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Mitral Valve Stenosis in Marshall-Smith Syndrome: Expanding Phenotype Spectrum.

• MSS is a rare genetic disorder. • Cardiac findings in MSS include ASD, VSD, PDA, and aortic root dilation. • MS reported here could likely represent an expanding phenotype of MSS. • Formal cardiac evaluation is warranted in MSS given the reported cardiac findings.

Дигидроартемизинин усиливает ремиелионацию, переключая микроглию на репаративный фенотип.

По общему признанию, одним из наиболее мощных подходов к демиелинизационной терапии является бурный ремонт миелина, что в основном способствует восстановлению неврологических функций. Поддержание иммунной гомеостази в микроглии является предпосылкой для создания репаративной среды для миелина. Дигидроартемизин (ДХА) клинически эффективен в изменении иммунологического статуса и предполагает возможность лечения демиелинизирующих заболеваний. Однако его значение для прореалионации остается неясным.МЕТОДЫ: Сначала мы провели оценку воздействия ДГВ на нейрофункциональное восстановление и целостност

Совпадение в аннотации оригинала
BACKGROUND: Boosting myelin repair is widely recognized as one of the most powerful approaches for demyelinating therapy, essentially contri … o were used to reveal the dependency between DHA and microglia. The effect of DHA on the reparative phenotype of microglia, particularly on cholesterol recycling and differentiation of oligodendrocyte progenitor cells (OPCs), was evaluated in microglia-OPCs unit either in vitro or in vivo challenged with myelin debris. Finally, to broaden the clinical appli …

Clinical and Genomic Phenotype of Brain Metastasis in Nasopharyngeal Carcinoma.

Brain metastasis in nasopharyngeal carcinoma is a rare but poor prognosis clinical problem. This study aims to investigate the clinical characteristics and identify the genomic profiling of nasopharyngeal carcinoma brain metastasis. Patients with a diagnosis of nasopharyngeal carcinoma who visited at the Fifth Affiliated Hospital of Sun Yat-sen University since January 2013 to December 2023 were retrospectively collected. Clinical data of patients diagnosed with nasopharyngeal carcinoma brain metastasis were extracted. Paraffin blocks of NPC brain metastases were acquired for immunohistochemis

IVF exposure induced intergenerational effects on metabolic phenotype in mice.

RESEARCH QUESTION: What is the potential transmission of metabolic phenotype from IVF offspring to the subsequent generation? DESIGN: An IVF mouse model was established. The F1 generation mice were produced though IVF or natural mating and the F2 generation was obtained through the mating of F1 generation males with normal females. Their metabolic phenotype, including systemic and hepatic glucolipid metabolism, was examined. RESULTS: It was found that IVF F1 males exhibited metabolic changes. Compared with the control group, the IVF F1 generation showed increased body weight, elevated fastin…

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype.

OBJECTIVES: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid i … ene: a missense c.278G > A variant that has already been reported in a patient with the severe mut⁰ phenotype; and a novel splice site variant c.2125-2A > G. RT-PCR analysis showed that, while the novel variant clearly alters splicing, a minor amount of a full-length transcript is generated, suggesting that a wild-type protein may be produced although at a …

Functional Characterization of Anti-C3bBb Autoantibodies and C3 Glomerulopathy Phenotype.

KEY POINTS: Dysregulation of the C3bBb convertase is a key factor in the pathogenesis of C3 glomerulopathy and primary Ig-mediated membranoproliferative GN. IgG-driven increase of the C3bBb convertase formation was correlated with C3 consumption. IgG antibodies that promote the formation and the stabilization of the C3bBb convertase were associated with the severity of C3 glomerulopathy. BACKGROUND: C3 nephritic factors, that is, autoantibodies that stabilize the C3 convertase of the alternative pathway are the most frequent acquired abnormality in C3 glomerulopathy and primary Ig-mediated me

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 BRPF1 variants. Language disorders were common (11/12), and most had mild to moderate deficits across rece…

Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple renal cysts causing kidney … udogene region. A founder variant in the PKD2 gene was identified in our Maltese cohort with ADPKD. Phenotype of patients with ADPKD is significantly related to the genotype confirming the important role of molecular investigations in the diagnosis and prognosis of polycystic kidney disease. Moreover, the findings also highlight the variability in the clini …

Noonan syndrome-like phenotype associated with an ERF frameshift variant.

Noonan syndrome is a so-called "RASopathy," that is characterized by short stature, distinctive facial features, congenital heart defects, a … aniosynostosis. Here, we report an ERF frameshift variant cosegregating with a Noonan syndrome-like phenotype in a family. The proband was a 3-year-old female who presented with dysmorphic facial features, including proptosis, hypertelorism, slightly down slanted palpebral fissures, low-set posteriorly rotated ears, depressed nasal bridge, short stature, an …

Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.

OBJECTIVE: Mitochondrial complex-I deficiency, nuclear type 16, is a rare autosomal recessive disorder caused by biallelic pathogenic variants in NDUFAF5 (C20orf7) (OMIM 618238). The aim of this study was to describe a severe early prenatal manifestation of this disorder, which was previously considered to occur only postnatally. METHODS: This was a multicenter retrospective case series including five fetuses from three non-related families, which shared common sonographic abnormalities, including brain cysts, corpus callosal malformations, non-immune hydrops fetalis and growth restriction. G

Subclinical dactylitis is linked with active phenotype of psoriatic arthritis.

OBJECTIVE: Dactylitis has been identified as an important feature of psoriatic arthritis (PsA) with poorer prognosis. Moreover, ultrasound c … P<0.05) than no-dactylitis group. CONCLUSION: Subclinical dactylitis also represents a more active phenotype of PsA, which calls for more attention and probably more aggressive therapy.

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye.

INTRODUCTION: Lipoid proteinosis (LP), a rare autosomal recessive disorder typified by generalized thickening of the skin, mucosa, and certa … ical variations within the same family. In our series, the lack of correlation between genotype and phenotype makes providing specific genetic counseling to families challenging.

Periodontal phenotype modification in surgically facilitated orthodontics: A case report.

BACKGROUND: Orthodontic treatment in adults with thin periodontal phenotype presents challenges such as lengthy treatment time and increased risk for gingival recessions. In this case, surgically facilitated orthodontic treatment (SFOT) was proposed to accelerate orthodontic tooth movement while modifying the periodontal phenotype. METHODS: An orthodontic patient was referred for periodontal evaluation of lower anterior teeth, which presented a thin gingival phenotype and bone dehiscence. SFOT was performed on the mandible using particulate allograft combined with platelet rich fibrin (PRF) a…

Integrated Clinical Genotype-Phenotype Characteristics of STAT3-Mutated Myeloid Neoplasms.

PURPOSE: STAT3 is a key transcription factor that mediates cancer progression through phosphorylation or gain-of-function mutations. STAT3 activation in myeloid neoplasms (MN) is primarily mediated through phosphorylation. STAT3 mutation has only rarely been reported in MNs. EXPERIMENTAL DESIGN: We assessed the clinicopathologic and molecular genetic features of 32 STAT3-mutated MNs. RESULTS: The frequency of STAT3 mutation in MNs was <0.5%. Twenty (62.5%) cases were classified as acute myeloid leukemia, 7 (21.9%) as myelodysplastic syndrome, and 5 (15.6%) as chronic myelomonocytic leukemia,

Cognitive phenotype and neurodegeneration associated with Tau in Huntington's disease.

OBJECTIVE: The clinical phenotype of Huntington's disease (HD) can be very heterogeneous between patients, even when they share equivalent CAG repeat length, age, or disease burden. This heterogeneity is especially evident in terms of the cognitive profile and related brain changes. To shed light on the mechanisms participating in this heterogeneity, the present study delves into the association between Tau pathology and more severe cognitive phenotypes and brain damage in HD. METHODS: We used a comprehensive neuropsychological examination to characterize the cognitive phenotype of a sample o…

Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.

The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled. Exon 4 of BEST1 was mutated in 3 cases, while exons 2, 3, and 7 in others. Deletion is seen in Exon 7 and missense mutation in other exons. Sporadic autosomal dominant and recessive …

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

OBJECTIVE: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype-phenotype associations remain poorly understood. METHODS: We assessed data from a retrospective cohort of 1018 individuals with SCN1A-related epilepsies. We explored relationships between variant characteristics (position, in silico prediction scores: Combined Annotation Dependent Depletion (CADD), Rare Exome Variant Ensemble Learner (REVEL), SC…

Phenotype correlations with pathogenic DNA variants in the MUTYH gene.

MUTYH -associated polyposis (MAP) is an autosomal recessive disorder where the inheritance of constitutional biallelic pathogenic MUTYH variants predisposes a person to the development of adenomas and colorectal cancer (CRC). It is also associated with extracolonic and extraintestinal manifestations that may overlap with the phenotype of familial adenomatous polyposis (FAP). Currently, there are discrepancies in the literature regarding whether certain phenotypes are truly associated with MAP. This narrative review aims to explore the phenotypic spectrum of MAP to better characterise the MAP p…

The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis.

Objective: Hereditary spherocytosis (HS) is a common hereditary hemolytic disease. This study aimed to explore the correlation between the phenotype and mutant genotype of HS to improve the clinical understanding of HS. Methods: This study reported a case of spontaneous mutation of the ANK1 gene in HS, reviewed previous studies on the genotype-phenotype correlation of HS, statistically analyzed the main types of gene mutations in HS, and summarized the clinical data of patients. Results: This patient had clinical manifestations of anemia, splenomegaly, peripheral blood smear with increased sph…