-
HNO Aug 2023Hyperplasia of the pharyngeal tonsils is to be considered pathologic when nasopharyngeal symptoms of mechanical obstruction and/or chronic inflammation occur. Chronic... (Review)
Review
Hyperplasia of the pharyngeal tonsils is to be considered pathologic when nasopharyngeal symptoms of mechanical obstruction and/or chronic inflammation occur. Chronic Eustachian tube dysfunction can result in various middle ear diseases such as conductive hearing loss, cholesteatoma, and recurrent acute otitis media. During examination, attention should be paid to the presence of adenoid facies (long face syndrome), with a permanently open mouth and visible tip of the tongue. In the case of severe symptoms and/or failure of conservative treatment, adenoidectomy is usually performed on an outpatient basis. Conventional curettage remains the established standard treatment in Germany. Histologic evaluation is indicated for clinical evidence of mucopolysaccharidoses. Due to the risk of hemorrhage, the preoperative bleeding questionnaire, which is obligatory before every pediatric surgery, is referred to. Recurrence of adenoids is possible despite correct adenoidectomy. Before discharge home, otorhinolaryngologic inspection of the nasopharynx for secondary bleeding should be performed and anesthesiologic clearance obtained.
Topics: Child; Humans; Adenoids; Adenoidectomy; Otitis Media; Inflammation; Hypertrophy; Otitis Media with Effusion
PubMed: 37491540
DOI: 10.1007/s00106-023-01299-6 -
Taiwan Journal of Ophthalmology 2023Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of... (Review)
Review
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the respiratory, liver, spleen, central nervous systems, arteries, skeletons, eyes, joints, ears, skin, and/or teeth. The various types share some common ocular features that differ in terms of the severity of the affection. Visual loss in MPS patients is varied and can be due to corneal clouding, glaucoma, retinopathy, and optic neuropathy. The primary focus of this review is on changes in the cornea and anterior segment in MPS patients, including clinical and novel investigative modalities, current surgical management, effects of systemic therapy like hematopoietic stem cell transplants (HSCT)and enzyme replacement therapy (ERT), as well as significant research developments.
PubMed: 38249505
DOI: 10.4103/tjo.TJO-D-23-00137 -
Orphanet Journal of Rare Diseases Aug 2023Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish... (Review)
Review
Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosis. Gaucher disease is initially revealed by painful acute attacks mimicking joint pain described as "bone crises". Some IMD may induce microcrystalline arthropathy. Beyond classical gout, there are also gouts in connection with purine metabolism disorders known as "enzymopathic gouts". Pyrophosphate arthropathy can also be part of the clinical spectrum of Gitelman syndrome or hypophosphatasia. Oxalate crystals arthritis can reveal a primary hyperoxaluria. Destructive arthritis may be indicative of Wilson's disease. Non-destructive arthritis may be seen in mevalonate kinase deficiency and familial hypercholesterolemia.
Topics: Humans; Adult; Chondrocalcinosis; Gout; Joint Diseases; Metabolism, Inborn Errors; Hepatolenticular Degeneration
PubMed: 37563694
DOI: 10.1186/s13023-023-02810-6 -
International Journal of Molecular... Nov 2023Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase () encoding gene. GALNS leads to the... (Review)
Review
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase () encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients. For years, the MPS IVA pathogenesis and the assessment of promising drugs have been evaluated using in vitro (primarily fibroblasts) and in vivo (mainly mouse) models. Even though value information has been raised from those studies, these models have several limitations. For instance, chondrocytes have been well recognized as primary cells affected in MPS IVA and responsible for displaying bone development impairment in MPS IVA patients; nonetheless, only a few investigations have used those cells to evaluate basic and applied concepts. Likewise, current animal models are extensively represented by mice lacking GALNS expression; however, it is well known that MPS IVA mice do not recapitulate the skeletal dysplasia observed in humans, making some comparisons difficult. This manuscript reviews the current in vitro and in vivo MPS IVA models and their drawbacks.
Topics: Humans; Mice; Animals; Mucopolysaccharidosis IV; Keratan Sulfate; Chondroitin Sulfates; Chondrocytes; Disease Models, Animal; Chondroitinsulfatases
PubMed: 38003337
DOI: 10.3390/ijms242216148 -
Molecular Genetics and Metabolism May 2024Mucopolysaccharidoses are inherited metabolic diseases caused by mutations in genes encoding enzymes required for degradation of glycosaminoglycans. A lack or severe... (Review)
Review
Mucopolysaccharidoses are inherited metabolic diseases caused by mutations in genes encoding enzymes required for degradation of glycosaminoglycans. A lack or severe impairment of activity of these enzymes cause accumulation of GAGs which is the primary biochemical defect. Depending on the kind of the deficient enzyme, there are 12 types and subtypes of MPS distinguished. Despite the common primary metabolic deficit (inefficient GAG degradation), the course and symptoms of various MPS types can be different, though majority of the diseases from the group are characterized by severe symptoms and significantly shortened live span. Here, we analysed the frequency of specific, direct causes of death of patients with different MPS types, the subject which was not investigated comprehensively to date. We examined a total of 1317 cases of death among MPS patients, including 393 cases of MPS I, 418 cases of MPS II, 232 cases of MPS III, 45 cases of MPS IV, 208 cases of MPS VI, and 22 cases of MPS VII. Our analyses indicated that the most frequent causes of death differ significantly between MPS types, with cardiovascular and respiratory failures being predominant in MPS I, MPS II, and MPS VI, neurological deficits in MPS III, respiratory issues in MPS IV, and hydrops fetalis in MPS VII. Results of such studies suggest what specific clinical problems should be considered with the highest priority in specific MPS types, apart from attempts to correct the primary causes of the diseases, to improve the quality of life of patients and to prolong their lives.
PubMed: 38815294
DOI: 10.1016/j.ymgme.2024.108507