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About 193,283 results

Peripheral neuropathy as a very rare symptom in a patient with Niemann-Pick type C with...
https://doi.org/10.1186/s13256-021-03136-2 10.1016/B978-0-444-59565-2.00041-1 10.1016/j.braindev.2017.05.006 10.1007/s40265-013-0164-6 10.1111/j.1471-4159.2010.06976.x 10.1016/j.jns.2014.12.005 10.1371/journal.pone.0082879 10.1097/00005176-200207000-00011 10.3109/15513815.2015.1130762 10.1002/ajmg.a.32642 10.1016/S1474-4422(07)70194-1
Journal of Medical Case Reports; Barzegar M, Valaee F et. al.

Jan 13th, 2022 - Niemann-Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann-Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niem...

Concurrent myasthenia gravis-related cervical thymoma in a patient with diffuse large B...
https://doi.org/10.1186/s13256-021-03225-2 10.1097/JTO.0b013e3181f1f62d 10.5090/kjtcs.2017.50.4.312 10.1002/1097-0142(20011101)92:9<2406::AID-CNCR1589>3.0.CO;2-7 10.1111/j.1365-2559.2011.04111.x 10.5114/pjp.2017.67620 10.1016/j.tcmj.2014.05.009 10.1016/j.prp.2015.06.002 10.1532/IJH97.05192 10.1016/S1569-9293(03)00136-1 10.5858/2003-127-e76-CTACLL 10.1093/ajcp/101.4.432
Journal of Medical Case Reports; Kunacheewa C, Wongwiangjunt S et. al.

Jan 13th, 2022 - Cervical thymoma is a rare thymic epithelial neoplasm. Evidence supports an increased risk of second primary malignancies in patients with thymoma. We report a rare case of a patient with synchronous cervical thymoma and diffuse large B-cell lymphoma. An 81-year-old Thai woman was referred for further treatment of diffuse large B-cell lymphoma at Siriraj Hospital, Bangkok, Thailand. While waiti...

Sport-Related Concussion Preceding Adrenal Insufficiency and Hypopituitarism.
https://doi.org/10.1249/JSR.0000000000000926
Current Sports Medicine Reports; Northam WT, Alexander A et. al.

Jan 13th, 2022 - A 49-year-old woman with a history of daily inhaled corticosteroid use for asthma presented to a concussion clinic 7 wk after sport-related head injury with headache, visual blurring, dizziness, nausea, fatigue, polydipsia, and polyuria. Examination revealed difficulty with vestibulo-occulomotor testing due to nausea and visual straining. Cranial CT/MR imaging was unremarkable. Laboratory testi...

Arteritic Anterior Ischemic Optic Neuropathy in the Course of Giant Cell Arteritis Afte...
https://doi.org/10.12659/AJCR.933471
The American Journal of Case Reports; Szydełko-Paśko U, Przeździecka-Dołyk J et. al.

Jan 12th, 2022 - BACKGROUND Giant cell arteritis (GCA) is an inflammation of large vessels that affects the lining of the arteries and leads to vessel swelling and the eventual reduction of blood flow. This can result in ischemia of the optic nerve, which is known as arteritic anterior ischemic optic neuropathy (AAION). The present case seems noteworthy because the patient developed GCA with the ocular manifest...

Navigation-guided nasal endoscopic surgery for acute vision loss caused by fibrous dysp...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742396
BMC Surgery; Liu W, Jiang W et. al.

Jan 9th, 2022 - Bone fibrous dysplasia is a benign disease of bone tissue dysplasia. Vision impairment is the commonest neurological complication of craniofacial fibrous dysplasia. Most of the vision loss caused by craniofacial fibrous dysplasia is usually a gradual process. Very few present with acute visual impairment as described in our case. We report a patient with fibrous dysplasia presenting rapidly pro...

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplicati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740465
BMC Neurology; Nan H, Wu Y et. al.

Jan 9th, 2022 - Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Nav1.4 alpha subunit (SCN4A) gene underlie a diverse group of dominantly inherited nondystrophic myotonias that run the spectrum from subclinical myopat...

Predictors of preoperative cognitive dysfunction in adults with Moyamoya disease: a pre...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734217
BMC Neurology; Sun J, Shi Z et. al.

Jan 8th, 2022 - To explore potential risk factors of preoperative cognitive dysfunction in adult patients with moyamoya disease (MMD) and discuss significance of moyamoya vessels. The author reviewed adult MMD patients harboring no parenchymal infarction or hemorrhage underwent a standardized neuropsychological assessment test battery from December 2018 to May 2019. The authors defined patients with cognitive ...

Abdominal cyst of unclear aetiology: gastrointestinal stromal tumour or reactivation of...
https://doi.org/10.1136/bcr-2021-245767
BMJ Case Reports; Saxena D, Duncan RA et. al.

Jan 8th, 2022 - Differential diagnosis of a new abdominal mass is broad and includes infection, malignancy and other inflammatory processes. Definitive diagnosis may be challenging without invasive biopsy, as history, physical exam and imaging may be non-specific. A 69-year-old man with a history of abdominal tuberculosis presented with a new painful abdominal cyst consistent with reactivation of tuberculosis ...

Erythema nodosum leprosum (type 2 reaction) in a patient with neurofibromatosis type 1.
https://doi.org/10.1136/bcr-2021-245174
BMJ Case Reports; George R, D'Souza S et. al.

Jan 8th, 2022 - Being a region endemic for leprosy, clinical practitioners in India often encounter myriad manifestations and diverse complications of the disease. However, the masking of the obvious clinical presentations due to the coexistence of a closely resembling unrelated disorder, a 'mimicker', would indeed pose a serious diagnostic predicament unless a high degree of clinical suspicion is maintained. ...

Uncommon cause of respiratory failure due to a bezoar in the hypopharynx: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739710
BMC Gastroenterology; Adeli SH, Sehat M et. al.

Jan 8th, 2022 - Trichotillomania and trichophagia cause trichobezoars, which are masses made of hair. The main presentation of this condition is abdominal pain. However, other complications include gastric outlet obstruction, nausea, vomiting, weight loss, malnutrition, hematemesis, diarrhea, and constipation. A 57-year-old woman with trichotillomania was admitted to the Emergency Department with the chief com...

Type B lactic acidosis associated with diffuse large B-cell lymphoma and the Warburg ef...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8743961
The Journal of International Medical Research; Wang C, Lv Z et. al.

Jan 7th, 2022 - Type B lactic acidosis is a rare complication of non-tissue perfusion abnormalities caused by solid tumors or hematologic malignancies. Herein, we present the case of a 42-year-old man with type B lactic acidosis and hypoglycemia who was found to have a diffuse large B-cell lymphoma. The cause of lactic acidosis and/or hypoglycemia is thought to be the Warburg effect, which is when the metaboli...

Atypical skin manifestation in severe acute chikungunya infection in a pregnant woman: ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8731213
Journal of Medical Case Reports; Benjamanukul S, Chansaenroj J et. al.

Jan 7th, 2022 - Patients with chikungunya virus infection commonly present with fever, skin rash, and severe joint pain. The vesiculobullous rash is rare in adults but common in infants. In addition, septic shock and acute respiratory distress syndrome are rare complications of atypical and severe acute chikungunya infection. We report the presence of an 18-year-old Thai female, at 31 weeks gestation, with fev...

A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a cas...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8729002
BMC Neurology; de Leon MAJ, Rosales RL et. al.

Jan 7th, 2022 - Myoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic jerks and dystonia that may have psychiatric manifestations. Our aim is to present neurologic and psychiatric phenotypic characteristics in the first Filipino bi-ethnic myoclonus-dystonia patient and her father. We investigated a Filipino myoclonus-dystonia p...

Spontaneous Intracerebral Hemorrhage (ICH) associated with pregnancy and SARS-CoV-2 inf...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8731675
BMC Pregnancy and Childbirth; Dini P, Aminimoghaddam S et. al.

Jan 7th, 2022 - Coronavirus Disease 2019 (COVID-19) is predominately known as a respiratory disease associated with pneumonia, acute respiratory distress syndrome and multiorgan failure. However, extra-pulmonary complications of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are increasingly being recognized. In this regard, some studies implied the hemostatic and vascular involvements in patient...

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.
https://doi.org/10.1136/bcr-2021-246431
BMJ Case Reports; Vemireddy K, Panigrahy N et. al.

Jan 6th, 2022 - Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive inherited inborn error of metabolism, which presents with various severity depending on the level of residual enzyme activity. In neonates, it can present with recurrent hypoventilation episodes, persistent encephalopathy with or without microcephaly. MTHFR deficiency also results in hyperhomocysteinemia, homoc...

Chronic aseptic meningitis caused by enterovirus in a humorally immunosuppressed adult ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725248
BMC Infectious Diseases; Anderson SM, Gold D et. al.

Jan 6th, 2022 - Enterovirus has been described as a cause of aseptic meningitis in humorally immunosuppressed patients. A 67-year-old female with a history of mantle cell lymphoma on rituximab therapy presented with subacute hepatitis, myalgias, and sensorineural hearing loss several months after an initial febrile illness. She was diagnosed with enterovirus infection by CSF PCR as a unifying etiology of her p...

Bidirectional screening and treatment outcomes of diabetes mellitus (DM) and Tuberculos...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725264
BMC Infectious Diseases; Nyirenda JLZ, Wagner D et. al.

Jan 6th, 2022 - There are efforts in low and middle-income countries (LMICs) to integrate Tuberculosis (TB) and Diabetes mellitus (DM) healthcare services, as encouraged by WHO and other international health organizations. However, evidence on actual effect of different integration measures on bidirectional screening coverages and or treatment outcomes for both diseases in LMICs is scarce. Retrospective chart ...

Intestinal microsporidiosis among HIV/AIDS patients receiving antiretroviral therapy in...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8724650
BMC Infectious Diseases; Al-Brhami KAR, Abdul-Ghani R et. al.

Jan 6th, 2022 - Intestinal microsporidiosis is an opportunistic infection associated with persistent diarrhea among HIV/AIDS patients. In Yemen, however, its epidemiology is unknown. Therefore, this study determined its prevalence and predictors among HIV/AIDS patients receiving antiretroviral therapy (ART) in Sana'a city, the capital of Yemen. This cross-sectional study included 402 patients receiving ART at ...

Respiratory effects of lung recruitment maneuvers depend on the recruitment-to-inflatio...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727044
Critical Care (London, England); Zerbib Y, Lambour A et. al.

Jan 6th, 2022 - In the context of acute respiratory distress syndrome (ARDS), the response to lung recruitment maneuvers (LRMs) varies considerably from one patient to another and so is difficult to predict. The aim of the study was to determine whether or not the recruitment-to-inflation (R/I) ratio could differentiate between patients according to the change in lung mechanics during the LRM. We evaluated the...

Paraneoplastic dermatomyositis revealing undifferentiated nasopharyngeal carcinoma at e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725533
Journal of Medical Case Reports; Panandtigri S, Siaˡ NPX et. al.

Jan 5th, 2022 - Dermatomyositis is a rare autoimmune disease characterized by noninfectious inflammatory damage of skin and predominant muscles in the belts. It is believed to be associated with about 1 in 1000 cases of nasopharyngeal carcinoma. This association has been described for locally advanced stages II and III nasopharyngeal carcinoma. It has rarely been described in the early stages (stage I). A 65-y...