Intubation Using C-MAC Video Laryngoscope During Ex Utero Intrapartum Treatment Featuring Upper Airway Neck Mass: A Case Report.

Ex utero intrapartum treatment procedures are mainly indicated to secure the airways of fetuses featuring a risk of obstruction at birth while ensuring uteroplacental circulation. This report documents a successful intubation case with a C-MAC video laryngoscope during an ex utero intrapartum treatment procedure in a newborn featuring an infiltrative neck mass. Despite technical challenges faced in this procedure, the C-MAC video laryngoscope allowed an optimal view of airway structures. This novel approach, where laryngoscopy relies on the usage of C-MAC to optimize intubation conditions, may lead to increased chances of success in this particular scenario.

BPI-fold (BPIF) containing/plunc protein expression in human fetal major and minor salivary glands.

The aim of this study was to determine expression, not previously described, of PLUNC (palate, lung, and nasal epithelium clone) (BPI-fold containing) proteins in major and minor salivary glands from very early fetal tissue to the end of the second trimester and thus gain further insight into the function of these proteins. Early fetal heads, and major and minor salivary glands were collected retrospectively and glands were classified according to morphodifferentiation stage. Expression of BPI-fold containing proteins was localized through immunohistochemistry. BPIFA2, the major BPI-fold containing protein in adult salivary glands, was detected only in the laryngeal pharynx; the lack of staining in salivary glands suggested salivary expression is either very late in development or is only in adult tissues. Early expression of BPIFA1 was seen in the trachea and nasal cavity with salivary gland expression only seen in late morphodifferentiation stages. BPIFB1 was seen in early neural tissue and at later stages in submandibular and sublingual glands. BPIFA1 is significantly expressed in early fetal oral tissue but BPIFB1 has extremely limited expression and the major salivary BPIF protein (BPIFA2) is not produced in fetal development. Further studies, with more sensitive techniques, will confirm the expression pattern and enable a better understanding of embryonic BPIF protein function.

BPI-fold (BPIF) containing/plunc protein expression in human fetal major and minor salivary glands

Abstract The aim of this study was to determine expression, not previously described, of PLUNC (palate, lung, and nasal epithelium clone) (BPI-fold containing) proteins in major and minor salivary glands from very early fetal tissue to the end of the second trimester and thus gain further insight into the function of these proteins. Early fetal heads, and major and minor salivary glands were collected retrospectively and glands were classified according to morphodifferentiation stage. Expression of BPI-fold containing proteins was localized through immunohistochemistry. BPIFA2, the major BPI-fold containing protein in adult salivary glands, was detected only in the laryngeal pharynx; the lack of staining in salivary glands suggested salivary expression is either very late in development or is only in adult tissues. Early expression of BPIFA1 was seen in the trachea and nasal cavity with salivary gland expression only seen in late morphodifferentiation stages. BPIFB1 was seen in early neural tissue and at later stages in submandibular and sublingual glands. BPIFA1 is significantly expressed in early fetal oral tissue but BPIFB1 has extremely limited expression and the major salivary BPIF protein (BPIFA2) is not produced in fetal development. Further studies, with more sensitive techniques, will confirm the expression pattern and enable a better understanding of embryonic BPIF protein function.

Desarrollo de Cara y Cuello en Vertebrados / Face and Neck Development in Vertebrates

El desarrollo embrionario de las regiones facial, del cuello, cavidades nasales y oral en conjunto con las glándulas asociadas, involucra el crecimiento y fusión tridimensional de múltiples procesos. Existe participación de elementos derivados de las 3 capas embrionarias locales y adicionalmente de células derivas de la cresta neural, procedentes de los rombómeros vecinos. Estas últimas se ven involucradas en la formación del esqueleto local, entre otras estructuras. El estudio evolutivo desde los vertebrados sin mandíbula nos enseña como se expresan los genes Hox en las diferentes especies, y como esto determina la formación de diferentes estructuras. En la siguiente revisión contemplamos algunos aspectos morfológicos, moleculares y evolutivos básicos del desarrollo facial y cervical, con énfasis en mamíferos con un epílogo referente a las malformaciones de la región en humanos.

The embryonic development of the facial area, neck, nasal, oral and pharyngeal cavities with glands, involves growth and fusion of multi-dimensional processes. There is involvement of elements from the embryo-derived local 3 layers cells further neural crest derived cells from the neighbors rhombomeres. The neural crest cells are involved in the formation of local skeleton, among other structures. The study of evolution from jawless vertebrates shows us how Hox genes are expressed in different species, and how this determines the formation of different structures. The following review contemplate some morphological, molecular and evolutionary basis of facial and neck development, with emphasis on mammals with an epilogue concerning to the face and neck malformations in humans.

Neural crest does not contribute to the neck and shoulder in the axolotl (Ambystoma mexicanum).

BACKGROUND: A major step during the evolution of tetrapods was their transition from water to land. This process involved the reduction or complete loss of the dermal bones that made up connections to the skull and a concomitant enlargement of the endochondral shoulder girdle. In the mouse the latter is derived from three separate embryonic sources: lateral plate mesoderm, somites, and neural crest. The neural crest was suggested to sustain the muscle attachments. How this complex composition of the endochondral shoulder girdle arose during evolution and whether it is shared by all tetrapods is unknown. Salamanders that lack dermal bone within their shoulder girdle were of special interest for a possible contribution of the neural crest to the endochondral elements and muscle attachment sites, and we therefore studied them in this context. RESULTS: We grafted neural crest from GFP+ fluorescent transgenic axolotl (Ambystoma mexicanum) donor embryos into white (d/d) axolotl hosts and followed the presence of neural crest cells within the cartilage of the shoulder girdle and the connective tissue of muscle attachment sites of the neck-shoulder region. Strikingly, neural crest cells did not contribute to any part of the endochondral shoulder girdle or to the connective tissue at muscle attachment sites in axolotl. CONCLUSIONS: Our results in axolotl suggest that neural crest does not serve a general function in vertebrate shoulder muscle attachment sites as predicted by the "muscle scaffold theory," and that it is not necessary to maintain connectivity of the endochondral shoulder girdle to the skull. Our data support the possibility that the contribution of the neural crest to the endochondral shoulder girdle, which is observed in the mouse, arose de novo in mammals as a developmental basis for their skeletal synapomorphies. This further supports the hypothesis of an increased neural crest diversification during vertebrate evolution.

First-trimester sonographic findings in trisomy 18: a review of 53 cases.

OBJECTIVE: To report our experience with first-trimester sonographic findings in pregnancies complicated by trisomy 18. METHODS: Proven cases of trisomy 18 undergoing sonographic examination between 11 + 0 and 13 + 6 weeks of gestation were retrospectively identified. Information on maternal demographics, prenatal sonographic findings, and chromosomal analysis results was obtained by reviewing the ultrasound reports and medical records. RESULTS: During the 12-year period from July 1997 to June 2009, 53 cases of full trisomy 18 had first-trimester sonographic examination performed at our institution. All but one fetus displayed one or more abnormal sonographic finding, most commonly increased nuchal translucency thickness (n = 48, 91%). Absent or hypoplastic nasal bone was documented in 53% of the fetuses in which this marker was specifically looked for. Structural anomalies included omphalocele in 11 (21%), abnormal posturing of the hands in three (6%), megacystis in two (4%), and abnormal four-chamber view of the heart in two (4%). Early-onset fetal growth restriction and bradycardia were documented in 14 (26%) and 4 (8%) of the cases, respectively. CONCLUSIONS: Our study demonstrates that a large number of fetuses with trisomy 18 have abnormal sonographic findings in the first trimester. However, the sonographic features usually found in the second-trimester are difficult to detect at an early gestational age. The recognition of the specific first-trimester sonographic pattern of trisomy 18 may allow improved detection of this serious condition in early pregnancy.

[Discordant nuchal translucency in monochorionic twin pregnancy. A case report]. / Nuca translúcida incongruente con embarazo gemelar monocigótico. Comunicación de un caso.

The twin-to-twin transfusion syndrome is a serious anomaly occurring from vessels anastomosis between the fetal-planetary circulations of monochorionic twin pregnancies with a high perinatal morbidity and mortality. In the first trimester, the presence of discordant increase of the nuchal translucency associated a reverse blood flow in the ductus venosus are marks of twin-to-twin transfusion syndrome. In this report, we related a case of monochorionic twin pregnancy in the first trimester in that the first diagnostic signal this syndrome was an increase of the measurement of nuchal translucency, associated the reverse blood flow in the ductus venosus of receiving fetus.

Teratogenic vulnerability of Wistar rats to diphenyl ditelluride.

The effect of single maternal subcutaneous (s.c.) injection of 0.12 mg/kg diphenyl ditelluride, (PhTe)2, diluted in canola oil at days 6, 10 or 17 of gestation were evaluated in Wistar rats. The reduction of body weight gain was statistically significant at GD9, for the dams that received (PhTe)2, at GD6; at GD13, for the dams that received (PhTe)2, at GD10, and at GD20, for the dams that received (PhTe)2, at GD17, when compared to respective control groups. External and internal fetal soft tissues examination was performed on day 20 of gestation. Single maternal injection at day 10 of gestation resulted in appearance of malformation in fore- and hind-limbs, absent or short tail, subcutaneous blood clots, exophthalmia, hydrocephalus and absence of the cranial bone and cutaneous tissue in fetuses on day 20 of gestation. Besides, (PhTe)2 reduced fetal body and cerebral weight, kidney length, measurements of body dimension and provoked 73% of fetal mortality. Subcutaneous administration of (PhTe)2 on day 17 of gestation was associated with 94% mortality, hydrocephalus and edema. Histological evaluations of fetal brain demonstrated displaced brain tissue with absence of the cranial bone and cutaneous tissue when diphenyl ditelluride was administered in GD10. Histological evaluation of fetal head exposed at GD17 revealed a decrease of the brain volume with consequent dilation of the lateral ventricles and the adjacent tissues were thinner than that of control group tissues. No fetal changes were observed after administration of (PhTe)2 at day 6 of gestation. Thus, (PhTe)2 can be teratogenic to rat fetuses and toxic for dams. The late fetal stages of rat prenatal development appeared uniquely sensitive to organic tellurium exposure.

Circular cervical revisitada / Nuchal cord revisited

O Presente trabalho procurou identificar na literatura a existência de possíveis evidências científicas capazes de esclarecer o significado clínico e as implicações da presença da circular cervical durante a gravidez. A maioria dos trabalhos relacionados nesta revisão sugere a presença de comprometimento do bem-estar fetal, entretanto os dados não apresentam significância estatística na sua totalidade e carecem de rigor científico. Por outro lado, é nítida a carência de trabalhos que confirmam a inexistência destas complicações quando a circular cervical está presente. Com base nesta revisão, os autores sugerem conduta clínica para o acompanhamento das gravidezes com circular cervical, adequando-as às situações de baixo e de alto risco gestacional

Structural and functional cardiac abnormalities identified prior to 16 weeks' gestation in fetuses with increased nuchal translucency.

OBJECTIVE: To determine the accuracy and practicality of fetal echocardiography in the identification of structural and functional cardiac abnormalities prior to 16 weeks' gestation in fetuses with increased nuchal translucency thickness (NT). METHODS: Between January 1996 and June 2002 early fetal echocardiography using the transvaginal route was performed at 12-16 weeks' gestation on 275 fetuses with increased NT. The abnormal cardiac findings were classified as either structural (congenital heart defects) or functional, defined as transient phenomena which might later disappear, such as isolated tricuspid regurgitation and an enlarged ascending aorta. The abnormal findings were related to pregnancy outcome, including autopsy results, karyotyping results, and late fetal and neonatal echocardiography. RESULTS: Cardiac abnormalities were present in 61 fetuses overall (22.2%); including structural cardiac defects in 37 fetuses (13.5%) and functional abnormalities in 24 fetuses (8.7%). Structural cardiac abnormalities were associated with abnormal karyotype in 24 fetuses and normal karyotype in 13 fetuses. Of the 24 fetuses with functional cardiac abnormalities, 2 (8.3%) had isolated tricuspid regurgitation and 22 (91.7%) had enlarged ascending aorta. Abnormal karyotype was present in this group in 4 cases (16.7%). CONCLUSION: Increased NT can be used to define a high-risk group that should receive specialized early fetal echocardiography. This is a reliable technique with great potential for the diagnosis of both structural and functional cardiac abnormalities.

Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester.

In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three fetuses had an unbalanced translocation and all were associated with increased nuchal translucency and multiple anomalies at the detailed second-trimester scan. There were no survivors in this group. The remaining four fetuses had a balanced translocation; all had normal nuchal translucency thickness and no structural anomalies were detected in the second trimester. Three of these fetuses were born at > or =35 weeks of gestation and were phenotypically normal. However, an unexpected single fetal demise occurred in a dichorionic twin pregnancy at 28 weeks of gestation. It is concluded that nuchal translucency measurements provide important prognostic information on pregnancy outcome in first-trimester fetuses with a chromosome translocation. In parents with a known balanced translocation, the detection of increased nuchal translucency at 11-14 weeks of gestation is associated with unbalanced translocations, structural anomalies and poor pregnancy outcome.

First-trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population.

OBJECTIVES: To examine the detection rate of chromosomal abnormalities using nuchal translucency (NT) thickness in a Brazilian population. METHODS: This was a prospective study of 2996 singleton pregnancies with a live fetus at 10-14 weeks of gestation attending for routine antenatal care in a teaching hospital in Brazil. Fetal crown-rump length (CRL) and NT thickness were measured and the risks for trisomy 21 were calculated by a combination of maternal age and fetal NT with the use of software provided by The Fetal Medicine Foundation. Sensitivity and positive predictive values for different risk cut-offs were calculated. RESULTS: Chromosomal defects were diagnosed in 22 cases, including 10 cases of trisomy 21. The estimated risk based on maternal age and fetal NT was 1 in 300 or greater in 222 (7.4%) cases and these included nine of 10 (90.0%) pregnancies with trisomy 21 and nine of 12 (75.0%) pregnancies with other chromosomal defects. The NT was above the 95th centile in 5.8% of cases and this group included 70% of the trisomy 21 cases. CONCLUSION: A combination of maternal age and fetal NT provides an effective method of screening for chromosomal defects. The performance of the test in a Brazilian population is similar to that in Britain.