by Shoshana H. Bardach  , Christina Moore  , Sarah Holmes  , Richard R. Murphy  , Allison Gibson  and Gregory A. Jicha

Received: 15 June 2018;  Published: 26 July 2018;  doi: 10.21926/obm.geriatr.1803006

Background: Given the stigma and fear associated with Alzheimer’s disease (AD), many presume the diagnosis of AD or mild cognitive impairment (MCI) to be a negative experience. Aims: To assess the psychological impact of a diagnosis of MCI or early dementia on positive well-being. Methods: Individuals with a diagnosis of MCI or AD were mailed surveys with the Silver-Lining Questionnaire. Results: Completed surveys were returned from 38 individuals and were analyzed in relation to demographic and cognitive data. All [...]

by Florence Durand  , Noomane Bouaziz  , Sonia Braha-Zeitoun  , Clémence Isaac  , Palmyre Schenin-King Andrian  and Dominique Januel

Received: 12 March 2018;  Published: 11 June 2018;  doi: 10.21926/obm.geriatr.1802005

Background: Mild Cognitive Impairment [MCI] is a transition stage between normal aging and dementia. It seems to be useful to treat MCI before the onset of early dementia, though no pharmacological treatment is recommended [1]. These case studies aimed to assess the efficacy of long-term repetitive Transcranial Magnetic Stimulation [rTMS] treatment on cognition, and clinical changes, in elderly MCI patients. Methods: Three patients with MCI were treated by rTMS with different parameters of stimulation, targeting t [...]

by Michael Fossel

Received: 20 March 2018;  Published: 28 March 2018;  doi: 10.21926/obm.geriatr.1801004

All of us are intuitively aware, and many of us explicitly aware as well, of the meaning of geriatrics as a specialty. After all, most of us practice geriatrics or we have been intimately involved with this area and we are know the reality of geriatrics. Or do we? Geriatrics is an oddly ill-defined specialty when you look at it more carefully. Some of us practice medicine, some of us practice in the social sciences, and many of us simply do our jobs day-to-day and try to get by. What we share, however, is the heart [...]

by Michael Fossel

Received: 12 December 2017;  Published: 24 December 2017;  doi: 10.21926/obm.geriatr.1704003

by Giacinto Libertini

Received: 19 February 2017;  Published: 13 April 2017;  doi: 10.21926/obm.geriatr.1702002

Nowadays, geriatrics is mainly the treatment by palliative methods of the disorders that characterize senile decay. This is perfectly compatible with the prevailing view that aging is the inevitable result of multiple degenerative processes that can only partially be treated as they are in themselves inevitable and irreversible. This interpretation of aging clashes with a mass of data and arguments that, conversely, indicate aging as a specific physiological function, favoured by supra-individual natural selection [...]

by Michael Fossel

Received: 11 December 2016;  Published: 06 January 2017;  doi: 10.21926/obm.geriatr.1701001

Geriatrics, and much of clinical medicine, is on the verge of a profound transformational shift. Until now, there has been a sharp conceptual divide between diseases which can be readily and effectively treated, and diseases which we have thought to be beyond clinical intervention. In the first disease category, are many of the most common infections that respond to antibiotics and immunizations. We have made dramatic changes in the demographics and the mortality of many such treatable diseases. At the other extrem [...]

by Nydia Rena Benita Sihombing  , Nani Maharani  , Agustini Utari  and Tri Indah Winarni

Received: 29 November 2024;  Published: 05 February 2025;  doi: 10.21926/obm.genet.2501284

Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 intragenic deletion, including intellectu [...]

by Smaili Fatimazahra  , Zerrouki Khawla  , Aouni Fatima Ezzahra  , Ghanam Ayad  , Rkain Maria  , Babakhouya Abddeladim  and Tajir Mariam

Received: 04 October 2024;  Published: 04 February 2025;  doi: 10.21926/obm.genet.2501283

Dystrophinopathies are genetic muscular disorders with recessive inheritance linked to the X chromosome due to mutations in the dystrophin gene, the DMD gene located in Xp21. The best-known forms are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our study aims to determine the molecular profile and genotype/phenotype correlations of dystrophinopathies in the eastern region of Morocco. We report patients referred for 4 years (2020-2023) to the Medical Genetics Laboratory of the Mohammed VI U [...]

by Hicham Bouchahta  , Zhour EL Amrani  , Siham Chafai Elalaoui  , Fatima Ouboukss  , Aziza Sbiti  , Laila Sbabou  , Thomas Liehr  , Abdelaziz Sefiani  and Abdelhafid Natiq

Received: 14 October 2024;  Published: 27 January 2025;  doi: 10.21926/obm.genet.2501282

Cat-eye syndrome (CES) is a rare genetic disease first reported in 1965. The estimated prevalence of CES is 1:50,000 to 1:150,000, and it is typically associated with an inverted duplicated small supernumerary marker chromosome (sSMC) derived from chromosome 22. The specific chromosomal band involved in CES causing partial tetrasomy is 22q11.21, where chromosomal rearrangements occur due to the presence of low-copy repeats (LCR22). The phenotype of CES is extremely diverse, ranging from normal to multiple abnormali [...]

by Hanny Tanasal  , Iline Michaela  and Retno Danarti

Received: 28 October 2024;  Published: 08 January 2025;  doi: 10.21926/obm.genet.2501281

Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales covers the entire body. Affected newborns have abnormal facial features, such as ectropion, eclabium, and ears and nose flattening. Although HI was formerly assumed to be fatal, more intensive neonatal care and early retinoid therapy may imp [...]