Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review
In conclusion it is important to educate general practitioners and pediatricians to check the serum calcium levels in patients presenting with nonspecific, muscular signs and symptoms.PMID:38282495 | PMC:PMC10826693 | DOI:10.5114/pedm.2023.132030 (Source: Pediatric Endocrinology, Diabetes, and Metabolism)
Source: Pediatric Endocrinology, Diabetes, and Metabolism - January 29, 2024 Category: Endocrinology Authors: Aleksandra Janina Wylaz łowska Ma łgorzata Grabarczyk Marta Gorczyca Pawe ł Matusik Source Type: research
Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma
This study suggests that genetic testing is essential for a definitive diagnosis, which should better assist physicians in prediction, diagnosis, genetic counseling, and guidance for Xp21 DNA microdeletion syndrome. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 26, 2024 Category: Genetics & Stem Cells Source Type: research
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
AbstractSyndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay, dysmorphic features, and congenital malformations.Purpose of ReviewTo present a narrative review regarding the genetic etiology, clinical description, and molecular diagnosis of syndromic obesity, which is a rare condition with high phenotypic variability and genetic heterogeneity. The following syndromes are presented in this review: Prader-Willi, Bardet-Biedl, Pseudohypoparathyroidism, Alstr öm, Smith-Magenis, Cohen, Temple, 1p36 deletion, 16p11.2 microdeletion, Kleefstra,SIM1-rel...
Source: Current Obesity Reports - January 26, 2024 Category: Eating Disorders & Weight Management Source Type: research
Y chromosome polymorphisms contribute to an increased risk of non-obstructive azoospermia: a retrospective study of 32,055 Chinese men
ConclusionsPatients with 46,XYqh- variant have a higher incidence of NOA and AZF microdeletions than patients with normal karyotype and other Y chromosome polymorphic variants. Y chromosome polymorphic variants do not affect female adverse pregnancy outcomes. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - January 25, 2024 Category: Reproduction Medicine Source Type: research
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 22, 2024 Category: Allergy & Immunology Source Type: research
Clinical value of positive CNVs results by NIPT without fetal ultrasonography ‐identified structural anomalies
ConclusionsEven in pregnancies without ultrasonography-identified anomalies, a positive NIPT screen for CNVs must be interpreted with caution and validated by additional diagnostic study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Changhong Wang,
Li Mei,
Yang Wan,
Hong Li,
Shanshan Luan,
Jali Lu,
Pei Wang,
Liu Wen,
Xue Han,
Xiaona Li,
Ningzhi Zhang Tags: CLINICAL REPORT Source Type: research
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
ConclusionsAIC in pDGS is often refractory to conventional AIC treatment paradigms. Biomarkers may have utility for correlation with disease state and potentially even response to therapy. Immunomodulating therapies could be initiated early based on early immune phenotyping and biomarkers before the disease develops or significantly worsens. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 17, 2024 Category: Allergy & Immunology Source Type: research
Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry
J Autism Dev Disord. 2024 Jan 12. doi: 10.1007/s10803-023-06218-w. Online ahead of print.ABSTRACT3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior Checklist (CBCL/ABCL) via the online 3q29 registry (3q29deletion.org). Typically developing controls (n = 57, 49.12% male) were ascertained as a comparison group. We analyzed mean perform...
Source: Journal of Autism and Developmental Disorders - January 12, 2024 Category: Psychiatry Authors: Rebecca M Pollak Michael Mortillo Melissa M Murphy Jennifer G Mulle Source Type: research
Rare copy-number variants as modulators of common disease susceptibility
ConclusionsOur results shed light on the prominent role of rare CNVs in determining common disease susceptibility within the general population and provide actionable insights for anticipating later-onset comorbidities in carriers of recurrent CNVs. (Source: Genome Medicine)
Source: Genome Medicine - January 8, 2024 Category: Genetics & Stem Cells Source Type: research
N6-methyladenosine-induced miR-182-5p promotes multiple myeloma tumorigenesis by regulating CAMK2N1
Mol Cell Biochem. 2024 Jan 5. doi: 10.1007/s11010-023-04906-w. Online ahead of print.ABSTRACTMethyltransferase like 3 (METTL3) has been reported to promote tumorigenesis of multiple myeloma (MM), however, the molecular mechanism still needs further research. The N6-methyladenosine (m6A) level in tissues or cells was measured by m6A kit and dot blot assay. The mRNA and protein expression were detected by quantitative real-time PCR (RT-qPCR) and Western blot, respectively. The cell counting kit-8 and colony formation assay were used to detect the cell proliferation. Coimmunoprecipitation (Co-IP) experiment verified the bindi...
Source: Molecular and Cellular Biochemistry - January 5, 2024 Category: Biochemistry Authors: Jing Bao Tingting Xu Wanjie Wang Han Xu Xiaowen Chen Ruixiang Xia Source Type: research
N6-methyladenosine-induced miR-182-5p promotes multiple myeloma tumorigenesis by regulating CAMK2N1
Mol Cell Biochem. 2024 Jan 5. doi: 10.1007/s11010-023-04906-w. Online ahead of print.ABSTRACTMethyltransferase like 3 (METTL3) has been reported to promote tumorigenesis of multiple myeloma (MM), however, the molecular mechanism still needs further research. The N6-methyladenosine (m6A) level in tissues or cells was measured by m6A kit and dot blot assay. The mRNA and protein expression were detected by quantitative real-time PCR (RT-qPCR) and Western blot, respectively. The cell counting kit-8 and colony formation assay were used to detect the cell proliferation. Coimmunoprecipitation (Co-IP) experiment verified the bindi...
Source: Molecular and Cellular Biochemistry - January 5, 2024 Category: Biochemistry Authors: Jing Bao Tingting Xu Wanjie Wang Han Xu Xiaowen Chen Ruixiang Xia Source Type: research
N6-methyladenosine-induced miR-182-5p promotes multiple myeloma tumorigenesis by regulating CAMK2N1
Mol Cell Biochem. 2024 Jan 5. doi: 10.1007/s11010-023-04906-w. Online ahead of print.ABSTRACTMethyltransferase like 3 (METTL3) has been reported to promote tumorigenesis of multiple myeloma (MM), however, the molecular mechanism still needs further research. The N6-methyladenosine (m6A) level in tissues or cells was measured by m6A kit and dot blot assay. The mRNA and protein expression were detected by quantitative real-time PCR (RT-qPCR) and Western blot, respectively. The cell counting kit-8 and colony formation assay were used to detect the cell proliferation. Coimmunoprecipitation (Co-IP) experiment verified the bindi...
Source: Molecular and Cellular Biochemistry - January 5, 2024 Category: Biochemistry Authors: Jing Bao Tingting Xu Wanjie Wang Han Xu Xiaowen Chen Ruixiang Xia Source Type: research
Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia
ConclusionThe genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thrombosis, coronary accidents, or sudden death. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - January 5, 2024 Category: Neurology Source Type: research
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism
AbstractAutistic spectrum disorders (ASD) in children are becoming increasingly common, reaching epidemic proportions. Among the various causes contributing to the development of ASD, the leading place belongs to both chromosomal pathologies and genetic syndromes and their consequence — metabolic imbalance or severe metabolic disorders. Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q24 was detected in the examined 2-year-old boy with a “mild phenotype” of autism without an obvious delay in mental development. A wide range of additio...
Source: Journal of Molecular Neuroscience - January 5, 2024 Category: Neuroscience Source Type: research
