1.Normotensive pheochromocytoma presenting as adrenal incidentaloma: A case report
Angeli Nicole S. Ong ; Jeremyjones F. Robles
Philippine Journal of Internal Medicine 2023;61(1):29-35
Background:
Pheochromocytomas are rare catecholamine-secreting tumors that usually present with hypertension
and palpitations. However, a subset of pheochromocytoma patients is asymptomatic, presenting as adrenal
incidentaloma on imaging.
Case:
We present a case of a 32-year-old normotensive female who presented with a right suprarenal mass on
abdominal ultrasound. Diagnosis of pheochromocytoma was made after biochemical testing revealed elevated 24-
hour urine metanephrine of 1.96 mg/24hrs (NV:0-1 mg/24hrs) and epinephrine of 129 mcg/24hrs (NV: 2-24
mcg/24hrs). In addition, plasma chromogranin A was elevated at 225.38 ng/ml (NV:<100 ng/ml). CT scan of the
abdomen showed a 3.0 x 4.0 x 3.0 cm heterogeneous well-circumscribed right adrenal mass, with 87Hu on contrast,
an absolute washout of 21%, and a relative washout of 13% on a delayed scan. After adequate preoperative medical
therapy with an alpha-adrenergic blocker, a right laparoscopic adrenalectomy was done, with histopathologic
confirmation of pheochromocytoma. Repeat 24-hour urine metanephrine measurements done on multiple follow-ups
after surgery were normal.
Conclusion
Asymptomatic pheochromocytoma should be included in the differential diagnoses of adrenal
incidentalomas. As in our case, patients with normotension and adrenal incidentalomas should still undergo
biochemical workup to rule out the presence of pheochromocytoma. Long-term complications from chronic exposure
to high catecholamine levels lead to significant adverse cardiovascular effects. Early detection, adequate perioperative
preparation, and timely surgical intervention can prevent a potential catastrophe.
Pheochromocytoma
;
Blood pressure
;
Filipino
2.Acro-osteolysis in a Filipino male with Vinyl chloride exposure: A case report
Karl Babe G. Tagomata, MD ; Therese Eileen B. Lladoc-Natividad, MD
Acta Medica Philippina 2023;57(7):67-72
Occupational acro-osteolysis pertains to bone resorption of the distal phalanges of the hands and feet among workers with vinyl chloride exposure. We report the case of a Filipino man with osteolysis of the distal phalanges of the hands initially considered to have systemic sclerosis. The patient had gradual shortening of the fingers, thickening of the skin over the extremities, and hypopigmented patches over a span of more than 20 years. His lower extremities presented with non-pitting edema, skin thickening, and neuropathy, without shortening of the digits. Difficulty of ambulation was apparent due to the development of feet inversion. Radiographic findings of the hands and feet included resorption of distal phalanges, erosive and sclerotic changes, and narrowed joint spaces. Other conditions considered were Hansen’s disease, skeletal tuberculosis, and diabetic neuropathic arthropathy, which were eventually ruled out. The final diagnosis was occupational acro-osteolysis secondary to vinyl chloride exposure. The patient underwent serial total contact casting of the bilateral lower extremities to relieve bipedal edema and to reposition the feet. This case emphasizes the significance of investigating a patient’s occupational history and highlights a rare sequela of exposure to a commonly used chemical agent in the manufacture of polyvinyl chloride products.
bone resorption
;
vinyl chloride
;
Filipino
3.Fenestral otosclerosis: A subtle lesion easily missed
Philippine Journal of Otolaryngology Head and Neck Surgery 2021;36(1):65-66
A 29-year-old Filipina of Chinese descent presented with progressive bilateral conductive hearing loss of several years’ duration. While working overseas, she consulted with an otolaryngologist and underwent computerized tomographic (CT) imaging of the temporal bone as part of her evaluation. She was informed that no abnormalities were identified in the imaging exam, and she was offered exploratory middle ear surgery with possible stapes surgery. She then sought a second opinion, with the intention of obtaining a more definitive diagnosis prior to any invasive medical intervention. A review of the CT imaging study, with particular emphasis on looking for radiologic evidence of otosclerosis, revealed the presence of a focal region of bone demineralization in the region of the fissula ante fenestram. (Figure 1) This finding is consistent with a diagnosis of fenestral otosclerosis.
Otosclerosis
;
Hearing Loss, Conductive
;
Filipino
4.Genetic variants associated with poor responsiveness to sulfonylureas in Filipinos with type 2 diabetes mellitus
Elizabeth Paz-Pacheco ; Jose Nevado Jr. ; Eva Maria Cutiongco-de la Paz ; Gabriel Jasul Jr. ; Aimee Yvonne Criselle Aman ; Elizabeth Laurize Alejandro - Ribaya ; Mark David Francisco ; et al.
Journal of the ASEAN Federation of Endocrine Societies 2023;38(S1):31-40
Introduction:
Sulfonylureas (SUs) are commonly used drugs for type 2 diabetes mellitus (T2DM) in the Philippines. This study aimed to associate genetic variants with poor response to gliclazide and glimepiride among Filipinos.
Methodology:
Two independent, dichotomous longitudinal substudies enrolled 139 and 113 participants in the gliclazide and glimepiride substudies, respectively. DNA from blood samples underwent customized genotyping for candidate genes using microarray. Allelic and genotypic features and clinical associations were determined using exact statistical methods.
Results:
Three months after sulfonylurea monotherapy, 18 (13%) were found to be poorly responsive to gliclazide, while 7 (6%) had poor response to glimepiride. Seven genetic variants were nominally associated (p<0.05) with poor gliclazide response, while three variants were nominally associated with poor glimepiride response. For gliclazide response, carboxypeptidase-associated variants (rs319952 and rs393994 of AGBL4 and rs2229437 of PRCP) had the highest genotypic association; other variants include rs9806699, rs7119, rs6465084 and rs1234315. For glimepiride response, 2 variants were nominally associated: CLCN6-NPPA-MTHFR gene cluster – rs5063 and rs17367504 – and rs2299267 from the PON2 loci.
Conclusion
Genetic variants were found to have a nominal association with sulfonylurea response among Filipinos. These findings can guide for future study directions on pharmacotherapeutic applications for sulfonylurea treatment in this population.
genetic variants
;
sulfonylureas
;
Filipino
;
gliclazide
5.Vitamin D status of Filipino high school students in selected schools in Quezon City.
Hazel V. Arnaldo ; Randy P. Urtula ; Maria Estela R. Nolasco
The Philippine Children’s Medical Center Journal 2017;13(1):14-28
BACKGROUND: Vitamin D deficiency has been documented as a frequent problem in almost every region of the world even in the tropical countries and its health consequences are enormous. Infancy and adolescence are age groups particularly at risk of developing vitamin D deficiency. However, there are no data on the Vitamin D status of Filipino adolescents.
OBJECTIVES: To determine the serum 25-hydroxyvitamin D levels in Filipino high school students in selected schools in Quezon City
METHODS: A cross-sectional study of Filipino high school students was undertaken. A total of 97 boys and girls aged 11- 18 years old, attending selected private and public secondary schools in Quezon City participated in the study after parents' consent and students' assent were taken. Serum 25(OH)D levels were determined by electrochemiluminescence immunoassay (ECLIA) using Roche HITACHI Cobas e immunoassay analyzer.
RESULTS: The total serum 25-hydroxyvitamin D levels of the students ranged from 19.92 nmol/L to 88.63 nmol/L with a mean of 52.43 nmol/L. Among the 97 high school students, there was a prevalence of hypovitaminosis D (serum 25 (OH)D <50nmol/L) of 41.2% with 20.6% having deficient (
CONCLUSION: Hypovitaminosis D is highly prevalent among Filipino adolescents in secondary school despite abundance of sunlight. Appropriate interventions are needed to address the problem of poor vitamin D status in schoolchildren.
Human ; Filipino, Adolescents ; Vitamin D Deficiency ; Philippines
6.Incidence, recurrence and mortality among Filipinos with differentiated thyroid cancer: A systematic review
Mari Des San Juan ; Elizabeth Paz-Pacheco
Journal of the ASEAN Federation of Endocrine Societies 2023;38(1):100-107
Background:
The majority of thyroid malignancies are differentiated thyroid carcinomas (DTCs). We examined the incidence, disease extent, recurrence and disease-specific mortality (DSM) of DTC among Filipinos residing in the Philippines and Filipino immigrants.
Methodology:
In accordance with the 2020 PRISMA statement, we performed a systematic literature search in MEDLINE, Google Scholar, EBSCO, Cochrane and Clinicaltrials.gov for the period January 1, 1980 until January 27, 2022. Pooled incidence rate ratio and pooled proportions of disease extent, recurrence and DSM were determined.
Results:
Literature search yielded 1,852 studies. Out of 26 articles retrieved, nine retrospective case controls and cohorts were included. Incidence of DTC was significantly higher in female Filipino immigrants compared with non-Hispanic whites (NHW). Distant metastases and recurrence were more common among Filipinos and Filipino immigrants compared with NHW. Limited data showed higher DSM in Filipino immigrants and NHW than Filipinos, which may be influenced by reporting bias.
Conclusion
This review supports the trend of increased incidence and recurrence of DTC among Filipinos, although case registries are essential to confirm these findings. In the setting of the newly released Philippine guidelines for DTC, prospective studies with active long-term follow-up will help detect any changes in the outcomes of DTC among Filipinos.
Filipino
;
papillary thyroid carcinoma
;
follicular thyroid carcinoma
7.Profiling of genetic mutations among adult Filipino patients diagnosed with Acute Myeloid Leukemia using fluorescence in situ hybridization from 2014 to 2021: A single-institution study.
Aaron Pierre Calimag ; Januario Antonio Veloso, Jr.
Philippine Journal of Pathology 2023;8(1):21-26
INTRODUCTION:
Among patients with Acute Myeloid Leukemia (AML), the karyotype at diagnosis is an
important prognostic indicator for predicting outcomes. Several studies have been done to identify the
most common cytogenetic abnormalities seen in patients in other countries, however, limited studies have
been done in our setting.
OBJECTIVE:
The study aims to determine the most common abnormalities present among patients with AML
referred for Fluorescence in situ Hybridization (FISH) at the National Kidney and Transplant Institute.
METHODOLOGY:
The study included 131 adult patients with a mean age o 46. Fluorescence in situ Hybridization
was used to identify the following cytogenetic abnormalities: t(8;21), 11q23 (MLL), 16q22 (CBFB-MYH11),
t(15;17) (PML/RARA), t(9;22) (BCR/ABL), 7q31 deletion, and Monosomy 7.
RESULTS:
FISH was negative in 40% (n=53) of patients. 7q31 deletion is the most frequently identified
cytogenetic abnormality among patients with a single abnormality (n=17, 13%) present and is the most
frequently identified abnormality among patients with multiple abnormalities (n=26). 7q31 deletion is more
frequently observed among patients between the ages 51 to 60 years old and among patients with AML
with monocytic differentiation. 22% (n=29) of patients have multiple abnormalities, with the most common
abnormalities to occur together are 7q31 deletion and t(8;21) (n=20, 15%). Patients with negative results and
patients with multiple cytogenetic abnormalities are commonly seen within the 41 to 50 age group.
CONCLUSION
The current study provides a single-institution view of the cytogenetic abnormalities among
adult Filipino patients with AML using FISH. Further investigation on the clinical history of these patients,
with correlation with other methods, as well as epidemiologic studies are needed to better understand
the similarities and differences seen from previously reported incidences.
acute myeloid leukemia
;
fluorescence in situ hybridization
;
cytogenetics
;
profiling
;
hematology
;
Filipino