OpenMed/multicare-articles huggingface dataset:
Hypercalcemia in upper urinary tract urothelial carcinoma: a case report and literature review
Authors: Keiko Asao, Jonathan B McHugh, David C Miller, Nazanene H Esfandiari
Journal: Case Rep Endocrinol (2013)

Objective. We here report a patient with upper urinary tract urothelial carcinoma with hypercalcemia likely due to elevated 1,25-dihydroxyvitamin D. Methods. We present a clinical case and a summary of literature search. Results. A 57-year-old man, recently diagnosed with a left renal mass, for which a core biopsy showed renal cell carcinoma, was admitted for hypercalcemia of 11.0 mg/mL He also had five small right lung nodules with a negative bone scan. Both intact parathyroid hormone and parathyroid hormone-related peptide were appropriately low, and 1,25-dihydroxyvitamin D was elevated at 118 pg/dL. The patient's calcium was normalized after hydration, and he underwent radical nephrectomy. On the postoperative day 6, a repeat 1,25-dihydroxyvitamin D was 24 pg/mL with a calcium of 8.1 mg/dL. Pathology showed a 6 cm high-grade urothelial carcinoma with divergent differentiation. We identified a total of 27 previously reported cases with hypercalcemia and upper tract urothelial carcinoma in English. No cases have a documented elevated 1,25-dihydroxyvitamin D level. Conclusion. This clinical course suggests that hypercalcemia in this case is from the patient's tumor, which was likely producing 1,25-dihydroxyvitamin D. Considering the therapeutic implications, hypercalcemia in patients with upper urinary tract urothelial carcinoma should be evaluated with 1,25-dihydroxyvitamin D.
Unusual Cushing's Syndrome and Hypercalcitoninaemia due to a Small Cell Prostate Carcinoma
Authors: Antonio Balestrieri, Elena Magnani, Fiorella Nuzzo
Journal: Case Rep Endocrinol (2016)

A 75-year-old man was hospitalized because of severe hypokalaemia due to ACTH dependent Cushing's syndrome. Total body computed tomography (TBCT) and 68 Gallium DOTATATE PET/CT localized a voluminous prostate tumour. A subsequent transurethral prostate biopsy documented a small cell carcinoma positive for ACTH and calcitonin and negative for prostatic specific antigen (PSA) at immunocytochemical study; serum prostatic specific antigen (PSA) was normal. Despite medical treatments, Cushing's syndrome was not controlled and the patient's clinical condition progressively worsened. Surgical resection was excluded; the patient underwent a cycle of chemotherapy followed by febrile neutropenia and fatal intestinal perforation. This case report describes a rare case of Cushing's syndrome and hypercalcitoninaemia due to a small cell carcinoma of the prostate, a rare tumour with very few therapeutic options and negative prognosis.
A Case of Eosinophilic Granulomatosis with Polyangiitis Complicated with A IgG4 Related Disease Like Symptoms
Authors: Suguru Sato, Julia Morimoto, Yasuharu Oguchi, Takashi Umeda, Takaya Kawamata, Mami Rikimaru, Tatsuhiko Koizumi, Ryuichi Togawa, Yasuhito Suzuki, Yuki Sato, Manabu Uematsu, Hiroyuki Minemura, Takefumi Nikaido, Atsuro Fukuhara, Junpei Saito, Kenya Kanazawa, Yoshinori Tanino, Mitsuru Munakata, Yoko Shibata
Journal: Case Reports Immunol (2018)
MeSH terms: Case Reports

We report a case of eosinophilic granulomatosis with polyangiitis (EGPA) complicated with a IgG4 related disease like symptoms presenting as eyelid swellings. In the present case, the serum level of IgG4 and the ratio of IgG4 to IgG were generally increased by the disease course of EGPA. Considering the course of clinical symptoms, there is a possibility that orbital manifestations were one of the clinical features during the disease course of EGPA while the histological features of right eyelid tissue and other ocular manifestations were consistent with the diagnosis of IgG4 related disease.
Lymphatic Drainage of Legs Reduces Edema of the Arms in Children with Lymphedema
Authors: Lívia Maria Pereira de Godoy, Paula Pereira de Godoy Capeletto, Maria de Fátima Guerreiro Godoy, Jose Maria Pereira de Godoy
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Objective:
The aim of the present study is to report on the reduction of edema of lymphedematous arms just by treating the lower limbs.
Methods:
A 16-year-old girl reported that she has started having right lower limb edema at the age of three. At age 13, she performed a lymphoscintigraphy that confirmed the diagnosis of primary lymphedema of the four limbs. Recently she sought treatment at the Clínica Godoy in São Jose do Rio Preto where she was submitted to intensive treatment for eight hours per day for five days using manual (Godoy & Godoy technique) and mechanical lymphatic therapy (RA Godoy®) of the lower limbs, cervical lymphatic therapy (cervical stimulation), and the continuous use of a grosgrain stocking.
Results:
At the end of treatment, reductions in the sizes of both arms and legs were noted even without the use of any specific therapy for the arms. After four years, the size of the arms was normal.
Conclusion:
Treatment of lymphedema of the legs has systemic repercussions that may lead to the reduction in swelling of other untreated regions of the body.
Cerebellar Liponeurocytoma Mimicking Medulloblastoma: Case Report of a Childhood and Literature Review
Authors: Changhui Dong, Yining Jiang, Liyan Zhao, Yubo Wang, Yang Bai, Ying Sun, Yunqian Li
Journal: Front Oncol (2021)
Keywords: case report, cerebellar liponeurocytoma, children, diagnosis, liponeurocytoma, prognosis, treatment
MeSH terms: Case Reports

Background:
Cerebellar liponeurocytoma is a rare benign neoplasm of the central nervous system, which arises mainly in adult patients with only 3 cases reported in children. Due to its rarity, the diagnosis and treatment strategies for cerebellar liponeurocytoma remain unclear. The purpose of this study was to explore the epidemiology, clinical features, imaging findings, pathological characteristics, different diagnoses, treatment, and prognosis of cerebellar liponeurocytoma in juveniles.
Case description:
A 5-year-old boy was admitted to the department of neurosurgery due to a 5-month history of headaches, nausea, vomiting, dizziness, dysphoria, as well as visual blurring associated with the peak of the headache. Magnetic resonance imaging showed a 4.9×5.4×6.2 cm mass located in the fourth ventricle and cerebellar vermis combined with hydrocephalus and periventricular edema. The mass was completely removed, and pathological examination indicated a cerebellar liponeurocytoma of the World Health Organization Grade II classification.
Conclusion:
The present study was the first to report a cerebellar liponeurocytoma with total tumor resection and adjuvant radiotherapy in a pediatric patient. Total tumor resection and postoperative radiotherapy together with close and long-term follow-up seem to be the optimal treatment strategy for juvenile patients. However, the side-effect of radiation needs to be considered.
Acute Anterior Uveitis with HLA-B27 Positivity after Corneal Cross-Linking with Previous Intrastromal Corneal Ring Segment
Authors: Asher Khan, Charles D McGuffey, Andrew T Melson, Kamran M Riaz
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Purpose. To describe a case of acute anterior uveitis (AAU) with HLA-B27 positivity following epithelium-off corneal cross-linking (CXL) in a patient with a previous intrastromal corneal ring segment. Observations. A 28-year-old male with keratoconus (KCN) developed ophthalmalgia, perilimbal injection, hypopyon, and decline in corrected distance visual acuity (CDVA) 3 days after CXL. A working diagnosis of inflammatory versus infectious AAU was made, and the patient was treated with topical tobramycin, polymyxin B/trimethoprim, prednisolone, and oral valacyclovir. Clinical appearance and CDVA improved, ultimately returning to baseline by two weeks postoperatively. Diagnostic laboratory workup revealed HLA-B27 positivity. Conclusions and Importance. A comprehensive laboratory workup is helpful to identify potential causative and associated systemic conditions when encountering AAU after CXL. Given the overlap in patient demographics for KCN and HLA-B27 positivity, clinicians should consider this entity in the differential diagnosis and treatment of such cases.
Long-term survival following total pancreatectomy and superior mesenteric-portal vein resection for pancreatic ductal adenocarcinoma: A case report
Authors: Han-Xing Tong, Lei Zhang, Ye-Fei Rong, Dan-Song Wang, Tian Tao Kuang, Xue-Feng Xu, Wen-Hui Lou, DA-Yong Jin
Journal: Oncol Lett (2015)
Keywords: long-term survival, pancreatic ductal adenocarcinoma, superior mesenteric-portal vein resection

Pancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer with few therapeutic options. At present, surgical resection remains the only potential curative treatment for PDAC. However, only 15-20% of patients with PDAC are eligible for lesion resection. Total pancreatectomy (TP) and superior mesenteric-portal vein resection (SMPVR) may increase the rate of resection of PDCA, but the effect of this approach on improving long-term patient outcomes remains controversial. The present study investigated a case of PDAC in the pancreatic neck of a male patient. The patient underwent a TP, combined with SMPVR, for a margin-negative resection. Following an uneventful post-operative recovery, the patient received adjuvant chemoradiotherapy. The patient is currently alive at six years post-surgery, with a high quality of life. Given the clinical outcome of this patient, TP combined with SMPVR may provide PDAC patients with an opportunity for long-term survival. Therefore, patients with PDAC that is believed to be unresectable based on pre-operative assessment, may benefit from TP and SMPVR.
Allergy to sunflower seed and sunflower butter as proposed vehicle for sensitization
Authors: Elana Lavine, Moshe Ben-Shoshan
Journal: Allergy Asthma Clin Immunol (2015)
Keywords: allergy, risk factors, sunflower seed

Background:
It is hypothesized that household exposure to allergenic proteins via an impaired skin barrier, such as atopic dermatitis, may contribute to the development of IgE sensitization. Household presence of peanut is a risk factor for the development of peanut allergy in children. Sunflower seed butter is a peanut-free alternative to peanut butter, and sunflower seed allergy is an uncommon but reported entity.
Case presentation:
A 3 year old boy presented with oral discomfort that developed almost immediately after he ate sunflower seeds for the first time. He was given a dose of diphenhydramine. Subsequently he vomited, and his symptoms gradually resolved. A similar episode occurred to a commercial snack made with sunflower seed butter. Skin prick testing demonstrated a large positive (10 mm wheal) wheal-and-flare response to a slurry of fresh sunflower seed within 3-4 minutes associated with severe pruritus. This child has an older sibling with confirmed peanut allergy (PNA). After the PNA diagnosis was made, the family home became peanut-free. In lieu of peanut butter, sunflower butter was purchased and eaten frequently by family members, but not by the child reported herein. Subsequent to the episodes above, the child ate a bread roll with visible poppy seeds and developed itchy throat, dyspnea, and urticaria. Epicutaneous skin testing elicited a >10 mm wheal size within 3-4 minutes in response to a slurry of whole poppy seeds and 8 mm to fresh pumpkin seed, which had never been consumed.
Conclusions:
A case of sunflower allergy in the context of household consumption of sunflower butter has not yet been reported. We suggest that homes which are intentionally peanut-safe may provide an environment whereby infants with impaired skin barrier are at increased risk of allergy to alternative "butter" products being used, via cutaneous exposure to these products preceding oral introduction to the child.
A curious case of persistently relapsing hyperkalemia in an ESRD patient on maintenance hemodialysis following bioprosthetic aortic valve replacement - a potential case for the use of the new agent, patiromer, for hyperkalemia management
Authors: Macaulay Amechi Chukwukadibia Onuigbo, Nneoma Agbasi, Fidelis Oguejiofor, Charles Odenigbo
Journal: J Renal Inj Prev (2016)
Keywords: aortic valve replacement (avr), arrhythmia, hemodialysis, hyperkalemia, patiromer, prosthetic valves
MeSH terms: Case Reports

Hyperkalemia is not uncommon in patients with end-stage renal disease (ESRD) on maintenance hemodialysis, often related to dietary indiscretion, following the prolonged inter-dialytic weekend interval in patients on thrice weekly hemodialysis treatments, and sometimes the adverse effects of medications such as RAAS blocking agents. Moreover, hyperkalemia following extended cardiac surgery can result from the use of high-potassium containing cardioplegic solutions used during cardiopulmonary bypass. Nevertheless, different from the foregoing, in the nephrology literature, there have been very rare reports of potentially life-threatening hyperkalemia following cardiac valve replacement procedure. We recently encountered an unusual case of persistent relapsing hyperkalemia complicating aortic valve replacement (AVR) in a 53-year-old obese Caucasian male patient despite repeated daily intermittent hemodialysis treatments. Our case report is the first to clearly demonstrate the yo-yo recurrence of newly observed episodes of hyperkalemia reappearing despite repeated treatments.
Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report
Authors: Ying Wang, Qingnan He, Xiqiang Dang, Xiaochuan Wu, Xiaoyan Li
Journal: Front Pediatr (2023)
Keywords: atp7b, alport syndrome, col4a5, wilson's disease, hematuria, proteinuria
MeSH terms: Case Reports

Background:
Alport syndrome (AS) and Wilson's disease (WD) are genetic diseases that could lead to kidney damage. Herein, we report the clinical features and gene variants in a patient with WD and X-linked AS.
Case presentation:
The proband was a 12-year-old boy diagnosed with AS coexisting with WD at the age of 11 years. The patient underwent a medical check-up when he was 4 years and 8 months. Laboratory tests revealed elevated liver enzymes, decreased serum ceruloplasmin, increased 24-h urinary copper excretion, and one variant in the ATP7B gene. Then, the patient was diagnosed with WD. After 2 months of treatment with D-penicillamine and zinc salt, his liver function had recovered to normal levels, but he presented with microscopic hematuria. The hematuria did not resolve after switching to dimercaptosuccinic acid from D-penicillamine. In addition, he presented with proteinuria 3 years later. A renal biopsy was performed more than 6 years after the patient was diagnosed with WD, and electron microscopy showed that the basement membrane thickness was uneven, layered, and focal torn. Copper staining was negative. A genetic analysis identified a hemizygous variant (c.1718G > A, p. Gly573Asp) in COL4A5 and a homozygous variant (c.2975C > T, p. Pro992leu) in ATP7B. The patient's urine protein-creatinine ratio was less than 1.0 mg/mg after a 1 year of follow-up, after enalapril was administered for treating AS.
Conclusion:
This case highlights a lack of improvement in renal function after conventional treatment provides a possible indication for performing renal biopsy or genetic testing to determine the etiology in order to facilitate subsequent clinical management. Clinicians should prevent the occurrence of diagnostic inaccuracies caused by diagnostic anchoring because an accurate diagnosis is essential for achieving precise treatment and improved prognosis.
Cutaneous geotrichosis due to Geotrichum candidum in a burn patient
Authors: Sarah Keene, Manbeer S Sarao, Philip J McDonald, Jennifer Veltman
Journal: Access Microbiol (2019)
Keywords: antifungal therapy, burn, geotrichosis, immunocompromise, invasive fungal infection
MeSH terms: Case Reports

Geotrichum candidum is a saprophytic yeast known to colonize the human skin, respiratory tract and gastrointestinal tract. It can cause local or disseminated disease (geotrichosis), mainly in the immunocompromised host. Trauma, indwelling catheter use, prolonged broad-spectrum antibiotic treatment and critical illness have also been implicated as risk factors. Here we report the first case, to our knowledge, of cutaneous G. candidum infection in a burn patient. The isolate had a high amphotericin B minimum inhibitory concentration (MIC) and the patient experienced concomitant Candida orthopsilosis fungaemia, and so was treated with a combination of voriconazole and micafungin. This case highlights the importance of source control, rapid identification of G. candidum infection and MIC determination to guide antifungal therapy, which typically consists of amphotericin B with or without flucytosine or voriconazole alone. Clinicians should be aware of geotrichosis as a clinical entity in burn patients as well as in the immunocompromised. Antifungal resistance and breakthrough disease are an ongoing concern due to the increasing number of immunocompromised at-risk patients and the use of routine mould prophylaxis.
Neuropsychiatric Manifestations of Partial Agenesis of the Corpus Callosum: A Case Report and Literature Review
Authors: Olusegun Popoola, Olaniyi Olayinka, Heela Azizi, Chiedozie Ojimba, Tasmia Khan, Jisha Kallikkadan, Maleeha Ahmad, Joshua Jay, Cecilia Canale, Sherina Langdon, Alexa Kahn, Deepa Nuthalapati, Sinthuja Jayaraj, Ayesha Mahbub, Olalekan Olaolu, Kodjovi Kodjo, Tolu Olupona, Carolina Nisenoff, Ayodeji Jolayemi
Journal: Case Rep Psychiatry (2019)
MeSH terms: Case Reports

Agenesis of the corpus callosum is a rare congenital defect that has been linked to psychiatric disorders, cognitive deficits, learning disabilities, and developmental delays. We present the case of a patient with partial agenesis of the corpus callosum who exhibits depressed mood, transient loss of memory, and history of cognitive, social, and behavioral disturbances that developed during his childhood. Recent and pertinent literature was reviewed and the agenesis of the corpus callosum and its associated neuropsychiatric manifestations are discussed.
Primary mammary small-cell carcinoma: A case report and review of the literature
Authors: Altaf Gauhar Haji, Shekhar Sharma, D K Vijaykumar, Poulome Mukherjee, R Manoj Babu, K Chitrathara
Journal: Indian J Med Paediatr Oncol (2009)
Keywords: small cell carcinoma, mammary, neuroendocrine tumor
MeSH terms: Case Reports

Only a few cases of primary small-cell carcinoma of the breast have been documented in the current medical literature. A confident diagnosis can only be made if a nonmammary site is excluded or if an in-situ component can be demonstrated histologically. These criteria have been met only in a very few of the published cases, including this case report. We describe a case of a 68-year-old lady with left breast lump, which was diagnosed as breast cancer on fine-needle aspiration and core biopsy. Metastatic workup was negative for disease elsewhere, and she received 3 cycles of neoadjuvant chemotherapy followed by surgery (modified radical mastectomy). However, the disease behaved very aggressively in the postoperative period. There is a lack of consensus regarding the management of the primary tumor. Present surgical treatment options are similar to those in cases of invasive ductal breast cancer, as appropriate for the size and stage of the lesion. A review of current literature on his rare entity is also presented.
Female Urethral Diverticulum Carcinoma: A Case Report and Literature Review
Authors: Ryo Kasahara, Tadashi Tabei, Yukio Tsuura, Kazuki Kobayashi
Journal: Case Rep Urol (2017)
MeSH terms: Case Reports

A 48-year-old woman with a history of voiding difficulty visited our hospital. Magnetic resonance imaging revealed a periurethral tumor, which was pathologically diagnosed as an adenocarcinoma via transperineal needle biopsy. Radical cystectomy and urethrectomy were performed, and the urinary tract was reconstructed using an ileal conduit. Pathological examination of a resected specimen confirmed adenocarcinoma of the urethral diverticulum. The patient received adjuvant gemcitabine and cisplatin chemotherapy. She is alive at 5 months since the operation.
Surgical management of intramuscular hemangioma of the foot: a case report
Authors: K Lahrach, S Abdulrazak, A Marzouki, F Boutayeb
Journal: Patient Saf Surg (2019)
Keywords: excision, hemangioma, intramuscular, plantar, sclerotherapy
MeSH terms: Case Reports

Background:
Hemangiomas are benign tumors usually found in the lower extremity yet their surgical management on the location in the foot is rarely documented.
Case presentation:
We report a case of a plantar intramuscular hemangioma in 25-year-old patient with a history of percutaneous therapy. Patient had undergone intralesional sclerotherapy 3 years prior to his admission with persistent pain on weight bearing activities.MRI demonstrated a multi lobulated lesion of the 1st IMS with a peripheral enhancement on gadolinium injection. The patient underwent elective surgery with complete excision and no functional impairment at the last follow-up 3 years after surgery.
Conclusion:
Intramuscular hemangiomas are rare occurrences. Steroid injection and sclerotherapy are effective non-operative methods. Complete excision of isolated hemangioma lesions allows definite diagnosis with no recurrence.
Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature
Authors: S Ricci, S Abu-Rumeileh, N Campagna, F Barbati, S Stagi, C Canessa, L Lodi, B Palterer, L Maggi, A Matucci, A Vultaggio, F Annunziato, C Azzari
Journal: Front Immunol (2023)
Keywords: nfkb1, common variable immunodeficiency, growth hormone, short stature, whole exome sequencing
MeSH terms: Common Variable Immunodeficiency / diagnosis, Common Variable Immunodeficiency / genetics, Immunologic Deficiency Syndromes, Case Reports, Research Support, Non-U.S. Gov't, Child, Female, Frameshift Mutation, Haploinsufficiency, Humans, Mothers, NF-kappa B p50 Subunit / genetics, NFKB1 protein, human, NF-kappa B p50 Subunit

We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient's mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH - IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.