1.The Association of Periodontal Disease and Systemic Conditions among Filipino Patients in a University Dental Clinic: A Retrospective Case-control Study.
Zen Alfred B. NEMENZO ; Ma. Celina U. GARCIA
Acta Medica Philippina 2026;60(3):70-77
OBJECTIVES
A growing body of evidence points to a positive association between periodontitis and
various systemic diseases, including cardiovascular diseases (CVD), hypertension, and rheumatoid arthritis. However,
there is limited data on the prevalence and odds of having systemic conditions among Filipino periodontal patients.
Thus, this study aimed to determine the association of periodontal disease with systemic conditions among Filipino
patients at a university dental clinic.
The periodontal and medical charts of all patients who underwent periodontal consult at a university
dental clinic within two academic years were reviewed. Periodontal diagnoses which had originally been assigned
using the 1999 classification of periodontal diseases were reclassified based on the 2018 European Federation
of Periodontology-American Academy of Periodontology classification. Listed medical conditions in the patients’
charts were self-reported. The prevalence of various systemic conditions in 715 periodontitis cases was compared
to that of 834 control patients without periodontitis. Fisher’s exact test was performed to evaluate the difference
in the prevalence of comorbidities between groups, while adjusted odds ratios (AOR) were computed using logistic
regression analysis, accounting for age, sex, educational attainment, and smoking status.
The prevalence of having at least one systemic condition was significantly higher among periodontitis patients
(44.5%) compared to non-periodontitis patients (36.3%). Compared to controls, a significantly higher number of
periodontitis cases had two systemic comorbidities (P=0.001). The prevalence of hypertension (18.6% versus 5.04%),
CVD including hypertension (20.42% versus 6.95%), arthritis (9.37% versus 3.0%), and diabetes mellitus (5.73% versus
0.84%) were all significantly higher in patients with periodontitis compared to non-periodontitis controls.
The odds of having CVD (AOR=1.81), hypertension (AOR=2.14) and diabetes (AOR=3.05) were higher in periodontitis cases. Meanwhile, the prevalence of asthma (9.23% versus 5.31%), respiratory diseases including asthma (12.95% versus 8.25%), and allergies (18.82% versus 13.71%) were significantly higher in non- periodontitis patients compared to periodontitis cases.
Periodontitis patients were more likely to present with CVD, hypertension, and diabetes mellitus. On the other hand, no association was found between periodontitis and respiratory diseases, as well as between periodontitis and asthma.
Human ; Male ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Aged: 65-79 Yrs Old ; Regression (psychology) ; Respiratory Tract Diseases ; Regression Analysis ; Periodontal Diseases ; Cardiovascular Diseases
2.Knowledge, Attitude, and Practices Assessment of Unvaccinated Adult In-patients Regarding COVID-19 Vaccination in a Tertiary Hospital in Nueva Vizcaya, Philippines: A Cross-sectional Study.
Charity May B. PAZZIWAGAN ; Emmeline B. BORILLO
Acta Medica Philippina 2026;60(3):78-87
OBJECTIVES
his quantitative cross-sectional study aimed to determine the level of knowledge, attitude, and practices
regarding COVID-19 vaccination of unvaccinated adult patients admitted at Region II Trauma and Medical Center
(R2TMC). This may help determine the knowledge gap regarding COVID-19 vaccination, address it, and to achieve
the goal to vaccinate all eligible Filipinos. Furthermore, this may also be a springboard for future researches and
management regarding novel infections needing new vaccinations.
Collected data from the sample size of 197 using the formula for finite population with 95% confidence
level, population proportion of 50%, population size of 400, allowing 5% margin of error were summarized in a
Microsoft excel database and tables, then were analyzed using Jamovi version 2.6.22 software. Frequency, mean,
and standard deviation were calculated to measure the knowledge, attitude, and practices; Pearson correlation and
Kendall’s Tau b correlation for its relationship.
There is moderate level of knowledge (MS: 9.80-11.8), a positive attitude (MR: 2.35-2.60), and good preventive
practices (MS: 12.00-13.00) regarding SARS-CoV-2 (COVID-19) vaccination among the unvaccinated adult in-patients
of R2TMC post-pandemic. Knowledge, attitudes, and practices statistically differed (pCONCLUSION
There is a significant correlation among the knowledge of the respondents about COVID-19 vaccination,
their attitude towards it, and their practices, implying that promoting preventive behaviors toward COVID-19 would
require promoting both knowledge and efficacy beliefs among the public.
Human ; Bacteria ; Male ; Female ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Wounds And Injuries ; Population Density ; Cross-sectional Studies ; Forecasting ; Sars-cov-2 ; Sars Virus ; Covid-19
3.Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I.
Bingjie HU ; Xianhong DING ; Yang LU ; Hongliang CHEN ; Shuaishuai CHEN ; Mengyi XU ; Yicheng FANG ; Bo SHEN
Chinese Journal of Medical Genetics 2026;43(1):19-30
OBJECTIVE:
To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1).
METHODS:
Twenty two NF1 patients who presented at Enze Medical (Center) Group in Taizhou between 2018 and 2024 were selected as the study subjects. Clinical phenotype and family history were collected for the patients. Whole exome sequencing (WES) was carried out for the 22 probands to screen the variants of NF1 gene. Candidate variants were verified by Sanger sequencing of their family members. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: K20230902).
RESULTS:
The 22 probands were diagnosed between the age of 5 months to 47 years old, and have all shown cafe au lait spots on their skin. Seventeen patients exhibited the phenotype at birth, and 11 had various degrees of neurofibromatosis. Among them, probands 1 and 13 underwent surgical resection of the tumor but had recurred, while proband 12 had amputation due to the huge size and serious impact of the neurofibroma and had no recurrence. Five patients had various degrees of scoliosis. In total 22 germline mutations and one somatic mutation were identified among the 22 families, with 5 variants unreported previously, including 1 nonsense mutation c.1603C>T (Q535*), 3 frameshift mutations [c.7268_7269delCA (Thr2423fs), c.2293del (Arg765Alafs*26), and c.5433_5438delinsGC (Phe1812ArgfsTer50)], and 1 deletion involving exons 41-44 of the NF1 gene and adjacent introns. Proband 13 was found to harbor germline mutation c.6796C>T (Gln2266Ter) and somatic mutation c.1019_1020del (Ser340Cysfs Ter12) in the peripheral blood and tumor tissue, respectively. Among the 22 NF1 probands, 6 had received treatment due to severe illness. Proband 1 had tumor resection in the right upper limb, but was found to have malignant lung tumor and died during follow-up. Proband 12 had multiple recurrence of neurofibroma in the left ring finger. Proband 4 underwent spinal correction surgery due to severe scoliosis. Proband 11 had died due to a central nervous system disease. Among the 22 germline mutations, 6 had led to the occurrence of truncated proteins, which may have a more severe impact on the phenotype.
CONCLUSION
This study investigated the genetic variants and clinical phenotypes of 22 NF1 families and identified 5 novel variants of the NF1 gene, which has expanded the genotypic and phenotypic spectra of the NF1. Preliminary studies have identified an association between truncated mutations, young age, and severe phenotypes, which may provide important clues for prognosis evaluation. For the clinical diagnosis and treatment of NF1, it is necessary to consider the phenotypic characteristics and genetic testing in combination with genetic counseling and long-term follow-up.
Humans
;
Neurofibromatosis 1/pathology*
;
Male
;
Female
;
Pedigree
;
Adult
;
Child
;
Child, Preschool
;
Middle Aged
;
Adolescent
;
Infant
;
Young Adult
;
Neurofibromin 1/genetics*
;
Phenotype
;
Asian People/genetics*
;
Mutation
;
Exome Sequencing
;
East Asian People
4.Association of microRNA gene polymorphisms with risk, clinicopathological characteristics and therapeutical efficacy among Chinese patients with Crohn's disease.
Yanlun ZHANG ; Xiaoxiao SHAO ; Daopo LIN ; Yuan XU ; Guolong MA ; Yi JIANG
Chinese Journal of Medical Genetics 2026;43(2):111-122
OBJECTIVE:
To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the response to ustekinumab (UST) treatment among CD patients.
METHODS:
From January 2018 to February 2025, 312 patients diagnosed with CD and 527 gender- and age-matched normal controls were selected as the study subjects at the Department of Gastroenterology of the Second Affiliated Hospital of Wenzhou Medical University. Genotypes of miR-155 (rs767649), miR-21 (rs13137), miR-124 (rs531564) and miR-146a (rs57095329, rs2431697) were determined with multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) technique. The patients were divided into different subgroups according to the Montreal Classification Criteria for CD. Harvey-Bradshaw index (HBI) and simplified endoscopic score for CD were respectively applied to assess the clinical and endoscopic disease activity of CD. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between the two groups, as well as their influence on the clinicopathological characteristics of CD patients. Among them, 185 CD patients received first-line UST treatment, with the first sufficient dose of UST (6 mg/kg) administered intravenously. Based on the changes in HBI at week 8, the response of patients to UST treatment was evaluated. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between clinically responsive group (the decline of HBI ≥ 3 scores compared to week 0) and non-responsive group. All of the P values were adjusted by Bonferroni correction. This study has been approved by the Medical Ethics Committee of the Second Affiliated Hospital of Wenzhou Medical University (Ethics No.: 2025-K-12-01).
RESULTS:
No significant difference was found in the distribution of miRNA gene polymorphisms between the two groups (all P > 0.05). The variant genotype (TC+CC) of rs2431697 was more common among patients with terminal ileal-type and ileocolic-type CD than those with the colonic-type CD (OR = 4.98, 95%CI: 1.49~16.68, P = 0.009, adjusted P = 0.045). However, the opposite conclusion was drawn for the homozygous variant genotype (TT) of rs13137 and variant genotype (GC+CC) of rs531564 (OR = 0.37, 95%CI: 0.18~0.76, P = 0.007, adjusted P = 0.035; OR = 0.36, 95%CI: 0.18~0.73, P = 0.004, adjusted P = 0.020). Compared to patients with non-stricturing and penetrating CD, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common in those with stricturing and penetrating CD (OR = 4.06, 95%CI: 2.46~6.71, P < 0.001, adjusted P < 0.005; OR = 3.12, 95%CI: 2.06~4.73, P < 0.001, adjusted P < 0.005). However, the frequencies of variant genotype (AT+TT) and variant allele (T) of rs13137 were lower among patients with stricturing and penetrating CD than in those without (OR = 0.25, 95%CI: 0.15~0.41, P < 0.001, adjusted P < 0.005; OR = 0.45, 95%CI: 0.33~0.63, P < 0.001, adjusted P < 0.005). Additionally, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common among those with moderately to severely endoscopic activity than those with mildly endoscopic activity (OR = 2.01, 95%CI: 1.19~3.42, P = 0.009, adjusted P = 0.045; OR = 2.04, 95%CI: 1.28~3.25, P = 0.003, adjusted P = 0.015). In total 117 cases had shown clinical response by week 8, while 68 cases showed no response. Compared with t he clinically non-responsive group, the variant genotype (TC+CC) and variant allele (C) of rs2431697 were more common in the clinically responsive group (OR = 3.86, 95%CI: 1.80~8.32, P = 0.001, adjusted P = 0.005; OR = 2.60, 95%CI: 1.34~5.06, P = 0.005, adjusted P = 0.025). However, the variant genotype (TA+AA) of rs767649 was less frequent in the clinically responsive group than the non-responsive group (OR = 0.40, 95%CI: 0.21~0.74, P = 0.004, adjusted P = 0.020). The same conclusion was drawn for the variant genotype (AT+TT) and variant allele (T) of rs13137 when the clinically responsive group was compared with the non-responsive group (OR = 0.30, 95%CI: 0.14~0.63, P = 0.002, adjusted P = 0.010; OR = 0.54, 95%CI: 0.35~0.82, P = 0.005, adjusted P = 0.025).
CONCLUSION
Genetic polymorphisms of miRNAs are not associated with the risk of developing CD. The miR-146a (rs57095329) variant may increase the endoscopic activity of CD and the risk for stenosis or penetration. However, the miR-146a (rs2431697) variant may increase the risk of ileal involvement. The miR-21 (rs13137) variant may reduce the risk of ileal involvement and the risk of stenosis or penetration. The miR-124 (rs531564) variant may reduce the risk of ileal involvement. Among patients receiving UST treatment, the miR-146a (rs2431697) variant may increase the clinical response by week 8. However, both the miR-155 (rs767649) and miR-21 (rs13137) variants may decrease the clinical response by week 8.
Humans
;
MicroRNAs/genetics*
;
Crohn Disease/pathology*
;
Male
;
Female
;
Adult
;
Polymorphism, Single Nucleotide
;
Middle Aged
;
Asian People/genetics*
;
Genetic Predisposition to Disease
;
Genotype
;
Young Adult
;
Case-Control Studies
;
Adolescent
;
East Asian People
5.Analysis of a three-generation Chinese pedigree affected with Hereditary spastic paraplegia type 3A due to variant of ATL1 gene.
Zhenhua GONG ; Fengjuan HE ; Changshui CHEN ; Yu AN
Chinese Journal of Medical Genetics 2026;43(2):129-135
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with Hereditary spastic paraplegia type 3A (SPG3A) and the genotype-phenotype correlation.
METHODS:
A three-generation pedigree presented at Huantai Maternal and Child Health Care Hospital in March 2021 was selected as the study subject. Whole-exome sequencing (WES) and pedigree analysis was carried out. Candidate variant was validated by Sanger sequencing of the members from the pedigree. Haplotype analysis was used to trace the origin of the variant, and pathogenicity was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-12).
RESULTS:
A c.1024C>T (p.Pro342Ser) variant of the ATL1 was identified in the four affected members, including the proband, but none of the three unaffected relatives. Haplotype analysis suggested that the variant was derived from the proband's mother and has co-segregated with the disease phenotype. Based on the guidelines of the ACMG, it was classified as likely pathogenic.
CONCLUSION
The ATL1 c.1024C>T (p.Pro342Ser) variant probably underlay the pathogenesis in this pedigree. Above finding has enriched the mutational spectrum of ATL1 and phenotypic spectrum of SPG3A in the Chinese population, and enabled genetic counseling for this pedigree.
Humans
;
Pedigree
;
Spastic Paraplegia, Hereditary/genetics*
;
Male
;
Female
;
Asian People/genetics*
;
Adult
;
Haplotypes
;
Membrane Proteins/genetics*
;
Exome Sequencing
;
GTP-Binding Proteins/genetics*
;
Mutation
;
Middle Aged
;
China
;
Genetic Association Studies
;
East Asian People
6.From prenatal screening to passive diagnosis in adulthood: Phenotypic association analysis of 224 patients with Klinefelter syndrome.
Huanhuan ZHANG ; Yong WU ; Yamei XIE ; Qingsong LIU
Chinese Journal of Medical Genetics 2026;43(3):188-196
OBJECTIVE:
To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention.
METHODS:
A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group included 33,302 pregnant women who underwent amniocytic karyotyping due to advanced maternal age, abnormal ultrasound findings, or high-risk non-invasive prenatal testing (NIPT). The postnatal diagnosis group included 52,101 patients who underwent peripheral blood karyotyping due to primary infertility, abnormal external genitalia, or growth and developmental abnormalities. Additionally, medical histories of adult diagnosed patients were reviewed retrospectively to identify early occult symptoms. This study was approved by the Medical Ethics Committee of Chengdu Women's and Children's Central Hospital (Ethics No.: LCYJ-2025-030).
RESULTS:
In the prenatal group, 96 cases of KS were detected (detection rate 0.29%). The primary indications for referral were NIPT indicating sex chromosome abnormalities (45.83%), advanced maternal age (16.66%), and ultrasound abnormalities (17.70%). In the postnatal group, 128 cases of KS were detected (detection rate 0.25%). Clinical presentations were primarily primary infertility/azoospermia (77.34%), and the patients were predominantly adults (84.40%). Retrospective analysis revealed that adult patients presented with specific physical signs that had been overlooked during childhood.
CONCLUSION
As KS lacks typical early clinical manifestations, diagnosis is often delayed until adulthood when reproductive needs arise, showing a pattern of "passive detection" and resulting in missed opportunities for optimal intervention. By conducting a comparative analysis of prenatal diagnostic data and postnatal retrospective data, a risk association model linking prenatal screening indications with childhood-specific signs was developed. This study has provided empirical evidence for establishing a multidisciplinary, full life-cycle management system of "screening ~ diagnosis ~ monitoring ~ intervention" helping to shift from "passive detection in adulthood" to "proactive management across the entire life course," and laid a foundation for improving early diagnosis rate and long-term quality of life for patients.
Humans
;
Klinefelter Syndrome/genetics*
;
Female
;
Adult
;
Pregnancy
;
Retrospective Studies
;
Prenatal Diagnosis/methods*
;
Male
;
Phenotype
;
Karyotyping
;
Young Adult
;
Adolescent
;
Middle Aged
7.Analysis of ten cases of Acute lymphoblastic leukemia with non-KMT2A::AFF1 transcriptional variant 11q23 rearrangements.
Yuanyuan WANG ; Shuzhen FU ; Yong SHEN ; Qingxia XU
Chinese Journal of Medical Genetics 2026;43(4):265-272
OBJECTIVE:
To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes.
METHODS:
The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342).
RESULTS:
Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months.
CONCLUSION
The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics*
;
Female
;
Male
;
Myeloid-Lymphoid Leukemia Protein/genetics*
;
Histone-Lysine N-Methyltransferase/genetics*
;
Adult
;
Adolescent
;
Chromosomes, Human, Pair 11/genetics*
;
Child
;
Transcriptional Elongation Factors/genetics*
;
Gene Rearrangement
;
Oncogene Proteins, Fusion/genetics*
;
Retrospective Studies
;
Young Adult
;
Middle Aged
;
Prognosis
;
Child, Preschool
;
DNA-Binding Proteins/genetics*
8.Proximal-type epithelioid sarcoma of the vulva: A case report
Pauline Mae R. Dy ; Erick Martin H. Yturralde ; Jericho Thaddeus P. Luna
Acta Medica Philippina 2025;59(5):82-87
Epithelioid sarcoma is an uncommon mesenchymal malignancy which represents less than 1% of all sarcomas. Rarer still are reports of this tumor initially presenting in the vulva. We report a case of vulvar proximal-type epithelioid sarcoma.
A 52-year-old had a 5-month history of slowly growing papule on the right labia majora. Excision of the mass revealed a tumor composed of large polygonal cells with abundant eosinophilic cytoplasm. An immunohistochemistry panel revealed cytokeratin AE1/AE3 positivity only. She underwent radical vulvectomy with bilateral groin node dissection. The specimen revealed a cream tan, firm, fairly defined mass at the right vulva. Microscopic examination showed a sheet-like growth pattern of large pleomorphic epithelioid cells with large vesicular nuclei and prominent nucleoli. The tumor showed loss of INI1 nuclear expression and absence of CD34 staining. EMA was positive. The case was signed out as proximal-type epithelioid sarcoma of the right vulva. Two months post-operatively, the patient was given concurrent chemotherapy with 5 cycles of cisplatin 40 mg/m2 and 6600 centigray vulvar intensity-modulated radiotherapy. She had no evidence of disease for five months until repeat workup showed tumor recurrence in the perineum. She was subsequently given 6 cycles of gemcitabine 900 mg/m2 and gemcitabine 900 mg/m2 with docetaxel 100 mg/m2. Two months after, repeat workup showed persistent progressive disease in the vulva. She was subsequently given 4 cycles of doxorubicin 60 mg/m2 and is for repeat workup.
The immunohistomorphologic features of this tumor, in addition to its unusual location, present a diagnostic challenge. Clues to the diagnosis include an initial presentation as a soft tissue mass and microscopic features showing the presence of epithelioid to spindle cytomorphology with an infiltrative growth pattern. Immunohistochemistry studies revealing the loss of INI1 nuclear expression and expression of epithelial markers would ultimately establish the diagnosis of this rare clinical entity.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Female Urogenital Diseases ; Vulvar Neoplasms ; Epithelioid Sarcoma
9.Trimethoprim/sulfamethoxazole resistant Burkholderia pseudomallei in a Filipino patient with diabetes mellitus: A case report
Princess Aurea L. Maderazo ; Arthur Dessi E. Roman ; Karla Kristine S. Fernando
Philippine Journal of Internal Medicine 2025;63(1):55-58
BACKGROUND
Melioidosis is an infectious disease caused by Burkholderia pseudomallei. It is endemic in the Philippines and is underreported. Of the reported cases, the most common comorbidity is diabetes mellitus. The increasing cases of antibiotic resistance and the relatively high mortality rate highlights the need for increased awareness among clinicians regarding this disease. We aim to report a case of Burkholderia pseudomallei resistant to trimethoprim/sulfamethoxazole (TMP-SMX), used in its eradication following initial intravenous therapy.
CASE PRESENTATIONA 51-year-old male Filipino with poor health-seeking behavior came with generalized body weakness, weight loss, dysarthria, fever, cough, difficulty breathing, bloatedness, dysuria, joint pains, and bilateral lower extremity hyperpigmented macules for four months. He has diabetes mellitus and hypertension and is a mechanic by trade. Initial workups revealed hemoglobin A1c (HbA1c) of 14.7%, and urinalysis with bacteriuria. Imaging revealed bilateral pneumonia on chest xray, hepatosplenomegaly on whole abdomen ultrasound, and old cerebral infarcts on cranial computed tomography scan (CT scan). Empiric antibiotics for the impression of sepsis from community-acquired pneumonia and urinary tract infection were ertapenem and azithromycin. Upon isolation of Burkholderia pseudomallei from blood cultures, the team shifted to TMP-SMX and ceftazidime for initial therapy of melioidosis. Sensitivity showed resistance to TMP-SMX; hence the team revised the antimicrobials to four weeks of levofloxacin and ceftazidime. After eleven hospital days, the team sent the patient home, clinically improved. The team continued levofloxacin for eradication therapy for three months and the patient responded well.
CONCLUSIONFever with multi-system involvement in a Filipino patient with diabetes mellitus with significant environmental risk factors, poor glycemic control, splenomegaly, and treatment failure with appropriate empiric antibiotic therapy should raise suspicion for melioidosis. It is paramount that antimicrobial resistance be detected and documented upon isolation of Burkholderia pseudomallei, given the high relapse rates and the need for a prolonged duration of treatment.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Melioidosis ; Philippines ; Diabetes Mellitus ; Burkholderia Pseudomallei
10.Atypical metastatic presentation of sporadic clear cell renal cell carcinoma: Anindolent unilateral intranasal mass in a 60-year-old male with recurrent epistaxis
Eldimson Bermudo ; Jon Paolo Tan ; Randell Arias ; Al-zamzam Abubakar
Philippine Journal of Pathology 2025;10(1):37-42
Renal cell carcinoma (RCC) is notorious for its propensity to metastasize even after a prolonged period of remission following nephrectomy. The metastatic spread can occur months or even years after initial treatment, which necessitates a heightened level of clinical awareness and vigilance in patients with a history of renal malignancy, particularly who present with new or unexplained nasal symptoms. Although RCC most commonly metastasize to the lungs, bones and liver, its involvement in the nasal cavity is exceedingly rare, posing significant diagnostic challenges due to the non-specific nature of symptoms. We describe a case of metastatic renal cell clear cell carcinoma presenting with recurrent epistaxis and unilateral nasal obstruction. Immunohistochemistry studies play a crucial role in confirming the diagnosis and ruling out potential differential diagnoses, along with a comprehensive clinical history of the patient.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Clear Cell Renal Cell Carcinoma ; Carcinoma, Renal Cell ; Metastasis ; Neoplasm Metastasis ; Nasal Cavity ; Epistaxis


Result Analysis
Print
Save
E-mail