Notes

Continual Signs as well as Impairment After COVID-19 Stay in hospital: Data Coming from a Extensive Telerehabilitation System.
the operation, and the other one had digestive tract rudimentary one year after operation, and the condition was stable after conservative treatment.

The preoperative retrograde portal venography can be used to evaluate the portal vein system in children with CTPV, which provides important clinical basis for making appropriate treatment plan before surgery.
The preoperative retrograde portal venography can be used to evaluate the portal vein system in children with CTPV, which provides important clinical basis for making appropriate treatment plan before surgery.
To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis.

Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of
and
genes in the proband were sequenced by whole exome sequencing to determine the candidate pathogenic mutations. At the same time, Sanger sequencing was performed to verify the peripheral blood DNA of the patient and her parents. And the mosaic percentage of the mutation in the proband's somatic cells was detected by the droplet digital PCR method.

A heterozygous nonsense mutation c.1096G>T (p.E366*) was identified in the exon 11 of the
gene, which only had a small mutation peak. A lower percentage of the mutation was found in the DNA of the patient than that in the public database, therefore the possibility of mosaicism might not be excluded. In addition, the droplet digital PCR method demonstrated that the proband was a c.1096G>T mutant mosaicism, and the mosaic percentage was 14%.

The somatic mosaic mutation c.1096G>T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism.
T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism.
To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).

The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.

The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a
c.595dupC frame shift mutation, and other subjects without any significant phenotypes did not present the mutation.

The
c.595dupC frame shift mutation is the genetic cause of this family, which can lead to autosomal dominantly LDS, presenting nuchal translucency thickening and hydrops fetal during pregnancy, and the prognosis is usually good.
The FOXC2c.595dupC frame shift mutation is the genetic cause of this family, which can lead to autosomal dominantly LDS, presenting nuchal translucency thickening and hydrops fetal during pregnancy, and the prognosis is usually good.
To analyze the clinical phenotype and genetic characteristics of a family with combined oxidative phosphorylation deficiency 1 (COXPD-1).

The whole exome sequencing was performed in parents of the proband; and the genetic defects were verified by Sanger sequencing technology in the dried blood spot of the proband, the amniotic fluid sample of the little brother of proband, and the peripheral blood of the parents.

Whole exome sequencing and Sanger validation showed compound heterozygous mutations of
gene c.688G>A(p.G230S) and c.1576C>T (p.R526X) in both the proband and her little brother, and the c.1576C>T of
variant was first reported. The two patients were died in early infancy, and presented with metabolic acidosis, high lactic acid, abnormal liver function, feeding difficulties, microcephaly, development retardation and epilepsy.

gene c.688G>A and c.1576C>T compound heterozygous mutations are the cause of this family of COXPD-1.
T compound heterozygous mutations are the cause of this family of COXPD-1.
To explore effects of different delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots (DBS), so as to provide evidence for improving accurate and reliable detection by tandem mass spectrometry.

A total of 1 254 616 newborn DBS samples in Newborn Screening Center of Zhejiang Province were delivered and stored at room temperature (group A,
=338 467), delivered by cold-chain logistics system and stored at low temperature (group B,
=480 021), or delivered by cold-chain logistics system and stored at low temperature and low humidity (group C,
= 436 128), respectively. The concentrations of amino acids and carnitines in DBS were detected by tandem mass spectrometry. Data analysis was performed by SPSS 24.0 to explore the influence of temperature and humidity on the concentrations of amino acids and carnitines.

The concentrations of amino acids and carnitines in the three groups were skewed, and the differences in amino acid and carnitine concentratno acids and carnitines in group A were higher than those in group B and group C except for citrulline, C4DC+C5OH and isovalerylcarnitine (C5).

Cold-chain logistics system and storage in low temperature and low humidity can effectively reduce degradation of some amino acids and carnitines in DBS, improve the accuracy and reliability of detection, and thus ensures the quality of screening for neonatal metabolic diseases.
Cold-chain logistics system and storage in low temperature and low humidity can effectively reduce degradation of some amino acids and carnitines in DBS, improve the accuracy and reliability of detection, and thus ensures the quality of screening for neonatal metabolic diseases.
To investigate the incidence,clinical,biochemical and genetic characteristics of isovaleric acidemia (IVA) in Zhejiang province.

Between January 2009 and December 2019, a total of 3 510 004 newborns were screened for IVA using tandem mass spectrometry. Patients of IVA were confirmed by urine organic acid and
gene detection. IVA patients were given diet and life management, supplemented with L-carnitine and glycine treatment, long-term followed up to observe and evaluate the growth and intellectual development.

A total of 15 patients with IVA were diagnosed, with an incidence of 1/234 000. Three patients had acute neonatal IVA, and the rest were asymptomatic. The isovalerylcarnitine (C5) levels were increased in all patients. Twelve children underwent urinary organic acid analysis, of which 11 cases had elevated isovalerylglycine levels, 4 cases with 3-hydroxyisovalerate increased simultaneously. selleck Eleven IVA patients underwent genetic testing, 9 patients were compound heterozygous variants in
gene, one with homozygous variants in
gene, and one harbored one
variant.
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