scholarly journals Human Ring Chromosomes – New Insights for their Clinical Significance

2013 ◽  
Vol 16 (1) ◽  
pp. 13-19 ◽  
Author(s):  
R.S. Guilherme ◽  
E Klein ◽  
A.B. Hamid ◽  
S Bhatt ◽  
M Volleth ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Clinical Signs ◽  
Ring Chromosome ◽  
Signs And Symptoms ◽  
Molecular Techniques ◽  
Ring Chromosomes ◽  
Multicolor Banding ◽  
Clinical Signs And Symptoms ◽  
Clinical Problems

Abstract Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.

Molecular cytogenetic diagnostic algorithm for patients with a ring chromosome

2020 ◽  
pp. 28-29
Author(s):  
А.А. Кашеварова ◽  
И.Н. Лебедев
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Real Time Pcr ◽  
Array Comparative Genomic Hybridization ◽  
Ring Chromosome ◽  
Diagnostic Algorithm ◽  
Comparative Genomic ◽  
Molecular Cytogenetic ◽  
Ring Chromosomes

Для обследования пациентов с кольцевыми хромосомами разработан и апробирован алгоритм молекулярно-цитогенетической диагностики, включающий дополнительно к уже проведенному стандартному кариотипированию микрочиповое исследование (aCGH), ПЦР в реальном времени и флуоресцентную in situ гибридизацию (FISH). We developed and applied for patients with ring chromosomes an algorithm for molecular cytogenetic diagnostics which includes, in addition to the standard karyotyping, array comparative genomic hybridization (aCGH), real-time PCR, and fluorescence in situ hybridization (FISH).

scholarly journals Dementia and Major Neurocognitive Disorders: Some Lessons Learned One Century after the first Alois Alzheimer’s Clinical Notes

Geriatrics ◽  
2021 ◽  
Vol 6 (1) ◽  
pp. 5
Author(s):  
Donatella Rita Petretto ◽  
Gian Pietro Carrogu ◽  
Luca Gaviano ◽  
Lorenzo Pili ◽  
Roberto Pili
Keyword(s):  
Young Woman ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Neurocognitive Disorders ◽  
Lessons Learned ◽  
Alzheimer Dementia ◽  
Clinical Notes ◽  
Alois Alzheimer ◽  
Clinical Signs And Symptoms

Over 100 years ago, Alois Alzheimer presented the clinical signs and symptoms of what has been later called “Alzheimer Dementia” in a young woman whose name was Augustine Deter [...]

scholarly journals Correction to: Levoketoconazole improves clinical signs and symptoms and patient-reported outcomes in patients with Cushing’s syndrome

Pituitary ◽  
2020 ◽  
Author(s):  
Eliza B. Geer ◽  
Roberto Salvatori ◽  
Atanaska Elenkova ◽  
Maria Fleseriu ◽  
Rosario Pivonello ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Patient Reported Outcomes ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Cushing's Syndrome ◽  
Original Version ◽  
Patient Reported ◽  
Author Group ◽  
Clinical Signs And Symptoms

The original version of the article unfortunately contained an error in the first name and the surname of one of the authors in the author group. The last author name was incorrectly published as ‘F. Pecori Giraldi’ and the corrected name is ‘Francesca Pecori Giraldi’ (First name: Francesca; Surname: Pecori Giraldi).

scholarly journals A 38-year demographic study of central and peripheral giant cell granulomas of the jaws

2016 ◽  
Vol 15 (2) ◽  
pp. 220-223 ◽  
Author(s):  
Shadi Saghafi ◽  
Reza Zare-Mahmoodabadi ◽  
Narges Ghazi ◽  
Mohammad Zargari
Keyword(s):  
Giant Cell ◽  
Medical Science ◽  
Age Distribution ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Posterior Maxilla ◽  
Frequent Site ◽  
Male Patients ◽  
Clinical Signs And Symptoms ◽  
Anterior Mandible

Objective: The purpose of this study was to retrospectively analyze the demographic characteristics of patients with central giant cell granulomas (CGCGs) and peripheral giant cell granulomas (PGCGs) in Iranian population.Methods: The data were obtained from records of 1019 patients with CGCG and PGCG of the jaws referred to our department between 1972 and 2010. This 38-year retrospective study was based on existing data. Information regarding age distribution, gender, location of the lesion and clinical signs and symptoms was documented. Results: A total of 1019 patients were affected GCGLs including 435 CGCGs and 584 PGCGs during the study. The mean age was 28.91 ± 18.16. PGCGs and CGCGs had a peak of occurrence in the first and second decade of life respectively. A female predominance was shown in CGCG cases (57.70%), whereas PGCGs were more frequent in males (50.85%). Five hundred and ninety-eight cases of all giant cell lesions (58.7 %) occurred in the mandible. Posterior mandible was the most frequent site for both CGCG and PGCG cases. The second most common site for PGCG was posterior maxilla (21%), whereas anterior mandible was involved in CGCG (19.45%). The majority of patients were asymptomatic. Conclusions: In contrast to most of previous studies PGCGs occur more common in the first decade and also more frequently in male patients. Although the CGCGs share some histopathologic similarities with PGCGs, differences in demographic features may be observed in different populations which may help in the diagnosis and management of these lesions.Bangladesh Journal of Medical Science Vol.15(2) 2016 p.220-223

Neuro-Ophthalmology. Clinical Signs and Symptoms,

1999 ◽  
Vol 19 (2) ◽  
pp. 109
Author(s):  
Anthony C. Arnold
Keyword(s):  
Clinical Signs ◽  
Signs And Symptoms ◽  
Clinical Signs And Symptoms

Evaluation of radiographs, clinical signs and symptoms associated with pulp canal obliteration: an aid to treatment decision

2009 ◽  
Vol 25 (6) ◽  
pp. 620-625 ◽  
Author(s):  
Adeleke O. Oginni ◽  
Comfort A. Adekoya-Sofowora ◽  
Kikelomo A. Kolawole
Keyword(s):  
Clinical Signs ◽  
Treatment Decision ◽  
Signs And Symptoms ◽  
Clinical Signs And Symptoms

scholarly journals Is Bisphosphonate-Related Osteonecrosis of the Jaw an Infection? A Histological and Microbiological Ten-Year Summary

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
A. M. Hinson ◽  
C. W. Smith ◽  
E. R. Siegel ◽  
B. C. Stack
Keyword(s):  
Systematic Review ◽  
Disease Severity ◽  
Large Scale ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Osteonecrosis Of The Jaw ◽  
Multifactorial Disease ◽  
Clinical Signs And Symptoms ◽  
Surgical Treatments

The role of infection in the etiology of bisphosphonate-related osteonecrosis of the jaw (BRONJ) is poorly understood. Large-scale epidemiological descriptions of the histology and microbiology of BRONJ are not found in the literature. Herein, we present a systematic review of BRONJ histology and microbiology (including demographics, immunocompromised associations, clinical signs and symptoms, disease severity, antibiotic and surgical treatments, and recovery status) validating that infection should still be considered a prime component in the multifactorial disease.

Phasic jaw motor episodes in healthy subjects with or without clinical signs and symptoms of sleep bruxism: a pilot study

2013 ◽  
Vol 18 (1) ◽  
pp. 187-193 ◽  
Author(s):  
Shuichiro Yoshizawa ◽  
Takeshi Suganuma ◽  
Masayuki Takaba ◽  
Yasuhiro Ono ◽  
Takuro Sakai ◽  
...  
Keyword(s):  
Pilot Study ◽  
Healthy Subjects ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Sleep Bruxism ◽  
Clinical Signs And Symptoms
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