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to establish effective and successful deprescription strategies.
To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis.
By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD.
Excessive accumulation of amniotic fluid was observed during pregnancy. The patient was born prematurely with normal body weight. The patient was a 4-month old boy admitted for anorexia, watery diarrhea, electrolyte disorders (hyponatremia, hypokalemia and hypochloremia) and metabolic alkalosis. The patient was also considered to be affected by Batter syndrome. After treating with spironolactone, indomethacin and potassium chloride sustained release tablet, the symptom of watery diarrhea was alleviated, the ingested amount of milk increased gradually and the amount of urine became normal; however, electrolyte imbalance persisted and the te detection and SLC26A3 genetic tests are helpful for diagnosis, and sodium chloride and potassium chloride replacement therapy are critical for the patient prognosis.
Persistent diarrhea and electrolyte disorder in pediatrics are easy to misdiagnose as CLD. Furthermore, it is difficult to identify Batter syndrome, Gitelman syndrome, renal tubular acidosis and CLD. Blood and stool electrolyte detection and SLC26A3 genetic tests are helpful for diagnosis, and sodium chloride and potassium chloride replacement therapy are critical for the patient prognosis.Pediatric hypoparathyroidism (HPT) is caused by inherited or acquired defects involving the synthesis or secretion of PTH, resistance to PTH action, or inappropriate regulation of PTH. Several syndromes such as DiGeorge syndrome, HDR (hypoparathyroidism, sensorineural deafness and renal dysplasia) syndrome, HRD (hypoparathyroidism, retardation, and dysmorphism) syndrome, Kenny-Caffey syndrome etc. may have associated HPT. In the present communication, we describe, the hitherto unreported, occurrence of HPT in a child with partial Jacobsen syndrome. Chromosomal Microarray analysis showed a heterozygous deletion of 4.7 Mb at cytoband 11q24.3q25 encompassing approximately 20 genes including JAM3 and NTM genes. The child was treated with recombinant human parathyroid hormone (rhPTH1-34) for 10 years. Throughout follow up, he required several adjustments in dosages of rhPTH1-34 and oral calcium to maintain serum calcium concentrations in low normal ranges. The bone turnover markers remained normal and oral calcium supplements were completely taken off after 8 years. In conclusion, our single-case experience indicates that long-term therapy of chronic HPT with rhPTH1-34 is safe and reduces the need for additional therapies.
Metformin is a widely used drug in treating type 2 diabetes and insulin resistance and nowadays scientists are searching for new poten-tial and multiple roles in prevention and treatment of carcinogenic processes.
The aim of the study was to compare the impact of normoglycemia and hyperglycemia with doses of metformin on vivacity and prolifer-ation of cancer cell lines (MCF-7, MCF-7/DX, A549, CCRF/CEM, THP-1, NHDF).
We designed our experiment using raising glucose environment (40 mM, 100 mM, 150 mM, 300 mM) and we added increasing con-centrations of metformin (5 mM, 10 mM, 20 mM, 30 mM). We incubated cells for 24 h, 48 h, 72 h, 96 h. In order to measure of viabil-ity of cancer cells we use MTT assay - a typical test to mark cytotoxic effects of tested substances.
Analysis indicated that populations of cancer cells in our terms was lowering, the incubation of 24 h and 48 h showed favorable results than 72 h and 96 h. In normoglycemic environment (glucose level about 100 mM) and after added metformin in various concentrations we observed decreasing percentage of vivid cells for all cancer cell lines (MCF-7, MCF-7/DX, A549, CCRF/CEM, THP-1).
The results of our study showed beneficial effects of metformin on decreasing proliferation of cancer cells. Percentage of vivid popula-tions were lowering and we confirmed anti-cancer effect of this drug.
The results of our study showed beneficial effects of metformin on decreasing proliferation of cancer cells. Percentage of vivid popula-tions were lowering and we confirmed anti-cancer effect of this drug.Multiple endocrine neoplasia 2B (MEN 2B) is a rare syndrome caused by mutation of the RET proto-oncogene. Early-onset medullary thyroid carcinoma (MTC), marfanoid habitus, and mucosal neuromas occur in most cases, and some patients develop pheochromocytoma in later life. BGB324 chemical structure We present a case of a 16-year-old girl diagnosed with MEN 2B syndrome with an atypical course of the disease. Our patient had no family history of MTC and presented short stature instead of marfanoid features. Rare ophthalmological manifestations also occurred. The example of this patient proves that rare endocrinological syndromes should be taken into consideration when diagnosing unclear symptoms, even if not all of the typical manifestations are present.
Due to the Coronavirus disease 2019 (COVID-19) outbreak and the national emergency state, virtual visits were implemented as an alternative to in-person visits. With this study we aimed to establish asthma patients' general satisfaction with the quality of health care provided by virtual visits (phone or video calls).
A questionnaire (9 questions) was published on the Facebook page of the Portuguese Association of Asthmatics. It was available online for general self-reported asthmatic patients to answer for one month, starting on 11st May 2020. The survey only allowed one answer per registered user.
Fifty-five responses were obtained. Patients were satisfied with communication with providers (greater than 88%); nevertheless, one-half evaluated the virtual visit as inferior when compared to in-person visits. About one third attributed a classification of 6 or less (0-10 scale, 0 being the worst and 10 the best consultation possible), but still most of the patients would either recommend it or use this kind of medical visits in the future, even outside the actual pandemic context.
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