Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination

Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix. Neurofibromatosis type 1 is an autosomal dominant disorder caused by a mutation in the NF1 gene. Patients with neurofibromatosis type 1 have an increased incidence of typical neuroendocrine tumors, but it is unknown if this is the case with goblet cell carcinoids. We describe a patient with both neurofibromatosis type 1 and goblet cell carcinoid, that according to literature would occur in 0.00017 per million per year. This may suggest a previously unknown association between neurofibromatosis type 1 and goblet cell carcinoids

Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome

Introduction: Kallmann syndrome (KS) is a rare, congenital disorder combining hypogonadotropic hypogonadism (HH) due to GnRH-deficiency with anosmia. Traditionally thought to require lifelong therapy it turns out to be a reversible condition in some patients. Case report: We present a case of a 22-year old man with absent puberty due to KS, in whom genetic testing revealed heterozygosity for a mutation in the PROK2 gene. Pubertal development and virilisation was achieved by using human chorionic gonadotropin (hCG) injections followed by testosterone replacement. During the follow-up we observed reversal of hypogonadism allowing discontinuation of testosterone treatment. Normalisation of testicular volume as well as gonadotropin and inhibin B levels through a 2-year postreversal period was seen. Conclusions: Treatment with hCG is effective in inducing pubertal development and may have advantage over testosterone replacement due to a potential of gonadal maturation. A regular assessment of testicular volume and biochemical surveillance including measuring of serum inhibin B and gonadotropins are necessary for a timely detection of reversal of GnRH deficiency.Wstęp: Zespół Kallmanna jest rzadkim, wrodzonym zaburzeniem łączącym hipogonadyzm hipogonadotropowy spowodowany niedobo­rem GnRH z anosmią. Tradycyjnie uważany za wymagający leczenia przez całe życie u części pacjentów okazuje się stanem odwracalnym. Opis przypadku: Prezentujemy przypadek 22-letniego mężczyzny z brakiem cech pokwitania z powodu zespołu Kallmanna, u którego badanie genetyczne ujawniło heterozygotyczność dla mutacji genu PROK2. Rozwój cech pokwitania i wirylizacji osiągnięto, podając in­iekcje ludzkiej gonadotropiny kosmówkowej (hCG), a stosując następnie leczenie testosteronem. Podczas obserwacji wystąpiło zjawisko samoistnego ustąpienia hipogonadyzmu hipogonadotropowego (tzw. reversal), co pozwoliło na przerwanie leczenia testosteronem. W ciągu następnych 2 lat stwierdzono normalizację wielkości jąder, a także stężeń gonadotropin i inhibiny B. Wnioski: Leczenie hCG jest skuteczne w indukcji pokwitania i może mieć przewagę nad leczeniem testosteronem z uwagi na możliwość procesu dojrzewania jąder. Częsta ocena wielkości jąder i kontrola parametrów biochemicznych, takich jak stężenie gonadotropin i inhi­biny B, są konieczne dla wczesnego wykrycia zjawiska reversal

Acquisition and Elimination of Bacterial Vaginosis During Pregnancy: A Danish Population-Based Study

Objectives: the aim was to examine factors associated with acquisition and elimination of bacterial vaginosis in pregnancy. Methods: a group of 229 pregnant women were randomly selected from a population-based prospective cohort study of 2927. They were examined at enrollment (mean gestational weeks 16w + 0d) and again in mid-third trimester (mean gestational age 32w + 3d). Measures: BV (Amsel's clinical criteria), microbiological cultures of the genital tract and questionnaire data. Results: BV prevalence decreased from 17% in early second trimester to 14% in mid-third trimester due to a tenfold higher elimination rate (39%) than incidence rate (4%). Heavy smokers (> 10/d) in early pregnancy were at increased risk (5.3 [1.1–25]) for the acquisition of BV during pregnancy, as were women receiving public benefits (4.8 [1.0–22]), having a vaginal pH above 4.5 (6.3 [1.4–29]) or vaginal anaerobe bacteria (18 [2.7–122]) at enrollment. A previous use of combined oral contraceptives was preventive for the acquisition of BV (0.2 [0.03–0.96]). Elimination of BV in pregnancy tended to be associated with a heavy growth of Lactobacillus (3.2 [0.8–13]) at enrollment. Conclusions: acquisition of BV during pregnancy is rare and is associated with smoking, while the presence of anaerobe bacteria and a vaginal pH > 4.5 are interpreted as steps on a gradual change towards BV. In the same way heavy growth of Lactobacillus spp in early pregnancy may be an indicator of women on the way to eliminate BV

Differentiating and quantifying carbonaceous (tire, bitumen, and road marking wear) and non-carbonaceous (metals, minerals, and glass beads) non-exhaust particles in road dust samples from a traffic environment

Tires, bitumen, and road markings are important sources of traffic-derived carbonaceous wear particles and microplastic (MP) pollution. In this study, we further developed a machine-learning algorithm coupled to an automated scanning electron microscopy/energy dispersive X-ray spectroscopy (SEM/EDX) analytical approach to classify and quantify the relative number of the following subclasses contained in environmental road dust: tire wear particles (TWP), bitumen wear particles (BiWP), road markings, reflecting glass beads, metallics, minerals, and biogenic/organics. The method is non-destructive, rapid, repeatable, and enables information about the size, shape, and elemental composition of particles 2–125 μm. The results showed that the method enabled differentiation\ua0between TWP and BiWP for particles > 20 μm with satisfying results. Furthermore, the relative number concentration of the subclasses was similar in both analyzed size fractions (2–20 μm and 20–125 μm), with minerals as the most dominant subclass (2–20 μm x̄ = 78%, 20–125 μm x̄ = 74%) followed by tire and bitumen wear particles, TBiWP, (2–20 μm x̄ = 19%, 20–125 μm x̄ = 22%). Road marking wear, glass beads, and metal wear contributed to x̄ = 1%, x̄ = 0.1%, and x̄ = 1% in the 2–20-μm fraction and to x̄ = 0.5%,x̄ = 0.2%, and x̄ = 0.4% in the 20–125-μm fraction. The present results show that road dust appreciably consists of TWP and BiWP within both the coarse and the fine size fraction. The study delivers quantitative evidence of the importance of tires, bitumen, road marking, and glass beads besides minerals and metals to wear particlesand MP pollution in traffic environments based on environmental (real-world) sample

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study

Objective: To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general implementation of NIPT. Method: A questionnaire addressing the research objectives was distributed by email to fetal medicine and clinical genetics experts in Asia, Australia, Europe and the USA. Results: Guidelines on NIPT are available in the majority of the included countries. Not all existing guidelines address reporting of fetal chromosomal sex and SCAs. In most settings, NIPT frequently includes sex chromosomes (five Australian states, China, Hong Kong, Israel, Singapore, Thailand, USA and 23 of 31 European countries). This occurs most often by default or when parents wish to know fetal sex. In most settings, a potential SCA is reported by stating the risk hereof as “low” or “high” and/or by naming the SCA. Less than 50% of all pregnant women receive NIPT according to respondents from three Australian states, China, Israel, Singapore, Thailand and 24 of 31 European countries. However, this percentage, the genomic coverage of NIPT and its application as primary or secondary screening vary by setting. Conclusion: In most of the studied countries/states, NIPT commonly includes sex chromosomes. The reporting practices concerning fetal chromosomal sex and SCAs are diverse and most commonly not addressed by guidelines. In general, NIPT is variably implemented across countries/states

Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

Introduction: Currently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0-3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non-invasive prenatal test (NIPT) results. Material and methods: A retrospective study and meta-analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018. Results: A total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta-analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%-21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies–1:21 (4.8% [95% CI 3.2%-7.3%]). However, it may be substantially lowered if a genome-wide 10-Mb resolution NIPT test was offered (~1:464). Conclusions: Based on these data, we suggest that the NT cut-off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome-wide >10-Mb resolution NIPT test, which detects most aberrations, could be proposed

The Iowa Homemaker vol.22, no.1

Keeping Up With Today, page 2 Meat – to the Front, Dorothy Ann Roost, page 3 When Defense Workers Eat, Marjorie Beneke, page 4 “Martha Duncan Says to You”, Julie Wendel, page 5 Design for Spring, Trymby Calhoun, page 6 Homemaking on the Test, Katherine Kaufman, page 8 A Textiles Journalist Talks Shop, Ida Halpin, page 9 What’s New in Home Economics, Ruth Vogel, page 10 Dress for Action, Betty Roth, page 12 Army Health Marches On, Marabeth Porter, page 13 Departmental Highlights, Lila Williamson, page 14 Across Alumnae Desks, Mary Ellen Sullivan, page 15 A Book for Home Managers, Helen Pundt, page 16 Alums in the News, Harriet Zook, page 18 Bookmarks, Eileen Dudgeon, page 19 Victory Shipments Advance, Bernadine Nelson, page 2