Galactosialidosis (GS, OMIM #256540) is a systemic autosomal recessive disorder that is due to a mutation in the cathepsin A (CTSA) gene. Its worldwide prevalence is rare, accounting for ~146 cases reported cases globally. In Bahrain alone, nine cases have been confirmed. This article aims to shed a light on the clinical spectrum and outcome of these nine patients who share the same novel genetic mutation. The article was written retrospectively based on the review of patients' medical records, which included clinical notes, biochemical, radiological, and genetic assessments. Analysis of the data from all nine patients revealed that the diagnosis was most commonly made at the early years of life. As expected from any systemic disorder, the disease affects multiple organ systems with musculoskeletal and the gastrointestinal system being most commonly involved. Short stature, skeletal deformities, coarse facial features, and different degrees of hepatomegaly are among initial presentations of the disease. Notably, one of the patients described in this article, developed severe form of cardiomyopathy and another one, presented with nonimmune hydrops fetalis, both of which considered rare occurrences in the context of GS. Genetically, all patients had the similar genetic mutation confirmed by laboratory tests. A few patients have had their diagnoses made based upon family history alone.
Hearing impairment affects over two-thirds of adults with diabetes. We investigated whether rat models of type 1 and type 11 diabetes display impaired auditory function. Tympanometry measurements were conducted in Sprague-Dawley rats (control, n = 20), streptozotocin-induced type I diabetic Sprague-Dawley rats (n = 20) at 42 -56 days old; Zucker rats (Hos: ZFDM-Lean (fa/+, n = 20) and Zucker Type 2 Diabetic rats (ZFDM (Hos: ZFDMfa/fa); n = 20)), 90 days old. All rats were male. Control animals had normal type A tympanograms. Tweny one (75%) of the tympanic membranes in the diabetic type I group produced abnormal tympanograms: 46% were type B, 28% had no peak found, and 1% were type C. The ear canal measurements were lower in the left ear in type I mice (0.19 ± 0.07) and higher in the left ear for type II mice (0.23 ± 0.15 ml) compared to the controls of 0.39 ± 0.14 ml) and (0.2 ± 0.12 ml) respectively (P < 0.0001). The compliances for the right ear and left ear were lower for the type II diabetic group (0.18 ± 0.05 ml) and (0.18 ± 0.05 ml) compared to the control group (0.28 ± 0.19 ml) and (0.28 ± 0.49 ml) (P < 0.0001) respectively. In conclusion, control rats exhibited type A tympanograms with a highly functional middle ear system. Diabetic type I rats (n = 20) mostly exhibited type B tympanograms with a less compliant middle ear system. Compliance was reduced in the diabetic type I and II animals compared to the control. Future studies should utilise histological methods alongside tympanometry. Sections of the middle ear could be used to analyze ossicle size and confirm size differences. This information would be useful in avenues for treatment options for hearing loss in diabetes.
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