Impact of genetic test interpretation on a missense variant in Cohen syndrome.

Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.

Massive hemothorax following internal jugular vein catheterization under ultrasound guidance: A case report.

Background: Hemothorax is a rare but life-threatening complication of central venous catheterization. Recent reports suggest that ultrasound guidance may reduce complications however, it does not guarantee safety.

Case Summary: A 75-year-old male patient was admitted for laparoscopic radical nephrectomy.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Calcium (Ca) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dependent Ca pumps that participate in the regulation of intracellular free Ca. Here, we clinically describe a cohort of 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay.

Fatal rhabdomyolysis and disseminated intravascular coagulation after total knee arthroplasty under spinal anesthesia: A case report.

Background: Rhabdomyolysis develops as a result of skeletal muscle cell collapse from leakage of the intracellular contents into circulation. In severe cases, it can be associated with acute kidney injury and disseminated intravascular coagulation, leading to life threatening outcomes. Rhabdomyolysis can occur in the perioperative period from various etiologies but is rarely induced by tourniquet use during orthopedic surgery.

Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.

Objective: 22q11.2 deletion is more common than trisomies 18 and 13 combined, yet no routine approach to prenatal screening for this microdeletion has been established. This study evaluated the clinical sensitivity and specificity of a targeted cell-free DNA (cfDNA) test to screen for fetal 22q11.

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.

Nemaline myopathies are a clinically and genetically heterogeneous group of congenital myopathies, mainly characterized by muscle weakness, hypotonia and respiratory insufficiency. Here, we report a male foetus of consanguineous parents with a severe congenital syndrome characterized by arthrogryposis detected at 13 weeks of gestation. We describe severe complex dysmorphic facial and musculoskeletal features by post mortem fetal examination confirming the prenatal diagnosis.

PEDIA: prioritization of exome data by image analysis.

Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.

Methods: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data.

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.

Background: Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by truncating mutations of CLCN5 in the majority of affected cases.

A Fosmid Pool-Based Next Generation Sequencing Approach to Haplotype-Resolve Whole Genomes.

Haplotype resolution of human genomes is essential to describe and interpret genetic variation and its impact on biology and disease. Our approach to haplotyping relies on converting genomic DNA into a fosmid library, which represents the entire diploid genome as a collection of haploid DNA clones of ~40 kb in size. These can be partitioned into pools such that the probability that the same pool contains both parental haplotypes is reduced to ~1 %.

Endotracheal intubation by inexperienced trainees using the Clarus Video System: learning curve and orodental trauma perspectives.

Background: The ideal alternative airway device should be intuitive to use, yielding proficiency after only a few trials. The Clarus Video System (CVS) is a novel optical stylet with a semi-rigid tip; however, the learning curve and associated orodental trauma are poorly understood.

Methods: Two novice practitioners with no CVS experience performed 30 intubations each.

Multiple haplotype-resolved genomes reveal population patterns of gene and protein diplotypes.

To fully understand human biology and link genotype to phenotype, the phase of DNA variants must be known. Here we present a comprehensive analysis of haplotype-resolved genomes to assess the nature and variation of haplotypes and their pairs, diplotypes, in European population samples. We use a set of 14 haplotype-resolved genomes generated by fosmid clone-based sequencing, complemented and expanded by up to 372 statistically resolved genomes from the 1000 Genomes Project.

Estimation of the nares-to-epiglottis distance and the nares-to-vocal cords distance in young children.

Background: Estimation of the nares-to-epiglottis and nares-to-vocal cords distances would facilitate the selection of properly sized nasopharyngeal airways and appropriate positioning of a fibreoptic bronchoscope in young children. The purposes of this study were to measure the nares-to-epiglottis and nares-to-vocal cords distances and to create an algorithm to predict these distances based on anatomical landmarks and paediatric characteristic data.

Methods: Two hundred and eleven children, aged 1-10 yr, undergoing elective surgery were investigated.

Venous flow dynamics during spinal block in normotensive and hypertensive elderly patients: a duplex ultrasonographic study.

Background: Spinal block induces hyperkinetic change in lower extremity blood flow. We compared the venous flow dynamic responses to spinal block in normotensive and hypertensive elderly patients.

Methods: Following spinal block using 10 mg 0.

Hypotension in patients administered indigo carmine containing impurities -A case report-.

Indigo carmine has been used for eight decades with few adverse effects. Several of our patients, however, experienced severe hypotensive episodes after indigo carmine administration within a period of one month. Analysis of the raw materials used to formulate the preparation of indigo carmine we used showed that they contained impurities.

Fosmid-based whole genome haplotyping of a HapMap trio child: evaluation of Single Individual Haplotyping techniques.

Determining the underlying haplotypes of individual human genomes is an essential, but currently difficult, step toward a complete understanding of genome function. Fosmid pool-based next-generation sequencing allows genome-wide generation of 40-kb haploid DNA segments, which can be phased into contiguous molecular haplotypes computationally by Single Individual Haplotyping (SIH). Many SIH algorithms have been proposed, but the accuracy of such methods has been difficult to assess due to the lack of real benchmark data.

Evaluating a thrombosed azygous vein aneurysm combined with pulmonary arterial thromboembolism by ECG-gated multidetector CT: a case report.

Azygous vein aneurysm is a rare congenital lesion that needs to be differentiated from mediastinal mass lesions. Although almost of these anomalies are asymptomatic lesions, we experienced an interesting case in which a thrombus within an azygous vein aneurysm in a 75-year-old woman caused pulmonary thromboembolism. The patient was managed by medical treatment for one month and then the thrombus within both the azygous vein aneurysm and the pulmonary arteries completely resolved.

Optimum bolus dose of propofol for tracheal intubation during sevoflurane induction without neuromuscular blockade in children.

The purpose of this study was to determine the optimum bolus dose of propofol required to provide excellent conditions for tracheal intubation following inhalational induction of anaesthesia using 5% sevoflurane without neuromuscular blockade. Twenty-eight children, aged three to seven years, requiring anaesthesia for short duration surgery were recruited. Two minutes after beginning the inhalational induction with 5% sevoflurane and 60% nitrous oxide, a predetermined dose of propofol was injected over 10 seconds.

Estimation of teeth-to-vallecula distance for prediction of optimal oropharyngeal airway length in young children.

Background: Estimation of teeth-to-vallecula distance would facilitate the selection of properly sized oropharyngeal airways in young children. The aims of the present study were to measure the teeth-to-vallecula distance and to create an algorithm to predict this distance based on anatomical landmarks and patient characteristics in children.

Methods: Two hundred children, aged 1-9 yr, undergoing elective surgery were investigated.

A comprehensively molecular haplotype-resolved genome of a European individual.

Independent determination of both haplotype sequences of an individual genome is essential to relate genetic variation to genome function, phenotype, and disease. To address the importance of phase, we have generated the most complete haplotype-resolved genome to date, "Max Planck One" (MP1), by fosmid pool-based next generation sequencing. Virtually all SNPs (>99%) and 80,000 indels were phased into haploid sequences of up to 6.

The effects of sevoflurane with propofol and remifentanil on tracheal intubation conditions without neuromuscular blocking agents.

Background: Propofol and remifentanil are used for tracheal intubation in the absence of neuromuscular blocking agents. We hypothesized that the addition of sevoflurane to propofol and remifentanil would improve intubation conditions and provide hemodynamic stability.

Methods: Seventy-six patients scheduled for elective surgery were randomly allocated to be ventilated with either 4% (group I) or 7% sevoflurane (group II) after propofol injection (2 mg/kg).

Fentanyl-sparing effect of acetaminophen as a mixture of fentanyl in intravenous parent-/nurse-controlled analgesia after pediatric ureteroneocystostomy.

Background: Although acetaminophen has been used widely and is well tolerated in children, its efficacy and safety have not been clarified when combined with an opioid in intravenous parent-/nurse-controlled postoperative analgesia.

Methods: Sixty-three children (aged 6-24 months) who had undergone elective ureteroneocystostomies were enrolled in this prospective, randomized, double-blinded study. After the surgery, an analgesic pump was programmed to deliver fentanyl at a basal infusion rate of 0.

Ultrasonographic evaluation of the femoral vein in anaesthetised infants and young children.

We investigated the cross-sectional area of the femoral vein and its relationship to the femoral artery at two anatomical levels, in infants and children. Sixty-six subjects were allocated to one of two groups: infants (< 1 year, n = 31) or children (1-6 years, n = 35). After induction of general anaesthesia, the femoral vein was evaluated by ultrasound with the patients' legs at 30° and 60° of abduction and their hips externally rotated.

Effects of skin traction on cross-sectional area of the internal jugular vein in infants and young children.

Internal jugular veins (IJV) are commonly used to obtain central venous access. However percutaneous cannulation of the IJVis difficult in infants and young children because of its diminutive size. The aim of this study was to evaluate the effect of skin traction on the cross-sectional area of the IJV in anaesthetised infants (younger than one year) and young children (one to six years) using ultrasound.