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Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study.

BackgroundRare diseases (RDs) affect 10% of the global population but have inadequate medical resources. Early detection and treatment are crucial, yet many emergency physicians lack awareness of RDs. This study aims to evaluate the effects of continuing medical education (CME) on the knowledge and attitude of emergency physicians.MethodsThis retrospective study was conducted from April to June 2023, involving 218 Chinese emergency physicians. The online questionnaire consisted of four groups and 30 questions, covering demographic data, knowledge, and attitudes regarding RDs. Respondents were

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… Acromegaly was the most likely misidentified disease in both groups (14.8% and 10.0%, respectively) (Table 4 ). … hemolytic uremic syndrome | 58 (26.6) | 32 (29.6) | 26 (23.6) Autoimmune encephalitis | 44 (20.2) | 18 (16.7) | 26 (23.6) Systemic lupus erythematosus | 10 (4.6) | 3 (2.8) | 7 (6.4) Castleman disease | 102 (46.8) | 58 (53.7) | 54 (49.1) Generalized myasthenia gravis | 33 (15.1) | 15 (13.9) | 18 (16.4) Acromegaly …

Factors controlling blood concentration of somatomedin C.

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Somatomedin levels in childhood, adolescence and adult life.

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Insulin Resistance at the Crossroads of Metabolic Inflammation, Cardiovascular Disease, Organ Failure and Cancer.

Insulin resistance (IR) describes impaired hormone signaling that triggers compensatory homeostatic responses resulting in hyperinsulinemia, increased accumulation of fatty substrates, lipotoxicity, oxidative stress, inflammation, cell death and fibrosis in target tissues. These processes ultimately lead to organ dysfunction and predispose certain individuals to various types of cancer. In this context, we will review the molecular pathogenesis and clinical significance of IR, its role in 'metaflammation', and the damage caused by IR in the pancreas, cardiovascular system, liver, and kidneys.

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… Acromegaly | Humans | An excess of GH antagonizes insulin action at the level of liver, skeletal muscle, and adipose tissue via multiple pathways, most prominently by enhancing lipolysis and disrupting insulin signaling at the post-receptor level. | Acromegaly leads to a variety of cardiometabolic disorders … Insulin Resistance in Patients With Acromegaly. Front. Endocrinol. 2019;10:509. doi: 10.3389/fendo.2019.00509. 43. Beaupere C., Liboz A., Fève B., Blondeau B., Guillemain G. Molecular Mechanisms of Glucocorticoid-Induced Insulin Resistance. Int. J. Mol. …

Bone Metabolic Markers in Patients with Obstructive Sleep Apnea Syndrome.

BACKGROUND: Obstructive sleep apnea syndrome (OSAS) is prevalent in obesity and is associated with many metabolic abnormalities. The relationship between OSAS and bone metabolism is still unclear. The aim of this study was to investigate the relationship between the severity of OSAS and bone metabolic markers. METHODS: A total of 119 obese males were enrolled in this study in spring months from 2015 to 2017. All candidates underwent polysomnography, and their bone mineral density (BMD) and the serum levels of total procollagen type 1 N-terminal propeptide (t-P1NP), N-terminal midfragment of o

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… acute illness, chronic obstructive pulmonary diseases, any other respiratory disorder, diabetes, hypertension, coronary heart diseases, heart failure, hyperthyroidism, hypothyroidism, hyperparathyroidism, hypoparathyroidism, Cushing syndrome, hypogonadism, hypopituitarism, growth hormone deficiency, acromegaly … We also excluded the patients with diseases and drugs that affect bone metabolic markers, such as thyroid and parathyroid diseases, Cushing syndrome, growth hormone deficiency, acromegaly, gastrointestinal diseases, chronic renal disease, multiple myeloma, malignancy, bone metastasis, and Paget's disease …

An expanding horizon of complex injectable products: development and regulatory considerations.

There has been a constant evolution in the pharmaceutical market concerning the new technologies imbibed in delivering drug substances for various indications. This is either market-driven or technology-driven to improve the overall therapeutic efficacy and patients' quality of life. The pharmaceutical industry has experienced rapid growth in the area of complex injectable products because of their effectiveness in the unmet market. These novel parenteral products, viz, the nanoparticles, liposomes, microspheres, suspensions, and emulsions, have proven their worth as "Safe and Effective" produ

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… . | Somatuline ® Depot | Lanreotide acetate | Synthetic cyclical octapeptide | Solution Pre-filled syringe | 60 mg/0.2 mL, 90 mg/0.3 mL, 120 mg/0.5 mL | Acetic acid, WFI | Acromegaly, gastroenteropancreatic neuroendocrine tumor and carcinoid tumor treatment | S.C. | Recommended dosage Acromegaly: 90 … exceed 50 mg every 2 weeks | Oct 29, 2003 | Janssen Pharmaceuticals Inc | [ 38 ] 26. | Sandostatin LAR ® Depot | Octreotide acetate | Peptide | Microparticle | Equation 10, 20 or 30 mg base/vial | Octreotide distributed within PLGA copolymer; mannitol Diluent: Na-CMC, mannitol, poloxamer 188, WFI | Acromegaly …

Автосоматический синдром снотворного синдрома спящей апноэ из-за нового варианта c.980_984dup в COL1A2: A Case Report.

Осложненный синдром апноэ (OSAS) — сложное расстройство, характеризующееся коллапсом верхних дыхательных путей во время сна. Хотя история семьи часто свидетельствует о наследственной предрасположенности к ОСУС, нет никаких доказательств того, что это на самом деле моногенное расстройство. До настоящего времени не было описано ни одного случая, когда пациент с наследственным OSA из-за патогенной мутации в цепи коллагенов типа I альфа-2 (COL1A2). Пациенткой была 72-летняя женщина, которая страдала бессонницей с 35 лет. С тех пор ОСУС подозревалось, но было подтверждено только в возрасте 67 лет п

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… OSAS is associated with obesity, airway constriction (e.g., narrow throat, large tongue, small mandible), enlarged tonsils, use of sedatives, alcohol or tobacco, hypertension, diabetes, acromegaly, Down syndrome, ALS, chronic nasal congestion, and a family history of OSAS [ 3 ]. …

Yellow nail syndrome: a review.

Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a triad associating yellow nail discoloration, pulmonary manifestations (chronic cough, bronchiectasia, pleural effusion) and lower limb lymphedema. Chronic sinusitis is frequently associated with the triad. YNS etiology remains unknown but a role of lymphatic impairment is usually evoked. YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clini

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… One initial octreotide responder became “resistant”, suggesting tachyphylaxis to long-lasting treatment, as previously described for acromegaly patients receiving chronic treatment. Lanreotide, an alternative somatostatin analog, may be useful for such cases [ 47 , 109 ]. … Wahid ST Marbach P Stolz B Miller M James RA Ball SG Partial tachyphylaxis to somatostatin (SST) analogues in a patient with acromegaly: the role of SST receptor desensitisation and circulating antibodies to SST analogues Eur J Endocrinol 2002 146 295 302 10.1530/eje.0.1460295 11888834 110. …

Medical imaging.

There is now a wide choice of medical imaging to show both focal and diffuse pathologies in various organs. Conventional radiology with plai … CT will in any case be requested or views of the internal auditory meatus and heal pad thickness in acromegaly, to quote some examples. Other issues are more complicated. Should the patient who clinically has gall-bladder disease have more than a plain film that shows gall-stones? If the answer is yes, then why request a plain film if sonography will in any …

Engineering with Biomedical Sciences Changing the Horizon of Healthcare-A Review.

In the dynamic realm of healthcare, the convergence of engineering and biomedical sciences has emerged as a pivotal frontier. In this review we go into specific areas of innovation, including medical imaging and diagnosis, developments in biomedical sensors, and drug delivery systems. Wearable biosensors, non-wearable biosensors, and biochips, which include gene chips, protein chips, and cell chips, are all included in the scope of the topic that pertains to biomedical sensors. Extensive research is conducted on drug delivery systems, spanning topics such as the integration of computer modelin

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… Sun pharma Ovarian cancer; sarcoma 9 Doxorubicin hydrochloride 2017 Doxorubicin hydrochloride DSPC and cholesterol Dr Reddys Ovarian cancer; sarcoma 10 Microsphere 11 Lupron Depot 1989 Leuprolide Acetate PLGA Abbvie Advanced prostatic cancer 12 Sandostatin Lar 1998 Octreotide acetate PLGA Novartis Acromegaly … 23 | Eligard | 2002 | Leuprolide acetate | PLGA(Atrigel) | Tolmar | Advanced prostate cancer 24 | Abraxane | 2005 | Paclitaxel | Protein nanoparticle | Protein nanoparticle | Metastatic Breast Cancer; Non-Small Cell Lung Cancer 25 | Somatuline Depot | 2007 | Lanreotide acetate | Nanotube | Ipsen | Acromegaly …

Comprehensive Diagnosis and Management of POEMS Syndrome.

Polyneuropathy Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes syndrome is a rare multisystem condition with a range of manifestations which are often overlooked as trivial comorbidities, until their whole triggers the possibility of the diagnosis. The diagnosis is typically delayed by 12-16 months, by which time patients can be severely disabled. There are no established consensus guidelines. We provide clinicians a comprehensive blueprint for managing POEMS from diagnostic suspicion through the work-up, selection of therapy, follow-up, and treatment of relapse based on publ

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… Some cases with pituitary disease, including acromegaly, 37 pituitary macroadenoma 38 and empty sella, 34 have been described in POEMS; however, the low frequency of these cases precludes a definite causative link. … Chronic myeloid leukemia and acromegaly in POEMS syndrome. Leuk Res . 2002 ; 26 : 1135 – 1137 . 12443888 10.1016/s0145-2126(02)00076-0 38. Bruno C Fleck JD Cavaghan MK . …

Rare diseases and orphan drugs: Latvian story.

BackgroundTen years have passed since Latvia became a Member State of the EU in 2004. As a result European regulations, including those related to rare diseases and orphan drugs, have been applied to Latvian legislative system. Orphan diseases have been recognized as a priority area for action in the public health system, though there are significant differences in the national healthcare services for rare diseases among the EU States. This study aims to determine situation in the field of rare diseases in Latvia and compare it with other European countries.MethodsWe used the national plan for

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… Center of endocrinology of PSCUH has created several data bases of patients with rare endocrine diseases, such as acromegaly, Cushing’s disease, and MEN (multiple endocrine neoplasia) syndrome [ 8 ]. … RSU); Nonsyndromic hearing loss (Clinic of Medical Genetics, CCUH); Nonsyndromic orofacial clefts, familial melanoma, MODY (maturity onset diabetes of the young) type diabetes, congenital muscular dystrophies and familial hypercholesterolaemia (LBRSC); Genetics and effectiveness of treatment of acromegaly …

Innovative Peptide Therapeutics in the Pipeline: Transforming Cancer Detection and Treatment.

Cancer remains a leading global health burden, profoundly affecting patient survival and quality of life. Current treatments-including chemotherapy, radiotherapy, immunotherapy, and surgery-are often limited by toxicity or insufficient specificity. Conventional chemotherapy, for instance, indiscriminately attacks rapidly dividing cells, causing severe side effects. In contrast, peptide-based therapeutics offer a paradigm shift, combining high tumour-targeting precision with minimal off-target effects. Their low immunogenicity, multi-pathway modulation capabilities, and adaptability for diagnos

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… Paltusotine, the first oral SST2 agonist (in development for acromegaly), showcases how receptor-subtype selectivity and improved pharmacokinetics can enhance treatment efficacy and compliance [ 100 ]. … In human trials, oral octreotide/OS achieved comparable pharmacokinetics and growth hormone suppression to subcutaneous injections—a key therapeutic benchmark for acromegaly [ 148 ]. …

Недооцененная причина гиперкальцемии: доклад о деле о синдроме Молка-Алкали.

Молоко-щелочный синдром (MAS) был впервые охарактеризован как отрицательное воздействие режима Sippy, в котором содержится большое количество бикарбоната натрия, что создает клинический сценарий, в котором гиперкальцемия, метаболический алкалоз и острая почечная недостаточность могут создать одновременные характеристики MAS. Синдром возобновился из-за широкого применения добавок кальция. A 50-year-old Белая женщина была доставлена в отделение скорой помощи ее врачом-терапевтом после случайного обнаружения гиперкальцемии во время проверки на усталость. У нее диагностировали острую почечную недо

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… Key differential diagnoses for hypercalcemia include familial hypocalciuric hypercalcemia (FHH), malignancy, primary hyperparathyroidism, medication-induced causes (e.g., thiazides and lithium), granulomatous diseases (e.g., sarcoidosis), hyperthyroidism, adrenal insufficiency, acromegaly, and vitamin …

Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.

Extreme hypertriglyceridemia, defined as triglyceride (TG) levels ≥1000 mg/dL, is almost always indicative of chylomicronemia. The current diagnostic approach categorizes individuals with chylomicronemia into familial chylomicronemia syndrome (FCS; prevalence 1-10 per million), caused by the biallelic combination of pathogenic variants that impair the lipolytic action of lipoprotein lipase (LPL), or multifactorial chylomicronemia syndrome (MCS, 1 in 500). A pragmatic framework should emphasize the severity of the phenotype and the risk of complications. Therefore, we endorse the term "persiste

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… Table 2 Categories Examples Hormonal changes Pregnancy, poorly controlled diabetes, central obesity with insulin resistance and metabolic syndrome, hypothyroidism, acromegaly, Cushing syndrome, Lifestyle factors Ethanol consumption, high-fat diet, carbohydrate-rich diet, high fructose intake, sedentary … Categories | Examples Hormonal changes | Pregnancy, poorly controlled diabetes, central obesity with insulin resistance and metabolic syndrome, hypothyroidism, acromegaly, Cushing syndrome, Lifestyle factors | Ethanol consumption, high-fat diet, carbohydrate-rich diet, high fructose intake, sedentary …

[Expert consensus on the diagnosis and treatment of obstructive sleep apnea in women].

Obstructive sleep apnea (OSA) shows sex differences in the pathophysiology, epidemiology, and clinical presentation. Women have different ch … bearing age: The prevalence of OSA in women is lower than in men. However, obesity, hypothyroidism, acromegaly, and polycystic ovary syndrome increase the risk of OSA, and these patients should be screened for OSA; (3) Pregnancy: hormonal effects, uterine enlargement, and weight changes increase the risk of OSA, especially in those with a history of snoring …

Non-diabetic hypoglycemia: bridging gaps in diagnosis and treatment: a position statement report by the Arabic Association for the Study of Diabetes and Metabolism (AASD).

BACKGROUND: Non-diabetic hypoglycemia presents a substantial diagnostic challenge due to its diverse and often nonspecific symptomatology. The resultant delay in diagnosis can lead to a myriad of misdiagnoses. This misidentification not only prolongs patient suffering but also elevates the risk of severe complications, such as permanent neurologic damage and mortality. Recognizing the clinical nuances of non-diabetic hypoglycemia is paramount for timely and accurate diagnosis, which ultimately enhances patient outcomes and safety. MAIN BODY: A position statement has been formulated by the Ara

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… Conversely, hyperglycemia is common in acromegaly, though hypoglycemia may indicate insulinoma or MEN 1 syndrome [ 12 ]. SSAs can disrupt the balance between GH, glucagon, and insulin, causing hyperglycemia or, less often, hypoglycemia [ 13 ]. … Effects of somatostatin analogs on glucose homeostasis: a metaanalysis of acromegaly studies. J Clin Endocrinol Metab. 2009;94(5):1500–8. 14. Kalra S, Unnikrishnan AG, Sahay R. The hypoglycemic side of hypothyroidism. Indian J Endocrinol Metab. 2014;18(1):1–3. 15. …

Hereditary transthyretin amyloidosis presenting with carpal tunnel syndrome.

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… Causes of carpal tunnel syndrome 4 Mechanical causes | Endocrine disorders | Inflammatory disorders | Infiltrative disorders | Miscellaneous Overuse injuries Vibratory injuries (e.g., use of power tools) Local fractures or dislocations Osteoarthritis Cysts and tumours | Diabetes mellitus Hypothyroidism Acromegaly …

Does Therapeutic Repurposing in Cancer Meet the Expectations of Having Drugs at a Lower Price?

Therapeutic repurposing emerged as an alternative to the traditional drug discovery and development model (DDD) of new molecular entities (NMEs). It was anticipated that by being faster, safer, and cheaper, the development would result in lower-cost drugs. As defined in this work, a repurposed cancer drug is one approved by a health regulatory authority against a non-cancer indication that then gains new approval for cancer. With this definition, only three drugs are repurposed for cancer: Bacillus Calmette-Guerin (BCG) vaccine (superficial bladder cancer, thalidomide [multiple myeloma], and p

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… The FDA first approved octreotide in 1988; lanreotide was approved for acromegaly treatment in Europe in the 1990s and FDA-approved in 2007; and pasireotide was approved by the FDA in 2014. … These three analogs with different formulations are labeled for acromegaly (cases where surgery is not appropriate, after the failure of surgery and radiotherapy, or in the interim period until radiotherapy is entirely effective). …

Do payers value rarity? An analysis of the relationship between disease rarity and orphan drug prices in Europe.

Background and Objective: Orphan drugs have been a highlight of discussions due to their higher prices than non-orphan drugs. There is currently no European consensus on the method of value assessment for orphan drugs. This study assessed the relationship between the prevalence of rare diseases and the annual treatment cost of orphan drugs in France, Germany, Italy, Norway, Spain, Sweden, and UK. Methods: Approved orphan drugs and prevalence data were extracted from the European Medicines Agency website. Annual treatment costs were calculated using ex-factory price. Simple regression was used

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… purpura 2.50 Savene Extravasation of diagnostic and therapeutic materials 0.03 Scenesse** Erythropoietic protoporphyria 0.19 Signifor Cushing’s disease 1.20 Siklos Sickle cell anaemia 0.50 Sirturo Pulmonary multidrug resistant tuberculosis 2.00 Soliris Paroxysmal nocturnal haemoglobinuria 0.10 Somavert Acromegaly … Extravasation of diagnostic and therapeutic materials | 0.03 Scenesse** | Erythropoietic protoporphyria | 0.19 Signifor | Cushing’s disease | 1.20 Siklos | Sickle cell anaemia | 0.50 Sirturo | Pulmonary multidrug resistant tuberculosis | 2.00 Soliris | Paroxysmal nocturnal haemoglobinuria | 0.10 Somavert | Acromegaly …