OpenMed/multicare-articles huggingface dataset:
Initial seronegative immune-mediated necrotising myopathy with subsequent anti-HMGCR antibody development and response to rituximab: case report
Authors: Rhys Thomas, Su-Ann Yeoh, Rupert Berkeley, Andrew Woods, Mike Stevens, Silvia Marino, Aleksandar Radunovic
Journal: BMC Rheumatol (2020)
Keywords: anti-hmgcr, case report, immune-mediated necrotizing myopathy, myalgia
MeSH terms: Case Reports

Background:
Immune-mediated necrotising myopathy (IMNM) is characterised by severe muscle weakness and necrosis with a paucity of inflammation on muscle biopsy. Around 60% of cases are associated with antibodies to the signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR); the remainder are seronegative. IMNM is more treatment resistant than inflammatory myopathies.
Case presentation:
A 69-year-old woman with previous statin exposure presented aged 63 with muscle weakness and raised creatinine kinase (CK). Anti-SRP and anti-HMGCR antibodies were not detected, but muscle biopsy revealed changes consistent with necrotising myopathy. Statins were discontinued, and she was treated with prednisolone and methotrexate achieving disease remission. Clinical and biochemical parameters were largely stable until 6 years after diagnosis she experienced a rapid deterioration. This was found to be associated with new development of anti-HMGCR antibody. Rituximab was commenced, resulting rapidly in remission. She has remained in remission since, following 2 cycles of rituximab.
Conclusions:
To our knowledge, this is the first reported case of serologically negative IMNM whose subsequent rapid deterioration was associated with development of anti-HMGCR antibody. The response to rituximab and subsequent sustained remission suggests a role for early use of rituximab in aggressive cases of anti-HMGCR myopathy.
Multidisciplinary Treatment Approach for Perforated Internal Root Resorption: Three-Year Follow-Up
Authors: Sinem Yıldırım, Mesut Elbay
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Internal root resorption (IRR) is described as a resorptive defect of the internal aspect of the root caused by odontoclastic activity associated chiefly with chronic pulp inflammation and trauma. An important variation to consider is the presence of a root perforation, although it is rare. This paper defines the use of CBCT in the diagnosis and combined nonsurgical and surgical multidisciplinary management and follow-up of a maxillary central incisor with perforating IRR in a 9-year-old female patient. At 3-year follow-up, clinical and radiographic findings of the case were satisfactory.
Glottic-Subglottic adenoid cystic carcinoma. A case report and review of the literature
Authors: Domenico Testa, Germano Guerra, Giovanni Conzo, Michele Nunziata, Gioacchino D'Errico, Maria Siano, Gennaro Ilardi, Mario Vitale, Francesco Riccitiello, Gaetano Motta
Journal: BMC Surg (2013)
MeSH terms: Carcinoma, Adenoid Cystic / diagnosis, Carcinoma, Adenoid Cystic / surgery, Glottis, Laryngeal Neoplasms / diagnosis, Laryngeal Neoplasms / surgery, Case Reports, Review, Female, Humans, Middle Aged

Background:
Malignant tumours of minor salivary glands are uncommon, representing only 2-4% of all head and neck cancers. In the larynx, minor salivary gland tumours rarely occur and constitute less than 1% of laryngeal neoplasm. Most of the minor salivary gland tumours arise in the subglottis; however, they can also occur in the supraglottis, in the false vocal cords, aryepiglottic folds and caudal portion of the epiglottis. The most common type of malignant minor salivary gland tumour is adenoid cystic carcinoma.
Methods:
We present a unusual case of adenoid cystic carcinoma of glottic-subglottic region in a 61-year-old woman. Follow-up endoscopy and laryngeal magnetic resonance imaging (MRI) at three years after treatment showed no recurrence of the tumour.
Results:
The diagnosis of glottic-subglottic adenoid cystic carcinoma should be considered in patients who are characterized by dyspnea, cough and stridor, but do not respond to pharmacologic approach.
Conclusions:
Adenoid cystic carcinoma is usually a very slow growing cancer, invested by an apparently normal laryngeal mucosa, so that it can show no clear symptoms for a long time. For these reasons the increasing number of diagnostic mistakes or late diagnosis that may be fatal in some cases.
Pulmonary Alveolar Microlithiasis: A Unique Case of Familial PAM Complicated by Transplant Rejection
Authors: Austin Helmink, Samir Atiya, Ernesto Martinez Duarte
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

Background:
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by the deposition of calcium phosphate microliths or calcospherites, within the alveolar airspace. Typical imaging findings demonstrate a "sandstorm" appearance due to bilateral, interstitial sand-like micronodularities with basal predominance.
Methods and results:
We describe an unusual case of a 48-year-old male with severe, familial PAM ultimately treated with a bilateral lung transplant.
Conclusions:
PAM is a rare lung disease caused by a mutation in the SLC34A2 gene, which encodes for a sodium-phosphate cotransporter in type II alveolar cells, leading to accumulation of intra-alveolar phosphate causing microlith formation. PAM has an indolent course but can progress to chronic hypoxic respiratory failure, ultimately requiring lung transplant, the only known effective treatment.
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
Authors: Laura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, Denise Foster, Chandree L Beaulieu, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Kym M Boycott, K Boycott, J Friedman, J Michaud, F Bernier, M Brudno, B Fernandez, B Knoppers, M Samuels, S Scherer
Journal: BMC Neurol (2014)
MeSH terms: Epilepsy / diagnosis, Epilepsy / genetics, Exome / genetics, Microcephaly / diagnosis, Microcephaly / genetics, Sequence Analysis, DNA / methods, Case Reports, Research Support, Non-U.S. Gov't, Female, Genetic Testing / methods, Humans, Male, Middle Aged, Pedigree, Syndrome

Background:
Despite remarkable advances in genetic testing, many adults with syndromic epilepsy remain without a molecular diagnosis. The challenge in providing genetic testing for this patient population lies in the extensive genetic heterogeneity associated with epilepsy. Even for the subset of epilepsy patients that present with a defining feature, such as microcephaly, the number of possible genes that would require interrogation by Sanger sequencing is extensive and often prohibitively expensive.
Case presentation:
We report a family of French Canadian descent with four adult children affected with severe intellectual disability, epilepsy and microcephaly born to consanguineous parents and evaluated by the Genetics Service to provide informed genetic counseling to unaffected family members regarding possible recurrence risks. We used whole-exome sequencing (WES) of DNA from one affected sibling as a first-line diagnostic tool and compared the prioritization of variants using two strategies: 1) focusing on genes with homozygous variants; and, 2) focusing on genes associated with microcephaly. Both approaches prioritized the same homozygous novel frameshift mutation (p.Arg608Serfs*26) in WDR62, a gene known to cause autosomal recessive primary microcephaly. Sanger sequencing confirmed the presence of the homozygous mutation in the other three affected siblings.
Conclusions:
WES and subsequent filtering of the rare variants in a single affected family member led to the rapid and cost-effective identification of a novel homozygous frameshift mutation in WDR62, thereby explaining the severe neurodevelopmental disorder in this family and facilitating genetic counseling. Our findings support WES as an effective first-line diagnostic tool in families presenting with rare genetically heterogeneous neurological disorders.
Special Needs Dental Management of the Class 3 Obese Patient
Authors: Zanab Malik
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Obesity, classified as a chronic disease by the World Health Organisation (WHO), is a worldwide public health problem. Obesity has links with numerous systemic diseases which may complicate dental management and as such, patients with obesity and concomitant medical comorbidities are commonly managed by Special Needs Dentistry specialist departments in Australia. The sparsity of available evidence on the dental status in this group is likely due to significant access issues experienced by the class 3 obese, who often weigh >140 kg and therefore are unable to be examined or treated in conventional dental chairs. "Bariatric" is a term used to refer to a specific branch of medicine dealing with causes, prevention, and treatment of obesity. It is used widely in the literature to refer to obese patients; however, dentistry for this cohort ("bariatric dentistry") is less well defined and represents less frequently used terminology. This case report is of a 58-year-old female, with class 3 obesity, who presented in May 2018 for outpatient consult to the Special Needs Unit/Medically Complex Dental Clinic at Westmead Centre for Oral Health, Sydney, Australia, with a compromised and neglected dentition and requiring full dental clearance. The case highlights many of the significant access issues and considerations for safe and effective delivery of dental management. As we move into the future, dental professionals need to become more aware of the growing challenge obesity presents and understand how medical complexities influence dental management. Facilities need to be able to meet this growing need and the specific requirements for a functional and safe bariatric dental service; dependent on both appropriate infrastructure and training.
Obsessive compulsive disorder as a presenting symptom of COVID-19: A case-series from Iran
Authors: Mahsa Owji, Abdorreza Naser Moghadasi, Faezeh Gholamian, Seyed Yaser Mousavi
Journal: Caspian J Intern Med (2022)
Keywords: covid-19, neuropsychiatric presentation, obsessive compulsive disorder
MeSH terms: Case Reports

Background:
Coronavirus disease 2019 (COVID-19) involves different organs and clinical presentations varying from respiratory symptoms to gastrointestinal symptoms and neurological symptoms. Another group of symptoms are psychiatric symptoms and according to a study, 53.8% of participants reported various degrees of these symptoms.
Case presentation:
In this study, we presented six cases with sudden onset OCD or exacerbation of the previously controlled OCD concomitant with COVID-19 symptoms.
Result:
Obsessive compulsive symptoms can be the presenting manifestation of COVID-19.
Conclusion:
The neuropsychiatric manifestations may be resulted from central nervous system (CNS) infiltration, and dysregulation of inflammatory factors autoimmune responses.
Endogenous Endophthalmitis Associated with Liver Abscess Successfully Treated with Vitrectomy and Intravitreal Empirical Antibiotics Injections
Authors: Sung Woong Lim, Youngje Sung, Hee Jung Kwon, Won Kyung Song
Journal: Case Rep Ophthalmol Med (2020)
MeSH terms: Case Reports

Purpose:
Klebsiella pneumoniae is the most common pathogen of endogenous endophthalmitis accompanying liver abscess in East Asia. The treatment may be different for the patients with endogenous endophthalmitis from the postoperative endophthalmitis. Prompt administration of both intraocular (vancomycin and ceftazidime) and systemic (ceftriaxone, aminoglycoside, and/or metronidazole) antibiotics have been a mainstay of treatment. However, ceftriaxone has been proven to more effectively kill K. pneumoniae than ceftazidime in in vitro studies, and the safety of intravitreal ceftriaxone has been confirmed in animal studies.
Methods:
Two diabetic female patients with liver abscess presented with decreased visual acuity of the unilateral eyes. Fundus photography, ocular ultrasonography, and abdominal computed tomography were performed.
Results:
A 50-year-old diabetic female patient with liver abscess presented decreased visual acuity of the left eye. In fundus examinations, a yellowish necrotic lesion was noted throughout the eye. The results of culture of the blood culture was positive for K. pneumoniae. She was successfully treated with intravitreal ceftazidime injections, and the remaining vitreous opacity was treated with vitrectomy. A 62-year-old female with liver abscess presented a visual symptom of floaters in the right eye. The fundus had a hazy appearance through the vitreous opacity. A yellowish-white subretinal abscess was noted at the temporal macula. Cultures of blood were negative. She underwent intravitreal injections of empirical antibiotics. However, she did not respond to intravitreal vancomycin and ceftazidime. Thus, we changed the intravitreal antibiotics from ceftazidime to ceftriaxone and performed vitrectomy. Her ocular status significantly improved after this change.
Conclusion:
Our results indicate that for cases with EE, prompt initial treatment with broad spectrum antibiotics, followed by rapid use of antibiotics selected according to culture results, and empirical use of antibiotics in cases of a negative culture may be an effective treatment. Vitrectomy also can be an effective treatment option for vitreous opacity refractory to the treatment.
Primary Mucinous Adenocarcinoma of Appendix Invading Urinary Bladder with a Fistula: A Case Report
Authors: Jiwei Yang, Jianning Wang, Tongyi Men, Xiaoming Zhang, Xianduo Li, Bin Shen, Ping Zhou
Journal: Open Life Sci (2019)
Keywords: adenocarcinoma, appendiceal carcinoma, bladder, fistula

An adenocarcinoma of the appendix invading the urinary bladder, which is difficult to be diagnosed before the operation, is an extremely rare disease. Only a few cases have been reported. Here we reported a case of patient diagnosed with the mucinous adenocarcinoma of the appendix invading the urinary bladder. The case reported in this study was a 54-years old man who was admitted due to a 6-month history of intermittent episodes of irritative voiding symptoms of the bladder, and weight loss. The patient did not have any gastrointestinal symptoms. The physical examination, laboratory examination, cytology of the urine, computed tomography and cystoscopy were inconclusive. The partial cystectomy, subsequent exploratory laparotomy and intraoperative frozen analysis revealed the appendiceal mucinous adenocarcinoma with a fistula to the urinary bladder. The appendectomy and the right hemicolectomy with a ileocolic anastomosis, the lymphadenectomy and the partial cystectomy limited to the anterior wall was performed. Six months after operation, the patient was in a good health with no obvious discomfort, no recurrence or distant metastases. The recommended treatment for the adenocarcinoma of the appendix invading the bladder with a fistula formation is as follows: appendectomy, right hemicolectomy with ileocolic anastomosis, lymphadenectomy, partial cystectomy and intraperitoneal hyperthermic chemoperfusion.
Enormous gastrointestinal stromal tumor arising from the stomach causing weight loss and anemia in an elderly female: Case report
Authors: Ayad Ahmad Mohammed, Sardar Hassan Arif
Journal: Int J Surg Case Rep (2019)
Keywords: cd117, gist, gastrointestinal stromal tumors, imatinib, interstitial cell of cajal, c-kit protein

Introduction:
Gastrointestinal stromal tumors are the most common mesenchymal tumors of gastrointestinal tract originating from the interstitial cell of Cajal. The presentation is variable depending on the size and site. CT scan is the most widely used imaging. The primary treatment is surgical resection. Imatinib may be used in unresectable tumors or preoperatively.
Case presentation:
A 65-year-old lady had weight loss and repeated vomiting for one year. Examination showed a non-tender mass in the left hypochonrdium arising below the costal margin extending to 15 cm toward the left iliac fossa. It was firm with smooth surface. CT-scan examination showed a 45 cm × 21 cm mass arising between the spleen and the left kidney and displacing the kidney toward the midline. Gastroscopy and biopsy showed gastrointestinal stromal tumor. During surgery an enormous gastric tumor attached to the spleen. Total gastrectomy en-block with splenectomy and reconstruction done through roux-en-y esophago-jejunostomy and jejunojejunostomy.
Conclusion:
GISTs most commonly affect the stomach, most tumors are treated by primary surgical excision with normal safety margins, advanced disease may need imatinib before surgery which helps in decreasing the size of the tumor and makes surgery easier.
Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update
Authors: Deepak Gupta, Preeti Garg, Amit Mittal
Journal: Open Dent J (2017)
Keywords: classification update, computed tomography, craniofacial fibrous dysplasia, fibrous dysplasia, ground glass appearance, panoramic radiographs
MeSH terms: Review

Introduction:
Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla. It can also present as facial asymmetry and can be investigated with the help of Maxillofacial Radiology and Imaging. The radiographic findings may vary according to the extent and degree of the disease. Although conventional radiographs provide a good clue regarding the lesion, advanced maxillofacial imaging is capable of providing detailed extent of the disease. Furthermore the classification of CFD is not very clear in the literature.
Case report:
This particular paper attempts to document and report the CT appearance of CFD with an attempt to propose a better classification system for the same. Four different patients are reported which presented with FD with involvement of bones of craniofacial region. Working diagnosis of CFD was made with the help of clinical features as well as with radiographic assessment. Advanced imaging included CT scan of the lesions. The article highlights the importance of computed tomography in diagnosis as well as assessment of extent of the disease.
Conclusion:
It can be concluded that the Dental professionals must be aware regarding the different radiographic appearances of CFD. Advanced imaging modality like CT can provide with exact diagnosis as well as extent of the lesions like FD. Further collaboration of researchers is required to incorporate this proposed change in classification of CFD.
Incidence of retinopathy in chronic hepatitis C patients treated with pegylated interferon alpha 2a and ribavirin combination therapy
Authors: Muhammad Kashif, Muhammad Khurram Saleem, Imran Khan Farooka, Amina Husnain, Arif Mahmood Siddiqui
Journal: Pak J Med Sci (2015)
Keywords: chronic hepatitis c patients, pegylated interferon alpha 2a and ribavirin combination therapy, retinopathy

Objectives:
The objective of this study was to determine the incidence of retinopathy in chronic hepatitis C patients treated with Pegylated interferon alpha 2a and Ribavirin.
Methods:
This descriptive case series study was conducted in Medical Unit II of the Jinnah Hospital Lahore from September 2012 to February 2013. One hundred chronic hepatitis C patients visiting Medical Unit II outpatient department fulfilling inclusion criteria were selected for this study via non probability purposive sampling. Patients were started on pegylated interferon and ribavirin combination therapy. Subjects were subjected to dilated eye fundoscopic examination at the start of therapy and then after three months of the therapy.
Results:
One hundred patients were included in this study. Out of these 100 patients 5% developed retinopathy whereas fundus examination was normal in rest of the patients.
Conclusion:
Interferon therapy can lead to retinopathy. Periodic fundoscopic examinations help in early detection and prevent progression to permanent visual loss.
Unexpected triggers for pheochromocytoma-induced recurrent heart failure
Authors: Tiago Pereira-da-Silva, João Abreu, Ruben Ramos, Ana Galrinho, Philip Fortuna, Nuno Jalles Tavares, Rui Cruz Ferreira
Journal: Int Arch Med (2014)
Keywords: body massage, cardiogenic shock, heart failure, pheochromocytoma, pregnancy
MeSH terms: Case Reports

Pheochromocytoma crisis typically presents as paroxysmal episodes of headache, tachycardia, diaphoresis or hypertension. We describe an uncommon case of recurrent non-hypertensive heart failure with systolic dysfunction in a young female due to pheochromocytoma compression. It presented as acute pulmonary oedema while straining during pregnancy and later on as cardiogenic shock after a recreational body massage. Such crisis occurring during pregnancy is rare. Moreover, of the few reported cases of pheochromocytoma-induced cardiogenic shock, recreational body massage has not yet been reported as a trigger for this condition.
Ophthalmic branch radiofrequency thermocoagulation for atypical trigeminal neuralgia:a case report
Authors: Shibin Du, Xiaoliang Ma, Xiaoqin Li, Hongjie Yuan
Journal: Springerplus (2015)
Keywords: ophthalmic branch, radiofrequency thermocoagulation, trigeminal neuralgia, upper eyelid

Background:
Trigeminal neuralgia is an intense neuralgia involving facial areas supplied by trigeminal nerve. The pain is characterized by sudden onset, short persistence, sharp or lancinating. Trigeminal neuralgia commonly affects frontal areas, infraorbital or paranasal areas, mandibular areas and teeth. While Trigeminal neuralgia affecting merely the upper eyelid is rare. Here we report a case of atypical Trigeminal neuralgia confined to the upper eyelid. The patient was pain free during the follow-up period of 6 months after unusual ophthalmic branch radiofrequency thermocoagulation.
Case presentation:
A 55-year-old female patient was diagnosed as primary trigeminal neuralgia involving the right upper eyelid. As the pain could not be controlled by drug therapy, peripheral nerve branch radiofrequency thermocoagulation was recommended. A combination of infratrochlear, supratrochlear and lacrimal radiofrequency thermocoagulation was implemented in this case. The point where the bridge of the nose abuts the supraorbital ridge and the point slightly above the lateral canthus along outer border of the orbit were selected respectively as the puncture sites. After positive diagnostic test, radiofrequency thermocoagulation of the above-mentioned nerve branches was performed respectively. The patient was pain free immediately after the treatment and during the follow-up period of 6 months.
Discussion:
Trigeminal neuralgia is a common severe and chronic facial neuralgia which requires accurate diagnosis and effective therapy. With typical clinical symptoms, normal neurological signs, normal CT and MRI findings, the patient was diagnosed as classic trigeminal neuralgia. As the patient was drug resistant, some invasive treatments were considered. Peripheral branch neurolysis was chosen for its minimal invasiveness, convenience, low risk and not affecting further invasive treatments. According to the anatomic data and the diagnostic test results, infratrochlear, supratrochlear and lacrimal nerve were responsible, therefore, an unusual combination of infratrochlear, supratrochlear, and lacrimal radiofrequency thermocoagulation was implemented for this patient.
Conclusions:
Radiofrequency thermocoagulation is an effective treatment option for trigeminal neuralgia. Peripheral branch radiofrequency thermocoagulation for trigeminal neuralgia should be considered preferentially due to its minimal invasiveness and convenience. Furthermore, as the sensory innervation of the upper eyelid is complex, the knowledge of peripheral distribution of trigeminal nerve is essential.