Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature.

Background: Oculocutaneous albinism (OCA) is a group of autosomal recessive hereditary disorders that affect melanin biosynthesis, resulting in abnormalities in hair, skin, and eyes. Retinopathy of prematurity (ROP) is a proliferative retinopathy mainly observed in premature infants with low birth weight and early gestational age, but it can also affect full-term infants or children with normal weight, particularly in developing countries. The coexistence of ROP and OCA is rare.

Apheresis practice variation during the COVID-19 pandemic: Results of a survey.

Background: The COVID-19 pandemic affected healthcare delivery across all specialties including apheresis. To describe the changes in apheresis service practices that occurred during the pandemic, the American Society for Apheresis (ASFA) Apheresis Medicine Attending Physician Subcommittee conducted a survey study.

Study Design And Methods: A 32-question survey was designed and distributed to 400 ASFA physician members on September 7, 2022.

Impact of Patient Blood Management on Red Blood Cell Utilization in an Urban Community Teaching Hospital: A Seven-Year Retrospective Study.

Objectives: This study aimed to showcase how implementing a patient blood management (PBM) program effectively cuts unnecessary red blood cell (RBC) transfusions in a New York City urban community teaching hospital.

Methods: Analyzing seven years from 2013 to 2019, a retrospective review of RBC transfusions was conducted.

Results: Following the introduction of PBM, considerable improvements were observed annually.

A retrospective study for association between post-transfusion hemoglobin S level and pre-transfusion hemoglobin S level at the next scheduled transfusion.

Background: Patients with sickle cell disease (SCD) frequently undergo prophylactic red blood cell (RBC) exchange transfusion and simple transfusion (RCE/T) to prevent complications of disease, such as stroke. These treatment procedures are performed with a target hemoglobin S (HbS) of ≤30%, or a goal of maintaining an HbS level of <30% immediately prior to the next transfusion. However, there is a lack of evidence-based instructions for how to perform RCE/T in a way that will result in an HbS value <30% between treatments.

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

Background: Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases. The development of next-generation sequencing (NGS) technology provides new opportunities to expand current newborn screening methodologies.

Methods: We designed a a newborn genetic screening (NBGS) panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.

Efficacy and Safety of COVID-19 Convalescent Plasma in Hospitalized Patients: A Randomized Clinical Trial.

Importance: There is clinical equipoise for COVID-19 convalescent plasma (CCP) use in patients hospitalized with COVID-19.

Objective: To determine the safety and efficacy of CCP compared with placebo in hospitalized patients with COVID-19 receiving noninvasive supplemental oxygen.

Design, Setting, And Participants: CONTAIN COVID-19, a randomized, double-blind, placebo-controlled trial of CCP in hospitalized adults with COVID-19, was conducted at 21 US hospitals from April 17, 2020, to March 15, 2021.

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus.

FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.

Background: Fragile X syndrome (FXS), caused by CGG-repeat expansion in FMR1 promoter, is one of the most common causes of mental retardation. Individuals with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected offspring. Frequencies of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in  the mainland of China.

Apheresis physician well-being during the COVID-19 pandemic: Results of a survey.

Background: The COVID-19 pandemic has placed additional stressors on physician lives. In this study, we report findings from a survey conducted among attending physician (AP) members of the American Society for Apheresis (ASFA) to elucidate the status of their well-being during the COVID-19 pandemic as well as resources provided or actions taken by their institutions and themselves personally to maintain or improve their well-being.

Study Design And Methods: A 17-question, voluntary, IRB-approved survey regarding well-being was distributed to the ASFA AP members between August 26, 2020 and September 16, 2020.

Apheresis medicine in the era of advanced telehealth technologies: An American Society for Apheresis position paper Part I: Understanding the basic technologies and apheresis medicine practice models.

The wide spread availability and use of sophisticated high-speed telecommunication networks coupled with inexpensive and easily accessible computing capacity have catalyzed the creation of new tools and strategies for healthcare delivery. Such tools and strategies are of value to apheresis medicine (AM) practitioners if they improve delivery of patient care, enhance safety during a therapeutic apheresis (TA) intervention, facilitate care access, advance technical capabilities of apheresis devices, and/or elevate quality performance within TA programs. In the past several years, healthcare delivery systems' adoption of telecommunication technologies has been fostered by organizational financial and quality improvement objectives.

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.

Introduction: Mutations within TFG gene were recently reported to cause Charcot-Marie-Tooth disease 2 (CMT2). However, only few pedigrees were documented so far. Here, we reported a Chinese CMT2 pedigree with 8 affected cases and a novel TFG mutation.

Impact of Prothrombin Complex Concentrate on Blood Use, Cost, and Outcomes in Heart Transplantation.

Background: Left ventricular assist device (LVAD) recipients undergoing heart transplantation have increased bleeding risk. We compared conventional warfarin reversal with fresh frozen plasma vs 4-factor prothrombin complex concentrate (PCC) and the effect on transfusion requirements, blood bank costs, and clinical outcomes.

Methods: A retrospective review identified 60 consecutive LVAD recipients undergoing heart transplantation divided into two groups: 30 (no PCC) received fresh frozen plasma and 30 (PCC) received PCC.

[Methylation analysis of CpG island DNA of FMR1 gene in the fragile X syndrome].

Objective: To establish a method of methylation-sensitive restriction enzymes based quantitative PCR (MSRE-qPCR) for analysis of CpG island DNA of FMR1 gene, and to assess its value for molecular diagnosis of fragile X syndrome.

Methods: Thirty boys with mental retardation and abnormal repeats of 5'(CGG)n in the FMR1 gene and 20 mothers were analyzed by conventional PCR screening. Eag I was used to digest genomic DNA, and qPCR was performed to amplify CpG island in the FMR1 gene using both undigested and digested templates.

[Relationship between 22q11 microdeletion syndrome and congenital heart disease].

Objective: To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease.

Methods: Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization.

[Clinical and genetic analysis of a pedigree of Kennedy disease].

Objective: To review the clinical and genetic features of a pedigree of Kennedy disease in China.

Methods: The clinical data of patients from a Kennedy disease family were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.

Spatiotemporal expression of PSD-95 in Fmr1 knockout mice brain.

To investigate and compare the spatial and temporal expression of post-synaptic density-95 (PSD-95) in Fmr1 knockout mice (the animal model of fragile X syndrome, FXS) and wild-type mice brain, on postnatal day 7 (P7), P14, P21, P28 and P90, mice from each group were decapitated, and three principal brain regions (cerebral cortex, hippocampus and cerebellum) were obtained and stored for later experiments. PSD-95 mRNA in the three brain areas was analyzed with quantitative RT-PCR. PSD-95 protein was measured by immunohistochemical staining and Western blot.

Spontaneous mutation of hemoglobin Lufkin in a white boy.

A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother.

[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].

We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia (SCA). A series of clinical tests was performed including visual examination, retinal angiography, visual evoked potential, electroretinogram and magnetic resonance imaging. Genomic DNA of the family members and normal controls was used for amplification of the (CAG)n repeats of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA genes by PCR.

[Quantities of human papillomavirus 16 E6 mRNA and its relationship with expression of survivin in cervical cancer].

Objective: To investigate the quantities of human papillomavirus (HPV) 16 E6 gene and to study its relationship with the expression of survivin in cervical carcinoma.

Methods: In 148 patients including cervical intraepithelial neoplasia (CIN), cervical carcinoma and chronic cervicitis, the quantities of HPV 16 E6 gene were detected by semiquantitative polymerase chain reaction (PCR); and the expressions of survivin were measured by immunohistochemical streptavidin-biotin peroxidase (SP) assay.

Results: The quantities of HPV 16 E6 gene were 0.

Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.

We identified a novel erythropoietin (Epo)-induced protein (CIP29) in lysates of human UT-7/Epo leukemia cells using two-dimensional gel analysis and cloned its full-length cDNA. CIP29 contains 210 amino acids with a predicted MW of 24 kDa, and has a N-terminal SAP DNA-binding motif. CIP29 expression was higher in cancer and fetal tissues than in normal adult tissues.