Introduction And Objective: Rett syndrome was described in 1966 and became known through the English medical literature in 1983. There are typical and atypical forms. The objective of this study was to record the cases diagnosed in Spain and discover their clinical characteristics in order to describe its phenotype and geographical distribution.
Patients And Methods: We know of 207 cases and have obtained the records of 168 of these patients. A protocol and data collection programme has been developed giving the criteria for inclusion, and data which support or exclude this. Data collection was by post and the data for identification were the date of birth and the initials of the name and two surnames. With these variables, double-registering of patients was almost impossible. A statistical study with descriptive analysis and a study of continuous and alternating variables was immediately done.
Results And Conclusion: The results gave the main characteristics, the differences between typical and atypical cases and a comparative study of variables. It has given clinical data which may be useful for prognosis of the condition in the future.
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Rev Clin Esp (Barc)
January 2025
Servicio de Endocrinología y Nutrición, Hospital Universitario Ramón y Cajal, Madrid, Spain; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain. Electronic address:
Pheochromocytomas are neuroendocrine tumors that derive from sympathetic adrenomedullary chromaffin tissue and produce catecholamines. Due to the excess release of catecholamines, they can produce arterial hypertension, tachycardia, sweating, headache and a large number of other clinical manifestations secondary to the stimulation of α and β adrenoreceptors. Screening for pheochromocytoma is recommended in patients with paroxysmal, resistant or early-onset arterial hypertension, in cases with symptoms suggestive of catecholamine hypersecretion, patients with hereditary syndromes associated with pheochromocytomas, diabetes mellitus of atypical presentation and in adrenal incidentalomas with radiological characteristics not typical of adenoma (with > 10 Hounsfield Units on non-contrast CT).
View Article and Find Full Text PDFViruses
January 2025
Section of Dermatology, Department of Medical and Surgical Sciences, University of Foggia, Viale Pinto 1, 71122 Foggia, Italy.
Pityriasis rosea (PR) is a self-limited exanthem associated with the endogenous systemic reactivation of human herpesvirus (HHV)-6 and HHV-7. The disease typically begins with a single erythematous patch on the trunk (herald patch), followed by a secondary eruption of smaller papulosquamous lesions. Rarely, the herald patch may be the only cutaneous manifestation of PR.
View Article and Find Full Text PDFJ Clin Med
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Department of Plastic and Reconstructive Surgery, Peninsula Health, Melbourne, VIC 3199, Australia.
Basal cell carcinoma (BCC), the most common skin malignancy, typically occurs in sun-exposed areas but can develop in atypical locations, such as scars, burns, and skin graft donor sites. BCC arising specifically in full-thickness skin graft donor sites is exceptionally rare. This study presents a unique case of BCC occurring 16 years post-graft harvesting and provides a comprehensive literature review to analyze clinical patterns, possible etiopathogenesis, and treatment strategies.
View Article and Find Full Text PDFLife (Basel)
January 2025
Clinical Laboratory of Radiology and Medical Imaging, "Sf. Apostol Andrei" County Emergency Hospital, 900591 Constanta, Romania.
Aortic arch anomalies represent a range of congenital vascular malformations resulting from disruptions in the typical embryological development of the aortic arch and its branches. These anomalies, which vary widely in their presentation, can lead to significant clinical symptoms depending on their structure and position. We report the case of a 75-year-old male with intermittent hypertension, palpitations, and episodic warmth in the upper body.
View Article and Find Full Text PDFGenes (Basel)
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Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant :m.15309T>C (Ile188Thr). We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up.
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