OpenMed/multicare-articles huggingface dataset:
Chemoradiotherapy in a Case of Malignant Syringocystadenocarcinoma Papilliferum of Vulva with Locoregional Failure
Authors: Pamidimukkala Bramhananda Rao, Saptarshi Ghosh, Manisha Mohapatra, N Pramod Philip, P Ravindra Kumar, Surendra Manam, Pradeep Karra, Vijay Krishna Jasti
Journal: Case Rep Oncol Med (2015)

Introduction. Syringocystadenocarcinoma papilliferum (SCACP) is an extremely rare malignant adnexal tumor, which arises from syringocystadenoma papilliferum. To date, less than 30 cases of malignant SCACP have been reported, of which locoregional metastases were found in only four cases. Case Report. A 57-year-old female patient who presented to our Oncology Department with a recurrent malignant SCACP of the left labia along with right inguinal lymphadenopathy. Pathological examination confirmed the diagnosis of malignant SCACP with right inguinal lymph node metastases. Due to the fixity of the right inguinal nodes, neoadjuvant chemotherapy was administered with Cisplatin and 5-Fluorouracil for four cycles, following which the primary tumor and the contralateral inguinal nodes regressed completely. Then definitive chemoradiation was delivered with five cycles of weekly Cisplatin and external beam pelvic irradiation up to a dose of 59.4 Gy. Patient is disease-free 11 months after treatment. Discussion. We here report the fifth case of malignant SCACP with locoregional metastases. This is the first case of malignant SCACP which has been treated with neoadjuvant chemotherapy followed by concurrent chemoradiation. Although surgery has been used most commonly, chemoradiation may also have a role in the treatment of malignant SCACP, especially in cases of locoregional metastases.
Parathyroid hemangioma
Authors: Odille Mejia, Hisham F Bahmad, Kei Shing Oh, Juan C Paramo, Robert Poppiti
Journal: Autops Case Rep (2021)
Keywords: adenoma, case reports, hemangioma, parathyroid diseases, parathyroid neoplasms
MeSH terms: Review

Background:
Hemangiomas are benign neoplasms of capillary proliferation that arise from a developmental anomaly where angioblastic mesenchyme fails to form canals. Most hemangiomas arise in the head and neck region, either superficially in the skin or deeper within endocrine organs such as the parotid gland. Parathyroid hemangiomas, however, are extremely rare, with only five cases previously reported in the literature.
Case presentation:
Herein, we present a case of a 68-year-old man with a hemangioma almost completely replacing the right upper parathyroid gland, grossly measuring 1.3 × 1.3 × 1.2 cm and weighing 700 mg, associated with primary hyperparathyroidism.
Conclusions:
Parathyroid gland enlargement due to vascular neoplasms such as hemangiomas can mimic, both clinically and radiographically, hyperplasias and/or adenomas. Surgeons need to be aware of the presence of this entity and should consider it in the differential diagnosis of hyperparathyroidism or parathyroid gland enlargement.
Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome
Authors: Shana R Mencher, William V Tamborlane, Anisha D Patel
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Background. Griscelli syndrome (GS) is a rare disorder characterized by partial albinism and silver hair with alteration in genes necessary for melanin transport. Type 2 GS is fatal due to severe immunodeficiency without curative stem cell transplant (SCT). Late endocrinopathies are quite common in other disorders after SCT. These complications have not been reported in GS. Case Presentation. A 7-year-old female presented for growth failure with a history of GS status post curative SCT and consequently developed graft-versus-host disease (GvHD). She also had a history of eosinophilic enterocolitis, for which she was taking supraphysiologic glucocorticoids for the past year. She presented with severe short stature along with mild hyperthyroxinemia with subsequent diagnosis of Graves' disease, which was treated with methimazole. GH therapy was commenced due to persistent growth failure, with a robust increase in growth parameters. She started spontaneous puberty; however, initial biochemical evaluation revealed hypergonadotropic hypogonadism with undetectable anti-Mullerian hormone (AMH) consistent with low ovarian reserve and premature ovarian failure. Discussion. Growth failure was multifactorial due to her inflammatory condition and poor weight gain from multiple underlying illnesses, including hyperthyroidism, as well as chronic supraphysiologic glucocorticoid use. Although hypothyroidism is more commonly seen after SCT, rare cases of hyperthyroidism have been reported. In addition to SCTs, GvHD and GS have been associated with autoimmune conditions. It is important to monitor pubertal progression as the majority of those treated with alkylating agents prior to SCT have pubertal and ovarian failure and remain at risk for premature menopause.
Meckel's Diverticulum: The "Great Mimic" but Often a Forgotten Cause of Acute Abdomen during Pregnancy
Authors: Beatriz Féria, Madalena Trindade, Maria João Palma, Joana Figueiredo, Filipa Passos
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Meckel's diverticulitis is an extremely rare event during pregnancy. Its diagnosis is often difficult and can result in higher maternal and fetal morbimortality. We describe a case of a 40-year-old healthy pregnant woman at 33 weeks of gestation who presented with abdominal pain and tender abdomen, leukocytosis, and elevated PCR. The imagiological exams were not conclusive. After an urgent caesarean section due to worsening of clinical status and nonreassuring fetal well-being, a laparotomy revealed a distended, necrotic, and perforated Meckel's diverticulum.
Mirror-Image Lesions in Sequential Relapses of AQP4-Positive Neuromyelitis Optica Spectrum Disorder
Authors: Ryan T Muir, Aditya Bharatha, Dalia Rotstein
Journal: Front Neurol (2020)
Keywords: mri, aquaporin (aqp)-4, astrocytopathy, blood brain barrier (bbb), neuromyelitis optic spectrum disorder
MeSH terms: Case Reports

A 25 year-old Nigerian woman with aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (NMOSD) presented with a 6 week history of nausea, vomiting, and refractory hiccups; as well as progressive lower extremity sensory loss, weakness, saddle anesthesia, and urinary incontinence. She had experienced her first NMOSD relapse seven years prior with bilateral lower extremity weakness and area postrema syndrome. After pulse steroids and plasma exchange she made a complete neurologic recovery and was started on azathioprine. An initial aquaporin-4 (AQP4) antibody ELISA test was positive, but three subsequent tests were negative and repeat MRI brain showed resolution of T2/FLAIR signal abnormalities with the exception of a right thalamic lesion and a left medullary lesion. Azathioprine was discontinued after 1 year and she was lost to follow-up. With her second relapse, she had new lesions in her left thalamus and right medulla-a mirror image of the thalamic and medullary lesions associated with her first relapse. In addition, an MRI spine demonstrated a new longitudinally extensive transverse myelitis from T7 to L1 with edematous expansion of the cord. Her serum AQP4 antibody test using a cell-based assay was strongly positive. NMOSD lesions are typically associated with brain regions with high density of the AQP4 channel. These areas include optic nerves, hypothalamus, and the diencephalic and brainstem tissues that surround the cerebral aqueduct and third and fourth ventricles. Previous studies have demonstrated that those with relapsing NMOSD have a predilection for recurrence in the same neuroanatomical region as their first episode. We hypothesize, using data from prior pathologic and epidemiologic studies, that mirror image lesions, where the same anatomic sites are affected on the contralateral side of the brain or spinal cord, may appear in subsequent attacks due to (i) areas of high remaining AQP4 density and/or (ii) local compromise of astrocyte or blood-brain barrier (BBB) function that persists after the initial inciting attack.
Epidemiology of respiratory viral infections in two long-term refugee camps in Kenya, 2007-2010
Authors: Jamal A Ahmed, Mark A Katz, Eric Auko, M Kariuki Njenga, Michelle Weinberg, Bryan K Kapella, Heather Burke, Raymond Nyoka, Anthony Gichangi, Lilian W Waiboci, Abdirahman Mahamud, Mohamed Qassim, Babu Swai, Burton Wagacha, David Mutonga, Margaret Nguhi, Robert F Breiman, Rachel B Eidex
Journal: BMC Infect Dis (2012)
MeSH terms: Refugees, Respiratory Tract Infections / epidemiology, Respiratory Tract Infections / virology, Virus Diseases / epidemiology, Virus Diseases / virology, Viruses / classification, Viruses / isolation & purification, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Kenya / epidemiology, Male, Middle Aged, Nasopharynx / virology, Oropharynx / virology, Prevalence, Young Adult

Background:
Refugees are at risk for poor outcomes from acute respiratory infections (ARI) because of overcrowding, suboptimal living conditions, and malnutrition. We implemented surveillance for respiratory viruses in Dadaab and Kakuma refugee camps in Kenya to characterize their role in the epidemiology of ARI among refugees.
Methods:
From 1 September 2007 through 31 August 2010, we obtained nasopharyngeal (NP) and oropharyngeal (OP) specimens from patients with influenza-like illness (ILI) or severe acute respiratory infections (SARI) and tested them by RT-PCR for adenovirus (AdV), respiratory syncytial virus (RSV), human metapneumovirus (hMPV), parainfluenza viruses (PIV), and influenza A and B viruses. Definitions for ILI and SARI were adapted from those of the World Health Organization. Proportions of cases associated with viral aetiology were calculated by camp and by clinical case definition. In addition, for children < 5 years only, crude estimates of rates due to SARI per 1000 were obtained.
Results:
We tested specimens from 1815 ILI and 4449 SARI patients (median age = 1 year). Proportion positive for virus were AdV, 21.7%; RSV, 12.5%; hMPV, 5.7%; PIV, 9.4%; influenza A, 9.7%; and influenza B, 2.6%; 49.8% were positive for at least one virus. The annual rate of SARI hospitalisation for 2007-2010 was 57 per 1000 children per year. Virus-positive hospitalisation rates were 14 for AdV; 9 for RSV; 6 for PIV; 4 for hMPV; 5 for influenza A; and 1 for influenza B. The rate of SARI hospitalisation was highest in children < 1 year old (156 per 1000 child-years). The ratio of rates for children < 1 year and 1 to < 5 years old was 3.7:1 for AdV, 5.5:1 for RSV, 4.4:1 for PIV, 5.1:1 for hMPV, 3.2:1 for influenza A, and 2.2:1 for influenza B. While SARI hospitalisation rates peaked from November to February in Dadaab, no distinct seasonality was observed in Kakuma.
Conclusions:
Respiratory viral infections, particularly RSV and AdV, were associated with high rates of illness and make up a substantial portion of respiratory infection in these two refugee settings.
Multiple bone metastasis of sclerosing epithelioid fibrosarcoma 12 years after initial surgery-increasing ki-67 labeling index
Authors: Atsuko Kanno, Masahito Hatori, Masami Hosaka, Koshi N Kishimoto, Munenori Watanuki, Mika Watanabe, Eiji Itoi
Journal: Sarcoma (2009)
MeSH terms: Case Reports

Sclerosing epithelioid fibrosarcoma (SEF) is a rare sarcoma of low-grade malignancy. There has been no report to describe the comparison of histological features of SEF between primary and metastatic lesions in spite of high local recurrence rate. We report the histological changes and increasing Ki-67 labeling index of the primary and metastatic lesions of SEF. The patient was a 31-year-old man. At 18, a tumor in the abdominal wall was excised. At 23, the tumor recurred which was removed again. At 30, he was referred to our hospital because of swelling and pain in the chest. Histological examination of the chest wall tumor showed epithelioid cells arranged like alveolar pattern with dense collagen stroma. These findings were consistent with those of SEF. Abdominal and the rib tumors showed the same immunohistochemistrical expression. It is noteworthy that the tumor cells of the rib lesion showed increased cellularity, and its Ki-67 activity was higher as compared with the abdominal tumor, suggestive of progression of malignancy of SEF.
A Muscle-Invasive Bladder Cancer Patient With High Tumor Mutational Burden and RB1 Mutation Achieved Bladder Preservation Following Chemotherapy Combined With Immunotherapy: A Case Report
Authors: Chuanzhen Cao, Zhichao Fu, Yueping Liu, Aiping Zhou, Jianfei Wang, Jianzhong Shou
Journal: Front Immunol (2021)
Keywords: bladder-sparing, chemotherapy, immunotherapy, muscle-invasive bladder cancer, next-generation sequencing
MeSH terms: Carcinoma, Transitional Cell / therapy, Muscle Neoplasms / therapy, Retinoblastoma Binding Proteins / genetics, Ubiquitin-Protein Ligases / genetics, Urinary Bladder Neoplasms / therapy, Case Reports, Antibodies, Monoclonal, Humanized, Carcinoma, Transitional Cell / genetics, Carcinoma, Transitional Cell / pathology, Chemoradiotherapy, Humans, Immunotherapy, Male, Middle Aged, Muscle Neoplasms / secondary, Mutation, Neoadjuvant Therapy, Remission Induction, Treatment Outcome, Urinary Bladder Neoplasms / genetics, Urinary Bladder Neoplasms / pathology, Antibodies, Monoclonal, Humanized, RB1 protein, human, Retinoblastoma Binding Proteins, pembrolizumab, Ubiquitin-Protein Ligases

Neoadjuvant chemotherapy followed by radical cystectomy is the standard of care for patients diagnosed with muscle-invasive bladder cancer (MIBC). However, urinary diversion following radical cystectomy significantly reduces patient quality of life. In addition, patients who significantly respond to neoadjuvant chemotherapy have a strong will to preserve the bladder. Bladder-sparing therapy has become a research focus worldwide. Although the bladder-sparing regimen, referred to as trimodality therapy (TMT), has been accepted, the efficacy of immunotherapy combined with chemotherapy for bladder preservation in patients with MIBC has not yet been published. We describe the case of a 50-year-old male presented intermittent macrohematuria and was diagnosed with bladder urothelial carcinoma by diagnostic transurethral resection of bladder tumor (TURBt) with clinical stage IIIA (cT3bN0M0). A complete response was achieved after four courses of neoadjuvant chemotherapy combined with pembrolizumab. Then, we performed a second TURBt plus randomized biopsy by cystoscopy. The pathology indicated no tumor in the bladder. Adjuvant chemoradiotherapy and immunotherapy were subsequently performed. Imaging examinations, cystoscopy and urine tumor DNA (utDNA) levels were used for surveillance after treatment. Finally, the patient achieved bladder preservation and had remained cancer-free for 19 months at the last follow-up on February 20, 2021. This is the first published case study to describe neoadjuvant chemotherapy plus pembrolizumab followed by concurrent chemoradiotherapy as a novel bladder-sparing regimen and successfully achieved a promising outcome.
Endometrioid adenocarcinoma arising from adenomyosis: two case reports and a literature review
Authors: Jiaying Yang, Qiuying Wang, Xiuchen Han, Qian Liu
Journal: Front Surg (2023)
Keywords: adenomyosis, case report, endometrioid adenocarcinoma, long-term follow-up, malignant transformation
MeSH terms: Case Reports

Background:
Endometrioid adenocarcinoma is usually diagnosed by endometrial curettage with a positive rate of 94%, while a hysteroscopic examination can increase the positive rate. Differently, endometrioid adenocarcinoma arising from adenomyosis (EAAFA) is always misdiagnosed, even after endometrial curettage or hysteroscopy. EAAFA is rarely reported.
Case description:
We reported two cases of EAAFA with long-term follow-ups of 9-10 years. The two cases were misdiagnosed even if endometrial curettage or hysteroscopy was performed. One case complained of postmenopausal vaginal bleeding with elevated CA199, and she was diagnosed by fast-frozen pathology during hysterectomy, followed by bilateral salpingo-oophorectomy and pelvic lymphadenectomy. In another case, a premenopausal woman with acquired progressive dysmenorrhea was diagnosed as EAAFA by the histopathological result after a transvaginal hysterectomy and had to undergo reoperation. The FIGO stage was IB in both cases. Chemotherapy or radiotherapy was performed after the operation. Patients were followed up for 9-10 years, with no metastasis or recurrence being observed.
Conclusion:
The diagnosis of EAAFA is always delayed because of tumor-free eutopic endometrium and negative results of the endometrial curettage or hysteroscopy examination. Fast-frozen pathology of the whole uterus helps diagnose EAAFA precisely and avoids reoperation. Adenocarcinoma foci of EAAFA usually involve the myometrium deeply. A better prognosis of EAAFA should be expected due to good differentiation and negative lymphovascular space invasion.
Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
Authors: Ved Bhushan Arya, Qadeer Aziz, Azizun Nessa, Andrew Tinker, Khalid Hussain
Journal: Int J Pediatr Endocrinol (2014)
Keywords: abcc8, congenital hyperinsulinism, diazoxide, hypoglycaemia

Background:
Mutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line medication for CHI, is usually ineffective in recessive ABCC8 mutations. We describe the clinical and molecular characterisation of a recessive ABCC8 mutation in a CHI patient that is diazoxide response.
Clinical case:
A term macrosomic female infant presented with symptomatic persistent hypoglycaemia confirmed to be secondary to CHI. She exhibited an excellent response to moderate doses of diazoxide (10 mg/kg/day). Molecular genetic analysis of the proband confirmed a biallelic ABCC8 mutation - missense R526C inherited from an unaffected mother and a frameshift c.1879delC mutation (H627Mfs*20) inherited from an unaffected father. Follow-up highlighted persistent requirement for diazoxide to control CHI. Functional analysis of mutants confirmed them to result in diazoxide-responsive CHI, consistent with the clinical phenotype.
Conclusion:
Biallelic ABCC8 mutations may result in diazoxide-responsive CHI. Irrespective of the molecular genetic analysis results, accurate assessment of the response to diazoxide should be undertaken before classifying a patient as diazoxide-responsive or unresponsive CHI.
A new device to seal large coronary aneurysms: a case report
Authors: Gian Battista Danzi, Guido Angelo Pomidossi, Filippo Casolo, Marco Centola, Roberto Ferraresi, Chaim Lotan
Journal: J Med Case Rep (2010)

Introduction:
Coronary artery aneurysm is an uncommon disease. It is defined as a coronary artery dilatation, exceeding the diameter of the normal adjacent segment or the diameter of the patient's largest coronary vessel by 1.5 to 2 times. Coronary artery aneurysms are typically diagnosed by coronary angiography. The prognosis of coronary artery aneurysm is not well known and the management is challenging.
Case presentation:
A 68-year-old Italian-Caucasian man presented to our hospital with angina. Coronary angiography revealed a large coronary aneurysm of the right coronary artery, which was successfully treated by the percutaneous implantation of an MGuardTM stent.
Conclusion:
This case report provides evidence that coronary artery aneurysms, even if very large, can be safely treated by MGuardTM stent implantation. We strongly emphasize the high flexibility and good deliverability of this device, which leads to the complete exclusion of the aneurysm mediated by the process of endothelization of its thin mesh sleeves.
A Rare Case Report on Suboccipital Region Benign Giant Osteoma
Authors: Sunil Munakomi, Binod Bhattarai
Journal: Case Rep Neurol Med (2016)

Herein we report a rare case of a giant suboccipital osteoma in a 55-year-old woman presenting primarily due to cosmetic issue. We discuss the management algorithm taken in the patient, highlighting excision of a potentially curable bony tumor only after ruling out its extension to the ear cavity, mastoid ear cells, transverse sinus, and the intracranial compartment.
Venous air embolism leading to cardiac arrest in an infant with cyanotic congenital heart disease
Authors: Scott C Watkins, Lewis McCarver, Alicia Vanbebber, David P Bichell
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

Gas emboli, including venous and arterial, are a rare but important complication of pediatric cardiac surgery. They have the potential to have devastating consequences and require prompt recognition and treatment. We present a case of gas embolism occurring in the immediate postoperative period in an infant with cyanotic congenital heart disease after palliative cardiac surgery resulting in cardiopulmonary arrest. The embolism was diagnosed by visualization of air within the vessel creating an airlock and occluding pulmonary blood flow.
Be(a)ware of Leukocytosis in Papillary Thyroid Cancer
Authors: Styliani Laskou, Konstantinos Sapalidis, Christos Topalidis, Triantafyllia Koletsa, Isaak Kesisoglou
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Leukocytosis can be present at any time during various malignancies. A 42-year-old male was admitted to our department for surgical management of his metastatic papillary thyroid cancer. Persistent white blood cell (WBC) elevation with left shift led to a thorough investigation. Having excluded other causes, leukocytosis was attributed to thyroid cancer itself. Positive immunostaining for IL-6 and CEA, as well as elevated serum levels, established this connection.
Anomalous systemic arterial supply to the left lower lung lobe: A case report
Authors: Zhuo Wu, Baoning Xu, Di Zhou, Xueying Yang
Journal: Front Med (Lausanne) (2022)
Keywords: anomalous systemic arterial supply, case report, coil embolization, lung segment, pulmonary infarction
MeSH terms: Case Reports

Background:
An anomalous systemic arterial supply to the lung lobes is a rare congenital pulmonary vascular malformation. Current treatments include thoracoscopic lobectomy, anatomical segmentectomy, simple ligation and arterial embolization. However, the optimal treatment remains controversial.
Case presentation:
A 29-year-old man was diagnosed with anomalous systemic arterial supply to the left lower lobe through contrast-enhanced computed tomography and three-dimensional reconstruction. He underwent coil embolization of the anomalous artery and was followed up for 1 year.
Conclusions:
Blockage of the blood flow of the anomalous systemic artery alone does not improve the blood supply of the pulmonary artery to lung tissue and thus cannot restore normal gas exchange through the blood-gas barrier. Coil embolization of the anomalous arterial supply can cause early postoperative pulmonary infarction.