OBJECTIVE: To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis. METHODS: The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma. RESULTS: A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker β-human chorionic gonadotropin (β-HCG) were normal in 8 patients.The serum β-HCG was normal in 11 patients but the cerebrospinal fluid β-HCG was slightly elevated, and the serum and cerebrospinal fluid β-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement. CONCLUSION The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.
Atrophy/pathology* ; Basal Ganglia/pathology* ; Biomarkers, Tumor ; Brain Neoplasms/diagnostic imaging* ; Child ; Chorionic Gonadotropin, beta Subunit, Human ; Female ; Germinoma/pathology* ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasms, Germ Cell and Embryonal ; Retrospective Studies

Heterotopic pregnancies are rare and difficult to be diagnosed early. A patient with combined intrauterine pregnancy and cervical pregnancy was admitted in Qingdao Municipal Hospital in 2019. The patient complained of abnormal vaginal bleeding after menopause and was misdiagnosed as simple intrauterine pregnancy. She underwent artificial abortion and suffered intraoperative hemorrhage. To stop bleeding, she received the treatment of uterine artery embolization immediately. Afterwards, cervical residual pregnancy tissues started necrosis, blood β-human chorionic gonadotropin level and the cervix appearance gradually returned to normal. This report suggests that cervical heterotopic pregnancy inclines to be mis diagnosed. Correct diagnosis should be made as soon as possible. Selective uterine artery embolization is an effective measure to prevent and treat massive bleeding.
Chorionic Gonadotropin, beta Subunit, Human ; Female ; Humans ; Pregnancy ; Pregnancy, Heterotopic/surgery* ; Uterine Artery Embolization ; Uterine Hemorrhage

To establish a fetal biparietal diameter (BPD)-gestational age formula based on the data of pregnant women from Xiaoshan District of Hangzhou, and to evaluate its application in prenatal screening.Data of 3500 pregnant women with gestational age between 15 weeks and 19 weeks+6 receiving prenatal screening in Xiaoshan Hospital during May 2014 and May 2015 were collected. BPDs were used to establish a localized BPD-gestational age formula. The localized formula was used to evaluate the prenatal screening risks in 1759 pregnant women with irregular menstrual cycles or uncertain last menstrual period (LMP) in Xiaoshan District, and the results were compared with those calculated using formula in LifeCycle 4.0.With localized formula, the total positive rate of Down syndrome, trisomy 18 syndrome and deformity of neural tube was decreased from 6.96% to 5.85% (<0.05), in which the positive rate of Down syndrome decreased (<0.05), that of deformity of neural tube increased (<0.05), and that of trisomy 18 syndrome remained the same (>0.05). The median MoMs of free-hCG &beta; and α-fetoprotein calculated using localized formula were significantly different from those calculated using the formula in LifeCycle 4.0 (all<0.05), and the former ones were more closer to 1. For women of fetus diagnosed with the above diseases, the positive rate calculated using localized formula was almost the same as that calculated using the formula in LifeCycle 4.0.BPD-gestational age formula should be localized based on the statistical analysis of the local population, which will help to reduce the false positive rate, and make the results more accurate and reliable in prenatal screening.
Adult ; Body Weights and Measures ; standards ; Cephalometry ; standards ; statistics & numerical data ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; standards ; Chromosomes, Human, Pair 18 ; Down Syndrome ; diagnosis ; embryology ; Epidemiologic Measurements ; Female ; Fetal Development ; Gestational Age ; Head ; embryology ; Humans ; Mass Screening ; methods ; standards ; statistics & numerical data ; Menstrual Cycle ; Neural Tube Defects ; diagnosis ; embryology ; Pregnancy ; Prenatal Diagnosis ; methods ; standards ; statistics & numerical data ; Reference Values ; Trisomy ; diagnosis ; Trisomy 18 Syndrome ; alpha-Fetoproteins ; analysis ; standards

BACKGROUND: Pineal region tumor is a rare and reportable case. Incidence rate adults is 0.025 in 10,000 hence there is no established guidelines among adults  for diagnosis and management of this case.
CASE: A case of a 20-year-old male with a two-month history of  intermittent  headache,  occipital  area  with  VAS  5/10,increasing in severity. Until two days prior to admission with severe headache VAS 9-10/10, occipital, and nonradiating.Patient  noted  episodes  of  projectile  vomiting  hence,admitted. Patient presented with non-lateralizing symptoms but  noted  papilledema  and  parinaud  syndrome.Cranial  MRI with contrast revealed a 2.5cm pineal gland tumor with obstructive  hydrocephalus.  Serum  AFP  (alpha-fetoprotein  )  and  beta-HCG  (beta subunit of human chorionic gonadotropin) were requested and revealed elevated levels.The patient underwent endoscopic third ventriculostomy but no biopsy was done due to high risk of bleeding. Patient underwent series of radiotherapy and was advised to undergo chemotherapy but patient refused. Patient had improved upward gaze but with residuals, no recurrence of headache or vomiting, had normalization of the serum tumor markers but noted increase in size of the tumor despite radiotherapy.
CONCLUSION: Case  reports  of  pineal  region  tumors  will  help doctors  in  the  primary  hospitals  diagnose  such  cases  and differentiate it from benign causes of headache. This will aid in early referral to specialists and early intervention.

Human ; Male ; Adult ; Pinealoma ; Alpha-fetoproteins ; Chorionic Gonadotropin, Beta Subunit, Human ; Ventriculostomy ; Chorionic Gonadotropin ; Biomarkers, Tumor ; Papilledema ; Hydrocephalus ; Headache ; Vomiting ; Ocular Motility Disorders

Metastases to skeletal muscle and paraneoplastic syndromes involving beta-human chorionic gonadotropin (HCG) production are an extremely rare manifestation of head and neck squamous cell carcinoma. We report a patient with a beta-HCG-secreting squamous cell carcinoma of the tongue with diffuse metastases involving skeletal muscle. A 47 year old female, who was being treated heavily with palliative chemotherapy for metastatic tongue cancer, was admitted with a palpable thigh mass and pain. A magnetic resonance image showed an intramuscular metastasis in the thigh. Ultrasound-guided biopsy of the thigh mass confirmed metastatic squamous cell carcinoma. She was scheduled for enrollment into a clinical trial; however, a positive serum beta-HCG test was noticed. There was no evidence of pregnancy or a trophoblastic or non-trophoblastic tumor secreting beta-HCG. Finally, she was revealed to have a paraneoplastic syndrome with diffuse metastases and was ultimately referred for palliative care. We review the literature of previously reported cases of an increase of beta-HCG in patients with head and neck cancer.
Biopsy ; Carcinoma, Squamous Cell ; Chorionic Gonadotropin ; Chorionic Gonadotropin, beta Subunit, Human ; Drug Therapy ; Female ; Head ; Head and Neck Neoplasms ; Humans ; Muscle, Skeletal* ; Neck ; Neoplasm Metastasis* ; Palliative Care ; Paraneoplastic Syndromes ; Pregnancy ; Thigh ; Tongue Neoplasms* ; Tongue* ; Trophoblasts

Primary colorectal choriocarcinoma is a rare neoplasm. Only 19 cases have been reported worldwide, most of which involved adenocarcinomas. The prognosis is usually poor, and the standard therapy for this tumor has not been established. A 61-year-old woman presented with constipation and lower abdominal discomfort. She was diagnosed with primary adenocarcinoma with focal choriocarcinomatous differentiation in the sigmoid colon and liver metastasis. Because the serum beta-human chorionic gonadotropin level was not significantly elevated, and because only focal choriocarcinomatous differentiation was diagnosed, we selected the chemotherapy regimen that is used for the treatment of metastatic colorectal adenocarcinoma. The patient survived for 13 months after the initial diagnosis. This is the first case in Korea to assess the suppressive effects of the standard chemotherapy for colorectal adenocarcinoma against coexisting colorectal choriocarcinoma and adenocarcinoma.
Adenocarcinoma/*diagnosis/drug therapy/pathology ; Antineoplastic Agents/administration & dosage ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; CA-19-9 Antigen/analysis ; Chorionic Gonadotropin, beta Subunit, Human/blood ; Colon, Sigmoid/pathology ; Colonic Neoplasms/*diagnosis/drug therapy/pathology ; Colonoscopy ; Constipation/etiology ; Female ; Fluorouracil/therapeutic use ; Humans ; Leucovorin/therapeutic use ; Liver Neoplasms/secondary ; Middle Aged ; Organoplatinum Compounds/therapeutic use ; Prognosis ; Tomography, X-Ray Computed

OBJECTIVETo explore the clinical value of screening the serum markers during the second trimester of pregnancy in preventing congenital birth defect and predicting the pregnancy outcome.

METHODSBetween November, 2011 and October, 2013, a total of 25 520 pregnant women (15-20+6 gestational weeks) underwent a screening test of triple serum markers including free beta-human chorionic gonadotrophin (free &beta;hCG), alpha-fetoprotein (AFP), and unconjugated estriol (µE3) during the second semester of pregnancy. The women identified by the screening test as having high risks were referred to invasive prenatal diagnosis by amniocentesis, or to color Doppler ultrasound examination for suspected patent neural tube defect (NTD), and their pregnancy outcomes were followed up.

RESULTSHigh-risk pregnancies were identified by the screening test in 4.91% (1254/25520) of the total cohort. Of the 818 patients receiving invasive prenatal diagnosis, the abnormal rate was 5.75% (47/818). The high-risk pregnancies identified by the screening test was associated with a significantly higher rate of abnormal outcomes compared with the low-risk pregnancies (1.91% vs 0.1%, P<0.01). Of the 210 high-risk cases of NTD, a definite diagnosis was established in 34 cases. We also found that pregnancies at an advanced age (>35 years) was associated with increased risks for trisomy 21 compared with those at younger ages (15% vs 1.65%P<0.01). The detection rate of abnormal karyotypes in pregnancies with an abnormal MoM value of a single marker was 3.17% (6/189).

CONCLUSIONScreening tests of serum markers during the second trimester of pregnancy can be helpful to identify fetal chromosomal and anatomical anomalies, predict unfavorable pregnancy outcomes, and prevent birth defects in pregnancies at an advanced age. The MoM value of a single marker in the second trimester can be indicative of potential chromosomal abnormalities.

Biomarkers ; blood ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Aberrations ; Down Syndrome ; diagnosis ; Estriol ; blood ; Female ; Humans ; Neural Tube Defects ; diagnosis ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, Second ; blood ; Prenatal Diagnosis ; alpha-Fetoproteins ; analysis

OBJECTIVETo investigate the value of serum beta-human chorionic gonadotropin (&beta;-HCG) on days 9 (d9) and 11 (d11) after fresh embryo transfer (ET) and frozen-thawed embryo transfer (FET) in predicting the pregnancy outcomes.

METHODSA total of 227 fresh ET and FET cycles performed at the Center of Reproductive Medicine, Qingyuan People's Hospital between Dec, 2012 and Feb, 2014 were analyzed. The data of serum &beta;-HCG levels on d9 and d11 after fresh ET and FET cycles and the pregnancy outcomes were reviewed, and the ROC curve was constructed to determine the optimal cut-off level of serum &beta;-HCG level for predicting pregnancy outcomes.

RESULTSAccording to pregnancy outcomes, the cycles were divided into non-pregnancy group (group A), biochemical pregnancy group (group B), and clinical pregnancy group (group C). Significant differences were found between the mean serum &beta;-HCG levels measured on d9 and d11 in all the 3 groups (P<0.01). The cycles in group C were further divided into 5 subgroups with single pregnancy (C1), twin pregnancy (C2), early abortion (C3), ectopic pregnancy (C4), or intrauterine pregnancy complicated with ectopic pregnancy group (C5), and all the 5 subgroups showed significant differences in &beta;-HCG measurements between d9 and d11 (P<0.01). On d9 after ET and FET, the optimal cut-off level of serum &beta;-HCG was 49.05 IU/L for predicting for clinical pregnancy, and was 105.15 IU/L for predicting twin pregnancy; the two corresponding cut-off levels of serum &beta;-HCG on d11 was 51.2 IU/L and 241.75 IU/L, respectively.

CONCLUSIONThe absolute serum &beta;-HCG level on d9 and d11 after fresh ET and FET allows an accurate diagnosis of pregnancy and helps in the prediction of the pregnancy outcomes.

Chorionic Gonadotropin, beta Subunit, Human ; blood ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Pregnancy ; Pregnancy Outcome ; ROC Curve ; Retrospective Studies

Chorionic Gonadotropin, beta Subunit, Human ; blood ; Cost-Benefit Analysis ; Down Syndrome ; blood ; diagnosis ; False Positive Reactions ; Female ; Health Care Costs ; Humans ; Maternal Serum Screening Tests ; economics ; methods ; standards ; Pregnancy ; Pregnancy Trimester, First ; blood ; Pregnancy-Associated Plasma Protein-A ; metabolism ; Prenatal Care ; methods ; Prenatal Diagnosis ; economics ; methods ; standards

OBJECTIVETo evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and(or) plus nuchal translucency (NT) in Guangzhou region.

METHODSThe results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012. A total of 43 703 pregnancies between 9 and 13(+6) weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA), free &beta; -human chorionic gonadotropin (free &beta; -hCG) with or without crown-rump length (CRL). Nuchal translucency was measured by ultrasonographic scan between 11 and 13(+6) weeks of pregnancy. Gestational age was estimated by ultrasonographic scan. The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle. Comparing the difference between the combined screening (PAPPA, free &beta; -hCG and NT) and serum marker screening (PAPPA and free &beta; -hCG).

RESULTSAmong the 43 703 pregnant women, screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive. The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities, of which 54 cases suffered from Down syndrome, 13 had trisomy 18, and 75 had other chromosome abnormalities. The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%, respectively.The positive rate is lower, and the detection rate is higher in combined screening group than serum marker screening group. The median PAPPA MoM was lower and the median free &beta; -hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group. The median PAPPA and free &beta; -hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.

CONCLUSIONThe first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy. The combined screening method is superior to the serum marker screening and is the preferred strategy in the first trimester prenatal screening.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Biomarkers ; blood ; China ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Down Syndrome ; diagnosis ; genetics ; Female ; Fetal Diseases ; diagnosis ; ethnology ; genetics ; Genetic Testing ; methods ; Humans ; Middle Aged ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy-Associated Plasma Protein-A ; metabolism ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Trisomy ; diagnosis ; genetics ; Trisomy 18 Syndrome ; Young Adult