Publications by authors named "Gaydarova M"
Introduction: In pediatric kidney patients, where clinical presentation is often not fully developed, and renal biopsy is too risky or inconclusive, it may be difficult to establish the underlying pathology. In cases such as these, genetic diagnosis may be used to guide treatment, prognosis, and counseling. Given the large number of genes involved in kidney disease, introducing next-generation sequencing with extended gene panels as part of the diagnostic algorithm presents a viable solution.
View Article and Find Full Text PDFObjectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
Case Presentation: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status.
Article Synopsis
- This study analyzed mineral metabolism in a large group of 1,237 pediatric renal transplant recipients from 10 European countries, highlighting that abnormal mineral levels are prevalent among these patients.
- Key findings revealed that 25% experienced abnormal phosphorus levels, 30% had altered calcium levels, and 41% showed hyperparathyroidism, indicating significant mineral imbalances.
- Importantly, higher levels of certain minerals were linked to a greater risk of graft failure, underscoring the need for close monitoring of mineral levels in pediatric transplant care.
Objective. To describe the clinical characteristics of IPEX syndrome in a child with FOXP3 mutation. Clinical Case.
View Article and Find Full Text PDF[The value of anesthesia consultation in relation to the single preanesthetic visit].
Ann Fr Anesth Reanim
October 1999
Objective: In France, a preanaesthetic assessment (PAA) several days prior to hospital admission for a scheduled surgical or diagnostic procedure under anaesthesia, associated with a preanaesthetic visit (PAV) the day before, are compulsory. This study aimed at comparing the benefits of PAA with those of a PAV not preceded by a PAA.
Study Design: Prospective, controlled, randomized study.