keyword
https://read.qxmd.com/read/37324276/case-report-a-novel-mutation-in-tnfaip3-in-a-patient-with-type-1-diabetes-mellitus-and-haploinsufficiency-of-a20
#21
Conghui Cao, Xue Fu, Xiaoli Wang
BACKGROUND: Haploinsufficiency of A20 (HA20) is a monogenic autosomal-dominant genetic autoinflammatory disease caused by loss of function mutations in the TNFAIP3 gene. The predominant autoimmune phenotype associated with HA20 varies significantly, presenting with fever, recurrent oral and genital ulcers, skin rash, gastrointestinal and musculoskeletal symptoms, and other clinical manifestations, all of which indicate an early-onset of autoinflammatory disorder. Genetic linkage between TNFAIP3 and T1DM was reported in GWAS studies...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37280667/adrenal-insufficiency-management-in-the-pediatric-emergency-setting-and-risk-factors-for-adrenal-crisis-development
#22
JOURNAL ARTICLE
Enrica Abrigo, Jessica Munarin, Claudia Bondone, Gerdi Tuli, Emanuele Castagno, Luisa de Sanctis, Patrizia Matarazzo
BACKGROUND: In patients with adrenal insufficiency (AI), adrenal crisis (AC) represents a clinical emergency. Early recognition and prompt management of AC or AC-risk conditions in the Emergency Department (ED) can reduce critical episodes and AC-related outcomes. The aim of the study is to report the clinical and biochemical characteristics of AC presentation to improve their timely recognition and proper management in a ED setting. METHODS: Single-centre, retrospective, observational study on pediatric patients followed at the Department of Pediatric Endocrinology of Regina Margherita Children's Hospital of Turin for primary AI (PAI) and central AI (CAI)...
June 6, 2023: Italian Journal of Pediatrics
https://read.qxmd.com/read/37274338/case-report-hypercalcemia-as-a-manifestation-of-acute-adrenal-crisis-precipitated-by-fluconazole-use-and-a-review-of-the-literature
#23
REVIEW
Kuan Swen Choo, Jielin Yew, Eberta Jun Hui Tan, Troy Hai Kiat Puar
Acute adrenal crisis classically presents with vomiting, altered sensorium, and hypotension. We describe a unique case manifesting with severe hypercalcemia. Addisonian crisis was unusually precipitated by fluconazole use. We reviewed other reported cases and discuss the possible mechanisms of hypercalcemia in adrenal insufficiency. This 67-year-old man presented with fever, cough, and vomiting for 1 week and with anorexia and confusion for 3 weeks. He was hypotensive and clinically dehydrated. Investigations revealed left-sided lung consolidation, acute renal failure, and severe non-parathyroid hormone (PTH)-mediated hypercalcemia (calcium, 3...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37269395/management-and-outcomes-in-secondary-diabetes-among-pediatric-patients-hospitalized-with-hemophagocytic-lymphohistiocytosis
#24
JOURNAL ARTICLE
Cintya Schweisberger, Nila Palaniappan, Nicole M Wood, Lauren E Amos, Kelsee Halpin
OBJECTIVES: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder marked by massive cytokine release from macrophage and T-cell activation. Hallmarks include fever, splenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogemia, and elevations in ferritin and soluble IL-2 receptor. Given the association of HLH with inflammation and glucocorticoid therapy, the development of hyperglycemia is not unexpected. Descriptions of the prevalence of secondary diabetes in youth diagnosed with HLH are lacking...
June 5, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/37194238/thyroid-storm-caused-by-metastatic-papillary-thyroid-carcinoma-tissue-after-total-thyroidectomy-a-case-report
#25
So Hee Kwon, Min-Ji Kim, Sin Yeong Jung, Jae-Han Jeon
Thyroid storm is a life-threatening form of thyrotoxicosis and an endocrinological emergency. We present a case of thyroid storm in a patient with metastatic papillary thyroid cancer. A 67-year-old woman with a history of total thyroidectomy 4 years prior to presentation was admitted with deteriorating mental status, fever, and tachycardia. Laboratory tests revealed severe thyrotoxicosis. Although the patient had no residual thyroid tissue after total thyroidectomy, she had a previously diagnosed metastatic thyroid cancer lesion in the pelvic bone...
May 17, 2023: J Yeungnam Med Sci
https://read.qxmd.com/read/37182227/left-middle-cerebral-artery-occlusion-associated-with-mycoplasma-pneumonia-in-a-child-a-case-report
#26
Xiaoqian Jin, XiuHua Zuo
Cerebral infarction is a rare and severe manifestation of central nervous system damage caused by mycoplasma pneumoniae infection. We report that a 16-year-old girl was hospitalized with cough, expectoration and fever for 5 days and shortness of breath for 1 day. At the time of admission, the chest computed tomography showed double lung fields infiltration and pleural effusion. The detection of mycoplasma pneumoniae antibodies (IgG and IgM) were positive. The right limb movement of the patient was found incapacitated on the seventh day of hospitalization...
April 30, 2023: Neuro Endocrinology Letters
https://read.qxmd.com/read/37116029/pseudohypoparathyroidism-a-rare-cause-of-seizures-in-a-young-male
#27
JOURNAL ARTICLE
Prabhu S, Narayanaswamy, Nisha Jovita Mathias, Vinay K Konan
INTRODUCTION: Symptomatic hypocalcemia has a variety of underlying etiologies,with hypoparathyroidism and vitamin D deficiency being the most common. However,rarer etiologies such as pseudohypoparathyroidism, as is present in the current case, should not be overlooked. Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by parathyroid hormone (PTH) resistance. The diagnosis of this rare genetic condition is often delayed,due to its myriad presentations,leading to an initially inappropriate approach and therapy...
January 2023: Journal of the Association of Physicians of India
https://read.qxmd.com/read/37104908/high-risk-and-low-prevalence-diseases-thyroid-storm
#28
REVIEW
Samia Farooqi, Sonika Raj, Alex Koyfman, Brit Long
INTRODUCTION: Thyroid storm is a rare but serious condition that carries a high rate of morbidity and even mortality. OBJECTIVE: This review highlights the pearls and pitfalls of thyroid storm, including presentation, diagnosis, and management in the emergency department (ED) based on current evidence. DISCUSSION: Thyroid storm is a challenging condition to diagnose and manage in the ED. It is characterized by exaggerated signs and symptoms of thyrotoxicosis and evidence of multiorgan decompensation, usually occurring in the presence of an inciting trigger...
July 2023: American Journal of Emergency Medicine
https://read.qxmd.com/read/37091856/subacute-thyroiditis-following-covid-19-a-systematic-review
#29
Elahe Meftah, Rahem Rahmati, Fatemeh Zari Meidani, Sanaz Khodadadi, Kosar Chitzan-Zadeh, Fatemeh Esfahanian, Shiva Afshar
BACKGROUND: Subacute thyroiditis (SAT) is a self-limiting thyroid inflammatory disease occurring specifically after upper respiratory tract infections. Since COVID-19 is a respiratory disease leading to multi-organ involvements, we aimed to systematically review the literature regarding SAT secondary to COVID-19. METHODS: We searched Scopus, PubMed/MEDLINE, Cochrane, Web of Science, ProQuest, and LitCovid databases using the terms "subacute thyroiditis" and "COVID-19" and their synonyms from inception to November 3, 2022...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37074093/sepsis-induced-pancytopenia-in-an-adolescent-girl-with-thyroid-storm-a-case-report
#30
JOURNAL ARTICLE
Qing Zhou, Li-Yong Zhang, Qing-Xian Fu, Chao-Chun Zou, Hui Liu
Thyroid storm is a rare but life-threatening condition mainly triggered by infection and abrupt discontinuation of antithyroid drug therapy for Graves' disease. Pancytopenia is a rare adverse reaction to antithyroid drugs. We present a 13-year-old girl with thyroid storm and pancytopenia with symptoms similar to those of methimazole-induced pancytopenia. Although in this context the use of methimazole is still under debate, due to multiple normal complete blood counts monitored during fever, sepsis-induced pancytopenia with thyroid storm was considered, and methimazole treatment combined with methylprednisolone and meropenem was able to resolve both pancytopenia and thyroid storm...
April 19, 2023: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/37060353/coexistence-of-graves-disease-with-acute-rheumatic-fever-treated-as-thyroid-storm-in-young-thai-patient
#31
Witchuwan Onsoi, Khomsak Srilanchakon, Suphab Aroonparkmongkol, Vichit Supornsilchai
OBJECTIVES: This report presents a case of acute onset of chorea, concurrent Graves' disease, and acute rheumatic fever in an 8-year-old female patient. CASE PRESENTATION: The child had intermittent involuntary movement of all extremities and both eyes for 4 days, with a previous history of increased appetite, weight lost, and heat intolerance over a period of two months. Physical examination revealed fever, tachycardia, exophthalmos, eyelid retraction, as well as diffused thyroid enlargement...
June 27, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/36974230/a-novel-homozygous-mutation-of-aire-gene-in-a-patient-with-autoimmune-polyglandular-syndrome-type-i
#32
Camila M Tautiva-Rojas, Roberto Bogarin-Solano, Carlos Santamaría-Quesada, Mariana Pacheco-Muñoz
Autoimmune polyglandular syndrome type I (APS1) shows common features such as mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. The clinical manifestations and their onset are highly variable. Besides endocrine abnormalities, patients can present with dental problems, keratoconjunctivitis, fever, rash, chronic diarrhea, and autoimmune hepatitis. We discuss the case of a 5-year-old female who presented initially with a new-onset seizure due to severe hypocalcemia and was diagnosed with primary hypoparathyroidism...
February 2023: Curēus
https://read.qxmd.com/read/36777352/clinical-characteristics-of-antithyroid-drug-induced-aplastic-anemia-cases-over-the-past-30-years
#33
Ying Cheng, Xin-Yu Xia, Wei Zhang, Li Ren, Chen-Fu Tian, Dan Liu, Gang Xue
OBJECTIVE: The authors aimed to investigate the clinical characteristics of antithyroid drug-induced aplastic anemia cases over the past 30 years. METHODS: The data of patients with antithyroid drug-induced aplastic anemia were retrieved from PubMed and Wanfang Medical Network databases from 1992 to August 2022. The clinical characteristics, such as age distribution, gender tendency, common symptoms, blood cell count, bone marrow features, treatment strategy, and prognosis, were analyzed...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/36720125/clinical-picture-diagnostics-and-treatment-of-bacterial-meningitis
#34
JOURNAL ARTICLE
Robin Sín, Denisa Struncova, Lenka Cechurova
Bacterial meningitis is a serious infectious disease of the cerebral meninges, which occurs worldwide and threatens the lives of people of all ages. The largest number of cases in developed countries is caused by the gram-positive bacterium Streptococcus pneumoniae. Other more common agents are Neisseria meningitidis serotype B and Listeria monocytogenes. Fever is the most commonly reported symptom in paediatric patients, occurring in up to 93% of cases. Further, it is possible to observe headache, vomiting and positive meningeal phenomena...
December 31, 2022: Neuro Endocrinology Letters
https://read.qxmd.com/read/36714190/adrenal-lymphoma-case-reports-and-mini-review
#35
Emad Mofid Nassif Rezkallah, Ragai Sobhi Hanna, Wael Magdy Elsaify
INTRODUCTION: Adrenal lymphoma is a rare condition which may occur in one of two forms; either as primary adrenal lymphoma (PAL), or secondary to a systemic lymphoma. Primary adrenal lymphoma is a very rare diagnosis and the most common histological pattern is diffuse large B-cell non‑Hodgkin lymphoma. OBJECTIVES: In this study, we represent two examples of adrenal lymphoma, primary and secondary. In addition, we have included a mini-review of the literature regarding this rare presentation...
October 2022: International Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/36602911/pyogenic-spondylitis-due-to-streptococcus-agalactiae-with-paraspinal-abscess-and-vertebral-destruction-in-a-diabetic-patient-time-course-of-imagings
#36
JOURNAL ARTICLE
Tomoko Kobayashi, Takuya Iwata, Katsunari Handa, Hiroshi Arima
SUMMARY: A 76-year-old female with type 2 diabetes mellitus presented with hematuria, low back pain, and intermittent fever for 7 days. She was admitted to our hospital and diagnosed with Streptococcus agalactiae (GBS) bacteremia. CT showed an air density within the right iliopsoas muscle, and an MRI of the spine revealed hyperintensity in the right half of the L1-L2 intervertebral disk, leading to the diagnosis of a paraspinal abscess and L1-L2 pyogenic spondylitis. Antibiotic therapy was started and the clinical symptoms, as well as serologic biomarkers and radiologic images of the paraspinal abscess, were improved...
January 1, 2023: Endocrinology, Diabetes & Metabolism Case Reports
https://read.qxmd.com/read/36593179/electrolyte-abnormalities-and-stress-dosing-predict-illness-related-hospitalizations-among-infants-and-toddlers-with-congenital-adrenal-hyperplasia
#37
JOURNAL ARTICLE
Teresa Tseng, Amy Seagroves, Veeraya K Tanawattanacharoen, Mark C Liang, Christina M Koppin, Madison Keenan, Elana Davidowitz, Eugene Nguyen, Sanjay Chand, Mitchell E Geffner, Todd P Chang, Mimi S Kim
OBJECTIVE: Infants and toddlers with classical congenital adrenal hyperplasia (CAH) are at high risk for morbidity/mortality arising from life-threatening adrenal crisis. Management of acute illnesses in CAH requires an understanding of factors leading to emergency department (ED) visits and hospitalizations in the first few years of life. We, therefore, examined adrenal crisis at prehospital and ED stages of illness in young children with CAH as they related to medical outcomes. PATIENTS AND DESIGN: Retrospective cohort study of 39 children with CAH due to 21-hydroxylase deficiency (0-4 years of age) and 27 age-matched controls...
January 2, 2023: Clinical Endocrinology
https://read.qxmd.com/read/36555948/characteristics-of-sleep-disturbance-in-patients-with-long-covid-a-retrospective-observational-study-in-japan
#38
JOURNAL ARTICLE
Naruhiko Sunada, Yasuhiro Nakano, Yuki Otsuka, Kazuki Tokumasu, Hiroyuki Honda, Yasue Sakurada, Yui Matsuda, Toru Hasegawa, Daisuke Omura, Kanako Ochi, Hideharu Hagiya, Keigo Ueda, Hitomi Kataoka, Fumio Otsuka
OBJECTIVES: The objective of this study was to determine the clinical and endocrinological features of sleep disturbance in patients with long COVID. METHODS: This study was a single-center retrospective observational study for patients who visited the COVID-19 aftercare outpatient clinic (CAC) established in Okayama University Hospital in Japan during the period from 15 February 2021 to 29 July 2022. The long COVID patients were divided into two groups based on the presence or absence of sleep disturbance, and the clinical and laboratory characteristics of the patients were analyzed...
December 9, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/36533183/a-case-of-pheochromocytoma-associated-with-liver-abscess-and-intestinal-pseudo-obstruction
#39
Mikiko Okazaki-Hada, Izumi Fukuda, Ryuta Nagaoka, Mototsugu Nagao, Takehito Igarashi, Shunsuke Kobayashi, Takeshi Oba, Yuji Yamaguchi, Tomoko Nagamine, Iwao Sugitani, Hitoshi Sugihara
Pheochromocytomas can present with various symptoms. Nonspecific manifestations of pheochromocytoma include intestinal pseudo-obstruction and weight loss. Here, we present a case of pheochromocytoma in which prolonged intestinal pseudo-obstruction due to excess catecholamines was one of the factors leading to the development of a liver abscess. An 18-year-old male patient with a history of status epilepticus and severe intellectual disability was transferred to our hospital for a thorough examination of fever and constipation that had lasted for 2 months...
2022: Therapeutic Advances in Endocrinology and Metabolism
https://read.qxmd.com/read/36427218/intracardiac-thrombosis-following-intravenous-zoledronate-treatment-in-a-child-with-steroid-induced-osteoporosis
#40
Samantha J Case, Rebecca J Moon, Tara Bharucha, Justin H Davies
OBJECTIVES: Bisphosphonates are used in childhood osteoporosis but can cause an acute phase reaction (APR) and hypocalcemia. We present a child with cardiac thrombosis following zoledronate, a previously unreported complication. CASE PRESENTATION: An 11-year-old with Duchenne muscular dystrophy and steroid-induced osteoporosis presented 48 h after first zoledronate infusion with fever, tachycardia, tachypnoea and hypoglycaemia. This was managed as acute adrenal crisis and possible sepsis...
November 28, 2022: Journal of Pediatric Endocrinology & Metabolism: JPEM
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