1.Quality of care among patients with acute heart failure at the emergency room and adherence of physicians at the University of the Philippines – Philippine General Hospital to the division of cardiovascular medicine – heart failure pathway:A retrospective cohort study.
Mark John D. Sabando ; Felix Eduardo R. Punzalan ; Frances Dominique V. Ho ; Tam Adrian P. Aya-ay ; Kevin Paul Da. Enriquez ; Marie Kirk A. Maramara ; Ronald Allan B. Roderos ; Lauren Kay M. Evangelista
Acta Medica Philippina 2026;60(2):22-32
OBJECTIVES
Clinical pathways (CPs) ensure adherence to heart failure (HF) management guidelines. To optimize quality care in a low resource setting, an evidence-based care pathway for the management of acute HF was implemented at the emergency department (ED) of the Philippine General Hospital (PGH), the designated national tertiary hospital and referral center. This study aimed to describe the characteristics of adults with acute HF admitted at the ED and evaluate the quality of care they received, measured using physician adherence to the hospital’s acute heart failure CP.
METHODSThis was a retrospective, descriptive cohort study. We reviewed the inpatient charts of all adult patients with acute HF admitted to the ED of the PGH and referred to the Division of Cardiovascular Medicine between December 1, 2022 and May 31, 2023. Quality of care was assessed based on adherence to quality indicators adapted from routine and conditional order sets detailed in the pathway. Descriptive statistics was utilized to describe patient characteristics, quality of care, and outcomes.
RESULTSTwo hundred thirty-six (236) patients were included, with a mean age of 51.8 years. Majority were male (53.4%); hypertension (61.4%) and ischemic heart disease (53.8%) were the most common comorbidities, and infection the most common precipitant of decompensation (60.6%). There were optimal adherence rates to routine orders, which included referrals to Internal Medicine and Cardiology, baseline vital signs monitoring, fluid intake and output monitoring, chest radiograph, complete blood count, blood urea nitrogen, sodium, potassium, prothrombin time, partial thromboplastin time, arterial blood gas, urinalysis, and N-terminal pro b-type natriuretic peptide. Conditional orders, such as oxygen support, focused echocardiography, thyroid - stimulating hormone, and the use of vasopressors, diuretics, and venous thromboembolism prophylactic agents, were optimally performed when warranted. However, we noted suboptimal adherence to certain resource-intensive conditional orders, such as hourly monitoring of urine output (61.4%), hooking to cardiac monitor (53.8%), and performance of 12-lead ECG within 10 minutes (56.8%). Further, only 43.9% of patients were referred to the intensive care unit. Troponin I, calcium, magnesium, and albumin were ordered in excess.
CONCLUSIONOverall adherence rate of physicians to the hospital’s Acute Heart Failure Pathway was satisfactory. Work is needed to improve adherence to hourly urine output monitoring, consistent hooking to cardiac monitor, and timely performance of 12-lead ECG – an effort that begins with expanding in-hospital diagnostic equipment and human resource supply. We recommend continuous pathway implementation with periodic evaluation and stakeholder feedback to further improve quality of care.
Human ; Male ; Female ; Middle Aged: 45-64 Yrs Old ; Adult ; Albumins ; Blood ; Blood Urea Nitrogen ; Calcium ; Cardiology ; Chart ; Charts ; Cohort Studies ; Critical Care ; Critical Pathways ; Diagnostic Equipment ; Disease ; Diuretics ; Echocardiography ; Electrocardiography ; Emergencies ; Emergency Service, Hospital ; Equipment And Supplies ; Evaluation Studies As Topic ; Feedback ; Heart ; Heart Diseases ; Heart Failure ; Hormones ; Hospitals ; Hospitals, General ; Humans ; Hypertension ; Indicators And Reagents ; Infection ; Infections ; Inpatients ; Intensive Care Units ; Internal Medicine ; Lead ; Magnesium ; Male ; Medicine ; Myocardial Ischemia ; Natriuretic Peptide, Brain ; Natriuretic Peptides ; Nitrogen ; Overall ; Oxygen ; Partial Thromboplastin Time ; Patients ; Peptides ; Philippines ; Physicians ; Potassium ; Prothrombin ; Prothrombin Time ; Quality Of Health Care ; Referral And Consultation ; Sodium ; Statistics ; Tertiary Care Centers ; Thorax ; Thromboembolism ; Thromboplastin ; Thyroid Gland ; Time ; Troponin ; Troponin I ; Universities ; Urea ; Urinalysis ; Urine ; Venous Thromboembolism ; Vital Signs ; Work ; Workforce
2.Utilization of in silico-designed primers for SARS-CoV-2 molecular surveillance using Direct PCR Product Sequencing Surveillance (DPPSS) method.
Sarah Jane DATAY-LIM ; Flyndon Mark DAGALEA ; Michael Reigh GUEVARRA ; Kristine AVILA ; Kim Claudette FERNANDEZ ; Francisco HERALDE III
Philippine Journal of Pathology 2026;11(1):12-19
BACKGROUND
The COVID-19 pandemic caused by SARS-CoV-2 significantly strained healthcare systems in the Philippines, highlighting the critical importance of reliable molecular diagnostics and genomic surveillance. Although vaccination efforts and public health measures mitigated disease impact, the continued emergence of viral variants underscores the need for sustainable local surveillance strategies. Strengthening in-country capacity through the development of in silico–designed primers and cost-effective sequencing approaches can enhance rapid variant detection and improve preparedness for future emerging infectious diseases.
OBJECTIVEThis paper offers a method in detecting the SARS-CoV-2 virus and its variants. A direct PCR product sequencing surveillance or DPPSS offers a new possibility of detecting emerging disease by using PCR products and using it as templates in determining the base sequence.
METHODOLOGYA total of 20 random positive samples for SARS-COV-2 from March 2022 sample pool in Metro Manila, Philippines was used in this study. The RNA was extracted using Purelink™ RNA Mini Kit, quantified with NanoDrop, and subjected to one-step RT-PCR. An in-house designed in silico primers were used in this study by using thermodynamic parameters to optimize specificity and amplification efficiency, considering GC contents, balanced Tm, minimal secondary structures and cross-dimers and in silico validation via Basic Local Alignment Search Tool (BLAST) against reference databases.
Amplicons were analyzed through gel electrophoresis, sequenced, and analyzed using BioEdit software. A nucleotide BLAST search identified COVID-19 variants, confirmed using Cov-Lineages website.
RESULTSIn silico designed primers (S1, S2, E/M, Orf1ab) collectively exhibited 100% sensitivity in detecting SARS-CoV2 in nasopharyngeal swab samples. Individual primer sensitivities varied, with Orf1ab at 58.82% and E/M at 90.91%. Our analysis revealed the prevalence of Omicron sublineage BA.2 in the Philippines, aligning with local data showing more BA.2 cases than the global predominance of BA.1.
CONCLUSIONCombined in silico primers (S1, S2, E/M, ORF1ab) accurately detect SARS-COV-2 and its variants. This method provides a valuable diagnostic and surveillance tool for public health management.
Covid-19 ; Polymerase Chain Reaction ; Molecular Diagnostic Techniques
3.Molecular cytogenetic analysis and diagnosis of three fetuses with psu idic(Y)(q11.22) using a combination of multiple techniques.
Xuejiao CHEN ; Meizhen DAI ; Milei ZHU ; Weiwu SHI
Chinese Journal of Medical Genetics 2025;42(3):360-367
OBJECTIVE:
To explore the molecular cytogenetic characteristics of three fetuses with psu idic(Y)(q11.22) using a combination of multiple methods.
METHODS:
A total of 11 000 pregnant women who underwent prenatal diagnosis at the Prenatal Diagnosis Center of Taizhou City from January 2019 to October 2024 were selected as the study subjects. Chromosome karyotype analysis (G-banding) and copy number variation analysis based on next-generation sequencing (NGS) were performed on the amniotic fluid/cord blood samples of the 11 000 fetuses. For cases suspected of Y chromosome abnormalities, C-banding and/or fluorescence in situ hybridization (FISH) and AZF microdeletion testing were additionally conducted. This study has been reviewed and approved by the Medical Ethics Committee of Taizhou Hospital, Zhejiang Province (Ethics No. KL20240860).
RESULTS:
Among the 11,000 prenatal samples undergoing concurrent karyotype and copy number variation analysis, two fetuses with 45,X/46,X,psu idic(Y)(q11.22) mosaicism and one fetus with 46,X,psu idic(Y)(q11.22) were detected. FISH detection indicated that approximately 66.7% of the cells in fetus 2 exhibited a dicentric Y chromosome, and the metaphase karyotype supported the presence of a pseudodicentric chromosome. AZF testing revealed complete deletion of the AZFb+AZFc regions in fetus 2 and fetus 3.
CONCLUSION
Conventional G-banding karyotype analysis for psu idic(Y)(q11.22) is prone to misdiagnosis or missed diagnosis. The combined application of chromosome karyotype analysis (G+C banding), copy number variation analysis, and FISH detection in clinical practice can accurately diagnose fetuses with psu idic(Y).
Humans
;
Female
;
Pregnancy
;
Prenatal Diagnosis/methods*
;
DNA Copy Number Variations/genetics*
;
Adult
;
Chromosomes, Human, Y/genetics*
;
Karyotyping
;
In Situ Hybridization, Fluorescence
;
Cytogenetic Analysis/methods*
;
Fetus
;
High-Throughput Nucleotide Sequencing
;
Male
4.Application value of chromosomal microarray analysis for the detection of low-level mosaicisms in amniotic fluid samples and analysis of rare cases.
Huiyuan SHAO ; Zongyu MIAO ; Hong WU ; Lei LI ; Xiaoyan LIU ; Yuping WANG ; Lihua JIANG
Chinese Journal of Medical Genetics 2025;42(4):441-445
OBJECTIVE:
To assess the value of chromosomal microarray analysis (CMA) for the detection of low-level mosaicisms in amniotic fluid samples, and to retrospectively analyze the rare cases of mosaicisms.
METHODS:
Chromosomal karyotype of the fetus was determined by G-banding analysis of cultured amniotic fluid cells. CMA was used to detect copy number variation of fetal chromosomes, and fluorescence in situ hybridization (FISH) was used to determine the proportion of fetal chromosomal mosaicisms in uncultured amniotic fluid cells.
RESULTS:
Among 825 prenatal samples, 4 cases of true fetal mosaicisms were detected, which yielded an incidence of 0.48%. Two cases were sex chromosomal mosaicisms, and two were autosomal mosaicisms, which involved chromosomes 8 and 9, respectively. All cases were verified by G-banding analysis of cultured amniotic fluid cells, CMA, and/or FISH.
CONCLUSION
CMA has a great value for detecting low-level mosaicisms in amniotic fluid samples, though the positive results need to be verified by other techniques and should be interpreted with caution. The review of rare cases can provide a basis for prenatal genetic counseling.
Humans
;
Female
;
Amniotic Fluid/metabolism*
;
Pregnancy
;
Mosaicism/embryology*
;
Prenatal Diagnosis/methods*
;
Adult
;
In Situ Hybridization, Fluorescence
;
Microarray Analysis/methods*
;
Karyotyping
;
Retrospective Studies
;
Male
5.Clinical characteristics and genetic analysis of four patients with Disorders of sex development.
Xiuyan WANG ; Fanrong MENG ; Yunfang SHI ; Duan JU ; Xinghong ZHOU ; Haiwei DONG ; Xiaozhou LI
Chinese Journal of Medical Genetics 2025;42(9):1089-1095
OBJECTIVE:
To explore the clinical characteristics and genetic factors in four patients with Disorder of sex development (DSD).
METHODS:
Four patients who visited Tianjin Medical University General Hospital between January 2023 and January 2024, presenting with short stature, abnormal external genitalia, or infertility as their chief complaints, were selected as the study subjects. Clinical data were collected, and peripheral or umbilical cord blood samples were obtained for karyotyping analysis and low-depth whole-genome sequencing (CNV-seq). Quantitative fluorescence PCR (QF-PCR) was used to detect the sex-determining region Y (SRY) gene and azoospermia factor (AZF) on the Y chromosome, while fluorescence in situ hybridization (FISH) was employed to determine the location of the SRY gene. Whole exome sequencing (WES) was performed for genetic testing, and Sanger sequencing was used for familial validation of the candidate variants. The study procedure and protocol were approved by the Medical Ethics Committee of Tianjin Medical University General Hospital (Ethics No.: IRB2024-WZ-006).
RESULTS:
Case 1 had a karyotype of 45,X[22]/46,XY[8], with CNV-seq indicating a mosaic deletion of 7.44 Mb (copy number = 0.2) at Yp11.31-p11.2, a mosaic deletion of 5.32 Mb (copy number = 0.3) at Yq11.1-q11.221, and a deletion of 10.26 Mb (copy number = 0) at Yq11.221-q11.23. Y chromosome microdeletion analysis showed SRY and AZFa (+), AZFb+c (-). Case 2 had a karyotype of 45,X[12]/46,X,del(X)(q26.3)[18], with CNV-seq indicating a mosaic deletion of 132.62 Mb (copy number = 1.4) at Xp22.33-q26.3 and a deletion of 19.62 Mb (copy number = 1) at Xq26.3-q28. Case 3 had a karyotype of 46,XX, with CNV-seq showing two copies of the X chromosome and no Y chromosome. Y chromosome microdeletion analysis showed SRY (+) and AZFa+b+c (-), and FISH confirmed a translocation of the SRY gene to the terminal end of the short arm of the X chromosome. Case 4 had a karyotype of 46,XY, with CNV-seq showing one copy each of the X and Y chromosomes. Y chromosome microdeletion analysis showed SRY(+) and AZFa+b+c (+), and WES revealed a c.1103del variant in the AR gene (maternal origin), which was classified as a pathogenic variant based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) (PVS1+PP1+PM2_Supporting).
CONCLUSION
The combined application of multiple detection techniques such as chromosomal karyotyping analysis, CNV-seq, QF-PCR, and WES can identify the genetic etiology of DSD patients, providing a basis for clinical consultation and treatment plan formulation.
Humans
;
Male
;
Female
;
Chromosomes, Human, Y/genetics*
;
Disorders of Sex Development/genetics*
;
Sex-Determining Region Y Protein/genetics*
;
Karyotyping
;
In Situ Hybridization, Fluorescence
;
Exome Sequencing
;
Adult
;
Child
6.Analysis of false-negative cases by Optical genome mapping and a literature review.
Junrong ZHANG ; Min SU ; Yuquan ZHANG ; Jianlin ZHANG
Chinese Journal of Medical Genetics 2025;42(11):1288-1294
OBJECTIVE:
To explore the reasons for false negative results by Optical genome mapping (OGM) analysis of three cases and propose strategies for handling them.
METHODS:
Three patients presented at the Affiliated Hospital of Nantong University between July 2022 and July 2024 were selected as study subjects. The patients included a 37-year-old female with two miscarriages, a 1.5-year-old boy with delayed motor development, and a 35-year-old male whose son had intellectual disability. The patients had undergone comprehensive evaluation with chromosomal karyotyping analysis, single nucleotide polymorphism microarray (SNP array) assay, fluorescence in situ hybridization (FISH), and methylation-specific multiple ligation-dependent probe amplification (MS-MLPA). A retrospective analysis was also carried out on the results of OGM testing. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2020-K004).
RESULTS:
The chromosomal karyotype of patient 1 was 46,XX,4qs, and no abnormality was found by SNP array, FISH, and OGM testing. Patient 2 had a normal chromosomal karyotype, and SNP array analysis did not reveal any copy number abnormalities of chromosomal fragments but the presence of a homozygous region of approximately 79.58 Mb at 15q11.2-q26.3 (chr15: 22817871_102397317). MS-MLPA detection indicated that the copy number of the 15q11.2-q13 region was 2, and the degree of methylation was relatively high (average ratio = 1.0). OGM detection confirmed the presence of approximately 67.97 Mb of homozygosity in the chr15:33814680_101787650 [hg38] region of 15q14-q26.3. Patient 3 had a chromosomal karyotype of 46,XY,t(9;14)(q13;q11.2). No abnormality was found by OGM testing for patients 1 and 3.
CONCLUSION
As a novel cytogenetic technique, OGM can achieve high-resolution and high-precision analysis for numerical and structural genomic abnormalities. Nevertheless, it also has certain limitations, as its false negative results are related to factors such as the type of genomic variation, the chromosomal regions involved in the variation, the type of disease, and the version of human reference genome. Currently, it cannot be used as an independent method for the diagnosis of genetic diseases.
Humans
;
Male
;
Female
;
Adult
;
Polymorphism, Single Nucleotide/genetics*
;
Karyotyping
;
Chromosome Mapping/methods*
;
Infant
;
False Negative Reactions
;
In Situ Hybridization, Fluorescence
7.Genetic analysis of a phenotypically normal male with SRY gene-positive 46,XX/46,XY tetrameric chimerism.
Weiguo ZHANG ; Mengxue WU ; Zhi YANG ; Feiyan PAN ; Zhizhi HE ; Yiyang ZHU
Chinese Journal of Medical Genetics 2025;42(12):1502-1507
OBJECTIVE:
To investigate the clinical characteristics and genetic etiology of a male with a normal phenotype and SRY gene-positive 46,XX/46,XY tetrazoospermia chimerism.
METHODS:
A male patient with an abnormal peripheral blood chromosomal karyotype detected at the Infertility Center of Taizhou Hospital of Zhejiang Province on December 2, 2013 was selected as the study subject. Peripheral venous blood samples were collected from the proband and his family members, together with a semen sample from the proband. Chromosomal karyotype analysis, red blood cell blood group identification, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH), sex-determining region Y (SRY) gene detection, and short tandem repeat (STR) microsatellite marker analysis were performed on the peripheral venous blood sample from the proband. Routine semen analysis, sperm FISH, and STR testing were also conducted. STR verification was performed on both parents. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: k20201009).
RESULTS:
The proband, a 37-year-old male, had normal secondary sexual characteristics and external genitalia development. The chromosomal karyotype of his peripheral blood sample was 46,XX[94]/46,XY[6]. ABO blood group typing was positive for Rh(D) type O and negative for Rh(D) type A, indicating the presence of two red blood cell populations. CMA result was arr[GRCh37](1-22)×2,(XX)×1. Autosomal and X chromosome SNP genotypes were BB-BB, AB-AB, and AA-AA, making it impossible to identify homozygous/heterozygous chimerism. FISH detection of interphase nuclei showed nuc ish XX[92]/XY[8]. Testing of the SRY gene was positive. STR analysis showed a single X peak (no Y peak) at the AMEL locus, 10/12 at the Penta D locus, and no third allele at other loci. Routine semen analysis were normal. Sperm FISH detection showed haploid nuclei nuc ish X[53]/Y[47]. Sperm STR analysis revealed an X/Y bimodal distribution at the AMEL locus and a 9/14 distribution at the Penta D locus, with no third allele observed at other loci. Above results suggested that the proband's blood and germ cell lines had originated from a heterozygous chimera formed by the fusion of two different zygotes.
CONCLUSION
Combined genetic techniques confirmed that the proband's peripheral blood AMEL genotype is X/X, while the sperm is X/Y. The Penta D locus showed a bi-allelic heterozygous pattern of 10/12 in the peripheral blood sample and 9/14 in the sperm sample, suggesting that the proband is a tetrazygotic chimera resulted from the fusion of 46,XX/46,XY zygotes.
Humans
;
Male
;
Adult
;
Chimerism
;
Microsatellite Repeats
;
Sex-Determining Region Y Protein/genetics*
;
Phenotype
;
Genes, sry
;
In Situ Hybridization, Fluorescence
;
Karyotyping
8.Application value of pediatric sepsis-induced coagulopathy score and mean platelet volume/platelet count ratio in children with sepsis.
Jie HAN ; Xifeng ZHANG ; Zhenying WANG ; Guixia XU
Chinese Critical Care Medicine 2025;37(4):361-366
OBJECTIVE:
To investigate the application value of pediatric sepsis-induced coagulation (pSIC) score and mean platelet volume/platelet count (MPV/PLT) ratio in the diagnosis of pediatric sepsis and the determination of critical pediatric sepsis.
METHODS:
A retrospective cohort study was conducted, selecting 112 children with sepsis (sepsis group) admitted to pediatric intensive care unit (PICU) of Liaocheng Second People's Hospital from January 2020 to December 2023 as the study objects, and 50 children without sepsis admitted to the pediatric surgery department of our hospital during the same period for elective surgery due to inguinal hernia as the control (control group). The children with sepsis were divided into two groups according to the pediatric critical case score (PCIS). The children with PCIS score of ≤ 80 were classified as critically ill group, and those with PCIS score of > 80 was classified as non-critically ill group. pSIC score, coagulation indicators [prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (APTT), and fibrinogen (FIB)], and platelet related indicators (PLT, MPV, and MPV/PLT ratio) were collected. Pearson correlation method was used to analyze the correlation between pSIC score and MPV/PLT ratio as well as their correlation with coagulation indicators. Multivariate Logistic regression analysis was used to screen the independent risk factors for pediatric sepsis and critical pediatric sepsis. Receiver operator characteristic curve (ROC curve) was drawn to evaluate the application value of the above independent risk factors on the diagnosis of pediatric sepsis and the determination of critical pediatric sepsis.
RESULTS:
112 children with sepsis and 50 children without sepsis were enrolled in the final analysis. pSIC score, PT, INR, APTT, FIB, MPV, and MPV/PLT ratio in the sepsis group were significantly higher than those in the control group [pSIC score: 0.93±0.10 vs. 0.06±0.03, PT (s): 14.76±0.38 vs. 12.23±0.15, INR: 1.26±0.03 vs. 1.06±0.01, APTT (s): 40.08±0.94 vs. 32.47±0.54, FIB (g/L): 3.51±0.11 vs. 2.31±0.06, MPV (fL): 8.86±0.14 vs. 7.62±0.11, MPV/PLT ratio: 0.037±0.003 vs. 0.022±0.001, all P < 0.01], and PLT was slightly lower than that in the control group (×109/L: 306.00±11.01 vs. 345.90±10.57, P > 0.05). Among 112 children with sepsis, 46 were critically ill and 66 were non-critically ill. pSIC score, PT, INR, APTT, MPV, and MPV/PLT ratio in the critically ill group were significantly higher than those in the non-critically ill group [pSIC score: 1.74±0.17 vs. 0.36±0.07, PT (s): 16.55±0.80 vs. 13.52±0.23, INR: 1.39±0.07 vs. 1.17±0.02, APTT (s): 43.83±1.72 vs. 37.77±0.95, MPV (fL): 9.31±0.23 vs. 8.55±0.16, MPV/PLT ratio: 0.051±0.006 vs. 0.027±0.001, all P < 0.05], PLT was significantly lower than that in the non-critically ill group (×109/L: 260.50±18.89 vs. 337.70±11.90, P < 0.01), and FIB was slightly lower than that in the non-critically ill group (g/L: 3.28±0.19 vs. 3.67±0.14, P > 0.05). Correlation analysis showed that pSIC score was significantly positively correlated with MPV/PLT ratio and coagulation indicators including PT, APTT and INR in pediatric sepsis (r value was 0.583, 0.571, 0.296 and 0.518, respectively, all P < 0.01), and MPV/PLT ratio was also significantly positively correlated with PT, APTT and INR (r value was 0.300, 0.203 and 0.307, respectively, all P < 0.05). Multivariate Logistic regression analysis showed that pSIC score and MPV/PLT ratio were independent risk factors for pediatric sepsis and critical pediatric sepsis [pediatric sepsis: odds ratio (OR) and 95% confidence interval (95%CI) for pSIC score was 14.117 (4.190-47.555), and the OR value and 95%CI for MPV/PLT ratio was 1.128 (1.059-1.202), both P < 0.01; critical pediatric sepsis: the OR value and 95%CI for pSIC score was 8.142 (3.672-18.050), and the OR value and 95%CI for MPV/PLT ratio was 1.068 (1.028-1.109), all P < 0.01]. ROC curve analysis showed that pSIC score and MPV/PLT ratio had certain application value in the diagnosis of pediatric sepsis [area under the ROC curve (AUC) and 95%CI was 0.754 (0.700-0.808) and 0.720 (0.643-0.798), respectively] and the determination of critical pediatric sepsis [AUC and 95%CI was 0.849 (0.778-0.919) and 0.731 (0.632-0.830)], and the combined AUC of the two indictors was 0.815 (95%CI was 0.751-0.879) and 0.872 (95%CI was 0.806-0.938), respectively.
CONCLUSIONS
pSIC score and MPV/PLT ratio have potential application value in the diagnosis of pediatric sepsis and the determination of critical pediatric sepsis, and the combined application of both is more valuable.
Humans
;
Sepsis/complications*
;
Platelet Count
;
Mean Platelet Volume
;
Retrospective Studies
;
Child
;
Blood Coagulation Disorders/diagnosis*
;
Intensive Care Units, Pediatric
;
Male
;
Female
;
Partial Thromboplastin Time
;
Child, Preschool
;
Blood Coagulation
;
International Normalized Ratio
;
Infant
9.Ocular cicatricial pemphigoid in a healthy elderly male Filipino patient.
Jose Christopher C. TESORERO III ; George Michael N. SOSUAN ; Ruben Lim BON SIONG
Acta Medica Philippina 2025;59(18):117-123
Ocular cicatricial pemphigoid (OCP) is a chronic bilateral, blinding, cicatrizing form of conjunctivitis with relapsing and remitting periods. It has strong evidence for an immune type II hypersensitivity that leads to subconjunctival fibrosis and extensive systemic bullae formation. To the best knowledge of the authors, this is the first reported case of direct immunofluorescence (DIF) assay-proven OCP in an elderly Filipino man.
A 68-year-old male presented with bilateral corneal conjunctivalization, symblepharon, ectropion, conjunctival hyperemia testing positive with conjunctival biopsy for basement membrane antibodies with DIF for the left eye, while turning out negative for the right eye. He was managed as a case of OCP, both eyes, and was given topical steroids and antibiotics. Oral Dapsone was started by Dermatology and Rheumatology Services.
OCP is a rare autoimmune and blinding disease. Early diagnosis and prompt treatment are vital as ocular complications permanently affect the quality of life of patients as seen in our patient. DIF assay remains the gold-standard for diagnosis. Systemic immunosuppression is the mainstay of treatment. Adjunctive supportive topical medication may be given to alleviate ocular discomfort. A multidisciplinary approach is essential to provide holistic care to each patient.
Human ; Male ; Aged: 65-79 Yrs Old ; Ocular Cicatricial Pemphigoid ; Pemphigoid, Benign Mucous Membrane ; Direct Immunofluorescence Assay ; Fluorescent Antibody Technique, Direct
10.Efficacy and safety of avatrombopag in the treatment of thrombocytopenia after umbilical cord blood transplantation.
Aijie HUANG ; Guangyu SUN ; Baolin TANG ; Yongsheng HAN ; Xiang WAN ; Wen YAO ; Kaidi SONG ; Yaxin CHENG ; Weiwei WU ; Meijuan TU ; Yue WU ; Tianzhong PAN ; Xiaoyu ZHU
Chinese Medical Journal 2025;138(9):1072-1083
BACKGROUND:
Delayed platelet engraftment is a common complication after umbilical cord blood transplantation (UCBT), and there is no standard therapy. Avatrombopag (AVA) is a second-generation thrombopoietin (TPO) receptor agonist (TPO-RA) that has shown efficacy in immune thrombocytopenia (ITP). However, few reports have focused on its efficacy in patients diagnosed with thrombocytopenia after allogeneic hematopoietic stem cell transplantation (allo-HSCT).
METHODS:
We conducted a retrospective study at the First Affiliated Hospital of the University of Science and Technology of China to evaluate the efficacy of AVA as a first-line TPO-RA in 65 patients after UCBT; these patients were compared with 118 historical controls. Response rates, platelet counts, megakaryocyte counts in bone marrow, bleeding events, adverse events and survival rates were evaluated in this study. Platelet reconstitution differences were compared between different medication groups. Multivariable analysis was used to explore the independent beneficial factors for platelet implantation.
RESULTS:
Fifty-two patients were given AVA within 30 days post-UCBT, and the treatment was continued for more than 7 days to promote platelet engraftment (AVA group); the other 13 patients were given AVA for secondary failure of platelet recovery (SFPR group). The median time to platelet engraftment was shorter in the AVA group than in the historical control group (32.5 days vs . 38.0 days, Z = 2.095, P = 0.036). Among the 52 patients in the AVA group, 46 achieved an overall response (OR) (88.5%), and the cumulative incidence of OR was 91.9%. Patients treated with AVA only had a greater 60-day cumulative incidence of platelet engraftment than patients treated with recombinant human thrombopoietin (rhTPO) only or rhTPO combined with AVA (95.2% vs . 84.5% vs . 80.6%, P <0.001). Patients suffering from SFPR had a slightly better cumulative incidence of OR (100%, P = 0.104). Patients who initiated AVA treatment within 14 days post-UCBT had a better 60-day cumulative incidence of platelet engraftment than did those who received AVA after 14 days post-UCBT (96.6% vs . 73.9%, P = 0.003).
CONCLUSION
Compared with those in the historical control group, our results indicate that AVA could effectively promote platelet engraftment and recovery after UCBT, especially when used in the early period (≤14 days post-UCBT).
Humans
;
Female
;
Male
;
Thrombocytopenia/etiology*
;
Adult
;
Retrospective Studies
;
Cord Blood Stem Cell Transplantation/adverse effects*
;
Middle Aged
;
Adolescent
;
Young Adult
;
Thiazoles/adverse effects*
;
Platelet Count
;
Receptors, Thrombopoietin/agonists*
;
Child
;
Thiophenes


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