Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
CONCLUSIONS: Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.PMID:37772538 | DOI:10.26444/aaem/163063 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - September 29, 2023 Category: Environmental Health Authors: Gabriela R ęka Katarzyna Wojciechowska Monika Lejman Source Type: research
Low dose oral minoxidil and the conundrum of cardiovascular complications
This article highlights potential clinical conundrums posed by these rare but severe cardiovascular complications and the importance of collaboration between cardiologists and dermatologists when employing this agent in... (Source: Dermatology Online Journal)
Source: Dermatology Online Journal - August 31, 2023 Category: Dermatology Authors: Ibraheim, Marina Kristy Source Type: research
Autism spectrum disorder and Coffin –Siris syndrome—Case report
ConclusionBoth autism and ARID1B-related disorders are on a spectrum. This report points out the importance and necessity of further research regarding the genetic backgrounds of these disorders to understand their complex etiology. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - August 24, 2023 Category: Psychiatry Source Type: research
The value of speckle tracking echocardiography in diagnosing minoxidil-induced cardiotoxicity: a case report
We present a case of a 50-year-old female patient who was orally consuming Minoxidil for medical reasons. She presented with severe hypotension, requiring vasoactive drugs, and evidence of myocardial injury was detected using speckle tracking echocardiography. It is worth noting that the patient did not have any coronary heart disease, and the myocardial injury was found to be associated with Minoxidil consumption. Remarkably, the patient showed signs of reversal 72 h after stopping the drug. To our knowledge, this is the first reported case of subendocardial injury associated with Minoxidil, using speckle tracking echoc...
Source: Journal of Ultrasound - August 11, 2023 Category: Radiology Source Type: research
H syndrome treated with Tocilizumab: two case reports and literature review
We report two different cases, one was diagnosed in adulthood and the other in childhood. The first case reported is a 37-year-old woman suffering from H syndrome with an autoinflammatory systemic disease that begins in adulthood (fever and diffuse organ’s infiltration) and with cutaneous, articular, auditory, and endocrinological manifestations since childhood. The second case reported is a 2-year-old girl with autoinflammatory, endocrine, and cutaneous symptoms (fever, lymphadenopathy, organomegaly, growth delay, and cutaneous hyperpigmentation). Homozygous mutations in SLC29A3 confirmed the diagnosis of H syndrome in ...
Source: Frontiers in Immunology - August 11, 2023 Category: Allergy & Immunology Source Type: research
The value of speckle tracking echocardiography in diagnosing minoxidil-induced cardiotoxicity: a case report
We present a case of a 50-year-old female patient who was orally consuming Minoxidil for medical reasons. She presented with severe hypotension, requiring vasoactive drugs, and evidence of myocardial injury was detected using speckle tracking echocardiography. It is worth noting that the patient did not have any coronary heart disease, and the myocardial injury was found to be associated with Minoxidil consumption. Remarkably, the patient showed signs of reversal 72 h after stopping the drug. To our knowledge, this is the first reported case of subendocardial injury associated with Minoxidil, using speckle tracking echoc...
Source: Journal of Ultrasound - August 11, 2023 Category: Radiology Source Type: research
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Clin Genet. 2023 Aug 9. doi: 10.1111/cge.14414. Online ahead of print.ABSTRACTPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 -year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin-Siris syndrome (CSS), characterised by growth restriction, mo...
Source: Clinical Genetics - August 9, 2023 Category: Genetics & Stem Cells Authors: Domizia Pasquetti Federica Francesca L'Erario Giuseppe Marangi Arianna Panfili Pietro Chiurazzi Elena Sonnini Daniela Orteschi Paolo Alfieri TUDP Study Group Manuela Morleo Vincenzo Nigro Marcella Zollino Source Type: research
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Clin Genet. 2023 Aug 9. doi: 10.1111/cge.14414. Online ahead of print.ABSTRACTPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 -year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin-Siris syndrome (CSS), characterised by growth restriction, mo...
Source: Clinical Genetics - August 9, 2023 Category: Genetics & Stem Cells Authors: Domizia Pasquetti Federica Francesca L'Erario Giuseppe Marangi Arianna Panfili Pietro Chiurazzi Elena Sonnini Daniela Orteschi Paolo Alfieri TUDP Study Group Manuela Morleo Vincenzo Nigro Marcella Zollino Source Type: research
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Clin Genet. 2023 Aug 9. doi: 10.1111/cge.14414. Online ahead of print.ABSTRACTPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 -year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin-Siris syndrome (CSS), characterised by growth restriction, mo...
Source: Clinical Genetics - August 9, 2023 Category: Genetics & Stem Cells Authors: Domizia Pasquetti Federica Francesca L'Erario Giuseppe Marangi Arianna Panfili Pietro Chiurazzi Elena Sonnini Daniela Orteschi Paolo Alfieri TUDP Study Group Manuela Morleo Vincenzo Nigro Marcella Zollino Source Type: research
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Clin Genet. 2023 Aug 9. doi: 10.1111/cge.14414. Online ahead of print.ABSTRACTPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 -year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin-Siris syndrome (CSS), characterised by growth restriction, mo...
Source: Clinical Genetics - August 9, 2023 Category: Genetics & Stem Cells Authors: Domizia Pasquetti Federica Francesca L'Erario Giuseppe Marangi Arianna Panfili Pietro Chiurazzi Elena Sonnini Daniela Orteschi Paolo Alfieri TUDP Study Group Manuela Morleo Vincenzo Nigro Marcella Zollino Source Type: research
A rare case of localized hypertrichosis in conjunction with erythema nodosum
Yeon Seok Lee, June Hyunkyung Lee, Tae Young Han, Jae Eun ChoiInternational Journal of Trichology 2023 15(2):74-76
Acquired hypertrichosis can occur in local inflammation. Erythema nodosum (EN) is a hypersensitivity reaction to various underlying antigenic stimuli including Mycobacterium tuberculosis, which causes inflammation in the septa of subcutaneous fat. There were several case reports that describe the association of localized hypertrichosis (LH) with traumatic panniculitis and lupus panniculitis. To our knowledge, this is the first reported case of acquired LH associated with EN. Thus, EN can be added to the list ...
Source: International Journal of Trichology - July 27, 2023 Category: Dermatology Authors: Yeon Seok Lee June Hyunkyung Lee Tae Young Han Jae Eun Choi Source Type: research
Laser and light therapy for pediatric hair removal: a systematic review
AbstractHair removal with lasers and intense pulsed light (IPL) is considered safe. However, data on the efficacy and safety of these procedures specifically in the pediatric population remain sparse. To determine the efficacy and safety of lasers and IPL for hair reduction in children and adolescents, a systematic review was conducted of original studies evaluating hair removal with lasers or IPL in patients aged less than 18 years. Primary outcome measures were efficacy and safety of treatment. The literature review yielded 2 retrospective cohort studies and 11 case reports/case series including a total of 71 patients ag...
Source: Lasers in Medical Science - July 4, 2023 Category: Laser Surgery Source Type: research
Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity
This study aimed to determine the impact of altered ABCA5 activity on hair follicle keratinocyte behaviour. Primary keratinocytes isolated from the outer root sheath of plucked human hair follicles were utilised as a relevant cell model. Following exogenous cholesterol loading, an increase in ABCA5 co-localisation to intracellular organelles was seen. Knockdown of ABCA5 revealed a dysregulation in cholesterol homeostasis, with LXR agonism leading to partial restoration of the homeostatic response. Filipin staining and live BODIPY cholesterol immunofluorescence microscopy revealed a reduction in endo-lysosomal cholesterol f...
Source: Biochimica et Biophysica Acta - June 22, 2023 Category: Biochemistry Authors: Megan A Palmer Irundika H K Dias Eleanor Smart Yvonne Benatzy Iain S Haslam Source Type: research
Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity
This study aimed to determine the impact of altered ABCA5 activity on hair follicle keratinocyte behaviour. Primary keratinocytes isolated from the outer root sheath of plucked human hair follicles were utilised as a relevant cell model. Following exogenous cholesterol loading, an increase in ABCA5 co-localisation to intracellular organelles was seen. Knockdown of ABCA5 revealed a dysregulation in cholesterol homeostasis, with LXR agonism leading to partial restoration of the homeostatic response. Filipin staining and live BODIPY cholesterol immunofluorescence microscopy revealed a reduction in endo-lysosomal cholesterol f...
Source: Mol Biol Cell - June 22, 2023 Category: Molecular Biology Authors: Megan A Palmer Irundika H K Dias Eleanor Smart Yvonne Benatzy Iain S Haslam Source Type: research
