scholarly journals Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Catarina Silvestre ◽  
Juliette Dupont ◽  
Rosário Silveira Santos ◽  
Brígida Robalo ◽  
Carla Pereira ◽  
...  
Keyword(s):  
Short Stature ◽  
Chromosomal Abnormalities ◽  
Phenotypic Variability ◽  
Delayed Puberty ◽  
Paediatric Endocrinology ◽  
Wide Range ◽  
Normal Males ◽  
Sex Orientation ◽  
Careful Investigation

Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic. After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism. This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests. There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable.

Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Sarar Mohamed ◽  
Edna F. Roche ◽  
Hilary M.C.V. Hoey
Keyword(s):  
Turner Syndrome ◽  
Clinical Presentation ◽  
Chromosomal Abnormalities ◽  
Ring Chromosome ◽  
Delayed Puberty ◽  
Single Centre ◽  
Important Indicator ◽  
Single Centre Experience ◽  
Wide Range ◽  
Chromosome Material

AbstractAge at diagnosis of girls with Turner syndrome (TS) is an important indicator of successful management. We determined the age, initial clinical presentation, and chromosomal abnormalities in patients with TS.This was a retrospective evaluation of the clinical and laboratory records of patients with TS.Sixty-five patients with TS were identified; 40 (62%) were diagnosed after age 5 years. The main presenting features were short stature, delayed puberty, dysmorphic features, and neonatal lymphoedema. Chromosomal analysis of this cohort showed that 31 patients demonstrated mosaicism, while a 45,X karyotype was observed in 19. The remaining patients had variable abnormalities including deletion, translocation, isochromosome, and ring chromosome. Y-chromosome material was found in four cases.Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.

Formation and composition of training flax collection

2020 ◽  
pp. 61-71
Author(s):  
L.M. Kryvosheieva ◽  
V.I. Chuchvaha ◽  
N.M. Kandyba
Keyword(s):  
Plant Breeding ◽  
Gene Pool ◽  
Phenotypic Variability ◽  
Plant Genetic Resources ◽  
Field Measurements ◽  
Educational Process ◽  
Educational Institutions ◽  
Economic Traits ◽  
Wide Range ◽  
History Of

Aim. Based on the results of multi-year research into the flax gene pool, to form a flax training collection to provide breeding scientific organizations and educational institutions with collection samples as well as with information about the bast crop gene pool. Results and Discussion. The studies were conducted in the crop rotation fields for breeding and seed production of the Institute of Bast Crops of the NAAS (Hlukhiv, Sumska Oblast) in 1992-2018. The field measurements and laboratory analyses were carried out in accordance with conventional methods of field and laboratory studies of collection flax samples.The article presents the results on the formation of a training collection of flax at the Institute of Bast Crops of the NAAS, which has 117 accessions (11 botanical species and three varieties) from 22 countries. In addition to species diversity, the collection includes accessions with different levels of expression of valuable economic and biological characteristics. It also includes accessions selected by phenotypic variability of individual characters or their combinations. The multi-year research into the flax collection accessions resulted in identification of sources of highly-expressed valuable economic traits, which are of interest for the plant breeding course. The history of flax breeding in Ukraine is shown, where breeding varieties that are most widespread or were significant breeding achievements in solving certain problems, are presented. The collection can be used as a visual aid for the plant breeding course in educational programs; in addition, it can provide starting material for scientific and educational institutions. The collection is registered with the National Center for Plant Genetic Resources of Ukraine (certificate No. 00273 dated 04/11/2019). Conclusions. The studies of accessions from the national flax collection allowed us to build up a training collection and register it with the NCPGRU. The collection represents a wide range of biological and economic features of the gene pool of this crop. The collection can be used in the educational process of educational agricultural and biological institutions. The multi-year research into the national flax collection resulted in identification of sources of highly-expressed valuable economic traits, which are of interest to the plant breeding course. The history of flax breeding in Ukraine got covered, and breeding varieties that are most widespread or were significant breeding achievements in solving certain problems are presented.

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

2018 ◽  
Vol 16 (05) ◽  
pp. 362-368 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Stefano Catanzaro ◽  
Selene Mantegna ◽  
Francesco Lacarrubba ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Number Of Patients ◽  
Wide Range ◽  
Visual Problems ◽  
Neurodevelopmental Abnormalities ◽  
Clinical Triad ◽  
High Degree ◽  
Motor Handicap

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

scholarly journals Zebrafish Models to Study New Pathways in Tauopathies

2021 ◽  
Vol 22 (9) ◽  
pp. 4626
Author(s):  
Clément Barbereau ◽  
Nicolas Cubedo ◽  
Tangui Maurice ◽  
Mireille Rossel
Keyword(s):  
Cognitive Deficits ◽  
Tau Protein ◽  
Common Point ◽  
Transgenic Models ◽  
Synaptic Loss ◽  
Wide Range ◽  
Transgenic Lines ◽  
Functional Consequences ◽  
The Common

Tauopathies represent a vast family of neurodegenerative diseases, the most well-known of which is Alzheimer’s disease. The symptoms observed in patients include cognitive deficits and locomotor problems and can lead ultimately to dementia. The common point found in all these pathologies is the accumulation in neural and/or glial cells of abnormal forms of Tau protein, leading to its aggregation and neurofibrillary tangles. Zebrafish transgenic models have been generated with different overexpression strategies of human Tau protein. These transgenic lines have made it possible to highlight Tau interacting factors or factors which may limit the neurotoxicity induced by mutations and hyperphosphorylation of the Tau protein in neurons. Several studies have tested neuroprotective pharmacological approaches. On few-days-old larvae, modulation of various signaling or degradation pathways reversed the deleterious effects of Tau mutations, mainly hTauP301L and hTauA152T. Live imaging and live tracking techniques as well as behavioral follow-up enable the analysis of the wide range of Tau-related phenotypes from synaptic loss to cognitive functional consequences.

scholarly journals The Use of Anterior-Segment Optical-Coherence Tomography for the Assessment of the Iridocorneal Angle and Its Alterations: Update and Current Evidence

2021 ◽  
Vol 10 (2) ◽  
pp. 231
Author(s):  
Giacinto Triolo ◽  
Piero Barboni ◽  
Giacomo Savini ◽  
Francesco De Gaetano ◽  
Gaspare Monaco ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Intraocular Pressure ◽  
Clinical Relevance ◽  
Anterior Segment ◽  
Angle Closure ◽  
Current Evidence ◽  
Optical Coherence ◽  
Iridocorneal Angle ◽  
Wide Range

The introduction of anterior-segment optical-coherence tomography (AS-OCT) has led to improved assessments of the anatomy of the iridocorneal-angle and diagnoses of several mechanisms of angle closure which often result in raised intraocular pressure (IOP). Continuous advancements in AS-OCT technology and software, along with an extensive research in the field, have resulted in a wide range of possible parameters that may be used to diagnose and follow up on patients with this spectrum of diseases. However, the clinical relevance of such variables needs to be explored thoroughly. The aim of the present review is to summarize the current evidence supporting the use of AS-OCT for the diagnosis and follow-up of several iridocorneal-angle and anterior-chamber alterations, focusing on the advantages and downsides of this technology.

scholarly journals Cortical Excitability across the ALS Clinical Motor Phenotypes

2021 ◽  
Vol 11 (6) ◽  
pp. 715
Author(s):  
Thanuja Dharmadasa
Keyword(s):  
Motor Cortex ◽  
Cortical Excitability ◽  
Phenotypic Variability ◽  
Specific Treatment ◽  
Underlying Disease ◽  
Selective Vulnerability ◽  
Clinical Feature ◽  
Cortical Hyperexcitability ◽  
Wide Range

Amyotrophic lateral sclerosis (ALS) is characterized by its marked clinical heterogeneity. Although the coexistence of upper and lower motor neuron signs is a common clinical feature for most patients, there is a wide range of atypical motor presentations and clinical trajectories, implying a heterogeneity of underlying pathogenic mechanisms. Corticomotoneuronal dysfunction is increasingly postulated as the harbinger of clinical disease, and neurophysiological exploration of the motor cortex in vivo using transcranial magnetic stimulation (TMS) has suggested that motor cortical hyperexcitability may be a critical pathogenic factor linked to clinical features and survival. Region-specific selective vulnerability at the level of the motor cortex may drive the observed differences of clinical presentation across the ALS motor phenotypes, and thus, further understanding of phenotypic variability in relation to cortical dysfunction may serve as an important guide to underlying disease mechanisms. This review article analyses the cortical excitability profiles across the clinical motor phenotypes, as assessed using TMS, and explores this relationship to clinical patterns and survival. This understanding will remain essential to unravelling central disease pathophysiology and for the development of specific treatment targets across the ALS clinical motor phenotypes.

scholarly journals Clinical and Forensic Aspects of the Different Subtypes of Argyria

2021 ◽  
Vol 10 (10) ◽  
pp. 2086
Author(s):  
Luís Mota ◽  
Ricardo Jorge Dinis-Oliveira
Keyword(s):  
Systemic Absorption ◽  
Histopathological Analysis ◽  
Wide Range ◽  
Silver Deposits ◽  
Specific Tissue ◽  
Eye Lesions ◽  
Dark Blue ◽  
Typical Skin ◽  
Viable Treatment

Argyria encompasses the different cosmetic alterations that can develop if enough silver particles deposit in a specific tissue, typically in the skin, ranging from localized dark-blue macules to a generalized slate-gray/bluish tinge following systemic absorption. This work aims to fully review the state of the art regarding pathophysiology, diagnosis, treatment, and relevant clinical and forensic features of argyria. Argyria has been diagnosed in a wide range of ages, both sexes and varied ethnicities, with no known individual predisposing factors. Ultraviolet radiation with subsequence increases of melanin production aggravates the discoloration due to a reduction in the silver deposits. Physical examination and silver exposure in the anamnesis can be highly suggestive of the diagnosis, but a histopathological analysis with Energy-Dispersive X-ray Spectroscopy is required to unequivocally determine the discoloration etiology. Safe and effective treatment has only been accomplished with laser techniques, though only a few cases have been reported and with limited follow-up time. In conclusion, argyria typically has an occupational or iatrogenic etiology. It should be suspected when a patient presents with typical skin or eye lesions. A seemingly viable treatment modality, with laser technology, is finally within the horizon.

Short stature and delayed puberty in gymnasts: Influence of selection bias on leg length and the duration of training on trunk length

2000 ◽  
Vol 136 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Shona Bass ◽  
Michelle Bradney ◽  
Georgina Pearce ◽  
Elke Hendrich ◽  
Karen Inge ◽  
...  
Keyword(s):  
Short Stature ◽  
Selection Bias ◽  
Delayed Puberty ◽  
Leg Length ◽  
Trunk Length

scholarly journals Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

2009 ◽  
Vol 161 (1) ◽  
pp. 179-187 ◽  
Author(s):  
Anne Bachelot ◽  
Agnès Rouxel ◽  
Nathalie Massin ◽  
Jérome Dulon ◽  
Carine Courtillot ◽  
...  
Keyword(s):  
Premature Ovarian Failure ◽  
Chromosomal Abnormalities ◽  
Phenotypic Variability ◽  
Genetic Data ◽  
Ovarian Failure ◽  
Mineral Density ◽  
Genetic Studies ◽  
Autoimmune Polyendocrine Syndrome ◽  
Design And Methods

ObjectivePremature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis.Design and methodsWe performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center.ResultsSeventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1.ConclusionA genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.

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