BACKGROUND

Proficiency in performing thoracentesis is a key competency recommended in the Medical Schools Objective Project (MSOP) adopted by the American Association of Medical Colleges, USA, that medical students should possess prior to graduation, although they often do not practice it clinically until the later stages of their training. Thiel-embalmed cadavers, which offer a lifelike experience with less irritation than formalin-preserved cadavers, have been increasingly used as early as 1st year medical school to teach such procedures because of their feel-like and look-like real patients. There are no studies on the use of Thiel- cadavers for simulated thoracentesis among medical students in the Philippines.

To evaluate the attitudes and perceptions of medical students on the use of Thiel-soft embalmed cadavers for simulated thoracentesis as to the understanding of thoracic anatomy, overall learning experience, and confidence in performing the procedure in the cadaver and possibly in the clinical setting.

This is a descriptive cross-sectional study among Learning Unit III medical students in the University of the Philippines conducted from June 13 to 17, 2022. In the final station of the Organ System Course 205 of the Department of Anatomy's LEAP II program, a simulated thoracentesis procedure was set up using a Thiel-preserved cadaver with artificially created pleural effusion. After watching and studying thoracic anatomy, watching a video on how thoracentesis was performed by a general surgeon, students performed the procedure, and were asked to answer a 6-question Likert-scale survey to assess their perceptions and attitudes of the simulation procedure. Data was analyzed using descriptive statistics.

Most of the students strongly agreed that practicing thoracentesis on the soft cadaver has improved their understanding of the anatomical basis of doing thoracentesis (97%) and of the steps of the procedure (94.9%). Similarly, when asked about how they felt doing the simulated thoracentesis, almost all (98%) strongly agreed that it was an enjoyable and stimulating learning experience. Majority strongly agreed (68%) that they felt capable doing the procedure on a soft cadaver against less than half (38.4%) feeling capable of doing it in the clinical setting. Almost all (97%) strongly agreed that simulated thoracentesis on a soft-embalmed cadaver should be part of the learning competencies of medical students because of the skills they learn by doing the procedure.

Integrating a simulated thoracentesis using a Thiel-preserved cadaver early in the course of a student’s medical education, provided students with a better understanding of the anatomy of the thoracic wall and the anatomical basis of doing this simulation procedure. Though confidence in performing the procedure in a soft cadaver is higher than in a clinical setting, the latter setting may need repeated training to further hone their skills. Practicing thoracentesis on soft-embalmed cadavers significantly enhanced medical students' understanding and enjoyment of the procedure. This innovative approach can be considered by anatomy educators as an integrative learning activity when teaching thoracic cage anatomy. This can also be extended to senior medical students and residents across different specialties.

Contarini’s syndrome refers to the occurrence of bilateral pleural effusion which has different causes for each hemithorax. Based on extensive literature search, this is a rare finding and to date, only two published cases have recorded tuberculous effusion on one side. In this paper, the authors aim to present a case of Contarini’s syndrome, and to give emphasis that such condition with different etiologies exists and should be considered in managing bilateral effusion. This is a case of a 69-year-old female with a 7-week history of dyspnea, 2-pillow orthopnea, fever, and right-sided chest discomfort. Patient sought consultation and was prescribed with Diclofenac and Cefalexin with no relief. Patient was then admitted and intubated due to worsening dyspnea. Patient was managed as COVID-19 confirmed critical with viral myocarditis, CAP-HR, and diabetic ketoacidosis. Initial chest x-ray showed right-sided pleural effusion. Thoracentesis was done and revealed exudative pleural fluid (PF) with WBC of 20,000 with neutrophilic predominance and negative RT-PCR MTB. Cytology revealed acute inflammatory pattern. Klebsiella pneumoniae ESBL was isolated. Antibiotics were shifted to levofloxacin and meropenem. Repeat chest x-ray showed left-sided pleural effusion. Thoracentesis was done and revealed exudative PF with WBC of 1,680 with neutrophilic predominance. No organism was isolated. RT-PCR for MTB was detected. Thus, anti-TB therapy was initiated. However, ETA TB culture showed resistance to isoniazid, rifampicin, and pyrazinamide. Patient was referred to PMDT for MDR-TB treatment. Bilateral effusion has resolved with no recurrence, and with uneventful removal of bilateral chest tubes. Patient was eventually extubated and transferred to the ward. Patient however developed HAP, was re-intubated and eventually expired due to the septic shock from VAP. This case report highlights the importance of weighing risk versus benefit in deciding to perform bilateral thoracentesis when there is a clinical suspicion of an alternate or concurrent diagnosis.

: Contarini’s syndrome refers to the occurrence of bilateral pleural effusion which has different causes for each hemithorax. Based on extensive literature search, this is a rare finding and to date, only two published cases have recorded tuberculous effusion on one side. In this paper, the authors aim to present a case of Contarini’s syndrome, and to give emphasis that such condition with different etiologies exists and should be considered in managing bilateral effusion. : This is a case of a 69-year-old female with a 7-week history of dyspnea, 2-pillow orthopnea, fever, and right-sided chest discomfort. Patient sought consultation and was prescribed with Diclofenac and Cefalexin with no relief. Patient was then admitted and intubated due to worsening dyspnea. Patient was managed as COVID-19 confirmed critical with viral myocarditis, CAP-HR, and diabetic ketoacidosis. Initial chest x-ray showed right-sided pleural effusion. Thoracentesis was done and revealed exudative pleural fluid (PF) with WBC of 20,000 with neutrophilic predominance and negative RT-PCR MTB. Cytology revealed acute inflammatory pattern. Klebsiella pneumoniae ESBL was isolated. Antibiotics were shifted to levofloxacin and meropenem. Repeat chest x-ray showed left-sided pleural effusion. Thoracentesis was done and revealed exudative PF with WBC of 1,680 with neutrophilic predominance. No organism was isolated. RT-PCR for MTB was detected. Thus, anti-TB therapy was initiated. However, ETA TB culture showed resistance to isoniazid, rifampicin, and pyrazinamide. Patient was referred to PMDT for MDR-TB treatment. Bilateral effusion has resolved with no recurrence, and with uneventful removal of bilateral chest tubes. Patient was eventually extubated and transferred to the ward. Patient however developed HAP, was re-intubated and eventually expired due to the septic shock from VAP. This case report highlights the importance of weighing risk versus benefit in deciding to perform bilateral thoracentesis when there is a clinical suspicion of an alternate or concurrent diagnosis.
Pleural effusion ; Thoracentesis ; COVID-19

OBJECTIVE: To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome. METHODS: A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022. RESULTS: For the 33-year-old pregnant woman, ultrasonography at 22+6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47,XX,+12[1]/46,XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes. CONCLUSION Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.
Infant, Newborn ; Child ; Pregnancy ; Female ; Humans ; Adult ; Trisomy/genetics* ; Amniocentesis/methods* ; Chromosome Disorders ; Mosaicism ; Fetus ; Heart Defects, Congenital/genetics*

OBJECTIVE: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance. METHODS: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out. RESULTS: The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics. CONCLUSION Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.
Child ; Pregnancy ; Female ; Humans ; China ; Twins/genetics* ; Amniocentesis ; Karyotyping ; Fetus ; Twins, Monozygotic/genetics* ; Ultrasonography, Prenatal ; Retrospective Studies

OBJECTIVE: To explore the cause for a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing (NIPT-plus). METHODS: A pregnant woman with twin pregnancy through in-vitro fertilization and negative result of NIPT-plus was selected as the study subject. Amniocentesis was conducted after ultrasonic finding of fetal abnormalities. In addition to conventional G-banded karyotyping, copy number variation sequencing (CNV-Seq) was used to detect chromosomal microdeletion and microduplication. Clinical data of the woman were analyzed to explore the reasons underlying the false negative result. RESULTS: NIPT-plus has yielded a negative result with 11.77 Mb unique reads and 3.05% fetal fraction. Both fetuses had a normal karyotype (46,XY and 46,XX). CNV-seq indicated that one of the fetuses was normal, whilst the other was diagnosed with a 2.58 Mb deletion in the 22q11.2 region. CONCLUSION The false negative result may be attributed to the combined influence of low fetal fraction, high BMI, twin pregnancy through IVF and a relatively small deletion fragment. Ultrasonography exam following a low-risk result of NIPT-plus should not be neglected.
Pregnancy ; Female ; Humans ; Prenatal Diagnosis ; Pregnancy, Twin/genetics* ; DiGeorge Syndrome/genetics* ; DNA Copy Number Variations ; Amniocentesis

OBJECTIVE: To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD). METHODS: Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq). RESULTS: The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23⁺⁴ weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq. CONCLUSION T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.
Female ; Humans ; Pregnancy ; Amniocentesis ; Chromosomes, Human, Pair 2/genetics* ; DNA Copy Number Variations ; Fetal Death ; Fetal Growth Retardation/genetics* ; Fetus ; Mosaicism ; Oligohydramnios ; Placenta ; Trisomy/genetics* ; Uniparental Disomy/genetics*

The standardized medical genetics residency training in China has started late and differed from foreign training systems with no ready-made experience for reference. Started from 2014, the development of medical genetics residency training has encountered difficulties in enrollment, poor basic knowledge, and difficulties in completing the training tasks. Through a series of teaching reforms such as to offer elective courses to undergraduates, employment of flexible and diverse teaching forms such as MOOC, provision of high simulation amniocentesis model for professional skill training, and establishment of a sound teacher training system, our institution has expanded the choice for medical students' career direction and improved the core competency of medical genetics residency trainees.
Humans ; Female ; Pregnancy ; Internship and Residency ; Genetics, Medical ; Amniocentesis ; China ; Computer Simulation

Aneurysm, False ; Carotid Artery Diseases ; Carotid Artery, Internal ; Humans ; Paracentesis ; Peritonsillar Abscess

OBJECTIVE: To report on a case of mosaicism 13q inversion duplication, analyze its mechanism, and discuss the correlation between its genotype and phenotype. METHODS: Amniotic fluid and umbilical cord blood were collected at 23 and 32 weeks of gestation, respectively. Combined with G-banding chromosome karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were used to confirm the result. RESULTS: The karyotype of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY. After careful counseling, the couple decided to continue with the pregnancy, and had given birth to a boy at 40 weeks' gestation. Except for a red plaque (hemangioma) on the nose bridge, no obvious abnormality (intelligence to be evaluated) was discovered. CONCLUSION To provide reference for clinical genetic counseling and risk assessment, the location and proportion of new centromere formation should be fully considered in the case of mosaicism 13q inversion duplication.
Amniocentesis ; Chromosome Inversion/genetics* ; Comparative Genomic Hybridization ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Mosaicism ; Pregnancy ; Prenatal Diagnosis