OpenMed/multicare-articles huggingface dataset:
Temporal Arteritis and Vision Loss in Microscopic Polyangiitis: A Case Report and Literature Review
Authors: Alexander G Goglia, Michael Makar, Craig Vanuitert, Vadim Finkelstein
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Microscopic polyangiitis (MPA) is an idiopathic autoimmune disease characterized by systemic vasculitis. While the lungs and kidneys are the major organs affected by MPA, it is known to involve multiple organ systems throughout the body. Temporal artery involvement is a very rare finding in MPA. This report presents a patient whose initial presentation was consistent with giant cell arteritis but was ultimately found to have microscopic polyangiitis. It highlights the importance of considering alternative types of vasculitis in the differential diagnosis for patients with atypical temporal artery biopsy findings.
Case Report: Surgical Treatment of Severe Facial Wounds and Proptosis in a Dog Due to a Traffic Accident
Authors: Jury Kim, Daesik Kim, Janghwan Kim, Daeyun Seo, Hyejin Hwang, Yuna Kim, Taekyu Chung, Seongsoo Lim, Hansol Lee, Min Su Kim
Journal: Front Vet Sci (2020)
Keywords: canine, face injury, proptosis, skin flap, trauma
MeSH terms: Case Reports

Although facial wounds caused by traffic accidents in dogs are common, the surgical management of severe facial injuries involving the soft tissue, bone, dentition, nose and orbit are challenging. A 2 year-old Korean Jindo dog was diagnosed with severe skin defects of the face and proptosis caused by a vehicular accident. Along the left lateral maxilla, severe injury involving the overlying skin and platysma muscle occurred, to the extent that the middle part of the sphincter colli profundus pars intermedia muscle was exposed. Repair surgeries of the skin defects and globe displacement were performed using a local subdermal plexus rotation flap and a partial transposition of the dorsal rectus muscle combined with small intestinal submucosa (SIS) instead of enucleation as the first attempt. SIS was used to sustain the torn medial region. In this case, the surgery resulted in good cosmetic and functional outcome in the dog, despite the atypical complexities upon presentation.
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review
Authors: Deqiong Ma, Robert Marion, Netra Prasad Punjabi, Elaine Pereira, Joy Samanich, Chhavi Agarwal, Jianli Li, Chih-Kang Huang, K H Ramesh, Linda A Cannizzaro, Rizwan Naeem
Journal: Mol Cytogenet (2014)
Keywords: hypothyroidism, interstitial deletion at 2q13q142, mullerian agenesis
MeSH terms: Case Reports

Reports of interstitial deletions involving proximal long arm of chromosome 2 are limited. Based on early chromosomal analysis studies, the phenotypic consequence of deletions at the ancestral chromosome fusion site at chromosome 2q13q14.1 remains unclear. A recurrent 1.71 Mb deletion at 2q13 has recently been proposed as a new genomic disorder, associated with an increased risk of intellectual disability and craniofacial dysmorphism. Herein, we report the case of a 12 year-old girl with unique clinical features including global developmental delay, mullerian agenesis, and hypothyroidism associated with a normal size and position of the thyroid gland, as well as negative thyroid antibodies. Microarray-based comparative genomic hybridization study revealed a de novo 10.79 Mb deletion at 2q13q14.2 (111,548,932-122,336,492), which involves more than 88 UCSC genes, 38 of which are OMIM genes, 7 of which are disease-causing and 3 of which (including GLI2, IL1B and PAX8) show a dominant inheritance pattern.. Interestingly, PAX8 (chr2:113,973,574-114,036,498), a member of the paired-box gene family, is essential for the formation of thyroxine-producing follicular cells. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8 suggests a possible haploinsufficiency effect. Additionally, PAX8 is also expressed in the tissue primordia that form both the mullerian duct derivatives and the upper urinary tracts. A recent study has associated a novel PAX8 mutation with a severe form of hypothyroidism and abnormalities in the urogenital tract. Taken together, the unique clinical manifestation seen in this patient could be attributed to the heterozygous deletion of PAX8 gene. A prospective investigation is merited to fully evaluate the pathogenic effect of the interstitial deletion of 2q13q14.2.
A case of probable non-familial early onset Alzheimer dementia in a Hispanic male
Authors: Corey Ephrussi, Richard Alweis
Journal: J Community Hosp Intern Med Perspect (2012)
Keywords: hispanic, presenilin-1, early onset alzheimer's dementia
MeSH terms: Case Reports

Background:
Early onset Alzheimer's type dementia (EOAD) is usually familial and associated with mutations in the Presenilin-1 (PSEN1), Presenilin-2 (PSEN2) or amyloid precursor protein (APP) genes. It is rarely reported in patients of Hispanic descent.
Case report:
A 49-year-old Hispanic male developed significant cognitive impairment over a 4-year period. PET scan showed diminished metabolic activity in the posterior parietal/temporal lobes. Genetic testing revealed the presence of a PSEN1 gene mutation.
Conclusion:
Disparities in health care may account for an under-recognition of EOAD in the Hispanic population. Clinicians should test for EOAD in all patients with appropriate symptomatology, regardless of ethnicity. Early recognition and enrollment in clinical trials is vital to enhancing our understanding of the natural history and treatment of this condition.
Pheochromocytoma presenting as acute heart failure leading to cardiogenic shock and multiorgan failure
Authors: Jochen Steppan, Julia Shields, Ralph Lebron
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Pheochromocytoma is an endocrine tumor classically presenting with headache, paroxysmal hypertension, and palpitations. We discuss the case of a young male, presenting with acute heart failure and cardiogenic shock requiring stabilization with an intra-aortic balloon pump and a combination of ionotropes and vasopressors. Pheochromocytoma was diagnosed by CT scan, as well as urine and plasma metanephrines. After pretreatment with phenoxy-benzamine, the patient underwent adrenalectomy with subsequent cardiovascular stabilization and full recovery. Unfortunately, pheochromocytoma often remains undiagnosed. Given the ample diagnostic tools and good prognosis when treated suitably, the diagnosis should be entertained early in patients, presenting with unexplained cardiovascular compromise.
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen
Authors: Xuejun Yang, Gaofu Zhang, Mo Wang, Haiping Yang, Qiu Li
Journal: Front Pediatr (2018)
Keywords: bartter syndrome, clcnkb, alkalosis, children, hypokalemia
MeSH terms: Case Reports

Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children. Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively. Results: Bartter syndrome is a kind of autosomal recessive inherited renal disorder. The manifestation and prognosis of Bartter syndrome change with mutation types, and severe mutation were often accompanied with unfavorable prognosis. Comprehensive therapy with ibuprofen, antisterone, captopril, and potassium have remarkable effect, while ibuprofen may improve growth retardation partly. Conclusion: Bartter syndrome should be considered when children have unreasonable continuous electrolyte disturbance, metabolic alkalosis and growth retardation.As a genetic disease, its clinical features depend on the mutation type. It can be ameliorated by electrolyte supplementation, prostaglandin synthetase inhibitors, angiotensin-converting enzyme inhibitors and potassium-sparing diuretic. Considering the following electrolyte disturbances, infections, growth retardation, kidney failure and even death, Bartter syndrome need lifelong treatment, early diagnosis and treatment is the most important.
Unnecessary Use of Corticosteroids for managing early mild symptoms of COVID-19 may lead to Rhino-ortibal-cerebral mucormycosis in Patients with Diabetes - a case series from Lahore, Pakistan
Authors: Somia Iqtadar, Masooma Hashmat, Muhammad Nabeel Akbar Chaudhry, Sami Ullah Mumtaz, Sajid Abaidullah, Domingo A Pascual-Figal, Amjad Khan
Journal: Ther Adv Infect Dis (2022)
Keywords: covid-19, corticosteroids, diabetes mellitus, invasive fungal infection, rhino-orbital-cerebral mucormycosis
MeSH terms: Case Reports

Rhino-orbital-cerebral mucormycosis (ROCM), a rare but fatal fungal infection, has recently emerged as a serious complication after corticosteroids therapy in COVID-19 patients, predominantly in diabetic and immunocompromised patients. The World Health Organization (WHO) COVID-19 current guidelines recommend corticosteroids administration in hospitalized COVID-19 patients requiring supplementary oxygen or mechanical ventilation. Herein, we report a case series of seven patients with COVID-19; three mild, three moderate, and one severe, from Lahore, Pakistan; all were using corticosteroids for managing their early mild symptoms of COVID-19 at home for around 2-3 weeks without a physician's advise, presented, and admitted with ROCM to Mayo hospital, Lahore, from March to June 2021. Out of the seven patients, five patients had uncontrolled diabetes mellitus (DM) as comorbidity. Eye pain, facial swelling and pain, nasal blockage, and black coloration around eyes, on palate, and oral mucosa were the presenting complaints at the time of admission. All the patients had radiographic imaging, including computed tomography (CT), paranasal sinuses (PNS), or brain magnetic resonance imaging (MRI) carried out at the hospital, which confirmed mucosal thickening and adjacent sinus bony erosions with intracranial extension. All the patients were treated with local debridement of the infected necrotic tissue along with intravenous liposomal Amphotericin B and Posaconazole or Amphotericin B depending on the case. Due to timely management, in six out of seven patients, prognosis was good due to early diagnosis and treatment, while one patient with severe COVID-19 illness deteriorated and died. The misuse of corticosteroids for managing early mild symptoms of COVID-19 in diabetic and other immunocompromised patients can lead to fatal ROCM, which can further increase their risk of developing severe COVID-19 and mortality. It is stressed that only physician's recommended therapeutic advice should be followed for managing early mild symptoms of COVID-19 in self-isolation and avoid the unnecessary use of corticosteroids. This case series also emphasizes that COVID-19 diabetic patients treated with corticosteroids need more vigilant monitoring and high suspicion of early diagnosis and treatment of invasive fungal infection. Early diagnosis and management can reduce morbidity and mortality.
Primary rhabdoid epithelioid sarcoma of the left thigh mimicking epithelioid rhabdomyosarcoma: A diagnostic pitfall
Authors: Rahadyan Magetsari, Ery Kus Dwianingsih, Yuni Artha Prabowo Putro, Irene Araneta, Yudha Mathan Sakti
Journal: Int J Surg Case Rep (2020)
Keywords: bone tumor, epithelioid sarcoma, examination
MeSH terms: Case Reports

Introduction:
Epithelioid sarcoma (ES) is a rare mesenchymal tumor, accounting for less than 1% of all adult soft-tissue sarcomas. The diagnosis of such malignancy is challenging. We reported a 31-year-old male diagnosed with rhabdoid ES that histologically mimicked epithelioid rhabdomyosarcoma in a 31-year-old male.
Case presentation:
A 39-year-old male presented with pain in the left thigh. He had planned for open reduction internal fixation due to left femur fracture. During the surgery, the surgeon found abnormal appearance of the bone and the surrounding tissue. The histopathology examination showed spindle-to-polygonal epithelioid cells arranged in nodular pattern with necrotic areas. Immunohistochemistry examination revealed vimentin and CK positive expression, while myogenin was negative. Further immunostaining using CD34 and HMB45 were also negative.
Discussion:
The diagnosis of ES based on only the clinical manifestation has proven to be difficult. Thus, the histopathology examination followed by immunohistochemistry is considered as the main modality for the diagnosis. Better understanding of clinical properties of ES will aid in deciding the best treatment for the patient.
Diagnosis and Management of Lemierre's Syndrome Presented with Multifocal Pneumonia and Cerebral Venous Sinus Thrombosis
Authors: Yasar Sattar, Ammu Thampi Susheela, Bibek Karki, Adnan Liaqat, Waqas Ullah, Fnu Zafrullah
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

A 27-year-old female patient initially presented with fever, myalgia, sore throat that progressed to multifocal pneumonia, and cerebral sinus venous thrombosis. A combination of upper respiratory symptoms with tooth infection, positive blood culture for Fusobacterium nucleatum, computed tomography (CT) chest finding of multifocal pneumonia, and magnetic resonance imaging (MRI) finding of internal jugular vein thrombosis (IJVT) and cerebral venous sinus thrombosis (CVST) suggested Lemierre syndrome. The patient was managed with fluids, antibiotics, and anticoagulants. The patient survived and discharged from the hospital. The patient's symptoms improved at 2 months of follow-up.
Transvenous ICD Implantation into a Coronary Sinus Branch: A Safe and Feasible Alternative to Deliver ICD after Tricuspid Valve Reconstruction
Authors: M Gruszczynski, A Müller-Burri, A Häussler, A Breitenstein, H Rodriguez Cetina Biefer, O Dzemali
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Significant lead-induced tricuspid regurgitation after cardiovascular implantable electronic devices is not uncommon. Absolute or relative contraindications to place the lead in the right ventricle after tricuspid valve (TV) surgery still remains a challenge. We report about successful lead extraction followed by transvenous implantable cardioverter defibrillator lead placement in the side branches of coronary sinus after TV reconstruction. Furthermore, we discuss therapeutic options to deliver concomitant anti-bradycardia therapy, technical pitfalls, and surgical approaches.
Post-appendectomy abdominal pain attributed to incidental ovarian cyst: a case report
Authors: Konstantinos Ouranos, Aristarchos Almperis, Anastasia Kourti, Christos Kaselas, Ioannis Spyridakis
Journal: Pan Afr Med J (2023)
Keywords: acute appendicitis, case report, hemorrhagic ovarian cyst, post-operative complications, progesterone
MeSH terms: Abdomen, Acute, Appendicitis / complications, Appendicitis / diagnosis, Appendicitis / surgery, Ovarian Cysts / diagnosis, Ovarian Cysts / surgery, Case Reports, Abdominal Pain / complications, Adolescent, Appendectomy / methods, Female, Humans

Acute abdominal pain in adolescents has a multitude of diagnoses to consider ranging from life-threating ones to other less obvious. In this case report, a 15-year-old girl presented with right lower quadrant abdominal pain and tenderness one month after successful surgical management of acute appendicitis. Post-appendectomy abdominal pain could easily be attributed to post-operative complications, while, in reality, a different disease state may be the cause of the pain. Physicians should have a high index of clinical suspicion, even though the temporal association of events may suggest otherwise. Hemorrhagic ovarian cyst (HOC) should be included in the differential, as it was confirmed with imaging in our case. A conservative treatment approach with progesterone was chosen, with menses resuming 2 days later, leading to regression of the cyst. The clinical significance of this case relies on the timely recognition of a disease entity, in order to distinguish it from complications arising postoperatively.
Electrophysiology and Structural Connectivity of the Posterior Hypothalamic Region: Much to Learn From a Rare Indication of Deep Brain Stimulation
Authors: Bina Kakusa, Sabir Saluja, David Y A Dadey, Daniel A N Barbosa, Sandra Gattas, Kai J Miller, Robert P Cowan, Zepure Kouyoumdjian, Nader Pouratian, Casey H Halpern
Journal: Front Hum Neurosci (2020)
Keywords: cluster headache, deep brain stimulation, diffusion tractography, local field potential, posterior hypothalamus

Cluster headache (CH) is among the most common and debilitating autonomic cephalalgias. We characterize clinical outcomes of deep brain stimulation (DBS) to the posterior hypothalamic region through a novel analysis of the electrophysiological topography and tractography-based structural connectivity. The left posterior hypothalamus was targeted ipsilateral to the refractory CH symptoms. Intraoperatively, field potentials were captured in 1 mm depth increments. Whole-brain probabilistic tractography was conducted to assess the structural connectivity of the estimated volume of activated tissue (VAT) associated with therapeutic response. Stimulation of the posterior hypothalamic region led to the resolution of CH symptoms, and this benefit has persisted for 1.5-years post-surgically. Active contacts were within the posterior hypothalamus and dorsoposterior border of the ventral anterior thalamus (VAp). Delta- (3 Hz) and alpha-band (8 Hz) powers increased and peaked with proximity to the posterior hypothalamus. In the posterior hypothalamus, the delta-band phase was coupled to beta-band amplitude, the latter of which has been shown to increase during CH attacks. Finally, we identified that the VAT encompassing these regions had a high proportion of streamlines of pain processing regions, including the insula, anterior cingulate gyrus, inferior parietal lobe, precentral gyrus, and the brainstem. Our unique case study of posterior hypothalamic region DBS supports durable efficacy and provides a platform using electrophysiological topography and structural connectivity, to improve mechanistic understanding of CH and this promising therapy.
Strangulated or incarcerated spontaneous lumbar hernia as exceptional cause of intestinal obstruction: case report and review of the literature
Authors: Marcus Fokou, Patrick Fotso, Marcelin Ngowe Ngowe, Arthur Essomba, Maurice Sosso
Journal: World J Emerg Surg (2014)
Keywords: incarceration, lumbar hernia, review, strangulation
MeSH terms: Review

Lumbar hernias are rare conditions and about 300 cases have been reported since the first description by Barbette in 1672. Therefore strangulation or incarceration are also exceptionally encountered. We present a 62 -year-old-man who had strangulated left lumbar hernia and consequent mechanical small-bowel obstruction, alongside with a non strangulated right lumbar hernia. Through a median laparotomy, an intestinal necrosis was found. A bowel resection with end to end anastomosis was performed and the lumbar hernias were repaired on both sides. The recovery was uneventfull. To the best of our knowlwdge thanks to the litterature review presented here, this is the 19th case of incarcerated or strangulated spontaneous lumbar hernia described in the surgical litterature since 1889.
Dextranomer/Hyaluronic Acid Calcification Masquerading as Distal Ureteral Calculi in a Patient Previously Treated for Vesicoureteral Reflux
Authors: Muammer Bozkurt, Samir Agalarov, Erkan Merder, Fatih Altunrende
Journal: J Endourol Case Rep (2018)
Keywords: subureteral injection, ureteral calculi, vesicoureteral reflux
MeSH terms: Case Reports

Subureteral endoscopic injection is a safe and effective treatment for vesicoureteral reflux (VUR). Dextranomer/hyaluronic acid (Dx/HA) is the most commonly used bulking agent for the treatment of VUR. We report a confusing radiographic finding of calcified Dx/HA injection initially simulates distal ureteral stone in a female patient who has intermittent lumbar pain. Calcification of Dx/HA implants may mimic distal ureteral calculi; therefore, urologists should be aware of the potentially confusing radiographic images.
Unusual case of gastro jejuno-colic fistula with perforation: a rare case report
Authors: Sundeep Ashokkumar Naik, Srinivas Pai
Journal: Pan Afr Med J (2014)
Keywords: gastrojejunocolic fistula, acid peptic disease, gastrectomy, gastric resection
MeSH terms: Colonic Diseases / pathology, Gastric Fistula / pathology, Intestinal Fistula / pathology, Jejunal Diseases / pathology, Case Reports, Colonic Diseases / etiology, Gastric Fistula / etiology, Gastroenterostomy / adverse effects, Gastroenterostomy / methods, Humans, Intestinal Fistula / etiology, Jejunal Diseases / etiology, Male, Middle Aged, Peptic Ulcer / surgery

Gastrojejunocolic fistula (GJF) is a late and very rare complication of gastroenterostomy performed for recurrent peptic ulcer disease. The occurrence of perforation in a GJF is even more a rare complication because long evolution time or latent period is required for its appearance. Patients with this condition usually present with diarrhea, weight loss, feculent vomiting, under-nutrition and features of peritonitis that require immediate surgical intervention. Herewith we report a case of 60 year old male with perforation in a gastrojejunocolic fistula and its management.
Bilateral Laparoscopic Partial Nephrectomies: A Case Report
Authors: Sravan Panuganti, Simpa Samuel Salami, Louis Raphael Kavoussi
Journal: J Endourol Case Rep (2015)
MeSH terms: Case Reports

Although laparoscopy is a recognized operative approach to the management of renal masses, there is currently no standardized approach to manage bilateral synchronous renal masses. We present a case of synchronous bilateral renal masses, identified during work-up for flank pain, and managed simultaneously with laparoscopic partial nephrectomies. The patient is a 42-year-old Caucasian male found to have bilateral renal masses during evaluation for left flank pain. Cross-sectional imaging studies showed a 7.0 × 7.3 × 5.2 cm anterior, mid-to-lower pole mass on the left kidney and a 1.5 × 1.9 × 1.6 cm medial lower pole mass on the right kidney. He underwent bilateral laparoscopic partial nephrectomy at the same setting, with an uncomplicated postoperative course. Pathology report revealed clear cell renal-cell carcinoma (ccRCC) on both sides. He had normal renal function and no evidence of recurrence in the first 6 months of follow-up. This case demonstrates the possibility and safety of performing bilateral laparoscopic partial nephrectomies in one operative session. Our review of the literature supports the role of genetic counseling and the need for long-term surveillance in young patients having RCC.