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.

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.

Objective: This study aimed to determine the demographic profiles of admitted COVID-19 patients, the association of coagulation and platelet tests on COVID-19 severity and compare the coagulation and platelet profile across the spectrum of the disease in terms of severity among adult COVID-19 patients admitted to the Philippine General Hospital from March 2020 to December 2022. : Methodology. Medical records of a sample of adult COVID-19 patients admitted to the emergency room of the Philippine General Hospital from March 2020 to December 2022 were reviewed. The demographics, initial COVID-19 diagnosis and initial coagulation and platelet test results were gathered and tabulated. Comparison of the initial coagulation and initial platelet results were made per disease category. Results: Three hundred eighty-five (385) patients were included; 194 were males, and 191 were females. The mean age of all patients was 56.18 years old. There was a total of 30 patients classified as mild and 105 patients are under moderate category. 141 patients were classified as severe, whereas 109 patients were classified as critical. Platelet count test and Activated Partial Thromboplastin Time (APTT) were mostly normal in all disease categories. Prothrombin time was normal in a majority of patients from the mild and severe categories. INR and D-dimer were all elevated mostly in all disease categories. Conclusion Platelet counts and APTT were mostly normal in all disease categories. Prothrombin time and D-dimer had a significant association with disease severity. Platelet count, APTT and INR did not show significant association with disease severity. Prothrombin time, APTT, INR and D-dimer means had significant differences versus disease categories.
Partial Thromboplastin Time ; OVID-19 ; Patient Acuity

BACKGROUND: The thoracic small biopsy sampling procedure including transbronchial forceps lung biopsy (TBLB) and endobronchial ultrasound transbronchial needle aspiration (EBUS-TBNA) can be accompanied by rapid on-site evaluation (ROSE) of sample material to provide immediate feedback for the proceduralist. The present study aims to investigate the supplemental effect of ROSE smear samples for lung cancer molecular test. METHODS: In a retrospective study, 308 patients admitted to our hospital from August 2020 to December 2022 undergoing diagnostic TBLB and EBUS-TBNA with ROSE and subsequently diagnosed as non-small cell lung cancer (NSCLC) were analyzed. The matched formalin-fixed paraffin-embedding (FFPE) tissue section and ROSE smears for tumor cellularity were compared. DNA yields of smears were determined. Real-time polymerase chain reaction (PCR) and next-generation sequencing (NGS) were performed on adequate smear samples. RESULTS: ROSE smear samples were enriched in tumor cells. Among 308 biopsy samples, 78 cases (25.3%) exhibited inadequate FFPE tissue sections, whereas 44 cases (14.3%) yielded adequate smear samples. Somatic mutations detected in the FFPE tissue section samples were also detected in the matching adequate smear sample. CONCLUSIONS ROSE smear samples of the thoracic small biopsies are beneficial supplemental materials for ancillary testing of lung cancer. Combined use of cytology smear samples with traditional FFPE section samples can enhance the detection rate of informative mutations in patients with advanced NSCLC. We recommend that the laboratory could further evaluate the ROSE cell smears of the patient when FFPE tissue sections are inadequate, and that adequate cell smears can be used as a supplemental source for the molecular testing of NSCLC.
Humans ; Carcinoma, Non-Small-Cell Lung/pathology* ; Lung Neoplasms/pathology* ; Rapid On-site Evaluation ; Retrospective Studies ; Molecular Diagnostic Techniques ; Endoscopic Ultrasound-Guided Fine Needle Aspiration/methods*

Pemphigus foliaceous is a rare autoimmune blistering disease, while psoriasis is a common immune‑mediated inflammatory skin disease. The coexistence of psoriasis and pemphigus foliaceous has rarely been reported. We report a case of a 55‑year‑old Filipino female with an 8‑year history of chronic plaque‑type psoriasis biopsy‑proven. After 5 years, she developed generalized flaccid bullae and crusted erosions over the face, trunk, and extremities, with no mucous membrane involvement. Skin punch biopsy, direct immunofluorescence, and enzyme‑linked immunosorbent assay were consistent with pemphigus foliaceous. The combination of topical corticosteroids and oral methotrexate was selected as the therapeutic approach, leading to a notable improvement in the patient’s condition. This case report underscores the significance of identifying the simultaneous presence of psoriasis alongside autoimmune blistering diseases like pemphigus foliaceous. Examining predisposing and triggering factors, performing re‑biopsy, and further work‑up as the disease evolves may yield more profound insights. Nonetheless, effectively managing this condition poses a significant challenge.
Fluorescent Antibody Technique, Direct ; Methotrexate ; Psoriasis

Background and Objective: Retinoblastoma is one of the most common intraocular cancers among children usually caused by the loss of retinoblastoma protein function. Despite being a highly heritable disease, conventional diagnostic and prognostic methods depend on clinical examination, with limited consideration of cancer genetics in the standard of care. CD133, KRT19, and MUC1 are commonly explored genes for their utility in liquid biopsies of cancer including lung adenocarcinoma. To date, there are few extensive molecular studies on retinoblastoma in Filipino patients. To this end, the study aimed to describe the copy number of CD133, KRT19, and MUC1 in retinoblastoma samples from a Filipino patient and quantitate the respective expression level of these genes. Methods: Hematoxylin & Eosin (H&E) staining was utilized to characterize the retinoblastoma tissue while fluorescence in situ hybridization (FISH) using probes specific to CD133, KRT19, and MUC1 was performed to determine the copy number of genes in retinoblastoma samples from a Filipino patient (n = 1). The gene expression of CD133, MUC1, and KRT19 was quantitated using RT-qPCR. Results: The H&E staining in the retinoblastoma tissue shows poorly differentiated cells with prominent basophilic nuclei. CD133 was approximately 1.5-fold overexpressed in the retinoblastoma tissue with respect to the normal tissue, while MUC1 and KRT19 are only slightly expressed. Multiple intense signals of each probe were localized in the same nuclear areas throughout the retinoblastoma tissue, with high background noise. Conclusion These findings suggest that CD133 is a potential biomarker for the staging and diagnosis of retinoblastoma in Filipino cancer patients. However, further optimization of the hybridization procedures is recommended.
Retinoblastoma ; Biomarkers ; In Situ Hybridization

Lamin B1 (LMNB1) is highly expressed in liver cancer tissues, and its influence and mechanism on the proliferation of hepatocellular carcinoma cells were explored by knocking down the expression of the protein. In liver cancer cells, siRNAs were used to knock down LMNB1. Knockdown effects were detected by Western blotting. Changes in telomerase activity were detected by telomeric repeat amplification protocol assay (TRAP) experiments. Telomere length changes were detected by quantitative real-time polymerase chain reaction (qPCR). CCK8, cloning formation, transwell and wound healing were performed to detect changes in its growth, invasion and migration capabilities. The lentiviral system was used to construct HepG2 cells that steadily knocked down LMNB1. Then the changes of telomere length and telomerase activity were detected, and the cell aging status was detected by SA-β-gal senescence staining. The effects of tumorigenesis were detected by nude mouse subcutaneous tumorigenesis experiments, subsequent histification staining of tumors, SA-β-gal senescence staining, fluorescence in situ hybridization (FISH) for telomere analysis and other experiments. Finally, the method of biogenesis analysis was used to find the expression of LMNB1 in clinical liver cancer tissues, and its relationship with clinical stages and patient survival. Knockdown of LMNB1 in HepG2 and Hep3B cells significantly reduced telomerase activity, cell proliferation, migration and invasion abilities. Experiments in cells and tumor formation in nude mice had demonstrated that stable knockdown of LMNB1 reduced telomerase activity, shortened telomere length, senesced cells, reduced cell tumorigenicity and KI-67 expression. Bioinformatics analysis showed that LMNB1 was highly expressed in liver cancer tissues and correlated with tumor stage and patient survival. In conclusion, LMNB1 is overexpressed in liver cancer cells, and it is expected to become an indicator for evaluating the clinical prognosis of liver cancer patients and a target for precise treatment.
Animals ; Mice ; Telomerase/metabolism* ; Carcinoma, Hepatocellular/genetics* ; Liver Neoplasms/genetics* ; Telomere Shortening ; In Situ Hybridization, Fluorescence ; Mice, Nude ; Telomere/pathology* ; Carcinogenesis

Objective To study the pathological types,expression of mismatch repair protein,human epidermal growth factor receptor 2(HER2),and Pan-TRK,and Epstein-Barr virus(EBV)infection in patients with colorectal cancer resected in Tibet. Methods A total of 79 patients with colorectal cancer resected in Tibet Autonomous Region People's Hospital from December 2013 to July 2021 were enrolled in this study.The clinical and pathological data of the patients were collected.The expression of mismatch repair protein,HER2,and Pan-TRK was detected by immunohistochemical(IHC)staining,and detection of HER2 gene by fluorescence in situ hybridization(FISH)in the patients with HER2 IHC results of 2+ or above.EBV was detected by in situ hybridization with EBV-encoded small RNA. Results A total of 79 colorectal cancer patients were included in this study,with the male-to-female ratio of 1.26:1 and the mean age of(57.06±12.74)years(24-83 years).Among them,4 patients received preoperative neoadjuvant therapy.Colonic cancer and rectal cancer occurred in 57(57/79,72.15%,including 31 and 26 in the right colon and left colon,respectively)and 22(22/79,27.85%)patients,respectively.The maximum diameter of tumor varied within the range of 1-20 cm,with the mean of(6.61±3.33)cm.Among the 79 colorectal cancer patients,75(75/79,94.94%)patients showed adenocarcinoma.Lymph node metastasis occurred in 12(12/21,57.14%)out of the 21 patients with severe tumor budding,13(13/23,56.52%)out of the 23 patients with moderate tumor budding,and 2(2/31,6.45%)out of the 31 patients with mild tumor budding,respectively.The lymph node metastasis rate showed differences between the patients with severe/moderate tumor budding and the patients with mild tumor budding(all P<0.001).The IHC staining showed that mismatch repair protein was negative in 10(10/65,15.38%)patients,including 5 patients with both MSH2 and MSH6 negative,4 patients with both MLH1 and PMS2 negative,and 1 patient with MSH6 negative.Pan-TRK was negative in 65 patients.The IHC results of HER2 showed 0 or 1+ in 60 patients and 2+ in 5 patients.FISH showed no positive signal in the 5 patients with HER2 IHC results of 2+.The detection with EBV-encoded small RNA showed positive result in 1(1/65,1.54%)patient. Conclusions Non-specific adenocarcinoma of the right colon is the most common in the patients with colorectal cancer resected in Tibet,and 15% of the patients showed mismatch repair protein defects.EBV-associated colorectal carcer is rare,Pan-TRK expression and HER2 gene amplification are seldom.The colorectal cancer patients with moderate and severe tumor budding are more likely to have lymph node metastasis.
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Adenocarcinoma ; Biomarkers, Tumor/genetics* ; Colorectal Neoplasms/pathology* ; DNA Mismatch Repair ; DNA-Binding Proteins/genetics* ; Epstein-Barr Virus Infections/diagnosis* ; Herpesvirus 4, Human/metabolism* ; In Situ Hybridization, Fluorescence ; Lymphatic Metastasis ; Tibet ; Young Adult ; Aged, 80 and over

OBJECTIVE: To explore the genetic basis for a Fra(16)(q22)/FRA16B fragile site in a female with secondary infertility. METHODS: The 28-year-old patient was admitted to Chengdu Women's and Children's Central Hospital on October 5, 2021 due to secondary infertility. Peripheral blood sample was collected for G-banded karyotyping analysis, single nucleotide polymorphism array (SNP-array), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH) assays. RESULTS: The patient was found to harbor 5 mosaic karyotypes involving chromosome 16 in a total of 126 cells, which yielded a karyotype of mos 46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71]. No obvious abnormality was found by SNP-array, QF-PCR and FISH analysis. CONCLUSION A female patient with FRA16B was identified by genetic testing. Above finding has enabled genetic counseling of this patient.
Female ; Humans ; In Situ Hybridization, Fluorescence ; Chromosome Fragile Sites ; Karyotyping ; Karyotype ; Infertility

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the prenatal diagnosis of chromosomal mosaicisms. METHODS: A total of 775 pregnant women who had visited the Prenatal Diagnosis Center of Yancheng Maternal and Child Health Care Hospital from January 2018 to December 2020 were selected as study subjects. Chromosome karyotyping analysis and CMA were carried out for all women, and FISH was used to validate the suspected mosaicism cases. RESULTS: Among the 775 amniotic fluid samples, karyotyping has identified 13 mosaicism cases, which yielded a detection rate of 1.55%. Respectively, there were 4, 3, 4 and 2 cases for sex chromosome number mosaicisms, abnormal sex chromosome structure mosaicisms, abnormal autosomal number mosaicisms and abnormal autosomal structure mosaicisms. CMA has only detected only 6 of the 13 cases. Among 3 cases verified by FISH, 2 cases were consistent with the karyotyping and CMA results, and clearly showed low proportion mosaicism, and 1 case was consistent with the result of karyotyping but with a normal result by CMA. Eight pregnant women had chosen to terminate the pregnancy (5 with sex chromosome mosaicisms and 3 with autosomal mosaicisms). CONCLUSION For fetuses suspected for chromosomal mosaicisms, CMA, FISH and G-banding karyotyping should be combined to determine the type and proportion of mosaicisms more precisely in order to provide more information for genetic counseling.
Female ; Pregnancy ; Humans ; Mosaicism ; In Situ Hybridization, Fluorescence ; Chromosome Disorders/genetics* ; Prenatal Diagnosis/methods* ; Chromosome Aberrations ; Sex Chromosome Aberrations ; Microarray Analysis/methods* ; Chromosomes