scholarly journals Cuban Adolescents Requesting Presymptomatic Testing for Spinocerebellar Ataxia Type 2

ISRN Genetics ◽  
2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Tania Cruz-Mariño ◽  
Luis Velázquez-Pérez ◽  
Yanetza González-Zaldivar ◽  
Raúl Aguilera-Rodríguez ◽  
Miguel Velázquez-Santos ◽  
...  
Keyword(s):  
Medical Records ◽  
Psychological Impact ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Settings ◽  
Test Results ◽  
Spinocerebellar Ataxia Type 2 ◽  
Presymptomatic Testing ◽  
The Mean

Since 2001 a program for the presymptomatic testing of families affected with SCA2 has been under development in Cuba. According to the initial protocol, access would be given to nonsymptomatic individuals at 50% risk, over 18 years; nevertheless, eleven minors requested their inclusion in the program. A retrospective and descriptive study based on the analysis of the medical records belonging to these individuals was designed. Being aware of how challenging clinical settings of predictive genetic testing for minors are, this paper reviews their profile, the outcome of the carried out studies, as well as the reproductive option chosen by the gene positive consultands. The mean age at the time of testing was 16.2 years. Nine adolescents completed the protocol (three had positive test results) and two withdrew. They had a distinctive profile; all were females, pregnant, motivated by the risk assessment for their descendants, and interested in PND with termination of the gestation were the fetus a carrier. Nevertheless, once the result of the test is known, the gene positive consultands chose discordant reproductive options. Further research is necessary to assess the long-term psychological impact in both gene positive and gene negative participants, as well as in their parents and at-risk relatives.

Long-Term Suppression of Disabling Tremor by Thalamic Stimulation in a Patient with Spinocerebellar Ataxia Type 2

2019 ◽  
Vol 97 (4) ◽  
pp. 241-243 ◽  
Author(s):  
Takashi Isobe ◽  
Hiromasa Sato ◽  
Tetsuya Goto ◽  
Takehiro Yako ◽  
Kunihiro Yoshida ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Thalamic Stimulation

scholarly journals Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

2016 ◽  
Vol 16 (1) ◽  
pp. 180-183 ◽  
Author(s):  
Adele G. Marthaler ◽  
Benjamin Schmid ◽  
Alisa Tubsuwan ◽  
Ulla B. Poulsen ◽  
Alexander F. Engelbrecht ◽  
...  
Keyword(s):  
Cell Line ◽  
Spinocerebellar Ataxia ◽  
Control Cell ◽  
Spinocerebellar Ataxia Type ◽  
Ipsc Line ◽  
Spinocerebellar Ataxia Type 2 ◽  
Control Cell Line

Clinical features, treatment, and outcome of dogs with Coccidioides osteomyelitis

2022 ◽  
pp. 1-8
Author(s):  
Stephanie L. Shaver ◽  
Daniel S. Foy ◽  
Todd D. Carter
Keyword(s):  
Electronic Medical Records ◽  
Medical Records ◽  
Clinical Signs ◽  
Test Results ◽  
Serologic Test ◽  
Rapid Improvement ◽  
Radiographic Appearance ◽  
One Year ◽  
Positive Results

Abstract OBJECTIVE To describe signalment, clinical signs, serologic test results, treatment, and outcome of dogs with Coccidioides osteomyelitis (COM) and to compare those findings with findings for dogs with osteosarcoma (OSA). ANIMALS 14 dogs with COM and 16 dogs with OSA. PROCEDURES Data were retrospectively gathered from electronic medical records. RESULTS Dogs with COM were younger and weighed less than dogs with OSA. Six dogs with COM had appendicular lesions, 5 had axial lesions, and 3 had both appendicular and axial lesions; 9 had monostotic disease, and 5 had polyostotic disease. Axial lesions and nonadjacent polyostotic disease were more common in dogs with COM than in dogs with OSA, but radiographic appearance was not different between the 2 groups. Median IgG titer at diagnosis of COM was 1:48 and was significantly decreased after 6 and 12 months of treatment. Percentage of dogs with COM that had clinical signs was significantly decreased after 1, 3, 6, and 12 months of treatment. One year after initiation of treatment, 9 of 9 dogs were still receiving fluconazole and 8 of 9 dogs had positive results for serum IgG titer testing. CLINICAL RELEVANCE Dogs with COM typically had a rapid improvement in clinical signs after initiating treatment with fluconazole but required long-term antifungal treatment. Dogs with COM differed from dogs with OSA, but radiographic features had a great degree of overlap between groups, confounding the ability to make a diagnosis on the basis of diagnostic imaging alone.

Spinocerebellar Ataxia Type 2 in a Turkish Family

2007 ◽  
Vol 22 (7) ◽  
pp. 891-894 ◽  
Author(s):  
Eray Dirik ◽  
Uluc Yis ◽  
Nazli Basak ◽  
Esra Soydan ◽  
Orkide Hüdaoğlu ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Turkish Family

Normal SCA2 alleles influences age at onset of spinocerebellar ataxia type 2 in Cuban patients

2008 ◽  
Vol 119 ◽  
pp. S173
Author(s):  
L.E. Almaguer Mederos ◽  
N. Falcón ◽  
Y. Almira ◽  
Y. Zaldivar ◽  
D. Almarales ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2

scholarly journals A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
José Sánchez-Corona ◽  
Sergio Alberto Ramirez-Garcia ◽  
Gema Castañeda-Cisneros ◽  
Susan Andrea Gutiérrez-Rubio ◽  
Víctor Volpini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Report ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Mexican Child

scholarly journals Plasmatic Magnesium Deficiency in 101 Outpatients Living with Type 2 Diabetes Mellitus

2021 ◽  
Vol 11 (4) ◽  
pp. 791-800
Author(s):  
Hajer Zahra ◽  
Olfa Berriche ◽  
Ramla Mizouri ◽  
Fatma Boukhayatia ◽  
Marwa Khiari ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Glycemic Control ◽  
Magnesium Deficiency ◽  
Magnesium Level ◽  
Peripheral Artery ◽  
The Mean ◽  
Magnesium Status ◽  
Artery Disease

(1) Background: Magnesium deficiency is usually associated with type 2 diabetes mellitus (T2DM). Individuals living with T2DM with hypomagnesemia show a more rapid disease progression and have an increased risk for diabetes complications. (2) Methods: This is a cross-sectional and descriptive study in the National Institute of Nutrition and Food Technology of Tunis in Tunisia, including all adult outpatients (≥18 years old) with a diagnosis of T2DM from 1 September 2018 to 31 August 2019. The aim of this study was to evaluate the prevalence of plasmatic magnesium deficiency in a Tunisian population of T2DM and to study the relationship between magnesium status and intake, glycemic control and long-term diabetes-related complications. (3) Results: Among the 101 T2DM outpatients, 13 (12.9%) presented with a plasmatic magnesium deficiency. The mean age was 56 ± 7.9 years with a female predominance (62%, n = 63). The mean of the plasmatic magnesium level was 0.79 ± 0.11 mmol/L (0.5–1.1), and the mean of 24 h urinary magnesium excretion was 87.8 ± 53.8 mg/24 h [4.8–486.2]. HbA1c was significantly higher in the plasmatic magnesium deficiency group than the normal magnesium status group (10% ± 1.3 vs. 8.3% ± 1.9; p = 0.04), with a significant difference in participants with a poor glycemic control (HbA1c > 7%) (100%, n = 13/13 vs. 53%, n = 47/88; p = 0.001). A weak negative relationship was also found between plasmatic magnesium and HbA1c (r = −0.2, p = 0.03). Peripheral artery disease was more commonly described in individuals with low plasmatic magnesium levels than in individuals with normal levels (39%, n = 5 vs. 0%, n = 0; p < 0.001). The mean plasmatic magnesium level in participants without diabetic nephropathy and also peripheral artery disease was significantly higher compared to individuals with each long-term diabetes-related complication (0.8 mmol/L ± 0.1 vs. 0.71 mmol/L ± 0.07; p = 0.006) and (0.8 mmol/L ± 0.1 vs. 0.6 mmol/L ± 0.08; p < 0.001), respectively. (4) Conclusions: Hypomagnesemia was identified in individuals with T2DM, causing poor glycemic control and contributing to the development and progression of diabetes-related microvascular and macrovascular complications.

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