1.Clinical, metabolic, and autoimmune characteristics of newly diagnosed young Filipino adults with diabetes mellitus.
Elizabeth Paz-Pacheco ; Angelique Bea C. Uy ; Angelique Love Tiglao-Gica ; Anna Elvira S. Arcellana ; Aura Bree Dayo-Lacdao ; Cynthia P. Cordero ; Cecilia A. Jimeno ; Ma. Cecille Añ ; onuevo-Cruz ; Noel R. Juban
Acta Medica Philippina 2026;60(2):41-49
OBJECTIVES
In Asia, younger individuals (below age 45) are diagnosed to have type 2 diabetes with increased rates of obesity defined by lower BMI yet with greater visceral adiposity (waist circumference and waisthip ratios). The prevalence data on type 1 diabetes is not well established, considered to be low, but is seen to be increasing as well. This changing phenotype therefore, presents a clinical dilemma in terms of correctly classifying diabetes and deciding on the consequent appropriate treatment. Distinguishing type 1 from type 2 diabetes has become more difficult with type 2 diabetes dramatically increasing in young adults and children. This study aims to define the characteristics of diabetes among young adults in the Philippines to provide a basis for appropriate management amidst changes in diabetes phenotypes seen globally.
METHODSIn this cross-sectional analytic study, we characterized the demographic, metabolic, and autoimmune features of diabetes among young adult Filipinos aged 18 to 45 years old consulting at a tertiary referral center in Manila, Philippines. Baseline serum A1c, FBS, 75-g oral glucose tolerance test, insulin, serum C-peptide, insulin autoantibodies, leptin, adiponectin, lipid profile, and thyroid function tests were obtained from the participants and analyzed. The homeostasis model assessment (HOMA) was used to estimate the insulin sensitivity.
RESULTSA total of 348 patients with diabetes were included, with females comprising two-thirds of the participants. The mean age at diagnosis of diabetes was 35.9±7.22 years. The mean BMI was 28.12 kg/m2, with median waist to hip ratio (WHR) of 0·93. Metabolic syndrome was found in 60% of participants and 67.82% were obese by body mass index. The mean A1c was 9.07±2.52%. Good glucose control (A1c less than 7.0%) was seen in 23% of participants while nearly half (48%) had HbA1c which was >9.0%. The median levels of fasting insulin and C-peptide were 12.62 (range 1.33–90.42) mIU/L and 0.78 ng/mL (range 0–16.2), respectively.
Included participants were diagnosed with diabetes within a year and as such, majority did not have any micro- or macrovascular complications. The most common diabetes complication was sensory neuropathy detected by monofilament testing, which was found in 28% of participants, followed by non-proliferative diabetic retinopathy in 13%. A history of previous diabetic ketoacidosis was found in 10 patients (2.87%). Glutamic acid decarboxylase (GAD) and insulin auto-antibodies were found in 3.2% and 19.3% of participants, respectively. Approximately half (51.73%) of the participants were insulin resistant by HOMA-IR.
CONCLUSIONIn contrast with Caucasians and other Asians, diabetes among young Filipino adults is associated with lower BMI but with a similarly high visceral adiposity as shown by an elevated WHR. Metabolic syndrome with insulin resistance as defined by a variety of indices is predominant. Type 1 diabetes with autoantibodies occur in only a small fraction of this population. Data derived from this work can provide a framework for cluster analysis towards personalized management specific to this population.
Human ; Acids ; Adiponectin ; Adiposity ; Adult ; Aged ; Antibodies ; Asia ; Asian ; Asian Continental Ancestry Group ; Autoantibodies ; Body Mass Index ; C-peptide ; Carboxy-lyases ; Child ; Cluster Analysis ; Demography ; Diabetes Complications ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis ; Diabetic Retinopathy ; Diagnosis ; Fasting ; Female ; Glucose ; Glucose Tolerance Test ; Glutamate Decarboxylase ; Glutamic Acid ; Insulin ; Insulin Resistance ; Ketosis ; Leptin ; Lipids ; Metabolic Syndrome ; Obesity ; Patients ; Peptides ; Phenotype ; Philippines ; Population ; Prevalence ; Serum ; Therapeutics ; Thyroid Gland ; Thyroid Function Tests ; Young Adult
2.Standard operating procedure for microscopic tooth preparation.
Chinese Journal of Stomatology 2021;56(4):318-323
Tooth preparation is the primary and core operation technique for prosthodontics. Microscopic tooth preparation can improve the accuracy and efficiency of the operation. Experts from Society of Prosthodontics, Chinese Stomatological Association formulated the standard operating procedure for microscopic tooth preparation, so as to standardize its design points and operating procedures, highlight the difference between this novel technique and the traditional naked eye tooth preparation and promote the application of microscopic tooth preparation.
Asian Continental Ancestry Group
;
Humans
;
Oral Medicine
;
Prosthodontics
;
Reference Standards
;
Tooth Preparation
3.Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome.
Jianmei YANG ; Xiaohong SHANG ; Fan LIU ; Qian WANG ; Caihong LIU ; Yan SUN ; Guimei LI
Chinese Journal of Medical Genetics 2021;38(3):232-237
OBJECTIVE:
To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).
METHODS:
Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster.
RESULTS:
The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up.
CONCLUSION
The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
Asian Continental Ancestry Group/genetics*
;
China
;
Humans
;
Hyalinosis, Systemic/genetics*
;
Male
;
Mutation
;
Pedigree
;
Receptors, Peptide/genetics*
;
Retrospective Studies
4.Genetic polymorphisms of 21 non-combined of DNA index system short tandem repeat loci in Hainan Li population.
Tao LI ; Yaqing ZHANG ; Ying'ai ZHANG
Chinese Journal of Medical Genetics 2021;38(5):503-505
OBJECTIVE:
To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat (STR) loci in Hainan Li population.
METHODS:
DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were electrophoresed on an ABI3130 Genetic Analyzer following the manufacturer's instructions. Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit.
RESULTS:
A total of 173 alleles and 489 genotypes were observed for the 21 STR loci, respectively. The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274, respectively. The heterozygosity varied from 0.639 to 0.833. Discrimination power (DP) was 0.803-0.948, power of exclusion for trio-paternity was 0.416-0.584, power of exclusion for duo-paternity was 0.140-0.238, the polymorphism information content(PIC) was 0.57-0.81, respectively. The total discrimination power (TDP), cumulative probability of exclusion for trio-paternity testing(CPE-trio) and cumulative probability of exclusion for duo-paternity testing (CPE-duo) were 0.999 999 999 999 99, 0.999 999 883 211 752, and 0.987 266, respectively.
CONCLUSION
The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.
Asian Continental Ancestry Group/genetics*
;
China
;
DNA
;
Gene Frequency
;
Genetics, Population
;
Humans
;
Microsatellite Repeats/genetics*
;
Polymorphism, Genetic
5.Genetic polymorphism of 23 autosomal STR loci in Han population from Yuncheng, Shanxi Province.
Hongyan GAO ; Jian YU ; Xiaodan FENG ; Xiaohong WU ; Li LUO ; Xianfeng LI ; Chao LIU ; Pengyu CHEN
Journal of Central South University(Medical Sciences) 2021;46(4):351-360
OBJECTIVES:
Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations.
METHODS:
A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.
RESULTS:
The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (
CONCLUSIONS
These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.
Asian Continental Ancestry Group/genetics*
;
China
;
Ethnic Groups/genetics*
;
Gene Frequency
;
Genetic Loci
;
Genetics, Population
;
Humans
;
Microsatellite Repeats/genetics*
;
Polymorphism, Genetic
6.Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis.
Junyi CHEN ; Xiangyi LIU ; Yingsheng XU ; Dongsheng FAN
Journal of Southern Medical University 2021;41(1):75-78
OBJECTIVE:
To explore the association between rare HSPB1 variants and amyotrophic lateral sclerosis (ALS).
METHODS:
We performed next-generation sequencing for 166 Chinese ALS patients to screen for possible pathogenic rare variants of HSPB1. The control individuals were obtained from 1000 Genome Project and an in-house whole-exome sequencing database. The Sequence Kernel Association Test (SKAT) and the SKAT-optimal test (SKAT-O) were used to identify the association between rare HSPB1 variants and ALS.
RESULTS:
We identified 3 possible pathogenic rare variants of HSPB1 (all were missenses), including c.379C>T (p.R127W), c.446A>C (p.D149A) and c.451A>C (p.T151P). Compared with 1000 Genome Project, SKAT p=3.61×10
CONCLUSIONS
Rare variants of HSPB1 are probably associated with the pathogenesis of ALS.
Amyotrophic Lateral Sclerosis/genetics*
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Asian Continental Ancestry Group
;
Heat-Shock Proteins
;
Heterozygote
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Molecular Chaperones
;
Phenotype
10.Guideline on optimal blood pressure range for Chinese oldest old.
Chinese Journal of Preventive Medicine 2021;55(3):335-338
Hypertension is a major problem of public health that endangers the health of the oldest old. However, the current guidelines for hypertension management do not uniformly diagnose hypertension among the oldest old, nor recommend a normal blood pressure range, which is not convictive enough to support the decision making to the prevention of blood pressure-related adverse events. This guideline gives guiding opinions on optimal blood pressure range for the Chinese oldest old, which applies to the staff of medical and health institutions at all levels nationwide to evaluate the blood pressure levels of the oldest old. It includes the sections of general principles, methods and standards of blood pressure evaluation, measurement conditions, specifications of blood pressure measurement, implementation approaches, etc. The guideline has important directive significance for improving the blood pressure management and decision-making level of the Chinese oldest old.
Aged, 80 and over
;
Asian Continental Ancestry Group
;
Blood Pressure
;
Blood Pressure Determination
;
China
;
Humans
;
Hypertension/prevention & control*


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