scholarly journals Clinical findings and molecular cytogenetic characterization of 19q13.42 microduplication: three cases report and literature review

2020 ◽  
Author(s):  
Xinyue Zhang ◽  
Fagui Yue ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Jing He ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Nuchal Translucency ◽  
Clinical Findings ◽  
Causative Role ◽  
Healthy Children ◽  
Long Term Follow Up ◽  
Cytogenetic Characterization ◽  
First Time

Abstract BackgroundTrisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Case presentationThree pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency (case 2) and high risk of trisomy 21 (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. Case 2 inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype-phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities.ConclusionsThe 19q13.42 microduplications in our study are the smallest fragments compared to previous literature. We delineated 19q duplication cases without structural ultrasound anomalies for the first time, which enriched the prenatal phenotypes of this chromosomal aberration. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

scholarly journals Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xinyue Zhang ◽  
Fagui Yue ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Jing He ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Causative Role ◽  
Healthy Children ◽  
Maternal Serum Screening ◽  
Long Term Follow Up ◽  
Cytogenetic Characterization

Abstract Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. Case presentation Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445 Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype–phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities. Conclusions The 19q13.42 microduplications in our study were the smallest fragments compared to previous literature. Our findings enriched the prenatal phenotypes for this chromosomal microscopic imbalance. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

Severe Trombiculiasis in Hunting Dogs Infested With Neotrombicula inopinata (Acari: Trombiculidae)

2019 ◽  
Vol 56 (5) ◽  
pp. 1389-1394 ◽  
Author(s):  
M Areso Apesteguía ◽  
J B Areso Portell ◽  
N Halaihel Kassab ◽  
M J Gracia Salinas
Keyword(s):  
Clinical Symptoms ◽  
Mite Species ◽  
Clinical Findings ◽  
Risk Area ◽  
Hunting Dogs ◽  
Natural Park ◽  
Large Numbers ◽  
La Rioja ◽  
First Time ◽  
Fast Acting

Abstract This study records the clinical findings in nine hunting dogs showing systemic illness associated with trombiculids and identifies the mite species involved. In fall, coinciding with the seasonality of mites, all dogs were infested with mites and had been in the risk area (Sierra Cebollera Natural Park, La Rioja, Spain) a few hours before the onset of symptoms. The symptoms included vomiting, anorexia, weakness and lethargy, diarrhea, and even stupor. The clinical picture was fast-acting and potentially fatal. The infestations varied from low to severe. Molecular analysis of mites that fed on the dogs confirmed that they were larvae of Neotrombicula inopinata (Oudemans, Acari, Trombiculidae). This is the first time that N. inopinata has been identified as feeding on dogs and implicated in canine systemic illness associated with trombiculids. In contrast to other chiggers, N. inopinata does not seem to cause dermatitis. Likewise, the clinical and epidemiological similarity between the clinical symptoms we describe herein and the occurrence of seasonal canine illness (SCI) led us to suspect that this illness may be caused by infestation with these mites. The condition could be the consequence of severe infestation from large numbers of feeding mites, especially N. inopinata. Whether or not the cases were due to a severe allergic host response to salivary proteins or the result of the transmission of a new or emerging trombiculid-borne pathogen is not known.

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

2009 ◽  
Vol 3 (3) ◽  
pp. 83-90 ◽  
Author(s):  
L Orosz ◽  
J Lukács ◽  
M Szabó ◽  
T Kovács ◽  
I Zsupán ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Healthy Children ◽  
Cardiac Defects ◽  
Long Term Outcome ◽  
Long Term Follow Up ◽  
Minor Anomalies ◽  
Increased Nuchal Translucency

Abstract Objectives The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT. Results The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion. Conclusion The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.

Some Clinical Manifestations and Laboratory Findings of Human Gigantica Fascioliasis in Pregnant Women and Children in Central-Coastal Provinces, Vietnam, 2003-2017

2019 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Fasciola Gigantica ◽  
World Health ◽  
Laboratory Findings ◽  
Laboratory Parameters ◽  
Women And Children

Introduction: Fascioliasis is a disease of the hepatobiliary system, caused by Fasciola spp that are increasing and threating of public health in the tropic areas, including of Central coastal of Vietnam. World Health Organisation estimates that at least 2.4 million people are infected in more than 70 countries worldwide, with several million at risk, and particularly, no continent is free from fascioliasis. This study carried out to evaluate several typical clinical and paracinical aspects in the pregnant women and children groups with fascioliasis. Methods: With the descriptive cross-sectional study design, and sample size in line with hospital based data. Results: the data post-analysis showed that total of 94 pregnant women and 212 child with gigantica fascioliasis were enrolled:- In the pregnant women group: the major clinical symptoms of epigastric and Chauffard Rivet triangle pain (95.74%), subshoulder muscle pain (97.87%), gastrointestinal disturbances as abdominal pain plus constipation (14.89%), loosed stool (22.34%), nausea and/or vomit (29.78%), mild fever (68%), allergic reaction with pruritis and urticaria (64.89%), mild anemia (4.26%), rare symptoms may be hepatomegaly (6.38%), chest pain, dyspnoea (43.62%), jaundice (2.13%); Laboratory parameters were positive ELISA test with Fasciola gigantica antigen (95.74%), hepatobiliary lesions by ultrasound (97.87%), majority in right liver (90.32%), eosinophilia is the predominant indicator (90.42%), In the children group: the clinical manifestations included of epigastric and Chauffard-Rivet area pain (94.34%), flatuence, nausea and intermittent vomiting (76.41%), digestive disoders (40.57%), allergy (30.66%), fatigue plus weight loss (12.74%); laboratory findings included of hepatobiliary lesions by US (100%), positive ELISA with Fasciola gigantica antigen (96.70%), eosinophil of 93.39% and 1.90% positive copro-examination with Fasciolae eggs. Conclusions: In pregnant women, symptoms are indistinguishable from hepatobiliary, digestive tract diseases or overlap with gestation terrains, and clinical signs of paediatric fascioliasis may mimic a wide spectrum of hepatobiliary disorders laboratory parameters and imaging diagnostics, especially in FasELISA, hypereosinophilia and liver lesions by ultrasound were very useful in positive diagnosis.

Cephalic Tetanus: A Rare Case Report

2020 ◽  
Vol 66 (5) ◽  
pp. 549-552
Author(s):  
Zafer Bağcı
Keyword(s):  
Clinical Symptoms ◽  
Cranial Nerves ◽  
Clinical Findings ◽  
Local Tetanus ◽  
First Case ◽  
Rare Case Report ◽  
Focus Of Infection ◽  
Cephalic Tetanus ◽  
First Time ◽  
Disease Focus

Abstract Introduction Tetanus is a preventable infectious disease with vaccination. Cephalic tetanus is the rarest form in which local tetanus can involve the cranial nerves. Case Herein, we report a case of cephalic tetanus in a 16-month-old girl who had never been vaccinated. The patient, who had a complaint of a wound on the cheek mucosa for 2 weeks, was seen playing with the soil in the garden 1 week ago and was found to have abundant soil removed by her mother. The patient was diagnosed as cephalic tetanus according to her complaints and clinical findings. Discussion We believe that, this is the first case reported in the literature of cephalic tetanus in such a young child wherein the disease focus of infection from a wound on the cheek mucosa. The symptom we defined as ‘a child who cries when she smiles’ presented in this case could only be associated with this disease. Conclusion In addition to detailed anamnesis and meticulous physical examination, the clinical symptoms that we have described for the first time in a child with cephalic tetanus should also be considered for early and accurate diagnosis.

Mode of Delivery and Clinical Findings in COVID-19 Infected Pregnant Women in Northern Italy

2020 ◽  
Author(s):  
Enrico Ferrazzi ◽  
Luigi Frigerio ◽  
Valeria Savasi ◽  
Patrizia Vergani ◽  
Federico Prefumo ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Mode Of Delivery ◽  
Clinical Findings ◽  
Northern Italy

scholarly journals Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift

2021 ◽  
Vol 11 (2) ◽  
pp. 70
Author(s):  
Cristina Panisi ◽  
Franca Rosa Guerini ◽  
Provvidenza Maria Abruzzo ◽  
Federico Balzola ◽  
Pier Mario Biava ◽  
...  
Keyword(s):  
Paradigm Shift ◽  
Genetic Model ◽  
Time Window ◽  
Wide Spectrum ◽  
Autism Spectrum ◽  
Clinical Findings ◽  
Theoretical Issue ◽  
Common Thread ◽  
Spectrum Disorders ◽  
Interdisciplinary Healthcare

The wide spectrum of unique needs and strengths of Autism Spectrum Disorders (ASD) is a challenge for the worldwide healthcare system. With the plethora of information from research, a common thread is required to conceptualize an exhaustive pathogenetic paradigm. The epidemiological and clinical findings in ASD cannot be explained by the traditional linear genetic model, hence the need to move towards a more fluid conception, integrating genetics, environment, and epigenetics as a whole. The embryo-fetal period and the first two years of life (the so-called ‘First 1000 Days’) are the crucial time window for neurodevelopment. In particular, the interplay and the vicious loop between immune activation, gut dysbiosis, and mitochondrial impairment/oxidative stress significantly affects neurodevelopment during pregnancy and undermines the health of ASD people throughout life. Consequently, the most effective intervention in ASD is expected by primary prevention aimed at pregnancy and at early control of the main effector molecular pathways. We will reason here on a comprehensive and exhaustive pathogenetic paradigm in ASD, viewed not just as a theoretical issue, but as a tool to provide suggestions for effective preventive strategies and personalized, dynamic (from womb to adulthood), systemic, and interdisciplinary healthcare approach.

scholarly journals Remdesivir Treatment for COVID 19 in Pregnant Patients with Moderate to Severe Symptoms: Serial Case Report

2021 ◽  
Vol 13 (2) ◽  
pp. 437-443
Author(s):  
Yudianto Budi Saroyo ◽  
Amanda Rumondang ◽  
Irene Sinta Febriana ◽  
Achmad Kemal Harzif ◽  
Rima Irwinda
Keyword(s):  
Adverse Effects ◽  
Adverse Events ◽  
Pregnant Women ◽  
Clinical Symptoms ◽  
Recovery Period ◽  
Rapid Improvement ◽  
Major Health Problem ◽  
Hospitalization Period ◽  
Duration Of Hospitalization ◽  
Novel Coronavirus

Introduction: Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) infection that causes novel Coronavirus Disease 2019 (COVID-19) has become a major health problem worldwide and been declared a pandemic since March 2020 by WHO. One special population that poses a challenge is pregnant women with COVID-19. There have not been many studies related to COVID-19 in pregnancy. In this study, we present five serial cases of Remdesivir treatment for COVID-19 in pregnant women with moderate to severe symptoms. Case Illustration: We briefly describe five serial cases being treated with Remdesivir therapy during hospitalization. Four cases were delivered by cesarean section, and one was delivered vaginally in gestation week 37. All cases showed a shortened duration of hospitalization, rapid improvement in clinical symptoms, and no adverse events were observed in mothers, fetuses, and neonates. Discussion: Remdesivir, an inhibitor RNA Polymerase, has been used in COVID-19 treatment and is known to shorten recovery time in nonpregnant women. Some studies have shown no adverse effects on Remdesivir for pregnant women. Based on randomized control trial (RCT) during the Ebola epidemic, Remdesivir was safe to use for pregnant women. All cases showed reduced hospitalization time and better clinical outcomes without maternal, fetal, or neonatal adverse events. Conclusion: Remdesivir protocol for pregnant women with moderate to severe symptoms of COVID-19 has resulted in better clinical improvement with a shorter recovery period and no adverse effects during the hospitalization period. Further studies and RCT are warranted to evaluate the biosafety and effects of Remdesivir in pregnant women.

scholarly journals A rational approach to the diagnosis of polycystic ovarian syndrome during adolescence

2011 ◽  
Vol 55 (8) ◽  
pp. 590-598 ◽  
Author(s):  
Paulina M. Merino ◽  
Ethel Codner ◽  
Fernando Cassorla
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Rational Approach ◽  
Adult Women ◽  
Ovulatory Dysfunction ◽  
Ovarian Morphology ◽  
Key Factor ◽  
Symptoms And Signs ◽  
Ovarian Syndrome

Polycystic ovarian syndrome (PCOS) is a lifelong disorder characterized by hyperandrogenism and ovulatory dysfunction, with a wide spectrum of clinical symptoms and signs. Three different sets of diagnostic criteria have been established in order to define this disease in adult women, but there is controversy regarding the use of these criteria in adolescence. During puberty, the adult criteria for ovulatory dysfunction does not seem applicable, because an irregular menstrual pattern and a decreased ovulatory rate is a physiologic event during this period of life. Also, a higher prevalence of polycystic ovarian morphology (PCOM) may be observed during this period, so PCOM is not a useful criterion to define PCOS in young women. These findings suggest that a key factor to diagnose to PCOS during adolescence is hyperandrogenism. In addition, since PCOM is not clearly associated with hyperandrogenism during this period of life, the term "polycystic ovarian syndrome" during adolescence creates confusion and may be misleading.

scholarly journals Genetic and Antigenic Characterization of Avian Avulavirus Type 6 (AAvV-6) Circulating in Canadian Wild Birds (2005–2017)

Viruses ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 543
Author(s):  
Tamiko Hisanaga ◽  
Catherine Soos ◽  
Nicola Lewis ◽  
Oliver Lung ◽  
Matthew Suderman ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Fusion Gene ◽  
Full Genome ◽  
Genome Sequences ◽  
Viral Shedding ◽  
Genetic Groups ◽  
Antigenic Characterization ◽  
Specific Pathogen ◽  
First Time

We describe for the first time the genetic and antigenic characterization of 18 avian avulavirus type-6 viruses (AAvV-6) that were isolated from wild waterfowl in the Americas over the span of 12 years. Only one of the AAvV-6 viruses isolated failed to hemagglutinate chicken red blood cells. We were able to obtain full genome sequences of 16 and 2 fusion gene sequences from the remaining 2 isolates. This is more than double the number of full genome sequences available at the NCBI database. These AAvV-6 viruses phylogenetically grouped into the 2 existing AAvV-6 genotype subgroups indicating the existence of an intercontinental epidemiological link with other AAvV-6 viruses isolated from migratory waterfowl from different Eurasian countries. Antigenic maps made using HI assay data for these isolates showed that the two genetic groups were also antigenically distinct. An isolate representing each genotype was inoculated in specific pathogen free (SPF) chickens, however, no clinical symptoms were observed. A duplex fusion gene based real-time assay for the detection and genotyping of AAvV-6 to genotype 1 and 2 was developed. Using the developed assay, the viral shedding pattern in the infected chickens was examined. The chickens infected with both genotypes were able to shed the virus orally for about a week, however, no significant cloacal shedding was detected in chickens of both groups. Chickens in both groups developed detectable levels of anti-hemagglutinin antibodies 7 days after infection.

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