Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report.

Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes. sSMCs are categorized as hereditary or de novo.

Development of a Highly Sensitive β-Glucan Detection System Using Scanning Single-Molecule Counting Method.

To overcome the limitations of the amebocyte lysate (LAL) assay method for the diagnosis of invasive fungal infection, we applied a reaction system combining recombinant β-glucan binding proteins and a scanning single-molecule counting (SSMC) method. A novel (1→3)-β-D-glucan recognition protein (S-BGRP) and a (1→6)-β-glucanase mutant protein were prepared and tested for the binding of (1→6)-branched (1→3)-β-D-glucan from fungi. S-BGRP and (1→6)-β-glucanase mutant proteins reacted with β-glucan from and spp.

Antibody response in COVID-19 patients with and without re-positive RT-PCR results during the convalescent phase.

Nucleic acid testing and antibody testing data from 143 recovered COVID-19 patients during the convalescent phase were retrospectively analyzed. A total of 23 (16.1%) recovered patients re-tested positive for SARS-CoV-2 RNA by RT-PCR.

Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia.

Our findings expand the known clinical features of trisomy 13 by including ectrodactyly as a possible Trisomy 13-associated limb malformation. We highlight the importance of performing antenatal genetic test to establish more specific treatment plan.

Hypogonadotropic hypogonadism associated with another small supernumerary marker chromosome (sSMC) derived from chromosome 22, a case report.

The idiopathic hypogonadotropic hypogonadism (IHH) is portrayed as missing or fragmented pubescence, cryptorchidism, small penis, and infertility. Clinically it is characterized by the low level of sex steroids and gonadotropins, normal radiographic findings of the hypothalamic-pituitary areas, and normal baseline and reserve testing of the rest of the hypothalamic-pituitary axes. Delay puberty and infertility result from an abnormal pattern of episodic GnRH secretion.

Amplification-free gene expression analysis of formalin-fixed paraffin-embedded samples using scanning single-molecule counting.

In this paper, we present the applications of our newly developed, highly sensitive fluorescent detection method referred to as scanning single-molecule counting (SSMC). We found that the target RNA added to the total RNA was detected with high sensitivity at 384 aM by combining a magnetic bead-based assay and SSMC (MB-BA + SSMC). Gene expression analysis without reverse transcription or amplification confirmed that the pattern of gene expression was identical to that of real-time polymerase chain reaction (PCR).

Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome.

Objective: To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC.

Methods: A retrospective analysis was conducted on the clinical data of 244 patients with disorders of sexual development admitted to Peking Union Medical College Hospital from February 1984 to July 2020.

Results: Among the 244 patients with a disorder of sexual development, 69 cases of TS were identified in which 13 patients had sSMC.

Pancreatobiliary Diseases: Evaluation by Transabdominal and Endoscopic Ultrasound.

Pancreaticobiliary diseases are the important causes of morbidity and mortality worldwide. Among the imaging modalities, Transabdominal ultrasound (TUS) is cheap, available, and noninvasive but it has some limitations. Endoscopic ultrasound (EUS) is invasive but it has some diagnostic and therapeutic advantages over TUS.

Psychological impairments after ACL injury - Do we know what we are addressing? Experiences from sports physical therapists.

Psychological impairments can follow an anterior cruciate ligament (ACL) injury and can impact the rehabilitation process. Our aim was to investigate experiences of sports physical therapists (PTs) in addressing psychological impairments in patients after ACL injury. We conducted four focus group interviews with fourteen sports PTs.

[Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes].

Objective: To delineate the origin and structure of 3 cases of small supernumerary marker chromosomes (sSMCs) through cytogenetic and molecular genetic analysis.

Methods: Conventional G, C and N banding were carried out to analyze the chromosomal karyotypes. Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were used to delineate the origin and structure of the sSMCs.

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.

We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient.

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).

Background: Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.

Case Presentation: The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT).

Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.

Objective: We present prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.

Case Report: A 36-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.

Small supernumerary marker chromosomes derived from chromosome 14 and/or 22.

Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes, and most contain a normal centromeric region with an alphoid sequence from a single chromosome. The majority of human chromosomes have a unique centromeric DNA-sequence enabling their indubitable characterization.

Same-sex male couples and single men having children using assisted reproductive technology: a quantitative analysis.

Research Question: How do same-sex male couples (SSMC) and single men perceive their experience of using assisted reproductive technology (ART) in Canada; what factors contribute to their experience and the decisions made throughout the ART process?

Design: This cross-sectional study used an anonymous online survey to gather exploratory data (between August 2018 and August 2019) about participant experience and decision-making considerations, for SSMC and single men internationally who had undergone ART in Canada. The survey was accessed by 145 individuals; 98 participants were included in the final analysis. Statistical Package for the Social Sciences (SPSS) was used for quantitative analysis.

Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.

Homozygous variants of the thrombospondin type-1 domain-containing 1 (THSD1) gene have recently been associated with nonimmune hydrops fetalis (NIHF; OMIM 236750) in infants, as well as with congenital heart disease, hemangiomas, prematurity, and embryonic lethality. Here, we report the first case of a biallelic variant of THSD1 in an extremely premature infant (25 weeks) who suffered from NIHF (eventually resolved) and other manifestations of the THSD1 variant, such as congenital heart disease and hemangiomas. Her prematurity was complicated by pulmonary hypertension and chronic lung disease.

Hemiconvulsion-hemiplegia-epilepsy Syndrome: A Case Series.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is an uncommon outcome of prolonged focal status epilepticus in childhood. We present four cases with age between 6 months and 3 years diagnosed with HHE syndrome. Two patients were lost to follow-up; other two cases had severe developmental delay and refractory epilepsy.

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 15 in a pregnancy associated with recurrent Down syndrome.

Case Report: A 33-year-old, gravida 4, para 2, woman underwent amniocentesis at 16 weeks of gestation because of a previous child with Down syndrome and a karyotype of 46,XY,der(14;21)(q10; q10),+21. In this pregnancy, amniocentesis revealed a karyotype of 47,XX,+21[12]/48,XX,+21,+mar[3].

Performance of the Short Physical Performance Battery in Identifying the Frailty Phenotype and Predicting Geriatric Syndromes in Community-Dwelling Elderly.

The early identification of seniors at high risk of geriatric syndromes is fundamental for targeting interventions to those who most need them. To date, the predictive value of the Short Physical Performance Battery (SPPB) for multifactorial clinical conditions has not been clearly established. Thus, the aim of the present study was to determine whether the SPPB could identify frailty and predict geriatric syndromes in community-dwelling older adults.

Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.

Background: Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally retarded patients. sSMC from all 24 chromosome have been described, most of them originate from the group of the acrocentric, with around half deriving from the chromosome 15. Non-acrocentric sSMC are less common and, in the 30 percent of the cases, are associated with phenotypic effect.

Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function.

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening.

Scanning single-molecule counting system for Eprobe with highly simple and effective approach.

Here, we report a rapid and ultra-sensitive detection technique for fluorescent molecules called scanning single molecular counting (SSMC). The method uses a fluorescence-based digital measurement system to count single molecules in a solution. In this technique, noise is reduced by conforming the signal shape to the intensity distribution of the excitation light via a circular scan of the confocal region.

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis.

Small supernumerary marker chromosomes cannot be accurately identified by G-banding, and the related phenotypes vary greatly. It is essential to specify the origin, size, and gene content of marker chromosomes using molecular cytogenetic techniques. Herein, three fetuses with marker chromosomes were initially identified by G-banding.

[Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes].

Objective: To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in three fetuses.

Methods: The three fetuses were predicted to have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). G-banding chromosomal karyotyping analysis were carried out on amniotic fluid samples of the fetuses and peripheral blood samples from their parents.