Risk factors for failure of the first intubation attempt during cardiopulmonary resuscitation in out-of-hospital emergency settings: What about chest compression?

Should genetic screening be conducted for autism spectrum disorder?A case report of a 20 months old child

Holoprosencephaly is a rare congenital malformation characterized by the failure of the forebrain to divide into two hemispheres. Cebocephaly is a form of craniofacial abnormality associated with holoprosencephaly, marked by hypotelorism (closely spaced eyes) and a malformed nose-often small, flattened, or presenting as a single imperforate nostril. This case highlights the diagnostic challenges and clinical outcomes associated with severe holoprosencephaly accompanied by cebocephaly in a preterm neonate. We report a case of alobar holoprosencephaly diagnosed via obstetric ultrasound in the third trimester. The neonate was born prematurely and presented with polyhydramnios and multiple congenital anomalies. On examination, the infant had microcephaly, hypotelorism, anophthalmia, and a small nose with a single imperforate nostril. Based on clinical and radiographic findings, the diagnosis of alobar holoprosencephaly with cebocephaly was confirmed. The parents were counselled extensively regarding the presence of multiple congenital anomalies, likely hypoxic-ischemic encephalopathy, and the poor prognosis for survival and quality of life. After a multidisciplinary discussion involving the medical team and the family, palliative care was initiated. The neonate passed away one hour after birth. This case underscores the importance of prenatal diagnosis, multidisciplinary management, and compassionate parental counselling in cases involving severe congenital anomalies such as holoprosencephaly and cebocephaly.

Robinow syndrome, also known as “facies fetal” syndrome, is a rare genetic syndrome – Incidence is 1 in 500,000 cases. The general characteristics are represented by short stature and various abnormalities of the head, face, heart and skeleton, as well as developmental disorders of the external genitalia. We present a three-year-old male child who presents with short stature, brachydactyly, facial dysmorphism (hypertelorism, micrognathia, widened nasal bridge, small nose), scaphocephaly (closed anterior fontanelle at 9 months), hypoplastic scrotum and testicles. Due to the involvement of the physical presentation it was diagnosed as autosomal dominant Robinow syndrome, type 3, after genetics consultation soon after birth. He is now on follow up and planned for a treatment with rhGH after 4 yers old.

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects growth, development and various body systems, with symptoms ranging from mild to severe. The condition is marked by distinctive facial features such as arched eyebrows, long eyelashes, a small nose and a thin upper lip. Growth delays are noticeable both before and after birth, leading to short stature. Affected individuals often have limb abnormalities, including missing or underdeveloped fingers and toes, as well as cognitive impairments that can vary from mild to severe. CdLS is caused by mutations in genes crucial for early development, particularly those involved in forming facial, limb and brain structures. The most common mutations occur in the NIPBL, SMC1A and SMC3 genes, although other genetic factors may also contribute. These mutations disrupt normal cellular functions, resulting in the physical and developmental challenges characteristic of the disorder. Effective management of CdLS requires a collaborative approach involving a team of medical professionals, therapists and educators who work together to address the diverse needs of affected individuals. This may include Physical Therapy (PT) for limb abnormalities, speech therapy and Occupational Therapy (OT) to support cognitive and developmental progress, as well as regular monitoring of growth and health. A seven-year-old child presented with involuntary eye movements (horizontal nystagmus) in both eyes since early childhood, along with global developmental delay, reduced psychomotor skills and intellectual disability. Clinical findings included a unibrow, hirsutism, long eyelashes and visual acuity of 6/60 in both eyes, improving to 6/36 with correction.

Freeman-Sheldon syndrome is a rare form of multiple congenital contracture syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis. The main skeletal malformations include camptodactyly with ulnar deviation and talipes equinovarus while facial characteristics include deep-sunken eyes with hypertelorism, increased philtrum length, small nose and nostrils, and a small mouth. Here we report a rare case of Freeman-Sheldon syndrome (FSS) in an 8-years-old patient giving emphasis on the dental management of FSS.

Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders and congenital abnormalities. ATXN7L3 is a component of the DUB module of the Spt-Ada-Gcn5 acetyltransferase (SAGA) complex and two other related DUB modules, and it serves as an obligate adaptor protein of three ubiquitin-specific proteases (USP22, USP27X or USP51). Through exome sequencing and by using GeneMatcher, we identified nine individuals with heterozygous variants in ATXN7L3. The core phenotype included global motor and language developmental delay, hypotonia and distinctive facial characteristics, including hypertelorism, epicanthal folds, blepharoptosis, a small nose and mouth, and low-set, posteriorly rotated ears. To assess pathogenicity, we investigated the effects of a recurrent nonsense variant [c.340C>T; p.(Arg114Ter)] in fibroblasts of an affected individual. ATXN7L3 protein levels were reduced, and deubiquitylation was impaired, as indicated by an increase in histone H2Bub1 levels. This is consistent with the previous observation of increased H2Bub1 levels in Atxn7l3-null mouse embryos, which have developmental delay and embryonic lethality. In conclusion, we present clinical information and biochemical characterization supporting ATXN7L3 variants in the pathogenesis of a rare syndromic neurodevelopmental disorder.

To explore the genetic etiology of a fetus with short limbs identified by prenatal ultrasonography. A fetus detected with short limb malformations at Shengjing Hospital Affiliated to China Medical University on October 25, 2021 was selected as the study subject. Prenatal ultrasound and post-abortion imaging were carried out to determine the phenotypic characteristics of the fetus. Amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected. Following extraction of genomic DNA, whole-exome sequencing was carried out. Candidate variants were verified by Sanger sequencing. Online software was used to predict the structural changes of the mutant proteins. Prenatal ultrasound showed that the fetus had a small bell-shaped thorax, markedly shortened limbs, flat midface, a small nose with anteriorly tilted nostrils, and a small mandible. Post-abortion CT showed typical short and wide fetal ribs, cupped metaphyses at both ends, short long bones with wide metaphyses, resulting in a dumbbell-shaped appearance and curved thoracic vertebrae. Whole-exome sequencing revealed that the fetus had harbored compound heterozygous variants of the COL11A1 gene, namely c.2251G>T and c.3790G>T, both of which were predicted to alter the important Gly-X-Y structure of collagen protein. Sanger sequencing confirmed that the variants were respectively inherited from its parents. A rare fetus with Fibrochondrogenesis type 1 due to compound heterozygous variants of the COL11A1 gene has been diagnosed. Above finding has enabled genetic counseling and reproductive guidance for this family.

The paper compares the performance of two bio-ester and two mineral-oil emulsion metalworking fluids (MWFs) in finish turning an Inconel 718 alloy bar with a high hardness (HB 397 – 418). In this study, a coolant with a lean concentrate diluted at 6.5% to create an emulsion with stabilised water hardness was used to prepare each MWF. The finish-turning method used a small tool nose radius (0.4 mm) and small depth of cut (0.25 mm) to turn down 52.2 mm diameter bars in multiple passes to reach a maximum tool flank wear of 200 µm. In each MWF turning test, the tool flank wear, cutting forces, and surface roughness were measured against cut time. Chips from each MWF turning test were also collected at the same cut time instances. The surface and subsurface integrity on a workpiece obtained from each MWF turning test were compared by using a new unworn tool. Overall, for the machining parameters studied, the findings suggest the bio-esters were capable of equivalent machining performance as the mineral-oil emulsions, apart from one bio-ester that displayed improved surface roughness. Common to all MWF turning tests was a change in the chip form at low flank wear, which is discussed. Further findings discussed include the sensitivity of the concentration of the MWF diluted in the emulsion and the effect of the workpiece hardness within the batch used, with useful recommendations to improve the finish-turning method for the assessment of MWFs.

This paper mainly deals with the machining operation like turning operation, Material Removal Rate and Surface Roughness are the important parameter which is to be considered for quality product. The material selected for the experiment is DELRIN 500. Turning is one of the important processes that is widely used to create cylindrical components and it is also used for surface finish the product to make it smooth. Nowadays, plastic materials are widely used for making variety of components. To make a component with high dimensional accuracy, turning operation is used. The main concerns of turning are tooling cost and the effect of process on machinability characteristics. It can be seen that the output responses value has a minimum roughness average and a high degree of geometrical quality precision. High degree surface finish is induced by medium speed, feed rate, and small nose radius. The coaxial error was minimized by using medium speed, feed and larger nose radius. Experimentally found that third specimen (RPM -750) (FEED -0.08 mm/Rev) and (NOSE RADIUS 0.8) obtained minimum geometrical error along with minimum Surface roughness. Delrin is a crystalline plastic that offers an excellent balance of properties that bridge the gap between metals and plastics. Delrin possesses high tensile strength, creep resistance and toughness. It also exhibits low moisture absorption

Prototype of Low-Cost Microvascular Clips for Laboratory Use

An 8-year-old female child was referred to our Cleft and Craniofacial centre, Department of Plastic & Reconstructive Surgery, Saveetha Medical College & Hospital, after being diagnosed with cleft palate and hyper nasal speech. She is the first child born from a non- consanguineous marriage with a birth weight of 2.6 kg. Following her, a girl and a boy were born and exhibited no apparent abnormalities. Both parents maintain a normal status, and there is no history of deformities in their family lineage. The patient underwent a typical vaginal delivery and was born at full term. At the time of birth, the child was differentially diagnosed with a neurogenic tumour in the occipital region of the skull. The child was not treated for the growth in the occiput. Patient had growth retardation, global developmental delays and features of facial dysmorphism like microcephaly, bushy and uni eyebrow, long eyelashes, low set ears, small nose, concave nasal bridge, and hirsutism. The child was subjected to an MRI brain scan in our unit and it suggested a hyperechoic lesion in the midline at C3, C4 level with an impression of Arnold Chiari malformation. Clinically, on palpation of the lesion, it approximately measured 4x3 cm, soft in consistency and the lesion hardened while coughing or sneezing and regressed back to normalcy within a few minutes. USG abdomen was done and a well-defined hypoechoic dumbbell shaped bilobed solid lesion with smooth margins with no significant vascularity was noted in the gastrohepatic region. Echocardiogram was done and it ruled out cardiac anomalies like patent ductus arteriosus or coarctation of aorta. Inspection of the oral cavity was done to diagnose the cleft of the secondary palate. (Fig. 1) Based on all features in examination and investigation, a diagnosis of Cornelia de Lange syndrome was made. The surgery was planned after a routine blood workup. The child was advised for CECT of abdomen to confirm the USG findings of abdominal anomalies, however, the report suggested cystic lymphangioma. (Fig. 2) Fitness for palatoplasty surgery was obtained from paediatrician, paediatric surgeon, neurosurgeon, cardiologist and anaesthesiologist. Under antibiotic cover, the child was operated under general anaesthesia for palatoplasty by Sommerlad’s technique. (Fig. 3 & 4) The post-operative period was uneventful.

In the digital arena, wherein younger generations predominantly spend their time, social media continues to determine what is considered beautiful. Social media, particularly Instagram (Meta, Menlo Park, CA), is becoming a prominent aspect of the plastic surgeon-patient relationship. Therefore, the beauty ideal escalates without any barriers and breaks. The majority of influencers look alike. This sets a new trend for a beauty ideal. In this study, the authors aimed to analyze the facial proportions of 100 top female beauty influencers, to evaluate them for identifying the "ideal Instagram face," and to determine whether there existed a deviation from the standard golden ratio. The authors identified the top 100 beauty influencers, according to the latest rankings of November 2022. A detailed facial analysis has been conducted using the Fiji biomedical image analysis software. The primary outcome parameters included facial proportions such as lip ratio, Ricketts' line, and nasal dimensions. Secondary outcomes comprised BMI, age, and ethnicity. The results were collected and analyzed descriptively using graphs and statistics. Complete datasets were obtained from the top 100 female beauty influencers with a mean age of 31.3 ± 6.3 years (range, 24-38 years). The majority of influencers were Americans, followed by Germans and British. Based upon the mean of the aforementioned parameters, we could design the ideal Instagram face. There was no significant difference between the golden ratio and the new trend of the ideal Instagram face. Despite the existence of varied ethnic population groups and nonstandard measurements, the ideal Instagram face represents today's ideal trending face. The ideal Instagram face is symmetrical, matching the golden ratios, with a small and neat nose, full and lush lips, high cheekbones, as also a sharp and chiseled jawline. Further studies on this topic, involving a greater number of influencers with standardized measurements, should be advocated to identify the ideal facial proportions. This will lead to improvements in invasive and noninvasive cosmetic treatments.

Maxillonasal dysplasia, known as Binder’s syndrome, is a rare congenital deformity characterised by distinctive facial features, including a malformed midface and nose, as well as abnormal positions of the nasal bones. In addition, maxillary hypoplasia, or a shorter upper jaw, and nasal abnormalities may manifest as a flattened nose. Many cases of this condition are associated with other malocclusions, and those affected can be easily identified. Individuals with Binder’s syndrome typically present with an undeveloped upper jaw, a projecting lower jaw, a smaller nose, a flat nasal bridge, and midfacial hypoplasia. This is the first case report describing a physiotherapy method for maxillonasal dysplasia. Hereby, the authors present a case report of a six-month-old male child with Binder’s syndrome who exhibited delayed developmental milestones and physical anomalies. The child’s mother had a complicated pregnancy, culminating in an emergency caesarean section due to preterm premature rupture of membranes. The infant, born with Binder’s syndrome and a cleft palate, displayed poor head control, an inability to roll, and reluctance to engage in sensory interactions. Examination revealed bilateral cortical thumbs, hip joint abnormalities, and heightened sensitivity to touch. Magnetic Resonance Imaging (MRI) findings indicated semilobar Holoprosencephaly (HPE) and dysgenesis of the corpus callosum. Physiotherapeutic interventions focused on parent education and home exercise programs targeting developmental milestones. Over the course of two months, the infant showed significant progress in head control and rolling. Furthermore, after four months of training, the child gained sitting control. The present case underscores the importance of early intervention and parental involvement in optimising outcomes for children with Binder’s syndrome.

People can think about hypothetical impossibilities and a curious observation is that some impossible conditionals seem true and others do not. Four experiments test the proposal that people think about impossibilities just as they do possibilities, by attempting to construct a consistent simulation of the impossible conjecture with its suggested outcome, informed by their knowledge of the real world. The results show that participants judge some impossible conditionals true with one outcome, for example, “if people were made of steel, they would not bruise easily” and false with the opposite outcome, “if people were made of steel they would bruise easily”, and others false with either outcome, for example, “if houses were made of spaghetti, their engines would (not) be noisy”. However, they can sometimes judge impossible conditionals true with either outcome, for example, “if Plato were identical to Socrates, he would (not) have a small nose”, or “if sheep and wolves were alike, they would (not) eat grass”. The results were observed for judgments about what could be true (Experiments 1 and 4), judgments of degrees of truth (Experiment 2), and judgments of what is true (Experiment 3). The results rule out the idea that people evaluate the truth of a hypothetical impossibility by relying on cognitive processes that compare the probability of each conditional to its counterpart with the opposite outcome.

This paper discusses a method of finish turning Inconel 718 alloy to compare machining performance of a naturally aged and used metalworking fluid (MWF), which had been conventionally managed through its life cycle, with the same new unaged product. The MWF concentrate was a new-to-market bio-ester oil, diluted with water to produce an emulsion. In the experiments, 50 mm diameter bars were turned down with multiple passes at a 250 μm depth of cut to reach a tool flank wear of 200 μm. The machining was interrupted at several stages to measure the flank wear and compare the chip forms for the aged and unaged MWF. The method of finish turning used a small tool nose radius and a small depth of cut that was found to be sensitive in detecting a difference in the flank wear and chip forms for the aged and unaged MWF. On the chemistry, the findings suggest that higher total hardness of the aged MWF was the cause of reduced lubricity and accelerated flank wear. This paper discusses the state of the art with the insights that underpin the finish turning method for the machinability assessment of MWFs. The findings point to stabilization of the MWF chemistry to maintain machining process capability over an extended sump life.

The present wind tunnel investigation is a part of a project studying the effectiveness of flat fin control on short-range strategic missile at high angle of attack. As a part of this program, the longitudinal aerodynamic coefficients were computed analytically and were compared with estimates obtained through wind tunnel testing. Wind tunnel tests were conducted over a range of angle of attack from -15° to +45° at a free stream speed of 60m/s. Aerodynamic coefficients were generated for various missile configurations. These coefficients were then compared with the estimates obtained analytically. It was conjectured that, at high angle of attack, vortices shaded by the body interact with the local flow near the fins and drastically alters the stability characteristics of the missile. The subject missile has a small hemispherical nose as compared to most of the missiles having conical or ogival nose. For such a configuration sufficient theoretical/experimental data are not available. Thus, it was important to generate longitudinal aerodynamic data for the range of angle of attack upto which the theoretical model can be used to evaluate the aerodynamic stiffness of the missile. Such a model structure is required for postulating aerodynamic model in estimation algorithm, used for parameter estimation from flight data of the subject missile.

This paper investigated the influence of cutting parameters, including feed rate, cutting speed, tool nose radius, and wet or dry cutting conditions, on the resultant force, cutting edge/workpiece temperature, and surface roughness when turning grey cast iron. Results showed that increasing the feed rate increased the resultant force, cutting temperature, and surface roughness. At the same time, increasing the cutting speed and nose radius increased the cutting temperature, which in turn reduced the resultant force. For practical applications, basic mathematical calculations based on the sole effect of each parameter on the output of the experiments were used to estimate the extent of percentage increase in cutting temperature due to increasing feed rate, cutting speed, and nose radius. Similarly, the same approach was used to estimate the effect of increasing feed rate, cutting speed, and nose radius on average surface roughness. Results showed that increasing the feed rate increases the cutting temperature by 5 to 11% depending on the nose radius and cutting speed. On the other hand, increasing the cutting speed was found to have limited effect on cutting temperature with small nose radius whereas this effect increases with increasing the nose radius reaching about 11%. Increasing the nose radius also increases the cutting temperature, depending mainly on cutting speed, reaching a maximum of 21% at higher cutting speeds. Results also showed that increasing the feed rate increased the average surface roughness considerably to about 120% at high cutting speeds and a large nose radius. On the other hand, increasing the cutting speed and nose radius reduced the surface roughness (i.e., improved surface quality) by a maximum of 29 and 23%, respectively. In order to study the combined effects of the cutting parameters on the three responses, namely, the resultant cutting force, cutting temperature, and surface roughness, full factorial design and ANOVA were used, where it was found to be in good agreement with mathematical calculations. Additionally, the desirability function optimization tool was used to minimize the measured responses whilst maximizing the material removal rate.

Brachycephalic dog breeds are highly popular, yet their conformation-related disorders represent a major welfare concern. It has been suggested that the current popularity of such breeds can be explained by their cute, infant-like facial appearances. The concept of ‘kindchenschema’ refers to the observation that certain physical features of infant humans and other animals can automatically stimulate positive and nurturant feelings in adult observers. But the proposal that brachycephalic dogs possess heightened ‘kindchenschema’ facial features, even into adulthood, has never been formally investigated. Here, we hypothesised that relative muzzle shortening across a range of breeds would be associated with known ‘kindchenschema’ facial features, including a relatively larger forehead, larger eyes and smaller nose. Relative fronto-facial feature sizes in exemplar photographs of adult dogs from 42 popular breeds were measured and associated with existing data on the relative muzzle length and height-at-withers of the same breeds. Our results show that, in adulthood, shorter-muzzled breeds have relatively larger (taller) foreheads and relatively larger eyes (i.e. area of exposed eyeball relative to overall face area) than longer-muzzled breeds, and that this effect is independent of breed size. In sum, brachycephalic dog breeds do show exaggeration of some, but not all, known fronto-facial ‘kindchenschema’ features, and this may well contribute to their apparently cute appearance and to their current popularity as companion animals. We conclude that the challenge of addressing conformation-related disorders in companion dogs needs to take account of the cute, ‘kindchenschema’ looks that many owners are likely to be attracted to.

Background: Malocclusion is an occlusion that deviates from the normal state. Diagnosis and orthodontic treatment plan might use Holdaway soft tissue cephalometric analysis. Holdaway's analysis is more detailed and clear because it has 11 parameters in soft tissue measurements, namely facial angle, nasal crest distance, upper lip sulcus depth, H angle, Subnasal distance to H line, skeletal convexity, thickness of the base of the upper lip, upper lip strain, distance Li to H line, ILS distance to H line and chin thickness. Objective: To describe the soft tissue profile of patients based on Holdaway analysis in patients aged 6-12 years at RSGM-P FKG Usakti. Methods: Descriptive observational study with a cross-sectional design on orthodontic patients aged 6-12 years at RSGM-P FKG Usakti in 2018-2019. Results: The mean facial angle of the patient was 88.3°, nasal crest was 5.12 mm, the mean upper lip sulcus depth was 3 mm, the mean H angle was 16.68°, the mean Sn-H was 7.77 mm, the skeletal convexity was 3.75 mm. , the thickness of the upper lip base was 11.37 mm, the upper lip strain was 11.52 mm, the Li-H average was 2.56 mm, the ILS-H average was 2.59 mm and the chin thickness measurement was 11.09 mm. Conclusion: This study showed that the patient had an ideal upper lip sulcus depth, ILS-H distance, and chin thickness meanwhile the facial angle, H angle, and skeletal convexity are convex. The Sn-H distance, thickness of the upper lip base, upper lip strain, and Li-H distance are less than ideal, accompanied by a small nose crest distance