OpenMed/multicare-articles huggingface dataset:
Neonatal presentation of a patient with Liddle syndrome, South Africa
Authors: Nicolene Steyn, Bettina Chale-Matsau, Aron B Abera, Gertruida van Biljon, Tahir S Pillay
Journal: Afr J Lab Med (2023)
Keywords: liddle syndrome, epithelial sodium channels, genetic sequencing, hypertension, hypoaldosteronism, hyporeninaemia
MeSH terms: Case Reports

Introduction:
Liddle syndrome is an autosomal dominantly inherited disorder usually arising from single mutations of the genes that encode for the alpha, beta and gamma epithelial sodium channel (ENaC) subunits. This leads to refractory hypertension, hypokalaemia, metabolic alkalosis, hyporeninaemia and hypoaldosteronism, through over-activation of the ENaC.
Case presentation:
We describe a 5-day old neonate who presented with severe hypernatraemic dehydration requiring admission to Steve Biko Academic Hospital in South Africa in 2012. Further evaluation revealed features in keeping with Liddle syndrome. Two compound heterozygous mutations located at different subunits encoding the ENaC were detected following genetic sequencing done in 2020. The severe clinical phenotype observed here could be attributed to the synergistic effect of these known pathological mutations, but may also indicate that one of the other variants detected has hitherto undocumented pathological effects.
Management and outcome:
This child's treatment course was complicated by poor adherence to therapy, requiring numerous admissions over the years. Adequate blood pressure control was achieved only after the addition of amiloride at the end of 2018, which raised the suspicion of an ENaC abnormality.
Conclusion:
To our knowledge, this is the first Liddle syndrome case where a combined effect from mutations resulted in severe disease. This highlights the importance of early recognition and management of this highly treatable genetic disease to prevent the grave sequelae associated with long-standing hypertension. Whole exome sequencing may assist in the detection of known mutations, but may also unveil new potentially pathological variants.
What this study adds:
This study highlights the importance of developing a high index of suspicion of tubulopathy such as Liddle syndrome for any child presenting with persistent hypertension associated with hypokalaemic metabolic alkalosis.
CSF HIV RNA Escape in Opsoclonus-Myoclonus-Ataxia Syndrome: Case Report and Review of the Literature
Authors: Pierre Cabaraux, Arthur Poncelet, Jérome Honnorat, Remy Demeester, Soraya Cherifi, Mario Manto
Journal: Front Neurol (2020)
Keywords: csf escape, hiv, cerebellum, opsoclonus myoclonus ataxia syndrome, sinus thrombosis
MeSH terms: Case Reports

Background: Human immunodeficiency viruses (HIV) infection is associated with a broad range of neurological manifestations, including opsoclonus-myoclonus ataxia syndrome (OMAS) occurring in primary infection, immune reconstitution syndrome or in case of opportunistic co-infection. Case: We report the exceptional case of a 43-year-old female under HIV treatment for 10 years who presented initially with suspected epileptic seizure. Although the clinical picture slightly improved under anti-epileptic treatment, it was rapidly attributed to OMAS. The patient exhibited marked opsoclonus, mild dysarthria, upper limbs intermittent myoclonus, ataxia in 4 limbs, truncal ataxia, and a severe gait ataxia (SARA score: 34). The diagnostic work-up showed radiological and biological signs of central nervous system (CNS) inflammation and cerebral venous sinus thromboses. The HIV viral load was higher in cerebrospinal fluid (CSF) than in the blood (4,560 copies/ml vs. 76 copies/ml). She was treated for 5 days with pulsed corticotherapy. Dolutegravir and anticoagulation administration were initiated. Follow-ups at 2 and 4 months showed a dramatic improvement of clinical neurologic status (SARA score at 4 months: 1), reduction of CNS inflammation and revealed undetectable CSF and serum viral loads. Conclusion: This case underlines the importance of the evaluation of the CSF viral load in HIV patients developing OMAS and suggests CSF HIV RNA escape as a novel cause for OMAS.
Case Report: Purple urine bag syndrome in woman with neurogenic bladder
Authors: Senohadi Boentoro, Nugroho Budi Utomo
Journal: F1000Res (2019)
Keywords: elderly woman, indwelling catheter, neurogenic bladder, purple urine bag syndrome
MeSH terms: Catheters, Indwelling / adverse effects, Urinary Bladder, Neurogenic / diagnosis, Urinary Tract Infections, Case Reports, Aged, Color, Female, Humans, Indigo Carmine, Indonesia, Middle Aged, Syndrome, Urine, Indigo Carmine

Purple urine bag syndrome (PUBS) is a rare phenomenon in patients that is associated with the use of a long-term/indwelling urinary catheter. The purple color results from indigo and indirubin, accumulated from bacteria-mediated tryptophan conversion. High risk patients include: the elderly; women; immobilized patients; patients with an indwelling catheter, chronic constipation, alkaline urine or poor hygiene; and those with catheter bags and tubes made of certain types of plastic. We reported PUBS in an elderly woman with an indwelling catheter and chronic constipation which, to our knowledge, was the first case in our hospital. The patient underwent urinary catheter change and received intravenous ciprofloxacin, following which the urine returned to a yellow color and the patient was discharged. This case report describes the diagnosis, management and also strategies for the prevention of PUBS in Gatot Soebroto Army Hospital, Indonesia.
Reverse Cast Metallic Core Based on the Original Prosthetic Crown
Authors: Eliana de Souza Bastos Mazuqueli Pereira, Fernando Accetturi, Rachel Gomes Eleutério, Daniela Vieira Buchaim, Rogério Leone Buchaim, Juliana Trindade Clemente-Napimoga
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

The dental crown can be restored using the root in clinical situations where the dental remnant allows adequate anchorage by the use of an intraradicular retainer. After endodontic treatment, reconstruction of the dental anatomy depends on correct planning and the type of restoration to be used. This requires reestablishment of form and function with creation of anchoring features, avoiding detachment and favoring the distribution of forces, thus preventing fracture of the remnant due to functional and parafunctional forces applied on the tooth. This paper reports the clinical case of a patient who sought dental care for a full metal-ceramic crown with a cast metallic core with reduced length that had been detached from tooth 24. After clinical and radiographic examination, root integrity was verified. The patient was offered reconstruction with a cast metallic core of satisfactory length, providing adequate retention and support, with reutilization of the original prosthetic crown, serving as a reverse template of the coronal portion of this new core, providing reduction in costs and operational time.
Impact of Jiggling Exercise as Conservative Treatment for Hip Osteoarthritis: A Report of Two Cases
Authors: Yohei Teramoto, Kensuke Fukushima, Tomohisa Koyama, Yoshihisa Ohashi, Katsufumi Uchiyama, Naonobu Takahira, Masashi Takaso
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Total hip arthroplasty has been recognized as a feasible treatment for hip osteoarthritis, especially in advanced and terminal stages, but whether it is the best treatment for patients who are younger, have comorbidities, and/or are likely to have low compliance to medical treatment is unknown. Jiggling exercise, which involves the continuous shaking of the foot and leg in small steps, has been reported to be the easiest and a less invasive exercise for patients with hip osteoarthritis. We herein report two patients who performed jiggling exercise as conservative treatment and had successful outcomes. The first case was a 28-year-old woman with advanced-stage hip osteoarthritis that could not be treated with hip preservation surgery; furthermore, the patient refused to undergo total hip arthroplasty because of her young age. The second case was a 74-year-old woman with terminal-stage hip osteoarthritis in whom total hip arthroplasty was deemed not feasible because of possible low compliance due to mental disorder. One year after the initiation of the jiggling exercise, both patients had remarkable clinical improvement. Three years later, remarkable joint remodelling was also revealed in plain radiographs. Jiggling exercise might be a feasible conservative treatment option for joint preservation.
Ultrasound-guided glenohumeral joint injections for shoulder pain in ALS: A case series
Authors: Katherine M Burke, Amy S Ellrodt, Benjamin C Joslin, Pia P Sanpitak, Claire MacAdam, Prabhav Deo, Kevin Ozment, Cristina Shea, Stephen A Johnson, Doreen Ho, Samuel K Chu, Ashwin N Babu, Colin K Franz, Sabrina Paganoni
Journal: Front Neurol (2023)
Keywords: adhesive capsulitis, amyotrophic lateral sclerosis, frozen shoulder, motor neuron disease, shoulder pain
MeSH terms: Case Reports

Introduction:
Shoulder pain is a common secondary impairment for people living with ALS (PALS). Decreased range of motion (ROM) from weakness can lead to shoulder pathology, which can result in debilitating pain. Shoulder pain may limit PALS from participating in activities of daily living and may have a negative impact on their quality of life. This case series explores the efficacy of glenohumeral joint injections for the management of shoulder pain due to adhesive capsulitis in PALS.
Methods:
People living with ALS and shoulder pain were referred to sports medicine-certified physiatrists for diagnostic evaluation and management. They completed the Revised ALS Functional Rating Scale and a questionnaire asking about their pain levels and how it impacts sleep, function, and quality of life at baseline pre-injection, 1-week post-injection, 1 month post-injection, and 3 months post-injection.
Results:
We present five cases of PALS who were diagnosed with adhesive capsulitis and underwent glenohumeral joint injections. Though only one PALS reported complete symptom resolution, all had at least partial symptomatic improvement during the observation period. No complications were observed.
Conclusions:
People living with ALS require a comprehensive plan to manage shoulder pain. Glenohumeral joint injections are safe and effective for adhesive capsulitis in PALS, but alone may not completely resolve shoulder pain. Additional therapies to improve ROM and reduce pain should be considered.
Primary renal lymphoma-a case report
Authors: N Geetha, Abdul Shahid, Varun Rajan, Priya Mary Jacob
Journal: Ecancermedicalscience (2014)
Keywords: kidney, nhl
MeSH terms: Case Reports

Primary renal lymphoma is a rare entity representing less than 1% of lesions in the kidney. We present the case of a 42-year-old male who was evaluated for pain and a mass in the abdomen. The computed tomogram of the abdomen showed a large lobulated homogeneously enhancing mass lesion of about 14×12×18 cm, involving the whole of the left kidney and encasing the left renal vessels and ureter. The patient underwent a biopsy, and the histopathology was diffuse large B cell lymphoma, positive for LCA, CD20, PAX 5, Bcl 2 and negative for SIgM, CD33, CD34, CD5, Tdt, with MIB 1 labelling index of 40%. He received chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R CHOP) for eight cycles followed by radiation to the residual mass and achieved complete remission. Currently, he is alive and in remission at 28 months.
Acute carbon monoxide poisoning with severe cardiopulmonary compromise: a case report
Authors: Chang-Teng Wu, Jing-Long Huang, Shao-Hsuan Hsia
Journal: Cases J (2009)

Introduction:
Carbon monoxide (CO) is a colorless, odorless gas produced as a by-product of incomplete combustion, and a common source is the fuel used for heating water in homes. The clinical presentation of CO poisoning may be mild, moderate, or severe.
Case presentation:
This paper describes carbon monoxide (CO) poisoning in a 15-year-old child who suffered from severe cardiopulmonary compromise without overt neuropsychiatric sequelae. This occurred after he was exposed to a home heater producing high levels of carbon monoxide for an estimated six to eight hours. CO-induced cardiopulmonary compromise is infrequent in children.
Conclusion:
In this case, prolonged exposure to CO resulted in a high carboxyhemoglobin (COHb) concentration, but the child recovered without overt sequelae, despite severe cardiopulmonary compromise.
Primary Giant Cell Tumor of the Breast With Pulmonary Metastasis: A Case Report and Review of the Literature
Authors: Wenxiang Zhang, Xiangyi Kong, Yihang Qi, Xiangyu Wang, Qiang Liu, Yi Fang, Yan Song, Jing Wang
Journal: Front Oncol (2021)
Keywords: breast tumor, diagnosis, giant cell tumor of soft tissue, prognosis, treatment
MeSH terms: Case Reports

Giant cell tumor of soft tissue (GCT-ST) is an extremely rare tumor that is similar in morphology and immunohistochemistry to giant cell tumor of the bone. Almost 80% of these tumors occur in the upper and lower extremities, and the breast is a very rare location. Here, we report a case of a 65-year-old female patient with a small mobile palpable lump in the left breast. Although the left breast tumor was considered malignant on preoperative imaging, no evidence of malignant tumor was found by ultrasound-guided core needle biopsy (CNB). Subsequently, the left breast tumor was confirmed as a malignant tumor by intraoperative rapid pathological examination. The initial treatment of the tumor was wide local excision and sentinel lymph node biopsy, and it was confirmed to be GCT-ST by histopathology and immunohistochemistry. Despite surgical treatment achieving clear surgical margins, the patient experienced lung metastases within a year of her initial treatment. Fortunately, the patient underwent surgical treatment of lung metastases, and at the last follow-up, the patient was still alive. This is the first case of a primary soft tissue tumor of the breast that has undergone surgical intervention after lung metastasis. This case report highlights the complexity of the clinical diagnosis and treatment of GCT-ST arising from the breast. Surgery may be another good treatment when the patient develops lung metastases.
Two Different Extranodal Lymphomas in an HIV+ Patient: A Case Report and Review of the Literature
Authors: Clara Bertuzzi, Elena Sabattini, Francesco Bacci, Claudio Agostinelli, Gian Gaetano Ferri
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Human immune deficiency virus- (HIV-) infected individuals present a higher risk of developing malignancies. Herein, we are presenting an unusual case of an untreated HIV+ patient, who developed two distinct lymphoproliferative disorders in a period of 4 years: a primary cutaneous T-cell lymphoma (PCTCL) and a diffuse large B-cell lymphoma (DLBCL) not otherwise specified (NOS), the latter developed while commencing combined antiretroviral therapy (cART). The two lymphomas also showed peculiar features: PCTCL are rarely described in HIV+ setting and particularly at such a low clinical stage, and the DLBCL showed uncommon cytology, non-GCB phenotype, EBER negativity, and absence of c-MYC translocation, all atypical features in this clinical context. This report not only confirms the increased risk of lymphoma for HIV+ patients and HIV infection being one of the major risk factors for lymphoid disorders but draws the attention on the possible occurrence of unusual features, suggesting that HIV serology should always be investigated in the clinical suspicion of lymphoma.
Dermatomyositis Associated with Myelofibrosis following Polycythemia Vera
Authors: Naomi Fei, Sarah Sofka
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Dermatomyositis (DM) is a unique inflammatory myopathy with clinical findings of proximal muscle weakness, characteristic rash, and elevated muscle enzymes. The association of DM and malignancy, most commonly adenocarcinoma, is well known. There have been few case reports of primary myelofibrosis associated with DM. We present the case of a 69-year-old male with a history of polycythemia vera (PV) who developed proximal muscle weakness, dysphagia, and rash. He was found to have elevated creatinine kinase and skin biopsy was consistent with DM. Due to persistent pancytopenia a bone marrow biopsy was performed and showed postpolycythemic myelofibrosis. To our knowledge, this is the first case reported of this unique association.
Sclero-Hyalinized Low-Grade Appendiceal Mucinous Neoplasm Clinically Mimicking an Ovarian Mass
Authors: Nnaemeka Thaddeus Onyishi, Anthony Jude Edeh, Ngozi Regina Dim
Journal: Case Rep Pathol (2022)
MeSH terms: Case Reports

Low-grade appendiceal mucinous neoplasm is a tumor of the appendix whose major clinical relevance derives from its inherent potential for peritoneal dissemination as pseudomyxoma peritonei. It sometimes poses challenges in clinical, radiological, and pathological diagnosis, and it may be confused with gynecological conditions in females. We report a case of low-grade appendiceal mucinous neoplasm presenting as firm sclerotic cystic mass and was initially suspected to be an ovarian mass in a postmenopausal woman. We review the literature for the pathogenesis and clinical implication of sclerohyalinization in mucinous appendiceal tumors.
An unusual etiology of bilateral pulmonary nodules: Another challenge of hide and seek
Authors: Anam M Elarabi, Mousa Hussein, Aisha Aladab
Journal: Respir Med Case Rep (2021)
Keywords: extraskeletal chondrosarcoma, penile tumor, pulmonary metastases
MeSH terms: Case Reports

An elderly gentleman presented with bilateral pulmonary nodules found incidentally during the workup of acute pancreatitis. He did not have any respiratory or urogenital symptoms. A biopsy of the lung nodule revealed myxoid mesenchymal neoplasm of extraosseous origin. As the patient was asymptomatic, only the increased uptake in the penile shaft base on the whole-body PET-CT study yielded a diagnosis of primary penile chondrosarcoma after biopsy. A rare presentation of chondrosarcoma in an elderly gentleman highlighting the importance of obtaining a histopathological specimen, as the prognosis of metastatic diseases is widely variable.
Case Report: Good cardiac tolerance to Toripalimab in a CVD patient with oral melanoma
Authors: Wei Pan, Li Yin, Yadi Guo, Dachao Pan, Hui Huang
Journal: Front Pharmacol (2022)
Keywords: arrhythmic mitral valve prolapse, cancer treatment, cardiovascular toxicity, immunotherapy, melanoma
MeSH terms: Case Reports

Primary oral melanoma is extremely rare, and the prognosis is very poor. With the development of immunotherapy, melanoma's treatment landscape changed dramatically. Toripalimab, a recombinant programmed death receptor 1 (PD-1) monoclonal antibody, has been approved as second-line therapy for metastatic melanoma. However, the cardiac toxicity of Toripalimab is seldom reported. This article describes the application of Toripalimab on a patient who suffered from primary oral melanoma accompanied with arrhythmic mitral valve prolapse (AMVP). Case Summary: A 55-year-old Chinese female was diagnosed with BRAF wild-type oral malignant melanoma by excisional biopsy and genetic test. The melanoma quickly progressed after complete tumor resection. Combined therapy after surgical resection was applied to control the progression of melanoma. Due to this patient's basic cardiovascular situation, sacubitril-valsartan, spironolactone, and bisoprolol were used to maintain cardiac function. After five antitumor treatment courses, we re-evaluated the patient systemically from the symptom, physical examination, and auxiliary examination. The result showed that the patient who received Toripalimab combined with chemotherapy and radiotherapy did not present severe side effects on the cardiovascular system. The cardiac function remained well. Conclusions: This case provided evidence of Toripalimab combined with chemotherapy on melanoma patients with complex cardiovascular diseases. Toripalimab demonstrated a manageable safety profile and durable clinical response. In addition, the standard CHF treatment plays a vital role in the protection of cardiac function. In a cancer patient with complex cardiovascular diseases, standard prophylactic CHF treatment should be applied at an early stage.
Case Report: Successful Chimeric Antigen Receptor T Cell Therapy in Haploidentical-Allogeneic Stem Cell Transplant Patients With Post-Transplant Lymphoproliferative Disorder
Authors: Nan Yan, Na Wang, Peiling Zhang, Gaoxiang Wang, Xia Mao, Dan Peng, Dong Kuang, Liting Chen, Li Zhu, Jianfeng Zhou, Yicheng Zhang, Yang Cao
Journal: Front Oncol (2021)
Keywords: all, car-t, ebv, hsct, ptld
MeSH terms: Case Reports

Background:
Epstein-Barr virus-associated post-transplant lymphoproliferative disorder (EBV-PTLD) is a potentially fatal complication after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Rituximab has been proven to dramatically improve the prognosis of patients with EBV reactivation and PTLD. However, reports on the curative management of refractory PTLD are scarce.
Case presentation:
In this report, we describe the successful management of two patients with EBV-PTLD with chimeric antigen receptor T-cell (CAR-T) therapy.
Conclusion:
The present results demonstrated that patients with EBV-PTLD may benefit from CAR-T therapy and that the toxicity is manageable. Further studies are needed to verify these findings.
Hypercalcemia-induced acute kidney injury in a Caucasian female due to radiographically silent systemic sarcoidosis
Authors: Ramy M Hanna, Marian Kaldas, Farid Arman, Melissa Wang, Terrance Hammer, Deren Sinkowitz, Anjay Rastogi
Journal: Clin Nephrol Case Stud (2018)
Keywords: acute kidney injury, granuloma, hypercalcemia, hypervitaminosis d, sarcoidosis
MeSH terms: Case Reports

. Sarcoidosis is a rare autoimmune disease resulting in formation of non-necrotizing "non-caseating" granulomas generally in the lung. The disease classically strikes African American females in their fourth and fifth decades. The resulting hypercalcemia is a result of 1-α hydroxylase overexpression in granulomas with increased 1,25-dihydroxy vitamin D levels. This phenomenon can also be observed in mycobacterial and fungal infections that produce granulomas in infected patients. Thus, chronic infectious diseases are part of differential diagnosis of granulomatous processes. We present an elderly Caucasian female who presented with hypercalcemia with serum calcium of 11 - 14 mg/dL and an elevated ionized calcium of 1.4 - 1.5 mmol/L. Initially cholecalciferol supplements were stopped, but hypercalcemia persisted for more than 2 months. 1,25-dihydroxy vitamin D levels were markedly elevated with low normal 25-hydroxy vitamin D levels, angiotensin-converting enzyme levels were also high, and chest computed tomography (CT) imaging was negative for any lymphadenopathy (including perihilar lymphadenopathy). Malignancy and infectious workups were negative for fungal and mycobacterial infections. Positron emission tomography revealed several small lymph nodes in right upper lobe of lung, and biopsy of bone marrow and lung lymph-nodes revealed non-caseating granulomata. We present an atypical case of occult sarcoidosis presenting mainly with biochemical findings without any definitive imaging findings, making diagnosis a clinical challenge.