1.The diagnostic performance of nuchal translucency alone as a screening test for Down syndrome: A systematic review and meta-analysis.
Ma. Sergia Fatima P. SUCALDITO ; John Jefferson V. BESA ; Lia M. PALILEO-VILLANUEVA
Acta Medica Philippina 2025;59(Early Access 2025):1-17
BACKGROUND
Down syndrome or trisomy 21, the most common chromosomal disorder, results from the presence of a third copy of chromosome 21 and manifests as mild to moderate intellectual disability, growth retardation, congenital heart defects, gastrointestinal abnormalities, and characteristic facial features. Several methods have been used to screen for Down syndrome in the prenatal period, such as ultrasound, biomarkers, cell-free DNA testing, and combinations of these tests. A positive result from one or more of these screening tests signals the need for confirmatory karyotyping to clinch the diagnosis. Ultrasound between 11 to 14 weeks of gestation can evaluate nuchal translucency (NT) to screen for Down syndrome. During the second trimester, a triple or quadruple test can also be performed alone or in addition to NT to quantify Down syndrome risk. In limited resource settings however, only the measurement of NT via ultrasound can be performed since biomarker tests are either unavailable or inaccessible. While the diagnostic performance of NT measurement alone has been investigated in several observational studies, there is no consensus on its performance as a sole test to screen for Down syndrome.
OBJECTIVETo determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.
METHODSWe performed a systematic search on the PubMed, ProQuest, and Cochrane Library databases for recent systematic reviews and meta-analyses that addressed the objective. The existing reviews found were then independently appraised by the two reviewers with the AMSTAR-2 checklist. To update the existing reviews, a systematic search was done in the same databases to identify additional primary diagnostic studies, which were appraised using the QUADAS-2 tool. Random-effects univariate meta-analysis and summary receiving operator curve (HSROC) analysis for the outcomes were performed using Review Manager version 5.4 and R version 4.2.2, respectively. Subgroup analysis was performed by stratifying the baseline risk of mothers for fetal anomaly as low- or high-risk. Highrisk mothers were defined as women with risk factors such as advanced age, positive serum screen, presence of other ultrasound anomalies, and history of previous fetus with anomaly.
RESULTSWe found 22 cohort studies (n=225,846) of women at low-risk for fetal anomaly. The pooled sensitivity was 67.8% (95% CI: 61.4%-73.6%, I2=70.4%) and specificity was 96.3% (95% CI: 95.5%-96.9%, I2=96.7%). For low-risk women, the overall certainty of evidence was low, due to different modes of verification and heterogeneity not completely explained by variability in baseline risk or cut-points. Seven studies (n=9,197) were on high-risk women. The pooled sensitivity was 62.2% (95% CI: 54.1%-69.7%, I2=38.8%) and specificity was 96.5% (95% CI: 93.6%-98.1%, I2=95.5%). For women at high-risk, the evidence was rated as moderate due to differential verification.
CONCLUSIONOur analysis showed that NT measured through first-trimester ultrasound is specific for Down syndrome but has low sensitivity. Despite this, it is a useful screening test for Down syndrome in low-resource settings where other strategies may not be available or accessible. Furthermore, interpretation of NT results must take into consideration its limited sensitivity as this may lead to missed cases.
Human ; Nuchal Translucency Measurement ; Down Syndrome ; Sensitivity And Specificity
2.Successful treatment of a patient with neuropsychiatric lupus and triple positive antiphospholipid syndrome with chronic isolated seizure: A case report.
Mark Andrian O. YANO ; Evelyn O. SALIDO
Acta Medica Philippina 2025;59(Early Access 2025):1-4
Neuropsychiatric SLE (NPSLE) comprises the neurologic and psychiatric syndromes observed in patients with SLE after exclusion of other causes. The diagnosis of NPSLE is challenging due to diverse clinical manifestations and absence of laboratory or radiologic biomarkers.
We present the case of a patient with SLE with a chronic isolated seizure and was successfully managed with antiepileptic medication and high-dose corticosteroids.
Seizures may occur as an isolated manifestation of an SLE flare. Ischemic and inflammatory causes of seizure may coexist in active lupus and both should be considered in managing patients. A prompt and holistic workup to rule out metabolic, infectious, and structural neural causes and lupus disease activity of seizures is prudent for patients with SLE.
Human ; Female ; Young Adult: 19-24 Yrs Old ; Antiphospholipid Syndrome ; Seizures
3.A case report of Mega cisterna magna with extra-cranial features of Dandy-Walker Malformation in an adult: Implications for the Dandy-Walker Complex continuum.
Acta Medica Philippina 2025;59(Early Access 2025):1-7
Posterior fossa malformations are rare cyst-like pathologies of the central nervous system. Outcomes of patients with these conditions are largely documented in fetal or early childhood studies as most cases are non-compatible with life. Also, different schemes to categorize these occurrences have been proposed. One classification puts forth that the entities are a continuum of pathologies, called the Dandy Walker Complex, wherein Mega Cisterna Magna is the most benign to Dandy Walker Malformation as the most severe form. We report the first case of a patient with a mixed presentation of Mega Cisterna Magna having extracranial manifestations of Dandy Walker Malformation reaching her adult years. The patient is a 26-year-old female who was apparently well until she presented with recurrent headache and seizure episodes of 2-year duration. She had an unremarkable birth and childhood history, apart from learning difficulties in school. In her adult years, she gave birth to an infant with multiple physical anomalies. She has a maternal uncle with abnormal facie and intellectual disability. Physical examination of the patient exhibited a bulging occiput, hypertelorism, down-slanting palpebral fissures, large globular nose, large ear lobules, high arched palate, and clinodactyly. Neurologic examination was unremarkable. Magnetic resonance imaging confirmed Mega Cisterna Magna and was deemed non-surgical. She remained seizure-free during admission as well as on followup, maintained on Phenytoin. The existence of a Dandy-Walker continuum is still debated, as the link among the disease entities are yet to be established using developmental or genetic studies. This case, however, supports the Dandy-Walker Complex classification by demonstrating a rare combination of Mega Cisterna Magna with features of Dandy-Walker Malformation in an adult. This can contribute to disease definition and eventually to the discovery of the pathobiological mechanisms of posterior fossa cysts, and to appropriate diagnosis and management.
Human ; Female ; Adult: 25-44 Yrs Old ; Dandy-walker Malformation ; Dandy-walker Complex ; Dandy-walker Syndrome ; Rare Diseases
4.Identifying COVID-19 confirmed patients at elevated risk for mortality and need of mechanical ventilation using a novel criteria for Hyperinflammatory Syndrome: A retrospective cohort, single-center, validation study.
Jayvee Rho-an D. DESCALSOTA ; Abdul Walli R. CANA ; Inofel I. CHIN ; Jessie F. ORCASITAS
Acta Medica Philippina 2025;59(3):104-115
BACKGROUND AND OBJECTIVES
A mounting evidence links dysregulated immune response to cases of fatal pneumonia seen in COVID-19 infection. We aimed to validate the COVID-19-associated Hyperinflammatory Syndrome (cHIS) score, a novel clinical tool devised to identify those at risk for adverse outcomes, in a local population and investigate the relationship of cHIS score taken at admission and the risk of mortality and the need of mechanical ventilation.
METHODSThis retrospective cohort study analyzed the sociodemographic, clinical, and laboratory data of 1,881 COVID-19 patients admitted at a tertiary hospital in Davao City, Philippines from January to December 2021. We calculated the cHIS score, composed of six clinical and laboratory criteria from admission, and used multivariate logistic regression to determine the risk of mortality and need of mechanical ventilation.
RESULTSThe cHIS score taken at admission, regardless of cut-off value, was a significant predictor of mortality (OR 0.979 [99% CI 0.894-1.064]) and need of mechanical ventilation (OR 0.586 [99% CI 0.4975-0.6745]). Using the Youden Index, a cut-off cHIS score of 3 or more was a better predictor of mortality (sensitivity, 88.59%; specificity, 71.72%), and a cut-off score of 2 or more was a better predictor of need of mechanical ventilation (sensitivity, 84.02%; specificity, 70.82%) than other cutoff cHIS scores.
CONCLUSIONAmong COVID-19 patients, the cHIS score at admission correlated with the risk of mortality and the need of mechanical ventilation. Cutoff scores of 3 and 2 had the optimal sensitivities and specificities to predict the risk of mortality and the need of mechanical ventilation, respectively.
Human ; Covid-19 ; Inflammation ; Mortality ; Mechanical Ventilation ; Respiration, Artificial ; Cytokine Storm ; Cytokine Release Syndrome
5.Correlation of visual (modified Ferriman–Gallwey scoring) and biochemical evaluation of hirsutism in polycystic ovary syndrome patients in a tertiary hospital: A cross-sectional study
Marth Louie Zorilla Tarroza ; Debby F. Pacquing-Songco ; Brenda Bernadette B. Zamora
Philippine Journal of Obstetrics and Gynecology 2025;49(1):3-9
BACKGROUND
Polycystic ovarian syndrome (PCOS) is a common gynecologic endocrine disorder affecting between 2.2% and 26% of the population. It is typically characterized by hirsutism and signs of ovulatory dysfunction. Hirsutism is defined as the presence of excess body or facial terminal hair growth in females, following a male-like pattern. It is diagnosed using visual assessment methods, such as the modified Ferriman–Gallwey (mFG) scoring system, and biochemical tests, including measurements of total testosterone (tT) and the free androgen index (FAI).
OBJECTIVESThe general objective of the study is to identify the correlation of visual scoring with the biochemical evaluation of hirsutism. Specific objectives include (1) to describe the visual and biochemical scores of hirsutism in PCOS patients and (2) to determine a cutoff score for the visual scoring of hirsutism among Filipinos.
METHODOLOGYThis is a cross-sectional study done in a tertiary hospital. Ethical approval was obtained for this study. Patients who satisfied the inclusion criteria were included in the study. Age, height, weight, body mass index (BMI), and OB score were noted. Visual scoring for hirsutism using the mFG scoring system was performed. Blood extraction was done for testosterone and sex hormone-binding globulin tests. FAI was then computed and correlated with the mFG scores.
RESULTSA total of 52 patients were identified. A positive correlation is noted between the mFG with testosterone and FAI. A positive correlation was also noted between the BMI with testosterone and FAI. An mFG value of >4 is an acceptable cutoff for Filipinos.
CONCLUSIONThe study showed as the mFG score increases, FAI and tT levels also increase. It was also noted that as BMI increases, the FAI and tT levels are also expected to increase. It can also be concluded that a lower mFG cutoff value, >4, is applicable for Filipinos.
Human ; Female ; Hirsutism ; Hyperandrogenism ; Polycystic Ovary Syndrome
6.Factors associated with insulin usage in patients with gestational diabetes mellitus given antenatal corticosteroid.
Ria Breneli A. SUMAMPONG-TIMPAC ; Maria Honolina S. GOMEZ
Journal of Medicine University of Santo Tomas 2025;9(1):1532-1542
INTRODUCTION
Administration of antenatal corticosteroids (ACS) between 24 and 36 weeks of gestation is recommended to pregnant women at risk of preterm delivery to decrease the risk of respiratory distress syndrome, intra-ventricular hemorrhage and neonatal death. However, it may worsen glycemic profile primarily in those with gestational diabetes mellitus (GDM).
OBJECTIVETo determine the effects of ACS on maternal glycemia in Filipino women with GDM and to analyze the factors associated with insulin use or increased insulin requirement.
METHODOLOGYA retrospective study of the medical records of Filipino women with GDM who were admitted and received ACS treatment (betamethasone) between 24- and 36-weeks age of gestation (AOG) for fetal lung maturity from 2017-2019. Clinical characteristics (age, parity, completed ACS dose, AOG at ACS administration and mode of delivery) and glycemic control were retrieved and compared before and after ACS treatment. Data collection began the day or on the day before steroids were given and continued until discharge or delivery.
RESULTSIncluded were 42 pregnant women with GDM. Of these, 28 women with GDM were treated by diet alone (Group A) while 14 women with GDM were started on insulin in addition to diet (Group B). After betamethasone therapy was initiated, only three (Group A1; n=3/28) patients had good glycemic control with diet alone and the rest were given insulin treatment (Group A2; n=25/28). In this subpopulation of Group A2, insulin requirement within 24 hours after ACS was at 0.3 units per kg of body weight. There was a steady increase with maximum requirement observed on day 4 and decreased thereafter to 0.33 units per kg of body weight on day 5. For GDM women in Group B, only three maintained their insulin dose (Group B1; n=3/14) while 11 (Group B2; n=11/14) women with GDM previously on insulin, required further increase in insulin from day 1-2 reaching 140% increase in insulin dose on day 2. Thereafter, there was a gradual decrease of insulin dose almost returning to initial dose on day 5.
Insulin initiation was observed among GDM diet-controlled mothers (Group A) who were given ACS therapy at ≥31 weeks age of gestation. Age, parity, family history of diabetes and mode of delivery did not have significant effects on insulin use nor increased insulin requirement. Fasting capillary glucose (FCG) and one-hour post-prandial capillary glucose (PPCG) were elevated within 24 hours after administration of corticosteroid (betamethasone) in 60%-70% of our population. The FCG values remained elevated on day 2-3 in about 70% of patients. While the first hour PPCG was elevated in 85% of patients on day 2 and remained elevated in 70% of women on day 3-4, it reached 53% on day 5. Insulin requirement among Group B2 reached to 140% increase in insulin dose on day 2 followed by a gradual decrease of insulin dose almost returning to initial dose on day 5.
CONCLUSIONACS administration caused maternal hyperglycemia in Filipino women with GDM during the first 24 hours and lasting up to five days. Both fasting glucose and post-prandial glucose were elevated, hence intensified monitoring of maternal glucose levels and temporary addition or increase of insulin doses may be necessary. The timing (≥31 weeks AOG) of administration of ACS on GDM women was associated with subsequent insulin initiation but only on patients initially controlled on diet alone.
Human ; Female ; Diabetes Mellitus ; Diabetes, Gestational ; Adrenal Cortex Hormones ; Respiratory Distress Syndrome
7.Modified shock index as clinical predictor of in-hospital outcomes in cases of Acute Coronary Syndrome: A retrospective cohort study.
Jilliane ESTRADA ; Timothy Bjorn LAGOS
Philippine Journal of Internal Medicine 2025;63(2):122-129
BACKGROUND
In the Philippines, Acute Coronary Syndrome (ACS) is a major cause of mortality. Recognizing high-risk ACS patients quickly is crucial. The Modified Shock Index (MSI), a concise bedside risk scoring system, may enhance triaging by predicting short-term outcomes, facilitating a more aggressive approach for timely intervention.
OBJECTIVESThe aim of this study is to determine MSI’s predictive value for in-hospital mortality in ACS patients, comparing its sensitivity and specificity to Thrombolysis In Myocardial Infarction (TIMI) risk scoring. It also intends to determine association between MSI and major adverse cardiovascular events (MACE).
METHODSThis retrospective cohort study was conducted in a tertiary hospital with 172 patients aged 18 and above admitted for ACS from January 2017 to December 2022, focused on in-hospital mortality as the primary outcome and other MACE as secondary outcomes. Chi-square test customized for multiple response sets was done to determine association between MSI and clinical outcomes. The study employed ROC analysis for MSI, generating a curve to illustrate sensitivity-specificity trade-offs, Youden Index determined to identify optimal cut-off points, and DeLong’s test to compare efficacy of MSI and TIMI.
RESULTSA high MSI (≥1) was significantly and independently linked to in-hospital all-cause mortality in ACS patients (p < 0.001). MSI exhibits 82.35% sensitivity and 82.89% specificity for predicting in-hospital mortality. Chi-square test customized for multiple response sets revealed statistically significant association between MSI and the occurrences of cardiogenic shock, revascularization, life-threatening arrhythmia, and cardiac arrest. ROC analysis reveals MSI and TIMI scores as strong predictors (AUC values: 0.848 and 0.787 respectively), with comparable performance indicated by the DeLong test.
CONCLUSIONMSI proved a reliable parameter for predicting in-hospital mortality in patients presenting with ACS in Notre Dame de Chartres Hospital.
Human ; Acute Coronary Syndrome
8.Evaluation of sonographic endometrial findings among patients with polycystic ovarian syndrome: A retrospective study in a local tertiary hospital.
Karla S. ZOLETA ; Lara Marie David BUSTAMANTE ; Melissa D. AMOSCO
Philippine Journal of Obstetrics and Gynecology 2025;49(2):89-97
BACKGROUND AND OBJECTIVE
Polycystic ovarian syndrome (PCOS) is a complex disease associated with endometrial lesions. Local data on endometrial findings associated with PCOS are limited. This study aimed to determine the local prevalence and spectrum of endometrial findings and their association with clinical factors among Filipino women with PCOS.
METHODOLOGYThis is a retrospective review of women aged 18–40 years old seen at a local tertiary hospital from January 2016 to December 2020 with ultrasound findings of polycystic ovaries based on Rotterdam criteria. The clinical data and ultrasound findings/impressions were reviewed. Histopathologic results when available were retrieved. Data were analyzed using descriptive statistics; abnormal endometrial findings were associated with clinical factors using binary logistic regression analysis.
RESULTSA total of 177 women were included in the study, and 39 (22%) had abnormal endometrial findings by ultrasound including thickened endometrium (14.7%), polyp (5.1%), submucous myoma (1.1%), and malignancy (1.1%). Ultrasound findings that were significantly common with abnormal endometrium included thickening, nonuniform echogenicity, and the presence of vascularity. Irregular menses were more common in those with a normal endometrium, while heavy menses predominated in those with an abnormal endometrium, with statistically significant differences (CONCLUSION
Abnormal endometrial findings were relatively common among cases with polycystic ovaries, and most often, cases present with heavy menstrual bleeding. However, no predictable clinical factor can help identify PCOS patients with abnormal endometrial findings. Although malignancy was less common in the age group included in this study, the presence of abnormal sonographic findings would warrant further evaluation.
Human ; Female ; Polycystic Ovary Syndrome
9.A comparison of the performance of SVEAT score versus HEART score in predicting in-hospital MACE in patients admitted for chest pain.
Philippine Journal of Internal Medicine 2025;63(3):5-15
BACKGROUND
Chest pain is a common reason for emergency room visits. The HEART score is used as a risk stratification tool to aid in clinical decision making. The HEART score is a useful tool due to its good sensitivity, however it has low specificity. The SVEAT score was developed as an improved risk stratification tool which outperformed the HEART score in previous studies. Both the performance of HEART and SVEAT scores lack data in our locality.
OBJECTIVETo compare the performance of Symptoms, Vascular disease, Electrocardiography, Age, Troponin-I (SVEAT) score and History, Electrocardiography, Age, Risk factors, Troponin-I (HEART) score as predictors of in-hospital Major Adverse Cardiovascular Events (MACE) among adult patients admitted in Chong Hua Hospital Cebu for chest pain.
METHODSThis single-center, retrospective, observational analytic study included adult patients, ages 18 years old and above, who were admitted for chest pain from January 1, 2022 to December 31, 2022. All patients who passed the inclusion and exclusion criteria were included in the data analysis. Both SVEAT and HEART scores were calculated for each of the included subjects. The performance of both scoring criteria was compared using logistic regression and area under the receiving-operator characteristic curve.
RESULTSA total of 113 cases were analyzed after exclusion criteria were applied. A total of 50 (44.2%) individuals suffered MACE. The difference in AUC of both SVEAT (0.946, 95%CI) and HEART (0.936, 95%CI) was not statistically significant (95% CI – 0.013 – 0.033, p = 0.400). With a cut-off ofCONCLUSION
SVEAT and HEART scores had similar performance in predicting in hospital MACE. Using a cut-off value of
Human
;
Chest Pain
;
Heart
;
Myocardial Infarction
;
Acute Coronary Syndrome
10.A case report on primary collapsing glomerulopathy in a Filipino post-partum female and an updated review of literature
Kristine May F. Valmoria ; Raymond S. Alonso
Acta Medica Philippina 2024;58(2):98-106
Collapsing Glomerulopathy (CG) is a rare entity presenting as nephrotic syndrome and rapidly progressive renal
deterioration. It has been first identified among African-American patients and subsequently dubbed HIV-associated nephropathy after a number of patients with HIV were found to have CG. It has re-emerged recently among patients with COVID-19. To our knowledge, this is the first case of primary collapsing glomerulopathy in the country to be published.
The case is a 36-year-old Filipino female admitted due to bipedal edema which started 2 weeks post-partum. She
has no comorbidities and social history was negative for illicit drug use. Initial work up showed hypoalbuminemia and diffuse hepatic disease on ultrasound. She was referred to a gastroenterologist where albumin infusion and paracentesis was done but with no improvement. She developed anasarca and was admitted. Paracentesis obtained minimal ascitic fluid. Serum ascites albumin gradient was low and baseline laboratories showed high creatinine, hypoalbuminemia, and albuminuria. 24-hour urine protein was 11 grams, ANA and anti-DsDNA were negative and c3 and c4 levels were normal. Hepatitis profile was negative for infection. Abdominal CT scan revealed multiple hypoenhancing lesions. Tumor markers CA-125, CA 19-9 and CA 15-3 were high. Breast ultrasound showed simple breast cyst. Gynecology consult was called where pap smear was negative for atypical cells. Surgery service recommended monitoring for the pancreatic and breast lesions. Kidney biopsy was delayed due to new onset bacterial pneumonia. COVID-19 RT-PCR test was negative. Patient was discharged improved with no edema. On follow up, the kidney biopsy result came out to be collapsing glomerulopathy. HIV test was then done and was negative. Bipedal edema and albuminuria recurred. She was started on tacrolimus. She has been on regular follow up and currently has no edema, no proteinuria and normal creatinine level.
This is an interesting case as the primary glomerular disease has been masked by the earlier laboratory findings
which led us to think of liver disease then a paraneoplastic nephrotic syndrome. Ultimately, the renal biopsy revealed the diagnosis. This serves as an index case for primary collapsing glomerulopathy in a Filipino patient on remission after being treated with tacrolimus.
Nephrotic Syndrome
;
Immunosuppression Therapy


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