OpenMed/multicare-articles huggingface dataset:
A 61-year-old man with dyspepsia and weight loss
Authors: Catherine Burton
Journal: PLoS Med (2005)
MeSH terms: Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Dyspepsia / etiology, Lymphoma, B-Cell / pathology, Lymphoma, Large B-Cell, Diffuse / pathology, Case Reports, Antibodies, Monoclonal / administration & dosage, Antibodies, Monoclonal, Murine-Derived, Antineoplastic Combined Chemotherapy Protocols / administration & dosage, Cyclophosphamide / administration & dosage, Diagnosis, Differential, Doxorubicin / administration & dosage, Humans, Lymphoma, B-Cell / complications, Lymphoma, B-Cell / drug therapy, Lymphoma, Large B-Cell, Diffuse / complications, Lymphoma, Large B-Cell, Diffuse / drug therapy, Male, Middle Aged, Prednisolone / administration & dosage, Rituximab, Stomach Neoplasms / diagnosis, Vincristine / administration & dosage, Weight Loss, Antibodies, Monoclonal, Antibodies, Monoclonal, Murine-Derived, Rituximab, Vincristine, Doxorubicin, Cyclophosphamide, Prednisolone, VAP-cyclo protocol

In this case-based Learning Forum, Burton takes clinicians through the key steps in diagnosing and managing this patient.
Traumatic lumbosacral dislocation treated with posterior lumbar interbody fusion using intersomatic cages
Authors: Katsuhiro Tofuku, Hiroaki Koga, Kazunori Yone, Setsuro Komiya
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

A 35-year-old man was struck by a car on his right side and presented with paraparesis of both lower extremities. Radiographic examination revealed multiple transverse process fractures and anterior displacement of L5 on S1. Computed tomography revealed a bilateral anterior facet dislocation of the fifth lumbar vertebra on the sacrum. MRI showed rupture of the posterior ligamentous complex. A posterior lumbar interbody fusion using two intersomatic cages and pedicle screw instrumentation and posterior fusion were performed. Although no major disc lesion was found at the level of L5-S1 on preoperative MRI, a severely collapsed L5-S1 disc was found intraoperatively. Two years after surgery, the patient was asymptomatic with normal neurological findings, and has resumed normal activity. We believe that lumbosacral dislocation can be considered a three-column injury with an L5-S1 disc lesion, and, therefore, requires a solid circumferential segmental arthrodesis to improve fusion rate.
Congenital Bladder Diverticulum in Adults: A Case Report and Review of the Literature
Authors: Rawad Abou Zahr, Khalil Chalhoub, Farah Ollaik, Joe Nohra
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

A 37-year-old male patient presented to the emergency department with fever, gross hematuria, and irritative lower urinary tract symptoms. Investigations revealed the presence of a large left bladder diverticulum superior and lateral to the left ureteral orifice without bladder outlet obstruction. Bladder diverticula in adults almost always present in the setting of bladder outlet obstruction. The finding of a congenital bladder diverticulum in an adult represents a rare clinical entity.
How 40 kilograms of fluid retention can be overlooked: two case reports
Authors: Hon Shing Ong, Candy Wing-Chiu Sze, Tat Woon Koh, Simon Ward Coppack
Journal: Cases J (2009)

Introduction:
With a rising incidence of severe obesity in developed nations, heart failure, a well-recognised co-morbidity, is becoming more common.
Case presentation:
We describe two recent patients encountered, a 64 year old and a 42 year old, who are both severely obese and presented with fluid retention of approximately 40 kilograms. Assessment revealed that the explanation of the gross clinical features were relatively subtle cardiac abnormalities. These cases illustrate how fluid retention in severe obesity can differ from that seen in 'traditional' heart failure in terms of clinical assessment and management.
Conclusion:
Severe obesity can result in insidious fluid retention, which can be easily overlooked until large volumes of fluid have accumulated. Cardiac abnormalities are usually found in these patients, but may be relatively subtle, leading to current debate in the definition and classification of heart failure. These scenarios are increasingly being encountered in clinical practice. Recognition, assessment and treatment of the 'clinical syndrome of heart failure' in severe obesity is often difficult.
Rare presentation of autosomal dominant polycystic kidney disease in horseshoe kidney ultrasound evaluation: a case report
Authors: Vadlamudi Nagendra, Suresh Vasant Phatak, Rohan Kumar Singh, Shivesh Subodh Pandey, Rishabh Gupta
Journal: Pan Afr Med J (2022)
Keywords: polycystic kidney disease, case report, horseshoe kidney disease, polycystic liver disease, ultrasound
MeSH terms: Fused Kidney, Polycystic Kidney Diseases, Polycystic Kidney, Autosomal Dominant, Case Reports, Adult, Humans, Incidence, Kidney, Ultrasonography

Horseshoe kidney is a renal fusion anomaly during embryogenesis and adult polycystic kidney disease is a hereditary disorder which is transmitted in autosomal dominant pattern. Polycystic and horseshoe kidney are two separate disease entities, only about 20 cases of polycystic kidney disease in horseshoe kidney disease have been described in the literature, with an incidence ranging from 1 in 134 000 to 1 in 8 000 000 live births. We are presenting ultrasound findings of a patient who was incidentally diagnosed with polycystic horseshoe kidney on routine screening.
A Rare Presentation of Late-Onset Mania Following Right-Sided Lacunar Infarct
Authors: Apoorva Yadav, Vaishali Sehgal, Pradeep Patil, Apurva Bezalwar
Journal: Cureus (2023)
Keywords: lacunar infarct, late onset mania, manic switch, organic mania, stroke
MeSH terms: Case Reports

Stroke can result in various psychiatric disorders. It is uncommon for people to experience their first episode of mania later in life, amounting to only 1% as compared to post-stroke depression, where the incidence is comparatively high. Significant attention has been paid to the study of post-stroke depression. However, reports of manic episodes following a stroke are uncommon. Just five reported cases of mania or bipolar disorder following a cerebral infarction due to damage to the left hemisphere had been published as of late 1996. There is insufficient evidence to conclude whether late-onset mania has an organic or non-organic basis. There hasn't been a lot of research done in this area. In this report, we present a case of an elderly woman who presented with mania after being treated with an anti-depressant following a chronic cerebral infarction.
An unusual cause of post-operative orbital edema in a child after general anesthesia
Authors: Joseph D Tobias, Narasimhan Jagannathan, Amod Sawardekar, Tarun Bhalla
Journal: Saudi J Anaesth (2011)
Keywords: allergic reaction, allergy, anaphylaxis, ocular injury, periorbital edema
MeSH terms: Case Reports

We present an unusual ocular complication during the perioperative period, bilateral orbital edema in an otherwise healthy child after an outpatient surgical procedure. Ocular complications under general anesthesia remain a rare event. When periorbital edema is present, the appropriate work-up includes ruling out the potential for an allergic event by reviewing the medications administered and serum tryptase testing. Ophthalmology consultation should be considered to exclude pathology native to the eye itself. An allergist may assist in confirming a diagnosis and for allergic testing, if indicated. In our patient, the eventual diagnosis of exclusion was that of a localized reaction to the cellophane-based eye tape.
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
Authors: Inusha Panigrahi, Manoj Dhanorkar, Renu Suthar, Chanchal Kumar, Mullai Baalaaji, Babu Ram Thapa, Jasvinder Kalra
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Here we report 4 cases of NPD type A/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension and mitral valve prolapse. The diagnosis of NPD was proven by mutation analysis with identification of novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene. We also had two cases of NPD type C, confirmed on mutation analysis.
Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient
Authors: Burak Ozbas, Mikail Demir, Huseyin Dursun, Izem Sahin, Aysa Hacioglu, Zuleyha Karaca, Munis Dundar, Kursad Unluhizarci
Journal: Endocr Metab Immune Disord Drug Targets (2023)
Keywords: 11-beta hydroxylase deficiency, 11-deoxycortysol, cyp11b1 gene, congenital adrenal hyperplasia, mineralocorticoid pressure levels
MeSH terms: Adrenal Hyperplasia, Congenital / diagnosis, Adrenal Hyperplasia, Congenital / genetics, Case Reports, Adult, Female, Humans, Hydrocortisone / therapeutic use, Mutation, Steroid 11-beta-Hydroxylase / genetics, Steroid 11-beta-Hydroxylase, Hydrocortisone, Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

Background:
11β hydroxylase deficiency (11βOHD) ranks as the second most common enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid precursor levels. Many different types of mutations in the CYP11B1 gene located on chromosome 8q24.3 have been shown to cause 11βOHD. Here, we report a novel missense mutation that leads to 11βOHD in a female patient.
Case presentation:
A 35-year-old female patient was admitted to the Endocrinology Department with a complaint of abdominal pain. The patient had a history of genital reconstruction surgery twice in childhood. On physical examination, an abdominal mass was detected. Laboratory examination of the patient revealed low levels of cortisol, potassium and high levels of ACTH, 11-deoxycortisol and androstenedione, suggesting 11βOHD. Genotyping showed a novel homozygous missense mutation (c.1385T>C L462P variant) detected on the 8th chromosome where the CYP11B1 gene is located. Glucocorticoid therapy was commenced for the patient whose diagnosis of 11βOHD was confirmed by both hormonal and genetic tests. A mass originating from the left adrenal gland with the largest diameter of 7 cm was compatible with myelolipoma.
Conclusion:
In this case report, we aimed to contribute to the literature by reporting a new missense mutation in the CYP11B1 gene, leading to classic type 11βOHD that has not been described before.
Outer retina changes on optical coherence tomography in vitamin A deficiency
Authors: Meghan K Berkenstock, Charles J Castoro, Andrew R Carey
Journal: Int J Retina Vitreous (2020)
Keywords: nyctalopia, optical coherence tomography, vitamin a deficiency
MeSH terms: Case Reports

Background:
Vitamin A deficiency is rare in the United States and can be missed in patients with malabsorption syndromes without a high dose of suspicion. Ocular complications of hypovitaminosis A include xerosis and nyctalopia, and to a lesser extent reduction in visual acuity and color vision. Outer retinal changes, as seen on spectral domain optic coherence tomography (SD-OCT), in patients with vitamin A deficiency have previously not been documented.
Case presentation:
We present two cases with symptoms of severe nyctalopia who were subsequently diagnosed with severe Vitamin A deficiency and their unique findings on SD-OCT of outer nuclear layer diffuse thinning with irregular appearance of the interdigitating zone and the ellipsoid zone as well as normalization after vitamin A supplementation.
Conclusions:
Outer nuclear layer thinning and disruption of the outer retinal bands on SD-OCT are reversible with correction of vitamin A deficiency. Improvement in visual acuity, color vision, and nyctalopia are possible with early diagnosis and appropriate treatment.
Bronchopleural Fistula Resolution with Endobronchial Valve Placement and Liberation from Mechanical Ventilation in Acute Respiratory Distress Syndrome: A Case Series
Authors: Haris Kalatoudis, Meena Nikhil, Fuad Zeid, Yousef Shweihat
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Patients who have acute respiratory distress syndrome (ARDS) with persistent air leaks have worse outcomes. Endobronchial valves (EBV) are frequently deployed after pulmonary resection in noncritically ill patients to reduce and eliminate bronchopleural fistulas (BPFs) with persistent air leak (PAL). Information regarding EBV placement in mechanically ventilated patients with ARDS and high volume persistent air leaks is rare and limited to case reports. We describe three cases where EBV placement facilitated endotracheal extubation in patients with severe respiratory failure on prolonged mechanical ventilation with BPFs. In each case, EBV placement led to immediate resolution of PAL. We believe endobronchial valve placement is a safe method treating persistent air leak with severe respiratory failure and may reduce days on mechanical ventilation.
Multi-protocol exploratory treatment for metastatic castration-resistant prostate cancer with BRCA mutations: a case report and literature review
Authors: Dongsheng Zhao, Wen Su, Liang Zeng, Guoqian Hu, Jin Tang
Journal: Front Oncol (2023)
Keywords: avpc, brca1 gene mutation, pd-1, mcrpc, prostate cancer
MeSH terms: Case Reports

Most patients with metastatic hormone sensitive prostate cancer will progress to metastatic castration-resistant prostate cancer (mCRPC); Finding a highly effective, safe treatment with low recurrence rate has important clinical implications. Herein, we present a case of a 65-year-old man with castration-resistant prostate cancer treated by multi-protocol exploration. Magnetic resonance imaging (MRI) revealed prostate cancer invading the bladder, seminal vesicle glands, and peritoneum with pelvic lymph node metastasis. Transrectal B ultrasound puncture of prostate tissue was performed, and the pathological diagnosis was prostatic adenocarcinoma. CTC (Circulating tumor cell) gene test was performed in peripheral blood, and the result showed BRCA1 gene mutation. The patient died of tumor complications after trying docetaxel combined with cisplatin chemotherapy, PARP inhibitor (nilaparib), PD-1 inhibitor (tislelizumab) and other treatments. This patient showed that the selection of an individualized combination chemotherapy regimen based on genetic testing results benefited the patient's tumor control. When choosing a treatment regimen, problems such as failure to respond to re-chemotherapy and resistance to nilaparib may lead to deterioration of the condition.
Unruptured Multiple Sinus of Valsalva Aneurysms
Authors: Demian J Omeh, Amgad N Makaryus
Journal: Case Rep Radiol (2020)
MeSH terms: Case Reports

Sinus of Valsalva aneurysm (SVA) is a rare cardiac condition occurring in about 0.09% of the general population, with potential for grave complications. Unruptured sinus of Valsalva aneurysms of all three sinuses in the same patient are even more rare. There are congenital, inherited, or acquired causes. Noninvasive cross-sectional imaging modalities, consisting of color Doppler echocardiography, cardiac computed tomographic angiography (CCTA), and cardiac magnetic resonance imaging (MRI), make the diagnosis. Treatment is mainly by open surgical reconstruction. However, transcatheter techniques are gaining popularity with noninferior outcomes in selected cases. We report the diagnosis and successful management of a patient with an unusual presentation of multiple unruptured SVAs of all three sinuses, and we conducted a review of the English medical literature.
Treatment of Long-standing Condylar Dislocation with Vertical Ramus Osteotomy: A Case Report
Authors: Saeed Nezafati, Leila Ashkhasi, Mohammadali Ghavimi
Journal: J Dent Res Dent Clin Dent Prospects (2015)
Keywords: dislocation, mandibular condyle, osteotomy
MeSH terms: Case Reports

Condylar dislocation is not an uncommon condition and occurs when the condyles are displaced anterior to the articular eminence and are unable to reduce back into the glenoid fossa. Long-standing dislocations are difficult to treat with the conservative methods and usually need surgical intervention. In this paper, a long-standing dislocation treated by bilateral extra-oral ramus osteotomy is described and the literature is reviewed.
Castelman's disease of the neck: a case report and literature review
Authors: Amel El Korbi, Sondes Jellali, Mahbouba Jguiri, Ahlem Bellalah, Mehdi Ferjaoui, Rachida Bouatay, Naourez Kolsi, Khaled Harrathi, Jamel Koubaa
Journal: Pan Afr Med J (2020)
Keywords: castleman’s disease, lymphadenopathy, surgery
MeSH terms: Castleman Disease / diagnosis, Lymphadenopathy / diagnosis, Neck / pathology, Case Reports, Review, Castleman Disease / physiopathology, Female, Humans, Young Adult

Castleman's disease is a rare pathology, poorly understood. It is considered as a lymphoproliferative disorder, described for the first time in 1954, which may be confused with other causes of lymphadenopathy. We report in this paper the case of a young women presenting with left latero-cervical lymphadenopathy. All the investigations were negative except a large high-vascularized level II cervical lymphadenopathy. We performed a cervicotomy. The extemporaneous histological exam was non-contributive. We decided to perform a complete level II and III left cervical lymphadenectomy. The diagnosis of unicentric Castleman's disease was confirmed based on the final histological study of the specimen, and the absence of other cervical and extra-cervical lymphadenopathy. The patient is free of recurrence at the time of reporting this article.
Pressure Ulcer Associated with Testicular Prosthesis as a Rare Cause of Spinal Epidural Abscess
Authors: Amulya Prakash, Rishi Raj, Aasems Jacob, Douglas Ross
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Spinal epidural abscess is a neurologic emergency with a potential complication to the spinal cord such as paralysis. Frequently, it has a nonspecific initial presentation such as neck or back pain, and hence there is a delay in diagnosis. We present the case of a 60-year-old Caucasian male who presented to emergency room with one week of numbness and weakness of all four extremities. Neurological examination showed variable quadriparesis. Urgent MRI of spine with contrast revealed epidural abscess in the cervical region C4-C6 with resultant cord compression, the underlying etiology for hematogenous spread of infection being pressure ulcer associated with testicular prosthesis. Urgent neurosurgical intervention was done to achieve spinal cord decompression. Both blood and pus cultures were positive for Streptococcus intermedius, requiring prolonged administration of intravenous antibiotics. Clinical outcome was encouraging with progressive gain in motor and sensory function. Spinal epidural abscess is a rare diagnosis; hence, clinicians should have a high index of suspicion for timely diagnosis.
Anti-Dopamine Receptor 2 Antibody-Positive Encephalitis in Adolescent
Authors: Xuejiao Dai, Lilu Kuang, Li Feng, Xiaoping Yi, Weiting Tang, Qiao Liao, Xiaoyan Long, Junling Wang, Jing Li, Huan Yang, Bo Xiao, Guoliang Li, Si Chen
Journal: Front Neurol (2020)
Keywords: d2r, adolescent, basal ganglia encephalitis, movement disorder, psychiatric
MeSH terms: Case Reports

Autoimmune encephalitic syndromes include mutism, somnolence, movement disorder, and behavioral, or psychiatric symptoms. When paired with bilateral basal ganglia lesions on magnetic resonance imaging, these support the diagnosis of basal ganglia encephalitis (BGE). BGE is a rare but distinct entity of putative autoimmune etiology, with specific basal ganglia inflammation and acute movement disorders. A previous study identified dopamine-2 receptors (D2R) antibody to be positive in most BGE children, indicating that the D2R antibody may trigger the downstream pathological process in BGE patients. The highest levels of D2R are found in the striatum, the nucleus accumbens, and the olfactory tubercle. D2R antibody-positive BGE is widely reported in children. Here we present a 17-year-old girl with a typical clinical feature of basal ganglia encephalitis, who benefited from immune therapy.
Staphylococcus pettenkoferi Bacteremia in an American Intensive Care Unit
Authors: Cameron Strong, Michael Cosiano, Melanie Cabezas, J W Barwatt, L Gayani Tillekeratne
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Coagulase-negative staphylococci (CoNS) are considered the most common cause of nosocomial bloodstream infections; yet, these species are frequently designated as contaminants in the absence of systemic signs and symptoms of infection. Immunocompromised patients or those with prosthetic devices are at increased risk for clinically significant bacteremia. With the advent of matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) in clinical practice, there has been improved specificity of CoNS isolate identification and further elucidation of underrecognized pathogenic species. Staphylococcus pettenkoferi was a novel CoNS species first identified in 2002 and thought to be misdiagnosed as other CoNS due to limitations in biochemical identification. There is increasing identification of S. pettenkoferi isolates; however, there are limited case reports of clinically significant S. pettenkoferi bacteremia and no reported cases within the United States. We present the first known case of S. pettenkoferi from an American intensive care unit.