case of nfvPPA characterized by fronto-temporal and striatal alterations, typical frontal asymmetric WMHs, and a fast progression toward a widespread cognitive and behavioral impairment, which reflects a frontotemporal lobar degeneration. Our findings extend the current knowledge of the phenotypic heterogeneity among GRN mutation carriers.