Experiences with an extended programme of diagnostics in 29 children with ensured or suggested hereditary spherocytosis are assessed and the validity or necessity of individual standard methods for making a diagnosis are discussed. The diagnosis can be sufficiently ensured by the evidence of familiarity, haemolysis (reticulocytosis, icterus) and diminished osmotic resistance of erythrocytes. The value of glycerol lyse tests (AGLT) is especially referred to. Usually an investigation into erythrocyte kinetics is not necessary, there is no need for the very expensive autohemolysis test.
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Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns. The co-occurrence of both conditions within the same family is rare. In this case report, the proband was a 10 year-old boy who presented with eye and mouth orbicular muscles, shoulder and proximal upper and lower limbs weakness.
View Article and Find Full Text PDFFront Oncol
January 2025
Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.
View Article and Find Full Text PDFSci Rep
January 2025
Office of the National Agency for Drug Clinical Trials, Changsha Hospital for Maternal, Child Health Care of Hunan Normal University, 416 Chengnan Dong Rd, Yuhua, Changsha, 410007, Hunan, China.
Pulmonary sequestration (PS) is a rare congenital malformation that is characterized by the absence of a connection between a portion of the lung tissue and the tracheobronchial tree, with blood supply from arteries throughout the body. Abnormal lung tissue cannot perform the normal gas exchange function. In the absence of timely diagnosis and early intervention, some cases may need labor induction, and some of the infants who survive may develop symptoms in childhood.
View Article and Find Full Text PDFClin Exp Ophthalmol
January 2025
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Hereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations comprise a heterogeneous group of inherited disorders of the retina and vitreous, collectively and variably characterised by vitreal abnormalities, such as fibrillary condensations, liquefaction or membranes, as well as peripheral retinal abnormalities, vascular changes in some, an increased risk of retinal detachment and early-onset cataract formation. The pathology often involves the vitreoretinal interface in some, while the major underlying abnormality is vascular in others. Recent advances in molecular diagnosis and identification of the responsible genes and have improved our understanding of the pathogenesis, risks and management of the HVRs.
View Article and Find Full Text PDFIndian J Clin Biochem
January 2025
ICMR-National Institute of Research in Tribal Health, Jabalpur, 482003 India.
Sickle cell disease (SCD) and thalassemia are the most common hereditary disorders encountered in Central India. Timely identification of these disorders is critical to reduction in severe clinical manifestations and for identifying disease burden. Present study reports spectrum of hemoglobinopathies among the referred anemia patients to single centre in central India.
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