Background: Despite treatment, the mean final height (FH) of patients with classic congenital adrenal hyperplasia (CAH) is below the mean height of a normal population.
Aims: To show that CAH patients can achieve their target height (TH), 39 adult subjects, whose therapy had started in infancy, were studied in a retrospective analysis. All height SDS were corrected so that they related to TH SDS.
Patients: Group 1: patients born before 1975 (n = 13) had received prednisolone, at doses equivalent to hydrocortisone 39.4 +/- 15.6 mg/m2 BSA daily, together with DOCA in the first 2 years of life. Group 2: patients born from 1975 to 1986 (n = 26) received at this age lower hydrocortisone doses (16.4 +/- 6.9 mg/m2 BSA daily, divided 8 hourly; p < 0.001) combined with fludrocortisone, had outpatient visits every 3 months and bone age (BA) estimation every 6 months.
Results: Patients of group 1 (FH SDS -1.2 +/- 1.0) had a poor outcome, whereas patients of group 2 (FH SDS 0.1 +/- 0.9; p = 0.01) achieved their TH.
Conclusion: Combined corticoid administration adjusted quarterly to keep height, BMI, blood pressure and BA within normal limits resulted in FH close to TH in patients with classic CAH.
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http://dx.doi.org/10.1159/000129677 | DOI Listing |
Ann Hematol
January 2025
Department of Hematology, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou, 510180, China.
Acute promyelocytic leukemia (APL) is driven by the specific fusion gene PML-RARA produced by chromosomal translocation. Three classic isoforms, L, V, and S, are found in more than 95% of APL patients. However, atypical PML-RARA isoforms are usually associated with uncertain disease progression and treatment prognosis.
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Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
Purpose: HLA-G is a non-classical HLA class I gene encoding a molecule endowed with immunomodulatory properties, playing important immunosuppressive and tolerogenic roles in immuno-privileged organs. Fluctuations in its expression levels have been correlated with the predisposition to autoinflammatory disorders, notably uveitis, characterized by inflammation of the uvea. In the present work, DNA was obtained from saliva samples of 147 Spanish patients with uveitis, with subsequent analysis focusing on the distribution of polymorphisms within the 3'UTR region of the gene (a region known to modulate the expression of the HLA-G molecule).
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February 2025
The Azrieli Faculty of Medicine in the Galilee, Bar-Ilan University, Zefat, Israel.
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Department of Medicine, Ministry of National Guard-Health Affairs, Riyadh, SAU.
Background Thyroid nodules are typically an initial sign of thyroid cancer (TC) and require evaluation by thyroid ultrasonography. Additional measures, such as fine needle aspiration, may be necessary depending on the level of malignancy risk. This study aims to comprehensively analyze TC clinical, radiological, and histopathological characteristics in a cohort of Saudi patients.
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December 2024
Department of Dermatology, Venereology and Leprosy, Great Eastern Medical School & Hospital, Srikakulam, IND.
Leprosy, or Hansen's disease, is an ancient infectious disease characterized by varied clinical presentations influenced by the host's immune response. This study aimed to explore the atypical manifestations of Hansen's disease in a cohort of 15 biopsy-confirmed patients admitted to the Department of Dermatology, Venereology & Leprosy at a tertiary care center in Andhra Pradesh, India. There were 14 male patients and one female patient, with a mean age of 42.
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